|
NM_001072.4(UGT1A6):c.862-10021T>G
|
rs4124874
|
0.55614
|
|
NM_000636.4(SOD2):c.47T>C (p.Val16Ala)
|
rs4880
|
0.47242
|
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.17677
|
|
NM_000041.4(APOE):c.388T>C (p.Cys130Arg)
|
rs429358
|
0.16059
|
|
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe)
|
rs1804495
|
0.12108
|
|
NM_001370466.1(NOD2):c.2717+158C>T
|
rs5743289
|
0.10180
|
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07384
|
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06828
|
|
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)
|
rs73885319
|
0.06773
|
|
NM_016335.6(PRODH):c.1292G>A (p.Arg431His)
|
rs2904552
|
0.06735
|
|
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)
|
rs60910145
|
0.06255
|
|
NM_005105.5(RBM8A):c.*6C>G
|
rs12079762
|
0.04454
|
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04034
|
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
|
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)
|
rs1801581
|
0.02951
|
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
|
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)
|
rs72550870
|
0.02216
|
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
|
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01412
|
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
|
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
|
UGT1A1*6
|
rs4148323
|
0.01140
|
|
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)
|
rs9378252
|
0.00964
|
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00953
|
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00944
|
|
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)
|
rs200988634
|
0.00927
|
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
|
NM_001436401.1(NOBOX):c.38-293G>T
|
rs77587352
|
0.00850
|
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
|
NM_000041.4(APOE):c.487C>T (p.Arg163Cys)
|
rs769455
|
0.00701
|
|
NM_001902.6(CTH):c.200C>T (p.Thr67Ile)
|
rs28941785
|
0.00693
|
|
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)
|
rs74653330
|
0.00674
|
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
|
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)
|
rs144080386
|
0.00620
|
|
NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter)
|
rs141784184
|
0.00584
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
0.00567
|
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
|
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp)
|
rs137852860
|
0.00490
|
|
NM_016233.2(PADI3):c.335T>A (p.Leu112His)
|
rs142129409
|
0.00490
|
|
NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00476
|
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00475
|
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
|
NM_001377.3(DYNC2H1):c.3097-4A>G
|
rs368802969
|
0.00442
|
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00417
|
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00408
|
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00393
|
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00391
|
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00380
|
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00378
|
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
|
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)
|
rs121909293
|
0.00374
|
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00368
|
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00364
|
|
NM_000350.3(ABCA4):c.769-784C>T
|
rs144695319
|
0.00360
|
|
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00347
|
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00346
|
|
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln)
|
rs75398746
|
0.00343
|
|
NM_025152.3(NUBPL):c.815-27T>C
|
rs118161496
|
0.00343
|
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00342
|
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00337
|
|
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)
|
rs67376798
|
0.00334
|
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
|
NM_016335.6(PRODH):c.1397C>T (p.Thr466Met)
|
rs2870984
|
0.00314
|
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00312
|
|
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)
|
rs28933390
|
0.00310
|
|
NM_002461.3(MVD):c.70+5G>A
|
rs200035262
|
0.00306
|
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00304
|
|
NM_033419.5(PGAP3):c.*559C>T
|
rs183208638
|
0.00300
|
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00293
|
|
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)
|
rs113298164
|
0.00288
|
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00283
|
|
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)
|
rs2904551
|
0.00282
|
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00279
|
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00279
|
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00273
|
|
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met)
|
rs35960726
|
0.00270
|
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
|
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)
|
rs41282065
|
0.00267
|
|
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)
|
rs144478519
|
0.00264
|
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
|
NM_014672.4(PRORP):c.1301C>A (p.Ala434Asp)
|
rs144536804
|
0.00260
|
|
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)
|
rs112292549
|
0.00252
|
|
NM_000055.4(BCHE):c.635C>T (p.Ala212Val)
|
rs114706984
|
0.00249
|
|
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)
|
rs149484917
|
0.00246
|
|
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)
|
rs115746363
|
0.00243
|
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
|
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00239
|
|
NM_001321739.2(M1AP):c.676dup (p.Trp226fs)
|
rs144217347
|
0.00238
|
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00237
|
|
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
|
rs104893836
|
0.00236
|
|
NM_001756.4(SERPINA6):c.344T>A (p.Leu115His)
|
rs113418909
|
0.00236
|
|
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)
|
rs113106943
|
0.00232
|
|
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)
|
rs138480801
|
0.00230
|
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00219
|
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00218
|
|
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)
|
rs565866662
|
0.00212
|
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
|
NM_000065.5(C6):c.1138del (p.Gln380fs)
|
rs375762365
|
0.00206
|
|
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)
|
rs28929470
|
0.00199
|
|
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)
|
rs35859650
|
0.00196
|
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00190
|
|
NM_018384.5(GIMAP5):c.611T>C (p.Leu204Pro)
|
rs72650695
|
0.00189
|
|
NM_001201427.2(DAAM2):c.1745C>A (p.Pro582His)
|
rs150676991
|
0.00188
|
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00188
|
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00188
|
|
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)
|
rs57443665
|
0.00186
|
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00178
|
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00178
|
|
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)
|
rs140926412
|
0.00178
|
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
|
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)
|
rs119468010
|
0.00173
|
|
NM_016327.3(UPB1):c.917-1G>A
|
rs143493067
|
0.00169
|
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
|
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
|
rs2227624
|
0.00167
|
|
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)
|
rs10250779
|
0.00166
|
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00164
|
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00164
|
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
|
NM_183065.4(TMEM107):c.*759C>T
|
rs201787275
|
0.00162
|
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00158
|
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
|
NM_000040.3(APOC3):c.55+1G>A
|
rs138326449
|
0.00153
|
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00151
|
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00151
|
|
NM_017952.6(PTCD3):c.1918C>G (p.Pro640Ala)
|
rs144692694
|
0.00151
|
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
|
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter)
|
rs71581941
|
0.00150
|
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00149
|
|
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu)
|
rs72549326
|
0.00149
|
|
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=)
|
rs121918239
|
0.00149
|
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00149
|
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00147
|
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00147
|
|
NM_013391.3(DMGDH):c.326A>G (p.His109Arg)
|
rs121908331
|
0.00147
|
|
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)
|
rs121908326
|
0.00147
|
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
|
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)
|
rs150597413
|
0.00144
|
|
NM_000372.5(TYR):c.650G>A (p.Arg217Gln)
|
rs61754365
|
0.00143
|
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
|
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)
|
rs28931570
|
0.00137
|
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
|
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)
|
rs201754030
|
0.00136
|
|
NM_144666.3(DNHD1):c.8782C>T (p.Arg2928Ter)
|
rs199752008
|
0.00136
|
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00133
|
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
|
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)
|
rs104893837
|
0.00132
|
|
NM_000065.5(C6):c.821del (p.Gln274fs)
|
rs557023458
|
0.00131
|
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00131
|
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00129
|
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00128
|
|
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)
|
rs35201073
|
0.00128
|
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
|
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
|
NR_003051.4(RMRP):n.72A>G
|
rs199476103
|
0.00123
|
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00121
|
|
NM_006715.4(MAN2C1):c.601-2A>G
|
rs147928844
|
0.00120
|
|
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)
|
rs121964926
|
0.00118
|
|
NM_002470.4(MYH3):c.-9+1G>A
|
rs557849165
|
0.00117
|
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00116
|
|
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)
|
rs137868995
|
0.00116
|
|
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)
|
rs201162411
|
0.00116
|
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00115
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
rs5928
|
0.00113
|
|
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter)
|
rs149266909
|
0.00113
|
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00111
|
|
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)
|
rs61732167
|
0.00111
|
|
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)
|
rs121909548
|
0.00110
|
|
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)
|
rs11568514
|
0.00110
|
|
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)
|
rs142566193
|
0.00109
|
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
|
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)
|
rs79717168
|
0.00108
|
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00108
|
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00107
|
|
NM_001354640.2(CIROP):c.92C>T (p.Ser31Phe)
|
rs553352307
|
0.00107
|
|
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)
|
rs61495246
|
0.00107
|
|
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)
|
rs147398904
|
0.00106
|
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
|
NM_000787.4(DBH):c.339+2T>C
|
rs74853476
|
0.00105
|
|
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)
|
rs137853026
|
0.00105
|
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00105
|
|
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
|
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)
|
rs141542003
|
0.00103
|
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00102
|
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
|
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)
|
rs1064422
|
0.00102
|
|
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)
|
rs147149459
|
0.00102
|
|
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)
|
rs137852987
|
0.00102
|
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
|
NM_000251.3(MSH2):c.942+2T>A
|
rs587779195
|
0.00101
|
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00101
|
|
NM_019616.4(F7):c.1057C>T (p.Arg353Trp)
|
rs137919286
|
0.00101
|
|
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)
|
rs145451123
|
0.00098
|
|
NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter)
|
rs199671406
|
0.00098
|
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
|
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)
|
rs139582106
|
0.00096
|
|
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)
|
rs116471343
|
0.00096
|
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
|
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)
|
rs138994150
|
0.00094
|
|
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)
|
rs146170087
|
0.00094
|
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00093
|
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
|
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)
|
rs749838192
|
0.00091
|
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00090
|
|
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)
|
rs61749454
|
0.00089
|
|
NM_000587.4(C7):c.405del (p.Asn136fs)
|
rs139491301
|
0.00088
|
|
NM_001292063.2(OTOG):c.7693+1G>A
|
rs548496846
|
0.00088
|
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00087
|
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
|
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)
|
rs74315329
|
0.00086
|
|
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)
|
rs200190291
|
0.00086
|
|
NM_018240.7(KIRREL1):c.1718C>T (p.Ser573Leu)
|
rs139995772
|
0.00086
|
|
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)
|
rs72544141
|
0.00085
|
|
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)
|
rs138016359
|
0.00085
|
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00084
|
|
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00084
|
|
NM_001081.4(CUBN):c.6821+2T>C
|
rs150901286
|
0.00083
|
|
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
|
rs61750563
|
0.00082
|
|
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro)
|
rs368060
|
0.00081
|
|
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)
|
rs144139747
|
0.00081
|
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00078
|
|
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
|
rs114368325
|
0.00078
|
|
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)
|
rs184256941
|
0.00078
|
|
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)
|
rs138269726
|
0.00078
|
|
NM_022829.6(SLC13A3):c.1016+3A>G
|
rs199961976
|
0.00078
|
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
|
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)
|
rs150726175
|
0.00077
|
|
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)
|
rs5030764
|
0.00076
|
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00076
|
|
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)
|
rs146132083
|
0.00076
|
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
|
NM_032885.6(ATG4D):c.266G>A (p.Ser89Asn)
|
rs200278873
|
0.00074
|
|
NM_000392.5(ABCC2):c.1967+1G>A
|
rs146405172
|
0.00073
|
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
|
NM_001079524.2(PAICS):c.158A>G (p.Lys53Arg)
|
rs192831239
|
0.00072
|
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00072
|
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00072
|
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
0.00071
|
|
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)
|
rs120074114
|
0.00071
|
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00071
|
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00070
|
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00070
|
|
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp)
|
rs145146218
|
0.00070
|
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00070
|
|
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)
|
rs146013446
|
0.00069
|
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00068
|
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
|
NM_005797.4(MPZL2):c.72del (p.Ile24fs)
|
rs752672077
|
0.00067
|
|
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)
|
rs515726209
|
0.00067
|
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
|
NM_000128.4(F11):c.901T>C (p.Phe301Leu)
|
rs121965064
|
0.00066
|
|
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter)
|
rs200484521
|
0.00066
|
|
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00066
|
|
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys)
|
rs137901350
|
0.00066
|
|
NM_198076.6(COX20):c.157+3G>C
|
rs367956888
|
0.00066
|
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00065
|
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
|
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00064
|
|
NM_015971.4(MRPS7):c.550A>G (p.Met184Val)
|
rs115047866
|
0.00064
|
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
|
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)
|
rs151093663
|
0.00063
|
|
NM_001086521.2(NDUFAF8):c.195+271C>T
|
rs745332456
|
0.00063
|
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00063
|
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
|
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)
|
rs184758350
|
0.00063
|
|
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)
|
rs143994166
|
0.00062
|
|
NM_004917.5(KLK4):c.458G>A (p.Trp153Ter)
|
rs104894704
|
0.00062
|
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
|
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)
|
rs199690076
|
0.00059
|
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00059
|
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00059
|
|
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)
|
rs121434422
|
0.00058
|
|
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly)
|
rs138435128
|
0.00058
|
|
NM_000153.4(GALC):c.349A>G (p.Met117Val)
|
rs145580093
|
0.00057
|
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
|
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)
|
rs138613460
|
0.00057
|
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00057
|
|
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter)
|
rs71454844
|
0.00057
|
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00057
|
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00056
|
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
|
NM_006591.3(POLD3):c.1118A>C (p.Lys373Thr)
|
rs181857010
|
0.00056
|
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
|
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)
|
rs121964904
|
0.00055
|
|
NM_000128.4(F11):c.809A>T (p.Lys270Ile)
|
rs121965070
|
0.00055
|
|
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)
|
rs9378251
|
0.00055
|
|
NM_018429.3(BDP1):c.7873T>G (p.Ter2625Glu)
|
rs199721728
|
0.00055
|
|
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)
|
rs145360423
|
0.00054
|
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
|
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)
|
rs201230446
|
0.00054
|
|
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter)
|
rs200002200
|
0.00054
|
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
|
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter)
|
rs72558199
|
0.00053
|
|
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)
|
rs370382601
|
0.00053
|
|
NM_003805.5(CRADD):c.509G>A (p.Arg170His)
|
rs141179774
|
0.00053
|
|
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)
|
rs143218168
|
0.00052
|
|
NM_001145026.2(PTPRQ):c.1359+2T>C
|
rs377572771
|
0.00052
|
|
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter)
|
rs144042123
|
0.00052
|
|
NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)
|
rs78950939
|
0.00051
|
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
|
NM_000541.5(SAG):c.182-2A>G
|
rs201086679
|
0.00051
|
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
|
NM_018130.3(SHQ1):c.523G>T (p.Asp175Tyr)
|
rs143636968
|
0.00051
|
|
NM_138691.3(TMC1):c.1763+3A>G
|
rs370898981
|
0.00051
|
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00050
|
|
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
|
rs12713559
|
0.00050
|
|
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00050
|
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00050
|
|
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val)
|
rs143292359
|
0.00050
|
|
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu)
|
rs56307355
|
0.00050
|
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00049
|
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00049
|
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00049
|
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
|
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)
|
rs28929488
|
0.00049
|
|
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)
|
rs121917814
|
0.00049
|
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00048
|
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
|
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser)
|
rs104895503
|
0.00048
|
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
|
NM_080860.4(RSPH1):c.275-2A>C
|
rs151107532
|
0.00048
|
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
|
NM_181426.2(CCDC39):c.1167+1261A>G
|
rs577069249
|
0.00048
|
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00047
|
|
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)
|
rs776989258
|
0.00047
|
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00047
|
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00047
|
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00046
|
|
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)
|
rs140853839
|
0.00046
|
|
NM_000312.4(PROC):c.565C>T (p.Arg189Trp)
|
rs146922325
|
0.00046
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
0.00046
|
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
|
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)
|
rs143797113
|
0.00046
|
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
|
NM_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
0.00046
|
|
NM_016556.4(PSMC3IP):c.189G>T (p.Lys63Asn)
|
rs139657728
|
0.00046
|
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00046
|
|
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)
|
rs5030872
|
0.00045
|
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
|
NM_000492.4(CFTR):c.601G>A (p.Val201Met)
|
rs138338446
|
0.00045
|
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00045
|
|
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)
|
rs146466242
|
0.00045
|
|
NM_006715.4(MAN2C1):c.2612G>C (p.Cys871Ser)
|
rs143755898
|
0.00045
|
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00045
|
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
|
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)
|
rs137891647
|
0.00045
|
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00044
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
rs150673992
|
0.00044
|
|
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu)
|
rs553950608
|
0.00044
|
|
NM_001218.5(CA12):c.908-1G>A
|
rs148438059
|
0.00044
|
|
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)
|
rs139644798
|
0.00044
|
|
NM_006715.4(MAN2C1):c.607G>A (p.Gly203Arg)
|
rs190692217
|
0.00044
|
|
NM_015865.7(SLC14A1):c.342-1G>A
|
rs78937798
|
0.00044
|
|
NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)
|
rs147211854
|
0.00044
|
|
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu)
|
rs138215926
|
0.00044
|
|
NM_001735.3(C5):c.55C>T (p.Gln19Ter)
|
rs121909587
|
0.00043
|
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
|
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)
|
rs138004478
|
0.00043
|
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00042
|
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00042
|
|
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)
|
rs547116063
|
0.00042
|
|
NM_001737.5(C9):c.721del (p.Ser240_Leu241insTer)
|
rs774253048
|
0.00042
|
|
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu)
|
rs148890852
|
0.00042
|
|
NM_020320.5(RARS2):c.773G>A (p.Arg258His)
|
rs145297855
|
0.00042
|
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
|
NM_001353694.2(TIAM1):c.67C>T (p.Arg23Cys)
|
rs149744081
|
0.00041
|
|
NM_005732.4(RAD50):c.687del (p.Ser229fs)
|
rs760146707
|
0.00041
|
|
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)
|
rs140430952
|
0.00041
|
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
|
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)
|
rs144203670
|
0.00041
|
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00041
|
|
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter)
|
rs576724182
|
0.00041
|
|
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)
|
rs121912682
|
0.00040
|
|
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)
|
rs55886062
|
0.00040
|
|
NM_000204.5(CFI):c.355G>A (p.Gly119Arg)
|
rs141853578
|
0.00040
|
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00040
|
|
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
|
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu)
|
rs145039072
|
0.00040
|
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
|
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro)
|
rs200005406
|
0.00039
|
|
NM_007113.4(TCHH):c.991C>T (p.Gln331Ter)
|
rs201930497
|
0.00039
|
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00038
|
|
NM_001395891.1(CLASP1):c.196-567G>A
|
rs559979281
|
0.00038
|
|
NM_001395891.1(CLASP1):c.196-605C>T
|
rs188343279
|
0.00038
|
|
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)
|
rs146292819
|
0.00038
|
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
|
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp)
|
rs201201843
|
0.00038
|
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00037
|
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00037
|
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00037
|
|
NM_001609.4(ACADSB):c.375dup (p.Glu126fs)
|
rs756587384
|
0.00037
|
|
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter)
|
rs144666367
|
0.00037
|
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00037
|
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00036
|
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
|
NM_000505.4(F12):c.1681-1G>A
|
rs199988476
|
0.00036
|
|
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)
|
rs121918282
|
0.00036
|
|
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)
|
rs1004428835
|
0.00036
|
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00036
|
|
NM_002016.2(FLG):c.3321del (p.Gly1109fs)
|
rs200519781
|
0.00036
|
|
NM_002303.6(LEPR):c.1835G>A (p.Arg612His)
|
rs144159890
|
0.00036
|
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568
|
0.00036
|
|
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser)
|
rs546442503
|
0.00036
|
|
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs)
|
rs764928653
|
0.00036
|
|
NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del)
|
rs759270179
|
0.00036
|
|
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)
|
rs140076803
|
0.00036
|
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00036
|
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
|
NM_170741.4(KCNJ16):c.749C>T (p.Pro250Leu)
|
rs138520154
|
0.00036
|
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
|
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp)
|
rs201820739
|
0.00035
|
|
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)
|
rs781136336
|
0.00035
|
|
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)
|
rs183487020
|
0.00035
|
|
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)
|
rs61748545
|
0.00035
|
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00035
|
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
|
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro)
|
rs200460601
|
0.00035
|
|
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala)
|
rs189270875
|
0.00035
|
|
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met)
|
rs779248881
|
0.00035
|
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
|
NM_015836.4(WARS2):c.938A>T (p.Lys313Met)
|
rs145867327
|
0.00035
|
|
NM_000048.4(ASL):c.532G>A (p.Val178Met)
|
rs28941473
|
0.00034
|
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
|
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)
|
rs61750648
|
0.00034
|
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00034
|
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
|
NM_006576.4(AVIL):c.404G>A (p.Arg135Gln)
|
rs138047529
|
0.00034
|
|
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)
|
rs72553877
|
0.00034
|
|
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)
|
rs200092283
|
0.00034
|
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
|
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)
|
rs200692438
|
0.00033
|
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
|
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)
|
rs17847577
|
0.00033
|
|
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser)
|
rs75326924
|
0.00033
|
|
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)
|
rs121912714
|
0.00033
|
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00032
|
|
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)
|
rs74315298
|
0.00032
|
|
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)
|
rs61761869
|
0.00032
|
|
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)
|
rs61748532
|
0.00032
|
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00032
|
|
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
|
NM_004183.4(BEST1):c.422G>A (p.Arg141His)
|
rs121918284
|
0.00032
|
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
|
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter)
|
rs200353633
|
0.00032
|
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00032
|
|
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu)
|
rs148832260
|
0.00032
|
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00032
|
|
NM_000055.4(BCHE):c.435_436insG (p.Phe146fs)
|
rs774072493
|
0.00031
|
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00031
|
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
|
NM_003104.6(SORD):c.458C>A (p.Ala153Asp)
|
rs145813597
|
0.00031
|
|
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
|
rs72553875
|
0.00031
|
|
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)
|
rs201337954
|
0.00031
|
|
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)
|
rs115209243
|
0.00031
|
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00030
|
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00030
|
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00030
|
|
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00030
|
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00030
|
|
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)
|
rs201322234
|
0.00030
|
|
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)
|
rs112735431
|
0.00030
|
|
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro)
|
rs146195955
|
0.00030
|
|
NM_018897.3(DNAH7):c.6492G>A (p.Met2164Ile)
|
rs192120666
|
0.00030
|
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
|
NM_078470.6(COX15):c.452C>G (p.Ser151Ter)
|
rs149718203
|
0.00030
|
|
NM_206926.2(SELENON):c.841G>A (p.Gly281Ser)
|
rs121908188
|
0.00030
|
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00029
|
|
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)
|
rs63159160
|
0.00029
|
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
|
NM_001077418.3(TMEM231):c.139+47C>A
|
rs200063331
|
0.00029
|
|
NM_001360.3(DHCR7):c.988G>A (p.Val330Met)
|
rs139724817
|
0.00029
|
|
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)
|
rs398122391
|
0.00029
|
|
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)
|
rs200530055
|
0.00029
|
|
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)
|
rs188094280
|
0.00029
|
|
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)
|
rs104894493
|
0.00029
|
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
|
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)
|
rs142371860
|
0.00029
|
|
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)
|
rs61740289
|
0.00029
|
|
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)
|
rs121912799
|
0.00028
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
rs5742904
|
0.00028
|
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
|
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr)
|
rs374016704
|
0.00028
|
|
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)
|
rs139332887
|
0.00028
|
|
NM_012123.4(MTO1):c.1430G>A (p.Arg477His)
|
rs201544686
|
0.00028
|
|
NM_014321.4(ORC6):c.2T>C (p.Met1Thr)
|
rs146795505
|
0.00028
|
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00028
|
|
NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter)
|
rs778926161
|
0.00028
|
|
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
|
rs80356540
|
0.00028
|
|
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)
|
rs150613320
|
0.00028
|
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00028
|
|
NM_139281.3(WDR36):c.896A>G (p.Asn299Ser)
|
rs118204022
|
0.00028
|
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00027
|
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00027
|
|
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00027
|
|
NM_001930.4(DHPS):c.1014+1G>A
|
rs142633494
|
0.00027
|
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
|
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)
|
rs113994012
|
0.00027
|
|
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg)
|
rs201428088
|
0.00027
|
|
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His)
|
rs199621031
|
0.00027
|
|
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)
|
rs773033563
|
0.00027
|
|
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00027
|
|
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter)
|
rs137955225
|
0.00027
|
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00026
|
|
NM_000481.4(AMT):c.635T>C (p.Val212Ala)
|
rs201141125
|
0.00026
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
rs143992984
|
0.00026
|
|
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
|
NM_001737.5(C9):c.346C>T (p.Arg116Ter)
|
rs121909592
|
0.00026
|
|
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
0.00026
|
|
NM_004287.5(GOSR2):c.336+1G>A
|
rs141554661
|
0.00026
|
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
|
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg)
|
rs137852638
|
0.00026
|
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
|
NM_015047.3(EMC1):c.2712dup (p.His905fs)
|
rs781137936
|
0.00026
|
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
|
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)
|
rs139455627
|
0.00026
|
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
|
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys)
|
rs28931603
|
0.00025
|
|
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)
|
rs28933673
|
0.00025
|
|
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)
|
rs142931246
|
0.00025
|
|
NM_000341.4(SLC3A1):c.592del (p.Ala198fs)
|
rs778000327
|
0.00025
|
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
0.00025
|
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
|
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs)
|
rs538193392
|
0.00025
|
|
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)
|
rs121434430
|
0.00025
|
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
|
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg)
|
rs191759494
|
0.00025
|
|
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)
|
rs74103423
|
0.00025
|
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00025
|
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00025
|
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
|
NM_016146.6(TRAPPC4):c.454+3A>G
|
rs375776811
|
0.00025
|
|
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)
|
rs138119149
|
0.00025
|
|
NM_145059.3(FCSK):c.2980A>C (p.Lys994Gln)
|
rs199515460
|
0.00025
|
|
NM_173651.4(FSIP2):c.17798C>T (p.Ser5933Phe)
|
rs191083003
|
0.00025
|
|
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)
|
rs199766465
|
0.00025
|
|
NR_023343.3(RNU4ATAC):n.8C>T
|
rs370715569
|
0.00025
|
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00024
|
|
NM_000237.3(LPL):c.998G>A (p.Arg333His)
|
rs144466625
|
0.00024
|
|
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)
|
rs148460146
|
0.00024
|
|
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)
|
rs139373929
|
0.00024
|
|
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
|
rs575822089
|
0.00024
|
|
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter)
|
rs142746163
|
0.00024
|
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
|
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)
|
rs137852959
|
0.00024
|
|
NM_004667.6(HERC2):c.10021C>T (p.Gln3341Ter)
|
rs371406398
|
0.00024
|
|
NM_005422.4(TECTA):c.327C>T (p.Gly109=)
|
rs727504830
|
0.00024
|
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00024
|
|
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter)
|
rs367810877
|
0.00024
|
|
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)
|
rs527421775
|
0.00024
|
|
NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter)
|
rs369437168
|
0.00024
|
|
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
|
rs137852849
|
0.00024
|
|
NM_000066.4(C8B):c.271C>T (p.Gln91Ter)
|
rs146187042
|
0.00023
|
|
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)
|
rs144812594
|
0.00023
|
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00023
|
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
|
NM_000369.5(TSHR):c.1349G>A (p.Arg450His)
|
rs189261858
|
0.00023
|
|
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)
|
rs376823382
|
0.00023
|
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00023
|
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00023
|
|
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)
|
rs146347092
|
0.00023
|
|
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys)
|
rs148636776
|
0.00023
|
|
NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly)
|
rs150726107
|
0.00023
|
|
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)
|
rs79987078
|
0.00023
|
|
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala)
|
rs140202230
|
0.00023
|
|
NM_030653.4(DDX11):c.1763-1G>C
|
rs148856317
|
0.00023
|
|
NM_145649.5(GCNT2):c.14G>A (p.Trp5Ter)
|
rs185805779
|
0.00023
|
|
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)
|
rs202142867
|
0.00022
|
|
NM_000098.3(CPT2):c.149C>A (p.Pro50His)
|
rs28936375
|
0.00022
|
|
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)
|
rs72549387
|
0.00022
|
|
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)
|
rs118204057
|
0.00022
|
|
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
|
rs199473603
|
0.00022
|
|
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)
|
rs1801269
|
0.00022
|
|
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)
|
rs142063461
|
0.00022
|
|
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)
|
rs757653154
|
0.00022
|
|
NM_001142800.2(EYS):c.3443+1G>T
|
rs373441420
|
0.00022
|
|
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)
|
rs140986055
|
0.00022
|
|
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)
|
rs149802213
|
0.00022
|
|
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)
|
rs147718607
|
0.00022
|
|
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp)
|
rs150832314
|
0.00022
|
|
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)
|
rs387906816
|
0.00022
|
|
NM_006567.5(FARS2):c.407C>A (p.Pro136His)
|
rs199863563
|
0.00022
|
|
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys)
|
rs1306393544
|
0.00022
|
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
|
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)
|
rs371720347
|
0.00022
|
|
NM_153603.4(COG7):c.435+2T>C
|
rs201446992
|
0.00022
|
|
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu)
|
rs139076647
|
0.00022
|
|
NC_000011.10:g.5227159G>A
|
rs33944208
|
0.00021
|
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
|
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)
|
rs121918167
|
0.00021
|
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
|
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)
|
rs143473912
|
0.00021
|
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
|
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)
|
rs199422117
|
0.00021
|
|
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter)
|
rs149102421
|
0.00021
|
|
NM_001177316.2(SLC34A3):c.413C>T (p.Ser138Phe)
|
rs141734934
|
0.00021
|
|
NM_001385.3(DPYS):c.1469G>A (p.Arg490His)
|
rs189448963
|
0.00021
|
|
NM_002016.2(FLG):c.94G>T (p.Glu32Ter)
|
rs114733570
|
0.00021
|
|
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys)
|
rs200180113
|
0.00021
|
|
NM_003085.5(SNCB):c.368C>A (p.Pro123His)
|
rs104893937
|
0.00021
|
|
NM_003384.3(VRK1):c.1160G>A (p.Arg387His)
|
rs1420939606
|
0.00021
|
|
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)
|
rs373076763
|
0.00021
|
|
NM_012275.3(IL36RN):c.115+6T>C
|
rs148755083
|
0.00021
|
|
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe)
|
rs144405450
|
0.00021
|
|
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter)
|
rs147948835
|
0.00021
|
|
NM_030780.5(SLC25A32):c.440G>A (p.Arg147His)
|
rs142329098
|
0.00021
|
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
|
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)
|
rs121908253
|
0.00021
|
|
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys)
|
rs121917828
|
0.00021
|
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00021
|
|
NM_198053.3(CD247):c.301C>T (p.Gln101Ter)
|
rs55729925
|
0.00021
|
|
NM_199242.3(UNC13D):c.118-308C>T
|
rs959968589
|
0.00021
|
|
NM_206965.2(FTCD):c.211C>T (p.Arg71Ter)
|
rs8133955
|
0.00021
|
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00020
|
|
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg)
|
rs753904927
|
0.00020
|
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
|
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)
|
rs189174414
|
0.00020
|
|
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His)
|
rs147226818
|
0.00020
|
|
NM_020401.4(NUP107):c.1064G>A (p.Arg355His)
|
rs747135247
|
0.00020
|
|
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg)
|
rs138632121
|
0.00020
|
|
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp)
|
rs200426926
|
0.00020
|
|
NM_130849.4(SLC39A4):c.192+19G>A
|
rs368996660
|
0.00020
|
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
|
NM_000022.4(ADA):c.986C>T (p.Ala329Val)
|
rs121908715
|
0.00019
|
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
|
NM_000026.4(ADSL):c.1191+5G>C
|
rs773404017
|
0.00019
|
|
NM_000083.3(CLCN1):c.180+3A>T
|
rs202217420
|
0.00019
|
|
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
|
rs61750168
|
0.00019
|
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
|
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00019
|
|
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met)
|
rs150335311
|
0.00019
|
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00019
|
|
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)
|
rs563581127
|
0.00019
|
|
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly)
|
rs145718830
|
0.00019
|
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
|
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)
|
rs121908866
|
0.00019
|
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
|
NM_000443.4(ABCB4):c.2784-12T>C
|
rs201498350
|
0.00019
|
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
|
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)
|
rs376103091
|
0.00019
|
|
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)
|
rs201299260
|
0.00019
|
|
NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs)
|
rs771816857
|
0.00019
|
|
NM_001193313.2(SUGCT):c.301C>T (p.Arg101Ter)
|
rs137852862
|
0.00019
|
|
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter)
|
rs376983373
|
0.00019
|
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00019
|
|
NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser)
|
rs200708284
|
0.00019
|
|
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)
|
rs104894489
|
0.00019
|
|
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp)
|
rs369359789
|
0.00019
|
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00019
|
|
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro)
|
rs121918643
|
0.00019
|
|
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg)
|
rs121908449
|
0.00019
|
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00019
|
|
NM_005035.4(POLRMT):c.748C>G (p.His250Asp)
|
rs137994680
|
0.00019
|
|
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)
|
rs137853150
|
0.00019
|
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
0.00019
|
|
NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter)
|
rs777243508
|
0.00019
|
|
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)
|
rs200503833
|
0.00019
|
|
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)
|
rs200620279
|
0.00019
|
|
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)
|
rs200067423
|
0.00019
|
|
NM_017433.5(MYO3A):c.2506-1G>A
|
rs201023600
|
0.00019
|
|
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)
|
rs199952377
|
0.00019
|
|
NM_020812.4(DOCK6):c.5939+2T>C
|
rs201387914
|
0.00019
|
|
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)
|
rs397515338
|
0.00019
|
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
|
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met)
|
rs139024319
|
0.00019
|
|
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)
|
rs587776588
|
0.00019
|
|
NM_032119.4(ADGRV1):c.18782T>C (p.Leu6261Ser)
|
rs557331348
|
0.00019
|
|
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp)
|
rs121918403
|
0.00019
|
|
NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly)
|
rs137973334
|
0.00019
|
|
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)
|
rs377750405
|
0.00019
|
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
|
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)
|
rs55989760
|
0.00018
|
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
|
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)
|
rs149120354
|
0.00018
|
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
|
NM_000512.5(GALNS):c.685T>C (p.Tyr229His)
|
rs151165725
|
0.00018
|
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
|
NM_000550.3(TYRP1):c.1261+1G>A
|
rs140365820
|
0.00018
|
|
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)
|
rs121909379
|
0.00018
|
|
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His)
|
rs200614421
|
0.00018
|
|
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)
|
rs62638191
|
0.00018
|
|
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)
|
rs114269482
|
0.00018
|
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
|
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr)
|
rs149862950
|
0.00018
|
|
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)
|
rs199476083
|
0.00018
|
|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00018
|
|
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)
|
rs121908480
|
0.00018
|
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00017
|
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
|
NM_000156.6(GAMT):c.327G>A (p.Lys109=)
|
rs80338735
|
0.00017
|
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00017
|
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00017
|
|
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)
|
rs104895304
|
0.00017
|
|
NM_000434.4(NEU1):c.649G>A (p.Val217Met)
|
rs28940583
|
0.00017
|
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
|
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)
|
rs142773283
|
0.00017
|
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
|
NM_000558.5(HBA1):c.96-1G>A
|
rs34883113
|
0.00017
|
|
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)
|
rs56381858
|
0.00017
|
|
NM_001002294.3(FMO3):c.1474C>T (p.Arg492Trp)
|
rs72549334
|
0.00017
|
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00017
|
|
NM_001276277.3(PPIP5K2):c.2510G>A (p.Arg837His)
|
rs548137246
|
0.00017
|
|
NM_001278309.2(AKAP3):c.44G>A (p.Cys15Tyr)
|
rs150896332
|
0.00017
|
|
NM_001326411.2(PISD):c.830G>A (p.Arg277Gln)
|
rs147371584
|
0.00017
|
|
NM_001349232.2(ATG7):c.1975C>T (p.Arg659Ter)
|
rs201706487
|
0.00017
|
|
NM_001354768.3(NRL):c.654del (p.Cys219fs)
|
rs761024023
|
0.00017
|
|
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)
|
rs374746113
|
0.00017
|
|
NM_003937.3(KYNU):c.256dup (p.Tyr86fs)
|
rs550079487
|
0.00017
|
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
|
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu)
|
rs139497891
|
0.00017
|
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
|
NM_015512.5(DNAH1):c.6212T>G (p.Leu2071Arg)
|
rs757396103
|
0.00017
|
|
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)
|
rs143441644
|
0.00017
|
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00017
|
|
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp)
|
rs142143752
|
0.00017
|
|
NM_031889.3(ENAM):c.2763del (p.Asp921fs)
|
rs529979202
|
0.00017
|
|
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu)
|
rs202146344
|
0.00017
|
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00016
|
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
|
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)
|
rs2229820
|
0.00016
|
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
|
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)
|
rs121964974
|
0.00016
|
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
|
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)
|
rs137854617
|
0.00016
|
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
|
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
|
rs61750152
|
0.00016
|
|
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)
|
rs34993780
|
0.00016
|
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
|
NM_001002294.3(FMO3):c.172G>A (p.Val58Ile)
|
rs144935285
|
0.00016
|
|
NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter)
|
rs145661597
|
0.00016
|
|
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)
|
rs281865548
|
0.00016
|
|
NM_001177316.2(SLC34A3):c.448+1G>A
|
rs150841256
|
0.00016
|
|
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)
|
rs121908088
|
0.00016
|
|
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro)
|
rs191205969
|
0.00016
|
|
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu)
|
rs373946181
|
0.00016
|
|
NM_001282225.2(ADA2):c.973-2A>G
|
rs139750129
|
0.00016
|
|
NM_001286577.2(C2CD3):c.3911-2A>T
|
rs149366137
|
0.00016
|
|
NM_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter)
|
rs368844341
|
0.00016
|
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00016
|
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
|
NM_002340.6(LSS):c.530G>A (p.Arg177Gln)
|
rs142081800
|
0.00016
|
|
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)
|
rs200800978
|
0.00016
|
|
NM_004130.4(GYG1):c.143+3G>C
|
rs370652040
|
0.00016
|
|
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)
|
rs143141689
|
0.00016
|
|
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)
|
rs200277476
|
0.00016
|
|
NM_004562.3(PRKN):c.337_376del (p.Pro113fs)
|
rs771529549
|
0.00016
|
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
|
NM_005912.3(MC4R):c.508A>G (p.Ile170Val)
|
rs121913560
|
0.00016
|
|
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg)
|
rs200672755
|
0.00016
|
|
NM_006767.4(LZTR1):c.264-13G>A
|
rs587777176
|
0.00016
|
|
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr)
|
rs72553879
|
0.00016
|
|
NM_014321.4(ORC6):c.449+5G>A
|
rs572314014
|
0.00016
|
|
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)
|
rs121908419
|
0.00016
|
|
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)
|
rs369697947
|
0.00016
|
|
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)
|
rs140611214
|
0.00016
|
|
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys)
|
rs146802593
|
0.00016
|
|
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile)
|
rs139808557
|
0.00016
|
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
|
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)
|
rs138846118
|
0.00016
|
|
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser)
|
rs142887940
|
0.00016
|
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00016
|
|
NM_032229.3(SLITRK6):c.1240C>T (p.Gln414Ter)
|
rs587777069
|
0.00016
|
|
NM_057176.3(BSND):c.139G>A (p.Gly47Arg)
|
rs74315289
|
0.00016
|
|
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)
|
rs201803986
|
0.00016
|
|
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys)
|
rs755169246
|
0.00016
|
|
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu)
|
rs560475969
|
0.00016
|
|
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)
|
rs145119918
|
0.00016
|
|
NM_152269.5(MTRFR):c.210del (p.Gly72fs)
|
rs576462794
|
0.00016
|
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
|
NR_003051.4(RMRP):n.240C>T
|
rs749667892
|
0.00016
|
|
NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)
|
rs150954655
|
0.00015
|
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
|
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)
|
rs371412500
|
0.00015
|
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00015
|
|
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)
|
rs121434250
|
0.00015
|
|
NM_000392.5(ABCC2):c.3258+1G>A
|
rs762243203
|
0.00015
|
|
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)
|
rs139444207
|
0.00015
|
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00015
|
|
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys)
|
rs138587317
|
0.00015
|
|
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)
|
rs121918019
|
0.00015
|
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
0.00015
|
|
NM_001199251.3(SGO1):c.67A>G (p.Lys23Glu)
|
rs199815268
|
0.00015
|
|
NM_001267052.2(UNC45B):c.2326C>T (p.Arg776Trp)
|
rs199583516
|
0.00015
|
|
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)
|
rs80338856
|
0.00015
|
|
NM_001378778.1(MPDZ):c.4469del (p.Gln1490fs)
|
rs781251438
|
0.00015
|
|
NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg)
|
rs201258823
|
0.00015
|
|
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)
|
rs372754256
|
0.00015
|
|
NM_002437.5(MPV17):c.461+2T>C
|
rs138199394
|
0.00015
|
|
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)
|
rs138924661
|
0.00015
|
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
|
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val)
|
rs200167311
|
0.00015
|
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00015
|
|
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs)
|
rs777989874
|
0.00015
|
|
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter)
|
rs146689036
|
0.00015
|
|
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
|
rs150283105
|
0.00015
|
|
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)
|
rs200644381
|
0.00015
|
|
NM_014384.3(ACAD8):c.784G>A (p.Glu262Lys)
|
rs368653287
|
0.00015
|
|
NM_018191.4(RCBTB1):c.973C>T (p.His325Tyr)
|
rs200826424
|
0.00015
|
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
|
NM_020191.4(MRPS22):c.509G>A (p.Arg170His)
|
rs119478059
|
0.00015
|
|
NM_020320.5(RARS2):c.472_474del (p.Lys158del)
|
rs757743894
|
0.00015
|
|
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)
|
rs148773718
|
0.00015
|
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00015
|
|
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
|
rs79436363
|
0.00015
|
|
NM_025137.4(SPG11):c.667+5C>T
|
rs375485062
|
0.00015
|
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00015
|
|
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg)
|
rs199573774
|
0.00015
|
|
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)
|
rs375014127
|
0.00015
|
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
|
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)
|
rs28941472
|
0.00014
|
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00014
|
|
NM_000157.4(GBA1):c.222_224del (p.Thr75del)
|
rs761621516
|
0.00014
|
|
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)
|
rs121434372
|
0.00014
|
|
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)
|
rs757475924
|
0.00014
|
|
NM_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00014
|
|
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter)
|
rs121913015
|
0.00014
|
|
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)
|
rs764353860
|
0.00014
|
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
|
NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)
|
rs151141842
|
0.00014
|
|
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser)
|
rs121434247
|
0.00014
|
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00014
|
|
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)
|
rs766383135
|
0.00014
|
|
NM_000666.3(ACY1):c.575dup (p.Ser192fs)
|
rs770702363
|
0.00014
|
|
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
|
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro)
|
rs150802299
|
0.00014
|
|
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)
|
rs144598063
|
0.00014
|
|
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp)
|
rs121908083
|
0.00014
|
|
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)
|
rs773850151
|
0.00014
|
|
NM_001298.3(CNGA3):c.101+1G>A
|
rs147118493
|
0.00014
|
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
|
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp)
|
rs119472029
|
0.00014
|
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
|
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter)
|
rs181011657
|
0.00014
|
|
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter)
|
rs147145234
|
0.00014
|
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
|
NM_003504.5(CDC45):c.1416C>T (p.His472=)
|
rs190155337
|
0.00014
|
|
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu)
|
rs137852937
|
0.00014
|
|
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)
|
rs780768015
|
0.00014
|
|
NM_014384.3(ACAD8):c.384G>A (p.Met128Ile)
|
rs374317179
|
0.00014
|
|
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)
|
rs145473779
|
0.00014
|
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
|
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)
|
rs199795381
|
0.00014
|
|
NM_032635.4(TMEM147):c.19G>C (p.Gly7Arg)
|
rs200901862
|
0.00014
|
|
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)
|
rs121434287
|
0.00014
|
|
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)
|
rs398124598
|
0.00014
|
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00014
|
|
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)
|
rs142073798
|
0.00014
|
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00013
|
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00013
|
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
|
NM_000049.4(ASPA):c.212G>A (p.Arg71His)
|
rs104894553
|
0.00013
|
|
NM_000053.4(ATP7B):c.3243+5G>A
|
rs373193482
|
0.00013
|
|
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)
|
rs376107921
|
0.00013
|
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00013
|
|
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)
|
rs148865119
|
0.00013
|
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00013
|
|
NM_000122.2(ERCC3):c.1757del (p.Gln586fs)
|
rs753182861
|
0.00013
|
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
|
NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro)
|
rs771048666
|
0.00013
|
|
NM_000204.5(CFI):c.772G>A (p.Ala258Thr)
|
rs199688124
|
0.00013
|
|
NM_000312.4(PROC):c.889G>C (p.Asp297His)
|
rs199469471
|
0.00013
|
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00013
|
|
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)
|
rs1191496583
|
0.00013
|
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00013
|
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
|
NM_001083116.3(PRF1):c.695G>A (p.Arg232His)
|
rs747380397
|
0.00013
|
|
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)
|
rs780163791
|
0.00013
|
|
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln)
|
rs542708170
|
0.00013
|
|
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg)
|
rs281875281
|
0.00013
|
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00013
|
|
NM_001385.3(DPYS):c.1468C>T (p.Arg490Cys)
|
rs142574766
|
0.00013
|
|
NM_001386125.1(OBSCN):c.2653+1G>C
|
rs531253434
|
0.00013
|
|
NM_001737.5(C9):c.355T>G (p.Cys119Gly)
|
rs121909593
|
0.00013
|
|
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)
|
rs755855285
|
0.00013
|
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
|
NM_003850.3(SUCLA2):c.998A>G (p.Asp333Gly)
|
rs140963290
|
0.00013
|
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
0.00013
|
|
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs)
|
rs746636748
|
0.00013
|
|
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)
|
rs191486604
|
0.00013
|
|
NM_004614.5(TK2):c.415G>A (p.Ala139Thr)
|
rs138479499
|
0.00013
|
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
|
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)
|
rs121918376
|
0.00013
|
|
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)
|
rs119473033
|
0.00013
|
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00013
|
|
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)
|
rs200451098
|
0.00013
|
|
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu)
|
rs199730889
|
0.00013
|
|
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu)
|
rs139073416
|
0.00013
|
|
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg)
|
rs561633150
|
0.00013
|
|
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)
|
rs137852991
|
0.00013
|
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
|
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)
|
rs386834153
|
0.00013
|
|
NM_030653.4(DDX11):c.1403dup (p.Ser469fs)
|
rs778363138
|
0.00013
|
|
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)
|
rs376103979
|
0.00013
|
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
|
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)
|
rs201249971
|
0.00013
|
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
|
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)
|
rs142898216
|
0.00013
|
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00013
|
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00013
|
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
|
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)
|
rs267607134
|
0.00012
|
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
|
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)
|
rs147611168
|
0.00012
|
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
|
NM_000187.4(HGD):c.1112A>G (p.His371Arg)
|
rs120074172
|
0.00012
|
|
NM_000237.3(LPL):c.286G>C (p.Val96Leu)
|
rs373088068
|
0.00012
|
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
|
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)
|
rs142894102
|
0.00012
|
|
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)
|
rs767528365
|
0.00012
|
|
NM_000341.4(SLC3A1):c.1136+2T>C
|
rs766198611
|
0.00012
|
|
NM_000350.3(ABCA4):c.5196+1137G>A
|
rs778234759
|
0.00012
|
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
|
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)
|
rs61751286
|
0.00012
|
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00012
|
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00012
|
|
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)
|
rs886041302
|
0.00012
|
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00012
|
|
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter)
|
rs72653744
|
0.00012
|
|
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)
|
rs104893615
|
0.00012
|
|
NM_001298.3(CNGA3):c.1981C>A (p.Arg661Ser)
|
rs183838250
|
0.00012
|
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00012
|
|
NM_002016.2(FLG):c.2362C>T (p.Arg788Ter)
|
rs183942200
|
0.00012
|
|
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)
|
rs150321966
|
0.00012
|
|
NM_004260.4(RECQL4):c.2464-1G>C
|
rs398124117
|
0.00012
|
|
NM_005373.3(MPL):c.391+5G>C
|
rs752453717
|
0.00012
|
|
NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter)
|
rs145838142
|
0.00012
|
|
NM_005559.4(LAMA1):c.858+1G>T
|
rs141914419
|
0.00012
|
|
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)
|
rs200311463
|
0.00012
|
|
NM_006345.4(SLC30A9):c.40del (p.Ser14fs)
|
rs767078182
|
0.00012
|
|
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)
|
rs143027621
|
0.00012
|
|
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys)
|
rs121908487
|
0.00012
|
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00012
|
|
NM_015202.5(KATNIP):c.2373del (p.Asp791fs)
|
rs748450705
|
0.00012
|
|
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp)
|
rs374963946
|
0.00012
|
|
NM_016222.4(DDX41):c.3G>A (p.Met1Ile)
|
rs141601766
|
0.00012
|
|
NM_017872.5(THG1L):c.164T>C (p.Val55Ala)
|
rs201920319
|
0.00012
|
|
NM_018116.4(MSTO1):c.651C>G (p.Phe217Leu)
|
rs776826330
|
0.00012
|
|
NM_018116.4(MSTO1):c.706G>C (p.Asp236His)
|
rs753488873
|
0.00012
|
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00012
|
|
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)
|
rs201041864
|
0.00012
|
|
NM_021074.5(NDUFV2):c.62_63del (p.His21fs)
|
rs754873418
|
0.00012
|
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
|
NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly)
|
rs121908472
|
0.00012
|
|
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter)
|
rs201663789
|
0.00012
|
|
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)
|
rs758217005
|
0.00012
|
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00012
|
|
NM_194436.3(LDHD):c.1319C>T (p.Thr440Met)
|
rs764877688
|
0.00012
|
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00012
|
|
NM_213599.3(ANO5):c.1960C>T (p.Arg654Ter)
|
rs1488095558
|
0.00012
|
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
|
NM_000053.4(ATP7B):c.-676A>G
|
rs1021025464
|
0.00011
|
|
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)
|
rs35138315
|
0.00011
|
|
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)
|
rs199472706
|
0.00011
|
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
|
NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs)
|
rs782339376
|
0.00011
|
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
|
NM_000275.3(OCA2):c.1901T>A (p.Ile634Asn)
|
rs200692258
|
0.00011
|
|
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)
|
rs121964845
|
0.00011
|
|
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)
|
rs104894317
|
0.00011
|
|
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter)
|
rs191912891
|
0.00011
|
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
|
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)
|
rs199669988
|
0.00011
|
|
NM_000487.6(ARSA):c.869G>A (p.Arg290His)
|
rs199476355
|
0.00011
|
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
|
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp)
|
rs104894072
|
0.00011
|
|
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)
|
rs587779406
|
0.00011
|
|
NM_000631.5(NCF4):c.758+50C>T
|
rs201021542
|
0.00011
|
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00011
|
|
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)
|
rs377025174
|
0.00011
|
|
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)
|
rs121908578
|
0.00011
|
|
NM_001080397.3(SLC45A1):c.629C>T (p.Ala210Val)
|
rs150539474
|
0.00011
|
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
|
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln)
|
rs72653772
|
0.00011
|
|
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs)
|
rs751369871
|
0.00011
|
|
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)
|
rs759799287
|
0.00011
|
|
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)
|
rs116040763
|
0.00011
|
|
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)
|
rs78853309
|
0.00011
|
|
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)
|
rs552436294
|
0.00011
|
|
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe)
|
rs527297896
|
0.00011
|
|
NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter)
|
rs61758444
|
0.00011
|
|
NM_001622.4(AHSG):c.4A>T (p.Lys2Ter)
|
rs370627604
|
0.00011
|
|
NM_001739.2(CA5A):c.555G>A (p.Lys185=)
|
rs147623570
|
0.00011
|
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
|
NM_002437.5(MPV17):c.186+2T>C
|
rs147952488
|
0.00011
|
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
|
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)
|
rs397515426
|
0.00011
|
|
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu)
|
rs140649226
|
0.00011
|
|
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)
|
rs200059198
|
0.00011
|
|
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys)
|
rs534438354
|
0.00011
|
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
|
NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala)
|
rs370411488
|
0.00011
|
|
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)
|
rs74315511
|
0.00011
|
|
NM_005186.4(CAPN1):c.1605+5G>A
|
rs375817528
|
0.00011
|
|
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter)
|
rs199638531
|
0.00011
|
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
|
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe)
|
rs370444838
|
0.00011
|
|
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)
|
rs121918342
|
0.00011
|
|
NM_006017.3(PROM1):c.2490-2A>G
|
rs375813885
|
0.00011
|
|
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)
|
rs751459058
|
0.00011
|
|
NM_006567.5(FARS2):c.792del (p.Asp265fs)
|
rs761097220
|
0.00011
|
|
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter)
|
rs774702094
|
0.00011
|
|
NM_014585.6(SLC40A1):c.626C>T (p.Ser209Leu)
|
rs200018415
|
0.00011
|
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
|
NM_014804.3(KIAA0753):c.757C>T (p.Arg253Ter)
|
rs774903749
|
0.00011
|
|
NM_014889.4(PITRM1):c.2792C>T (p.Thr931Met)
|
rs187308159
|
0.00011
|
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
|
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)
|
rs200322968
|
0.00011
|
|
NM_016180.5(SLC45A2):c.264del (p.Gly89fs)
|
rs775387808
|
0.00011
|
|
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp)
|
rs773551819
|
0.00011
|
|
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)
|
rs184435771
|
0.00011
|
|
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)
|
rs372466080
|
0.00011
|
|
NM_016630.7(SPG21):c.118C>T (p.Arg40Ter)
|
rs555126484
|
0.00011
|
|
NM_017763.6(RNF43):c.1207C>T (p.Gln403Ter)
|
rs1436857798
|
0.00011
|
|
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)
|
rs201735454
|
0.00011
|
|
NM_017866.6(TMEM70):c.317-2A>G
|
rs183973249
|
0.00011
|
|
NM_018006.5(TRMU):c.835G>A (p.Val279Met)
|
rs387907022
|
0.00011
|
|
NM_018451.5(CPAP):c.634G>T (p.Glu212Ter)
|
rs765113367
|
0.00011
|
|
NM_018718.3(CEP41):c.107T>C (p.Met36Thr)
|
rs368178632
|
0.00011
|
|
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
|
rs376289130
|
0.00011
|
|
NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val)
|
rs113994022
|
0.00011
|
|
NM_020442.6(VARS2):c.2467-2A>G
|
rs200075594
|
0.00011
|
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
|
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)
|
rs757052602
|
0.00011
|
|
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter)
|
rs199689137
|
0.00011
|
|
NM_024063.3(AFG2B):c.1398T>G (p.Ile466Met)
|
rs34675173
|
0.00011
|
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
|
NM_024666.5(AAGAB):c.1A>G (p.Met1Val)
|
rs539301011
|
0.00011
|
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
|
NM_030777.4(SLC2A10):c.1411+2T>A
|
rs761721442
|
0.00011
|
|
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys)
|
rs202073531
|
0.00011
|
|
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)
|
rs183276875
|
0.00011
|
|
NM_078470.6(COX15):c.396-3C>G
|
rs200910834
|
0.00011
|
|
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)
|
rs751084512
|
0.00011
|
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
|
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)
|
rs769114543
|
0.00011
|
|
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser)
|
rs369010851
|
0.00011
|
|
NM_144991.3(TSPEAR):c.38del (p.Leu13fs)
|
rs778688031
|
0.00011
|
|
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)
|
rs369292480
|
0.00011
|
|
NM_152783.5(D2HGDH):c.685-2A>G
|
rs753528947
|
0.00011
|
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
|
NM_177924.5(ASAH1):c.1154T>C (p.Leu385Pro)
|
rs368345612
|
0.00011
|
|
NM_203395.3(IYD):c.658G>A (p.Ala220Thr)
|
rs121918140
|
0.00011
|
|
NM_206538.4(EMC10):c.343C>T (p.Arg115Ter)
|
rs151303712
|
0.00011
|
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00011
|
|
NR_029422.2(RNU12):n.86G>A
|
rs548281798
|
0.00011
|
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
|
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)
|
rs368545738
|
0.00010
|
|
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro)
|
rs104893684
|
0.00010
|
|
NM_000071.3(CBS):c.362G>A (p.Arg121His)
|
rs770095972
|
0.00010
|
|
NM_000071.3(CBS):c.700G>A (p.Asp234Asn)
|
rs773734233
|
0.00010
|
|
NM_000071.3(CBS):c.770C>T (p.Thr257Met)
|
rs758236584
|
0.00010
|
|
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)
|
rs368404711
|
0.00010
|
|
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe)
|
rs749895856
|
0.00010
|
|
NM_000128.4(F11):c.1613C>T (p.Pro538Leu)
|
rs139695003
|
0.00010
|
|
NM_000153.4(GALC):c.195G>C (p.Gly65=)
|
rs886042057
|
0.00010
|
|
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)
|
rs376790302
|
0.00010
|
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
|
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)
|
rs200764804
|
0.00010
|
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
|
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)
|
rs139185976
|
0.00010
|
|
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)
|
rs779585931
|
0.00010
|
|
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala)
|
rs121908863
|
0.00010
|
|
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)
|
rs201633414
|
0.00010
|
|
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp)
|
rs56199535
|
0.00010
|
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00010
|
|
NM_000443.4(ABCB4):c.3370dup (p.Cys1124fs)
|
rs1315110517
|
0.00010
|
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00010
|
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
|
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His)
|
rs121434407
|
0.00010
|
|
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter)
|
rs200451408
|
0.00010
|
|
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter)
|
rs118203989
|
0.00010
|
|
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu)
|
rs375761361
|
0.00010
|
|
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)
|
rs140404896
|
0.00010
|
|
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)
|
rs150046661
|
0.00010
|
|
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)
|
rs199870606
|
0.00010
|
|
NM_001136193.2(FASTKD2):c.882-1G>A
|
rs767682048
|
0.00010
|
|
NM_001194998.2(CEP152):c.3249del (p.Val1084fs)
|
rs754267846
|
0.00010
|
|
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)
|
rs141744337
|
0.00010
|
|
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)
|
rs370912401
|
0.00010
|
|
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)
|
rs202134424
|
0.00010
|
|
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter)
|
rs1407028917
|
0.00010
|
|
NM_001297.5(CNGB1):c.413-1G>A
|
rs189234741
|
0.00010
|
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
|
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00010
|
|
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)
|
rs149977726
|
0.00010
|
|
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter)
|
rs567795279
|
0.00010
|
|
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)
|
rs137853074
|
0.00010
|
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
|
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter)
|
rs149096315
|
0.00010
|
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00010
|
|
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys)
|
rs540217942
|
0.00010
|
|
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp)
|
rs201253919
|
0.00010
|
|
NM_004184.4(WARS1):c.1255G>A (p.Asp419Asn)
|
rs550196955
|
0.00010
|
|
NM_004608.4(TBX6):c.434C>T (p.Pro145Leu)
|
rs202193096
|
0.00010
|
|
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)
|
rs748289202
|
0.00010
|
|
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)
|
rs121917840
|
0.00010
|
|
NM_006371.5(CRTAP):c.471+2C>A
|
rs137853943
|
0.00010
|
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
|
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs)
|
rs766372684
|
0.00010
|
|
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)
|
rs200321595
|
0.00010
|
|
NM_016327.3(UPB1):c.105-2A>G
|
rs138081800
|
0.00010
|
|
NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu)
|
rs202003795
|
0.00010
|
|
NM_018082.6(POLR3B):c.2084-6A>G
|
rs747912710
|
0.00010
|
|
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)
|
rs138884194
|
0.00010
|
|
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp)
|
rs139515727
|
0.00010
|
|
NM_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs)
|
rs774193816
|
0.00010
|
|
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter)
|
rs146195866
|
0.00010
|
|
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)
|
rs121918420
|
0.00010
|
|
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His)
|
rs119480069
|
0.00010
|
|
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)
|
rs771336246
|
0.00010
|
|
NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu)
|
rs121909637
|
0.00010
|
|
NM_025129.5(FUZ):c.98_111+9del
|
rs548706733
|
0.00010
|
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00010
|
|
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)
|
rs146579504
|
0.00010
|
|
NM_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter)
|
rs140352254
|
0.00010
|
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
|
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00010
|
|
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser)
|
rs149992595
|
0.00010
|
|
NM_152443.3(RDH12):c.701G>A (p.Arg234His)
|
rs750636662
|
0.00010
|
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
|
NM_153704.6(TMEM67):c.224-2del
|
rs386834190
|
0.00010
|
|
NM_153766.3(KCNJ1):c.875G>A (p.Arg292Gln)
|
rs373198476
|
0.00010
|
|
NM_176787.5(PIGN):c.548_549+6del
|
rs779636222
|
0.00010
|
|
NM_176824.3(BBS7):c.968A>G (p.His323Arg)
|
rs119466001
|
0.00010
|
|
NM_177531.6(PKHD1L1):c.7437C>A (p.His2479Gln)
|
rs529097022
|
0.00010
|
|
NM_198994.3(TGM6):c.980A>G (p.Asp327Gly)
|
rs387907098
|
0.00010
|
|
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)
|
rs191582628
|
0.00010
|
|
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly)
|
rs199501657
|
0.00010
|
|
NR_003051.4(RMRP):n.244A>G
|
rs551450545
|
0.00010
|
|
NM_000017.4(ACADS):c.989G>A (p.Arg330His)
|
rs199633532
|
0.00009
|
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
|
NM_000022.4(ADA):c.632G>A (p.Arg211His)
|
rs121908716
|
0.00009
|
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
0.00009
|
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
|
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
|
rs762866453
|
0.00009
|
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00009
|
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00009
|
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
|
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile)
|
rs765779905
|
0.00009
|
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00009
|
|
NM_000277.3(PAH):c.434A>T (p.Asp145Val)
|
rs140175796
|
0.00009
|
|
NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00009
|
|
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)
|
rs369641941
|
0.00009
|
|
NM_000348.4(SRD5A2):c.196G>A (p.Gly66Arg)
|
rs550866120
|
0.00009
|
|
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg)
|
rs368386747
|
0.00009
|
|
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)
|
rs9332967
|
0.00009
|
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
0.00009
|
|
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)
|
rs142253670
|
0.00009
|
|
NM_000350.3(ABCA4):c.71G>A (p.Arg24His)
|
rs62645958
|
0.00009
|
|
NM_000360.4(TH):c.1358G>A (p.Arg453His)
|
rs759599321
|
0.00009
|
|
NM_000372.5(TYR):c.325G>A (p.Gly109Arg)
|
rs61753253
|
0.00009
|
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00009
|
|
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
|
rs144467873
|
0.00009
|
|
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His)
|
rs72558200
|
0.00009
|
|
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)
|
rs193922461
|
0.00009
|
|
NM_000477.7(ALB):c.725G>A (p.Arg242His)
|
rs75002628
|
0.00009
|
|
NM_000485.3(APRT):c.334A>T (p.Ile112Phe)
|
rs767177754
|
0.00009
|
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
rs201573863
|
0.00009
|
|
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461
|
0.00009
|
|
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)
|
rs151207122
|
0.00009
|
|
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)
|
rs779769525
|
0.00009
|
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00009
|
|
NM_000558.5(HBA1):c.237del (p.Asn79fs)
|
rs767911847
|
0.00009
|
|
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)
|
rs121918608
|
0.00009
|
|
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)
|
rs398123508
|
0.00009
|
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
|
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)
|
rs199830292
|
0.00009
|
|
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
|
rs118203957
|
0.00009
|
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
|
NM_001061.7(TBXAS1):c.245T>C (p.Leu82Pro)
|
rs140005285
|
0.00009
|
|
NM_001061.7(TBXAS1):c.856C>T (p.Arg286Ter)
|
rs766799764
|
0.00009
|
|
NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp)
|
rs141257714
|
0.00009
|
|
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)
|
rs370778353
|
0.00009
|
|
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln)
|
rs201727231
|
0.00009
|
|
NM_001102564.3(IFT43):c.100G>A (p.Glu34Lys)
|
rs140366557
|
0.00009
|
|
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)
|
rs121909380
|
0.00009
|
|
NM_001126108.2(SLC12A3):c.602-16G>A
|
rs750901478
|
0.00009
|
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
|
NM_001171613.2(PREPL):c.1753+1G>T
|
rs148092524
|
0.00009
|
|
NM_001177701.3(IFT27):c.352+1G>T
|
rs780659194
|
0.00009
|
|
NM_001184.4(ATR):c.6897+464C>G
|
rs587777852
|
0.00009
|
|
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
0.00009
|
|
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)
|
rs376478015
|
0.00009
|
|
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)
|
rs139805921
|
0.00009
|
|
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln)
|
rs139484231
|
0.00009
|
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
|
NM_001297.5(CNGB1):c.2794+1G>A
|
rs770011113
|
0.00009
|
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
|
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)
|
rs121918232
|
0.00009
|
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
|
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)
|
rs777425801
|
0.00009
|
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
|
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter)
|
rs377708973
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00009
|
|
NM_001395891.1(CLASP1):c.196-591C>T
|
rs756026847
|
0.00009
|
|
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg)
|
rs121964881
|
0.00009
|
|
NM_002016.2(FLG):c.3059C>G (p.Ser1020Ter)
|
rs200360684
|
0.00009
|
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
|
NM_002905.5(RDH5):c.500G>A (p.Arg167His)
|
rs199877211
|
0.00009
|
|
NM_002979.5(SCP2):c.825+1G>T
|
rs144132787
|
0.00009
|
|
NM_003041.4(SLC5A2):c.506del (p.Ala169fs)
|
rs768095044
|
0.00009
|
|
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)
|
rs60376624
|
0.00009
|
|
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs)
|
rs751845138
|
0.00009
|
|
NM_003193.5(TBCE):c.100+1G>A
|
rs200356271
|
0.00009
|
|
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
|
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)
|
rs121908686
|
0.00009
|
|
NM_003573.2(LTBP4):c.254del (p.Leu85fs)
|
rs747013505
|
0.00009
|
|
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)
|
rs121434410
|
0.00009
|
|
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00009
|
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
|
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)
|
rs375032130
|
0.00009
|
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
|
NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter)
|
rs137853131
|
0.00009
|
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
|
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)
|
rs371709824
|
0.00009
|
|
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys)
|
rs200129338
|
0.00009
|
|
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)
|
rs536758576
|
0.00009
|
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
|
NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr)
|
rs139008774
|
0.00009
|
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00009
|
|
NM_014140.4(SMARCAL1):c.2070+2dup
|
rs762716070
|
0.00009
|
|
NM_014251.3(SLC25A13):c.848+3A>C
|
rs369402461
|
0.00009
|
|
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)
|
rs200844390
|
0.00009
|
|
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)
|
rs199826737
|
0.00009
|
|
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)
|
rs377357931
|
0.00009
|
|
NM_015681.6(B9D1):c.341+2T>C
|
rs143149764
|
0.00009
|
|
NM_016327.3(UPB1):c.873+1G>A
|
rs747539101
|
0.00009
|
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
|
NM_018451.5(CPAP):c.1586C>G (p.Ser529Ter)
|
rs202058504
|
0.00009
|
|
NM_019616.4(F7):c.854G>A (p.Arg285His)
|
rs121964929
|
0.00009
|
|
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)
|
rs368728266
|
0.00009
|
|
NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter)
|
rs143740376
|
0.00009
|
|
NM_021871.4(FGA):c.510+1G>T
|
rs146387238
|
0.00009
|
|
NM_021957.4(GYS2):c.495+1G>T
|
rs372079212
|
0.00009
|
|
NM_022089.4(ATP13A2):c.477+2T>G
|
rs758014228
|
0.00009
|
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00009
|
|
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter)
|
rs752473648
|
0.00009
|
|
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)
|
rs104894705
|
0.00009
|
|
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)
|
rs79746977
|
0.00009
|
|
NM_024854.5(PYROXD1):c.285+1G>A
|
rs369083786
|
0.00009
|
|
NM_024876.4(COQ8B):c.1560G>A (p.Trp520Ter)
|
rs369205319
|
0.00009
|
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
|
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)
|
rs121908121
|
0.00009
|
|
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
0.00009
|
|
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs)
|
rs730882143
|
0.00009
|
|
NM_032119.4(ADGRV1):c.14973-2A>G
|
rs371981035
|
0.00009
|
|
NM_033419.5(PGAP3):c.558-10G>A
|
rs200598755
|
0.00009
|
|
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter)
|
rs138329739
|
0.00009
|
|
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)
|
rs373514077
|
0.00009
|
|
NM_054012.4(ASS1):c.245T>C (p.Leu82Pro)
|
rs559043503
|
0.00009
|
|
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)
|
rs138207257
|
0.00009
|
|
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
|
rs80338694
|
0.00009
|
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
|
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys)
|
rs121909448
|
0.00009
|
|
NM_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys)
|
rs148284531
|
0.00009
|
|
NM_145886.4(PIDD1):c.2042-2A>G
|
rs199752248
|
0.00009
|
|
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
|
rs147227819
|
0.00009
|
|
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)
|
rs144948296
|
0.00009
|
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
|
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)
|
rs267607119
|
0.00009
|
|
NM_181426.2(CCDC39):c.610-2A>G
|
rs756235547
|
0.00009
|
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00009
|
|
NM_198253.3(TERT):c.2320C>T (p.Arg774Ter)
|
rs770066110
|
0.00009
|
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
|
NM_206933.4(USH2A):c.4397-1G>A
|
rs199982344
|
0.00009
|
|
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
|
rs151057466
|
0.00009
|
|
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys)
|
rs138444697
|
0.00009
|
|
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)
|
rs143739249
|
0.00009
|
|
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)
|
rs28940872
|
0.00008
|
|
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)
|
rs121908003
|
0.00008
|
|
NM_000022.4(ADA):c.221G>T (p.Gly74Val)
|
rs199422328
|
0.00008
|
|
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)
|
rs767543051
|
0.00008
|
|
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)
|
rs143508372
|
0.00008
|
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00008
|
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00008
|
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00008
|
|
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu)
|
rs121917868
|
0.00008
|
|
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)
|
rs56010818
|
0.00008
|
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00008
|
|
NM_000133.4(F9):c.1345C>T (p.Arg449Trp)
|
rs757996262
|
0.00008
|
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00008
|
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00008
|
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00008
|
|
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)
|
rs587782962
|
0.00008
|
|
NM_000274.4(OAT):c.539G>C (p.Arg180Thr)
|
rs121965040
|
0.00008
|
|
NM_000275.3(OCA2):c.1503+5G>A
|
rs368124046
|
0.00008
|
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
|
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)
|
rs76394784
|
0.00008
|
|
NM_000312.4(PROC):c.226G>A (p.Val76Met)
|
rs121918149
|
0.00008
|
|
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
|
rs774130993
|
0.00008
|
|
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)
|
rs199473072
|
0.00008
|
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
|
NM_000359.3(TGM1):c.420A>G (p.Ile140Met)
|
rs139208806
|
0.00008
|
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
|
NM_000372.5(TYR):c.613C>A (p.Pro205Thr)
|
rs61754362
|
0.00008
|
|
NM_000383.4(AIRE):c.1095+2T>C
|
rs760280615
|
0.00008
|
|
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)
|
rs762780994
|
0.00008
|
|
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)
|
rs137852328
|
0.00008
|
|
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)
|
rs564428355
|
0.00008
|
|
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
|
NM_000782.5(CYP24A1):c.475C>T (p.Arg159Trp)
|
rs202070065
|
0.00008
|
|
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)
|
rs139842473
|
0.00008
|
|
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)
|
rs144885874
|
0.00008
|
|
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)
|
rs148038173
|
0.00008
|
|
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met)
|
rs145337602
|
0.00008
|
|
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)
|
rs373901523
|
0.00008
|
|
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)
|
rs202114767
|
0.00008
|
|
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys)
|
rs28939702
|
0.00008
|
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
|
NM_001363711.2(DUOX2):c.3693+1G>T
|
rs200717240
|
0.00008
|
|
NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser)
|
rs368512412
|
0.00008
|
|
NM_001378615.1(CC2D2A):c.1017+1G>A
|
rs200407856
|
0.00008
|
|
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)
|
rs375305567
|
0.00008
|
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
|
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)
|
rs104894407
|
0.00008
|
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
|
NM_004614.5(TK2):c.416C>T (p.Ala139Val)
|
rs281865494
|
0.00008
|
|
NM_004837.4(GGPS1):c.782G>A (p.Arg261His)
|
rs1262402879
|
0.00008
|
|
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs)
|
rs748531024
|
0.00008
|
|
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu)
|
rs121434322
|
0.00008
|
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00008
|
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
|
NM_006017.3(PROM1):c.1276dup (p.Thr426fs)
|
rs747800874
|
0.00008
|
|
NM_006363.6(SEC23B):c.835-2A>G
|
rs371646735
|
0.00008
|
|
NM_006767.4(LZTR1):c.1943-256C>T
|
rs761685529
|
0.00008
|
|
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser)
|
rs930347206
|
0.00008
|
|
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)
|
rs180177314
|
0.00008
|
|
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys)
|
rs140540222
|
0.00008
|
|
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter)
|
rs144744629
|
0.00008
|
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
|
NM_014967.5(FAN1):c.2128C>T (p.Arg710Ter)
|
rs199845994
|
0.00008
|
|
NM_015599.3(PGM3):c.310A>T (p.Arg104Ter)
|
rs1033477931
|
0.00008
|
|
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)
|
rs369483167
|
0.00008
|
|
NM_016123.4(IRAK4):c.547C>T (p.Arg183Ter)
|
rs114951157
|
0.00008
|
|
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)
|
rs376469502
|
0.00008
|
|
NM_016239.4(MYO15A):c.6764+2T>A
|
rs763975867
|
0.00008
|
|
NM_018116.4(MSTO1):c.836G>A (p.Arg279His)
|
rs563943670
|
0.00008
|
|
NM_018344.6(SLC29A3):c.347T>G (p.Met116Arg)
|
rs267607057
|
0.00008
|
|
NM_018480.7(TMEM126B):c.397G>A (p.Asp133Asn)
|
rs573006534
|
0.00008
|
|
NM_019616.4(F7):c.1085C>T (p.Thr362Met)
|
rs531225271
|
0.00008
|
|
NM_019616.4(F7):c.413A>G (p.Gln138Arg)
|
rs200016360
|
0.00008
|
|
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)
|
rs119103213
|
0.00008
|
|
NM_021615.5(CHST6):c.1A>T (p.Met1Leu)
|
rs755563003
|
0.00008
|
|
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)
|
rs756147087
|
0.00008
|
|
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro)
|
rs769576789
|
0.00008
|
|
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)
|
rs137852989
|
0.00008
|
|
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)
|
rs752924362
|
0.00008
|
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00008
|
|
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)
|
rs267606941
|
0.00008
|
|
NM_025243.4(SLC19A3):c.980-14A>G
|
rs200542114
|
0.00008
|
|
NM_032551.5(KISS1R):c.1195T>A (p.Ter399Arg)
|
rs104894702
|
0.00008
|
|
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)
|
rs374698153
|
0.00008
|
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
|
NM_139248.3(LIPH):c.789del (p.Ser262_Cys263insTer)
|
rs760309219
|
0.00008
|
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00008
|
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
|
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
|
rs762114560
|
0.00007
|
|
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)
|
rs121434278
|
0.00007
|
|
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)
|
rs121908739
|
0.00007
|
|
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)
|
rs146525143
|
0.00007
|
|
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)
|
rs28940286
|
0.00007
|
|
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro)
|
rs199610988
|
0.00007
|
|
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)
|
rs121909132
|
0.00007
|
|
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg)
|
rs371172166
|
0.00007
|
|
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter)
|
rs189768576
|
0.00007
|
|
NM_000111.3(SLC26A3):c.571-2A>G
|
rs386833486
|
0.00007
|
|
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)
|
rs587778281
|
0.00007
|
|
NM_000130.5(F5):c.1001G>C (p.Arg334Thr)
|
rs118203906
|
0.00007
|
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00007
|
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00007
|
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
|
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu)
|
rs150146721
|
0.00007
|
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00007
|
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
|
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)
|
rs150938052
|
0.00007
|
|
NM_000187.4(HGD):c.125A>C (p.Glu42Ala)
|
rs373921680
|
0.00007
|
|
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)
|
rs536814318
|
0.00007
|
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00007
|
|
NM_000204.5(CFI):c.1019T>C (p.Ile340Thr)
|
rs769419740
|
0.00007
|
|
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)
|
rs752492870
|
0.00007
|
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00007
|
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00007
|
|
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00007
|
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
|
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala)
|
rs104894030
|
0.00007
|
|
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter)
|
rs371296953
|
0.00007
|
|
NM_000293.3(PHKB):c.1127-2A>G
|
rs535749057
|
0.00007
|
|
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter)
|
rs149244943
|
0.00007
|
|
NM_000303.3(PMM2):c.255+2T>C
|
rs139716296
|
0.00007
|
|
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)
|
rs199473625
|
0.00007
|
|
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)
|
rs149071415
|
0.00007
|
|
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)
|
rs62642575
|
0.00007
|
|
NM_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00007
|
|
NM_000374.5(UROD):c.995G>A (p.Arg332His)
|
rs121918066
|
0.00007
|
|
NM_000383.4(AIRE):c.652+1G>T
|
rs199612115
|
0.00007
|
|
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter)
|
rs17222547
|
0.00007
|
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00007
|
|
NM_000431.4(MVK):c.346T>C (p.Tyr116His)
|
rs104895382
|
0.00007
|
|
NM_000479.5(AMH):c.905G>A (p.Arg302Gln)
|
rs536688211
|
0.00007
|
|
NM_000486.6(AQP2):c.439G>A (p.Ala147Thr)
|
rs104894334
|
0.00007
|
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
0.00007
|
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00007
|
|
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)
|
rs770199817
|
0.00007
|
|
NM_000518.5(HBB):c.389C>T (p.Ala130Val)
|
rs111645889
|
0.00007
|
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
|
NM_000520.6(HEXA):c.459+5G>A
|
rs762060470
|
0.00007
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
rs146200173
|
0.00007
|
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00007
|
|
NM_000552.5(VWF):c.658-3C>A
|
rs377196768
|
0.00007
|
|
NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter)
|
rs1480850606
|
0.00007
|
|
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)
|
rs147750704
|
0.00007
|
|
NM_001017420.3(ESCO2):c.1132-7A>G
|
rs80359862
|
0.00007
|
|
NM_001034116.2(EIF2B4):c.1120C>T (p.Arg374Cys)
|
rs113994035
|
0.00007
|
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
|
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)
|
rs768849283
|
0.00007
|
|
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
|
rs62641228
|
0.00007
|
|
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00007
|
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
|
NM_001145026.2(PTPRQ):c.6556C>T (p.Arg2186Ter)
|
rs933245871
|
0.00007
|
|
NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00007
|
|
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp)
|
rs374086268
|
0.00007
|
|
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg)
|
rs121918237
|
0.00007
|
|
NM_001199799.2(ILDR1):c.775C>T (p.Arg259Ter)
|
rs920852517
|
0.00007
|
|
NM_001303.4(COX10):c.1007A>T (p.Asp336Val)
|
rs104894557
|
0.00007
|
|
NM_001349206.2(LPIN1):c.1807-2A>G
|
rs533651991
|
0.00007
|
|
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)
|
rs80338862
|
0.00007
|
|
NM_001364171.2(ODAD1):c.1502+5G>A
|
rs201133219
|
0.00007
|
|
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly)
|
rs727502974
|
0.00007
|
|
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)
|
rs771487311
|
0.00007
|
|
NM_001378609.3(OTOGL):c.1585C>T (p.Gln529Ter)
|
rs371465450
|
0.00007
|
|
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)
|
rs201101621
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.3676C>T (p.Arg1226Ter)
|
rs749421099
|
0.00007
|
|
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)
|
rs374420253
|
0.00007
|
|
NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly)
|
rs778264897
|
0.00007
|
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00007
|
|
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)
|
rs121913037
|
0.00007
|
|
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp)
|
rs757369063
|
0.00007
|
|
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter)
|
rs17854600
|
0.00007
|
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
|
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)
|
rs375401970
|
0.00007
|
|
NM_002528.7(NTHL1):c.526-1G>A
|
rs779757251
|
0.00007
|
|
NM_002591.4(PCK1):c.1268C>T (p.Pro423Leu)
|
rs148603002
|
0.00007
|
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
|
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs)
|
rs387906314
|
0.00007
|
|
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)
|
rs199529046
|
0.00007
|
|
NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter)
|
rs149562813
|
0.00007
|
|
NM_005006.7(NDUFS1):c.1393-2A>C
|
rs370009373
|
0.00007
|
|
NM_005262.3(GFER):c.373C>T (p.Gln125Ter)
|
rs771809901
|
0.00007
|
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00007
|
|
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)
|
rs137852761
|
0.00007
|
|
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)
|
rs587781442
|
0.00007
|
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
|
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)
|
rs779598020
|
0.00007
|
|
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys)
|
rs141210410
|
0.00007
|
|
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln)
|
rs1364709483
|
0.00007
|
|
NM_006059.4(LAMC3):c.3871C>T (p.Arg1291Ter)
|
rs201793200
|
0.00007
|
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
|
NM_006793.5(PRDX3):c.425C>G (p.Ala142Gly)
|
rs202061531
|
0.00007
|
|
NM_006907.4(PYCR1):c.633+1G>C
|
rs144346996
|
0.00007
|
|
NM_007059.4(KPTN):c.394+1G>A
|
rs373139784
|
0.00007
|
|
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)
|
rs774654020
|
0.00007
|
|
NM_012203.2(GRHPR):c.626C>T (p.Ser209Phe)
|
rs375014308
|
0.00007
|
|
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)
|
rs386833988
|
0.00007
|
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
|
NM_013328.4(PYCR2):c.596G>A (p.Arg199Gln)
|
rs376952965
|
0.00007
|
|
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)
|
rs104894425
|
0.00007
|
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00007
|
|
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)
|
rs142375551
|
0.00007
|
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
|
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)
|
rs771157170
|
0.00007
|
|
NM_016035.5(COQ4):c.202G>C (p.Asp68His)
|
rs758522459
|
0.00007
|
|
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)
|
rs762890562
|
0.00007
|
|
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His)
|
rs376351191
|
0.00007
|
|
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)
|
rs149035108
|
0.00007
|
|
NM_019023.5(PRMT7):c.1056-1G>T
|
rs201824659
|
0.00007
|
|
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His)
|
rs781691587
|
0.00007
|
|
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)
|
rs373862340
|
0.00007
|
|
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)
|
rs200105202
|
0.00007
|
|
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)
|
rs201850378
|
0.00007
|
|
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)
|
rs765632065
|
0.00007
|
|
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp)
|
rs397517333
|
0.00007
|
|
NM_024105.4(ALG12):c.295+1G>A
|
rs376314741
|
0.00007
|
|
NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp)
|
rs368572297
|
0.00007
|
|
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)
|
rs199473678
|
0.00007
|
|
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)
|
rs121908646
|
0.00007
|
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
|
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)
|
rs202047589
|
0.00007
|
|
NM_139027.6(ADAMTS13):c.3482T>C (p.Ile1161Thr)
|
rs200847393
|
0.00007
|
|
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
|
rs564427867
|
0.00007
|
|
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)
|
rs375661404
|
0.00007
|
|
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)
|
rs137852850
|
0.00007
|
|
NM_198239.2(CCN6):c.862_863dup (p.Gln289fs)
|
rs863223286
|
0.00007
|
|
NM_199069.2(NDUFAF3):c.489_490del (p.Gly164fs)
|
rs746835381
|
0.00007
|
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00007
|
|
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)
|
rs104894419
|
0.00007
|
|
NM_213599.3(ANO5):c.41-1G>A
|
rs398124625
|
0.00007
|
|
NR_003051.3(RMRP):n.-22_-13dup10
|
rs1554651507
|
0.00007
|
|
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr)
|
rs760892123
|
0.00006
|
|
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)
|
rs767774362
|
0.00006
|
|
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)
|
rs539219309
|
0.00006
|
|
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)
|
rs121908006
|
0.00006
|
|
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)
|
rs775537775
|
0.00006
|
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00006
|
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
|
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)
|
rs762991875
|
0.00006
|
|
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)
|
rs180177180
|
0.00006
|
|
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)
|
rs759396688
|
0.00006
|
|
NM_000048.4(ASL):c.688A>G (p.Met230Val)
|
rs143957662
|
0.00006
|
|
NM_000049.4(ASPA):c.746A>T (p.Asp249Val)
|
rs104894552
|
0.00006
|
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
0.00006
|
|
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
|
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)
|
rs767106920
|
0.00006
|
|
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)
|
rs201736037
|
0.00006
|
|
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)
|
rs121434548
|
0.00006
|
|
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)
|
rs777685454
|
0.00006
|
|
NM_000085.5(CLCNKB):c.508G>A (p.Val170Met)
|
rs202064075
|
0.00006
|
|
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)
|
rs767539005
|
0.00006
|
|
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=)
|
rs201728948
|
0.00006
|
|
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)
|
rs121918528
|
0.00006
|
|
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp)
|
rs179363892
|
0.00006
|
|
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)
|
rs104894138
|
0.00006
|
|
NM_000110.4(DPYD):c.2579del (p.Gln860fs)
|
rs746991079
|
0.00006
|
|
NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln)
|
rs727502811
|
0.00006
|
|
NM_000124.4(ERCC6):c.2599-26A>G
|
rs4253196
|
0.00006
|
|
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)
|
rs753909969
|
0.00006
|
|
NM_000128.4(F11):c.943G>A (p.Glu315Lys)
|
rs281875257
|
0.00006
|
|
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
|
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)
|
rs193922233
|
0.00006
|
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
|
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr)
|
rs751975987
|
0.00006
|
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
|
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)
|
rs372983141
|
0.00006
|
|
NM_000166.6(GJB1):c.37G>A (p.Val13Met)
|
rs104894820
|
0.00006
|
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
|
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)
|
rs121964980
|
0.00006
|
|
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp)
|
rs764006338
|
0.00006
|
|
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)
|
rs120074174
|
0.00006
|
|
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
|
NM_000193.4(SHH):c.676G>A (p.Ala226Thr)
|
rs104894043
|
0.00006
|
|
NM_000204.5(CFI):c.148C>G (p.Pro50Ala)
|
rs144082872
|
0.00006
|
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00006
|
|
NM_000237.3(LPL):c.292G>A (p.Ala98Thr)
|
rs145657341
|
0.00006
|
|
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg)
|
rs747897332
|
0.00006
|
|
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)
|
rs781474200
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
|
NM_000260.4(MYO7A):c.99_100del (p.Gly34fs)
|
rs782312060
|
0.00006
|
|
NM_000270.4(PNP):c.701G>C (p.Arg234Pro)
|
rs104894451
|
0.00006
|
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
|
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)
|
rs142988897
|
0.00006
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
0.00006
|
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
0.00006
|
|
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys)
|
rs374156343
|
0.00006
|
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
|
NM_000294.3(PHKG2):c.96-11G>A
|
rs751600886
|
0.00006
|
|
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)
|
rs368582085
|
0.00006
|
|
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)
|
rs150719105
|
0.00006
|
|
NM_000310.4(PPT1):c.541G>A (p.Val181Met)
|
rs148412181
|
0.00006
|
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
|
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys)
|
rs375399468
|
0.00006
|
|
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp)
|
rs201502095
|
0.00006
|
|
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)
|
rs752786160
|
0.00006
|
|
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln)
|
rs61749410
|
0.00006
|
|
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)
|
rs61750202
|
0.00006
|
|
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)
|
rs756840095
|
0.00006
|
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00006
|
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
|
NM_000375.3(UROS):c.63+1G>A
|
rs373864821
|
0.00006
|
|
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)
|
rs72547561
|
0.00006
|
|
NM_000383.4(AIRE):c.798+1G>A
|
rs138489664
|
0.00006
|
|
NM_000392.5(ABCC2):c.974C>G (p.Ser325Ter)
|
rs371866713
|
0.00006
|
|
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)
|
rs144071404
|
0.00006
|
|
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)
|
rs371582179
|
0.00006
|
|
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys)
|
rs104893843
|
0.00006
|
|
NM_000406.3(GNRHR):c.836G>A (p.Cys279Tyr)
|
rs763161932
|
0.00006
|
|
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)
|
rs76811038
|
0.00006
|
|
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)
|
rs1374568851
|
0.00006
|
|
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)
|
rs794727594
|
0.00006
|
|
NM_000440.3(PDE6A):c.2053G>A (p.Val685Met)
|
rs121909835
|
0.00006
|
|
NM_000440.3(PDE6A):c.2275-1G>A
|
rs1428612396
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)
|
rs111033316
|
0.00006
|
|
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
|
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
|
rs121918014
|
0.00006
|
|
NM_000478.6(ALPL):c.407G>A (p.Arg136His)
|
rs121918011
|
0.00006
|
|
NM_000478.6(ALPL):c.575T>C (p.Met192Thr)
|
rs765011829
|
0.00006
|
|
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)
|
rs386833680
|
0.00006
|
|
NM_000485.3(APRT):c.160C>G (p.His54Asp)
|
rs752977102
|
0.00006
|
|
NM_000486.6(AQP2):c.211G>A (p.Val71Met)
|
rs149659001
|
0.00006
|
|
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)
|
rs74315475
|
0.00006
|
|
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)
|
rs397508272
|
0.00006
|
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
|
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile)
|
rs397508636
|
0.00006
|
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
|
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met)
|
rs375833424
|
0.00006
|
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
|
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)
|
rs41464951
|
0.00006
|
|
NM_000517.6(HBA2):c.69del (p.Glu24fs)
|
rs1270810159
|
0.00006
|
|
NM_000518.5(HBB):c.75T>A (p.Gly25=)
|
rs33951465
|
0.00006
|
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
|
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)
|
rs373869746
|
0.00006
|
|
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)
|
rs747507019
|
0.00006
|
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
|
NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu)
|
rs760203204
|
0.00006
|
|
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys)
|
rs201789348
|
0.00006
|
|
NM_000587.4(C7):c.1135G>C (p.Gly379Arg)
|
rs121964921
|
0.00006
|
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
|
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln)
|
rs143934667
|
0.00006
|
|
NM_000821.7(GGCX):c.763G>A (p.Val255Met)
|
rs121909683
|
0.00006
|
|
NM_000821.7(GGCX):c.938_939del (p.Pro313fs)
|
rs753122975
|
0.00006
|
|
NM_001002294.3(FMO3):c.929C>T (p.Ser310Leu)
|
rs572292275
|
0.00006
|
|
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
|
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu)
|
rs143353451
|
0.00006
|
|
NM_001077365.2(POMT1):c.579_580del (p.Val195fs)
|
rs1032439203
|
0.00006
|
|
NM_001080442.3(SLC38A8):c.697G>A (p.Glu233Lys)
|
rs372929441
|
0.00006
|
|
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met)
|
rs187885782
|
0.00006
|
|
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr)
|
rs201945662
|
0.00006
|
|
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp)
|
rs559626481
|
0.00006
|
|
NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys)
|
rs121434272
|
0.00006
|
|
NM_001139.3(ALOX12B):c.1163C>T (p.Ala388Val)
|
rs202128350
|
0.00006
|
|
NM_001139.3(ALOX12B):c.1654+3A>G
|
rs371537819
|
0.00006
|
|
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)
|
rs760798455
|
0.00006
|
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
|
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
|
NM_001159773.2(CANT1):c.228dup (p.Trp77fs)
|
rs587776896
|
0.00006
|
|
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)
|
rs1458048713
|
0.00006
|
|
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)
|
rs72653788
|
0.00006
|
|
NM_001171.6(ABCC6):c.2542del (p.Met848fs)
|
rs67867306
|
0.00006
|
|
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln)
|
rs60791294
|
0.00006
|
|
NM_001256545.2(MEGF10):c.2857-2A>G
|
rs199750143
|
0.00006
|
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
|
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)
|
rs200693106
|
0.00006
|
|
NM_001283.5(AP1S1):c.291+2T>A
|
rs1310110289
|
0.00006
|
|
NM_001283009.2(RTEL1):c.3110-2A>T
|
rs377461417
|
0.00006
|
|
NM_001292063.2(OTOG):c.3187C>T (p.Arg1063Ter)
|
rs1234811014
|
0.00006
|
|
NM_001305581.2(LRMDA):c.664C>T (p.Arg222Ter)
|
rs587776952
|
0.00006
|
|
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp)
|
rs104893970
|
0.00006
|
|
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp)
|
rs372246702
|
0.00006
|
|
NM_001358530.2(MOCS1):c.418+1G>A
|
rs141982812
|
0.00006
|
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
|
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)
|
rs201947120
|
0.00006
|
|
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter)
|
rs119472028
|
0.00006
|
|
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)
|
rs200901816
|
0.00006
|
|
NM_001370658.1(BTD):c.566G>A (p.Arg189His)
|
rs398123139
|
0.00006
|
|
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn)
|
rs137853120
|
0.00006
|
|
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His)
|
rs770380730
|
0.00006
|
|
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr)
|
rs1196317554
|
0.00006
|
|
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile)
|
rs63750869
|
0.00006
|
|
NM_001378609.3(OTOGL):c.6494C>A (p.Ser2165Ter)
|
rs537664532
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)
|
rs377177061
|
0.00006
|
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
|
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter)
|
rs199636364
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.3061+1G>A
|
rs537227442
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.4376-2A>G
|
rs886043616
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)
|
rs763915229
|
0.00006
|
|
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)
|
rs782261248
|
0.00006
|
|
NM_001414.4(EIF2B1):c.252+1G>A
|
rs113994006
|
0.00006
|
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
|
NM_002016.2(FLG):c.3418C>T (p.Arg1140Ter)
|
rs141375260
|
0.00006
|
|
NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter)
|
rs180768115
|
0.00006
|
|
NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter)
|
rs564628353
|
0.00006
|
|
NM_002103.5(GYS1):c.162_163del (p.Asp56fs)
|
rs587777375
|
0.00006
|
|
NM_002103.5(GYS1):c.678+1G>A
|
rs755305465
|
0.00006
|
|
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
|
rs121913502
|
0.00006
|
|
NM_002335.4(LRP5):c.685C>T (p.Arg229Trp)
|
rs766589610
|
0.00006
|
|
NM_002427.4(MMP13):c.619T>G (p.Trp207Gly)
|
rs140059558
|
0.00006
|
|
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)
|
rs267607258
|
0.00006
|
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
0.00006
|
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
|
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)
|
rs368435864
|
0.00006
|
|
NM_002863.5(PYGL):c.1620+1G>A
|
rs113993981
|
0.00006
|
|
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter)
|
rs756205397
|
0.00006
|
|
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)
|
rs144547521
|
0.00006
|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
0.00006
|
|
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)
|
rs121918634
|
0.00006
|
|
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)
|
rs775162839
|
0.00006
|
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
|
NM_003906.5(MCM3AP):c.2936_2937del (p.Pro979fs)
|
rs775414084
|
0.00006
|
|
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)
|
rs386833808
|
0.00006
|
|
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)
|
rs199883710
|
0.00006
|
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00006
|
|
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)
|
rs761989177
|
0.00006
|
|
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer)
|
rs772570880
|
0.00006
|
|
NM_004183.4(BEST1):c.821C>G (p.Pro274Arg)
|
rs62639270
|
0.00006
|
|
NM_004183.4(BEST1):c.974T>C (p.Met325Thr)
|
rs368387447
|
0.00006
|
|
NM_004204.5(PIGQ):c.942+1G>A
|
rs200661329
|
0.00006
|
|
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)
|
rs147757966
|
0.00006
|
|
NM_004618.5(TOP3A):c.529C>T (p.Arg177Ter)
|
rs200150335
|
0.00006
|
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00006
|
|
NM_004646.4(NPHS1):c.802C>T (p.Arg268Ter)
|
rs749341977
|
0.00006
|
|
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)
|
rs121908611
|
0.00006
|
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
|
NM_005373.3(MPL):c.304C>T (p.Arg102Cys)
|
rs763568293
|
0.00006
|
|
NM_005390.5(PDHA2):c.679A>G (p.Met227Val)
|
rs200969445
|
0.00006
|
|
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)
|
rs144081869
|
0.00006
|
|
NM_006005.3(WFS1):c.977C>T (p.Ala326Val)
|
rs369795224
|
0.00006
|
|
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)
|
rs137853151
|
0.00006
|
|
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter)
|
rs397515458
|
0.00006
|
|
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp)
|
rs121918537
|
0.00006
|
|
NM_006231.4(POLE):c.1478del (p.Leu493fs)
|
rs760070332
|
0.00006
|
|
NM_006343.3(MERTK):c.1296+1G>A
|
rs774577413
|
0.00006
|
|
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter)
|
rs202059967
|
0.00006
|
|
NM_006567.5(FARS2):c.467C>T (p.Thr156Met)
|
rs146988468
|
0.00006
|
|
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
|
rs772544112
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.740+356C>T
|
rs397515337
|
0.00006
|
|
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)
|
rs550922200
|
0.00006
|
|
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)
|
rs587777178
|
0.00006
|
|
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val)
|
rs121913660
|
0.00006
|
|
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu)
|
rs755946598
|
0.00006
|
|
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)
|
rs200669099
|
0.00006
|
|
NM_012203.2(GRHPR):c.734+1G>A
|
rs148049120
|
0.00006
|
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
|
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter)
|
rs145191476
|
0.00006
|
|
NM_013339.4(ALG6):c.338G>A (p.Arg113His)
|
rs768372697
|
0.00006
|
|
NM_014026.6(DCPS):c.947C>T (p.Thr316Met)
|
rs137941190
|
0.00006
|
|
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys)
|
rs200151282
|
0.00006
|
|
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser)
|
rs775057827
|
0.00006
|
|
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)
|
rs202247807
|
0.00006
|
|
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)
|
rs140873167
|
0.00006
|
|
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter)
|
rs140800288
|
0.00006
|
|
NM_014714.4(IFT140):c.1010-1G>A
|
rs770185023
|
0.00006
|
|
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)
|
rs121908345
|
0.00006
|
|
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)
|
rs375168720
|
0.00006
|
|
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg)
|
rs748436953
|
0.00006
|
|
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)
|
rs149830411
|
0.00006
|
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00006
|
|
NM_016011.5(MECR):c.830+2dup
|
rs756421370
|
0.00006
|
|
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp)
|
rs187225056
|
0.00006
|
|
NM_016122.3(CEP83):c.907C>T (p.Arg303Ter)
|
rs757301110
|
0.00006
|
|
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)
|
rs121912619
|
0.00006
|
|
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)
|
rs749136456
|
0.00006
|
|
NM_016239.4(MYO15A):c.8714-1G>A
|
rs377015931
|
0.00006
|
|
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter)
|
rs121918293
|
0.00006
|
|
NM_017837.4(PIGV):c.439C>T (p.Gln147Ter)
|
rs185641230
|
0.00006
|
|
NM_017837.4(PIGV):c.467G>A (p.Cys156Tyr)
|
rs387907023
|
0.00006
|
|
NM_018122.5(DARS2):c.396+2T>G
|
rs759123043
|
0.00006
|
|
NM_018161.5(NADSYN1):c.379C>T (p.Arg127Cys)
|
rs201096943
|
0.00006
|
|
NM_018230.3(NUP133):c.3164T>C (p.Leu1055Ser)
|
rs376476266
|
0.00006
|
|
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)
|
rs80044281
|
0.00006
|
|
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr)
|
rs529924080
|
0.00006
|
|
NM_019616.4(F7):c.2T>C (p.Met1Thr)
|
rs766294997
|
0.00006
|
|
NM_019616.4(F7):c.64+5G>A
|
rs769455161
|
0.00006
|
|
NM_019616.4(F7):c.845C>T (p.Ala282Val)
|
rs121964931
|
0.00006
|
|
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp)
|
rs142759730
|
0.00006
|
|
NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met)
|
rs181509591
|
0.00006
|
|
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter)
|
rs369437593
|
0.00006
|
|
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile)
|
rs542429051
|
0.00006
|
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
0.00006
|
|
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)
|
rs147391618
|
0.00006
|
|
NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter)
|
rs770593694
|
0.00006
|
|
NM_020919.4(ALS2):c.-60-2A>G
|
rs532217889
|
0.00006
|
|
NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly)
|
rs34757931
|
0.00006
|
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
|
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)
|
rs137852988
|
0.00006
|
|
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)
|
rs137852990
|
0.00006
|
|
NM_022464.5(SIL1):c.1030-9G>A
|
rs370290043
|
0.00006
|
|
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp)
|
rs144689354
|
0.00006
|
|
NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu)
|
rs149095705
|
0.00006
|
|
NM_024063.3(AFG2B):c.606_619dup (p.Glu207fs)
|
rs765912979
|
0.00006
|
|
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys)
|
rs201408725
|
0.00006
|
|
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)
|
rs752140135
|
0.00006
|
|
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp)
|
rs202138550
|
0.00006
|
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
0.00006
|
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
|
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)
|
rs377160857
|
0.00006
|
|
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)
|
rs141263564
|
0.00006
|
|
NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln)
|
rs387906917
|
0.00006
|
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00006
|
|
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)
|
rs199588390
|
0.00006
|
|
NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu)
|
rs750093817
|
0.00006
|
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00006
|
|
NM_138413.4(HOGA1):c.834G>A (p.Ala278=)
|
rs770050262
|
0.00006
|
|
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
|
rs761150081
|
0.00006
|
|
NM_138691.3(TMC1):c.1114G>A (p.Val372Met)
|
rs367924428
|
0.00006
|
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
|
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)
|
rs180675584
|
0.00006
|
|
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
|
rs200432861
|
0.00006
|
|
NM_144585.4(SLC22A12):c.774G>A (p.Trp258Ter)
|
rs121907892
|
0.00006
|
|
NM_145246.5(FRA10AC1):c.328C>T (p.Arg110Ter)
|
rs555127846
|
0.00006
|
|
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)
|
rs767072839
|
0.00006
|
|
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser)
|
rs367579275
|
0.00006
|
|
NM_152464.3(VMA12):c.92G>C (p.Arg31Pro)
|
rs782531869
|
0.00006
|
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
|
NM_152732.5(RSPH9):c.2T>C (p.Met1Thr)
|
rs1395940101
|
0.00006
|
|
NM_152906.7(TANGO2):c.605+1G>A
|
rs372949028
|
0.00006
|
|
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)
|
rs199801224
|
0.00006
|
|
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter)
|
rs148182439
|
0.00006
|
|
NM_153240.5(NPHP3):c.958-2A>G
|
rs780148543
|
0.00006
|
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
|
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)
|
rs386834202
|
0.00006
|
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
|
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)
|
rs766132697
|
0.00006
|
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
|
NM_173596.3(SLC39A5):c.141C>G (p.Tyr47Ter)
|
rs199624584
|
0.00006
|
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
|
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly)
|
rs543697946
|
0.00006
|
|
NM_181507.2(HPS5):c.285-10A>G
|
rs200449378
|
0.00006
|
|
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu)
|
rs779432560
|
0.00006
|
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
|
NM_182548.4(LHFPL5):c.472C>T (p.Arg158Trp)
|
rs753739358
|
0.00006
|
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
|
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)
|
rs200956636
|
0.00006
|
|
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)
|
rs62636264
|
0.00006
|
|
NM_206926.2(SELENON):c.1295G>A (p.Arg432Gln)
|
rs121908185
|
0.00006
|
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
|
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)
|
rs539192853
|
0.00006
|
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00006
|
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00006
|
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
|
NM_000017.4(ACADS):c.1095G>T (p.Gln365His)
|
rs368469075
|
0.00005
|
|
NM_000017.4(ACADS):c.575C>T (p.Ala192Val)
|
rs28940874
|
0.00005
|
|
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)
|
rs765423779
|
0.00005
|
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
|
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)
|
rs373458753
|
0.00005
|
|
NM_000030.3(AGXT):c.353G>A (p.Arg118His)
|
rs138025751
|
0.00005
|
|
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)
|
rs121908526
|
0.00005
|
|
NM_000030.3(AGXT):c.698G>A (p.Arg233His)
|
rs121908527
|
0.00005
|
|
NM_000031.6(ALAD):c.36C>G (p.Phe12Leu)
|
rs121912984
|
0.00005
|
|
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg)
|
rs121912980
|
0.00005
|
|
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)
|
rs749989641
|
0.00005
|
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00005
|
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00005
|
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
|
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)
|
rs137853285
|
0.00005
|
|
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)
|
rs121907996
|
0.00005
|
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00005
|
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00005
|
|
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)
|
rs28897758
|
0.00005
|
|
NM_000064.4(C3):c.193A>C (p.Lys65Gln)
|
rs539992721
|
0.00005
|
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00005
|
|
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
|
rs200379491
|
0.00005
|
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00005
|
|
NM_000070.3(CAPN3):c.258dup (p.Leu87fs)
|
rs753360208
|
0.00005
|
|
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser)
|
rs369784333
|
0.00005
|
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00005
|
|
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)
|
rs121434324
|
0.00005
|
|
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala)
|
rs202019723
|
0.00005
|
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
|
NM_000091.5(COL4A3):c.1216C>T (p.Arg406Ter)
|
rs371334239
|
0.00005
|
|
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)
|
rs139318843
|
0.00005
|
|
NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu)
|
rs56175199
|
0.00005
|
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00005
|
|
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)
|
rs72549304
|
0.00005
|
|
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)
|
rs759372918
|
0.00005
|
|
NM_000112.4(SLC26A2):c.700-1G>C
|
rs200963884
|
0.00005
|
|
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)
|
rs121917901
|
0.00005
|
|
NM_000128.4(F11):c.438C>A (p.Cys146Ter)
|
rs121965066
|
0.00005
|
|
NM_000129.4(F13A1):c.691-1G>A
|
rs372296352
|
0.00005
|
|
NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)
|
rs780253174
|
0.00005
|
|
NM_000132.4(F8):c.121G>T (p.Gly41Cys)
|
rs137852379
|
0.00005
|
|
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)
|
rs942909873
|
0.00005
|
|
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)
|
rs769479800
|
0.00005
|
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00005
|
|
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)
|
rs200796606
|
0.00005
|
|
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)
|
rs104894565
|
0.00005
|
|
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)
|
rs764920787
|
0.00005
|
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00005
|
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00005
|
|
NM_000153.4(GALC):c.265-2A>G
|
rs199710405
|
0.00005
|
|
NM_000155.4(GALT):c.602G>A (p.Arg201His)
|
rs111033735
|
0.00005
|
|
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)
|
rs80338734
|
0.00005
|
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
|
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)
|
rs775606471
|
0.00005
|
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
|
NM_000183.3(HADHB):c.182G>A (p.Arg61His)
|
rs121913132
|
0.00005
|
|
NM_000187.4(HGD):c.158G>A (p.Arg53Gln)
|
rs200808744
|
0.00005
|
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00005
|
|
NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu)
|
rs144809928
|
0.00005
|
|
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr)
|
rs757033996
|
0.00005
|
|
NM_000198.4(HSD3B2):c.745C>T (p.Arg249Ter)
|
rs80358217
|
0.00005
|
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
|
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)
|
rs371397270
|
0.00005
|
|
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)
|
rs752337969
|
0.00005
|
|
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg)
|
rs137852618
|
0.00005
|
|
NM_000212.3(ITGB3):c.356G>A (p.Arg119Gln)
|
rs147782061
|
0.00005
|
|
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)
|
rs201551805
|
0.00005
|
|
NM_000233.4(LHCGR):c.1847C>A (p.Ser616Tyr)
|
rs121912525
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1224-80G>A
|
rs1025692267
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)
|
rs727503195
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
|
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)
|
rs375675796
|
0.00005
|
|
NM_000258.3(MYL3):c.466G>A (p.Val156Met)
|
rs199474707
|
0.00005
|
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
|
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro)
|
rs749747871
|
0.00005
|
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
|
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598
|
0.00005
|
|
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser)
|
rs773767253
|
0.00005
|
|
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)
|
rs121965044
|
0.00005
|
|
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)
|
rs147736385
|
0.00005
|
|
NM_000277.3(PAH):c.1238G>A (p.Arg413His)
|
rs79931499
|
0.00005
|
|
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter)
|
rs104894172
|
0.00005
|
|
NM_000285.4(PEPD):c.1A>G (p.Met1Val)
|
rs752145794
|
0.00005
|
|
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00005
|
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
|
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
|
rs140014925
|
0.00005
|
|
NM_000295.5(SERPINA1):c.646+2T>C
|
rs112661131
|
0.00005
|
|
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)
|
rs200503569
|
0.00005
|
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00005
|
|
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)
|
rs386833646
|
0.00005
|
|
NM_000311.5(PRNP):c.538G>A (p.Val180Ile)
|
rs74315408
|
0.00005
|
|
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp)
|
rs765828196
|
0.00005
|
|
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)
|
rs61748559
|
0.00005
|
|
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)
|
rs61751402
|
0.00005
|
|
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)
|
rs568792949
|
0.00005
|
|
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)
|
rs62642574
|
0.00005
|
|
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)
|
rs61751384
|
0.00005
|
|
NM_000355.4(TCN2):c.428-2_428-1del
|
rs955351335
|
0.00005
|
|
NM_000374.5(UROD):c.199G>T (p.Glu67Ter)
|
rs763086647
|
0.00005
|
|
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)
|
rs119455954
|
0.00005
|
|
NM_000392.5(ABCC2):c.576+1G>A
|
rs376398719
|
0.00005
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
0.00005
|
|
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)
|
rs376710410
|
0.00005
|
|
NM_000404.4(GLB1):c.602G>A (p.Arg201His)
|
rs189115557
|
0.00005
|
|
NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg)
|
rs148499544
|
0.00005
|
|
NM_000414.4(HSD17B4):c.280+2T>C
|
rs770772281
|
0.00005
|
|
NM_000431.4(MVK):c.1139A>G (p.His380Arg)
|
rs104895324
|
0.00005
|
|
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)
|
rs146591309
|
0.00005
|
|
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)
|
rs111033220
|
0.00005
|
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00005
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
0.00005
|
|
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln)
|
rs72551341
|
0.00005
|
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
|
NM_000466.3(PEX1):c.2926+1G>A
|
rs267608179
|
0.00005
|
|
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)
|
rs61750427
|
0.00005
|
|
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser)
|
rs149889416
|
0.00005
|
|
NM_000485.3(APRT):c.400+2dup
|
rs745594160
|
0.00005
|
|
NM_000486.6(AQP2):c.559C>T (p.Arg187Cys)
|
rs104894328
|
0.00005
|
|
NM_000487.6(ARSA):c.116G>A (p.Gly39Asp)
|
rs781625939
|
0.00005
|
|
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys)
|
rs121909547
|
0.00005
|
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
|
NM_000492.4(CFTR):c.3874-4522A>G
|
rs895394181
|
0.00005
|
|
NM_000498.3(CYP11B2):c.1398+1G>A
|
rs539836429
|
0.00005
|
|
NM_000501.4(ELN):c.1150+1G>A
|
rs727503030
|
0.00005
|
|
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)
|
rs372893383
|
0.00005
|
|
NM_000520.6(HEXA):c.460-1G>T
|
rs764343937
|
0.00005
|
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00005
|
|
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
|
rs370471092
|
0.00005
|
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00005
|
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00005
|
|
NM_000528.4(MAN2B1):c.2046+2T>A
|
rs748712495
|
0.00005
|
|
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00005
|
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
|
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)
|
rs746538672
|
0.00005
|
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00005
|
|
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His)
|
rs759208930
|
0.00005
|
|
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)
|
rs151247980
|
0.00005
|
|
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
|
rs372827156
|
0.00005
|
|
NM_001015880.2(PAPSS2):c.121C>T (p.Arg41Ter)
|
rs201203612
|
0.00005
|
|
NM_001018115.3(FANCD2):c.990-1G>A
|
rs112832879
|
0.00005
|
|
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter)
|
rs776962899
|
0.00005
|
|
NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp)
|
rs778769841
|
0.00005
|
|
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)
|
rs201454788
|
0.00005
|
|
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys)
|
rs200430442
|
0.00005
|
|
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)
|
rs769248873
|
0.00005
|
|
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg)
|
rs752101663
|
0.00005
|
|
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)
|
rs34803727
|
0.00005
|
|
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His)
|
rs374324018
|
0.00005
|
|
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter)
|
rs201190064
|
0.00005
|
|
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
|
rs200763627
|
0.00005
|
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00005
|
|
NM_001134665.3(TRMT10A):c.226C>T (p.Arg76Ter)
|
rs748994888
|
0.00005
|
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
|
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu)
|
rs752509098
|
0.00005
|
|
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)
|
rs778030177
|
0.00005
|
|
NM_001142800.2(EYS):c.6571+5G>A
|
rs991580368
|
0.00005
|
|
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)
|
rs184722374
|
0.00005
|
|
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)
|
rs752683070
|
0.00005
|
|
NM_001144869.3(LIPT2):c.89T>C (p.Leu30Pro)
|
rs539962457
|
0.00005
|
|
NM_001163435.3(TBCK):c.2060-2A>G
|
rs62321379
|
0.00005
|
|
NM_001163435.3(TBCK):c.382-2A>G
|
rs903296221
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser)
|
rs151264767
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)
|
rs374434303
|
0.00005
|
|
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys)
|
rs63749794
|
0.00005
|
|
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met)
|
rs63750459
|
0.00005
|
|
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter)
|
rs200761047
|
0.00005
|
|
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)
|
rs121909394
|
0.00005
|
|
NM_001177316.2(SLC34A3):c.304+2T>C
|
rs201293634
|
0.00005
|
|
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)
|
rs201948406
|
0.00005
|
|
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter)
|
rs745800110
|
0.00005
|
|
NM_001206744.2(TPO):c.2395G>A (p.Glu799Lys)
|
rs121908085
|
0.00005
|
|
NM_001242882.2(NAXD):c.922C>T (p.Arg308Cys)
|
rs767778853
|
0.00005
|
|
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)
|
rs772073893
|
0.00005
|
|
NM_001267550.2(TTN):c.86821+2T>A
|
rs397517735
|
0.00005
|
|
NM_001277115.2(DNAH11):c.13373C>T (p.Pro4458Leu)
|
rs72658835
|
0.00005
|
|
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)
|
rs200440128
|
0.00005
|
|
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter)
|
rs560339163
|
0.00005
|
|
NM_001319074.4(RAX2):c.236G>A (p.Arg79Gln)
|
rs779301810
|
0.00005
|
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00005
|
|
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)
|
rs80338859
|
0.00005
|
|
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu)
|
rs374071862
|
0.00005
|
|
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)
|
rs753614861
|
0.00005
|
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
|
NM_001372.4(DNAH9):c.12193C>T (p.Arg4065Ter)
|
rs138149656
|
0.00005
|
|
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile)
|
rs771511132
|
0.00005
|
|
NM_001378609.3(OTOGL):c.975del (p.Leu325fs)
|
rs766753922
|
0.00005
|
|
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)
|
rs199584830
|
0.00005
|
|
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly)
|
rs562740927
|
0.00005
|
|
NM_001737.5(C9):c.460C>T (p.Arg154Ter)
|
rs144138616
|
0.00005
|
|
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)
|
rs34876841
|
0.00005
|
|
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)
|
rs138498898
|
0.00005
|
|
NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter)
|
rs374843706
|
0.00005
|
|
NM_001854.4(COL11A1):c.1245+1G>A
|
rs766849561
|
0.00005
|
|
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)
|
rs369061090
|
0.00005
|
|
NM_001876.4(CPT1A):c.1163+1G>A
|
rs148059333
|
0.00005
|
|
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
|
rs80356779
|
0.00005
|
|
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser)
|
rs758100382
|
0.00005
|
|
NM_002016.2(FLG):c.7487del (p.Thr2496fs)
|
rs774362740
|
0.00005
|
|
NM_002185.5(IL7R):c.466C>T (p.Gln156Ter)
|
rs139221577
|
0.00005
|
|
NM_002206.3(ITGA7):c.2357+1G>A
|
rs200402328
|
0.00005
|
|
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg)
|
rs781734780
|
0.00005
|
|
NM_002440.4(MSH4):c.2261C>T (p.Ser754Leu)
|
rs377712900
|
0.00005
|
|
NM_002529.4(NTRK1):c.575-19G>A
|
rs370828525
|
0.00005
|
|
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs)
|
rs1194089098
|
0.00005
|
|
NM_002693.3(POLG):c.3104+1G>A
|
rs138917386
|
0.00005
|
|
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)
|
rs150547274
|
0.00005
|
|
NM_003052.5(SLC34A1):c.244G>T (p.Glu82Ter)
|
rs377186926
|
0.00005
|
|
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)
|
rs377216516
|
0.00005
|
|
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)
|
rs121908886
|
0.00005
|
|
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)
|
rs769602042
|
0.00005
|
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00005
|
|
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys)
|
rs121909066
|
0.00005
|
|
NM_003742.4(ABCB11):c.2012-8T>G
|
rs769910565
|
0.00005
|
|
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp)
|
rs113994068
|
0.00005
|
|
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter)
|
rs201378067
|
0.00005
|
|
NM_004092.4(ECHS1):c.389T>A (p.Val130Asp)
|
rs753793522
|
0.00005
|
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
|
NM_004183.4(BEST1):c.1415del (p.Leu472fs)
|
rs752125512
|
0.00005
|
|
NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro)
|
rs146343535
|
0.00005
|
|
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)
|
rs558005496
|
0.00005
|
|
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)
|
rs398124152
|
0.00005
|
|
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)
|
rs121964954
|
0.00005
|
|
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
|
rs371493232
|
0.00005
|
|
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter)
|
rs1269514277
|
0.00005
|
|
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)
|
rs386833915
|
0.00005
|
|
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)
|
rs138656762
|
0.00005
|
|
NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter)
|
rs769676029
|
0.00005
|
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00005
|
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00005
|
|
NM_005213.4(CSTA):c.172C>T (p.Arg58Ter)
|
rs149474339
|
0.00005
|
|
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met)
|
rs121434569
|
0.00005
|
|
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro)
|
rs369238198
|
0.00005
|
|
NM_005609.4(PYGM):c.2178-1G>A
|
rs143670942
|
0.00005
|
|
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp)
|
rs549442687
|
0.00005
|
|
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His)
|
rs543016186
|
0.00005
|
|
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)
|
rs767890671
|
0.00005
|
|
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)
|
rs774265764
|
0.00005
|
|
NM_006005.3(WFS1):c.2107C>T (p.Arg703Cys)
|
rs201888856
|
0.00005
|
|
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys)
|
rs148953711
|
0.00005
|
|
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)
|
rs121917839
|
0.00005
|
|
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)
|
rs201493928
|
0.00005
|
|
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)
|
rs201270568
|
0.00005
|
|
NM_006567.5(FARS2):c.919C>T (p.Arg307Ter)
|
rs148620369
|
0.00005
|
|
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
|
rs149850248
|
0.00005
|
|
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)
|
rs587777180
|
0.00005
|
|
NM_006907.4(PYCR1):c.752G>A (p.Arg251His)
|
rs121918378
|
0.00005
|
|
NM_007103.4(NDUFV1):c.1162+4A>C
|
rs199683937
|
0.00005
|
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
|
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)
|
rs376252276
|
0.00005
|
|
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr)
|
rs377669670
|
0.00005
|
|
NM_012186.3(FOXE3):c.244A>G (p.Met82Val)
|
rs746531116
|
0.00005
|
|
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly)
|
rs141952252
|
0.00005
|
|
NM_012434.5(SLC17A5):c.1260-2A>C
|
rs144074675
|
0.00005
|
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
|
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter)
|
rs72553882
|
0.00005
|
|
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter)
|
rs72553885
|
0.00005
|
|
NM_013296.5(GPSM2):c.1062+1G>T
|
rs777695770
|
0.00005
|
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
|
NM_014254.3(RXYLT1):c.256C>T (p.Gln86Ter)
|
rs557282296
|
0.00005
|
|
NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val)
|
rs537467155
|
0.00005
|
|
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser)
|
rs142326926
|
0.00005
|
|
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala)
|
rs374860681
|
0.00005
|
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
|
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)
|
rs774964432
|
0.00005
|
|
NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter)
|
rs200416242
|
0.00005
|
|
NM_016008.4(DYNC2LI1):c.349C>G (p.Leu117Val)
|
rs201948500
|
0.00005
|
|
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys)
|
rs387906886
|
0.00005
|
|
NM_016239.4(MYO15A):c.1223C>T (p.Ala408Val)
|
rs191710555
|
0.00005
|
|
NM_016239.4(MYO15A):c.6046+1G>A
|
rs201978571
|
0.00005
|
|
NM_016589.4(TIMMDC1):c.385C>T (p.Arg129Ter)
|
rs970547270
|
0.00005
|
|
NM_017799.4(TMEM260):c.1393C>T (p.Gln465Ter)
|
rs201956469
|
0.00005
|
|
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys)
|
rs374322839
|
0.00005
|
|
NM_018051.5(DYNC2I1):c.1777C>T (p.Arg593Trp)
|
rs776300442
|
0.00005
|
|
NM_018116.4(MSTO1):c.1033C>T (p.Arg345Cys)
|
rs749922789
|
0.00005
|
|
NM_018129.4(PNPO):c.413G>A (p.Arg138His)
|
rs764940495
|
0.00005
|
|
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)
|
rs140287375
|
0.00005
|
|
NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter)
|
rs368124813
|
0.00005
|
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00005
|
|
NM_019032.6(ADAMTSL4):c.2236C>T (p.Arg746Cys)
|
rs751676813
|
0.00005
|
|
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)
|
rs139207764
|
0.00005
|
|
NM_019616.4(F7):c.364+1G>A
|
rs1056071555
|
0.00005
|
|
NM_019616.4(F7):c.868G>A (p.Val290Met)
|
rs201991361
|
0.00005
|
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00005
|
|
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly)
|
rs765088174
|
0.00005
|
|
NM_020374.4(FERRY3):c.983T>C (p.Leu328Pro)
|
rs1468772495
|
0.00005
|
|
NM_020435.4(GJC2):c.203A>G (p.Tyr68Cys)
|
rs1031720654
|
0.00005
|
|
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
|
rs535246705
|
0.00005
|
|
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)
|
rs143821815
|
0.00005
|
|
NM_020937.4(FANCM):c.1491dup (p.Gln498fs)
|
rs797045116
|
0.00005
|
|
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter)
|
rs183478189
|
0.00005
|
|
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser)
|
rs121918423
|
0.00005
|
|
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)
|
rs199922550
|
0.00005
|
|
NM_022081.6(HPS4):c.384+1G>A
|
rs201334605
|
0.00005
|
|
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)
|
rs780987516
|
0.00005
|
|
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)
|
rs119103219
|
0.00005
|
|
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
|
rs277995
|
0.00005
|
|
NM_024120.5(NDUFAF5):c.775C>T (p.Gln259Ter)
|
rs755097467
|
0.00005
|
|
NM_024120.5(NDUFAF5):c.826C>T (p.Arg276Ter)
|
rs148305100
|
0.00005
|
|
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys)
|
rs752143061
|
0.00005
|
|
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer)
|
rs587783735
|
0.00005
|
|
NM_024753.5(TTC21B):c.2913dup (p.Val972fs)
|
rs867205119
|
0.00005
|
|
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn)
|
rs200841458
|
0.00005
|
|
NM_024911.7(WLS):c.1433A>G (p.Tyr478Cys)
|
rs985347096
|
0.00005
|
|
NM_025074.7(FRAS1):c.4843+2T>C
|
rs370018000
|
0.00005
|
|
NM_025103.4(IFT74):c.1685-1G>T
|
rs200699377
|
0.00005
|
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00005
|
|
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)
|
rs140385286
|
0.00005
|
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
|
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)
|
rs771466122
|
0.00005
|
|
NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter)
|
rs201180239
|
0.00005
|
|
NM_030943.4(AMN):c.122C>T (p.Thr41Ile)
|
rs119478058
|
0.00005
|
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00005
|
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00005
|
|
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg)
|
rs567130416
|
0.00005
|
|
NM_052845.4(MMAB):c.562G>A (p.Val188Met)
|
rs768176676
|
0.00005
|
|
NM_057176.3(BSND):c.22C>T (p.Arg8Trp)
|
rs74315285
|
0.00005
|
|
NM_080860.4(RSPH1):c.727+5G>A
|
rs200382776
|
0.00005
|
|
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys)
|
rs367741588
|
0.00005
|
|
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)
|
rs80338699
|
0.00005
|
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
|
NM_138704.4(NSMCE3):c.790C>T (p.Leu264Phe)
|
rs199905054
|
0.00005
|
|
NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu)
|
rs765990518
|
0.00005
|
|
NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg)
|
rs267607182
|
0.00005
|
|
NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser)
|
rs201835496
|
0.00005
|
|
NM_145207.3(AFG2A):c.1963C>T (p.Arg655Ter)
|
rs763737752
|
0.00005
|
|
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)
|
rs142083484
|
0.00005
|
|
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)
|
rs769864196
|
0.00005
|
|
NM_152416.4(NDUFAF6):c.298-768T>C
|
rs575462405
|
0.00005
|
|
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)
|
rs527800020
|
0.00005
|
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
|
NM_153700.2(STRC):c.4219-1G>A
|
rs748854592
|
0.00005
|
|
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter)
|
rs201707868
|
0.00005
|
|
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser)
|
rs28940269
|
0.00005
|
|
NM_173630.4(RTTN):c.88G>T (p.Glu30Ter)
|
rs200495808
|
0.00005
|
|
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp)
|
rs746882521
|
0.00005
|
|
NM_176869.3(PPA2):c.476C>T (p.Thr159Met)
|
rs752062224
|
0.00005
|
|
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)
|
rs769223754
|
0.00005
|
|
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)
|
rs80356605
|
0.00005
|
|
NM_198559.2(CATIP):c.103T>A (p.Phe35Ile)
|
rs141560868
|
0.00005
|
|
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)
|
rs764256655
|
0.00005
|
|
NM_205850.3(SLC24A5):c.1361T>A (p.Leu454Ter)
|
rs372932575
|
0.00005
|
|
NM_206926.2(SELENON):c.1A>G (p.Met1Val)
|
rs121908184
|
0.00005
|
|
NM_206933.4(USH2A):c.12295-3T>A
|
rs111033518
|
0.00005
|
|
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)
|
rs184351619
|
0.00005
|
|
NR_003051.3(RMRP):n.-19_-13dupTCTGTGA
|
rs1554651506
|
0.00005
|
|
NR_003051.4(RMRP):n.37C>A
|
rs549085067
|
0.00005
|
|
NR_023343.1:n.30G>A
|
rs374299350
|
0.00005
|
|
NR_023343.3(RNU4ATAC):n.48G>A
|
rs863225422
|
0.00005
|
|
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala)
|
rs373057729
|
0.00004
|
|
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)
|
rs759158371
|
0.00004
|
|
NM_000016.6(ACADM):c.50G>A (p.Arg17His)
|
rs17848070
|
0.00004
|
|
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)
|
rs28940875
|
0.00004
|
|
NM_000017.4(ACADS):c.815G>A (p.Arg272His)
|
rs374726386
|
0.00004
|
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
|
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)
|
rs200117742
|
0.00004
|
|
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)
|
rs727503795
|
0.00004
|
|
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)
|
rs370720208
|
0.00004
|
|
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)
|
rs121908520
|
0.00004
|
|
NM_000035.4(ALDOB):c.379+1G>T
|
rs138121153
|
0.00004
|
|
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)
|
rs755359126
|
0.00004
|
|
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)
|
rs398123125
|
0.00004
|
|
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)
|
rs373697663
|
0.00004
|
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
|
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter)
|
rs766906034
|
0.00004
|
|
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser)
|
rs760713333
|
0.00004
|
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
|
NM_000055.4(BCHE):c.1354C>T (p.Arg452Ter)
|
rs530517316
|
0.00004
|
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
|
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)
|
rs148317787
|
0.00004
|
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
|
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)
|
rs528417986
|
0.00004
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
0.00004
|
|
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)
|
rs768407867
|
0.00004
|
|
NM_000080.4(CHRNE):c.866del (p.Leu289fs)
|
rs1451776623
|
0.00004
|
|
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)
|
rs148393161
|
0.00004
|
|
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met)
|
rs749205522
|
0.00004
|
|
NM_000083.3(CLCN1):c.264G>A (p.Val88=)
|
rs759188441
|
0.00004
|
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
|
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter)
|
rs764046610
|
0.00004
|
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
|
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg)
|
rs370474706
|
0.00004
|
|
NM_000094.4(COL7A1):c.4531_4564-42del
|
rs2044843806
|
0.00004
|
|
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter)
|
rs1043139127
|
0.00004
|
|
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)
|
rs373638740
|
0.00004
|
|
NM_000098.3(CPT2):c.98del (p.Gln33fs)
|
rs917744011
|
0.00004
|
|
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)
|
rs568132506
|
0.00004
|
|
NM_000111.3(SLC26A3):c.2063-1G>T
|
rs386833471
|
0.00004
|
|
NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val)
|
rs774078839
|
0.00004
|
|
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)
|
rs906755254
|
0.00004
|
|
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)
|
rs754202690
|
0.00004
|
|
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
|
rs756908183
|
0.00004
|
|
NM_000132.4(F8):c.1018G>A (p.Glu340Lys)
|
rs781954986
|
0.00004
|
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00004
|
|
NM_000135.4(FANCA):c.3349-1G>A
|
rs769862233
|
0.00004
|
|
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)
|
rs104894567
|
0.00004
|
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
|
NM_000153.4(GALC):c.1592G>A (p.Arg531His)
|
rs200378205
|
0.00004
|
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
|
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)
|
rs371517491
|
0.00004
|
|
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)
|
rs754967473
|
0.00004
|
|
NM_000155.4(GALT):c.667C>T (p.Arg223Cys)
|
rs111033750
|
0.00004
|
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
0.00004
|
|
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)
|
rs781477694
|
0.00004
|
|
NM_000159.4(GCDH):c.679C>T (p.Arg227Trp)
|
rs368357056
|
0.00004
|
|
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)
|
rs28935197
|
0.00004
|
|
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)
|
rs386833553
|
0.00004
|
|
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met)
|
rs386833560
|
0.00004
|
|
NM_000175.5(GPI):c.1039C>T (p.Arg347Cys)
|
rs758132799
|
0.00004
|
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00004
|
|
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)
|
rs377519272
|
0.00004
|
|
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)
|
rs121918172
|
0.00004
|
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00004
|
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
|
NM_000187.4(HGD):c.502G>A (p.Glu168Lys)
|
rs375283568
|
0.00004
|
|
NM_000187.4(HGD):c.899T>G (p.Val300Gly)
|
rs120074170
|
0.00004
|
|
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp)
|
rs118204109
|
0.00004
|
|
NM_000190.4(HMBS):c.992C>T (p.Ala331Val)
|
rs770086296
|
0.00004
|
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
|
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser)
|
rs119481079
|
0.00004
|
|
NM_000197.2(HSD17B3):c.645A>T (p.Glu215Asp)
|
rs115063639
|
0.00004
|
|
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)
|
rs762479018
|
0.00004
|
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
|
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)
|
rs1567914835
|
0.00004
|
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
|
NM_000203.5(IDUA):c.1403-1G>T
|
rs4690223
|
0.00004
|
|
NM_000203.5(IDUA):c.536C>T (p.Thr179Met)
|
rs776098539
|
0.00004
|
|
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)
|
rs368615806
|
0.00004
|
|
NM_000211.5(ITGB2):c.897+1G>A
|
rs201752283
|
0.00004
|
|
NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter)
|
rs75427428
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1394-1G>T
|
rs775537394
|
0.00004
|
|
NM_000229.2(LCAT):c.321C>A (p.Tyr107Ter)
|
rs121908055
|
0.00004
|
|
NM_000229.2(LCAT):c.440C>T (p.Thr147Ile)
|
rs121908050
|
0.00004
|
|
NM_000231.3(SGCG):c.195+1G>C
|
rs200502077
|
0.00004
|
|
NM_000237.3(LPL):c.662T>C (p.Ile221Thr)
|
rs118204061
|
0.00004
|
|
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)
|
rs199473435
|
0.00004
|
|
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)
|
rs727504022
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3330+2T>G
|
rs387906397
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)
|
rs121909378
|
0.00004
|
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00004
|
|
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)
|
rs111033215
|
0.00004
|
|
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile)
|
rs377670513
|
0.00004
|
|
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)
|
rs992677795
|
0.00004
|
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
|
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)
|
rs200457227
|
0.00004
|
|
NM_000275.3(OCA2):c.941T>G (p.Val314Gly)
|
rs762262964
|
0.00004
|
|
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)
|
rs62516151
|
0.00004
|
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
|
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)
|
rs62514957
|
0.00004
|
|
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)
|
rs764605140
|
0.00004
|
|
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg)
|
rs121917724
|
0.00004
|
|
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
|
rs374547385
|
0.00004
|
|
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys)
|
rs138871700
|
0.00004
|
|
NM_000302.4(PLOD1):c.1651-2A>G
|
rs565513365
|
0.00004
|
|
NM_000303.3(PMM2):c.24del (p.Cys9fs)
|
rs768021123
|
0.00004
|
|
NM_000303.3(PMM2):c.640-15479C>T
|
rs1258107584
|
0.00004
|
|
NM_000308.4(CTSA):c.1-2A>G
|
rs979557944
|
0.00004
|
|
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)
|
rs137852699
|
0.00004
|
|
NM_000312.4(PROC):c.814C>T (p.Arg272Cys)
|
rs121918154
|
0.00004
|
|
NM_000324.3(RHAG):c.157+1G>A
|
rs375508949
|
0.00004
|
|
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)
|
rs121912748
|
0.00004
|
|
NM_000348.4(SRD5A2):c.513G>C (p.Arg171Ser)
|
rs756405261
|
0.00004
|
|
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)
|
rs139081695
|
0.00004
|
|
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)
|
rs150774447
|
0.00004
|
|
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)
|
rs61749412
|
0.00004
|
|
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)
|
rs61751395
|
0.00004
|
|
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln)
|
rs61753021
|
0.00004
|
|
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)
|
rs369973540
|
0.00004
|
|
NM_000350.3(ABCA4):c.859-9T>C
|
rs529598960
|
0.00004
|
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
|
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys)
|
rs397514524
|
0.00004
|
|
NM_000359.3(TGM1):c.377G>A (p.Arg126His)
|
rs200491579
|
0.00004
|
|
NM_000359.3(TGM1):c.425G>A (p.Arg142His)
|
rs121918718
|
0.00004
|
|
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)
|
rs767635052
|
0.00004
|
|
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
|
rs397516347
|
0.00004
|
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
|
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)
|
rs1031268531
|
0.00004
|
|
NM_000376.3(VDR):c.218G>A (p.Arg73Gln)
|
rs121909791
|
0.00004
|
|
NM_000392.5(ABCC2):c.1031+4A>G
|
rs373384181
|
0.00004
|
|
NM_000398.7(CYB5R3):c.464-2A>C
|
rs794728013
|
0.00004
|
|
NM_000400.4(ERCC2):c.183+2T>A
|
rs201127596
|
0.00004
|
|
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)
|
rs121913024
|
0.00004
|
|
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)
|
rs121913018
|
0.00004
|
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
|
NM_000404.4(GLB1):c.176G>A (p.Arg59His)
|
rs72555392
|
0.00004
|
|
NM_000410.4(HFE):c.1006+1G>A
|
rs573745685
|
0.00004
|
|
NM_000419.5(ITGA2B):c.3060+2T>C
|
rs74664206
|
0.00004
|
|
NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp)
|
rs376757912
|
0.00004
|
|
NM_000431.4(MVK):c.608T>C (p.Val203Ala)
|
rs104895332
|
0.00004
|
|
NM_000432.4(MYL2):c.403-1G>C
|
rs199474813
|
0.00004
|
|
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)
|
rs760768552
|
0.00004
|
|
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)
|
rs144163298
|
0.00004
|
|
NM_000440.3(PDE6A):c.305G>A (p.Arg102His)
|
rs750539462
|
0.00004
|
|
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)
|
rs766206507
|
0.00004
|
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
|
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)
|
rs786204421
|
0.00004
|
|
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln)
|
rs150739647
|
0.00004
|
|
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)
|
rs61750425
|
0.00004
|
|
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)
|
rs121918010
|
0.00004
|
|
NM_000481.4(AMT):c.-55C>T
|
rs386833677
|
0.00004
|
|
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)
|
rs1126422
|
0.00004
|
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
|
NM_000486.6(AQP2):c.785C>T (p.Pro262Leu)
|
rs104894339
|
0.00004
|
|
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)
|
rs199476391
|
0.00004
|
|
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)
|
rs74315458
|
0.00004
|
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
|
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
|
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly)
|
rs397508818
|
0.00004
|
|
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)
|
rs104894068
|
0.00004
|
|
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met)
|
rs765921219
|
0.00004
|
|
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His)
|
rs1351045983
|
0.00004
|
|
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)
|
rs72552758
|
0.00004
|
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
|
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)
|
rs763184657
|
0.00004
|
|
NM_000517.6(HBA2):c.143del (p.Asp48fs)
|
rs281864539
|
0.00004
|
|
NM_000517.6(HBA2):c.163C>T (p.Gln55Ter)
|
rs281864840
|
0.00004
|
|
NM_000517.6(HBA2):c.69C>T (p.Gly23=)
|
rs63751457
|
0.00004
|
|
NM_000518.5(HBB):c.-137C>A
|
rs33941377
|
0.00004
|
|
NM_000519.4(HBD):c.-118C>T
|
rs549964658
|
0.00004
|
|
NM_000520.6(HEXA):c.986+3A>G
|
rs200926928
|
0.00004
|
|
NM_000521.4(HEXB):c.1082+5G>A
|
rs5030731
|
0.00004
|
|
NM_000527.5(LDLR):c.1359-5C>G
|
rs531005522
|
0.00004
|
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
rs28941776
|
0.00004
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
rs28942084
|
0.00004
|
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00004
|
|
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)
|
rs121918575
|
0.00004
|
|
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys)
|
rs764485070
|
0.00004
|
|
NM_000539.3(RHO):c.745G>T (p.Glu249Ter)
|
rs104893783
|
0.00004
|
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
|
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)
|
rs764262446
|
0.00004
|
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
|
NM_000540.3(RYR1):c.6274+1G>A
|
rs1226228092
|
0.00004
|
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
|
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)
|
rs281865424
|
0.00004
|
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
|
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)
|
rs121964894
|
0.00004
|
|
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp)
|
rs61749402
|
0.00004
|
|
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser)
|
rs61750070
|
0.00004
|
|
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala)
|
rs267607353
|
0.00004
|
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
|
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His)
|
rs118204009
|
0.00004
|
|
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile)
|
rs118204008
|
0.00004
|
|
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)
|
rs774258585
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)
|
rs755350165
|
0.00004
|
|
NM_001018115.3(FANCD2):c.696-121C>G
|
rs2086862509
|
0.00004
|
|
NM_001025248.2(DUT):c.425A>G (p.Tyr142Cys)
|
rs373184762
|
0.00004
|
|
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys)
|
rs766910280
|
0.00004
|
|
NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter)
|
rs750797779
|
0.00004
|
|
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu)
|
rs745595833
|
0.00004
|
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
|
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)
|
rs200495564
|
0.00004
|
|
NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr)
|
rs587778534
|
0.00004
|
|
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
|
rs372673338
|
0.00004
|
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00004
|
|
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)
|
rs776838028
|
0.00004
|
|
NM_001080453.3(INTS1):c.229C>T (p.Arg77Cys)
|
rs200649090
|
0.00004
|
|
NM_001082971.2(DDC):c.272C>T (p.Ala91Val)
|
rs137853211
|
0.00004
|
|
NM_001082971.2(DDC):c.286G>A (p.Gly96Arg)
|
rs1285477390
|
0.00004
|
|
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)
|
rs768527231
|
0.00004
|
|
NM_001128126.3(AP4S1):c.43C>T (p.Arg15Ter)
|
rs754944359
|
0.00004
|
|
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
|
rs398123787
|
0.00004
|
|
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG
|
rs781905246
|
0.00004
|
|
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys)
|
rs750066836
|
0.00004
|
|
NM_001139.3(ALOX12B):c.1265C>T (p.Pro422Leu)
|
rs774333332
|
0.00004
|
|
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met)
|
rs199545653
|
0.00004
|
|
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)
|
rs527236068
|
0.00004
|
|
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)
|
rs1311193836
|
0.00004
|
|
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter)
|
rs1161335800
|
0.00004
|
|
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met)
|
rs587776991
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
|
NM_001164508.2(NEB):c.21417+3A>G
|
rs148950085
|
0.00004
|
|
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)
|
rs200731870
|
0.00004
|
|
NM_001164508.2(NEB):c.9619-2A>G
|
rs375145370
|
0.00004
|
|
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter)
|
rs72653705
|
0.00004
|
|
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp)
|
rs28939701
|
0.00004
|
|
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=)
|
rs121918236
|
0.00004
|
|
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp)
|
rs370624118
|
0.00004
|
|
NM_001195263.2(PDZD7):c.2211del (p.Gln737fs)
|
rs1157689930
|
0.00004
|
|
NM_001195518.2(MICU1):c.161+1G>A
|
rs375502236
|
0.00004
|
|
NM_001195518.2(MICU1):c.386G>C (p.Arg129Pro)
|
rs375664373
|
0.00004
|
|
NM_001195518.2(MICU1):c.553C>T (p.Arg185Ter)
|
rs755651388
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)
|
rs564477999
|
0.00004
|
|
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)
|
rs767414973
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
|
rs147538370
|
0.00004
|
|
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)
|
rs746877433
|
0.00004
|
|
NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter)
|
rs369742878
|
0.00004
|
|
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)
|
rs529495094
|
0.00004
|
|
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)
|
rs200090033
|
0.00004
|
|
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met)
|
rs772040483
|
0.00004
|
|
NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter)
|
rs775072385
|
0.00004
|
|
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter)
|
rs1384922524
|
0.00004
|
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
|
NM_001276270.2(MBD4):c.1544-1G>T
|
rs778697654
|
0.00004
|
|
NM_001276270.2(MBD4):c.1670T>A (p.Leu557Ter)
|
rs200758755
|
0.00004
|
|
NM_001277115.2(DNAH11):c.13288G>A (p.Gly4430Arg)
|
rs1275074212
|
0.00004
|
|
NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter)
|
rs72657316
|
0.00004
|
|
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)
|
rs760956030
|
0.00004
|
|
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter)
|
rs772430523
|
0.00004
|
|
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile)
|
rs199655686
|
0.00004
|
|
NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His)
|
rs398124543
|
0.00004
|
|
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
0.00004
|
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
|
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro)
|
rs754320812
|
0.00004
|
|
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter)
|
rs199589510
|
0.00004
|
|
NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter)
|
rs368975704
|
0.00004
|
|
NM_001363711.2(DUOX2):c.3328C>T (p.Arg1110Ter)
|
rs531536885
|
0.00004
|
|
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)
|
rs202152511
|
0.00004
|
|
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)
|
rs756543273
|
0.00004
|
|
NM_001369.3(DNAH5):c.8404C>T (p.Gln2802Ter)
|
rs1193586811
|
0.00004
|
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
|
NM_001372.4(DNAH9):c.1733del (p.Leu578fs)
|
rs766799921
|
0.00004
|
|
NM_001374504.1(TMPRSS6):c.1297G>A (p.Gly433Arg)
|
rs137853119
|
0.00004
|
|
NM_001376571.1(MADD):c.979C>T (p.Arg327Ter)
|
rs147179561
|
0.00004
|
|
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val)
|
rs369614706
|
0.00004
|
|
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys)
|
rs775426647
|
0.00004
|
|
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)
|
rs1350329646
|
0.00004
|
|
NM_001377.3(DYNC2H1):c.8145C>A (p.Tyr2715Ter)
|
rs371940321
|
0.00004
|
|
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)
|
rs751804613
|
0.00004
|
|
NM_001378609.3(OTOGL):c.63del (p.Leu22fs)
|
rs376104832
|
0.00004
|
|
NM_001379270.1(CNGA1):c.253del (p.Leu85fs)
|
rs749012133
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.1A>G (p.Met1Val)
|
rs891693382
|
0.00004
|
|
NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg)
|
rs121964924
|
0.00004
|
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
|
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val)
|
rs761156912
|
0.00004
|
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00004
|
|
NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter)
|
rs370678173
|
0.00004
|
|
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)
|
rs758746181
|
0.00004
|
|
NM_001457.4(FLNB):c.4387C>T (p.Arg1463Ter)
|
rs373821754
|
0.00004
|
|
NM_001622.4(AHSG):c.950G>A (p.Arg317His)
|
rs201849460
|
0.00004
|
|
NM_001673.5(ASNS):c.1211G>A (p.Arg404His)
|
rs774808316
|
0.00004
|
|
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter)
|
rs145536062
|
0.00004
|
|
NM_001698.3(AUH):c.824C>T (p.Ala275Val)
|
rs748318386
|
0.00004
|
|
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter)
|
rs201045495
|
0.00004
|
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
|
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter)
|
rs749083759
|
0.00004
|
|
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter)
|
rs777181377
|
0.00004
|
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
|
NM_002225.5(IVD):c.287-1G>A
|
rs1398838997
|
0.00004
|
|
NM_002296.4(LBR):c.1640A>G (p.Asn547Ser)
|
rs374343844
|
0.00004
|
|
NM_002296.4(LBR):c.367-2A>C
|
rs368708382
|
0.00004
|
|
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)
|
rs753029097
|
0.00004
|
|
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg)
|
rs777164338
|
0.00004
|
|
NM_002693.3(POLG):c.428C>T (p.Ala143Val)
|
rs796052899
|
0.00004
|
|
NM_002929.3(GRK1):c.1139T>A (p.Val380Asp)
|
rs777094000
|
0.00004
|
|
NM_003049.4(SLC10A1):c.104T>A (p.Leu35Ter)
|
rs200282964
|
0.00004
|
|
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter)
|
rs200893951
|
0.00004
|
|
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)
|
rs185551386
|
0.00004
|
|
NM_003104.6(SORD):c.776C>T (p.Ala259Val)
|
rs746985755
|
0.00004
|
|
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter)
|
rs562890289
|
0.00004
|
|
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg)
|
rs369503365
|
0.00004
|
|
NM_003119.4(SPG7):c.2096dup (p.Met699fs)
|
rs747503698
|
0.00004
|
|
NM_003119.4(SPG7):c.861+2dup
|
rs771256761
|
0.00004
|
|
NM_003235.5(TG):c.475C>T (p.Arg159Ter)
|
rs759267330
|
0.00004
|
|
NM_003359.4(UGDH):c.131C>T (p.Ala44Val)
|
rs749975104
|
0.00004
|
|
NM_003401.5(XRCC4):c.481C>T (p.Arg161Ter)
|
rs779773463
|
0.00004
|
|
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)
|
rs530348521
|
0.00004
|
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
0.00004
|
|
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)
|
rs376078668
|
0.00004
|
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
|
NM_003773.5(HYAL2):c.443A>G (p.Lys148Arg)
|
rs1321268291
|
0.00004
|
|
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys)
|
rs200581623
|
0.00004
|
|
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter)
|
rs781939614
|
0.00004
|
|
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala)
|
rs28939717
|
0.00004
|
|
NM_003982.4(SLC7A7):c.377del (p.Ile126fs)
|
rs774080549
|
0.00004
|
|
NM_003982.4(SLC7A7):c.625+1G>A
|
rs386833822
|
0.00004
|
|
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)
|
rs767178508
|
0.00004
|
|
NM_004004.6(GJB2):c.533T>C (p.Val178Ala)
|
rs568612627
|
0.00004
|
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00004
|
|
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)
|
rs557128093
|
0.00004
|
|
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)
|
rs184474885
|
0.00004
|
|
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys)
|
rs121908494
|
0.00004
|
|
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter)
|
rs752341132
|
0.00004
|
|
NM_004318.4(ASPH):c.2203C>T (p.Arg735Trp)
|
rs374385878
|
0.00004
|
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
|
NM_004366.6(CLCN2):c.1412G>A (p.Arg471His)
|
rs771507094
|
0.00004
|
|
NM_004425.4(ECM1):c.1019del (p.Gln340fs)
|
rs778473713
|
0.00004
|
|
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile)
|
rs121909116
|
0.00004
|
|
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)
|
rs398124151
|
0.00004
|
|
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)
|
rs762928354
|
0.00004
|
|
NM_004614.5(TK2):c.103C>T (p.Gln35Ter)
|
rs886041321
|
0.00004
|
|
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
|
rs386833909
|
0.00004
|
|
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)
|
rs146262009
|
0.00004
|
|
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)
|
rs369459721
|
0.00004
|
|
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter)
|
rs201452975
|
0.00004
|
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
|
NM_004937.3(CTNS):c.635C>T (p.Ala212Val)
|
rs776658046
|
0.00004
|
|
NM_004937.3(CTNS):c.970+5G>A
|
rs753451110
|
0.00004
|
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00004
|
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
|
NM_005502.4(ABCA1):c.1759C>T (p.Arg587Trp)
|
rs2853574
|
0.00004
|
|
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter)
|
rs984874083
|
0.00004
|
|
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)
|
rs398124209
|
0.00004
|
|
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)
|
rs767739769
|
0.00004
|
|
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)
|
rs587777688
|
0.00004
|
|
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)
|
rs119103236
|
0.00004
|
|
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
|
rs759449765
|
0.00004
|
|
NM_005912.3(MC4R):c.496G>A (p.Val166Ile)
|
rs942758928
|
0.00004
|
|
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys)
|
rs121434296
|
0.00004
|
|
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)
|
rs750323424
|
0.00004
|
|
NM_005989.4(AKR1D1):c.797G>A (p.Arg266Gln)
|
rs182820353
|
0.00004
|
|
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly)
|
rs1064794257
|
0.00004
|
|
NM_006005.3(WFS1):c.631G>A (p.Asp211Asn)
|
rs138682654
|
0.00004
|
|
NM_006017.3(PROM1):c.1301+2T>C
|
rs775957498
|
0.00004
|
|
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter)
|
rs757793925
|
0.00004
|
|
NM_006214.4(PHYH):c.497-2A>G
|
rs144169488
|
0.00004
|
|
NM_006302.3(MOGS):c.882del (p.Glu295fs)
|
rs765427546
|
0.00004
|
|
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)
|
rs541717028
|
0.00004
|
|
NM_006363.6(SEC23B):c.53G>A (p.Arg18His)
|
rs905074313
|
0.00004
|
|
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)
|
rs121918225
|
0.00004
|
|
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter)
|
rs137853944
|
0.00004
|
|
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)
|
rs386833980
|
0.00004
|
|
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter)
|
rs768449493
|
0.00004
|
|
NM_006576.4(AVIL):c.1964dup (p.Phe656fs)
|
rs753128516
|
0.00004
|
|
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)
|
rs752941297
|
0.00004
|
|
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr)
|
rs139751598
|
0.00004
|
|
NM_006918.5(SC5D):c.86G>A (p.Arg29Gln)
|
rs104894295
|
0.00004
|
|
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu)
|
rs747031778
|
0.00004
|
|
NM_006949.4(STXBP2):c.80del (p.Glu27fs)
|
rs747556765
|
0.00004
|
|
NM_007035.4(KERA):c.835C>T (p.Arg279Ter)
|
rs386833986
|
0.00004
|
|
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)
|
rs141659018
|
0.00004
|
|
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)
|
rs775623164
|
0.00004
|
|
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp)
|
rs748152539
|
0.00004
|
|
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)
|
rs926347298
|
0.00004
|
|
NM_012193.4(FZD4):c.313A>G (p.Met105Val)
|
rs80358284
|
0.00004
|
|
NM_012243.3(SLC35A3):c.680dup (p.Asp227fs)
|
rs866803539
|
0.00004
|
|
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter)
|
rs370907055
|
0.00004
|
|
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile)
|
rs121908535
|
0.00004
|
|
NM_014270.5(SLC7A9):c.511C>T (p.Arg171Trp)
|
rs758242098
|
0.00004
|
|
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)
|
rs121908484
|
0.00004
|
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
|
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs)
|
rs794726855
|
0.00004
|
|
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val)
|
rs780761368
|
0.00004
|
|
NM_014855.3(AP5Z1):c.1033C>T (p.Arg345Ter)
|
rs762066700
|
0.00004
|
|
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)
|
rs562932233
|
0.00004
|
|
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)
|
rs149195472
|
0.00004
|
|
NM_015065.3(EXPH5):c.939del (p.Asn314fs)
|
rs747159785
|
0.00004
|
|
NM_015426.5(POC1A):c.649C>T (p.Arg217Trp)
|
rs372247136
|
0.00004
|
|
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter)
|
rs756198077
|
0.00004
|
|
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs)
|
rs755903123
|
0.00004
|
|
NM_015909.4(NBAS):c.2423+404G>C
|
rs1019313682
|
0.00004
|
|
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp)
|
rs527236031
|
0.00004
|
|
NM_016013.4(NDUFAF1):c.631C>T (p.Arg211Cys)
|
rs387906958
|
0.00004
|
|
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn)
|
rs28942109
|
0.00004
|
|
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln)
|
rs770654508
|
0.00004
|
|
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp)
|
rs769570290
|
0.00004
|
|
NM_016180.5(SLC45A2):c.1256C>T (p.Pro419Leu)
|
rs530738094
|
0.00004
|
|
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)
|
rs1270302810
|
0.00004
|
|
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln)
|
rs368053088
|
0.00004
|
|
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu)
|
rs886052676
|
0.00004
|
|
NM_016247.4(IMPG2):c.3023-6_3030dup
|
rs754995805
|
0.00004
|
|
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)
|
rs761879076
|
0.00004
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
rs199628364
|
0.00004
|
|
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter)
|
rs771254375
|
0.00004
|
|
NM_016955.4(SEPSECS):c.114+3A>G
|
rs748528138
|
0.00004
|
|
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)
|
rs146539065
|
0.00004
|
|
NM_017433.5(MYO3A):c.1193C>A (p.Ser398Ter)
|
rs769540160
|
0.00004
|
|
NM_017547.4(FOXRED1):c.1261G>A (p.Val421Met)
|
rs199542988
|
0.00004
|
|
NM_017613.4(DONSON):c.1047-9A>G
|
rs779149681
|
0.00004
|
|
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
|
rs28940869
|
0.00004
|
|
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)
|
rs267606960
|
0.00004
|
|
NM_017775.4(TTC19):c.583C>T (p.Gln195Ter)
|
rs764720544
|
0.00004
|
|
NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg)
|
rs753347128
|
0.00004
|
|
NM_017849.4(TMEM127):c.245-1G>C
|
rs121908821
|
0.00004
|
|
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys)
|
rs193204571
|
0.00004
|
|
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)
|
rs121909283
|
0.00004
|
|
NM_018062.4(FANCL):c.472-1G>C
|
rs768814501
|
0.00004
|
|
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)
|
rs267608687
|
0.00004
|
|
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)
|
rs622288
|
0.00004
|
|
NM_018122.5(DARS2):c.536G>A (p.Arg179His)
|
rs121918210
|
0.00004
|
|
NM_018192.4(P3H2):c.1372C>T (p.Gln458Ter)
|
rs895635914
|
0.00004
|
|
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp)
|
rs387907067
|
0.00004
|
|
NM_018946.4(NANS):c.562T>C (p.Tyr188His)
|
rs878852981
|
0.00004
|
|
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro)
|
rs267606651
|
0.00004
|
|
NM_019109.5(ALG1):c.212C>T (p.Ser71Phe)
|
rs200605408
|
0.00004
|
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
|
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter)
|
rs199835443
|
0.00004
|
|
NM_020366.4(RPGRIP1):c.1468-2A>G
|
rs751342895
|
0.00004
|
|
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)
|
rs192003551
|
0.00004
|
|
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)
|
rs121908372
|
0.00004
|
|
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)
|
rs372760913
|
0.00004
|
|
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)
|
rs775076977
|
0.00004
|
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
|
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro)
|
rs121918421
|
0.00004
|
|
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)
|
rs761714818
|
0.00004
|
|
NM_022041.4(GAN):c.1634G>A (p.Arg545His)
|
rs746486469
|
0.00004
|
|
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)
|
rs119471023
|
0.00004
|
|
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)
|
rs119103224
|
0.00004
|
|
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
|
rs141030969
|
0.00004
|
|
NM_022773.4(LMF1):c.1323del (p.Phe441fs)
|
rs760536168
|
0.00004
|
|
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp)
|
rs142968179
|
0.00004
|
|
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met)
|
rs201994921
|
0.00004
|
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00004
|
|
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter)
|
rs374596700
|
0.00004
|
|
NM_024596.5(MCPH1):c.322-1G>C
|
rs201721894
|
0.00004
|
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00004
|
|
NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter)
|
rs771232897
|
0.00004
|
|
NM_024818.6(UBA5):c.214C>T (p.Arg72Cys)
|
rs778957097
|
0.00004
|
|
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)
|
rs398122978
|
0.00004
|
|
NM_024989.4(PGAP1):c.2042del (p.Leu681fs)
|
rs756609752
|
0.00004
|
|
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu)
|
rs150219690
|
0.00004
|
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
|
NM_025132.4(WDR19):c.781dup (p.Thr261fs)
|
rs748656635
|
0.00004
|
|
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)
|
rs375644378
|
0.00004
|
|
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr)
|
rs372993798
|
0.00004
|
|
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)
|
rs145999922
|
0.00004
|
|
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)
|
rs121908172
|
0.00004
|
|
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)
|
rs767864243
|
0.00004
|
|
NM_031307.4(PUS3):c.212A>G (p.Tyr71Cys)
|
rs761792490
|
0.00004
|
|
NM_031885.5(BBS2):c.534+1G>T
|
rs773862084
|
0.00004
|
|
NM_031924.8(RSPH3):c.205-2A>G
|
rs142800871
|
0.00004
|
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
|
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)
|
rs121909762
|
0.00004
|
|
NM_032520.5(GNPTG):c.610-2A>G
|
rs193302855
|
0.00004
|
|
NM_032581.4(HYCC1):c.125dup (p.Tyr42Ter)
|
rs780540757
|
0.00004
|
|
NM_032634.3(PIGO):c.3069+5G>A
|
rs368953604
|
0.00004
|
|
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter)
|
rs200280742
|
0.00004
|
|
NM_033629.6(TREX1):c.290G>A (p.Arg97His)
|
rs200773268
|
0.00004
|
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
|
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)
|
rs199622112
|
0.00004
|
|
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)
|
rs121908640
|
0.00004
|
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00004
|
|
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)
|
rs765338121
|
0.00004
|
|
NM_054012.4(ASS1):c.892del (p.Glu298fs)
|
rs770362721
|
0.00004
|
|
NM_057176.3(BSND):c.3G>A (p.Met1Ile)
|
rs74315286
|
0.00004
|
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
|
NM_058216.3(RAD51C):c.774del (p.Thr259fs)
|
rs754367349
|
0.00004
|
|
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp)
|
rs281875208
|
0.00004
|
|
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)
|
rs121912952
|
0.00004
|
|
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser)
|
rs763615602
|
0.00004
|
|
NM_130810.4(DNAAF4):c.10C>T (p.Gln4Ter)
|
rs762704959
|
0.00004
|
|
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)
|
rs267606764
|
0.00004
|
|
NM_138691.3(TMC1):c.1676G>A (p.Trp559Ter)
|
rs876657728
|
0.00004
|
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
0.00004
|
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
0.00004
|
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
|
NM_138959.3(VANGL1):c.821G>A (p.Arg274Gln)
|
rs121918219
|
0.00004
|
|
NM_144585.4(SLC22A12):c.650C>T (p.Thr217Met)
|
rs121907893
|
0.00004
|
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
|
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys)
|
rs782088056
|
0.00004
|
|
NM_145207.3(AFG2A):c.2531C>T (p.Ala844Val)
|
rs796051892
|
0.00004
|
|
NM_145691.4(ATPAF2):c.133+1G>T
|
rs147941728
|
0.00004
|
|
NM_152384.3(BBS5):c.143-1G>C
|
rs1054138918
|
0.00004
|
|
NM_152384.3(BBS5):c.619-1G>C
|
rs753234582
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)
|
rs756310864
|
0.00004
|
|
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
|
rs28940315
|
0.00004
|
|
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)
|
rs116733939
|
0.00004
|
|
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn)
|
rs753340395
|
0.00004
|
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
|
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter)
|
rs371364257
|
0.00004
|
|
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile)
|
rs761558985
|
0.00004
|
|
NM_153006.3(NAGS):c.1526G>A (p.Arg509Gln)
|
rs759076608
|
0.00004
|
|
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)
|
rs768633670
|
0.00004
|
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
|
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)
|
rs200320892
|
0.00004
|
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
|
NM_172351.3(CD46):c.286+2T>G
|
rs769742294
|
0.00004
|
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
|
NM_174878.3(CLRN1):c.127G>A (p.Gly43Arg)
|
rs111033434
|
0.00004
|
|
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)
|
rs754579374
|
0.00004
|
|
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)
|
rs587777577
|
0.00004
|
|
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)
|
rs145873635
|
0.00004
|
|
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys)
|
rs387906847
|
0.00004
|
|
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)
|
rs398124579
|
0.00004
|
|
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter)
|
rs202086317
|
0.00004
|
|
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)
|
rs199422297
|
0.00004
|
|
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu)
|
rs121917883
|
0.00004
|
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
|
NM_203395.3(IYD):c.301C>T (p.Arg101Trp)
|
rs121918138
|
0.00004
|
|
NM_203486.3(DLL3):c.945_946del (p.Ala317fs)
|
rs786200900
|
0.00004
|
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
|
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)
|
rs201238640
|
0.00004
|
|
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
|
rs771903291
|
0.00004
|
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00004
|
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
0.00004
|
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
|
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)
|
rs527624522
|
0.00004
|
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
|
NR_003051.3(RMRP):n.64C>T
|
rs786204684
|
0.00004
|
|
NR_033294.2(SNORD118):n.72A>G
|
rs201558321
|
0.00004
|
|
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)
|
rs148207467
|
0.00003
|
|
NM_000016.6(ACADM):c.388-14A>G
|
rs372525651
|
0.00003
|
|
NM_000016.6(ACADM):c.407C>T (p.Ala136Val)
|
rs750792245
|
0.00003
|
|
NM_000016.6(ACADM):c.426del (p.Lys143fs)
|
rs777998984
|
0.00003
|
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
|
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)
|
rs754359356
|
0.00003
|
|
NM_000016.6(ACADM):c.599+3A>G
|
rs375921211
|
0.00003
|
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
|
NM_000017.4(ACADS):c.274G>T (p.Gly92Cys)
|
rs121908004
|
0.00003
|
|
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)
|
rs539029862
|
0.00003
|
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
|
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
|
rs112406105
|
0.00003
|
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
|
NM_000018.4(ACADVL):c.946C>T (p.Arg316Trp)
|
rs141756824
|
0.00003
|
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00003
|
|
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)
|
rs747714452
|
0.00003
|
|
NM_000022.4(ADA):c.890C>A (p.Pro297Gln)
|
rs121908718
|
0.00003
|
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
|
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)
|
rs119450944
|
0.00003
|
|
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)
|
rs765070743
|
0.00003
|
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
|
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)
|
rs180177227
|
0.00003
|
|
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)
|
rs180177239
|
0.00003
|
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
0.00003
|
|
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys)
|
rs782334088
|
0.00003
|
|
NM_000035.4(ALDOB):c.-11+1G>C
|
rs181639417
|
0.00003
|
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
|
NM_000041.4(APOE):c.683G>A (p.Trp228Ter)
|
rs121918396
|
0.00003
|
|
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)
|
rs140549609
|
0.00003
|
|
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)
|
rs104893940
|
0.00003
|
|
NM_000046.5(ARSB):c.1178A>C (p.His393Pro)
|
rs118203944
|
0.00003
|
|
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro)
|
rs397514441
|
0.00003
|
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
|
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)
|
rs28940287
|
0.00003
|
|
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)
|
rs767271619
|
0.00003
|
|
NM_000048.4(ASL):c.284G>A (p.Arg95His)
|
rs150244667
|
0.00003
|
|
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)
|
rs1428029508
|
0.00003
|
|
NM_000048.4(ASL):c.611T>C (p.Ile204Thr)
|
rs745502369
|
0.00003
|
|
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)
|
rs766328537
|
0.00003
|
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
|
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)
|
rs751202110
|
0.00003
|
|
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)
|
rs776668666
|
0.00003
|
|
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)
|
rs541408630
|
0.00003
|
|
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)
|
rs750019452
|
0.00003
|
|
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)
|
rs201497300
|
0.00003
|
|
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)
|
rs371840514
|
0.00003
|
|
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)
|
rs746485916
|
0.00003
|
|
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)
|
rs758355520
|
0.00003
|
|
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)
|
rs121907999
|
0.00003
|
|
NM_000055.4(BCHE):c.508G>A (p.Val170Met)
|
rs527843566
|
0.00003
|
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00003
|
|
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp)
|
rs557164942
|
0.00003
|
|
NM_000070.3(CAPN3):c.1993-1G>A
|
rs369552114
|
0.00003
|
|
NM_000070.3(CAPN3):c.802-9G>A
|
rs761211705
|
0.00003
|
|
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)
|
rs771298943
|
0.00003
|
|
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)
|
rs121964972
|
0.00003
|
|
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)
|
rs769080151
|
0.00003
|
|
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)
|
rs781444670
|
0.00003
|
|
NM_000071.3(CBS):c.737-1G>C
|
rs757428597
|
0.00003
|
|
NM_000071.3(CBS):c.775G>A (p.Gly259Ser)
|
rs143124288
|
0.00003
|
|
NM_000071.3(CBS):c.785C>T (p.Thr262Met)
|
rs149119723
|
0.00003
|
|
NM_000079.4(CHRNA1):c.235-323G>A
|
rs750955953
|
0.00003
|
|
NM_000079.4(CHRNA1):c.317G>A (p.Trp106Ter)
|
rs1476453955
|
0.00003
|
|
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs)
|
rs1268475945
|
0.00003
|
|
NM_000082.4(ERCC8):c.650del (p.Arg217fs)
|
rs1561502158
|
0.00003
|
|
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)
|
rs80356703
|
0.00003
|
|
NM_000083.3(CLCN1):c.1167-10T>C
|
rs543120965
|
0.00003
|
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
|
NM_000083.3(CLCN1):c.2596-1G>A
|
rs771721648
|
0.00003
|
|
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser)
|
rs765181341
|
0.00003
|
|
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)
|
rs150885084
|
0.00003
|
|
NM_000085.5(CLCNKB):c.968+1G>A
|
rs201204502
|
0.00003
|
|
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)
|
rs193922165
|
0.00003
|
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
|
NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr)
|
rs376550779
|
0.00003
|
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00003
|
|
NM_000094.4(COL7A1):c.6501+1G>C
|
rs759644973
|
0.00003
|
|
NM_000094.4(COL7A1):c.682+1G>A
|
rs775288140
|
0.00003
|
|
NM_000094.4(COL7A1):c.7344+1G>T
|
rs754469339
|
0.00003
|
|
NM_000097.7(CPOX):c.601G>A (p.Glu201Lys)
|
rs1374394802
|
0.00003
|
|
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)
|
rs368311455
|
0.00003
|
|
NM_000098.3(CPT2):c.1813G>C (p.Val605Leu)
|
rs751557097
|
0.00003
|
|
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln)
|
rs764849762
|
0.00003
|
|
NM_000101.4(CYBA):c.371C>T (p.Ala124Val)
|
rs179363894
|
0.00003
|
|
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln)
|
rs104894154
|
0.00003
|
|
NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter)
|
rs1173000590
|
0.00003
|
|
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)
|
rs879802265
|
0.00003
|
|
NM_000108.5(DLD):c.1081A>G (p.Met361Val)
|
rs121964993
|
0.00003
|
|
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter)
|
rs1057516968
|
0.00003
|
|
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter)
|
rs141597515
|
0.00003
|
|
NM_000111.3(SLC26A3):c.358G>A (p.Gly120Ser)
|
rs386833479
|
0.00003
|
|
NM_000112.4(SLC26A2):c.1639C>T (p.Gln547Ter)
|
rs775143472
|
0.00003
|
|
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)
|
rs386833497
|
0.00003
|
|
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val)
|
rs104893918
|
0.00003
|
|
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)
|
rs760768475
|
0.00003
|
|
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)
|
rs778865255
|
0.00003
|
|
NM_000122.2(ERCC3):c.1757_1758del (p.Gln586fs)
|
rs774261851
|
0.00003
|
|
NM_000123.4(ERCC5):c.1096C>T (p.Arg366Ter)
|
rs966111552
|
0.00003
|
|
NM_000124.4(ERCC6):c.1526+1G>T
|
rs371739894
|
0.00003
|
|
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)
|
rs376526037
|
0.00003
|
|
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)
|
rs121917904
|
0.00003
|
|
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)
|
rs771781694
|
0.00003
|
|
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)
|
rs773905328
|
0.00003
|
|
NM_000128.4(F11):c.1489C>T (p.Arg497Ter)
|
rs375422404
|
0.00003
|
|
NM_000128.4(F11):c.1778C>T (p.Thr593Met)
|
rs145906668
|
0.00003
|
|
NM_000128.4(F11):c.325G>A (p.Ala109Thr)
|
rs768474112
|
0.00003
|
|
NM_000135.4(FANCA):c.190-2A>T
|
rs183350210
|
0.00003
|
|
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
|
rs762902309
|
0.00003
|
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00003
|
|
NM_000137.4(FAH):c.1A>G (p.Met1Val)
|
rs1057517972
|
0.00003
|
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00003
|
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
|
NM_000144.5(FXN):c.389G>T (p.Gly130Val)
|
rs104894107
|
0.00003
|
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00003
|
|
NM_000152.5(GAA):c.1326+1G>A
|
rs1205507761
|
0.00003
|
|
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)
|
rs752735168
|
0.00003
|
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
|
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)
|
rs770485731
|
0.00003
|
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
|
NM_000153.4(GALC):c.388G>A (p.Glu130Lys)
|
rs374635469
|
0.00003
|
|
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)
|
rs377274761
|
0.00003
|
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00003
|
|
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
|
rs980603321
|
0.00003
|
|
NM_000154.2(GALK1):c.94G>A (p.Val32Met)
|
rs104894576
|
0.00003
|
|
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)
|
rs111033810
|
0.00003
|
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
|
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00003
|
|
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter)
|
rs1057524499
|
0.00003
|
|
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)
|
rs758447515
|
0.00003
|
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
|
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)
|
rs381418
|
0.00003
|
|
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)
|
rs80338673
|
0.00003
|
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
|
NM_000158.4(GBE1):c.70del (p.Asp24fs)
|
rs1407149518
|
0.00003
|
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00003
|
|
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)
|
rs567564095
|
0.00003
|
|
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)
|
rs764608975
|
0.00003
|
|
NM_000159.4(GCDH):c.344G>A (p.Cys115Tyr)
|
rs776758971
|
0.00003
|
|
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)
|
rs1057516344
|
0.00003
|
|
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)
|
rs766518430
|
0.00003
|
|
NM_000162.5(GCK):c.106C>T (p.Arg36Trp)
|
rs762263694
|
0.00003
|
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
|
NM_000170.3(GLDC):c.2665+1G>C
|
rs149070244
|
0.00003
|
|
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)
|
rs188269735
|
0.00003
|
|
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)
|
rs1207147043
|
0.00003
|
|
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His)
|
rs281864919
|
0.00003
|
|
NM_000173.7(GP1BA):c.1620G>A (p.Trp540Ter)
|
rs267606849
|
0.00003
|
|
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter)
|
rs774419705
|
0.00003
|
|
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)
|
rs61749668
|
0.00003
|
|
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)
|
rs752317877
|
0.00003
|
|
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)
|
rs375329638
|
0.00003
|
|
NM_000187.4(HGD):c.367G>A (p.Gly123Arg)
|
rs564979861
|
0.00003
|
|
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp)
|
rs575222284
|
0.00003
|
|
NM_000193.4(SHH):c.708C>A (p.Ser236Arg)
|
rs587778806
|
0.00003
|
|
NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys)
|
rs80358218
|
0.00003
|
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00003
|
|
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)
|
rs374621913
|
0.00003
|
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00003
|
|
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)
|
rs772416503
|
0.00003
|
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
|
NM_000203.5(IDUA):c.793-1G>A
|
rs762779421
|
0.00003
|
|
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)
|
rs369090960
|
0.00003
|
|
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter)
|
rs121964913
|
0.00003
|
|
NM_000204.5(CFI):c.1429+1G>C
|
rs368555424
|
0.00003
|
|
NM_000204.5(CFI):c.485G>A (p.Gly162Asp)
|
rs546607673
|
0.00003
|
|
NM_000207.3(INS):c.16C>T (p.Arg6Cys)
|
rs121908278
|
0.00003
|
|
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser)
|
rs137852616
|
0.00003
|
|
NM_000215.4(JAK3):c.2680+3G>C
|
rs749481781
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
|
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs)
|
rs769967565
|
0.00003
|
|
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)
|
rs747916314
|
0.00003
|
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00003
|
|
NM_000246.4(CIITA):c.2888+1G>A
|
rs372826934
|
0.00003
|
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
|
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter)
|
rs138695265
|
0.00003
|
|
NM_000255.4(MMUT):c.1084-10A>G
|
rs777031588
|
0.00003
|
|
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)
|
rs121918254
|
0.00003
|
|
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)
|
rs143023066
|
0.00003
|
|
NM_000255.4(MMUT):c.935G>T (p.Gly312Val)
|
rs864309734
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)
|
rs397515907
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1624+4A>T
|
rs397515916
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)
|
rs397516005
|
0.00003
|
|
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys)
|
rs148808089
|
0.00003
|
|
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)
|
rs730880870
|
0.00003
|
|
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)
|
rs886039030
|
0.00003
|
|
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg)
|
rs121913632
|
0.00003
|
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
|
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys)
|
rs45611033
|
0.00003
|
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
|
NM_000260.4(MYO7A):c.1A>G (p.Met1Val)
|
rs797044518
|
0.00003
|
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
|
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)
|
rs111033181
|
0.00003
|
|
NM_000260.4(MYO7A):c.6439-2A>G
|
rs397516330
|
0.00003
|
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00003
|
|
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590
|
0.00003
|
|
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)
|
rs377515417
|
0.00003
|
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
|
NM_000271.5(NPC1):c.423_424dup (p.Lys142fs)
|
rs773941375
|
0.00003
|
|
NM_000274.4(OAT):c.596C>A (p.Pro199Gln)
|
rs267606925
|
0.00003
|
|
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter)
|
rs121965057
|
0.00003
|
|
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)
|
rs757286784
|
0.00003
|
|
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)
|
rs772019064
|
0.00003
|
|
NM_000275.3(OCA2):c.157del (p.Arg53fs)
|
rs758894409
|
0.00003
|
|
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)
|
rs374415755
|
0.00003
|
|
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs)
|
rs746307353
|
0.00003
|
|
NM_000275.3(OCA2):c.2158C>T (p.Arg720Cys)
|
rs141545475
|
0.00003
|
|
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)
|
rs780296175
|
0.00003
|
|
NM_000275.3(OCA2):c.2378G>A (p.Cys793Tyr)
|
rs1026811783
|
0.00003
|
|
NM_000277.3(PAH):c.1066T>C (p.Tyr356His)
|
rs62507320
|
0.00003
|
|
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
|
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)
|
rs376480977
|
0.00003
|
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
|
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)
|
rs752255985
|
0.00003
|
|
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)
|
rs199475619
|
0.00003
|
|
NM_000277.3(PAH):c.2T>C (p.Met1Thr)
|
rs62508575
|
0.00003
|
|
NM_000277.3(PAH):c.428A>T (p.Asp143Val)
|
rs199475572
|
0.00003
|
|
NM_000277.3(PAH):c.516G>T (p.Gln172His)
|
rs192592111
|
0.00003
|
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
|
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)
|
rs199475582
|
0.00003
|
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
|
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)
|
rs62514958
|
0.00003
|
|
NM_000283.4(PDE6B):c.1107+3A>G
|
rs370898371
|
0.00003
|
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
|
NM_000286.3(PEX12):c.126+1G>T
|
rs144259891
|
0.00003
|
|
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)
|
rs61752105
|
0.00003
|
|
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)
|
rs61753219
|
0.00003
|
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
|
NM_000288.4(PEX7):c.858_867del (p.Glu287fs)
|
rs1185311207
|
0.00003
|
|
NM_000298.6(PKLR):c.401T>A (p.Val134Asp)
|
rs574051756
|
0.00003
|
|
NM_000298.6(PKLR):c.994_1003dup (p.Val335fs)
|
rs1356806251
|
0.00003
|
|
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)
|
rs746610168
|
0.00003
|
|
NM_000303.3(PMM2):c.640-9T>G
|
rs370160676
|
0.00003
|
|
NM_000308.4(CTSA):c.497del (p.Glu166fs)
|
rs1159382283
|
0.00003
|
|
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu)
|
rs386833650
|
0.00003
|
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
|
NM_000317.3(PTS):c.370G>T (p.Val124Leu)
|
rs150726932
|
0.00003
|
|
NM_000317.3(PTS):c.84-291A>G
|
rs1480995114
|
0.00003
|
|
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg)
|
rs757483045
|
0.00003
|
|
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys)
|
rs137853291
|
0.00003
|
|
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)
|
rs1420672586
|
0.00003
|
|
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00003
|
|
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)
|
rs61751277
|
0.00003
|
|
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)
|
rs61752905
|
0.00003
|
|
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
|
rs80338958
|
0.00003
|
|
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp)
|
rs368256039
|
0.00003
|
|
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)
|
rs199473101
|
0.00003
|
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
|
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr)
|
rs137854603
|
0.00003
|
|
NM_000338.3(SLC12A1):c.1432G>A (p.Gly478Arg)
|
rs758166864
|
0.00003
|
|
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr)
|
rs765347751
|
0.00003
|
|
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln)
|
rs747229048
|
0.00003
|
|
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)
|
rs1453871309
|
0.00003
|
|
NM_000348.4(SRD5A2):c.548-2A>C
|
rs61750397
|
0.00003
|
|
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser)
|
rs763296857
|
0.00003
|
|
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)
|
rs61748556
|
0.00003
|
|
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)
|
rs201855602
|
0.00003
|
|
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His)
|
rs61750121
|
0.00003
|
|
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys)
|
rs62642573
|
0.00003
|
|
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)
|
rs61750142
|
0.00003
|
|
NM_000350.3(ABCA4):c.4539+2001G>A
|
rs1457937638
|
0.00003
|
|
NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=)
|
rs751844313
|
0.00003
|
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
|
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)
|
rs61750564
|
0.00003
|
|
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)
|
rs61751406
|
0.00003
|
|
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)
|
rs61753029
|
0.00003
|
|
NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met)
|
rs61753032
|
0.00003
|
|
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)
|
rs61753033
|
0.00003
|
|
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)
|
rs61748521
|
0.00003
|
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00003
|
|
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)
|
rs121918724
|
0.00003
|
|
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln)
|
rs781006633
|
0.00003
|
|
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser)
|
rs1437822062
|
0.00003
|
|
NM_000359.3(TGM1):c.876+2T>C
|
rs151054393
|
0.00003
|
|
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)
|
rs121918717
|
0.00003
|
|
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)
|
rs771351747
|
0.00003
|
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00003
|
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
|
NM_000374.5(UROD):c.842G>T (p.Gly281Val)
|
rs121918057
|
0.00003
|
|
NM_000375.3(UROS):c.661-31T>G
|
rs750180293
|
0.00003
|
|
NM_000375.3(UROS):c.683C>T (p.Thr228Met)
|
rs121908014
|
0.00003
|
|
NM_000379.4(XDH):c.445C>T (p.Arg149Cys)
|
rs72549369
|
0.00003
|
|
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)
|
rs72547562
|
0.00003
|
|
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)
|
rs72547571
|
0.00003
|
|
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp)
|
rs777902199
|
0.00003
|
|
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)
|
rs199919553
|
0.00003
|
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
|
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)
|
rs398123351
|
0.00003
|
|
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)
|
rs572237881
|
0.00003
|
|
NM_000419.5(ITGA2B):c.2602-3C>G
|
rs763330792
|
0.00003
|
|
NM_000426.4(LAMA2):c.2451-2A>G
|
rs993196576
|
0.00003
|
|
NM_000426.4(LAMA2):c.4960-17C>A
|
rs758048596
|
0.00003
|
|
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
|
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)
|
rs1209130981
|
0.00003
|
|
NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys)
|
rs376993881
|
0.00003
|
|
NM_000431.4(MVK):c.442G>A (p.Ala148Thr)
|
rs104895298
|
0.00003
|
|
NM_000433.4(NCF2):c.550C>T (p.Arg184Ter)
|
rs766745748
|
0.00003
|
|
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)
|
rs201660407
|
0.00003
|
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
|
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)
|
rs121908363
|
0.00003
|
|
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)
|
rs757820624
|
0.00003
|
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
|
NM_000448.3(RAG1):c.1303A>G (p.Met435Val)
|
rs141524540
|
0.00003
|
|
NM_000448.3(RAG1):c.2189G>T (p.Cys730Phe)
|
rs770771227
|
0.00003
|
|
NM_000448.3(RAG1):c.2210G>A (p.Arg737His)
|
rs104894286
|
0.00003
|
|
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter)
|
rs754502950
|
0.00003
|
|
NM_000452.3(SLC10A2):c.318C>A (p.Cys106Ter)
|
rs370438426
|
0.00003
|
|
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu)
|
rs121909176
|
0.00003
|
|
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)
|
rs377153250
|
0.00003
|
|
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)
|
rs587781948
|
0.00003
|
|
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)
|
rs879253880
|
0.00003
|
|
NM_000466.3(PEX1):c.721del (p.Ser241fs)
|
rs894289737
|
0.00003
|
|
NM_000478.6(ALPL):c.1120G>A (p.Val374Met)
|
rs552831415
|
0.00003
|
|
NM_000478.6(ALPL):c.655A>G (p.Met219Val)
|
rs772432010
|
0.00003
|
|
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)
|
rs121918017
|
0.00003
|
|
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00003
|
|
NM_000487.6(ARSA):c.542dup (p.Leu183fs)
|
rs776748338
|
0.00003
|
|
NM_000487.6(ARSA):c.677C>T (p.Ala226Val)
|
rs74315468
|
0.00003
|
|
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)
|
rs74315470
|
0.00003
|
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00003
|
|
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
|
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)
|
rs193922511
|
0.00003
|
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
|
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter)
|
rs200374326
|
0.00003
|
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00003
|
|
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)
|
rs118204448
|
0.00003
|
|
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)
|
rs149239881
|
0.00003
|
|
NM_000517.4(HBA2):c.142G>C (p.Asp48His)
|
rs281864834
|
0.00003
|
|
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg)
|
rs41328049
|
0.00003
|
|
NM_000518.5(HBB):c.-140C>T
|
rs34999973
|
0.00003
|
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
|
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys)
|
rs121907958
|
0.00003
|
|
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)
|
rs121907985
|
0.00003
|
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
|
NM_000527.5(LDLR):c.-121T>C
|
rs777716188
|
0.00003
|
|
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)
|
rs755449669
|
0.00003
|
|
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)
|
rs773658037
|
0.00003
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
rs144614838
|
0.00003
|
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
rs137929307
|
0.00003
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
rs746118995
|
0.00003
|
|
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00003
|
|
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)
|
rs750474121
|
0.00003
|
|
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)
|
rs774723292
|
0.00003
|
|
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn)
|
rs879254554
|
0.00003
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
rs121908026
|
0.00003
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
rs373822756
|
0.00003
|
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00003
|
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
|
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)
|
rs761954844
|
0.00003
|
|
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp)
|
rs104894660
|
0.00003
|
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00003
|
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
|
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)
|
rs746102997
|
0.00003
|
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
|
NM_000535.7(PMS2):c.2521del (p.Trp841fs)
|
rs886039646
|
0.00003
|
|
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)
|
rs193922574
|
0.00003
|
|
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg)
|
rs36001797
|
0.00003
|
|
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)
|
rs864309559
|
0.00003
|
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
|
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)
|
rs779723153
|
0.00003
|
|
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
|
rs120074122
|
0.00003
|
|
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)
|
rs587779408
|
0.00003
|
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00003
|
|
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)
|
rs1228068212
|
0.00003
|
|
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)
|
rs121918670
|
0.00003
|
|
NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter)
|
rs780433845
|
0.00003
|
|
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter)
|
rs747319628
|
0.00003
|
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
|
NM_000660.7(TGFB1):c.466C>T (p.Arg156Cys)
|
rs200482214
|
0.00003
|
|
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)
|
rs376456598
|
0.00003
|
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
|
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)
|
rs398123499
|
0.00003
|
|
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)
|
rs200137189
|
0.00003
|
|
NM_000720.4(CACNA1D):c.1127C>T (p.Ala376Val)
|
rs759274321
|
0.00003
|
|
NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys)
|
rs387907324
|
0.00003
|
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00003
|
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00003
|
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
|
NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)
|
rs397514688
|
0.00003
|
|
NM_000823.4(GHRHR):c.431T>A (p.Leu144His)
|
rs121918118
|
0.00003
|
|
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)
|
rs121434304
|
0.00003
|
|
NM_001001548.3(CD36):c.609+1G>A
|
rs755124649
|
0.00003
|
|
NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser)
|
rs72549322
|
0.00003
|
|
NM_001003722.2(GLE1):c.241C>T (p.Gln81Ter)
|
rs772765696
|
0.00003
|
|
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)
|
rs281875236
|
0.00003
|
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
|
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter)
|
rs751868289
|
0.00003
|
|
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)
|
rs137853859
|
0.00003
|
|
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala)
|
rs1053773776
|
0.00003
|
|
NM_001010867.4(IBA57):c.316del (p.Thr106fs)
|
rs757794637
|
0.00003
|
|
NM_001010874.5(TECRL):c.586C>T (p.Arg196Ter)
|
rs539578837
|
0.00003
|
|
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)
|
rs368110732
|
0.00003
|
|
NM_001010892.3(RSPH4A):c.1490dup (p.Ser498fs)
|
rs762267064
|
0.00003
|
|
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter)
|
rs771063992
|
0.00003
|
|
NM_001012339.3(DNAJC21):c.983+1G>A
|
rs368148362
|
0.00003
|
|
NM_001014342.3(FLG2):c.632C>G (p.Ser211Ter)
|
rs1050823116
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2605+1G>A
|
rs142365855
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs)
|
rs775517107
|
0.00003
|
|
NM_001036.6(RYR3):c.6208A>G (p.Met2070Val)
|
rs769938343
|
0.00003
|
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
|
NM_001041.4(SI):c.2401G>T (p.Glu801Ter)
|
rs200972419
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00003
|
|
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)
|
rs2808001
|
0.00003
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
0.00003
|
|
NM_001080442.3(SLC38A8):c.264C>G (p.Tyr88Ter)
|
rs761388176
|
0.00003
|
|
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg)
|
rs753558336
|
0.00003
|
|
NM_001080476.3(GRXCR1):c.628-9C>A
|
rs606231120
|
0.00003
|
|
NM_001080510.5(METTL23):c.470_471del (p.Leu157fs)
|
rs760933323
|
0.00003
|
|
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
0.00003
|
|
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)
|
rs566060177
|
0.00003
|
|
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)
|
rs201951824
|
0.00003
|
|
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr)
|
rs137853212
|
0.00003
|
|
NM_001083961.2(WDR62):c.3462+1G>A
|
rs369923535
|
0.00003
|
|
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)
|
rs121909523
|
0.00003
|
|
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)
|
rs1491132258
|
0.00003
|
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
|
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His)
|
rs759532318
|
0.00003
|
|
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)
|
rs374163823
|
0.00003
|
|
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)
|
rs779160677
|
0.00003
|
|
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)
|
rs201255508
|
0.00003
|
|
NM_001126108.2(SLC12A3):c.2585G>A (p.Arg862His)
|
rs267607051
|
0.00003
|
|
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)
|
rs146158333
|
0.00003
|
|
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)
|
rs568513106
|
0.00003
|
|
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)
|
rs140551719
|
0.00003
|
|
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)
|
rs28931569
|
0.00003
|
|
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter)
|
rs758944159
|
0.00003
|
|
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)
|
rs148860301
|
0.00003
|
|
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)
|
rs121908955
|
0.00003
|
|
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)
|
rs141497053
|
0.00003
|
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
|
NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp)
|
rs559401066
|
0.00003
|
|
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)
|
rs397514532
|
0.00003
|
|
NM_001142784.3(IL11RA):c.866A>G (p.His289Arg)
|
rs747505958
|
0.00003
|
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
|
NM_001142800.2(EYS):c.7228+1G>A
|
rs758899480
|
0.00003
|
|
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)
|
rs374714909
|
0.00003
|
|
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)
|
rs779983752
|
0.00003
|
|
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)
|
rs763028732
|
0.00003
|
|
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)
|
rs1161453292
|
0.00003
|
|
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)
|
rs888739369
|
0.00003
|
|
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)
|
rs1326370032
|
0.00003
|
|
NM_001143986.2(TLE6):c.1133del (p.Ala378fs)
|
rs776453307
|
0.00003
|
|
NM_001145128.3(AK9):c.3391G>A (p.Glu1131Lys)
|
rs574889890
|
0.00003
|
|
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg)
|
rs74315438
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter)
|
rs267607137
|
0.00003
|
|
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)
|
rs376699648
|
0.00003
|
|
NM_001164508.2(NEB):c.11910+1G>A
|
rs774495973
|
0.00003
|
|
NM_001164508.2(NEB):c.12018+1G>A
|
rs762278237
|
0.00003
|
|
NM_001164508.2(NEB):c.19836+1G>A
|
rs1446930968
|
0.00003
|
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
|
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)
|
rs754272530
|
0.00003
|
|
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln)
|
rs772434460
|
0.00003
|
|
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg)
|
rs72653787
|
0.00003
|
|
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln)
|
rs72653794
|
0.00003
|
|
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)
|
rs63749856
|
0.00003
|
|
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His)
|
rs63750622
|
0.00003
|
|
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)
|
rs755459875
|
0.00003
|
|
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser)
|
rs758972393
|
0.00003
|
|
NM_001177316.2(SLC34A3):c.671del (p.Leu224fs)
|
rs755196320
|
0.00003
|
|
NM_001182.5(ALDH7A1):c.1411_1412insG (p.Leu471fs)
|
rs772766995
|
0.00003
|
|
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys)
|
rs200102503
|
0.00003
|
|
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala)
|
rs777829351
|
0.00003
|
|
NM_001182.5(ALDH7A1):c.965C>T (p.Ala322Val)
|
rs777483675
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu)
|
rs121918334
|
0.00003
|
|
NM_001193329.3(AOPEP):c.763C>T (p.Arg255Ter)
|
rs779393035
|
0.00003
|
|
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter)
|
rs267606718
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)
|
rs398122965
|
0.00003
|
|
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)
|
rs985064686
|
0.00003
|
|
NM_001199799.2(ILDR1):c.421G>C (p.Gly141Arg)
|
rs765136820
|
0.00003
|
|
NM_001206744.2(TPO):c.1768+1G>A
|
rs1450683528
|
0.00003
|
|
NM_001211.6(BUB1B):c.2386-11A>G
|
rs751421137
|
0.00003
|
|
NM_001212.4(C1QBP):c.612C>G (p.Phe204Leu)
|
rs767427194
|
0.00003
|
|
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)
|
rs139228801
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter)
|
rs780960812
|
0.00003
|
|
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)
|
rs1450563045
|
0.00003
|
|
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe)
|
rs369484186
|
0.00003
|
|
NM_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met)
|
rs768140716
|
0.00003
|
|
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)
|
rs727504198
|
0.00003
|
|
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter)
|
rs747469275
|
0.00003
|
|
NM_001267727.2(ARSG):c.983-2_983-1del
|
rs761100309
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter)
|
rs767595964
|
0.00003
|
|
NM_001277115.2(DNAH11):c.983-1G>T
|
rs777285019
|
0.00003
|
|
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)
|
rs758395213
|
0.00003
|
|
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)
|
rs398123061
|
0.00003
|
|
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)
|
rs398123018
|
0.00003
|
|
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile)
|
rs397516686
|
0.00003
|
|
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter)
|
rs530874854
|
0.00003
|
|
NM_001297.5(CNGB1):c.2893-7G>A
|
rs749199721
|
0.00003
|
|
NM_001298.3(CNGA3):c.1030G>T (p.Glu344Ter)
|
rs369281115
|
0.00003
|
|
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)
|
rs104893621
|
0.00003
|
|
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met)
|
rs104893619
|
0.00003
|
|
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His)
|
rs552069173
|
0.00003
|
|
NM_001298.3(CNGA3):c.1705C>T (p.Arg569Cys)
|
rs757167624
|
0.00003
|
|
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr)
|
rs761554853
|
0.00003
|
|
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter)
|
rs777509481
|
0.00003
|
|
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn)
|
rs374258471
|
0.00003
|
|
NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp)
|
rs370676288
|
0.00003
|
|
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)
|
rs150433582
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs)
|
rs1307758243
|
0.00003
|
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
|
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)
|
rs119103230
|
0.00003
|
|
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter)
|
rs768509996
|
0.00003
|
|
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)
|
rs757836263
|
0.00003
|
|
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)
|
rs121918231
|
0.00003
|
|
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter)
|
rs750345068
|
0.00003
|
|
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)
|
rs80338864
|
0.00003
|
|
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)
|
rs121909767
|
0.00003
|
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
|
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)
|
rs1032242817
|
0.00003
|
|
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)
|
rs80338857
|
0.00003
|
|
NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys)
|
rs774556391
|
0.00003
|
|
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)
|
rs606231229
|
0.00003
|
|
NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln)
|
rs1024152367
|
0.00003
|
|
NM_001365999.1(SZT2):c.4141C>T (p.Arg1381Ter)
|
rs777424455
|
0.00003
|
|
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter)
|
rs145577757
|
0.00003
|
|
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys)
|
rs1304504006
|
0.00003
|
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
0.00003
|
|
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs)
|
rs754698253
|
0.00003
|
|
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His)
|
rs139463637
|
0.00003
|
|
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter)
|
rs772230378
|
0.00003
|
|
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)
|
rs761622153
|
0.00003
|
|
NM_001369.3(DNAH5):c.5710-2A>G
|
rs548521732
|
0.00003
|
|
NM_001369.3(DNAH5):c.6444+1G>A
|
rs781236248
|
0.00003
|
|
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)
|
rs1004027979
|
0.00003
|
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00003
|
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00003
|
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
|
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter)
|
rs724159971
|
0.00003
|
|
NM_001371596.2(MFSD8):c.864-1G>A
|
rs571950296
|
0.00003
|
|
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter)
|
rs149808404
|
0.00003
|
|
NM_001371986.1(UNC80):c.5296C>T (p.Pro1766Ser)
|
rs869025316
|
0.00003
|
|
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro)
|
rs781053760
|
0.00003
|
|
NM_001375405.1(CEP120):c.595G>C (p.Ala199Pro)
|
rs367600930
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu)
|
rs368631447
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg)
|
rs758727391
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg)
|
rs761765709
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys)
|
rs755441612
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly)
|
rs368654019
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter)
|
rs371011047
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr)
|
rs137853028
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg)
|
rs755505546
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys)
|
rs371214841
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.9353+1G>A
|
rs776407305
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter)
|
rs373924400
|
0.00003
|
|
NM_001377265.1(MAPT):c.14G>A (p.Arg5His)
|
rs63750959
|
0.00003
|
|
NM_001378183.1(PIEZO2):c.1661T>A (p.Leu554Ter)
|
rs978512526
|
0.00003
|
|
NM_001378454.1(ALMS1):c.11669-2A>G
|
rs952110960
|
0.00003
|
|
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)
|
rs758195453
|
0.00003
|
|
NM_001378454.1(ALMS1):c.9386dup (p.Pro3130fs)
|
rs1361923069
|
0.00003
|
|
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His)
|
rs754786373
|
0.00003
|
|
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter)
|
rs572666403
|
0.00003
|
|
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala)
|
rs387907058
|
0.00003
|
|
NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg)
|
rs759079269
|
0.00003
|
|
NM_001379270.1(CNGA1):c.105C>A (p.Cys35Ter)
|
rs1237954156
|
0.00003
|
|
NM_001379659.1(ZNF142):c.5098C>T (p.Arg1700Trp)
|
rs367658234
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)
|
rs188119157
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)
|
rs886044666
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)
|
rs775267638
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.2923C>T (p.Gln975Ter)
|
rs863225166
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)
|
rs375009168
|
0.00003
|
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00003
|
|
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)
|
rs559623184
|
0.00003
|
|
NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter)
|
rs548527219
|
0.00003
|
|
NM_001399.5(EDA):c.1094T>C (p.Val365Ala)
|
rs397516654
|
0.00003
|
|
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
0.00003
|
|
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu)
|
rs587781250
|
0.00003
|
|
NM_001558.4(IL10RA):c.302G>A (p.Arg101Gln)
|
rs372372851
|
0.00003
|
|
NM_001609.4(ACADSB):c.655G>A (p.Val219Met)
|
rs553730391
|
0.00003
|
|
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)
|
rs781050795
|
0.00003
|
|
NM_001625.4(AK2):c.498+1G>A
|
rs777503956
|
0.00003
|
|
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln)
|
rs769236847
|
0.00003
|
|
NM_001673.5(ASNS):c.478del (p.Glu160fs)
|
rs797045307
|
0.00003
|
|
NM_001749.4(CAPNS1):c.721+1G>A
|
rs760597333
|
0.00003
|
|
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
|
rs104894214
|
0.00003
|
|
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp)
|
rs373072443
|
0.00003
|
|
NM_001852.4(COL9A2):c.186G>A (p.Pro62=)
|
rs1085307973
|
0.00003
|
|
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)
|
rs201407486
|
0.00003
|
|
NM_001918.5(DBT):c.252G>T (p.Trp84Cys)
|
rs200638406
|
0.00003
|
|
NM_001931.5(DLAT):c.976-1G>A
|
rs367875541
|
0.00003
|
|
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln)
|
rs137854445
|
0.00003
|
|
NM_002016.2(FLG):c.10225C>T (p.Arg3409Ter)
|
rs201356558
|
0.00003
|
|
NM_002016.2(FLG):c.138+1G>C
|
rs756254959
|
0.00003
|
|
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter)
|
rs121909626
|
0.00003
|
|
NM_002035.4(KDSR):c.879G>A (p.Gln293=)
|
rs752611378
|
0.00003
|
|
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)
|
rs780594709
|
0.00003
|
|
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)
|
rs201563456
|
0.00003
|
|
NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter)
|
rs141365537
|
0.00003
|
|
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)
|
rs371427844
|
0.00003
|
|
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
|
rs982218848
|
0.00003
|
|
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln)
|
rs754049402
|
0.00003
|
|
NM_002354.3(EPCAM):c.556-14A>G
|
rs376155665
|
0.00003
|
|
NM_002427.4(MMP13):c.325C>T (p.Arg109Ter)
|
rs369083541
|
0.00003
|
|
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)
|
rs369326210
|
0.00003
|
|
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)
|
rs104894494
|
0.00003
|
|
NM_002435.3(MPI):c.884G>A (p.Arg295His)
|
rs28928906
|
0.00003
|
|
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)
|
rs863224072
|
0.00003
|
|
NM_002439.5(MSH3):c.2436-1G>A
|
rs200639359
|
0.00003
|
|
NM_002439.5(MSH3):c.574C>T (p.Gln192Ter)
|
rs374133543
|
0.00003
|
|
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)
|
rs919177150
|
0.00003
|
|
NM_002529.4(NTRK1):c.1354+1G>T
|
rs764771898
|
0.00003
|
|
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)
|
rs724160001
|
0.00003
|
|
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr)
|
rs587777404
|
0.00003
|
|
NM_002662.5(PLD1):c.1219C>T (p.Arg407Ter)
|
rs200206423
|
0.00003
|
|
NM_002667.5(PLN):c.26G>A (p.Arg9His)
|
rs754782171
|
0.00003
|
|
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)
|
rs121918053
|
0.00003
|
|
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)
|
rs121918049
|
0.00003
|
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00003
|
|
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter)
|
rs113993971
|
0.00003
|
|
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter)
|
rs113993970
|
0.00003
|
|
NM_002778.4(PSAP):c.679_681del (p.Lys227del)
|
rs1431844269
|
0.00003
|
|
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met)
|
rs397507536
|
0.00003
|
|
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)
|
rs727503381
|
0.00003
|
|
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)
|
rs397507525
|
0.00003
|
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
|
NM_002863.5(PYGL):c.1366G>A (p.Val456Met)
|
rs113993979
|
0.00003
|
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00003
|
|
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)
|
rs587780104
|
0.00003
|
|
NM_002905.5(RDH5):c.382G>A (p.Asp128Asn)
|
rs377029071
|
0.00003
|
|
NM_002929.3(GRK1):c.1177C>T (p.Arg393Ter)
|
rs137877289
|
0.00003
|
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
|
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)
|
rs898854295
|
0.00003
|
|
NM_003052.5(SLC34A1):c.1006+1G>A
|
rs200095793
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1053-2A>C
|
rs777004046
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)
|
rs121908887
|
0.00003
|
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
|
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)
|
rs386134194
|
0.00003
|
|
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)
|
rs121908889
|
0.00003
|
|
NM_003119.4(SPG7):c.1553-2A>G
|
rs1229749476
|
0.00003
|
|
NM_003119.4(SPG7):c.1553-2_1553-1del
|
rs772828460
|
0.00003
|
|
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
|
rs753956374
|
0.00003
|
|
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)
|
rs782190413
|
0.00003
|
|
NM_003235.5(TG):c.2311C>T (p.Gln771Ter)
|
rs778743706
|
0.00003
|
|
NM_003235.5(TG):c.6701C>A (p.Ala2234Asp)
|
rs370991693
|
0.00003
|
|
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg)
|
rs137854434
|
0.00003
|
|
NM_003322.6(TULP1):c.1495+1G>A
|
rs281865168
|
0.00003
|
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
|
NM_003560.4(PLA2G6):c.1187-1G>A
|
rs1477656610
|
0.00003
|
|
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys)
|
rs370691849
|
0.00003
|
|
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)
|
rs587784353
|
0.00003
|
|
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)
|
rs926177767
|
0.00003
|
|
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)
|
rs376054085
|
0.00003
|
|
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe)
|
rs752452731
|
0.00003
|
|
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys)
|
rs768737101
|
0.00003
|
|
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)
|
rs886043807
|
0.00003
|
|
NM_003801.4(GPAA1):c.1256C>G (p.Ser419Ter)
|
rs372939605
|
0.00003
|
|
NM_003859.3(DPM1):c.1A>C (p.Met1Leu)
|
rs139624629
|
0.00003
|
|
NM_003865.3(HESX1):c.479G>A (p.Arg160His)
|
rs766234350
|
0.00003
|
|
NM_003907.3(EIF2B5):c.1016G>A (p.Arg339Gln)
|
rs113994069
|
0.00003
|
|
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)
|
rs386833807
|
0.00003
|
|
NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu)
|
rs387906822
|
0.00003
|
|
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu)
|
rs72561723
|
0.00003
|
|
NM_004004.6(GJB2):c.208C>G (p.Pro70Ala)
|
rs200023879
|
0.00003
|
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
|
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
|
rs371086981
|
0.00003
|
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
0.00003
|
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
|
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)
|
rs998045226
|
0.00003
|
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
|
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys)
|
rs886041141
|
0.00003
|
|
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser)
|
rs386833848
|
0.00003
|
|
NM_004320.6(ATP2A1):c.1717C>T (p.Arg573Ter)
|
rs371058445
|
0.00003
|
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
|
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)
|
rs751821289
|
0.00003
|
|
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)
|
rs377656387
|
0.00003
|
|
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)
|
rs767795266
|
0.00003
|
|
NM_004453.4(ETFDH):c.405+3A>T
|
rs796051965
|
0.00003
|
|
NM_004539.4(NARS1):c.50C>T (p.Thr17Met)
|
rs148893823
|
0.00003
|
|
NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp)
|
rs104894270
|
0.00003
|
|
NM_004614.5(TK2):c.156+2T>C
|
rs281865499
|
0.00003
|
|
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)
|
rs374117852
|
0.00003
|
|
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter)
|
rs386833887
|
0.00003
|
|
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)
|
rs143649022
|
0.00003
|
|
NM_004944.4(DNASE1L3):c.317del (p.Tyr106fs)
|
rs1164270727
|
0.00003
|
|
NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs)
|
rs775652214
|
0.00003
|
|
NM_005051.3(QARS1):c.134G>T (p.Gly45Val)
|
rs587777331
|
0.00003
|
|
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys)
|
rs143595616
|
0.00003
|
|
NM_005141.5(FGB):c.139C>T (p.Arg47Ter)
|
rs121909625
|
0.00003
|
|
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)
|
rs375717077
|
0.00003
|
|
NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val)
|
rs750982844
|
0.00003
|
|
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)
|
rs754859909
|
0.00003
|
|
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)
|
rs148784027
|
0.00003
|
|
NM_005422.4(TECTA):c.5826C>A (p.Tyr1942Ter)
|
rs955468054
|
0.00003
|
|
NM_005422.4(TECTA):c.6150C>A (p.Tyr2050Ter)
|
rs374455045
|
0.00003
|
|
NM_005431.2(XRCC2):c.190C>T (p.Arg64Ter)
|
rs151110146
|
0.00003
|
|
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)
|
rs1212623980
|
0.00003
|
|
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)
|
rs757523840
|
0.00003
|
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
|
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)
|
rs1236647498
|
0.00003
|
|
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)
|
rs1057516374
|
0.00003
|
|
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs)
|
rs1553241079
|
0.00003
|
|
NM_005518.4(HMGCS2):c.520T>C (p.Phe174Leu)
|
rs137852636
|
0.00003
|
|
NM_005529.7(HSPG2):c.9033_9034del (p.Pro3011_Ser3012insTer)
|
rs1318029350
|
0.00003
|
|
NM_005535.3(IL12RB1):c.517C>T (p.Arg173Trp)
|
rs144702323
|
0.00003
|
|
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)
|
rs587781384
|
0.00003
|
|
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)
|
rs1005687078
|
0.00003
|
|
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)
|
rs769172044
|
0.00003
|
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
|
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)
|
rs150911354
|
0.00003
|
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
|
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)
|
rs375215281
|
0.00003
|
|
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)
|
rs121909485
|
0.00003
|
|
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter)
|
rs121912628
|
0.00003
|
|
NM_005732.4(RAD50):c.412C>T (p.Arg138Ter)
|
rs786203485
|
0.00003
|
|
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)
|
rs766665118
|
0.00003
|
|
NM_005912.3(MC4R):c.896C>A (p.Pro299His)
|
rs52804924
|
0.00003
|
|
NM_005918.4(MDH2):c.398C>T (p.Pro133Leu)
|
rs375002796
|
0.00003
|
|
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln)
|
rs776483190
|
0.00003
|
|
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)
|
rs140277700
|
0.00003
|
|
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)
|
rs574132670
|
0.00003
|
|
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)
|
rs431905509
|
0.00003
|
|
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser)
|
rs71532864
|
0.00003
|
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00003
|
|
NM_006345.4(SLC30A9):c.86_87dup (p.Cys30fs)
|
rs752245649
|
0.00003
|
|
NM_006383.4(CIB2):c.300_309del (p.Glu100fs)
|
rs765741202
|
0.00003
|
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
|
NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter)
|
rs771379232
|
0.00003
|
|
NM_006493.4(CLN5):c.522dup (p.Trp175fs)
|
rs386833979
|
0.00003
|
|
NM_006567.5(FARS2):c.461C>T (p.Ala154Val)
|
rs749588235
|
0.00003
|
|
NM_006755.2(TALDO1):c.575G>A (p.Arg192His)
|
rs151052416
|
0.00003
|
|
NM_006759.4(UGP2):c.34A>G (p.Met12Val)
|
rs768305634
|
0.00003
|
|
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)
|
rs1390048261
|
0.00003
|
|
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter)
|
rs759511516
|
0.00003
|
|
NM_007055.4(POLR3A):c.1572+1G>A
|
rs141484643
|
0.00003
|
|
NM_007055.4(POLR3A):c.2617-1G>A
|
rs181087667
|
0.00003
|
|
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)
|
rs121913659
|
0.00003
|
|
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu)
|
rs750831299
|
0.00003
|
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00003
|
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
|
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)
|
rs80357498
|
0.00003
|
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00003
|
|
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)
|
rs80356740
|
0.00003
|
|
NM_012062.5(DNM1L):c.1588C>T (p.Arg530Ter)
|
rs1439786424
|
0.00003
|
|
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)
|
rs143747297
|
0.00003
|
|
NM_012144.4(DNAI1):c.1222G>A (p.Val408Met)
|
rs794727103
|
0.00003
|
|
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)
|
rs79833450
|
0.00003
|
|
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser)
|
rs772686744
|
0.00003
|
|
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)
|
rs151103559
|
0.00003
|
|
NM_012200.4(B3GAT3):c.673C>T (p.Arg225Ter)
|
rs377340567
|
0.00003
|
|
NM_012203.2(GRHPR):c.905G>A (p.Arg302His)
|
rs180177323
|
0.00003
|
|
NM_012208.4(HARS2):c.598C>G (p.Leu200Val)
|
rs397515410
|
0.00003
|
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
|
rs727504157
|
0.00003
|
|
NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys)
|
rs372781135
|
0.00003
|
|
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter)
|
rs770582052
|
0.00003
|
|
NM_013335.4(GMPPA):c.790C>T (p.Arg264Ter)
|
rs372628288
|
0.00003
|
|
NM_013339.4(ALG6):c.1249del (p.Gln417fs)
|
rs771069984
|
0.00003
|
|
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
0.00003
|
|
NM_013339.4(ALG6):c.998C>T (p.Ala333Val)
|
rs121908443
|
0.00003
|
|
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)
|
rs267606971
|
0.00003
|
|
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
|
rs267606821
|
0.00003
|
|
NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro)
|
rs777525949
|
0.00003
|
|
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)
|
rs104894492
|
0.00003
|
|
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)
|
rs772881093
|
0.00003
|
|
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter)
|
rs780525233
|
0.00003
|
|
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser)
|
rs199894905
|
0.00003
|
|
NM_014270.5(SLC7A9):c.1060G>A (p.Ala354Thr)
|
rs939028046
|
0.00003
|
|
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn)
|
rs763799125
|
0.00003
|
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
|
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter)
|
rs778055996
|
0.00003
|
|
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)
|
rs748812981
|
0.00003
|
|
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)
|
rs767213195
|
0.00003
|
|
NM_014804.3(KIAA0753):c.2656C>T (p.Arg886Ter)
|
rs370840009
|
0.00003
|
|
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)
|
rs387906991
|
0.00003
|
|
NM_014956.5(CEP164):c.1669dup (p.Glu557fs)
|
rs749114363
|
0.00003
|
|
NM_014967.5(FAN1):c.2264del (p.Glu755fs)
|
rs756840415
|
0.00003
|
|
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs)
|
rs776470487
|
0.00003
|
|
NM_015047.3(EMC1):c.1806T>G (p.Tyr602Ter)
|
rs372717647
|
0.00003
|
|
NM_015072.5(TTLL5):c.2132_2135dup (p.Met712fs)
|
rs781415819
|
0.00003
|
|
NM_015102.5(NPHP4):c.2611+1G>A
|
rs374141736
|
0.00003
|
|
NM_015166.4(MLC1):c.423+1G>A
|
rs752428321
|
0.00003
|
|
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter)
|
rs1057519563
|
0.00003
|
|
NM_015340.4(LARS2):c.189G>A (p.Trp63Ter)
|
rs1213550131
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter)
|
rs118204049
|
0.00003
|
|
NM_015450.3(POT1):c.1071dup (p.Gln358fs)
|
rs750470470
|
0.00003
|
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
|
NM_015599.3(PGM3):c.-2-194C>T
|
rs753019951
|
0.00003
|
|
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter)
|
rs754637718
|
0.00003
|
|
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala)
|
rs1360128571
|
0.00003
|
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00003
|
|
NM_015713.5(RRM2B):c.329G>A (p.Arg110His)
|
rs267607025
|
0.00003
|
|
NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp)
|
rs897487519
|
0.00003
|
|
NM_016034.5(MRPS2):c.413G>A (p.Arg138His)
|
rs758539748
|
0.00003
|
|
NM_016111.4(TELO2):c.1207C>T (p.Arg403Ter)
|
rs572431474
|
0.00003
|
|
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter)
|
rs771720649
|
0.00003
|
|
NM_016343.4(CENPF):c.7219C>T (p.Arg2407Ter)
|
rs376076886
|
0.00003
|
|
NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter)
|
rs370283860
|
0.00003
|
|
NM_017433.5(MYO3A):c.315del (p.Gly106fs)
|
rs777580042
|
0.00003
|
|
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter)
|
rs750232956
|
0.00003
|
|
NM_017547.4(FOXRED1):c.733+1G>A
|
rs754952690
|
0.00003
|
|
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
|
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)
|
rs193919336
|
0.00003
|
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
|
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln)
|
rs773173317
|
0.00003
|
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
|
NM_018075.5(ANO10):c.139+1G>T
|
rs777450156
|
0.00003
|
|
NM_018075.5(ANO10):c.337+1G>A
|
rs765592794
|
0.00003
|
|
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter)
|
rs201213030
|
0.00003
|
|
NM_018116.4(MSTO1):c.887_888del (p.Leu296fs)
|
rs752022363
|
0.00003
|
|
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)
|
rs375700548
|
0.00003
|
|
NM_018129.4(PNPO):c.482G>A (p.Arg161His)
|
rs770981773
|
0.00003
|
|
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter)
|
rs776248931
|
0.00003
|
|
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)
|
rs773450573
|
0.00003
|
|
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter)
|
rs368115694
|
0.00003
|
|
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter)
|
rs377600857
|
0.00003
|
|
NM_018192.4(P3H2):c.1387C>T (p.Gln463Ter)
|
rs1440913446
|
0.00003
|
|
NM_018344.6(SLC29A3):c.400C>T (p.Arg134Cys)
|
rs1430557607
|
0.00003
|
|
NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu)
|
rs758201217
|
0.00003
|
|
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)
|
rs142500730
|
0.00003
|
|
NM_018451.5(CPAP):c.2704C>T (p.Arg902Ter)
|
rs374057641
|
0.00003
|
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
|
NM_018972.4(GDAP1):c.501del (p.Glu168fs)
|
rs886041386
|
0.00003
|
|
NM_018993.4(RIN2):c.40C>T (p.Arg14Ter)
|
rs777979761
|
0.00003
|
|
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)
|
rs267606739
|
0.00003
|
|
NM_019109.5(ALG1):c.304C>T (p.Gln102Ter)
|
rs780107088
|
0.00003
|
|
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)
|
rs151173406
|
0.00003
|
|
NM_019616.4(F7):c.739+1G>A
|
rs779658565
|
0.00003
|
|
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)
|
rs121918129
|
0.00003
|
|
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp)
|
rs121908321
|
0.00003
|
|
NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg)
|
rs863225072
|
0.00003
|
|
NM_020166.5(MCCC1):c.684dup (p.Glu229fs)
|
rs773583869
|
0.00003
|
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
|
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)
|
rs772887102
|
0.00003
|
|
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)
|
rs775935766
|
0.00003
|
|
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys)
|
rs147914967
|
0.00003
|
|
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
|
rs770253928
|
0.00003
|
|
NM_020461.4(TUBGCP6):c.2066-6A>G
|
rs368765755
|
0.00003
|
|
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)
|
rs121908373
|
0.00003
|
|
NM_020533.3(MCOLN1):c.920del (p.Leu307fs)
|
rs755042147
|
0.00003
|
|
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)
|
rs769234940
|
0.00003
|
|
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)
|
rs772217003
|
0.00003
|
|
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter)
|
rs193922703
|
0.00003
|
|
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)
|
rs200649783
|
0.00003
|
|
NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter)
|
rs751954386
|
0.00003
|
|
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp)
|
rs398123012
|
0.00003
|
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
|
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)
|
rs587778659
|
0.00003
|
|
NM_021222.3(PRUNE1):c.196C>T (p.Arg66Ter)
|
rs137929776
|
0.00003
|
|
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln)
|
rs767769359
|
0.00003
|
|
NM_021254.4(CFAP298):c.735C>G (p.Tyr245Ter)
|
rs202094637
|
0.00003
|
|
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile)
|
rs202013297
|
0.00003
|
|
NM_022095.4(ZNF335):c.1505A>G (p.Tyr502Cys)
|
rs753888773
|
0.00003
|
|
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn)
|
rs1318444606
|
0.00003
|
|
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)
|
rs752866557
|
0.00003
|
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00003
|
|
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)
|
rs547662164
|
0.00003
|
|
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)
|
rs376048533
|
0.00003
|
|
NM_022356.4(P3H1):c.2055+18G>A
|
rs137853890
|
0.00003
|
|
NM_022370.4(ROBO3):c.955G>A (p.Glu319Lys)
|
rs121918274
|
0.00003
|
|
NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln)
|
rs536081800
|
0.00003
|
|
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
|
rs767943814
|
0.00003
|
|
NM_022552.5(DNMT3A):c.1904G>A (p.Arg635Gln)
|
rs751562376
|
0.00003
|
|
NM_022773.4(LMF1):c.895C>T (p.Gln299Ter)
|
rs554054538
|
0.00003
|
|
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)
|
rs762811727
|
0.00003
|
|
NM_024079.5(ALG8):c.685C>T (p.Arg229Ter)
|
rs533704173
|
0.00003
|
|
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)
|
rs773224617
|
0.00003
|
|
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)
|
rs145476705
|
0.00003
|
|
NM_024514.5(CYP2R1):c.433C>T (p.Arg145Ter)
|
rs576642411
|
0.00003
|
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
|
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=)
|
rs776221160
|
0.00003
|
|
NM_024589.3(ROGDI):c.334C>T (p.Gln112Ter)
|
rs372097881
|
0.00003
|
|
NM_024589.3(ROGDI):c.531+5G>C
|
rs749657986
|
0.00003
|
|
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)
|
rs200116631
|
0.00003
|
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
|
NM_024649.5(BBS1):c.724-1G>C
|
rs748523268
|
0.00003
|
|
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)
|
rs995629797
|
0.00003
|
|
NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr)
|
rs373273223
|
0.00003
|
|
NM_024753.5(TTC21B):c.2758-2A>G
|
rs766132877
|
0.00003
|
|
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln)
|
rs541171482
|
0.00003
|
|
NM_025009.5(CEP135):c.727C>T (p.Arg243Ter)
|
rs200221082
|
0.00003
|
|
NM_025074.7(FRAS1):c.11298+1G>A
|
rs371268544
|
0.00003
|
|
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr)
|
rs148067486
|
0.00003
|
|
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)
|
rs761922947
|
0.00003
|
|
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)
|
rs370119681
|
0.00003
|
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
|
NM_025132.4(WDR19):c.3565+1G>A
|
rs587777352
|
0.00003
|
|
NM_025137.4(SPG11):c.2834+1G>T
|
rs312262749
|
0.00003
|
|
NM_025150.5(TARS2):c.1285C>T (p.Arg429Ter)
|
rs1382181446
|
0.00003
|
|
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr)
|
rs397515440
|
0.00003
|
|
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)
|
rs104894371
|
0.00003
|
|
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter)
|
rs373198092
|
0.00003
|
|
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)
|
rs121918555
|
0.00003
|
|
NM_030777.4(SLC2A10):c.314G>A (p.Arg105His)
|
rs753280877
|
0.00003
|
|
NM_031448.6(C19orf12):c.-2C>T
|
rs397514477
|
0.00003
|
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
|
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)
|
rs121908179
|
0.00003
|
|
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)
|
rs376306240
|
0.00003
|
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
|
NM_031924.8(RSPH3):c.859+1G>T
|
rs758891825
|
0.00003
|
|
NM_032043.3(BRIP1):c.2492+2dup
|
rs587780240
|
0.00003
|
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
|
NM_032119.4(ADGRV1):c.16225C>T (p.Arg5409Ter)
|
rs199806093
|
0.00003
|
|
NM_032383.5(HPS3):c.1588C>T (p.Arg530Ter)
|
rs755841847
|
0.00003
|
|
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)
|
rs200079039
|
0.00003
|
|
NM_032409.3(PINK1):c.938C>T (p.Thr313Met)
|
rs74315359
|
0.00003
|
|
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs)
|
rs748930384
|
0.00003
|
|
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)
|
rs587777727
|
0.00003
|
|
NM_032608.7(MYO18B):c.5197C>T (p.Gln1733Ter)
|
rs775126785
|
0.00003
|
|
NM_032756.4(HPDL):c.3G>C (p.Met1Ile)
|
rs777607274
|
0.00003
|
|
NM_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs)
|
rs747569790
|
0.00003
|
|
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter)
|
rs1220930025
|
0.00003
|
|
NM_032898.5(CEP19):c.232C>T (p.Arg78Ter)
|
rs587777230
|
0.00003
|
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
|
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs)
|
rs774056663
|
0.00003
|
|
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)
|
rs951347128
|
0.00003
|
|
NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)
|
rs919186738
|
0.00003
|
|
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter)
|
rs199807227
|
0.00003
|
|
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg)
|
rs2067110688
|
0.00003
|
|
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser)
|
rs779748859
|
0.00003
|
|
NM_052844.4(DYNC2I2):c.1372+1G>A
|
rs371069043
|
0.00003
|
|
NM_052988.5(CDK10):c.609-1G>A
|
rs767176610
|
0.00003
|
|
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)
|
rs756859126
|
0.00003
|
|
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)
|
rs777828000
|
0.00003
|
|
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
|
rs121908639
|
0.00003
|
|
NM_058216.3(RAD51C):c.571+5G>A
|
rs145779113
|
0.00003
|
|
NM_080916.3(DGUOK):c.444-11C>G
|
rs536746349
|
0.00003
|
|
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter)
|
rs796052086
|
0.00003
|
|
NM_138413.4(HOGA1):c.812G>A (p.Arg271His)
|
rs750974539
|
0.00003
|
|
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)
|
rs587776954
|
0.00003
|
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
|
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)
|
rs137852948
|
0.00003
|
|
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)
|
rs376040501
|
0.00003
|
|
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)
|
rs754626014
|
0.00003
|
|
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)
|
rs779050294
|
0.00003
|
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00003
|
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00003
|
|
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)
|
rs142107837
|
0.00003
|
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00003
|
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
|
NM_138694.4(PKHD1):c.6046A>T (p.Ser2016Cys)
|
rs1413693039
|
0.00003
|
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00003
|
|
NM_138694.4(PKHD1):c.9338del (p.Ser3113fs)
|
rs1388716999
|
0.00003
|
|
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln)
|
rs770494581
|
0.00003
|
|
NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His)
|
rs121908471
|
0.00003
|
|
NM_139242.4(MTFMT):c.1A>C (p.Met1Leu)
|
rs769064443
|
0.00003
|
|
NM_139248.3(LIPH):c.742C>A (p.His248Asn)
|
rs201868115
|
0.00003
|
|
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter)
|
rs374913800
|
0.00003
|
|
NM_144672.4(OTOA):c.92-1G>T
|
rs376382794
|
0.00003
|
|
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)
|
rs137852924
|
0.00003
|
|
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter)
|
rs965707319
|
0.00003
|
|
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter)
|
rs748820015
|
0.00003
|
|
NM_147127.5(EVC2):c.3659+2T>C
|
rs200300612
|
0.00003
|
|
NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr)
|
rs770729222
|
0.00003
|
|
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)
|
rs118203979
|
0.00003
|
|
NM_152305.3(POGLUT1):c.814C>T (p.Arg272Ter)
|
rs747897279
|
0.00003
|
|
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)
|
rs140614802
|
0.00003
|
|
NM_152328.5(ADSS1):c.967C>T (p.Gln323Ter)
|
rs756832498
|
0.00003
|
|
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)
|
rs201732170
|
0.00003
|
|
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro)
|
rs201088736
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)
|
rs766835582
|
0.00003
|
|
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)
|
rs761231974
|
0.00003
|
|
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)
|
rs766631462
|
0.00003
|
|
NM_152443.3(RDH12):c.697G>C (p.Val233Leu)
|
rs140257538
|
0.00003
|
|
NM_152618.3(BBS12):c.1574G>A (p.Arg525His)
|
rs776730549
|
0.00003
|
|
NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter)
|
rs759216914
|
0.00003
|
|
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
|
rs113994140
|
0.00003
|
|
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)
|
rs148670389
|
0.00003
|
|
NM_153700.2(STRC):c.4701+1G>A
|
rs199839039
|
0.00003
|
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00003
|
|
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)
|
rs747025617
|
0.00003
|
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
|
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter)
|
rs765269619
|
0.00003
|
|
NM_153717.3(EVC):c.175-2A>G
|
rs767186464
|
0.00003
|
|
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
|
NM_153766.3(KCNJ1):c.89G>A (p.Cys30Tyr)
|
rs764078087
|
0.00003
|
|
NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter)
|
rs377205432
|
0.00003
|
|
NM_172250.3(MMAA):c.658G>A (p.Val220Met)
|
rs150376474
|
0.00003
|
|
NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser)
|
rs28940568
|
0.00003
|
|
NM_173551.5(ANKS6):c.1973-3C>G
|
rs397514257
|
0.00003
|
|
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)
|
rs374603772
|
0.00003
|
|
NM_176787.5(PIGN):c.1251+1G>A
|
rs1462805697
|
0.00003
|
|
NM_176824.3(BBS7):c.688T>C (p.Trp230Arg)
|
rs1173134997
|
0.00003
|
|
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)
|
rs773770609
|
0.00003
|
|
NM_177924.5(ASAH1):c.147G>A (p.Trp49Ter)
|
rs369707059
|
0.00003
|
|
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys)
|
rs543697946
|
0.00003
|
|
NM_177986.5(DSG4):c.865C>T (p.Arg289Ter)
|
rs267606777
|
0.00003
|
|
NM_182760.4(SUMF1):c.602+1G>A
|
rs143616931
|
0.00003
|
|
NM_182760.4(SUMF1):c.817G>A (p.Asp273Asn)
|
rs769349880
|
0.00003
|
|
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)
|
rs199931785
|
0.00003
|
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
|
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)
|
rs141431913
|
0.00003
|
|
NM_194292.3(SASS6):c.127-13A>G
|
rs1406541512
|
0.00003
|
|
NM_198129.4(LAMA3):c.8708+1G>A
|
rs754558574
|
0.00003
|
|
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)
|
rs121908901
|
0.00003
|
|
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)
|
rs137852856
|
0.00003
|
|
NM_198525.3(KIF7):c.61C>T (p.Arg21Ter)
|
rs794727316
|
0.00003
|
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
|
NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter)
|
rs1409490389
|
0.00003
|
|
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)
|
rs375040930
|
0.00003
|
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
|
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp)
|
rs121908464
|
0.00003
|
|
NM_201548.5(CERKL):c.222del (p.Gln74fs)
|
rs1476585944
|
0.00003
|
|
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn)
|
rs606231276
|
0.00003
|
|
NM_206926.2(SELENON):c.700C>T (p.Arg234Cys)
|
rs368074297
|
0.00003
|
|
NM_206926.2(SELENON):c.908+1G>A
|
rs908682527
|
0.00003
|
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
|
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)
|
rs780893919
|
0.00003
|
|
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)
|
rs750396156
|
0.00003
|
|
NM_206933.4(USH2A):c.15297+1G>C
|
rs767630412
|
0.00003
|
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
|
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)
|
rs766590491
|
0.00003
|
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00003
|
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
|
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter)
|
rs373938258
|
0.00003
|
|
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
|
rs765648513
|
0.00003
|
|
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)
|
rs143604970
|
0.00003
|
|
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His)
|
rs199476203
|
0.00003
|
|
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His)
|
rs119103284
|
0.00003
|
|
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn)
|
rs550855238
|
0.00003
|
|
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)
|
rs566415362
|
0.00003
|
|
NM_213622.4(STAMBP):c.418C>T (p.Gln140Ter)
|
rs1401253918
|
0.00003
|
|
NM_213653.4(HJV):c.665T>A (p.Ile222Asn)
|
rs74315325
|
0.00003
|
|
NC_000019.10:g.11089410C>G
|
rs879254371
|
0.00002
|
|
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)
|
rs139686925
|
0.00002
|
|
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
|
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)
|
rs398123072
|
0.00002
|
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
|
NM_000016.6(ACADM):c.234T>G (p.Ile78Met)
|
rs1158457053
|
0.00002
|
|
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly)
|
rs758476299
|
0.00002
|
|
NM_000016.6(ACADM):c.617G>A (p.Arg206His)
|
rs200724875
|
0.00002
|
|
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly)
|
rs764268346
|
0.00002
|
|
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)
|
rs758111285
|
0.00002
|
|
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)
|
rs768884003
|
0.00002
|
|
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)
|
rs779759347
|
0.00002
|
|
NM_000016.6(ACADM):c.946-6T>G
|
rs765793260
|
0.00002
|
|
NM_000016.6(ACADM):c.984del (p.Met328fs)
|
rs747610156
|
0.00002
|
|
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu)
|
rs183161718
|
0.00002
|
|
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)
|
rs147442301
|
0.00002
|
|
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu)
|
rs1356652354
|
0.00002
|
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
|
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)
|
rs138058572
|
0.00002
|
|
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys)
|
rs794727111
|
0.00002
|
|
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)
|
rs786204536
|
0.00002
|
|
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)
|
rs1231343685
|
0.00002
|
|
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)
|
rs766192888
|
0.00002
|
|
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)
|
rs373771053
|
0.00002
|
|
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
|
rs120074141
|
0.00002
|
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
|
NM_000022.4(ADA):c.529G>A (p.Val177Met)
|
rs121908719
|
0.00002
|
|
NM_000022.4(ADA):c.704G>A (p.Arg235Gln)
|
rs79281338
|
0.00002
|
|
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)
|
rs199422327
|
0.00002
|
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
|
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)
|
rs756210458
|
0.00002
|
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
|
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)
|
rs180177157
|
0.00002
|
|
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)
|
rs121908522
|
0.00002
|
|
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)
|
rs180177207
|
0.00002
|
|
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)
|
rs180177238
|
0.00002
|
|
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)
|
rs180177253
|
0.00002
|
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
|
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)
|
rs369586696
|
0.00002
|
|
NM_000044.6(AR):c.2612C>T (p.Ala871Val)
|
rs143040492
|
0.00002
|
|
NM_000045.4(ARG1):c.3G>A (p.Met1Ile)
|
rs745624953
|
0.00002
|
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
|
NM_000048.4(ASL):c.1154G>A (p.Arg385His)
|
rs746120802
|
0.00002
|
|
NM_000048.4(ASL):c.338G>A (p.Arg113Gln)
|
rs752783461
|
0.00002
|
|
NM_000048.4(ASL):c.376C>T (p.Arg126Trp)
|
rs201962738
|
0.00002
|
|
NM_000048.4(ASL):c.377G>A (p.Arg126Gln)
|
rs777235530
|
0.00002
|
|
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)
|
rs1449589636
|
0.00002
|
|
NM_000048.4(ASL):c.767T>C (p.Met256Thr)
|
rs149057077
|
0.00002
|
|
NM_000049.4(ASPA):c.237-2A>T
|
rs780936696
|
0.00002
|
|
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)
|
rs761064915
|
0.00002
|
|
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser)
|
rs750505963
|
0.00002
|
|
NM_000051.4(ATM):c.1355del (p.Thr452fs)
|
rs587781776
|
0.00002
|
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
|
NM_000051.4(ATM):c.901+1G>A
|
rs748840480
|
0.00002
|
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
|
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)
|
rs1555291801
|
0.00002
|
|
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)
|
rs786204718
|
0.00002
|
|
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)
|
rs779323689
|
0.00002
|
|
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr)
|
rs1441316018
|
0.00002
|
|
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)
|
rs756029120
|
0.00002
|
|
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)
|
rs568009639
|
0.00002
|
|
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp)
|
rs749626601
|
0.00002
|
|
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter)
|
rs760485585
|
0.00002
|
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
|
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
|
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
|
rs1897349804
|
0.00002
|
|
NM_000057.4(BLM):c.670C>T (p.Gln224Ter)
|
rs918752814
|
0.00002
|
|
NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter)
|
rs876659258
|
0.00002
|
|
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)
|
rs80359066
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)
|
rs80338778
|
0.00002
|
|
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)
|
rs772226819
|
0.00002
|
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00002
|
|
NM_000070.3(CAPN3):c.1801-1G>A
|
rs886043752
|
0.00002
|
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
|
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)
|
rs758795961
|
0.00002
|
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
|
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)
|
rs778220779
|
0.00002
|
|
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)
|
rs775992753
|
0.00002
|
|
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)
|
rs121964966
|
0.00002
|
|
NM_000071.3(CBS):c.689del (p.Leu230fs)
|
rs775351239
|
0.00002
|
|
NM_000071.3(CBS):c.959T>C (p.Val320Ala)
|
rs781567152
|
0.00002
|
|
NM_000078.3(CETP):c.1321+1G>A
|
rs5742907
|
0.00002
|
|
NM_000080.4(CHRNE):c.-95G>A
|
rs990457690
|
0.00002
|
|
NM_000082.4(ERCC8):c.600dup (p.Ile201fs)
|
rs1468231556
|
0.00002
|
|
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter)
|
rs772150974
|
0.00002
|
|
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)
|
rs80356687
|
0.00002
|
|
NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg)
|
rs757109632
|
0.00002
|
|
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)
|
rs764100025
|
0.00002
|
|
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)
|
rs774396430
|
0.00002
|
|
NM_000085.5(CLCNKB):c.782-2A>G
|
rs779908241
|
0.00002
|
|
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)
|
rs749621872
|
0.00002
|
|
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)
|
rs755528878
|
0.00002
|
|
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)
|
rs1131691738
|
0.00002
|
|
NM_000091.5(COL4A3):c.1845dup (p.Pro616fs)
|
rs1478523884
|
0.00002
|
|
NM_000091.5(COL4A3):c.2535del (p.Leu846fs)
|
rs993103826
|
0.00002
|
|
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter)
|
rs1346138010
|
0.00002
|
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
|
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu)
|
rs1026613471
|
0.00002
|
|
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)
|
rs762139460
|
0.00002
|
|
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg)
|
rs937550597
|
0.00002
|
|
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg)
|
rs372606845
|
0.00002
|
|
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg)
|
rs769783985
|
0.00002
|
|
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg)
|
rs755961411
|
0.00002
|
|
NM_000092.5(COL4A4):c.735G>A (p.Pro245=)
|
rs923865420
|
0.00002
|
|
NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)
|
rs778035441
|
0.00002
|
|
NM_000094.4(COL7A1):c.7068+5G>A
|
rs779875751
|
0.00002
|
|
NM_000096.4(CP):c.1948G>A (p.Gly650Arg)
|
rs776936158
|
0.00002
|
|
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)
|
rs754386565
|
0.00002
|
|
NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter)
|
rs539239516
|
0.00002
|
|
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)
|
rs104894155
|
0.00002
|
|
NM_000107.3(DDB2):c.818G>A (p.Arg273His)
|
rs121434640
|
0.00002
|
|
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
|
rs1267571380
|
0.00002
|
|
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)
|
rs1057517511
|
0.00002
|
|
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)
|
rs104893916
|
0.00002
|
|
NM_000124.4(ERCC6):c.2287-2A>G
|
rs754978734
|
0.00002
|
|
NM_000124.4(ERCC6):c.4063-1G>C
|
rs766980240
|
0.00002
|
|
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)
|
rs199763682
|
0.00002
|
|
NM_000128.4(F11):c.1853T>G (p.Ile618Ser)
|
rs281875276
|
0.00002
|
|
NM_000128.4(F11):c.682C>T (p.Arg228Ter)
|
rs752907087
|
0.00002
|
|
NM_000128.4(F11):c.976C>T (p.Arg326Cys)
|
rs28934608
|
0.00002
|
|
NM_000130.5(F5):c.911G>A (p.Gly304Glu)
|
rs865947251
|
0.00002
|
|
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)
|
rs137852435
|
0.00002
|
|
NM_000132.4(F8):c.323A>C (p.Lys108Thr)
|
rs137852384
|
0.00002
|
|
NM_000132.4(F8):c.5123G>A (p.Arg1708His)
|
rs111033614
|
0.00002
|
|
NM_000133.4(F9):c.163T>A (p.Phe55Ile)
|
rs759987427
|
0.00002
|
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
|
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)
|
rs182657062
|
0.00002
|
|
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)
|
rs730881709
|
0.00002
|
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
|
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)
|
rs781542763
|
0.00002
|
|
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)
|
rs377294947
|
0.00002
|
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
|
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)
|
rs1297118863
|
0.00002
|
|
NM_000137.4(FAH):c.398A>T (p.His133Leu)
|
rs775152764
|
0.00002
|
|
NM_000137.4(FAH):c.696C>T (p.Asn232=)
|
rs533540262
|
0.00002
|
|
NM_000137.4(FAH):c.726G>A (p.Trp242Ter)
|
rs1567118987
|
0.00002
|
|
NM_000140.5(FECH):c.854A>G (p.Gln285Arg)
|
rs370708663
|
0.00002
|
|
NM_000146.4(FTL):c.89C>T (p.Thr30Ile)
|
rs397514540
|
0.00002
|
|
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)
|
rs1250172816
|
0.00002
|
|
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)
|
rs759982943
|
0.00002
|
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
|
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)
|
rs80356483
|
0.00002
|
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
|
NM_000152.5(GAA):c.1222A>G (p.Met408Val)
|
rs560575383
|
0.00002
|
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00002
|
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00002
|
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00002
|
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
|
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)
|
rs1567838823
|
0.00002
|
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
|
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)
|
rs766007316
|
0.00002
|
|
NM_000153.4(GALC):c.391T>C (p.Trp131Arg)
|
rs746507078
|
0.00002
|
|
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)
|
rs202131052
|
0.00002
|
|
NM_000153.4(GALC):c.674C>A (p.Ala225Glu)
|
rs373077659
|
0.00002
|
|
NM_000155.4(GALT):c.413C>T (p.Thr138Met)
|
rs111033686
|
0.00002
|
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
|
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)
|
rs774144200
|
0.00002
|
|
NM_000157.4(GBA1):c.1060G>C (p.Asp354His)
|
rs398123526
|
0.00002
|
|
NM_000157.4(GBA1):c.689T>G (p.Val230Gly)
|
rs381427
|
0.00002
|
|
NM_000158.4(GBE1):c.1468del (p.Leu490fs)
|
rs774465102
|
0.00002
|
|
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)
|
rs774619760
|
0.00002
|
|
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)
|
rs137852886
|
0.00002
|
|
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)
|
rs933624223
|
0.00002
|
|
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg)
|
rs774526353
|
0.00002
|
|
NM_000159.4(GCDH):c.553G>A (p.Gly185Arg)
|
rs576948027
|
0.00002
|
|
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)
|
rs1131692030
|
0.00002
|
|
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)
|
rs761765983
|
0.00002
|
|
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)
|
rs779315456
|
0.00002
|
|
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln)
|
rs746220312
|
0.00002
|
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00002
|
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
|
NM_000169.3(GLA):c.868A>C (p.Met290Leu)
|
rs375538532
|
0.00002
|
|
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)
|
rs751822565
|
0.00002
|
|
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu)
|
rs367987650
|
0.00002
|
|
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)
|
rs386833589
|
0.00002
|
|
NM_000178.4(GSS):c.799C>T (p.Arg267Trp)
|
rs121909308
|
0.00002
|
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
|
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln)
|
rs61750171
|
0.00002
|
|
NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter)
|
rs769818541
|
0.00002
|
|
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)
|
rs756730335
|
0.00002
|
|
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)
|
rs121918185
|
0.00002
|
|
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
|
rs774393243
|
0.00002
|
|
NM_000187.4(HGD):c.1336T>C (p.Ter446Arg)
|
rs143370662
|
0.00002
|
|
NM_000187.4(HGD):c.342+1G>T
|
rs397515518
|
0.00002
|
|
NM_000195.5(HPS1):c.1857+2T>C
|
rs374689398
|
0.00002
|
|
NM_000195.5(HPS1):c.398+2T>C
|
rs1486224265
|
0.00002
|
|
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro)
|
rs281865080
|
0.00002
|
|
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)
|
rs780239925
|
0.00002
|
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00002
|
|
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)
|
rs764057581
|
0.00002
|
|
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro)
|
rs779703983
|
0.00002
|
|
NM_000199.5(SGSH):c.250-2A>G
|
rs745319635
|
0.00002
|
|
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)
|
rs761607612
|
0.00002
|
|
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)
|
rs104894642
|
0.00002
|
|
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)
|
rs794727896
|
0.00002
|
|
NM_000203.5(IDUA):c.1727+4C>T
|
rs1202966289
|
0.00002
|
|
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)
|
rs776787370
|
0.00002
|
|
NM_000207.3(INS):c.266G>A (p.Arg89His)
|
rs28933985
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1239del (p.Lys414fs)
|
rs778786253
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
|
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)
|
rs120074178
|
0.00002
|
|
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
|
rs120074187
|
0.00002
|
|
NM_000228.3(LAMB3):c.1063T>C (p.Cys355Arg)
|
rs532875477
|
0.00002
|
|
NM_000229.2(LCAT):c.1034C>T (p.Thr345Met)
|
rs28940888
|
0.00002
|
|
NM_000231.3(SGCG):c.386-1G>A
|
rs913248720
|
0.00002
|
|
NM_000237.3(LPL):c.547G>A (p.Asp183Asn)
|
rs781614031
|
0.00002
|
|
NM_000237.3(LPL):c.755T>C (p.Ile252Thr)
|
rs118204080
|
0.00002
|
|
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)
|
rs770047651
|
0.00002
|
|
NM_000255.4(MMUT):c.1880A>G (p.His627Arg)
|
rs372486357
|
0.00002
|
|
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)
|
rs121918248
|
0.00002
|
|
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)
|
rs965316043
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3190+5G>A
|
rs587782958
|
0.00002
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
0.00002
|
|
NM_000256.3(MYBPC3):c.927-9G>A
|
rs397516083
|
0.00002
|
|
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr)
|
rs121913640
|
0.00002
|
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
|
NM_000257.4(MYH7):c.2348G>A (p.Arg783His)
|
rs397516142
|
0.00002
|
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
|
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
|
rs376897125
|
0.00002
|
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00002
|
|
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)
|
rs397516292
|
0.00002
|
|
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp)
|
rs111033233
|
0.00002
|
|
NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp)
|
rs866352637
|
0.00002
|
|
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu)
|
rs199606180
|
0.00002
|
|
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)
|
rs111033192
|
0.00002
|
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
|
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)
|
rs121965080
|
0.00002
|
|
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser)
|
rs747656448
|
0.00002
|
|
NM_000260.4(MYO7A):c.722G>A (p.Arg241His)
|
rs111033284
|
0.00002
|
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
|
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)
|
rs763299645
|
0.00002
|
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
|
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)
|
rs1346436537
|
0.00002
|
|
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu)
|
rs774333145
|
0.00002
|
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
|
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)
|
rs202140203
|
0.00002
|
|
NM_000271.5(NPC1):c.2777C>T (p.Ala926Val)
|
rs730880963
|
0.00002
|
|
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
|
rs765729815
|
0.00002
|
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
|
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)
|
rs753419933
|
0.00002
|
|
NM_000273.3(GPR143):c.360G>A (p.Ala120=)
|
rs281865178
|
0.00002
|
|
NM_000275.3(OCA2):c.1044+2T>C
|
rs1368074390
|
0.00002
|
|
NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys)
|
rs779086242
|
0.00002
|
|
NM_000275.3(OCA2):c.440dup (p.Ser148fs)
|
rs1057518192
|
0.00002
|
|
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu)
|
rs745573222
|
0.00002
|
|
NM_000277.3(PAH):c.1066-3C>T
|
rs62507344
|
0.00002
|
|
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)
|
rs773526027
|
0.00002
|
|
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)
|
rs62514902
|
0.00002
|
|
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)
|
rs62508682
|
0.00002
|
|
NM_000277.3(PAH):c.581T>C (p.Leu194Pro)
|
rs5030844
|
0.00002
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
0.00002
|
|
NM_000277.3(PAH):c.806del (p.Ile269fs)
|
rs62508687
|
0.00002
|
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00002
|
|
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)
|
rs104894177
|
0.00002
|
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
|
NM_000283.4(PDE6B):c.1655G>A (p.Arg552Gln)
|
rs751859807
|
0.00002
|
|
NM_000285.4(PEPD):c.833G>A (p.Gly278Asp)
|
rs121917723
|
0.00002
|
|
NM_000287.4(PEX6):c.1962-1G>A
|
rs267608229
|
0.00002
|
|
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr)
|
rs374549180
|
0.00002
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
0.00002
|
|
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg)
|
rs918627824
|
0.00002
|
|
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)
|
rs1555448899
|
0.00002
|
|
NM_000303.3(PMM2):c.255+1G>A
|
rs1060499598
|
0.00002
|
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
|
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)
|
rs532870929
|
0.00002
|
|
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val)
|
rs137854540
|
0.00002
|
|
NM_000308.4(CTSA):c.843T>A (p.Cys281Ter)
|
rs771878314
|
0.00002
|
|
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)
|
rs386833640
|
0.00002
|
|
NM_000312.4(PROC):c.169C>T (p.Arg57Trp)
|
rs757583846
|
0.00002
|
|
NM_000312.4(PROC):c.811C>T (p.Arg271Trp)
|
rs767112991
|
0.00002
|
|
NM_000312.4(PROC):c.925G>A (p.Ala309Thr)
|
rs121918146
|
0.00002
|
|
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala)
|
rs766423432
|
0.00002
|
|
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)
|
rs6122
|
0.00002
|
|
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
|
rs778932353
|
0.00002
|
|
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
|
rs1040441824
|
0.00002
|
|
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)
|
rs779681799
|
0.00002
|
|
NM_000317.3(PTS):c.84-3C>G
|
rs1230781262
|
0.00002
|
|
NM_000320.3(QDPR):c.1A>T (p.Met1Leu)
|
rs1034528249
|
0.00002
|
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
|
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)
|
rs61755771
|
0.00002
|
|
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile)
|
rs753657349
|
0.00002
|
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
|
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)
|
rs61752896
|
0.00002
|
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
|
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)
|
rs377176361
|
0.00002
|
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
|
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00002
|
|
NM_000335.5(SCN5A):c.612-2A>G
|
rs370438420
|
0.00002
|
|
NM_000336.3(SCNN1B):c.1542+1G>A
|
rs550424284
|
0.00002
|
|
NM_000341.4(SLC3A1):c.1011G>A (p.Pro337=)
|
rs772810111
|
0.00002
|
|
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp)
|
rs121434246
|
0.00002
|
|
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser)
|
rs9332961
|
0.00002
|
|
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg)
|
rs748899308
|
0.00002
|
|
NM_000349.3(STAR):c.814C>T (p.Arg272Cys)
|
rs751759820
|
0.00002
|
|
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)
|
rs55732384
|
0.00002
|
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
|
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)
|
rs61749446
|
0.00002
|
|
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)
|
rs61751399
|
0.00002
|
|
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)
|
rs61751403
|
0.00002
|
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
0.00002
|
|
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)
|
rs764349043
|
0.00002
|
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
|
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser)
|
rs781090024
|
0.00002
|
|
NM_000352.6(ABCC8):c.4308-2A>G
|
rs886041391
|
0.00002
|
|
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs)
|
rs398122905
|
0.00002
|
|
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg)
|
rs121918725
|
0.00002
|
|
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln)
|
rs121918727
|
0.00002
|
|
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp)
|
rs771820315
|
0.00002
|
|
NM_000360.4(TH):c.1189G>A (p.Gly397Arg)
|
rs1264884607
|
0.00002
|
|
NM_000360.4(TH):c.1388C>T (p.Thr463Met)
|
rs45471299
|
0.00002
|
|
NM_000360.4(TH):c.292C>T (p.Arg98Ter)
|
rs1057519220
|
0.00002
|
|
NM_000360.4(TH):c.364C>T (p.Arg122Ter)
|
rs771610752
|
0.00002
|
|
NM_000372.5(TYR):c.1366+1G>T
|
rs369610829
|
0.00002
|
|
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)
|
rs28940877
|
0.00002
|
|
NM_000372.5(TYR):c.658C>T (p.Gln220Ter)
|
rs797046083
|
0.00002
|
|
NM_000380.4(XPA):c.555G>C (p.Gln185His)
|
rs746617574
|
0.00002
|
|
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)
|
rs72547573
|
0.00002
|
|
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His)
|
rs866392702
|
0.00002
|
|
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)
|
rs72547568
|
0.00002
|
|
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)
|
rs179363889
|
0.00002
|
|
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)
|
rs140630532
|
0.00002
|
|
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter)
|
rs755490967
|
0.00002
|
|
NM_000392.5(ABCC2):c.3463del (p.Thr1155fs)
|
rs919078015
|
0.00002
|
|
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp)
|
rs121965016
|
0.00002
|
|
NM_000400.4(ERCC2):c.1479+2dup
|
rs776705174
|
0.00002
|
|
NM_000400.4(ERCC2):c.1666-2A>T
|
rs199658345
|
0.00002
|
|
NM_000402.4(G6PD):c.944G>A (p.Arg315His)
|
rs74575103
|
0.00002
|
|
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)
|
rs780724173
|
0.00002
|
|
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
|
rs72555368
|
0.00002
|
|
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)
|
rs756878418
|
0.00002
|
|
NM_000404.4(GLB1):c.841C>T (p.His281Tyr)
|
rs745386663
|
0.00002
|
|
NM_000410.4(HFE):c.546_547del (p.Leu183fs)
|
rs765804978
|
0.00002
|
|
NM_000410.4(HFE):c.548T>C (p.Leu183Pro)
|
rs199916850
|
0.00002
|
|
NM_000410.4(HFE):c.892G>T (p.Glu298Ter)
|
rs749553271
|
0.00002
|
|
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)
|
rs773305477
|
0.00002
|
|
NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr)
|
rs104893973
|
0.00002
|
|
NM_000426.4(LAMA2):c.283+1G>A
|
rs200288072
|
0.00002
|
|
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)
|
rs369776766
|
0.00002
|
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
|
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)
|
rs749566145
|
0.00002
|
|
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs)
|
rs1293303410
|
0.00002
|
|
NM_000431.4(MVK):c.830G>A (p.Arg277His)
|
rs104895352
|
0.00002
|
|
NM_000434.4(NEU1):c.727G>A (p.Gly243Arg)
|
rs104893983
|
0.00002
|
|
NM_000434.4(NEU1):c.893C>T (p.Ala298Val)
|
rs104893981
|
0.00002
|
|
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)
|
rs769773673
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)
|
rs747076316
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)
|
rs111033254
|
0.00002
|
|
NM_000441.2(SLC26A4):c.165-1G>A
|
rs759792660
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)
|
rs763006761
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)
|
rs368119540
|
0.00002
|
|
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn)
|
rs994170964
|
0.00002
|
|
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)
|
rs760040670
|
0.00002
|
|
NM_000441.2(SLC26A4):c.55del (p.Ser19fs)
|
rs1057516634
|
0.00002
|
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
0.00002
|
|
NM_000443.4(ABCB4):c.2211+1G>A
|
rs794727183
|
0.00002
|
|
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)
|
rs754287486
|
0.00002
|
|
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)
|
rs199474676
|
0.00002
|
|
NM_000448.3(RAG1):c.2488A>T (p.Lys830Ter)
|
rs755551812
|
0.00002
|
|
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe)
|
rs149229197
|
0.00002
|
|
NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg)
|
rs121909180
|
0.00002
|
|
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp)
|
rs72551343
|
0.00002
|
|
NM_000466.3(PEX1):c.130-1G>T
|
rs1028247729
|
0.00002
|
|
NM_000466.3(PEX1):c.2730del (p.Leu910fs)
|
rs61750423
|
0.00002
|
|
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)
|
rs766020928
|
0.00002
|
|
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
|
rs749067142
|
0.00002
|
|
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys)
|
rs138690664
|
0.00002
|
|
NM_000478.6(ALPL):c.283G>A (p.Val95Met)
|
rs139811782
|
0.00002
|
|
NM_000478.6(ALPL):c.657G>T (p.Met219Ile)
|
rs776117933
|
0.00002
|
|
NM_000478.6(ALPL):c.815G>A (p.Arg272His)
|
rs781272386
|
0.00002
|
|
NM_000479.5(AMH):c.1165G>T (p.Glu389Ter)
|
rs1415701260
|
0.00002
|
|
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)
|
rs121964986
|
0.00002
|
|
NM_000481.4(AMT):c.794G>A (p.Arg265His)
|
rs757918826
|
0.00002
|
|
NM_000485.3(APRT):c.81-3C>G
|
rs761838152
|
0.00002
|
|
NM_000486.6(AQP2):c.374C>T (p.Thr125Met)
|
rs104894333
|
0.00002
|
|
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer)
|
rs755635209
|
0.00002
|
|
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser)
|
rs199476380
|
0.00002
|
|
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)
|
rs6151411
|
0.00002
|
|
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)
|
rs761860059
|
0.00002
|
|
NM_000487.6(ARSA):c.907G>A (p.Gly303Arg)
|
rs1276584787
|
0.00002
|
|
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)
|
rs199476382
|
0.00002
|
|
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)
|
rs1375757476
|
0.00002
|
|
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)
|
rs148092995
|
0.00002
|
|
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)
|
rs398123419
|
0.00002
|
|
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)
|
rs139573311
|
0.00002
|
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
|
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
|
rs144055758
|
0.00002
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
0.00002
|
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
|
NM_000492.4(CFTR):c.490-1G>A
|
rs397508734
|
0.00002
|
|
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)
|
rs28934586
|
0.00002
|
|
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)
|
rs149881706
|
0.00002
|
|
NM_000498.3(CYP11B2):c.954G>A (p.Thr318=)
|
rs760329766
|
0.00002
|
|
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn)
|
rs758609113
|
0.00002
|
|
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)
|
rs118204447
|
0.00002
|
|
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)
|
rs371429653
|
0.00002
|
|
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
|
rs559063128
|
0.00002
|
|
NM_000512.5(GALNS):c.651_652insG (p.Lys218fs)
|
rs1468285336
|
0.00002
|
|
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)
|
rs118204442
|
0.00002
|
|
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)
|
rs118204446
|
0.00002
|
|
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)
|
rs894525161
|
0.00002
|
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
|
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)
|
rs41417548
|
0.00002
|
|
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter)
|
rs281864550
|
0.00002
|
|
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)
|
rs35424040
|
0.00002
|
|
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)
|
rs121907955
|
0.00002
|
|
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)
|
rs121907953
|
0.00002
|
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00002
|
|
NM_000521.4(HEXB):c.1417+5G>A
|
rs763517499
|
0.00002
|
|
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp)
|
rs751592419
|
0.00002
|
|
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg)
|
rs398123448
|
0.00002
|
|
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr)
|
rs779453450
|
0.00002
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
rs397509365
|
0.00002
|
|
NM_000527.5(LDLR):c.-153C>T
|
rs879254366
|
0.00002
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
rs730882096
|
0.00002
|
|
NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg)
|
rs746982741
|
0.00002
|
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
rs765696008
|
0.00002
|
|
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val)
|
rs875989924
|
0.00002
|
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
rs373371572
|
0.00002
|
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00002
|
|
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
|
rs150021927
|
0.00002
|
|
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
|
rs1135402783
|
0.00002
|
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
|
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)
|
rs730882082
|
0.00002
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
rs121908039
|
0.00002
|
|
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)
|
rs746834464
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1528-1G>A
|
rs561991886
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1929-1G>T
|
rs763100457
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
|
rs121434331
|
0.00002
|
|
NM_000529.2(MC2R):c.634del (p.Arg212fs)
|
rs1226345778
|
0.00002
|
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
|
NM_000536.4(RAG2):c.218G>A (p.Arg73His)
|
rs762407838
|
0.00002
|
|
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter)
|
rs1313207845
|
0.00002
|
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
|
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)
|
rs193922764
|
0.00002
|
|
NM_000540.3(RYR1):c.14173-2A>G
|
rs1189024951
|
0.00002
|
|
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)
|
rs193922875
|
0.00002
|
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
|
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)
|
rs769744438
|
0.00002
|
|
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs)
|
rs759632485
|
0.00002
|
|
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val)
|
rs193922791
|
0.00002
|
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
|
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)
|
rs201550531
|
0.00002
|
|
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)
|
rs372287825
|
0.00002
|
|
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)
|
rs753508874
|
0.00002
|
|
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)
|
rs769904764
|
0.00002
|
|
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)
|
rs138729528
|
0.00002
|
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
|
NM_000550.3(TYRP1):c.643C>T (p.His215Tyr)
|
rs1160525621
|
0.00002
|
|
NM_000551.4(VHL):c.376G>A (p.Asp126Asn)
|
rs104893831
|
0.00002
|
|
NM_000553.6(WRN):c.1578del (p.Leu528fs)
|
rs780555196
|
0.00002
|
|
NM_000553.6(WRN):c.210-1G>A
|
rs758988621
|
0.00002
|
|
NM_000553.6(WRN):c.329dup (p.Tyr110Ter)
|
rs766733097
|
0.00002
|
|
NM_000554.6(CRX):c.206G>A (p.Arg69His)
|
rs775073228
|
0.00002
|
|
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)
|
rs104894673
|
0.00002
|
|
NM_000631.5(NCF4):c.529-2A>T
|
rs199890705
|
0.00002
|
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
|
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
|
rs1286364615
|
0.00002
|
|
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp)
|
rs121912699
|
0.00002
|
|
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)
|
rs942815730
|
0.00002
|
|
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)
|
rs375785084
|
0.00002
|
|
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)
|
rs145901144
|
0.00002
|
|
NM_000784.4(CYP27A1):c.1476+2T>A
|
rs1165952837
|
0.00002
|
|
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys)
|
rs767480544
|
0.00002
|
|
NM_000787.4(DBH):c.1499del (p.Leu500fs)
|
rs757399972
|
0.00002
|
|
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)
|
rs199983136
|
0.00002
|
|
NM_000942.5(PPIB):c.344-1G>T
|
rs748284900
|
0.00002
|
|
NM_001002294.3(FMO3):c.1498C>T (p.Arg500Ter)
|
rs765373503
|
0.00002
|
|
NM_001003722.2(GLE1):c.1750C>T (p.Arg584Trp)
|
rs765269946
|
0.00002
|
|
NM_001003722.2(GLE1):c.2028+1G>A
|
rs775658412
|
0.00002
|
|
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)
|
rs767987619
|
0.00002
|
|
NM_001005373.4(LRSAM1):c.448C>T (p.Arg150Ter)
|
rs749850642
|
0.00002
|
|
NM_001005373.4(LRSAM1):c.517C>T (p.Arg173Ter)
|
rs746159728
|
0.00002
|
|
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)
|
rs780517804
|
0.00002
|
|
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)
|
rs773204795
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter)
|
rs118204043
|
0.00002
|
|
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)
|
rs104894187
|
0.00002
|
|
NM_001015880.2(PAPSS2):c.640-1G>C
|
rs981095457
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)
|
rs771869385
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
0.00002
|
|
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)
|
rs121917787
|
0.00002
|
|
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)
|
rs369937337
|
0.00002
|
|
NM_001032386.2(SUOX):c.1096C>T (p.Arg366Cys)
|
rs760901724
|
0.00002
|
|
NM_001032386.2(SUOX):c.228+1G>A
|
rs773655286
|
0.00002
|
|
NM_001034116.2(EIF2B4):c.1070G>A (p.Arg357Gln)
|
rs113994033
|
0.00002
|
|
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)
|
rs113994028
|
0.00002
|
|
NM_001037.5(SCN1B):c.254G>A (p.Arg85His)
|
rs16969925
|
0.00002
|
|
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)
|
rs149644940
|
0.00002
|
|
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)
|
rs386833695
|
0.00002
|
|
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)
|
rs386833697
|
0.00002
|
|
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
|
rs765893479
|
0.00002
|
|
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)
|
rs762307622
|
0.00002
|
|
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)
|
rs587782885
|
0.00002
|
|
NM_001077365.2(POMT1):c.1698+1G>A
|
rs763586263
|
0.00002
|
|
NM_001077418.3(TMEM231):c.284del (p.Asp95fs)
|
rs750897443
|
0.00002
|
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.691G>A (p.Glu231Lys)
|
rs751888532
|
0.00002
|
|
NM_001080467.3(MYO5B):c.1347del (p.Phe450fs)
|
rs1298330895
|
0.00002
|
|
NM_001082971.2(DDC):c.1234C>T (p.Arg412Trp)
|
rs542063660
|
0.00002
|
|
NM_001082971.2(DDC):c.206C>T (p.Thr69Met)
|
rs777956037
|
0.00002
|
|
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu)
|
rs746244631
|
0.00002
|
|
NM_001083961.2(WDR62):c.3514+1G>A
|
rs199736219
|
0.00002
|
|
NM_001089.3(ABCA3):c.128G>A (p.Arg43His)
|
rs754714105
|
0.00002
|
|
NM_001089.3(ABCA3):c.1474dup (p.Tyr492fs)
|
rs756855585
|
0.00002
|
|
NM_001097577.3(ANG):c.407C>T (p.Pro136Leu)
|
rs121909543
|
0.00002
|
|
NM_001100.4(ACTA1):c.990+1G>T
|
rs372686280
|
0.00002
|
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
|
NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val)
|
rs1280772093
|
0.00002
|
|
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)
|
rs775931992
|
0.00002
|
|
NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val)
|
rs748920885
|
0.00002
|
|
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer)
|
rs771819481
|
0.00002
|
|
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter)
|
rs199775294
|
0.00002
|
|
NM_001128126.3(AP4S1):c.295-3C>A
|
rs185246578
|
0.00002
|
|
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp)
|
rs121434363
|
0.00002
|
|
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter)
|
rs777647845
|
0.00002
|
|
NM_001130987.2(DYSF):c.1149+1G>A
|
rs398123763
|
0.00002
|
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
|
NM_001130987.2(DYSF):c.3170G>A (p.Arg1057Gln)
|
rs149617331
|
0.00002
|
|
NM_001130987.2(DYSF):c.3403-2A>G
|
rs370874727
|
0.00002
|
|
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)
|
rs757917335
|
0.00002
|
|
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)
|
rs398123807
|
0.00002
|
|
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs)
|
rs1445681647
|
0.00002
|
|
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)
|
rs774628957
|
0.00002
|
|
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs)
|
rs759593846
|
0.00002
|
|
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg)
|
rs778210210
|
0.00002
|
|
NM_001142800.2(EYS):c.32dup (p.Met12fs)
|
rs779372264
|
0.00002
|
|
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)
|
rs868349465
|
0.00002
|
|
NM_001142800.2(EYS):c.78_79dup (p.Gln27fs)
|
rs1352380841
|
0.00002
|
|
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
|
rs919157306
|
0.00002
|
|
NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)
|
rs1326635278
|
0.00002
|
|
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)
|
rs933169926
|
0.00002
|
|
NM_001159773.2(CANT1):c.258G>A (p.Trp86Ter)
|
rs199762751
|
0.00002
|
|
NM_001161.5(NUDT2):c.174G>T (p.Glu58Asp)
|
rs772730170
|
0.00002
|
|
NM_001163435.3(TBCK):c.1897+1G>A
|
rs374319146
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
|
rs781784543
|
0.00002
|
|
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)
|
rs776569219
|
0.00002
|
|
NM_001164508.2(NEB):c.17276del (p.Gln5759fs)
|
rs1346554177
|
0.00002
|
|
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter)
|
rs1553558398
|
0.00002
|
|
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)
|
rs1057517977
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.3304G>A (p.Ala1102Thr)
|
rs1236012815
|
0.00002
|
|
NM_001171.6(ABCC6):c.2248-2_2248-1del
|
rs111113624
|
0.00002
|
|
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln)
|
rs63750457
|
0.00002
|
|
NM_001171.6(ABCC6):c.3735G>T (p.Glu1245Asp)
|
rs281865557
|
0.00002
|
|
NM_001171.6(ABCC6):c.3883-6G>A
|
rs72664214
|
0.00002
|
|
NM_001171613.2(PREPL):c.888+1G>A
|
rs758019788
|
0.00002
|
|
NM_001177316.2(SLC34A3):c.1335+2T>A
|
rs752222200
|
0.00002
|
|
NM_001177316.2(SLC34A3):c.3G>A (p.Met1Ile)
|
rs369400414
|
0.00002
|
|
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln)
|
rs754449549
|
0.00002
|
|
NM_001182.5(ALDH7A1):c.332G>A (p.Gly111Glu)
|
rs994001880
|
0.00002
|
|
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly)
|
rs555896752
|
0.00002
|
|
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)
|
rs267606717
|
0.00002
|
|
NM_001195129.2(PRSS56):c.1555G>A (p.Gly519Arg)
|
rs730882162
|
0.00002
|
|
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter)
|
rs201912053
|
0.00002
|
|
NM_001195248.2(APTX):c.596del (p.Arg199fs)
|
rs770007531
|
0.00002
|
|
NM_001195518.2(MICU1):c.735+1G>A
|
rs369915689
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)
|
rs267607105
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
|
rs747538224
|
0.00002
|
|
NM_001199397.3(NEK1):c.214+1G>A
|
rs1049502301
|
0.00002
|
|
NM_001205254.2(OCLN):c.1037+1G>A
|
rs748442113
|
0.00002
|
|
NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter)
|
rs373915080
|
0.00002
|
|
NM_001206744.2(TPO):c.1993C>T (p.Arg665Trp)
|
rs776742629
|
0.00002
|
|
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln)
|
rs140124953
|
0.00002
|
|
NM_001206744.2(TPO):c.670_672del (p.Asp224del)
|
rs772164623
|
0.00002
|
|
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)
|
rs1436844070
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)
|
rs201954387
|
0.00002
|
|
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)
|
rs138156311
|
0.00002
|
|
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)
|
rs142575695
|
0.00002
|
|
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)
|
rs771558691
|
0.00002
|
|
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)
|
rs145583876
|
0.00002
|
|
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys)
|
rs387906862
|
0.00002
|
|
NM_001252024.2(TRPM1):c.2316+1G>A
|
rs757917155
|
0.00002
|
|
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln)
|
rs149705131
|
0.00002
|
|
NM_001253852.3(AP4B1):c.992_999del (p.Gln331fs)
|
rs773840258
|
0.00002
|
|
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter)
|
rs782074040
|
0.00002
|
|
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg)
|
rs1249437161
|
0.00002
|
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
|
NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter)
|
rs565675340
|
0.00002
|
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
|
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)
|
rs746721983
|
0.00002
|
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00002
|
|
NM_001267550.2(TTN):c.49346-1G>A
|
rs869312070
|
0.00002
|
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
|
NM_001271938.2(MEGF8):c.2971C>T (p.Arg991Ter)
|
rs779375840
|
0.00002
|
|
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu)
|
rs745636376
|
0.00002
|
|
NM_001297.5(CNGB1):c.217+5G>C
|
rs527236060
|
0.00002
|
|
NM_001298.3(CNGA3):c.1039C>T (p.Arg347Cys)
|
rs1211845337
|
0.00002
|
|
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val)
|
rs747447519
|
0.00002
|
|
NM_001298.3(CNGA3):c.668G>A (p.Arg223Gln)
|
rs762668060
|
0.00002
|
|
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp)
|
rs104893613
|
0.00002
|
|
NM_001303.4(COX10):c.674C>T (p.Pro225Leu)
|
rs104894556
|
0.00002
|
|
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)
|
rs759684383
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter)
|
rs778986624
|
0.00002
|
|
NM_001349.4(DARS1):c.1480C>G (p.Arg494Gly)
|
rs147077598
|
0.00002
|
|
NM_001351169.2(NT5C2):c.1099C>T (p.Arg367Ter)
|
rs769873284
|
0.00002
|
|
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)
|
rs148324626
|
0.00002
|
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
|
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)
|
rs773398782
|
0.00002
|
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
|
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg)
|
rs750247691
|
0.00002
|
|
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs)
|
rs1318653026
|
0.00002
|
|
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)
|
rs751604696
|
0.00002
|
|
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)
|
rs104886039
|
0.00002
|
|
NM_001360.3(DHCR7):c.575C>T (p.Ser192Phe)
|
rs766299724
|
0.00002
|
|
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)
|
rs775773057
|
0.00002
|
|
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)
|
rs782090947
|
0.00002
|
|
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe)
|
rs782757170
|
0.00002
|
|
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter)
|
rs1332668133
|
0.00002
|
|
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter)
|
rs749890642
|
0.00002
|
|
NM_001365276.2(TNXB):c.6293dup (p.Glu2100fs)
|
rs764867655
|
0.00002
|
|
NM_001365276.2(TNXB):c.6805C>T (p.Gln2269Ter)
|
rs749742731
|
0.00002
|
|
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp)
|
rs765848129
|
0.00002
|
|
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter)
|
rs756032160
|
0.00002
|
|
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)
|
rs372118787
|
0.00002
|
|
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter)
|
rs747900131
|
0.00002
|
|
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro)
|
rs748763552
|
0.00002
|
|
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)
|
rs745918507
|
0.00002
|
|
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys)
|
rs769557047
|
0.00002
|
|
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly)
|
rs727502973
|
0.00002
|
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
|
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr)
|
rs556875684
|
0.00002
|
|
NM_001371904.1(APOA5):c.913C>T (p.Gln305Ter)
|
rs1403296082
|
0.00002
|
|
NM_001371986.1(UNC80):c.6373C>T (p.Arg2125Ter)
|
rs940057866
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg)
|
rs121909098
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)
|
rs111033609
|
0.00002
|
|
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter)
|
rs759125480
|
0.00002
|
|
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter)
|
rs750126005
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.10042+2T>G
|
rs1261505725
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter)
|
rs562139820
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.11829C>G (p.Tyr3943Ter)
|
rs369658526
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.1360+2del
|
rs780539887
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys)
|
rs745870321
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met)
|
rs751030969
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter)
|
rs1223863177
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs)
|
rs771003300
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.7277G>T (p.Arg2426Leu)
|
rs373521030
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter)
|
rs137853032
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys)
|
rs397514637
|
0.00002
|
|
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)
|
rs150825781
|
0.00002
|
|
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter)
|
rs768620276
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter)
|
rs896947430
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)
|
rs773881370
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg)
|
rs386833755
|
0.00002
|
|
NM_001378778.1(MPDZ):c.4003+1G>A
|
rs767038098
|
0.00002
|
|
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter)
|
rs546151500
|
0.00002
|
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.1468C>T (p.Arg490Ter)
|
rs527536011
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.4212+1G>A
|
rs889110926
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.1396C>T (p.Arg466Ter)
|
rs201292596
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys)
|
rs149170427
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)
|
rs200444162
|
0.00002
|
|
NM_001385.3(DPYS):c.424-1G>A
|
rs879851088
|
0.00002
|
|
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)
|
rs137852967
|
0.00002
|
|
NM_001395413.1(POR):c.1354del (p.Gln452fs)
|
rs781805159
|
0.00002
|
|
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser)
|
rs774263134
|
0.00002
|
|
NM_001478.5(B4GALNT1):c.490+1G>A
|
rs377445018
|
0.00002
|
|
NM_001563.4(IMPG1):c.175C>T (p.Arg59Ter)
|
rs200651043
|
0.00002
|
|
NM_001673.5(ASNS):c.1019G>A (p.Arg340His)
|
rs1360484422
|
0.00002
|
|
NM_001673.5(ASNS):c.224A>G (p.Asn75Ser)
|
rs747624770
|
0.00002
|
|
NM_001698.3(AUH):c.505+1G>C
|
rs773652620
|
0.00002
|
|
NM_001723.7(DST):c.4534C>T (p.Arg1512Ter)
|
rs761229102
|
0.00002
|
|
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)
|
rs563971993
|
0.00002
|
|
NM_001846.4(COL4A2):c.360+2T>C
|
rs2139454253
|
0.00002
|
|
NM_001876.4(CPT1A):c.1386del (p.Phe462fs)
|
rs753776604
|
0.00002
|
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
|
NM_001943.5(DSG2):c.3G>A (p.Met1Ile)
|
rs1021457619
|
0.00002
|
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
|
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541
|
0.00002
|
|
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)
|
rs770111639
|
0.00002
|
|
NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter)
|
rs201217202
|
0.00002
|
|
NM_002206.3(ITGA7):c.445C>T (p.Arg149Ter)
|
rs757680080
|
0.00002
|
|
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)
|
rs747273828
|
0.00002
|
|
NM_002292.4(LAMB2):c.2700_2701del (p.Gly901_Gly902insTer)
|
rs749154605
|
0.00002
|
|
NM_002299.4(LCT):c.3535C>T (p.Gln1179Ter)
|
rs749118441
|
0.00002
|
|
NM_002437.5(MPV17):c.376-9T>G
|
rs368900406
|
0.00002
|
|
NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs)
|
rs1579758005
|
0.00002
|
|
NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter)
|
rs777997657
|
0.00002
|
|
NM_002454.3(MTRR):c.166G>A (p.Val56Met)
|
rs761061866
|
0.00002
|
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00002
|
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
|
NM_002528.7(NTHL1):c.115+1G>A
|
rs749908882
|
0.00002
|
|
NM_002591.4(PCK1):c.961+1G>A
|
rs776767788
|
0.00002
|
|
NM_002617.4(PEX10):c.1A>G (p.Met1Val)
|
rs886041314
|
0.00002
|
|
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)
|
rs199759055
|
0.00002
|
|
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)
|
rs763393580
|
0.00002
|
|
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg)
|
rs765916932
|
0.00002
|
|
NM_002693.3(POLG):c.2870C>T (p.Ala957Val)
|
rs753160398
|
0.00002
|
|
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg)
|
rs142347031
|
0.00002
|
|
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)
|
rs111033568
|
0.00002
|
|
NM_002772.3(TMPRSS15):c.2611C>T (p.Arg871Ter)
|
rs767258888
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.1375C>T (p.Arg459Ter)
|
rs887933055
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)
|
rs537043237
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)
|
rs121434582
|
0.00002
|
|
NM_002861.5(PCYT2):c.676C>T (p.His226Tyr)
|
rs778113360
|
0.00002
|
|
NM_002878.4(RAD51D):c.363del (p.Ala122fs)
|
rs730881935
|
0.00002
|
|
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)
|
rs587781756
|
0.00002
|
|
NM_002878.4(RAD51D):c.576+1G>A
|
rs781161543
|
0.00002
|
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
|
NM_002887.4(RARS1):c.1535G>A (p.Arg512Gln)
|
rs369398935
|
0.00002
|
|
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp)
|
rs148410166
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
|
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter)
|
rs1373388852
|
0.00002
|
|
NM_003119.4(SPG7):c.201del (p.Leu67_Leu68insTer)
|
rs763413730
|
0.00002
|
|
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)
|
rs761105413
|
0.00002
|
|
NM_003184.4(TAF2):c.2531C>T (p.Pro844Leu)
|
rs750451843
|
0.00002
|
|
NM_003238.6(TGFB2):c.933-1G>A
|
rs866504799
|
0.00002
|
|
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln)
|
rs748972748
|
0.00002
|
|
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)
|
rs770045008
|
0.00002
|
|
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)
|
rs62636511
|
0.00002
|
|
NM_003322.6(TULP1):c.932G>A (p.Arg311Gln)
|
rs1279906432
|
0.00002
|
|
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)
|
rs587779351
|
0.00002
|
|
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly)
|
rs754080445
|
0.00002
|
|
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg)
|
rs121908681
|
0.00002
|
|
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)
|
rs121908683
|
0.00002
|
|
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)
|
rs587784349
|
0.00002
|
|
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter)
|
rs767527819
|
0.00002
|
|
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)
|
rs72549396
|
0.00002
|
|
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)
|
rs766285158
|
0.00002
|
|
NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr)
|
rs140626260
|
0.00002
|
|
NM_003896.4(ST3GAL5):c.282del (p.Met94fs)
|
rs1383734078
|
0.00002
|
|
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)
|
rs113994064
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter)
|
rs773357652
|
0.00002
|
|
NM_004004.6(GJB2):c.119C>A (p.Ala40Glu)
|
rs111033296
|
0.00002
|
|
NM_004004.6(GJB2):c.299A>T (p.His100Leu)
|
rs1422767764
|
0.00002
|
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
0.00002
|
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
|
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu)
|
rs777354267
|
0.00002
|
|
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)
|
rs770931871
|
0.00002
|
|
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val)
|
rs200584793
|
0.00002
|
|
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)
|
rs565090080
|
0.00002
|
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
|
NM_004174.4(SLC9A3):c.932+1G>A
|
rs144524702
|
0.00002
|
|
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys)
|
rs765333778
|
0.00002
|
|
NM_004183.4(BEST1):c.140G>A (p.Arg47His)
|
rs28940278
|
0.00002
|
|
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter)
|
rs730882240
|
0.00002
|
|
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter)
|
rs752254977
|
0.00002
|
|
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)
|
rs386833844
|
0.00002
|
|
NM_004318.4(ASPH):c.2181_2183dup (p.Trp728Ter)
|
rs765610535
|
0.00002
|
|
NM_004366.6(CLCN2):c.1855G>T (p.Glu619Ter)
|
rs201976983
|
0.00002
|
|
NM_004407.4(DMP1):c.55-1G>C
|
rs587776697
|
0.00002
|
|
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
|
rs377686388
|
0.00002
|
|
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)
|
rs761669036
|
0.00002
|
|
NM_004482.4(GALNT3):c.892del (p.Tyr298fs)
|
rs762936774
|
0.00002
|
|
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter)
|
rs769222264
|
0.00002
|
|
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter)
|
rs747737475
|
0.00002
|
|
NM_004562.3(PRKN):c.167T>A (p.Val56Glu)
|
rs137853059
|
0.00002
|
|
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)
|
rs137853060
|
0.00002
|
|
NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr)
|
rs747427602
|
0.00002
|
|
NM_004589.4(SCO1):c.551del (p.Val184fs)
|
rs766454175
|
0.00002
|
|
NM_004614.5(TK2):c.588A>T (p.Arg196Ser)
|
rs752949191
|
0.00002
|
|
NM_004629.2(FANCG):c.1144-1G>T
|
rs755363896
|
0.00002
|
|
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)
|
rs386833874
|
0.00002
|
|
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)
|
rs386833880
|
0.00002
|
|
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)
|
rs753656470
|
0.00002
|
|
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter)
|
rs150855173
|
0.00002
|
|
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter)
|
rs386833953
|
0.00002
|
|
NM_004646.4(NPHS1):c.928G>A (p.Asp310Asn)
|
rs763972372
|
0.00002
|
|
NM_004855.5(PIGB):c.695G>A (p.Arg232His)
|
rs758196959
|
0.00002
|
|
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu)
|
rs104894586
|
0.00002
|
|
NM_004928.3(CFAP410):c.286G>A (p.Glu96Lys)
|
rs774614339
|
0.00002
|
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00002
|
|
NM_005055.5(RAPSN):c.-210A>G
|
rs786200905
|
0.00002
|
|
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)
|
rs1479498379
|
0.00002
|
|
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)
|
rs104894294
|
0.00002
|
|
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter)
|
rs74315512
|
0.00002
|
|
NM_005159.5(ACTC1):c.941G>A (p.Arg314His)
|
rs121912673
|
0.00002
|
|
NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg)
|
rs1275864234
|
0.00002
|
|
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter)
|
rs121917704
|
0.00002
|
|
NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu)
|
rs770633648
|
0.00002
|
|
NM_005340.7(HINT1):c.334C>A (p.His112Asn)
|
rs373849532
|
0.00002
|
|
NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter)
|
rs760574657
|
0.00002
|
|
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)
|
rs121908626
|
0.00002
|
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
|
NM_005476.7(GNE):c.302G>A (p.Arg101His)
|
rs144727134
|
0.00002
|
|
NM_005476.7(GNE):c.32G>A (p.Arg11Gln)
|
rs1401082365
|
0.00002
|
|
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)
|
rs762106720
|
0.00002
|
|
NM_005530.3(IDH3A):c.911C>A (p.Pro304His)
|
rs756712426
|
0.00002
|
|
NM_005562.3(LAMC2):c.1350C>A (p.Tyr450Ter)
|
rs201308300
|
0.00002
|
|
NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter)
|
rs118203901
|
0.00002
|
|
NM_005591.4(MRE11):c.1867+2T>C
|
rs745677716
|
0.00002
|
|
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)
|
rs751889864
|
0.00002
|
|
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)
|
rs398124208
|
0.00002
|
|
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)
|
rs761438921
|
0.00002
|
|
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)
|
rs1057517145
|
0.00002
|
|
NM_005609.4(PYGM):c.345+2T>A
|
rs1219299972
|
0.00002
|
|
NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg)
|
rs774038272
|
0.00002
|
|
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp)
|
rs139574075
|
0.00002
|
|
NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter)
|
rs772468452
|
0.00002
|
|
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter)
|
rs368980595
|
0.00002
|
|
NM_005732.4(RAD50):c.3592C>T (p.Arg1198Ter)
|
rs761837416
|
0.00002
|
|
NM_005732.4(RAD50):c.3715C>T (p.Arg1239Ter)
|
rs876658770
|
0.00002
|
|
NM_005912.3(MC4R):c.542G>A (p.Gly181Asp)
|
rs13447333
|
0.00002
|
|
NM_005912.3(MC4R):c.750_751del (p.Ile251fs)
|
rs13447339
|
0.00002
|
|
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)
|
rs121434295
|
0.00002
|
|
NM_005989.4(AKR1D1):c.398C>G (p.Pro133Arg)
|
rs267606649
|
0.00002
|
|
NM_006005.3(WFS1):c.2002C>T (p.Gln668Ter)
|
rs1335308693
|
0.00002
|
|
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)
|
rs1443751733
|
0.00002
|
|
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter)
|
rs201239579
|
0.00002
|
|
NM_006019.4(TCIRG1):c.117+1G>A
|
rs377303800
|
0.00002
|
|
NM_006031.6(PCNT):c.2347dup (p.Gln783fs)
|
rs766116729
|
0.00002
|
|
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter)
|
rs757577162
|
0.00002
|
|
NM_006204.4(PDE6C):c.939+5G>A
|
rs374805348
|
0.00002
|
|
NM_006231.4(POLE):c.270del (p.Asp90fs)
|
rs878854854
|
0.00002
|
|
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter)
|
rs754982151
|
0.00002
|
|
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)
|
rs137853100
|
0.00002
|
|
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)
|
rs146918863
|
0.00002
|
|
NM_006269.2(RP1):c.1498_1499del (p.Met500fs)
|
rs765129639
|
0.00002
|
|
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)
|
rs180729424
|
0.00002
|
|
NM_006269.2(RP1):c.5962dup (p.Ile1988fs)
|
rs769512989
|
0.00002
|
|
NM_006295.3(VARS1):c.2840G>A (p.Arg947His)
|
rs150882285
|
0.00002
|
|
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln)
|
rs769369302
|
0.00002
|
|
NM_006302.3(MOGS):c.646del (p.Val216fs)
|
rs777654978
|
0.00002
|
|
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)
|
rs144610914
|
0.00002
|
|
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)
|
rs75718910
|
0.00002
|
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00002
|
|
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln)
|
rs753635972
|
0.00002
|
|
NM_006580.4(CLDN16):c.217+5G>A
|
rs751959432
|
0.00002
|
|
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)
|
rs267606948
|
0.00002
|
|
NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter)
|
rs982944299
|
0.00002
|
|
NM_006767.4(LZTR1):c.604_605del (p.Met202fs)
|
rs776788495
|
0.00002
|
|
NM_006831.3(CLP1):c.419G>A (p.Arg140His)
|
rs587777616
|
0.00002
|
|
NM_006892.4(DNMT3B):c.2177T>G (p.Val726Gly)
|
rs121908941
|
0.00002
|
|
NM_006907.4(PYCR1):c.540+1G>A
|
rs752297179
|
0.00002
|
|
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg)
|
rs121918375
|
0.00002
|
|
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln)
|
rs773360200
|
0.00002
|
|
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp)
|
rs199921604
|
0.00002
|
|
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter)
|
rs780839834
|
0.00002
|
|
NM_007055.4(POLR3A):c.3243-2A>G
|
rs1462460124
|
0.00002
|
|
NM_007103.4(NDUFV1):c.296G>A (p.Trp99Ter)
|
rs2495716193
|
0.00002
|
|
NM_007103.4(NDUFV1):c.736G>A (p.Glu246Lys)
|
rs375897089
|
0.00002
|
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
|
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)
|
rs587782070
|
0.00002
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
0.00002
|
|
NM_007289.4(MME):c.667C>T (p.Arg223Ter)
|
rs201328537
|
0.00002
|
|
NM_012079.6(DGAT1):c.1183C>T (p.Arg395Ter)
|
rs372817613
|
0.00002
|
|
NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter)
|
rs267606710
|
0.00002
|
|
NM_012120.3(CD2AP):c.764dup (p.Ser256fs)
|
rs776297606
|
0.00002
|
|
NM_012179.4(FBXO7):c.1141C>T (p.Arg381Ter)
|
rs78099169
|
0.00002
|
|
NM_012186.3(FOXE3):c.632C>A (p.Ser211Ter)
|
rs1035206433
|
0.00002
|
|
NM_012200.4(B3GAT3):c.1A>T (p.Met1Leu)
|
rs139759238
|
0.00002
|
|
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)
|
rs180177316
|
0.00002
|
|
NM_012203.2(GRHPR):c.735-1G>A
|
rs180177317
|
0.00002
|
|
NM_012216.4(MID2):c.1040G>A (p.Arg347Gln)
|
rs587777605
|
0.00002
|
|
NM_012233.3(RAB3GAP1):c.520C>T (p.Arg174Ter)
|
rs749616608
|
0.00002
|
|
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs)
|
rs1064794536
|
0.00002
|
|
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
|
rs386833990
|
0.00002
|
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
|
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)
|
rs774242915
|
0.00002
|
|
NM_013339.4(ALG6):c.257+2dup
|
rs745426479
|
0.00002
|
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
|
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys)
|
rs563710728
|
0.00002
|
|
NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys)
|
rs777282696
|
0.00002
|
|
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)
|
rs753711253
|
0.00002
|
|
NM_014053.4(FLVCR1):c.139_151del (p.Phe47fs)
|
rs1358722147
|
0.00002
|
|
NM_014053.4(FLVCR1):c.742G>T (p.Gly248Ter)
|
rs746482522
|
0.00002
|
|
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His)
|
rs200666300
|
0.00002
|
|
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly)
|
rs760916142
|
0.00002
|
|
NM_014249.4(NR2E3):c.290G>A (p.Arg97His)
|
rs1489149705
|
0.00002
|
|
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)
|
rs527236086
|
0.00002
|
|
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)
|
rs104894424
|
0.00002
|
|
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys)
|
rs150736997
|
0.00002
|
|
NM_014254.3(RXYLT1):c.997G>A (p.Gly333Arg)
|
rs777596548
|
0.00002
|
|
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr)
|
rs1470124674
|
0.00002
|
|
NM_014305.4(TGDS):c.700T>C (p.Tyr234His)
|
rs544436734
|
0.00002
|
|
NM_014362.4(HIBCH):c.852del (p.Leu284fs)
|
rs1131692017
|
0.00002
|
|
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)
|
rs946368716
|
0.00002
|
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
|
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln)
|
rs121908422
|
0.00002
|
|
NM_014585.6(SLC40A1):c.800G>A (p.Gly267Asp)
|
rs104893664
|
0.00002
|
|
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)
|
rs199506378
|
0.00002
|
|
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu)
|
rs772757427
|
0.00002
|
|
NM_014714.4(IFT140):c.70C>T (p.His24Tyr)
|
rs939722027
|
0.00002
|
|
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr)
|
rs773372123
|
0.00002
|
|
NM_014797.3(ZBTB24):c.1222T>G (p.Cys408Gly)
|
rs387907105
|
0.00002
|
|
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)
|
rs746068882
|
0.00002
|
|
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)
|
rs587777714
|
0.00002
|
|
NM_014874.4(MFN2):c.334G>A (p.Val112Met)
|
rs757937208
|
0.00002
|
|
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)
|
rs764893412
|
0.00002
|
|
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter)
|
rs780849567
|
0.00002
|
|
NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs)
|
rs765970053
|
0.00002
|
|
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser)
|
rs759806045
|
0.00002
|
|
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)
|
rs869320625
|
0.00002
|
|
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter)
|
rs753018563
|
0.00002
|
|
NM_015087.5(SPART):c.776del (p.Asp259fs)
|
rs748865622
|
0.00002
|
|
NM_015202.5(KATNIP):c.2788C>T (p.Gln930Ter)
|
rs755989946
|
0.00002
|
|
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys)
|
rs1380005347
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)
|
rs121918204
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)
|
rs778533826
|
0.00002
|
|
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter)
|
rs386834005
|
0.00002
|
|
NM_015340.4(LARS2):c.556C>T (p.Gln186Ter)
|
rs1163473923
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.5791-6G>A
|
rs771906344
|
0.00002
|
|
NM_015378.4(VPS13D):c.941+3A>G
|
rs372431023
|
0.00002
|
|
NM_015450.3(POT1):c.1164-1G>A
|
rs866612394
|
0.00002
|
|
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
|
NM_015512.5(DNAH1):c.7864C>T (p.Arg2622Ter)
|
rs368033879
|
0.00002
|
|
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)
|
rs745688122
|
0.00002
|
|
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)
|
rs121918547
|
0.00002
|
|
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)
|
rs118204044
|
0.00002
|
|
NM_015713.5(RRM2B):c.48G>A (p.Glu16=)
|
rs515726180
|
0.00002
|
|
NM_015836.4(WARS2):c.833T>G (p.Val278Gly)
|
rs765904496
|
0.00002
|
|
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp)
|
rs368085185
|
0.00002
|
|
NM_015937.6(PIGT):c.188-2A>G
|
rs771691280
|
0.00002
|
|
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys)
|
rs778531326
|
0.00002
|
|
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys)
|
rs202238194
|
0.00002
|
|
NM_016011.5(MECR):c.695G>A (p.Gly232Glu)
|
rs762913101
|
0.00002
|
|
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala)
|
rs553128312
|
0.00002
|
|
NM_016219.5(MAN1B1):c.1075G>T (p.Gly359Ter)
|
rs745337581
|
0.00002
|
|
NM_016222.4(DDX41):c.1187T>C (p.Ile396Thr)
|
rs747072227
|
0.00002
|
|
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)
|
rs748868741
|
0.00002
|
|
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)
|
rs201067821
|
0.00002
|
|
NM_016239.4(MYO15A):c.8341-2A>C
|
rs778404517
|
0.00002
|
|
NM_016247.4(IMPG2):c.1802T>A (p.Leu601Ter)
|
rs138793555
|
0.00002
|
|
NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter)
|
rs267606875
|
0.00002
|
|
NM_016356.5(DCDC2):c.942del (p.Gly315fs)
|
rs1554144869
|
0.00002
|
|
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter)
|
rs780124402
|
0.00002
|
|
NM_017534.6(MYH2):c.3331C>T (p.Gln1111Ter)
|
rs758264018
|
0.00002
|
|
NM_017696.3(MCM9):c.1151-1G>A
|
rs1380220881
|
0.00002
|
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
|
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)
|
rs762482919
|
0.00002
|
|
NM_017866.6(TMEM70):c.105dup (p.Val36fs)
|
rs1411381518
|
0.00002
|
|
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)
|
rs154774640
|
0.00002
|
|
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)
|
rs201095412
|
0.00002
|
|
NM_018006.5(TRMU):c.1102-3C>G
|
rs753039116
|
0.00002
|
|
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)
|
rs764622793
|
0.00002
|
|
NM_018075.5(ANO10):c.1218+1G>C
|
rs375479262
|
0.00002
|
|
NM_018075.5(ANO10):c.1760C>G (p.Ser587Ter)
|
rs762918406
|
0.00002
|
|
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln)
|
rs121918207
|
0.00002
|
|
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys)
|
rs769266169
|
0.00002
|
|
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)
|
rs371310428
|
0.00002
|
|
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)
|
rs757712371
|
0.00002
|
|
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter)
|
rs267607056
|
0.00002
|
|
NM_018368.4(LMBRD1):c.1339-1G>T
|
rs768709895
|
0.00002
|
|
NM_018417.6(ADCY10):c.1263C>A (p.Tyr421Ter)
|
rs770888477
|
0.00002
|
|
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)
|
rs767745816
|
0.00002
|
|
NM_018474.6(KIZ):c.583C>T (p.Arg195Ter)
|
rs775124094
|
0.00002
|
|
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu)
|
rs759393722
|
0.00002
|
|
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys)
|
rs761027478
|
0.00002
|
|
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys)
|
rs387907111
|
0.00002
|
|
NM_018706.7(DHTKD1):c.1897-1G>A
|
rs760386662
|
0.00002
|
|
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)
|
rs765097897
|
0.00002
|
|
NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr)
|
rs149170494
|
0.00002
|
|
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)
|
rs765379963
|
0.00002
|
|
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter)
|
rs368482584
|
0.00002
|
|
NM_019098.5(CNGB3):c.1578+1G>A
|
rs372006750
|
0.00002
|
|
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter)
|
rs768345097
|
0.00002
|
|
NM_019109.5(ALG1):c.1250_1251insTG (p.Ala418fs)
|
rs746019074
|
0.00002
|
|
NM_019109.5(ALG1):c.841G>T (p.Val281Phe)
|
rs553396382
|
0.00002
|
|
NM_019892.6(INPP5E):c.1760del (p.Val587fs)
|
rs775518991
|
0.00002
|
|
NM_020166.5(MCCC1):c.137-2A>G
|
rs727504006
|
0.00002
|
|
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)
|
rs375244642
|
0.00002
|
|
NM_020166.5(MCCC1):c.639+5G>T
|
rs768630906
|
0.00002
|
|
NM_020166.5(MCCC1):c.640-2A>G
|
rs772395858
|
0.00002
|
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
|
NM_020207.7(ERCC6L2):c.3763C>T (p.Arg1255Ter)
|
rs138069275
|
0.00002
|
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
|
NM_020247.5(COQ8A):c.830T>C (p.Leu277Pro)
|
rs781518112
|
0.00002
|
|
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp)
|
rs140246430
|
0.00002
|
|
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)
|
rs748118737
|
0.00002
|
|
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)
|
rs775295739
|
0.00002
|
|
NM_020365.5(EIF2B3):c.674G>A (p.Arg225Gln)
|
rs113994024
|
0.00002
|
|
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg)
|
rs535922252
|
0.00002
|
|
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)
|
rs565837539
|
0.00002
|
|
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)
|
rs118203956
|
0.00002
|
|
NM_020442.6(VARS2):c.1087C>T (p.Arg363Ter)
|
rs578118592
|
0.00002
|
|
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)
|
rs777028011
|
0.00002
|
|
NM_020458.4(TTC7A):c.2018-1G>C
|
rs948534045
|
0.00002
|
|
NM_020533.3(MCOLN1):c.362C>T (p.Thr121Met)
|
rs750170007
|
0.00002
|
|
NM_020547.3(AMHR2):c.1387C>T (p.Arg463Cys)
|
rs374247138
|
0.00002
|
|
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)
|
rs763982675
|
0.00002
|
|
NM_020632.3(ATP6V0A4):c.1345C>T (p.Arg449Cys)
|
rs370861594
|
0.00002
|
|
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)
|
rs1260264247
|
0.00002
|
|
NM_020771.4(HACE1):c.994C>T (p.Arg332Ter)
|
rs759641985
|
0.00002
|
|
NM_020778.5(ALPK3):c.1093C>T (p.Gln365Ter)
|
rs773730492
|
0.00002
|
|
NM_020778.5(ALPK3):c.297del (p.Ile99fs)
|
rs770674513
|
0.00002
|
|
NM_020778.5(ALPK3):c.4130-1G>A
|
rs762110595
|
0.00002
|
|
NM_020779.4(WDR35):c.136C>T (p.Gln46Ter)
|
rs767788330
|
0.00002
|
|
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter)
|
rs372751467
|
0.00002
|
|
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)
|
rs201757275
|
0.00002
|
|
NM_021101.5(CLDN1):c.192C>A (p.Cys64Ter)
|
rs752054405
|
0.00002
|
|
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg)
|
rs758657734
|
0.00002
|
|
NM_021628.3(ALOXE3):c.434G>A (p.Arg145His)
|
rs745480657
|
0.00002
|
|
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile)
|
rs369588002
|
0.00002
|
|
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
|
rs372833027
|
0.00002
|
|
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu)
|
rs778251205
|
0.00002
|
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965
|
0.00002
|
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00002
|
|
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)
|
rs750880909
|
0.00002
|
|
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe)
|
rs763721044
|
0.00002
|
|
NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)
|
rs757332023
|
0.00002
|
|
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys)
|
rs747068278
|
0.00002
|
|
NM_022437.3(ABCG8):c.1213C>T (p.Arg405Cys)
|
rs199553576
|
0.00002
|
|
NM_022445.4(TPK1):c.185+1G>A
|
rs747753388
|
0.00002
|
|
NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter)
|
rs568207978
|
0.00002
|
|
NM_022662.4(ANAPC1):c.2705-198C>T
|
rs999743155
|
0.00002
|
|
NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp)
|
rs763325435
|
0.00002
|
|
NM_023036.6(DNAI2):c.610+1G>A
|
rs758109864
|
0.00002
|
|
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile)
|
rs1372719653
|
0.00002
|
|
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg)
|
rs761389904
|
0.00002
|
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
|
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)
|
rs1247934219
|
0.00002
|
|
NM_024312.5(GNPTAB):c.2715+2T>G
|
rs281865001
|
0.00002
|
|
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)
|
rs760345680
|
0.00002
|
|
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu)
|
rs746953590
|
0.00002
|
|
NM_024422.6(DSC2):c.943-1G>A
|
rs796756333
|
0.00002
|
|
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)
|
rs372632599
|
0.00002
|
|
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923
|
0.00002
|
|
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925
|
0.00002
|
|
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)
|
rs183771956
|
0.00002
|
|
NM_024649.5(BBS1):c.479+2T>G
|
rs1353098253
|
0.00002
|
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
0.00002
|
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
|
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)
|
rs1565216037
|
0.00002
|
|
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)
|
rs1460517643
|
0.00002
|
|
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)
|
rs1555202584
|
0.00002
|
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
|
NM_024725.4(CCDC82):c.535C>T (p.Arg179Ter)
|
rs758691852
|
0.00002
|
|
NM_024753.5(TTC21B):c.2482dup (p.Met828fs)
|
rs906032090
|
0.00002
|
|
NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter)
|
rs202239983
|
0.00002
|
|
NM_024809.5(TCTN2):c.703del (p.Leu235fs)
|
rs760830696
|
0.00002
|
|
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter)
|
rs1004779078
|
0.00002
|
|
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)
|
rs119470018
|
0.00002
|
|
NM_024996.7(GFM1):c.689+908G>A
|
rs751069628
|
0.00002
|
|
NM_025099.6(CTC1):c.1360del (p.Glu454fs)
|
rs748852501
|
0.00002
|
|
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter)
|
rs952398755
|
0.00002
|
|
NM_025099.6(CTC1):c.2758+1G>T
|
rs200609323
|
0.00002
|
|
NM_025103.4(IFT74):c.915del (p.Glu306fs)
|
rs1350359379
|
0.00002
|
|
NM_025114.4(CEP290):c.3123dup (p.Lys1042Ter)
|
rs1555212271
|
0.00002
|
|
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs)
|
rs767231715
|
0.00002
|
|
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn)
|
rs1451698951
|
0.00002
|
|
NM_025150.5(TARS2):c.2143G>A (p.Glu715Lys)
|
rs756855066
|
0.00002
|
|
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys)
|
rs760208518
|
0.00002
|
|
NM_025207.5(FLAD1):c.408C>A (p.Cys136Ter)
|
rs1057518160
|
0.00002
|
|
NM_025216.3(WNT10A):c.311G>A (p.Arg104His)
|
rs374910216
|
0.00002
|
|
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter)
|
rs762739726
|
0.00002
|
|
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)
|
rs121917882
|
0.00002
|
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00002
|
|
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)
|
rs771028960
|
0.00002
|
|
NM_031307.4(PUS3):c.838C>T (p.Arg280Ter)
|
rs374443634
|
0.00002
|
|
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)
|
rs121918527
|
0.00002
|
|
NM_031466.8(TRAPPC9):c.-258_-257del
|
rs1402095850
|
0.00002
|
|
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)
|
rs762047808
|
0.00002
|
|
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)
|
rs777309662
|
0.00002
|
|
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp)
|
rs121908316
|
0.00002
|
|
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer)
|
rs765169755
|
0.00002
|
|
NM_032383.5(HPS3):c.436G>T (p.Gly146Ter)
|
rs752837159
|
0.00002
|
|
NM_032730.5(RTN4IP1):c.957dup (p.Thr320fs)
|
rs756747776
|
0.00002
|
|
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)
|
rs529232938
|
0.00002
|
|
NM_033056.4(PCDH15):c.4592_4627dup (p.Ser1543Ter)
|
rs1442366836
|
0.00002
|
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
|
NM_033419.5(PGAP3):c.639C>G (p.Tyr213Ter)
|
rs746891574
|
0.00002
|
|
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp)
|
rs555811074
|
0.00002
|
|
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)
|
rs1481415459
|
0.00002
|
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
|
NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln)
|
rs749968109
|
0.00002
|
|
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu)
|
rs763862849
|
0.00002
|
|
NM_052989.3(IFT122):c.2313C>A (p.Tyr771Ter)
|
rs770590297
|
0.00002
|
|
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)
|
rs267607192
|
0.00002
|
|
NM_054012.4(ASS1):c.1194-1G>C
|
rs727503814
|
0.00002
|
|
NM_054012.4(ASS1):c.175-1119G>A
|
rs1488840592
|
0.00002
|
|
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)
|
rs936192871
|
0.00002
|
|
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)
|
rs762387914
|
0.00002
|
|
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)
|
rs371265106
|
0.00002
|
|
NM_057176.3(BSND):c.97G>C (p.Val33Leu)
|
rs754523289
|
0.00002
|
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
|
NM_058216.3(RAD51C):c.837+1G>A
|
rs760235677
|
0.00002
|
|
NM_078470.6(COX15):c.686C>A (p.Ser229Ter)
|
rs201002908
|
0.00002
|
|
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)
|
rs911722283
|
0.00002
|
|
NM_130466.4(UBE3B):c.1852C>T (p.Arg618Ter)
|
rs746058354
|
0.00002
|
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
|
NM_130810.4(DNAAF4):c.1047+1G>A
|
rs779538333
|
0.00002
|
|
NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg)
|
rs121434289
|
0.00002
|
|
NM_130849.4(SLC39A4):c.283C>T (p.Arg95Cys)
|
rs121434292
|
0.00002
|
|
NM_133497.4(KCNV2):c.531T>A (p.Cys177Ter)
|
rs1282433030
|
0.00002
|
|
NM_138370.3(PKDCC):c.492del (p.Leu165fs)
|
rs1158542233
|
0.00002
|
|
NM_138370.3(PKDCC):c.785T>G (p.Leu262Arg)
|
rs373676533
|
0.00002
|
|
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)
|
rs267606762
|
0.00002
|
|
NM_138691.3(TMC1):c.1166G>A (p.Arg389Gln)
|
rs772640673
|
0.00002
|
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
|
NM_138694.4(PKHD1):c.10906C>T (p.Gln3636Ter)
|
rs765934021
|
0.00002
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
0.00002
|
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
|
NM_138694.4(PKHD1):c.390+1G>T
|
rs752327566
|
0.00002
|
|
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
|
rs774290802
|
0.00002
|
|
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)
|
rs369626030
|
0.00002
|
|
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro)
|
rs748196998
|
0.00002
|
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
0.00002
|
|
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)
|
rs398124497
|
0.00002
|
|
NM_139027.6(ADAMTS13):c.304C>T (p.Arg102Cys)
|
rs121908469
|
0.00002
|
|
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)
|
rs374993554
|
0.00002
|
|
NM_144658.4(DOCK11):c.5653C>T (p.Arg1885Cys)
|
rs750008778
|
0.00002
|
|
NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu)
|
rs140364490
|
0.00002
|
|
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)
|
rs376239580
|
0.00002
|
|
NM_145200.5(CABP4):c.292C>T (p.Arg98Ter)
|
rs777555935
|
0.00002
|
|
NM_145207.3(AFG2A):c.1540C>T (p.Arg514Ter)
|
rs1446807404
|
0.00002
|
|
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His)
|
rs55940927
|
0.00002
|
|
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter)
|
rs760382778
|
0.00002
|
|
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)
|
rs376133710
|
0.00002
|
|
NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)
|
rs145591298
|
0.00002
|
|
NM_152416.4(NDUFAF6):c.29G>A (p.Trp10Ter)
|
rs756507716
|
0.00002
|
|
NM_152416.4(NDUFAF6):c.420+784C>T
|
rs749738738
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
|
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)
|
rs754875934
|
0.00002
|
|
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)
|
rs759408031
|
0.00002
|
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
|
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)
|
rs180177354
|
0.00002
|
|
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)
|
rs764776104
|
0.00002
|
|
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)
|
rs386834078
|
0.00002
|
|
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)
|
rs140353201
|
0.00002
|
|
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)
|
rs786204533
|
0.00002
|
|
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs)
|
rs763909903
|
0.00002
|
|
NM_152753.4(SCUBE3):c.2444T>C (p.Ile815Thr)
|
rs751478115
|
0.00002
|
|
NM_152906.7(TANGO2):c.4del (p.Cys2fs)
|
rs869320693
|
0.00002
|
|
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter)
|
rs748875458
|
0.00002
|
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
|
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)
|
rs752362727
|
0.00002
|
|
NM_153717.3(EVC):c.2782+1G>T
|
rs1007534611
|
0.00002
|
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00002
|
|
NM_172240.3(POC1B):c.101-3T>G
|
rs750116711
|
0.00002
|
|
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)
|
rs864309726
|
0.00002
|
|
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp)
|
rs558341655
|
0.00002
|
|
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln)
|
rs374704368
|
0.00002
|
|
NM_176787.5(PIGN):c.963G>A (p.Gln321=)
|
rs587777187
|
0.00002
|
|
NM_176824.3(BBS7):c.133dup (p.Met45fs)
|
rs777707753
|
0.00002
|
|
NM_182894.3(VSX2):c.679C>T (p.Arg227Trp)
|
rs121912545
|
0.00002
|
|
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)
|
rs398124561
|
0.00002
|
|
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)
|
rs111033405
|
0.00002
|
|
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)
|
rs781688103
|
0.00002
|
|
NM_198075.4(LRRC56):c.598C>T (p.Gln200Ter)
|
rs138918564
|
0.00002
|
|
NM_199242.3(UNC13D):c.322-2A>T
|
rs752651197
|
0.00002
|
|
NM_199292.3(TH):c.-71C>T
|
rs549435434
|
0.00002
|
|
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)
|
rs778627080
|
0.00002
|
|
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)
|
rs62636266
|
0.00002
|
|
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)
|
rs145282040
|
0.00002
|
|
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)
|
rs765676754
|
0.00002
|
|
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)
|
rs143511261
|
0.00002
|
|
NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe)
|
rs768713412
|
0.00002
|
|
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)
|
rs1057520152
|
0.00002
|
|
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)
|
rs760544654
|
0.00002
|
|
NM_201548.5(CERKL):c.481+2T>G
|
rs753994107
|
0.00002
|
|
NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp)
|
rs104894676
|
0.00002
|
|
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro)
|
rs750321557
|
0.00002
|
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
|
NM_206933.4(USH2A):c.12295-2A>G
|
rs151148854
|
0.00002
|
|
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs)
|
rs764917754
|
0.00002
|
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00002
|
|
NM_206933.4(USH2A):c.1391G>A (p.Arg464His)
|
rs771000800
|
0.00002
|
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
0.00002
|
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
|
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)
|
rs752377040
|
0.00002
|
|
NM_206933.4(USH2A):c.1644+1G>A
|
rs912980910
|
0.00002
|
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
|
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr)
|
rs137954284
|
0.00002
|
|
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)
|
rs757154662
|
0.00002
|
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
|
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
|
rs201529124
|
0.00002
|
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00002
|
|
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
|
rs375668376
|
0.00002
|
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
0.00002
|
|
NM_206933.4(USH2A):c.5857+2T>C
|
rs397518022
|
0.00002
|
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
|
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter)
|
rs121434364
|
0.00002
|
|
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)
|
rs772690312
|
0.00002
|
|
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val)
|
rs774157225
|
0.00002
|
|
NM_213622.4(STAMBP):c.1270C>T (p.Arg424Ter)
|
rs397509390
|
0.00002
|
|
NM_213622.4(STAMBP):c.532C>T (p.Arg178Ter)
|
rs397509388
|
0.00002
|
|
NR_003051.3(RMRP):n.-20_1dupCTCTGTGAAGCTGAGGACGTG
|
rs1563907710
|
0.00002
|
|
NR_023343.3(RNU4ATAC):n.118T>C
|
rs863225423
|
0.00002
|
|
NR_033294.2(SNORD118):n.61A>G
|
rs750457525
|
0.00002
|
|
NC_000011.10:g.47335082_47335083del
|
rs397515990
|
0.00001
|
|
NC_000011.10:g.47335872C>T
|
rs398123280
|
0.00001
|
|
NC_000023.11:g.38352591C>A
|
rs749748052
|
0.00001
|
|
NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter)
|
rs796051896
|
0.00001
|
|
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)
|
rs1648832587
|
0.00001
|
|
NM_000016.6(ACADM):c.1046G>A (p.Arg349Gln)
|
rs760335676
|
0.00001
|
|
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)
|
rs766140986
|
0.00001
|
|
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)
|
rs1057516278
|
0.00001
|
|
NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr)
|
rs121434275
|
0.00001
|
|
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)
|
rs748110745
|
0.00001
|
|
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)
|
rs1337929727
|
0.00001
|
|
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)
|
rs753928772
|
0.00001
|
|
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)
|
rs398123075
|
0.00001
|
|
NM_000016.6(ACADM):c.30+2T>C
|
rs768596219
|
0.00001
|
|
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)
|
rs746136472
|
0.00001
|
|
NM_000016.6(ACADM):c.342_343dup (p.Gly115fs)
|
rs1647188440
|
0.00001
|
|
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)
|
rs875989859
|
0.00001
|
|
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)
|
rs121434283
|
0.00001
|
|
NM_000016.6(ACADM):c.388-3T>G
|
rs764942250
|
0.00001
|
|
NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)
|
rs1442356585
|
0.00001
|
|
NM_000016.6(ACADM):c.447G>A (p.Met149Ile)
|
rs121434277
|
0.00001
|
|
NM_000016.6(ACADM):c.447G>T (p.Met149Ile)
|
rs121434277
|
0.00001
|
|
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)
|
rs875989876
|
0.00001
|
|
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)
|
rs745844469
|
0.00001
|
|
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)
|
rs773677327
|
0.00001
|
|
NM_000016.6(ACADM):c.599+1G>A
|
rs866388216
|
0.00001
|
|
NM_000016.6(ACADM):c.599+2T>C
|
rs148260275
|
0.00001
|
|
NM_000016.6(ACADM):c.601del (p.Tyr201fs)
|
rs772650083
|
0.00001
|
|
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe)
|
rs751829413
|
0.00001
|
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
|
NM_000016.6(ACADM):c.708G>C (p.Lys236Asn)
|
rs1185026485
|
0.00001
|
|
NM_000016.6(ACADM):c.709-13A>G
|
rs746483754
|
0.00001
|
|
NM_000016.6(ACADM):c.709-1G>A
|
rs941714381
|
0.00001
|
|
NM_000016.6(ACADM):c.717C>G (p.Asn239Lys)
|
rs1348176225
|
0.00001
|
|
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)
|
rs373852490
|
0.00001
|
|
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)
|
rs121434281
|
0.00001
|
|
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser)
|
rs780504551
|
0.00001
|
|
NM_000016.6(ACADM):c.849+2T>C
|
rs780737237
|
0.00001
|
|
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
|
rs768452911
|
0.00001
|
|
NM_000016.6(ACADM):c.92G>A (p.Arg31His)
|
rs529894272
|
0.00001
|
|
NM_000016.6(ACADM):c.946-2A>C
|
rs758753966
|
0.00001
|
|
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)
|
rs387906950
|
0.00001
|
|
NM_000017.4(ACADS):c.1164_1165del (p.Glu389fs)
|
rs1057516421
|
0.00001
|
|
NM_000017.4(ACADS):c.2T>C (p.Met1Thr)
|
rs990322697
|
0.00001
|
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
|
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)
|
rs1351976589
|
0.00001
|
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
|
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)
|
rs758928307
|
0.00001
|
|
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)
|
rs118204015
|
0.00001
|
|
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)
|
rs1057523504
|
0.00001
|
|
NM_000018.4(ACADVL):c.1182+3G>T
|
rs376281637
|
0.00001
|
|
NM_000018.4(ACADVL):c.1183-15A>G
|
rs765390290
|
0.00001
|
|
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)
|
rs1451455641
|
0.00001
|
|
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)
|
rs1057516519
|
0.00001
|
|
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp)
|
rs533055438
|
0.00001
|
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
|
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)
|
rs794727113
|
0.00001
|
|
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)
|
rs794727112
|
0.00001
|
|
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)
|
rs1175359422
|
0.00001
|
|
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)
|
rs118204017
|
0.00001
|
|
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)
|
rs766742117
|
0.00001
|
|
NM_000018.4(ACADVL):c.138+1G>A
|
rs747351687
|
0.00001
|
|
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)
|
rs200366828
|
0.00001
|
|
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
|
rs113994170
|
0.00001
|
|
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)
|
rs398123083
|
0.00001
|
|
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)
|
rs759775666
|
0.00001
|
|
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)
|
rs771025937
|
0.00001
|
|
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)
|
rs200771970
|
0.00001
|
|
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)
|
rs1085307648
|
0.00001
|
|
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs)
|
rs1555529088
|
0.00001
|
|
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
|
NM_000018.4(ACADVL):c.343-1G>A
|
rs1555527877
|
0.00001
|
|
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)
|
rs1057520088
|
0.00001
|
|
NM_000018.4(ACADVL):c.406C>T (p.Leu136Phe)
|
rs1460246415
|
0.00001
|
|
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)
|
rs1057516369
|
0.00001
|
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
|
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)
|
rs763630981
|
0.00001
|
|
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)
|
rs371407903
|
0.00001
|
|
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)
|
rs398123090
|
0.00001
|
|
NM_000018.4(ACADVL):c.63-2A>C
|
rs1555527513
|
0.00001
|
|
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)
|
rs140629318
|
0.00001
|
|
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)
|
rs140629318
|
0.00001
|
|
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)
|
rs1432183079
|
0.00001
|
|
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)
|
rs746860401
|
0.00001
|
|
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly)
|
rs767063791
|
0.00001
|
|
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)
|
rs398123091
|
0.00001
|
|
NM_000018.4(ACADVL):c.694G>A (p.Ala232Thr)
|
rs746944448
|
0.00001
|
|
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)
|
rs749159573
|
0.00001
|
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
|
NM_000018.4(ACADVL):c.770del (p.Asp257fs)
|
rs2071264706
|
0.00001
|
|
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)
|
rs1197133430
|
0.00001
|
|
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)
|
rs202216257
|
0.00001
|
|
NM_000018.4(ACADVL):c.878+1G>C
|
rs757946752
|
0.00001
|
|
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)
|
rs200573371
|
0.00001
|
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
|
NM_000018.4(ACADVL):c.889_891del (p.Glu297del)
|
rs796051914
|
0.00001
|
|
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)
|
rs771247610
|
0.00001
|
|
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu)
|
rs201676770
|
0.00001
|
|
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)
|
rs1338023969
|
0.00001
|
|
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val)
|
rs120074143
|
0.00001
|
|
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)
|
rs748303093
|
0.00001
|
|
NM_000019.4(ACAT1):c.1163+1G>A
|
rs1423476705
|
0.00001
|
|
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)
|
rs1278227329
|
0.00001
|
|
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)
|
rs1591363760
|
0.00001
|
|
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)
|
rs120074148
|
0.00001
|
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
|
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)
|
rs541517496
|
0.00001
|
|
NM_000019.4(ACAT1):c.749del (p.Val250fs)
|
rs1565293957
|
0.00001
|
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
|
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
|
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)
|
rs120074147
|
0.00001
|
|
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)
|
rs1131691686
|
0.00001
|
|
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln)
|
rs1085307426
|
0.00001
|
|
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)
|
rs1085307405
|
0.00001
|
|
NM_000022.4(ADA):c.1A>G (p.Met1Val)
|
rs1363043396
|
0.00001
|
|
NM_000022.4(ADA):c.218+1G>A
|
rs528390681
|
0.00001
|
|
NM_000022.4(ADA):c.301C>T (p.Arg101Trp)
|
rs121908717
|
0.00001
|
|
NM_000022.4(ADA):c.350G>A (p.Trp117Ter)
|
rs749484894
|
0.00001
|
|
NM_000022.4(ADA):c.43C>G (p.His15Asp)
|
rs121908725
|
0.00001
|
|
NM_000022.4(ADA):c.466C>T (p.Arg156Cys)
|
rs121908735
|
0.00001
|
|
NM_000022.4(ADA):c.467G>A (p.Arg156His)
|
rs121908722
|
0.00001
|
|
NM_000022.4(ADA):c.536C>A (p.Ala179Asp)
|
rs121908727
|
0.00001
|
|
NM_000022.4(ADA):c.58G>A (p.Gly20Arg)
|
rs121908724
|
0.00001
|
|
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
|
rs121908740
|
0.00001
|
|
NM_000022.4(ADA):c.678+5G>C
|
rs763478578
|
0.00001
|
|
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)
|
rs778809577
|
0.00001
|
|
NM_000022.4(ADA):c.845+1G>C
|
rs766590645
|
0.00001
|
|
NM_000022.4(ADA):c.845G>A (p.Arg282Gln)
|
rs751635016
|
0.00001
|
|
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)
|
rs60407644
|
0.00001
|
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
|
NM_000023.4(SGCA):c.197T>A (p.Leu66His)
|
rs767928766
|
0.00001
|
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
|
NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)
|
rs1373671710
|
0.00001
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
0.00001
|
|
NM_000023.4(SGCA):c.313-2A>G
|
rs1057516650
|
0.00001
|
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
|
NM_000023.4(SGCA):c.489del (p.Leu164fs)
|
rs753650776
|
0.00001
|
|
NM_000023.4(SGCA):c.585-1G>A
|
rs1342189589
|
0.00001
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
0.00001
|
|
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys)
|
rs755492501
|
0.00001
|
|
NM_000026.4(ADSL):c.1187G>A (p.Arg396His)
|
rs763542069
|
0.00001
|
|
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)
|
rs777821034
|
0.00001
|
|
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)
|
rs771121666
|
0.00001
|
|
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)
|
rs1257907226
|
0.00001
|
|
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)
|
rs202064195
|
0.00001
|
|
NM_000027.4(AGA):c.1A>G (p.Met1Val)
|
rs1054938291
|
0.00001
|
|
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
|
rs1736926873
|
0.00001
|
|
NM_000027.4(AGA):c.395-8A>G
|
rs386833426
|
0.00001
|
|
NM_000027.4(AGA):c.473G>A (p.Trp158Ter)
|
rs745976989
|
0.00001
|
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
|
NM_000027.4(AGA):c.940+1G>T
|
rs386833437
|
0.00001
|
|
NM_000030.3(AGXT):c.1078C>T (p.Arg360Trp)
|
rs758493460
|
0.00001
|
|
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)
|
rs180177161
|
0.00001
|
|
NM_000030.3(AGXT):c.107G>A (p.Arg36His)
|
rs180177162
|
0.00001
|
|
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)
|
rs569643246
|
0.00001
|
|
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro)
|
rs180177165
|
0.00001
|
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
|
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)
|
rs180177168
|
0.00001
|
|
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile)
|
rs113879010
|
0.00001
|
|
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)
|
rs180177184
|
0.00001
|
|
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)
|
rs138584408
|
0.00001
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
0.00001
|
|
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)
|
rs180177203
|
0.00001
|
|
NM_000030.3(AGXT):c.595G>A (p.Gly199Ser)
|
rs796052062
|
0.00001
|
|
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)
|
rs786204545
|
0.00001
|
|
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)
|
rs180177264
|
0.00001
|
|
NM_000030.3(AGXT):c.777-1G>C
|
rs180177267
|
0.00001
|
|
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)
|
rs180177294
|
0.00001
|
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
|
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)
|
rs1557052417
|
0.00001
|
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
0.00001
|
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
|
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
|
rs1270747182
|
0.00001
|
|
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
|
rs528914024
|
0.00001
|
|
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)
|
rs370793608
|
0.00001
|
|
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter)
|
rs137852831
|
0.00001
|
|
NM_000038.6(APC):c.220+2T>A
|
rs587781809
|
0.00001
|
|
NM_000038.6(APC):c.5038C>T (p.Gln1680Ter)
|
rs754122018
|
0.00001
|
|
NM_000039.3(APOA1):c.296T>C (p.Leu99Pro)
|
rs372520221
|
0.00001
|
|
NM_000041.4(APOE):c.127C>T (p.Arg43Cys)
|
rs121918399
|
0.00001
|
|
NM_000044.6(AR):c.2270A>G (p.Asn757Ser)
|
rs141425171
|
0.00001
|
|
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)
|
rs753829097
|
0.00001
|
|
NM_000045.4(ARG1):c.370G>T (p.Asp124Tyr)
|
rs1773910245
|
0.00001
|
|
NM_000045.4(ARG1):c.372dup (p.Ala125fs)
|
rs776939220
|
0.00001
|
|
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)
|
rs767219084
|
0.00001
|
|
NM_000045.4(ARG1):c.57+1G>A
|
rs587776539
|
0.00001
|
|
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)
|
rs104893948
|
0.00001
|
|
NM_000046.5(ARSB):c.1336+1G>A
|
rs376233975
|
0.00001
|
|
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)
|
rs555785323
|
0.00001
|
|
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter)
|
rs200188234
|
0.00001
|
|
NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter)
|
rs1234650208
|
0.00001
|
|
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)
|
rs1064793027
|
0.00001
|
|
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)
|
rs397514441
|
0.00001
|
|
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
|
rs749465732
|
0.00001
|
|
NM_000046.5(ARSB):c.245del (p.Leu82fs)
|
rs750845916
|
0.00001
|
|
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)
|
rs118203942
|
0.00001
|
|
NM_000046.5(ARSB):c.328C>T (p.Gln110Ter)
|
rs1554088099
|
0.00001
|
|
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg)
|
rs118203939
|
0.00001
|
|
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)
|
rs746206847
|
0.00001
|
|
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)
|
rs1196325597
|
0.00001
|
|
NM_000046.5(ARSB):c.691-1G>A
|
rs778868348
|
0.00001
|
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
|
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)
|
rs764546937
|
0.00001
|
|
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp)
|
rs727503812
|
0.00001
|
|
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)
|
rs757109353
|
0.00001
|
|
NM_000048.4(ASL):c.1300G>T (p.Val434Leu)
|
rs773071023
|
0.00001
|
|
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)
|
rs869312985
|
0.00001
|
|
NM_000048.4(ASL):c.260A>G (p.Asp87Gly)
|
rs752100894
|
0.00001
|
|
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)
|
rs374304304
|
0.00001
|
|
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)
|
rs28940585
|
0.00001
|
|
NM_000048.4(ASL):c.292G>T (p.Glu98Ter)
|
rs770375565
|
0.00001
|
|
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)
|
rs138310841
|
0.00001
|
|
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)
|
rs561367199
|
0.00001
|
|
NM_000048.4(ASL):c.349-1G>A
|
rs1395478201
|
0.00001
|
|
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)
|
rs796051931
|
0.00001
|
|
NM_000048.4(ASL):c.446+2T>C
|
rs1268519003
|
0.00001
|
|
NM_000048.4(ASL):c.446C>T (p.Ala149Val)
|
rs777288665
|
0.00001
|
|
NM_000048.4(ASL):c.467C>T (p.Pro156Leu)
|
rs769017508
|
0.00001
|
|
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)
|
rs751590073
|
0.00001
|
|
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)
|
rs756363516
|
0.00001
|
|
NM_000048.4(ASL):c.602+1G>A
|
rs398123127
|
0.00001
|
|
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)
|
rs764602422
|
0.00001
|
|
NM_000048.4(ASL):c.722A>C (p.Glu241Ala)
|
rs924321091
|
0.00001
|
|
NM_000048.4(ASL):c.740C>T (p.Ser247Leu)
|
rs1405344068
|
0.00001
|
|
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)
|
rs754995756
|
0.00001
|
|
NM_000048.4(ASL):c.978G>C (p.Gln326His)
|
rs764356037
|
0.00001
|
|
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
|
rs779440632
|
0.00001
|
|
NM_000049.4(ASPA):c.2T>C (p.Met1Thr)
|
rs1057516879
|
0.00001
|
|
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu)
|
rs1057521115
|
0.00001
|
|
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr)
|
rs769653717
|
0.00001
|
|
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys)
|
rs937670540
|
0.00001
|
|
NM_000049.4(ASPA):c.503G>A (p.Arg168His)
|
rs770706390
|
0.00001
|
|
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)
|
rs786204572
|
0.00001
|
|
NM_000049.4(ASPA):c.634+1G>T
|
rs753871454
|
0.00001
|
|
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)
|
rs774323189
|
0.00001
|
|
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)
|
rs1555069617
|
0.00001
|
|
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)
|
rs747563556
|
0.00001
|
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
|
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)
|
rs1555070980
|
0.00001
|
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
0.00001
|
|
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)
|
rs777849257
|
0.00001
|
|
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)
|
rs779004090
|
0.00001
|
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
|
NM_000051.4(ATM):c.2467-2A>C
|
rs1555082050
|
0.00001
|
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
|
NM_000051.4(ATM):c.3077+1G>T
|
rs192810283
|
0.00001
|
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
0.00001
|
|
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)
|
rs568461905
|
0.00001
|
|
NM_000051.4(ATM):c.3154-2A>G
|
rs730881357
|
0.00001
|
|
NM_000051.4(ATM):c.332-1G>A
|
rs747855862
|
0.00001
|
|
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)
|
rs587779833
|
0.00001
|
|
NM_000051.4(ATM):c.3432G>A (p.Leu1144=)
|
rs1060501625
|
0.00001
|
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
|
NM_000051.4(ATM):c.3993+1G>A
|
rs200196781
|
0.00001
|
|
NM_000051.4(ATM):c.3G>A (p.Met1Ile)
|
rs781404312
|
0.00001
|
|
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)
|
rs1057520640
|
0.00001
|
|
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)
|
rs771887195
|
0.00001
|
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
|
NM_000051.4(ATM):c.5178-2A>G
|
rs2135911500
|
0.00001
|
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
|
NM_000051.4(ATM):c.5203dup (p.Thr1735fs)
|
rs878853518
|
0.00001
|
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
0.00001
|
|
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)
|
rs1214541502
|
0.00001
|
|
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)
|
rs786204751
|
0.00001
|
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
|
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)
|
rs876658740
|
0.00001
|
|
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)
|
rs730881394
|
0.00001
|
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
0.00001
|
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
|
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
|
rs1348587218
|
0.00001
|
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
|
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
|
NM_000051.4(ATM):c.6997dup
|
rs587781299
|
0.00001
|
|
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)
|
rs1131691162
|
0.00001
|
|
NM_000051.4(ATM):c.72+1G>A
|
rs786204088
|
0.00001
|
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
|
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)
|
rs587779865
|
0.00001
|
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
|
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)
|
rs557012154
|
0.00001
|
|
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)
|
rs371638537
|
0.00001
|
|
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)
|
rs748634900
|
0.00001
|
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
|
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)
|
rs778269655
|
0.00001
|
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
|
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)
|
rs587781597
|
0.00001
|
|
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)
|
rs587778080
|
0.00001
|
|
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro)
|
rs587782202
|
0.00001
|
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
|
NM_000051.4(ATM):c.8584+2T>C
|
rs730881326
|
0.00001
|
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
|
NM_000051.4(ATM):c.8786+1G>T
|
rs17174393
|
0.00001
|
|
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)
|
rs758814126
|
0.00001
|
|
NM_000051.4(ATM):c.8988-1G>C
|
rs730881386
|
0.00001
|
|
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)
|
rs587781698
|
0.00001
|
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
|
NM_000053.4(ATP7B):c.104_105insT (p.Lys35fs)
|
rs1316032472
|
0.00001
|
|
NM_000053.4(ATP7B):c.1285+2T>A
|
rs759749626
|
0.00001
|
|
NM_000053.4(ATP7B):c.1708-5T>G
|
rs770829226
|
0.00001
|
|
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)
|
rs797045402
|
0.00001
|
|
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)
|
rs374172791
|
0.00001
|
|
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)
|
rs752850609
|
0.00001
|
|
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)
|
rs72552285
|
0.00001
|
|
NM_000053.4(ATP7B):c.1946+6T>C
|
rs751287778
|
0.00001
|
|
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)
|
rs372436901
|
0.00001
|
|
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter)
|
rs1474837260
|
0.00001
|
|
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr)
|
rs767218895
|
0.00001
|
|
NM_000053.4(ATP7B):c.2122-1G>C
|
rs1319653818
|
0.00001
|
|
NM_000053.4(ATP7B):c.2122-8T>G
|
rs193922102
|
0.00001
|
|
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)
|
rs1394999756
|
0.00001
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
0.00001
|
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
|
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)
|
rs28942075
|
0.00001
|
|
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly)
|
rs1555291147
|
0.00001
|
|
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)
|
rs121907997
|
0.00001
|
|
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly)
|
rs751798708
|
0.00001
|
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
|
NM_000053.4(ATP7B):c.2407G>A (p.Ala803Thr)
|
rs1409618843
|
0.00001
|
|
NM_000053.4(ATP7B):c.2447+1G>A
|
rs1958431105
|
0.00001
|
|
NM_000053.4(ATP7B):c.2512A>G (p.Lys838Glu)
|
rs748113748
|
0.00001
|
|
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)
|
rs777629392
|
0.00001
|
|
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val)
|
rs786204643
|
0.00001
|
|
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)
|
rs1057520235
|
0.00001
|
|
NM_000053.4(ATP7B):c.2575+1G>C
|
rs766149114
|
0.00001
|
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
|
NM_000053.4(ATP7B):c.2730+1G>A
|
rs1057516425
|
0.00001
|
|
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn)
|
rs1230241288
|
0.00001
|
|
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)
|
rs28942076
|
0.00001
|
|
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)
|
rs778163447
|
0.00001
|
|
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr)
|
rs1038582488
|
0.00001
|
|
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)
|
rs201038679
|
0.00001
|
|
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)
|
rs751078884
|
0.00001
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
0.00001
|
|
NM_000053.4(ATP7B):c.3060+5G>T
|
rs1353373400
|
0.00001
|
|
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)
|
rs886043423
|
0.00001
|
|
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)
|
rs1412025509
|
0.00001
|
|
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)
|
rs1395504465
|
0.00001
|
|
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)
|
rs587783309
|
0.00001
|
|
NM_000053.4(ATP7B):c.3243+1G>A
|
rs748819198
|
0.00001
|
|
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)
|
rs753250853
|
0.00001
|
|
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)
|
rs761632029
|
0.00001
|
|
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)
|
rs560952220
|
0.00001
|
|
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)
|
rs774221179
|
0.00001
|
|
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)
|
rs1387431334
|
0.00001
|
|
NM_000053.4(ATP7B):c.3547_3548del (p.Ala1183fs)
|
rs765139243
|
0.00001
|
|
NM_000053.4(ATP7B):c.3556+1G>A
|
rs184388696
|
0.00001
|
|
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)
|
rs786204547
|
0.00001
|
|
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)
|
rs767464491
|
0.00001
|
|
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)
|
rs769484789
|
0.00001
|
|
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)
|
rs776300396
|
0.00001
|
|
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)
|
rs377144951
|
0.00001
|
|
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)
|
rs1033235740
|
0.00001
|
|
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)
|
rs587783317
|
0.00001
|
|
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)
|
rs779494870
|
0.00001
|
|
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)
|
rs193922110
|
0.00001
|
|
NM_000053.4(ATP7B):c.4075A>G (p.Met1359Val)
|
rs1956914257
|
0.00001
|
|
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)
|
rs1555282316
|
0.00001
|
|
NM_000053.4(ATP7B):c.4309A>T (p.Lys1437Ter)
|
rs768833241
|
0.00001
|
|
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs)
|
rs1345677703
|
0.00001
|
|
NM_000053.4(ATP7B):c.44del (p.Ser15fs)
|
rs1192728612
|
0.00001
|
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
|
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter)
|
rs1412593296
|
0.00001
|
|
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)
|
rs121918557
|
0.00001
|
|
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys)
|
rs745364489
|
0.00001
|
|
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter)
|
rs369583279
|
0.00001
|
|
NM_000057.4(BLM):c.1154del (p.Thr385fs)
|
rs1409782833
|
0.00001
|
|
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
|
rs1057516964
|
0.00001
|
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
|
rs754203833
|
0.00001
|
|
NM_000057.4(BLM):c.1968dup (p.Lys657fs)
|
rs772785079
|
0.00001
|
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
|
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)
|
rs1400231534
|
0.00001
|
|
NM_000057.4(BLM):c.2488dup (p.Thr830fs)
|
rs367543019
|
0.00001
|
|
NM_000057.4(BLM):c.3020-258A>G
|
rs1301751251
|
0.00001
|
|
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)
|
rs1555423753
|
0.00001
|
|
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter)
|
rs1472603091
|
0.00001
|
|
NM_000057.4(BLM):c.3305_3306del (p.His1102fs)
|
rs1057516253
|
0.00001
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
0.00001
|
|
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)
|
rs1057517154
|
0.00001
|
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
|
NM_000057.4(BLM):c.511dup (p.Thr171fs)
|
rs2505392993
|
0.00001
|
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
|
NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter)
|
rs80358631
|
0.00001
|
|
NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)
|
rs879255309
|
0.00001
|
|
NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)
|
rs80358648
|
0.00001
|
|
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)
|
rs80358650
|
0.00001
|
|
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs)
|
rs1162394508
|
0.00001
|
|
NM_000059.4(BRCA2):c.4039_4043del (p.Val1347fs)
|
rs1370021869
|
0.00001
|
|
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)
|
rs397507713
|
0.00001
|
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
0.00001
|
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
|
NM_000059.4(BRCA2):c.632-3C>G
|
rs568027879
|
0.00001
|
|
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter)
|
rs876661261
|
0.00001
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
0.00001
|
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
0.00001
|
|
NM_000059.4(BRCA2):c.793+1G>A
|
rs81002846
|
0.00001
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
0.00001
|
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
|
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro)
|
rs80359045
|
0.00001
|
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
rs80359064
|
0.00001
|
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
|
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)
|
rs80359082
|
0.00001
|
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
|
NM_000059.4(BRCA2):c.880G>T (p.Glu294Ter)
|
rs397508009
|
0.00001
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
0.00001
|
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
|
NM_000059.4(BRCA2):c.9501+1G>A
|
rs397508058
|
0.00001
|
|
NM_000059.4(BRCA2):c.9648+1G>C
|
rs730881573
|
0.00001
|
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
|
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)
|
rs730881619
|
0.00001
|
|
NM_000066.4(C8B):c.1524C>A (p.Cys508Ter)
|
rs1176902020
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter)
|
rs767052156
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)
|
rs770073633
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter)
|
rs367983954
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3414+3A>T
|
rs892742196
|
0.00001
|
|
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)
|
rs201998231
|
0.00001
|
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
|
NM_000070.3(CAPN3):c.1194-9A>G
|
rs374665929
|
0.00001
|
|
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys)
|
rs777483913
|
0.00001
|
|
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)
|
rs777323132
|
0.00001
|
|
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
|
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)
|
rs863224956
|
0.00001
|
|
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)
|
rs1274808359
|
0.00001
|
|
NM_000070.3(CAPN3):c.1448C>A (p.Ala483Asp)
|
rs781723572
|
0.00001
|
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
|
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)
|
rs863224957
|
0.00001
|
|
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)
|
rs863224958
|
0.00001
|
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
|
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)
|
rs398123143
|
0.00001
|
|
NM_000070.3(CAPN3):c.1722del (p.Ser575fs)
|
rs1366387924
|
0.00001
|
|
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys)
|
rs764370512
|
0.00001
|
|
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)
|
rs886042557
|
0.00001
|
|
NM_000070.3(CAPN3):c.2185-2A>G
|
rs886041335
|
0.00001
|
|
NM_000070.3(CAPN3):c.2290del (p.Asp764fs)
|
rs886044527
|
0.00001
|
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
|
NM_000070.3(CAPN3):c.2440-1G>A
|
rs886044052
|
0.00001
|
|
NM_000070.3(CAPN3):c.379+3A>G
|
rs1164215001
|
0.00001
|
|
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys)
|
rs1555420468
|
0.00001
|
|
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)
|
rs773001194
|
0.00001
|
|
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)
|
rs1345121557
|
0.00001
|
|
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr)
|
rs1555420652
|
0.00001
|
|
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu)
|
rs121434547
|
0.00001
|
|
NM_000071.3(CBS):c.1007G>A (p.Arg336His)
|
rs760417941
|
0.00001
|
|
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)
|
rs757920190
|
0.00001
|
|
NM_000071.3(CBS):c.1111G>A (p.Val371Met)
|
rs372010465
|
0.00001
|
|
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)
|
rs763036586
|
0.00001
|
|
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)
|
rs121964971
|
0.00001
|
|
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)
|
rs1347662650
|
0.00001
|
|
NM_000071.3(CBS):c.28del (p.Val10fs)
|
rs779250698
|
0.00001
|
|
NM_000071.3(CBS):c.371_374dup (p.Met126fs)
|
rs755625628
|
0.00001
|
|
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)
|
rs886057100
|
0.00001
|
|
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)
|
rs755952006
|
0.00001
|
|
NM_000071.3(CBS):c.473C>T (p.Ala158Val)
|
rs1376851289
|
0.00001
|
|
NM_000071.3(CBS):c.684C>G (p.Asn228Lys)
|
rs1464223176
|
0.00001
|
|
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)
|
rs121964969
|
0.00001
|
|
NM_000071.3(CBS):c.828+1G>A
|
rs763290176
|
0.00001
|
|
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)
|
rs758447354
|
0.00001
|
|
NM_000077.5(CDKN2A):c.104G>C (p.Gly35Ala)
|
rs746834149
|
0.00001
|
|
NM_000077.5(CDKN2A):c.458-105A>G
|
rs1060501266
|
0.00001
|
|
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)
|
rs104894097
|
0.00001
|
|
NM_000077.5(CDKN2A):c.95T>C (p.Leu32Pro)
|
rs878853650
|
0.00001
|
|
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)
|
rs374391312
|
0.00001
|
|
NM_000080.4(CHRNE):c.1033-1G>C
|
rs755303686
|
0.00001
|
|
NM_000080.4(CHRNE):c.1052C>T (p.Pro351Leu)
|
rs1168592296
|
0.00001
|
|
NM_000080.4(CHRNE):c.1164del (p.Lys388fs)
|
rs1222065184
|
0.00001
|
|
NM_000080.4(CHRNE):c.1220-1G>A
|
rs373710822
|
0.00001
|
|
NM_000080.4(CHRNE):c.1220-2A>G
|
rs1309292778
|
0.00001
|
|
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter)
|
rs918839874
|
0.00001
|
|
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)
|
rs776927709
|
0.00001
|
|
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)
|
rs28929768
|
0.00001
|
|
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)
|
rs372635387
|
0.00001
|
|
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)
|
rs121909514
|
0.00001
|
|
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)
|
rs758687208
|
0.00001
|
|
NM_000080.4(CHRNE):c.934_936del (p.Met312del)
|
rs1555546465
|
0.00001
|
|
NM_000081.4(LYST):c.10883dup (p.Tyr3628Ter)
|
rs1238562877
|
0.00001
|
|
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter)
|
rs80338652
|
0.00001
|
|
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
|
rs1188244229
|
0.00001
|
|
NM_000081.4(LYST):c.8358+2T>C
|
rs1157079200
|
0.00001
|
|
NM_000081.4(LYST):c.9838C>T (p.Arg3280Ter)
|
rs201694319
|
0.00001
|
|
NM_000082.4(ERCC8):c.1042-1G>A
|
rs897535441
|
0.00001
|
|
NM_000082.4(ERCC8):c.173+1G>A
|
rs1476095782
|
0.00001
|
|
NM_000082.4(ERCC8):c.174C>A (p.Tyr58Ter)
|
rs530679736
|
0.00001
|
|
NM_000082.4(ERCC8):c.350C>A (p.Ser117Ter)
|
rs545036754
|
0.00001
|
|
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)
|
rs121434325
|
0.00001
|
|
NM_000082.4(ERCC8):c.618-1G>A
|
rs201464610
|
0.00001
|
|
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly)
|
rs281875225
|
0.00001
|
|
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)
|
rs759761559
|
0.00001
|
|
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)
|
rs767000881
|
0.00001
|
|
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys)
|
rs756981034
|
0.00001
|
|
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His)
|
rs780834658
|
0.00001
|
|
NM_000083.3(CLCN1):c.1401+1G>T
|
rs769861892
|
0.00001
|
|
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg)
|
rs746125212
|
0.00001
|
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
0.00001
|
|
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys)
|
rs546411827
|
0.00001
|
|
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn)
|
rs80356697
|
0.00001
|
|
NM_000083.3(CLCN1):c.1930+1G>A
|
rs771002652
|
0.00001
|
|
NM_000083.3(CLCN1):c.302-1G>A
|
rs529377088
|
0.00001
|
|
NM_000083.3(CLCN1):c.302-2A>C
|
rs762272849
|
0.00001
|
|
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)
|
rs748639603
|
0.00001
|
|
NM_000083.3(CLCN1):c.774G>A (p.Glu258=)
|
rs770605959
|
0.00001
|
|
NM_000083.3(CLCN1):c.782A>G (p.Tyr261Cys)
|
rs200621976
|
0.00001
|
|
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)
|
rs121912805
|
0.00001
|
|
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)
|
rs202179484
|
0.00001
|
|
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)
|
rs80356692
|
0.00001
|
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
|
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)
|
rs1478129213
|
0.00001
|
|
NM_000085.5(CLCNKB):c.1929+1G>A
|
rs1191726071
|
0.00001
|
|
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer)
|
rs779593707
|
0.00001
|
|
NM_000089.4(COL1A2):c.1522G>A (p.Gly508Ser)
|
rs769600024
|
0.00001
|
|
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)
|
rs72659306
|
0.00001
|
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
|
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)
|
rs1054264002
|
0.00001
|
|
NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp)
|
rs553203474
|
0.00001
|
|
NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser)
|
rs794728054
|
0.00001
|
|
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser)
|
rs1223008559
|
0.00001
|
|
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)
|
rs757341933
|
0.00001
|
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00001
|
|
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)
|
rs773515249
|
0.00001
|
|
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)
|
rs200672668
|
0.00001
|
|
NM_000091.5(COL4A3):c.1A>C (p.Met1Leu)
|
rs1396602090
|
0.00001
|
|
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)
|
rs1060499654
|
0.00001
|
|
NM_000091.5(COL4A3):c.272G>A (p.Gly91Asp)
|
rs1414411811
|
0.00001
|
|
NM_000091.5(COL4A3):c.3250G>T (p.Glu1084Ter)
|
rs1192750535
|
0.00001
|
|
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)
|
rs202147112
|
0.00001
|
|
NM_000091.5(COL4A3):c.3472G>C (p.Gly1158Arg)
|
rs914878176
|
0.00001
|
|
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)
|
rs267606745
|
0.00001
|
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
|
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter)
|
rs769863513
|
0.00001
|
|
NM_000091.5(COL4A3):c.4755+1G>A
|
rs1346132592
|
0.00001
|
|
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
|
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)
|
rs869025328
|
0.00001
|
|
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs)
|
rs756133651
|
0.00001
|
|
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)
|
rs534522842
|
0.00001
|
|
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)
|
rs755649235
|
0.00001
|
|
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg)
|
rs201859109
|
0.00001
|
|
NM_000092.5(COL4A4):c.1405G>T (p.Gly469Ter)
|
rs926605269
|
0.00001
|
|
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)
|
rs181528936
|
0.00001
|
|
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys)
|
rs779930511
|
0.00001
|
|
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg)
|
rs1241404192
|
0.00001
|
|
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)
|
rs121912860
|
0.00001
|
|
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg)
|
rs749299357
|
0.00001
|
|
NM_000092.5(COL4A4):c.3791G>T (p.Gly1264Val)
|
rs371915593
|
0.00001
|
|
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs)
|
rs1162601696
|
0.00001
|
|
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
|
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr)
|
rs1962651394
|
0.00001
|
|
NM_000092.5(COL4A4):c.489+1G>A
|
rs1040287646
|
0.00001
|
|
NM_000092.5(COL4A4):c.559-2A>G
|
rs766243664
|
0.00001
|
|
NM_000092.5(COL4A4):c.675dup (p.Gly226fs)
|
rs1553688335
|
0.00001
|
|
NM_000092.5(COL4A4):c.735+2T>C
|
rs2060993180
|
0.00001
|
|
NM_000094.4(COL7A1):c.4448G>A (p.Gly1483Asp)
|
rs756217590
|
0.00001
|
|
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu)
|
rs121912845
|
0.00001
|
|
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)
|
rs746053763
|
0.00001
|
|
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp)
|
rs1032335328
|
0.00001
|
|
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)
|
rs121912855
|
0.00001
|
|
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter)
|
rs765027608
|
0.00001
|
|
NM_000094.4(COL7A1):c.7485+5G>A
|
rs988031901
|
0.00001
|
|
NM_000094.4(COL7A1):c.7865G>A (p.Arg2622Gln)
|
rs368529673
|
0.00001
|
|
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys)
|
rs121912828
|
0.00001
|
|
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)
|
rs74315295
|
0.00001
|
|
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys)
|
rs778743524
|
0.00001
|
|
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)
|
rs74315296
|
0.00001
|
|
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs)
|
rs767004984
|
0.00001
|
|
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)
|
rs908749525
|
0.00001
|
|
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter)
|
rs1374482155
|
0.00001
|
|
NM_000098.3(CPT2):c.341-2A>G
|
rs752468216
|
0.00001
|
|
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)
|
rs201065226
|
0.00001
|
|
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)
|
rs515726177
|
0.00001
|
|
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp)
|
rs756839691
|
0.00001
|
|
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)
|
rs28936674
|
0.00001
|
|
NM_000098.3(CPT2):c.75del (p.Ser26fs)
|
rs1057517493
|
0.00001
|
|
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)
|
rs545986367
|
0.00001
|
|
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs)
|
rs1044894207
|
0.00001
|
|
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg)
|
rs28941476
|
0.00001
|
|
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln)
|
rs104894139
|
0.00001
|
|
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)
|
rs752811843
|
0.00001
|
|
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=)
|
rs769188557
|
0.00001
|
|
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro)
|
rs104894135
|
0.00001
|
|
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln)
|
rs80051519
|
0.00001
|
|
NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys)
|
rs121434536
|
0.00001
|
|
NM_000103.4(CYP19A1):c.200G>A (p.Trp67Ter)
|
rs371981915
|
0.00001
|
|
NM_000104.4(CYP1B1):c.840C>A (p.Cys280Ter)
|
rs778202993
|
0.00001
|
|
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)
|
rs121964988
|
0.00001
|
|
NM_000108.5(DLD):c.214A>G (p.Lys72Glu)
|
rs121964987
|
0.00001
|
|
NM_000108.5(DLD):c.803_804del (p.Gln268fs)
|
rs764611160
|
0.00001
|
|
NM_000108.5(DLD):c.875+1G>A
|
rs1328820332
|
0.00001
|
|
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)
|
rs748682601
|
0.00001
|
|
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer)
|
rs1207177925
|
0.00001
|
|
NM_000110.4(DPYD):c.321+1G>A
|
rs746368304
|
0.00001
|
|
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter)
|
rs72549310
|
0.00001
|
|
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter)
|
rs146170505
|
0.00001
|
|
NM_000111.3(SLC26A3):c.269_270dup (p.Gly91fs)
|
rs386833476
|
0.00001
|
|
NM_000111.3(SLC26A3):c.344del (p.Ile115fs)
|
rs386833478
|
0.00001
|
|
NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter)
|
rs1326271684
|
0.00001
|
|
NM_000112.4(SLC26A2):c.145del (p.Arg49fs)
|
rs1265764649
|
0.00001
|
|
NM_000112.4(SLC26A2):c.1950del (p.Ile651fs)
|
rs774648833
|
0.00001
|
|
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)
|
rs1554095397
|
0.00001
|
|
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter)
|
rs1302552127
|
0.00001
|
|
NM_000122.2(ERCC3):c.1735del (p.Tyr579fs)
|
rs1466213230
|
0.00001
|
|
NM_000123.4(ERCC5):c.205C>T (p.Arg69Ter)
|
rs1882232971
|
0.00001
|
|
NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg)
|
rs899478069
|
0.00001
|
|
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)
|
rs751292948
|
0.00001
|
|
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs)
|
rs774791374
|
0.00001
|
|
NM_000124.4(ERCC6):c.2170-1G>A
|
rs1310452605
|
0.00001
|
|
NM_000124.4(ERCC6):c.355G>T (p.Glu119Ter)
|
rs1554794590
|
0.00001
|
|
NM_000124.4(ERCC6):c.544-1G>A
|
rs901360414
|
0.00001
|
|
NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter)
|
rs999171980
|
0.00001
|
|
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)
|
rs119458969
|
0.00001
|
|
NM_000126.4(ETFA):c.625del (p.Arg209fs)
|
rs1209473816
|
0.00001
|
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00001
|
|
NM_000128.4(F11):c.1021G>A (p.Glu341Lys)
|
rs281875270
|
0.00001
|
|
NM_000128.4(F11):c.1026G>T (p.Gly342=)
|
rs768894507
|
0.00001
|
|
NM_000128.4(F11):c.1060G>A (p.Gly354Arg)
|
rs777714867
|
0.00001
|
|
NM_000128.4(F11):c.1186C>T (p.Arg396Cys)
|
rs771896253
|
0.00001
|
|
NM_000128.4(F11):c.1207G>A (p.Val403Met)
|
rs281875266
|
0.00001
|
|
NM_000128.4(F11):c.1234C>T (p.Gln412Ter)
|
rs538083600
|
0.00001
|
|
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr)
|
rs779802284
|
0.00001
|
|
NM_000128.4(F11):c.1253G>T (p.Gly418Val)
|
rs121965071
|
0.00001
|
|
NM_000128.4(F11):c.1313C>A (p.Ser438Ter)
|
rs786204724
|
0.00001
|
|
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)
|
rs542967227
|
0.00001
|
|
NM_000128.4(F11):c.1556G>A (p.Trp519Ter)
|
rs201007090
|
0.00001
|
|
NM_000128.4(F11):c.166T>C (p.Cys56Arg)
|
rs121965069
|
0.00001
|
|
NM_000128.4(F11):c.1693G>A (p.Glu565Lys)
|
rs281875275
|
0.00001
|
|
NM_000128.4(F11):c.365G>A (p.Gly122Asp)
|
rs369650561
|
0.00001
|
|
NM_000128.4(F11):c.3G>T (p.Met1Ile)
|
rs755700350
|
0.00001
|
|
NM_000128.4(F11):c.595+3A>G
|
rs933333847
|
0.00001
|
|
NM_000128.4(F11):c.599G>A (p.Cys200Tyr)
|
rs757817254
|
0.00001
|
|
NM_000128.4(F11):c.67C>T (p.Gln23Ter)
|
rs768409400
|
0.00001
|
|
NM_000128.4(F11):c.728C>T (p.Ser243Phe)
|
rs1262002209
|
0.00001
|
|
NM_000128.4(F11):c.755+2T>C
|
rs1220869989
|
0.00001
|
|
NM_000128.4(F11):c.965C>T (p.Thr322Ile)
|
rs281875269
|
0.00001
|
|
NM_000130.5(F5):c.2862del (p.Ser955fs)
|
rs765982916
|
0.00001
|
|
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
|
rs767477438
|
0.00001
|
|
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys)
|
rs118203910
|
0.00001
|
|
NM_000131.4(F7):c.-61T>G
|
rs1367115848
|
0.00001
|
|
NM_000132.4(F8):c.1569G>T (p.Leu523=)
|
rs782733685
|
0.00001
|
|
NM_000132.4(F8):c.1648C>T (p.Arg550Cys)
|
rs137852417
|
0.00001
|
|
NM_000132.4(F8):c.1649G>A (p.Arg550His)
|
rs137852418
|
0.00001
|
|
NM_000132.4(F8):c.1660A>G (p.Ser554Gly)
|
rs137852419
|
0.00001
|
|
NM_000132.4(F8):c.493C>T (p.Pro165Ser)
|
rs137852393
|
0.00001
|
|
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys)
|
rs1046670041
|
0.00001
|
|
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)
|
rs1490417405
|
0.00001
|
|
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys)
|
rs137852459
|
0.00001
|
|
NM_000132.4(F8):c.6533G>A (p.Arg2178His)
|
rs137852465
|
0.00001
|
|
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu)
|
rs1472169963
|
0.00001
|
|
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)
|
rs782198570
|
0.00001
|
|
NM_000132.4(F8):c.6658G>C (p.Ala2220Pro)
|
rs782548763
|
0.00001
|
|
NM_000132.4(F8):c.6932C>A (p.Pro2311His)
|
rs1047644991
|
0.00001
|
|
NM_000132.4(F8):c.6955C>T (p.Pro2319Ser)
|
rs137852374
|
0.00001
|
|
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys)
|
rs137852473
|
0.00001
|
|
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)
|
rs137852360
|
0.00001
|
|
NM_000132.4(F8):c.940A>G (p.Thr314Ala)
|
rs137852406
|
0.00001
|
|
NM_000132.4(F8):c.979C>G (p.Leu327Val)
|
rs1603435395
|
0.00001
|
|
NM_000133.4(F9):c.1024A>G (p.Thr342Ala)
|
rs1603267362
|
0.00001
|
|
NM_000133.4(F9):c.1174A>G (p.Asn392Asp)
|
rs1603267412
|
0.00001
|
|
NM_000133.4(F9):c.571C>T (p.Arg191Cys)
|
rs137852237
|
0.00001
|
|
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)
|
rs1280130060
|
0.00001
|
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
|
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)
|
rs1266348463
|
0.00001
|
|
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)
|
rs757504102
|
0.00001
|
|
NM_000135.4(FANCA):c.1776+1G>A
|
rs756140957
|
0.00001
|
|
NM_000135.4(FANCA):c.189+1G>T
|
rs891323617
|
0.00001
|
|
NM_000135.4(FANCA):c.1944del (p.Glu648fs)
|
rs1555549451
|
0.00001
|
|
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)
|
rs1448463647
|
0.00001
|
|
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs)
|
rs754104046
|
0.00001
|
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
|
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)
|
rs1173704265
|
0.00001
|
|
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)
|
rs752160950
|
0.00001
|
|
NM_000135.4(FANCA):c.2601+1G>T
|
rs1188581065
|
0.00001
|
|
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)
|
rs780825099
|
0.00001
|
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
|
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)
|
rs191943709
|
0.00001
|
|
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)
|
rs1429943036
|
0.00001
|
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
|
NM_000135.4(FANCA):c.3766-2A>G
|
rs1219402916
|
0.00001
|
|
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)
|
rs986710868
|
0.00001
|
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
|
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)
|
rs940187828
|
0.00001
|
|
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
|
NM_000135.4(FANCA):c.597-1G>C
|
rs147945881
|
0.00001
|
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
|
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)
|
rs372163487
|
0.00001
|
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
|
NM_000135.4(FANCA):c.894-2A>G
|
rs976556567
|
0.00001
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
0.00001
|
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
|
NM_000136.3(FANCC):c.108_109dup (p.His37fs)
|
rs1057517131
|
0.00001
|
|
NM_000136.3(FANCC):c.1155-1G>C
|
rs1554829575
|
0.00001
|
|
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)
|
rs944083227
|
0.00001
|
|
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)
|
rs1410356625
|
0.00001
|
|
NM_000136.3(FANCC):c.1533+1G>C
|
rs753885687
|
0.00001
|
|
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)
|
rs867319477
|
0.00001
|
|
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)
|
rs1057516291
|
0.00001
|
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
|
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)
|
rs769039987
|
0.00001
|
|
NM_000136.3(FANCC):c.844-1G>C
|
rs774209201
|
0.00001
|
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
|
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)
|
rs779040832
|
0.00001
|
|
NM_000137.4(FAH):c.315-3C>G
|
rs1171235203
|
0.00001
|
|
NM_000137.4(FAH):c.438del (p.Asn146fs)
|
rs779642226
|
0.00001
|
|
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)
|
rs781496816
|
0.00001
|
|
NM_000137.4(FAH):c.548_553+20del
|
rs768180953
|
0.00001
|
|
NM_000137.4(FAH):c.697G>A (p.Asp233Asn)
|
rs144902834
|
0.00001
|
|
NM_000137.4(FAH):c.742G>A (p.Gly248Arg)
|
rs774861939
|
0.00001
|
|
NM_000137.4(FAH):c.836A>G (p.Gln279Arg)
|
rs121965078
|
0.00001
|
|
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)
|
rs886044640
|
0.00001
|
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
|
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)
|
rs397514558
|
0.00001
|
|
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn)
|
rs794728204
|
0.00001
|
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00001
|
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
|
NM_000140.5(FECH):c.1137+3A>G
|
rs202147607
|
0.00001
|
|
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val)
|
rs80053154
|
0.00001
|
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
|
NM_000143.4(FH):c.1048C>T (p.Arg350Trp)
|
rs755436052
|
0.00001
|
|
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)
|
rs863223966
|
0.00001
|
|
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)
|
rs863224007
|
0.00001
|
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
|
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr)
|
rs398123164
|
0.00001
|
|
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)
|
rs863224010
|
0.00001
|
|
NM_000143.4(FH):c.194A>G (p.Asp65Gly)
|
rs145116688
|
0.00001
|
|
NM_000143.4(FH):c.222A>T (p.Arg74Ser)
|
rs146739519
|
0.00001
|
|
NM_000143.4(FH):c.320A>C (p.Asn107Thr)
|
rs121913121
|
0.00001
|
|
NM_000143.4(FH):c.583A>G (p.Met195Val)
|
rs1553341364
|
0.00001
|
|
NM_000143.4(FH):c.697C>T (p.Arg233Cys)
|
rs587781682
|
0.00001
|
|
NM_000143.4(FH):c.700A>G (p.Thr234Ala)
|
rs372505976
|
0.00001
|
|
NM_000143.4(FH):c.817G>A (p.Ala273Thr)
|
rs772190176
|
0.00001
|
|
NM_000143.4(FH):c.914T>C (p.Phe305Ser)
|
rs1439046582
|
0.00001
|
|
NM_000143.4(FH):c.923C>G (p.Ala308Gly)
|
rs1057524385
|
0.00001
|
|
NM_000146.4(FTL):c.-168G>A
|
rs398124635
|
0.00001
|
|
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)
|
rs776913133
|
0.00001
|
|
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg)
|
rs80358199
|
0.00001
|
|
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter)
|
rs997047045
|
0.00001
|
|
NM_000147.5(FUCA1):c.661del (p.Ser221fs)
|
rs774846977
|
0.00001
|
|
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)
|
rs1057517008
|
0.00001
|
|
NM_000151.4(G6PC1):c.230+1G>C
|
rs863224023
|
0.00001
|
|
NM_000151.4(G6PC1):c.231-1G>A
|
rs1555559279
|
0.00001
|
|
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)
|
rs886052955
|
0.00001
|
|
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)
|
rs104894568
|
0.00001
|
|
NM_000151.4(G6PC1):c.533C>T (p.Pro178Leu)
|
rs768803329
|
0.00001
|
|
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)
|
rs80356485
|
0.00001
|
|
NM_000151.4(G6PC1):c.757del (p.Ile253fs)
|
rs2056092619
|
0.00001
|
|
NM_000151.4(G6PC1):c.798del (p.Thr267fs)
|
rs749323139
|
0.00001
|
|
NM_000151.4(G6PC1):c.821C>T (p.Ala274Val)
|
rs774212157
|
0.00001
|
|
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)
|
rs104894563
|
0.00001
|
|
NM_000151.4(G6PC1):c.884G>A (p.Arg295His)
|
rs375212414
|
0.00001
|
|
NM_000152.5(GAA):c.-32-3C>A
|
rs1055945806
|
0.00001
|
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
0.00001
|
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
|
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)
|
rs886042961
|
0.00001
|
|
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)
|
rs996798292
|
0.00001
|
|
NM_000152.5(GAA):c.1327-2A>G
|
rs1410829147
|
0.00001
|
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
|
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
|
rs748047271
|
0.00001
|
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
|
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
|
rs892129065
|
0.00001
|
|
NM_000152.5(GAA):c.1610del (p.Glu537fs)
|
rs762060817
|
0.00001
|
|
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)
|
rs201185475
|
0.00001
|
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
|
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794
|
0.00001
|
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
0.00001
|
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
|
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)
|
rs914396317
|
0.00001
|
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
|
NM_000152.5(GAA):c.1A>G (p.Met1Val)
|
rs786204467
|
0.00001
|
|
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928
|
0.00001
|
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
|
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
0.00001
|
|
NM_000152.5(GAA):c.568C>T (p.Arg190Cys)
|
rs771258854
|
0.00001
|
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
|
NM_000152.5(GAA):c.692+5G>T
|
rs763027848
|
0.00001
|
|
NM_000152.5(GAA):c.701C>T (p.Thr234Met)
|
rs752054011
|
0.00001
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
0.00001
|
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
0.00001
|
|
NM_000153.4(GALC):c.1151T>C (p.Ile384Thr)
|
rs1376496659
|
0.00001
|
|
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu)
|
rs1365128831
|
0.00001
|
|
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter)
|
rs1057516816
|
0.00001
|
|
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)
|
rs375867319
|
0.00001
|
|
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys)
|
rs749893889
|
0.00001
|
|
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)
|
rs387906952
|
0.00001
|
|
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)
|
rs779864190
|
0.00001
|
|
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)
|
rs766762599
|
0.00001
|
|
NM_000153.4(GALC):c.195+1G>A
|
rs1009872980
|
0.00001
|
|
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)
|
rs771111145
|
0.00001
|
|
NM_000153.4(GALC):c.236G>A (p.Arg79His)
|
rs370117160
|
0.00001
|
|
NM_000153.4(GALC):c.328+1G>T
|
rs779701490
|
0.00001
|
|
NM_000153.4(GALC):c.331G>A (p.Gly111Ser)
|
rs756690487
|
0.00001
|
|
NM_000153.4(GALC):c.332G>A (p.Gly111Asp)
|
rs746487628
|
0.00001
|
|
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)
|
rs761550284
|
0.00001
|
|
NM_000153.4(GALC):c.516_517del (p.Tyr173fs)
|
rs1265628439
|
0.00001
|
|
NM_000153.4(GALC):c.560A>T (p.Asp187Val)
|
rs997021099
|
0.00001
|
|
NM_000153.4(GALC):c.592G>A (p.Glu198Lys)
|
rs909979938
|
0.00001
|
|
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
|
rs1436074042
|
0.00001
|
|
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)
|
rs886039569
|
0.00001
|
|
NM_000153.4(GALC):c.868C>T (p.Arg290Cys)
|
rs780750448
|
0.00001
|
|
NM_000153.4(GALC):c.869G>A (p.Arg290His)
|
rs746806459
|
0.00001
|
|
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
|
NM_000153.4(GALC):c.916G>A (p.Ala306Thr)
|
rs1349064845
|
0.00001
|
|
NM_000153.4(GALC):c.9del (p.Glu3fs)
|
rs1555384380
|
0.00001
|
|
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
|
rs2061599170
|
0.00001
|
|
NM_000154.2(GALK1):c.611+1G>T
|
rs982043960
|
0.00001
|
|
NM_000154.2(GALK1):c.793+1G>T
|
rs767790909
|
0.00001
|
|
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)
|
rs104894572
|
0.00001
|
|
NM_000155.4(GALT):c.1014C>G (p.Gly338=)
|
rs111033811
|
0.00001
|
|
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)
|
rs111033824
|
0.00001
|
|
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)
|
rs111033658
|
0.00001
|
|
NM_000155.4(GALT):c.241G>C (p.Ala81Pro)
|
rs111033665
|
0.00001
|
|
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)
|
rs111033666
|
0.00001
|
|
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)
|
rs111033669
|
0.00001
|
|
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)
|
rs1225091358
|
0.00001
|
|
NM_000155.4(GALT):c.367C>G (p.Arg123Gly)
|
rs111033674
|
0.00001
|
|
NM_000155.4(GALT):c.368G>A (p.Arg123Gln)
|
rs111033675
|
0.00001
|
|
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)
|
rs111033682
|
0.00001
|
|
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
|
rs111033694
|
0.00001
|
|
NM_000155.4(GALT):c.556C>T (p.His186Tyr)
|
rs111033725
|
0.00001
|
|
NM_000155.4(GALT):c.575G>A (p.Ser192Asn)
|
rs111033734
|
0.00001
|
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
|
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)
|
rs111033736
|
0.00001
|
|
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)
|
rs111033737
|
0.00001
|
|
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)
|
rs111033749
|
0.00001
|
|
NM_000155.4(GALT):c.692G>A (p.Arg231His)
|
rs111033754
|
0.00001
|
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
|
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)
|
rs786204763
|
0.00001
|
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766
|
0.00001
|
|
NM_000155.4(GALT):c.821-7A>G
|
rs767337193
|
0.00001
|
|
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)
|
rs111033783
|
0.00001
|
|
NM_000155.4(GALT):c.938G>A (p.Trp313Ter)
|
rs1410159094
|
0.00001
|
|
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)
|
rs111033790
|
0.00001
|
|
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)
|
rs111033795
|
0.00001
|
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
|
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)
|
rs111033794
|
0.00001
|
|
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)
|
rs144993986
|
0.00001
|
|
NM_000155.4(GALT):c.983G>A (p.Arg328His)
|
rs111033802
|
0.00001
|
|
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)
|
rs111033808
|
0.00001
|
|
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)
|
rs1441030187
|
0.00001
|
|
NM_000156.6(GAMT):c.328-1G>A
|
rs756772965
|
0.00001
|
|
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)
|
rs374724533
|
0.00001
|
|
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)
|
rs121909272
|
0.00001
|
|
NM_000157.4(GBA1):c.1049A>G (p.His350Arg)
|
rs78198234
|
0.00001
|
|
NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp)
|
rs121908308
|
0.00001
|
|
NM_000157.4(GBA1):c.1193G>A (p.Arg398Gln)
|
rs74979486
|
0.00001
|
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
|
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
|
rs80356769
|
0.00001
|
|
NM_000157.4(GBA1):c.1505G>A (p.Arg502His)
|
rs80356772
|
0.00001
|
|
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)
|
rs747506979
|
0.00001
|
|
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)
|
rs79653797
|
0.00001
|
|
NM_000157.4(GBA1):c.595_596del (p.Leu199fs)
|
rs749714463
|
0.00001
|
|
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)
|
rs1009850780
|
0.00001
|
|
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)
|
rs398123532
|
0.00001
|
|
NM_000157.4(GBA1):c.701G>A (p.Gly234Glu)
|
rs74462743
|
0.00001
|
|
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)
|
rs1064644
|
0.00001
|
|
NM_000157.4(GBA1):c.709A>G (p.Lys237Glu)
|
rs773409311
|
0.00001
|
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
|
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)
|
rs74500255
|
0.00001
|
|
NM_000158.4(GBE1):c.1239del (p.Asp413fs)
|
rs758504480
|
0.00001
|
|
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)
|
rs781198373
|
0.00001
|
|
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)
|
rs886058900
|
0.00001
|
|
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
|
rs1703086906
|
0.00001
|
|
NM_000158.4(GBE1):c.1803+2T>C
|
rs539203557
|
0.00001
|
|
NM_000158.4(GBE1):c.1823_1824del (p.His608fs)
|
rs1175447973
|
0.00001
|
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
|
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter)
|
rs766935302
|
0.00001
|
|
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)
|
rs1209123501
|
0.00001
|
|
NM_000158.4(GBE1):c.216del (p.Tyr73fs)
|
rs2107168870
|
0.00001
|
|
NM_000158.4(GBE1):c.476C>T (p.Pro159Leu)
|
rs1559676007
|
0.00001
|
|
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)
|
rs137852887
|
0.00001
|
|
NM_000158.4(GBE1):c.808C>T (p.Gln270Ter)
|
rs559653237
|
0.00001
|
|
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter)
|
rs779475367
|
0.00001
|
|
NM_000158.4(GBE1):c.955C>T (p.His319Tyr)
|
rs767100121
|
0.00001
|
|
NM_000158.4(GBE1):c.993-1G>T
|
rs763016962
|
0.00001
|
|
NM_000159.4(GCDH):c.1015A>G (p.Met339Val)
|
rs752234195
|
0.00001
|
|
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)
|
rs768925619
|
0.00001
|
|
NM_000159.4(GCDH):c.1064G>A (p.Arg355His)
|
rs748275416
|
0.00001
|
|
NM_000159.4(GCDH):c.1123T>C (p.Cys375Arg)
|
rs1348974766
|
0.00001
|
|
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala)
|
rs778153326
|
0.00001
|
|
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys)
|
rs1555751336
|
0.00001
|
|
NM_000159.4(GCDH):c.1199dup (p.Ile401fs)
|
rs1970722328
|
0.00001
|
|
NM_000159.4(GCDH):c.1213dup (p.Met405fs)
|
rs1377352983
|
0.00001
|
|
NM_000159.4(GCDH):c.1228G>A (p.Val410Met)
|
rs760155287
|
0.00001
|
|
NM_000159.4(GCDH):c.148T>G (p.Trp50Gly)
|
rs758646992
|
0.00001
|
|
NM_000159.4(GCDH):c.157C>T (p.Pro53Ser)
|
rs768532620
|
0.00001
|
|
NM_000159.4(GCDH):c.198del (p.Ile67fs)
|
rs1057517088
|
0.00001
|
|
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)
|
rs898043081
|
0.00001
|
|
NM_000159.4(GCDH):c.300G>A (p.Met100Ile)
|
rs759838598
|
0.00001
|
|
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)
|
rs886043840
|
0.00001
|
|
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys)
|
rs780976048
|
0.00001
|
|
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)
|
rs755586631
|
0.00001
|
|
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)
|
rs200639270
|
0.00001
|
|
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)
|
rs139851890
|
0.00001
|
|
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)
|
rs1176799813
|
0.00001
|
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
|
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)
|
rs749452002
|
0.00001
|
|
NM_000159.4(GCDH):c.636-1G>A
|
rs398123195
|
0.00001
|
|
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)
|
rs1449724176
|
0.00001
|
|
NM_000159.4(GCDH):c.763T>C (p.Ser255Pro)
|
rs1479265777
|
0.00001
|
|
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)
|
rs758503371
|
0.00001
|
|
NM_000159.4(GCDH):c.796A>G (p.Met266Val)
|
rs745357523
|
0.00001
|
|
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)
|
rs751742575
|
0.00001
|
|
NM_000159.4(GCDH):c.833C>T (p.Pro278Leu)
|
rs755054282
|
0.00001
|
|
NM_000159.4(GCDH):c.848del (p.Leu283fs)
|
rs761491320
|
0.00001
|
|
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys)
|
rs1328059662
|
0.00001
|
|
NM_000159.4(GCDH):c.880C>T (p.Arg294Trp)
|
rs1864390545
|
0.00001
|
|
NM_000159.4(GCDH):c.893C>T (p.Ala298Val)
|
rs764993096
|
0.00001
|
|
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
|
rs751186776
|
0.00001
|
|
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)
|
rs1260580183
|
0.00001
|
|
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)
|
rs794726972
|
0.00001
|
|
NM_000162.5(GCK):c.1364T>A (p.Val455Glu)
|
rs753795627
|
0.00001
|
|
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
|
rs1085307455
|
0.00001
|
|
NM_000162.5(GCK):c.605T>C (p.Met202Thr)
|
rs193922311
|
0.00001
|
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
|
NM_000162.5(GCK):c.787T>C (p.Ser263Pro)
|
rs193922331
|
0.00001
|
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
|
NM_000163.5(GHR):c.168C>A (p.Cys56Ter)
|
rs121909359
|
0.00001
|
|
NM_000163.5(GHR):c.266+83G>T
|
rs1405926633
|
0.00001
|
|
NM_000163.5(GHR):c.508G>C (p.Asp170His)
|
rs121909366
|
0.00001
|
|
NM_000163.5(GHR):c.618+792A>G
|
rs1011727375
|
0.00001
|
|
NM_000163.5(GHR):c.723C>T (p.Gly241=)
|
rs1260870046
|
0.00001
|
|
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)
|
rs962041031
|
0.00001
|
|
NM_000166.6(GJB1):c.-103C>T
|
rs863224971
|
0.00001
|
|
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)
|
rs139643362
|
0.00001
|
|
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser)
|
rs104894811
|
0.00001
|
|
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)
|
rs797044776
|
0.00001
|
|
NM_000169.3(GLA):c.124A>C (p.Met42Leu)
|
rs797044613
|
0.00001
|
|
NM_000169.3(GLA):c.62T>C (p.Leu21Pro)
|
rs869312135
|
0.00001
|
|
NM_000169.3(GLA):c.870G>C (p.Met290Ile)
|
rs869312438
|
0.00001
|
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
0.00001
|
|
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)
|
rs386833521
|
0.00001
|
|
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn)
|
rs151163582
|
0.00001
|
|
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp)
|
rs761957837
|
0.00001
|
|
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)
|
rs386833524
|
0.00001
|
|
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp)
|
rs1286882965
|
0.00001
|
|
NM_000170.3(GLDC):c.1607G>A (p.Arg536Gln)
|
rs747853668
|
0.00001
|
|
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)
|
rs772871471
|
0.00001
|
|
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)
|
rs386833531
|
0.00001
|
|
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)
|
rs1251538998
|
0.00001
|
|
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg)
|
rs758575745
|
0.00001
|
|
NM_000170.3(GLDC):c.2186del (p.Ala729fs)
|
rs386833543
|
0.00001
|
|
NM_000170.3(GLDC):c.2324A>G (p.His775Arg)
|
rs386833555
|
0.00001
|
|
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)
|
rs386833559
|
0.00001
|
|
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)
|
rs1275684568
|
0.00001
|
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
|
NM_000170.3(GLDC):c.2879G>A (p.Trp960Ter)
|
rs1410625190
|
0.00001
|
|
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter)
|
rs386833572
|
0.00001
|
|
NM_000170.3(GLDC):c.2919+1G>A
|
rs386833575
|
0.00001
|
|
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)
|
rs749512886
|
0.00001
|
|
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)
|
rs1356375715
|
0.00001
|
|
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)
|
rs1554648117
|
0.00001
|
|
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu)
|
rs138484426
|
0.00001
|
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
|
NM_000171.4(GLRA1):c.839G>A (p.Arg280His)
|
rs281864918
|
0.00001
|
|
NM_000173.7(GP1BA):c.586C>T (p.Gln196Ter)
|
rs371226354
|
0.00001
|
|
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr)
|
rs1238884216
|
0.00001
|
|
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr)
|
rs137853584
|
0.00001
|
|
NM_000178.4(GSS):c.1252C>T (p.Arg418Ter)
|
rs1486049191
|
0.00001
|
|
NM_000178.4(GSS):c.656A>G (p.Asp219Gly)
|
rs28938472
|
0.00001
|
|
NM_000178.4(GSS):c.709C>T (p.Arg237Ter)
|
rs201925123
|
0.00001
|
|
NM_000178.4(GSS):c.847C>T (p.Arg283Cys)
|
rs121909309
|
0.00001
|
|
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)
|
rs63750741
|
0.00001
|
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
|
NM_000179.3(MSH6):c.3154G>T (p.Glu1052Ter)
|
rs765763906
|
0.00001
|
|
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs)
|
rs63751327
|
0.00001
|
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
|
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
|
rs940175403
|
0.00001
|
|
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)
|
rs750889782
|
0.00001
|
|
NM_000180.4(GUCY2D):c.3224+1G>C
|
rs757823463
|
0.00001
|
|
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
|
rs121918173
|
0.00001
|
|
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)
|
rs764018631
|
0.00001
|
|
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter)
|
rs1210475838
|
0.00001
|
|
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)
|
rs121918176
|
0.00001
|
|
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)
|
rs121918184
|
0.00001
|
|
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)
|
rs786205673
|
0.00001
|
|
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter)
|
rs1053785648
|
0.00001
|
|
NM_000181.4(GUSB):c.499C>T (p.Arg167Ter)
|
rs769769379
|
0.00001
|
|
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)
|
rs121918174
|
0.00001
|
|
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter)
|
rs764866250
|
0.00001
|
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
|
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
|
rs1303177735
|
0.00001
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
0.00001
|
|
NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs)
|
rs796051971
|
0.00001
|
|
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)
|
rs771028541
|
0.00001
|
|
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)
|
rs200438844
|
0.00001
|
|
NM_000182.5(HADHA):c.315-1G>A
|
rs1458898996
|
0.00001
|
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
0.00001
|
|
NM_000183.3(HADHB):c.254+1G>A
|
rs776172237
|
0.00001
|
|
NM_000183.3(HADHB):c.255-2A>G
|
rs1220650950
|
0.00001
|
|
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)
|
rs552292698
|
0.00001
|
|
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)
|
rs757785149
|
0.00001
|
|
NM_000186.4(CFH):c.2575C>T (p.Gln859Ter)
|
rs1669420365
|
0.00001
|
|
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)
|
rs460184
|
0.00001
|
|
NM_000187.4(HGD):c.11T>A (p.Leu4Ter)
|
rs786204422
|
0.00001
|
|
NM_000187.4(HGD):c.140C>T (p.Ser47Leu)
|
rs369517993
|
0.00001
|
|
NM_000187.4(HGD):c.15+1G>A
|
rs552207335
|
0.00001
|
|
NM_000187.4(HGD):c.157C>T (p.Arg53Trp)
|
rs759435977
|
0.00001
|
|
NM_000187.4(HGD):c.343G>C (p.Gly115Arg)
|
rs755734596
|
0.00001
|
|
NM_000187.4(HGD):c.347T>C (p.Leu116Pro)
|
rs569846003
|
0.00001
|
|
NM_000187.4(HGD):c.365C>T (p.Ala122Val)
|
rs544956641
|
0.00001
|
|
NM_000187.4(HGD):c.469+2T>C
|
rs745333667
|
0.00001
|
|
NM_000187.4(HGD):c.473C>T (p.Pro158Leu)
|
rs375396766
|
0.00001
|
|
NM_000187.4(HGD):c.504G>C (p.Glu168Asp)
|
rs780173554
|
0.00001
|
|
NM_000187.4(HGD):c.536T>G (p.Ile179Ser)
|
rs1031569954
|
0.00001
|
|
NM_000187.4(HGD):c.673C>T (p.Arg225Cys)
|
rs756789146
|
0.00001
|
|
NM_000187.4(HGD):c.674G>A (p.Arg225His)
|
rs562853291
|
0.00001
|
|
NM_000187.4(HGD):c.821C>T (p.Pro274Leu)
|
rs1397264922
|
0.00001
|
|
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)
|
rs777849213
|
0.00001
|
|
NM_000188.3(HK1):c.281G>A (p.Arg94Gln)
|
rs1176654400
|
0.00001
|
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
|
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln)
|
rs199587895
|
0.00001
|
|
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)
|
rs760106433
|
0.00001
|
|
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
|
rs1226874636
|
0.00001
|
|
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)
|
rs1425615804
|
0.00001
|
|
NM_000193.4(SHH):c.664G>A (p.Asp222Asn)
|
rs587778805
|
0.00001
|
|
NM_000195.5(HPS1):c.1744-2A>C
|
rs281865088
|
0.00001
|
|
NM_000195.5(HPS1):c.1858-1G>A
|
rs758797992
|
0.00001
|
|
NM_000195.5(HPS1):c.1940+2T>C
|
rs972096803
|
0.00001
|
|
NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro)
|
rs281865090
|
0.00001
|
|
NM_000195.5(HPS1):c.398+5G>A
|
rs281865077
|
0.00001
|
|
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter)
|
rs1846158787
|
0.00001
|
|
NM_000195.5(HPS1):c.987+1G>A
|
rs913991716
|
0.00001
|
|
NM_000195.5(HPS1):c.988-1G>T
|
rs764927038
|
0.00001
|
|
NM_000196.4(HSD11B2):c.1010_1012del (p.Arg337_Tyr338delinsHis)
|
rs397509434
|
0.00001
|
|
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)
|
rs1555518481
|
0.00001
|
|
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys)
|
rs121917780
|
0.00001
|
|
NM_000196.4(HSD11B2):c.623G>A (p.Arg208His)
|
rs28934592
|
0.00001
|
|
NM_000197.1(HSD17B3):c.194C>T
|
rs747329682
|
0.00001
|
|
NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr)
|
rs119481078
|
0.00001
|
|
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp)
|
rs119481077
|
0.00001
|
|
NM_000197.2(HSD17B3):c.703A>G (p.Met235Val)
|
rs119481074
|
0.00001
|
|
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)
|
rs28934880
|
0.00001
|
|
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys)
|
rs80358219
|
0.00001
|
|
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)
|
rs80358221
|
0.00001
|
|
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter)
|
rs1459579613
|
0.00001
|
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
0.00001
|
|
NM_000199.5(SGSH):c.1135del (p.Val379fs)
|
rs777956287
|
0.00001
|
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
|
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)
|
rs1323958195
|
0.00001
|
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
|
NM_000199.5(SGSH):c.1429del (p.Asp477fs)
|
rs781572815
|
0.00001
|
|
NM_000199.5(SGSH):c.1A>G (p.Met1Val)
|
rs1250300189
|
0.00001
|
|
NM_000199.5(SGSH):c.221G>A (p.Arg74His)
|
rs778336949
|
0.00001
|
|
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter)
|
rs1479456289
|
0.00001
|
|
NM_000199.5(SGSH):c.2T>C (p.Met1Thr)
|
rs1488660868
|
0.00001
|
|
NM_000199.5(SGSH):c.302T>C (p.Phe101Ser)
|
rs1211675075
|
0.00001
|
|
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
|
rs1479831530
|
0.00001
|
|
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)
|
rs104894638
|
0.00001
|
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
|
NM_000199.5(SGSH):c.545G>A (p.Arg182His)
|
rs372911015
|
0.00001
|
|
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)
|
rs753666460
|
0.00001
|
|
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)
|
rs886041370
|
0.00001
|
|
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)
|
rs746776254
|
0.00001
|
|
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)
|
rs1046551417
|
0.00001
|
|
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)
|
rs368454909
|
0.00001
|
|
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)
|
rs750496798
|
0.00001
|
|
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)
|
rs762903007
|
0.00001
|
|
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)
|
rs754949360
|
0.00001
|
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
|
NM_000203.5(IDUA):c.1190-2A>T
|
rs994902207
|
0.00001
|
|
NM_000203.5(IDUA):c.1402+1G>T
|
rs398123254
|
0.00001
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
0.00001
|
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
|
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg)
|
rs1715216061
|
0.00001
|
|
NM_000203.5(IDUA):c.1524+1G>A
|
rs1553917483
|
0.00001
|
|
NM_000203.5(IDUA):c.1602del (p.Leu535fs)
|
rs1553917566
|
0.00001
|
|
NM_000203.5(IDUA):c.1828+1G>C
|
rs919151683
|
0.00001
|
|
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)
|
rs794727240
|
0.00001
|
|
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
|
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)
|
rs754154200
|
0.00001
|
|
NM_000203.5(IDUA):c.719A>G (p.His240Arg)
|
rs1297784711
|
0.00001
|
|
NM_000203.5(IDUA):c.87del (p.His30fs)
|
rs1193085446
|
0.00001
|
|
NM_000204.5(CFI):c.1300del (p.Glu434fs)
|
rs757053954
|
0.00001
|
|
NM_000204.5(CFI):c.1A>G (p.Met1Val)
|
rs770655669
|
0.00001
|
|
NM_000207.3(INS):c.1A>G (p.Met1Val)
|
rs757124361
|
0.00001
|
|
NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter)
|
rs1399113954
|
0.00001
|
|
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser)
|
rs958609406
|
0.00001
|
|
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro)
|
rs79208797
|
0.00001
|
|
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp)
|
rs121918446
|
0.00001
|
|
NM_000212.3(ITGB3):c.777+1G>A
|
rs745766760
|
0.00001
|
|
NM_000212.3(ITGB3):c.79+1G>A
|
rs2064977538
|
0.00001
|
|
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr)
|
rs80338755
|
0.00001
|
|
NM_000213.5(ITGB4):c.2254+1G>T
|
rs201310681
|
0.00001
|
|
NM_000213.5(ITGB4):c.884_885del (p.Thr295fs)
|
rs1377620586
|
0.00001
|
|
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp)
|
rs193922361
|
0.00001
|
|
NM_000215.4(JAK3):c.1951C>T (p.Arg651Trp)
|
rs747131454
|
0.00001
|
|
NM_000215.4(JAK3):c.3208-1G>A
|
rs1160856608
|
0.00001
|
|
NM_000215.4(JAK3):c.578G>A (p.Cys193Tyr)
|
rs1467075214
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1032+1G>A
|
rs397508070
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)
|
rs397508075
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)
|
rs199473410
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1252-1G>C
|
rs1848628661
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)
|
rs199472795
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)
|
rs199472800
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)
|
rs199472815
|
0.00001
|
|
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)
|
rs397508109
|
0.00001
|
|
NM_000218.3(KCNQ1):c.477+1G>A
|
rs762814879
|
0.00001
|
|
NM_000218.3(KCNQ1):c.477+5G>A
|
rs397508111
|
0.00001
|
|
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)
|
rs179489
|
0.00001
|
|
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)
|
rs199472697
|
0.00001
|
|
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)
|
rs199472702
|
0.00001
|
|
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met)
|
rs17215479
|
0.00001
|
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
|
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)
|
rs199473457
|
0.00001
|
|
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)
|
rs120074196
|
0.00001
|
|
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
|
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)
|
rs199473460
|
0.00001
|
|
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)
|
rs120074194
|
0.00001
|
|
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)
|
rs120074180
|
0.00001
|
|
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)
|
rs199472730
|
0.00001
|
|
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)
|
rs193922365
|
0.00001
|
|
NM_000228.3(LAMB3):c.1594C>T (p.Arg532Ter)
|
rs757145297
|
0.00001
|
|
NM_000228.3(LAMB3):c.628+1G>A
|
rs1057516539
|
0.00001
|
|
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)
|
rs121912482
|
0.00001
|
|
NM_000228.3(LAMB3):c.877T>A (p.Cys293Ser)
|
rs759084687
|
0.00001
|
|
NM_000229.2(LCAT):c.491G>A (p.Arg164His)
|
rs769485083
|
0.00001
|
|
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)
|
rs781760379
|
0.00001
|
|
NM_000231.3(SGCG):c.342dup (p.Ala115fs)
|
rs1262459682
|
0.00001
|
|
NM_000231.3(SGCG):c.559del (p.Asp187fs)
|
rs1484553312
|
0.00001
|
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
0.00001
|
|
NM_000232.5(SGCB):c.265G>A (p.Val89Met)
|
rs762652676
|
0.00001
|
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00001
|
|
NM_000232.5(SGCB):c.33+1G>C
|
rs1553940957
|
0.00001
|
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
|
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)
|
rs751427686
|
0.00001
|
|
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter)
|
rs773554421
|
0.00001
|
|
NM_000232.5(SGCB):c.621+1G>T
|
rs1264362642
|
0.00001
|
|
NM_000232.5(SGCB):c.622-2A>G
|
rs780596734
|
0.00001
|
|
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter)
|
rs121912524
|
0.00001
|
|
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp)
|
rs121434561
|
0.00001
|
|
NM_000235.4(LIPA):c.111+1G>A
|
rs762960877
|
0.00001
|
|
NM_000235.4(LIPA):c.260G>T (p.Gly87Val)
|
rs587778878
|
0.00001
|
|
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs)
|
rs753796180
|
0.00001
|
|
NM_000235.4(LIPA):c.386A>G (p.His129Arg)
|
rs1423914418
|
0.00001
|
|
NM_000237.3(LPL):c.337T>C (p.Trp113Arg)
|
rs118204069
|
0.00001
|
|
NM_000237.3(LPL):c.397C>T (p.Gln133Ter)
|
rs118204058
|
0.00001
|
|
NM_000237.3(LPL):c.590G>A (p.Arg197His)
|
rs372668179
|
0.00001
|
|
NM_000237.3(LPL):c.607G>A (p.Ala203Thr)
|
rs118204056
|
0.00001
|
|
NM_000237.3(LPL):c.701C>T (p.Pro234Leu)
|
rs118204060
|
0.00001
|
|
NM_000237.3(LPL):c.784C>T (p.Gln262Ter)
|
rs1297688787
|
0.00001
|
|
NM_000237.3(LPL):c.829G>A (p.Asp277Asn)
|
rs118204068
|
0.00001
|
|
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu)
|
rs199472899
|
0.00001
|
|
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)
|
rs199473428
|
0.00001
|
|
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)
|
rs199472979
|
0.00001
|
|
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)
|
rs199472990
|
0.00001
|
|
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln)
|
rs121912512
|
0.00001
|
|
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val)
|
rs199473534
|
0.00001
|
|
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)
|
rs199473538
|
0.00001
|
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
|
NM_000245.4(MET):c.3274G>A (p.Val1092Ile)
|
rs786202724
|
0.00001
|
|
NM_000246.4(CIITA):c.1518del (p.Gln507fs)
|
rs2544477641
|
0.00001
|
|
NM_000246.4(CIITA):c.3317+1G>A
|
rs771073292
|
0.00001
|
|
NM_000246.4(CIITA):c.922C>T (p.Arg308Ter)
|
rs567218474
|
0.00001
|
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
|
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)
|
rs63751596
|
0.00001
|
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
|
NM_000249.4(MLH1):c.207+1G>A
|
rs267607718
|
0.00001
|
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
|
NM_000249.4(MLH1):c.306G>A (p.Glu102=)
|
rs63751665
|
0.00001
|
|
NM_000249.4(MLH1):c.389A>G (p.Tyr130Cys)
|
rs587779011
|
0.00001
|
|
NM_000249.4(MLH1):c.790+1G>A
|
rs267607789
|
0.00001
|
|
NM_000254.3(MTR):c.340-166A>G
|
rs1661117141
|
0.00001
|
|
NM_000255.4(MMUT):c.1084-2A>G
|
rs879253839
|
0.00001
|
|
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro)
|
rs368790885
|
0.00001
|
|
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln)
|
rs774457503
|
0.00001
|
|
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)
|
rs769922244
|
0.00001
|
|
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)
|
rs765284825
|
0.00001
|
|
NM_000255.4(MMUT):c.2124+1G>A
|
rs543029288
|
0.00001
|
|
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
|
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)
|
rs769348060
|
0.00001
|
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
0.00001
|
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
|
NM_000255.4(MMUT):c.422C>T (p.Ala141Val)
|
rs565348836
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1227-2A>G
|
rs730880531
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2258dup (p.Lys754fs)
|
rs774521272
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2490dup (p.His831fs)
|
rs397515966
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)
|
rs121909377
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3331-2A>C
|
rs869025469
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3490+1G>T
|
rs397516020
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3491-2A>T
|
rs397516022
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
|
rs368765949
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
0.00001
|
|
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr)
|
rs397516053
|
0.00001
|
|
NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe)
|
rs397516068
|
0.00001
|
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
|
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile)
|
rs730880868
|
0.00001
|
|
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)
|
rs121913625
|
0.00001
|
|
NM_000257.4(MYH7):c.1358G>A (p.Arg453His)
|
rs397516101
|
0.00001
|
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
|
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)
|
rs121913651
|
0.00001
|
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
|
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn)
|
rs564101364
|
0.00001
|
|
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)
|
rs121913626
|
0.00001
|
|
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly)
|
rs727504239
|
0.00001
|
|
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)
|
rs727504240
|
0.00001
|
|
NM_000257.4(MYH7):c.2135G>T (p.Arg712Leu)
|
rs1224554825
|
0.00001
|
|
NM_000257.4(MYH7):c.2333A>T (p.Asp778Val)
|
rs121913634
|
0.00001
|
|
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln)
|
rs730880748
|
0.00001
|
|
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr)
|
rs397516157
|
0.00001
|
|
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys)
|
rs730880750
|
0.00001
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
0.00001
|
|
NM_000257.4(MYH7):c.2609G>A (p.Arg870His)
|
rs36211715
|
0.00001
|
|
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu)
|
rs397516160
|
0.00001
|
|
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)
|
rs397516161
|
0.00001
|
|
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)
|
rs397516179
|
0.00001
|
|
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His)
|
rs397516187
|
0.00001
|
|
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)
|
rs727503246
|
0.00001
|
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
0.00001
|
|
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)
|
rs397516202
|
0.00001
|
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
|
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln)
|
rs397516207
|
0.00001
|
|
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)
|
rs727503278
|
0.00001
|
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
|
NM_000257.4(MYH7):c.445G>A (p.Glu149Lys)
|
rs773740053
|
0.00001
|
|
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
|
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)
|
rs45516091
|
0.00001
|
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
|
NM_000258.3(MYL3):c.281G>A (p.Arg94His)
|
rs199474703
|
0.00001
|
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
|
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro)
|
rs397516281
|
0.00001
|
|
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His)
|
rs387906700
|
0.00001
|
|
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr)
|
rs1297886521
|
0.00001
|
|
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)
|
rs1555067667
|
0.00001
|
|
NM_000260.4(MYO7A):c.133-2A>G
|
rs782064437
|
0.00001
|
|
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)
|
rs111033180
|
0.00001
|
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
|
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)
|
rs201892914
|
0.00001
|
|
NM_000260.4(MYO7A):c.254T>C (p.Leu85Pro)
|
rs1325184426
|
0.00001
|
|
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)
|
rs111033437
|
0.00001
|
|
NM_000260.4(MYO7A):c.2838del (p.Met946fs)
|
rs782636104
|
0.00001
|
|
NM_000260.4(MYO7A):c.285+1G>C
|
rs782661097
|
0.00001
|
|
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser)
|
rs781988557
|
0.00001
|
|
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)
|
rs376535635
|
0.00001
|
|
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr)
|
rs1555090442
|
0.00001
|
|
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu)
|
rs750358148
|
0.00001
|
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
0.00001
|
|
NM_000260.4(MYO7A):c.4065del (p.His1355fs)
|
rs111033202
|
0.00001
|
|
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys)
|
rs782808261
|
0.00001
|
|
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)
|
rs757460257
|
0.00001
|
|
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)
|
rs1472566324
|
0.00001
|
|
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)
|
rs111033174
|
0.00001
|
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
|
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
|
rs397516323
|
0.00001
|
|
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=)
|
rs1453053718
|
0.00001
|
|
NM_000260.4(MYO7A):c.6051+2T>C
|
rs1353598791
|
0.00001
|
|
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
|
rs28934610
|
0.00001
|
|
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)
|
rs111033283
|
0.00001
|
|
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met)
|
rs1383147250
|
0.00001
|
|
NM_000262.3(NAGA):c.157C>T (p.Gln53Ter)
|
rs775099024
|
0.00001
|
|
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)
|
rs768918822
|
0.00001
|
|
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)
|
rs376090795
|
0.00001
|
|
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
|
rs1460260015
|
0.00001
|
|
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260
|
0.00001
|
|
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)
|
rs771151036
|
0.00001
|
|
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys)
|
rs1183634153
|
0.00001
|
|
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)
|
rs104894596
|
0.00001
|
|
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)
|
rs778021009
|
0.00001
|
|
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)
|
rs569519789
|
0.00001
|
|
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)
|
rs1244655820
|
0.00001
|
|
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
|
rs1215582852
|
0.00001
|
|
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)
|
rs104894594
|
0.00001
|
|
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)
|
rs104894593
|
0.00001
|
|
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)
|
rs527236037
|
0.00001
|
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
|
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)
|
rs1555621454
|
0.00001
|
|
NM_000263.4(NAGLU):c.384-1G>A
|
rs764134891
|
0.00001
|
|
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)
|
rs886043792
|
0.00001
|
|
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)
|
rs1358994052
|
0.00001
|
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
|
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu)
|
rs118204025
|
0.00001
|
|
NM_000264.5(PTCH1):c.395-1G>A
|
rs368869806
|
0.00001
|
|
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)
|
rs1555637232
|
0.00001
|
|
NM_000271.5(NPC1):c.1123A>G (p.Thr375Ala)
|
rs746372120
|
0.00001
|
|
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala)
|
rs120074134
|
0.00001
|
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
|
NM_000271.5(NPC1):c.1412C>T (p.Pro471Leu)
|
rs201226297
|
0.00001
|
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
|
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser)
|
rs1190383931
|
0.00001
|
|
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)
|
rs369368181
|
0.00001
|
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
|
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
|
NM_000271.5(NPC1):c.2071C>G (p.Pro691Ala)
|
rs2058754429
|
0.00001
|
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
|
NM_000271.5(NPC1):c.2269G>A (p.Val757Met)
|
rs777156729
|
0.00001
|
|
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)
|
rs772565983
|
0.00001
|
|
NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser)
|
rs768999208
|
0.00001
|
|
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)
|
rs753768576
|
0.00001
|
|
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)
|
rs786204714
|
0.00001
|
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
|
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)
|
rs1428599096
|
0.00001
|
|
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
|
rs120074135
|
0.00001
|
|
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)
|
rs1057517978
|
0.00001
|
|
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)
|
rs120074132
|
0.00001
|
|
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter)
|
rs786204586
|
0.00001
|
|
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)
|
rs28942108
|
0.00001
|
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
|
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val)
|
rs2058666849
|
0.00001
|
|
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys)
|
rs548191894
|
0.00001
|
|
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)
|
rs781261962
|
0.00001
|
|
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)
|
rs28942104
|
0.00001
|
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
0.00001
|
|
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln)
|
rs534280005
|
0.00001
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
0.00001
|
|
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)
|
rs746715353
|
0.00001
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
0.00001
|
|
NM_000271.5(NPC1):c.3309dup (p.Val1104fs)
|
rs1057517194
|
0.00001
|
|
NM_000271.5(NPC1):c.3422T>G (p.Val1141Gly)
|
rs144725473
|
0.00001
|
|
NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly)
|
rs369098773
|
0.00001
|
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
|
NM_000271.5(NPC1):c.3591+1G>A
|
rs786200877
|
0.00001
|
|
NM_000271.5(NPC1):c.3591+4del
|
rs794727371
|
0.00001
|
|
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)
|
rs758902805
|
0.00001
|
|
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
|
rs766178353
|
0.00001
|
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
|
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter)
|
rs1064795718
|
0.00001
|
|
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp)
|
rs121965053
|
0.00001
|
|
NM_000274.4(OAT):c.1112dup (p.Arg372fs)
|
rs750535638
|
0.00001
|
|
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)
|
rs386833598
|
0.00001
|
|
NM_000274.4(OAT):c.152G>A (p.Gly51Asp)
|
rs11553554
|
0.00001
|
|
NM_000274.4(OAT):c.162C>A (p.Asn54Lys)
|
rs121965048
|
0.00001
|
|
NM_000274.4(OAT):c.272G>A (p.Gly91Glu)
|
rs386833603
|
0.00001
|
|
NM_000274.4(OAT):c.542C>T (p.Thr181Met)
|
rs386833613
|
0.00001
|
|
NM_000274.4(OAT):c.677C>T (p.Ala226Val)
|
rs121965059
|
0.00001
|
|
NM_000274.4(OAT):c.721_722dup (p.Asp242fs)
|
rs1468939642
|
0.00001
|
|
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)
|
rs121965051
|
0.00001
|
|
NM_000274.4(OAT):c.748C>T (p.Arg250Ter)
|
rs386833617
|
0.00001
|
|
NM_000274.4(OAT):c.796C>T (p.Gln266Ter)
|
rs1951458291
|
0.00001
|
|
NM_000274.4(OAT):c.800C>T (p.Thr267Ile)
|
rs386833618
|
0.00001
|
|
NM_000274.4(OAT):c.952G>A (p.Glu318Lys)
|
rs386833621
|
0.00001
|
|
NM_000274.4(OAT):c.991C>T (p.Arg331Ter)
|
rs386833623
|
0.00001
|
|
NM_000275.3(OCA2):c.1045-15T>G
|
rs779461179
|
0.00001
|
|
NM_000275.3(OCA2):c.1045-9T>G
|
rs755604671
|
0.00001
|
|
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg)
|
rs1555368749
|
0.00001
|
|
NM_000275.3(OCA2):c.1080C>T (p.Ser360=)
|
rs373775562
|
0.00001
|
|
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val)
|
rs749661379
|
0.00001
|
|
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly)
|
rs147816326
|
0.00001
|
|
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser)
|
rs763819379
|
0.00001
|
|
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr)
|
rs772324459
|
0.00001
|
|
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)
|
rs779850564
|
0.00001
|
|
NM_000275.3(OCA2):c.1842+1G>T
|
rs387906240
|
0.00001
|
|
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)
|
rs1297737900
|
0.00001
|
|
NM_000275.3(OCA2):c.2079G>A (p.Glu693=)
|
rs1374558186
|
0.00001
|
|
NM_000275.3(OCA2):c.2135del (p.Ile712fs)
|
rs775008954
|
0.00001
|
|
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg)
|
rs768934658
|
0.00001
|
|
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)
|
rs776814755
|
0.00001
|
|
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
|
rs748287294
|
0.00001
|
|
NM_000275.3(OCA2):c.807+1G>T
|
rs763219039
|
0.00001
|
|
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)
|
rs769408559
|
0.00001
|
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
|
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)
|
rs1592947508
|
0.00001
|
|
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)
|
rs184148104
|
0.00001
|
|
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)
|
rs62517194
|
0.00001
|
|
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)
|
rs180819807
|
0.00001
|
|
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)
|
rs62508736
|
0.00001
|
|
NM_000277.3(PAH):c.1199+17G>A
|
rs62508613
|
0.00001
|
|
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys)
|
rs199475658
|
0.00001
|
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
|
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)
|
rs281865437
|
0.00001
|
|
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)
|
rs764974157
|
0.00001
|
|
NM_000277.3(PAH):c.1316-2A>G
|
rs760830761
|
0.00001
|
|
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)
|
rs1402168594
|
0.00001
|
|
NM_000277.3(PAH):c.140C>T (p.Ala47Val)
|
rs118203925
|
0.00001
|
|
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)
|
rs199475630
|
0.00001
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
0.00001
|
|
NM_000277.3(PAH):c.169-13T>G
|
rs62507341
|
0.00001
|
|
NM_000277.3(PAH):c.176A>T (p.Asp59Val)
|
rs199475672
|
0.00001
|
|
NM_000277.3(PAH):c.183C>G (p.Asn61Lys)
|
rs199475634
|
0.00001
|
|
NM_000277.3(PAH):c.1A>G (p.Met1Val)
|
rs62514891
|
0.00001
|
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
|
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)
|
rs62509017
|
0.00001
|
|
NM_000277.3(PAH):c.275C>T (p.Thr92Ile)
|
rs62514903
|
0.00001
|
|
NM_000277.3(PAH):c.281T>G (p.Ile94Ser)
|
rs62508677
|
0.00001
|
|
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)
|
rs62517167
|
0.00001
|
|
NM_000277.3(PAH):c.320A>G (p.His107Arg)
|
rs542645236
|
0.00001
|
|
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)
|
rs199475623
|
0.00001
|
|
NM_000277.3(PAH):c.441+4A>G
|
rs62508586
|
0.00001
|
|
NM_000277.3(PAH):c.442-5C>G
|
rs62514909
|
0.00001
|
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
|
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe)
|
rs1565853526
|
0.00001
|
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00001
|
|
NM_000277.3(PAH):c.490A>G (p.Ile164Val)
|
rs199475647
|
0.00001
|
|
NM_000277.3(PAH):c.493G>A (p.Ala165Thr)
|
rs199475626
|
0.00001
|
|
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)
|
rs281865440
|
0.00001
|
|
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)
|
rs199475613
|
0.00001
|
|
NM_000277.3(PAH):c.520A>G (p.Ile174Val)
|
rs199475632
|
0.00001
|
|
NM_000277.3(PAH):c.521T>A (p.Ile174Asn)
|
rs138809906
|
0.00001
|
|
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn)
|
rs199475671
|
0.00001
|
|
NM_000277.3(PAH):c.545A>G (p.Glu182Gly)
|
rs199475617
|
0.00001
|
|
NM_000277.3(PAH):c.558_559del (p.Trp187fs)
|
rs62517207
|
0.00001
|
|
NM_000277.3(PAH):c.559T>C (p.Trp187Arg)
|
rs62507272
|
0.00001
|
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
|
NM_000277.3(PAH):c.601C>T (p.His201Tyr)
|
rs62517205
|
0.00001
|
|
NM_000277.3(PAH):c.635T>C (p.Leu212Pro)
|
rs62517198
|
0.00001
|
|
NM_000277.3(PAH):c.653G>T (p.Gly218Val)
|
rs62514933
|
0.00001
|
|
NM_000277.3(PAH):c.665A>G (p.Asp222Gly)
|
rs62507319
|
0.00001
|
|
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)
|
rs199475577
|
0.00001
|
|
NM_000277.3(PAH):c.716G>T (p.Gly239Val)
|
rs62507283
|
0.00001
|
|
NM_000277.3(PAH):c.718T>G (p.Phe240Val)
|
rs62507337
|
0.00001
|
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
0.00001
|
|
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
|
NM_000277.3(PAH):c.775G>A (p.Ala259Thr)
|
rs62642932
|
0.00001
|
|
NM_000277.3(PAH):c.776C>T (p.Ala259Val)
|
rs118203921
|
0.00001
|
|
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)
|
rs62514953
|
0.00001
|
|
NM_000277.3(PAH):c.827T>C (p.Met276Thr)
|
rs62508722
|
0.00001
|
|
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys)
|
rs62516155
|
0.00001
|
|
NM_000277.3(PAH):c.835C>G (p.Pro279Ala)
|
rs1555204441
|
0.00001
|
|
NM_000277.3(PAH):c.842+3G>C
|
rs62507324
|
0.00001
|
|
NM_000277.3(PAH):c.859C>G (p.Leu287Val)
|
rs781096854
|
0.00001
|
|
NM_000277.3(PAH):c.875C>T (p.Pro292Leu)
|
rs1200240274
|
0.00001
|
|
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)
|
rs62642945
|
0.00001
|
|
NM_000277.3(PAH):c.922C>T (p.Leu308Phe)
|
rs62642095
|
0.00001
|
|
NM_000277.3(PAH):c.926C>T (p.Ala309Val)
|
rs62642935
|
0.00001
|
|
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)
|
rs62642936
|
0.00001
|
|
NM_000277.3(PAH):c.937G>A (p.Ala313Thr)
|
rs62642912
|
0.00001
|
|
NM_000277.3(PAH):c.938C>T (p.Ala313Val)
|
rs62642914
|
0.00001
|
|
NM_000277.3(PAH):c.941C>A (p.Pro314His)
|
rs62642940
|
0.00001
|
|
NM_000277.3(PAH):c.968_970del (p.Thr323del)
|
rs199475618
|
0.00001
|
|
NM_000277.3(PAH):c.969+6T>A
|
rs62517196
|
0.00001
|
|
NM_000277.3(PAH):c.970-1G>A
|
rs202183605
|
0.00001
|
|
NM_000277.3(PAH):c.970A>G (p.Ile324Val)
|
rs1221031352
|
0.00001
|
|
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)
|
rs62508578
|
0.00001
|
|
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)
|
rs199475616
|
0.00001
|
|
NM_000277.3(PAH):c.994G>A (p.Gly332Arg)
|
rs1187270724
|
0.00001
|
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
0.00001
|
|
NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln)
|
rs1301904623
|
0.00001
|
|
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)
|
rs1443858896
|
0.00001
|
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
|
NM_000282.4(PCCA):c.1540+1G>C
|
rs199604072
|
0.00001
|
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
|
NM_000282.4(PCCA):c.1747-1G>C
|
rs879253803
|
0.00001
|
|
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)
|
rs776496862
|
0.00001
|
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
0.00001
|
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
|
NM_000282.4(PCCA):c.2041-2A>G
|
rs776281864
|
0.00001
|
|
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)
|
rs1241896966
|
0.00001
|
|
NM_000282.4(PCCA):c.2119-9A>G
|
rs1389933015
|
0.00001
|
|
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)
|
rs1387778734
|
0.00001
|
|
NM_000282.4(PCCA):c.231+1G>C
|
rs972937270
|
0.00001
|
|
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)
|
rs2053984648
|
0.00001
|
|
NM_000282.4(PCCA):c.600+1G>A
|
rs879253802
|
0.00001
|
|
NM_000282.4(PCCA):c.672dup (p.Gly225fs)
|
rs1164986524
|
0.00001
|
|
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)
|
rs778530330
|
0.00001
|
|
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys)
|
rs879253810
|
0.00001
|
|
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)
|
rs879253805
|
0.00001
|
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
|
NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter)
|
rs772057239
|
0.00001
|
|
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)
|
rs749657417
|
0.00001
|
|
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)
|
rs199959402
|
0.00001
|
|
NM_000285.4(PEPD):c.825del (p.Phe275fs)
|
rs750548522
|
0.00001
|
|
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)
|
rs760739894
|
0.00001
|
|
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)
|
rs767447750
|
0.00001
|
|
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter)
|
rs1056238409
|
0.00001
|
|
NM_000286.3(PEX12):c.680+1G>A
|
rs904972651
|
0.00001
|
|
NM_000286.3(PEX12):c.808del (p.Gln270fs)
|
rs2509168104
|
0.00001
|
|
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs)
|
rs1408438094
|
0.00001
|
|
NM_000287.4(PEX6):c.1287del (p.Trp430fs)
|
rs1258472160
|
0.00001
|
|
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)
|
rs61753225
|
0.00001
|
|
NM_000287.4(PEX6):c.1841del (p.Leu614fs)
|
rs863225083
|
0.00001
|
|
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp)
|
rs769896492
|
0.00001
|
|
NM_000287.4(PEX6):c.2362G>A (p.Val788Met)
|
rs267608240
|
0.00001
|
|
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)
|
rs61753229
|
0.00001
|
|
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)
|
rs61753215
|
0.00001
|
|
NM_000288.4(PEX7):c.188+1G>C
|
rs267608254
|
0.00001
|
|
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)
|
rs121909154
|
0.00001
|
|
NM_000288.4(PEX7):c.854A>G (p.His285Arg)
|
rs62653611
|
0.00001
|
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
|
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)
|
rs41291965
|
0.00001
|
|
NM_000289.6(PFKM):c.1413-64A>G
|
rs1202417178
|
0.00001
|
|
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)
|
rs2498573232
|
0.00001
|
|
NM_000289.6(PFKM):c.1500+1G>A
|
rs770066278
|
0.00001
|
|
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr)
|
rs137852534
|
0.00001
|
|
NM_000293.3(PHKB):c.306-2A>G
|
rs797044442
|
0.00001
|
|
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro)
|
rs121918022
|
0.00001
|
|
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro)
|
rs1567261889
|
0.00001
|
|
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys)
|
rs752961445
|
0.00001
|
|
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn)
|
rs767427889
|
0.00001
|
|
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter)
|
rs560414449
|
0.00001
|
|
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)
|
rs199422211
|
0.00001
|
|
NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr)
|
rs1488213352
|
0.00001
|
|
NM_000295.5(SERPINA1):c.646+1G>T
|
rs751235320
|
0.00001
|
|
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
0.00001
|
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
|
NM_000297.4(PKD2):c.181C>T (p.Gln61Ter)
|
rs1355372474
|
0.00001
|
|
NM_000297.4(PKD2):c.1898+5G>A
|
rs1553926929
|
0.00001
|
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
|
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)
|
rs145877597
|
0.00001
|
|
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met)
|
rs74315362
|
0.00001
|
|
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser)
|
rs776594413
|
0.00001
|
|
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)
|
rs774652817
|
0.00001
|
|
NM_000298.6(PKLR):c.1675C>T (p.Arg559Ter)
|
rs532230312
|
0.00001
|
|
NM_000298.6(PKLR):c.307del (p.Arg103fs)
|
rs1433205059
|
0.00001
|
|
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
|
rs1032781250
|
0.00001
|
|
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)
|
rs121913551
|
0.00001
|
|
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)
|
rs759513930
|
0.00001
|
|
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
|
rs1189623251
|
0.00001
|
|
NM_000303.3(PMM2):c.255G>A (p.Gln85=)
|
rs115344041
|
0.00001
|
|
NM_000303.3(PMM2):c.284del (p.Leu95fs)
|
rs757865122
|
0.00001
|
|
NM_000303.3(PMM2):c.310C>G (p.Leu104Val)
|
rs770458492
|
0.00001
|
|
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)
|
rs1274547742
|
0.00001
|
|
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)
|
rs767831048
|
0.00001
|
|
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)
|
rs150577656
|
0.00001
|
|
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
|
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter)
|
rs1057516886
|
0.00001
|
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
0.00001
|
|
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)
|
rs199562225
|
0.00001
|
|
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)
|
rs398123309
|
0.00001
|
|
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)
|
rs78290141
|
0.00001
|
|
NM_000303.3(PMM2):c.66+1G>T
|
rs937726878
|
0.00001
|
|
NM_000303.3(PMM2):c.67-1G>C
|
rs780588364
|
0.00001
|
|
NM_000303.3(PMM2):c.728T>C (p.Leu243Pro)
|
rs2060937980
|
0.00001
|
|
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter)
|
rs761275346
|
0.00001
|
|
NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys)
|
rs104893764
|
0.00001
|
|
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter)
|
rs1189568492
|
0.00001
|
|
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg)
|
rs137854541
|
0.00001
|
|
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter)
|
rs200565348
|
0.00001
|
|
NM_000310.4(PPT1):c.124+1G>A
|
rs386833628
|
0.00001
|
|
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)
|
rs386833639
|
0.00001
|
|
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)
|
rs386833642
|
0.00001
|
|
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)
|
rs386833645
|
0.00001
|
|
NM_000310.4(PPT1):c.424C>T (p.Gln142Ter)
|
rs796052925
|
0.00001
|
|
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)
|
rs386833649
|
0.00001
|
|
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)
|
rs386833655
|
0.00001
|
|
NM_000310.4(PPT1):c.628-1G>T
|
rs386833659
|
0.00001
|
|
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)
|
rs386833661
|
0.00001
|
|
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)
|
rs746043871
|
0.00001
|
|
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)
|
rs386833665
|
0.00001
|
|
NM_000310.4(PPT1):c.776dup (p.Glu260fs)
|
rs1349528345
|
0.00001
|
|
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu)
|
rs1211098698
|
0.00001
|
|
NM_000312.4(PROC):c.631C>T (p.Arg211Trp)
|
rs121918143
|
0.00001
|
|
NM_000312.4(PROC):c.659G>A (p.Arg220Gln)
|
rs121918153
|
0.00001
|
|
NM_000312.4(PROC):c.935C>T (p.Ser312Leu)
|
rs121918160
|
0.00001
|
|
NM_000312.4(PROC):c.962C>T (p.Pro321Leu)
|
rs1321566264
|
0.00001
|
|
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser)
|
rs1859965098
|
0.00001
|
|
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)
|
rs121913293
|
0.00001
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
0.00001
|
|
NM_000317.3(PTS):c.186+1G>T
|
rs1256819927
|
0.00001
|
|
NM_000317.3(PTS):c.187A>G (p.Ile63Val)
|
rs778053171
|
0.00001
|
|
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
|
NM_000317.3(PTS):c.367C>T (p.Pro123Ser)
|
rs141163668
|
0.00001
|
|
NM_000317.3(PTS):c.407A>T (p.Asp136Val)
|
rs1859972447
|
0.00001
|
|
NM_000317.3(PTS):c.74_76dup (p.Leu26Ter)
|
rs765777664
|
0.00001
|
|
NM_000318.3(PEX2):c.-17-2A>G
|
rs1289852067
|
0.00001
|
|
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter)
|
rs1224562361
|
0.00001
|
|
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
|
rs1806926984
|
0.00001
|
|
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter)
|
rs2132044384
|
0.00001
|
|
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)
|
rs61752124
|
0.00001
|
|
NM_000318.3(PEX2):c.624dup (p.Pro209fs)
|
rs1438831421
|
0.00001
|
|
NM_000320.3(QDPR):c.344C>T (p.Ser115Leu)
|
rs1407920390
|
0.00001
|
|
NM_000320.3(QDPR):c.41T>C (p.Leu14Pro)
|
rs756639609
|
0.00001
|
|
NM_000320.3(QDPR):c.472C>T (p.His158Tyr)
|
rs750201480
|
0.00001
|
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
|
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)
|
rs527236098
|
0.00001
|
|
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys)
|
rs779414078
|
0.00001
|
|
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro)
|
rs121918563
|
0.00001
|
|
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)
|
rs121918567
|
0.00001
|
|
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu)
|
rs61755806
|
0.00001
|
|
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln)
|
rs61755810
|
0.00001
|
|
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe)
|
rs61755766
|
0.00001
|
|
NM_000326.5(RLBP1):c.141+2T>C
|
rs760650165
|
0.00001
|
|
NM_000326.5(RLBP1):c.282del (p.Phe95fs)
|
rs759505780
|
0.00001
|
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
|
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)
|
rs62636298
|
0.00001
|
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
0.00001
|
|
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
|
rs61751282
|
0.00001
|
|
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)
|
rs749242996
|
0.00001
|
|
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)
|
rs281865285
|
0.00001
|
|
NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)
|
rs61752875
|
0.00001
|
|
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)
|
rs1571170561
|
0.00001
|
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
|
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)
|
rs1171545533
|
0.00001
|
|
NM_000329.3(RPE65):c.938A>G (p.His313Arg)
|
rs1375943362
|
0.00001
|
|
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)
|
rs1169420841
|
0.00001
|
|
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup)
|
rs1571165140
|
0.00001
|
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
|
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)
|
rs61753171
|
0.00001
|
|
NM_000330.4(RS1):c.590G>A (p.Arg197His)
|
rs281865355
|
0.00001
|
|
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)
|
rs121908556
|
0.00001
|
|
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)
|
rs879253789
|
0.00001
|
|
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr)
|
rs1318966106
|
0.00001
|
|
NM_000334.4(SCN4A):c.665G>A (p.Arg222Gln)
|
rs865887222
|
0.00001
|
|
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn)
|
rs779687673
|
0.00001
|
|
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn)
|
rs199473565
|
0.00001
|
|
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)
|
rs199473097
|
0.00001
|
|
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=)
|
rs1204915217
|
0.00001
|
|
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln)
|
rs199473584
|
0.00001
|
|
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys)
|
rs199473171
|
0.00001
|
|
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His)
|
rs199473172
|
0.00001
|
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
|
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser)
|
rs137854616
|
0.00001
|
|
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr)
|
rs199473224
|
0.00001
|
|
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp)
|
rs137854602
|
0.00001
|
|
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys)
|
rs199473062
|
0.00001
|
|
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)
|
rs199473282
|
0.00001
|
|
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)
|
rs199473286
|
0.00001
|
|
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)
|
rs28937316
|
0.00001
|
|
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
|
rs137854604
|
0.00001
|
|
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg)
|
rs199473305
|
0.00001
|
|
NM_000335.5(SCN5A):c.656G>A (p.Arg219His)
|
rs878855296
|
0.00001
|
|
NM_000335.5(SCN5A):c.845G>A (p.Arg282His)
|
rs199473083
|
0.00001
|
|
NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly)
|
rs1567314296
|
0.00001
|
|
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln)
|
rs780619649
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)
|
rs121909744
|
0.00001
|
|
NM_000340.2(SLC2A2):c.775+1G>A
|
rs756874949
|
0.00001
|
|
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)
|
rs778354350
|
0.00001
|
|
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)
|
rs28931584
|
0.00001
|
|
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys)
|
rs1398477044
|
0.00001
|
|
NM_000342.4(SLC4A1):c.1476G>A (p.Trp492Ter)
|
rs1359458155
|
0.00001
|
|
NM_000344.4(SMN1):c.835-3C>T
|
rs772466166
|
0.00001
|
|
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter)
|
rs1060499834
|
0.00001
|
|
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro)
|
rs764433016
|
0.00001
|
|
NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter)
|
rs1200261940
|
0.00001
|
|
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp)
|
rs767564684
|
0.00001
|
|
NM_000349.3(STAR):c.135del (p.Ser46fs)
|
rs193922393
|
0.00001
|
|
NM_000349.3(STAR):c.229C>T (p.Gln77Ter)
|
rs781281145
|
0.00001
|
|
NM_000349.3(STAR):c.465+2T>C
|
rs777876822
|
0.00001
|
|
NM_000349.3(STAR):c.545G>A (p.Arg182His)
|
rs104894086
|
0.00001
|
|
NM_000349.3(STAR):c.559G>A (p.Val187Met)
|
rs104894089
|
0.00001
|
|
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser)
|
rs794726979
|
0.00001
|
|
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)
|
rs61748552
|
0.00001
|
|
NM_000350.3(ABCA4):c.1529T>C (p.Leu510Pro)
|
rs886039299
|
0.00001
|
|
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)
|
rs61748558
|
0.00001
|
|
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)
|
rs61752398
|
0.00001
|
|
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)
|
rs61749414
|
0.00001
|
|
NM_000350.3(ABCA4):c.1938-1G>A
|
rs61751263
|
0.00001
|
|
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)
|
rs61749420
|
0.00001
|
|
NM_000350.3(ABCA4):c.1A>G (p.Met1Val)
|
rs201738997
|
0.00001
|
|
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)
|
rs575453437
|
0.00001
|
|
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)
|
rs62654397
|
0.00001
|
|
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)
|
rs61751412
|
0.00001
|
|
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)
|
rs61749428
|
0.00001
|
|
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)
|
rs374410829
|
0.00001
|
|
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)
|
rs746566873
|
0.00001
|
|
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)
|
rs61749450
|
0.00001
|
|
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg)
|
rs61749456
|
0.00001
|
|
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)
|
rs61749459
|
0.00001
|
|
NM_000350.3(ABCA4):c.3094G>C (p.Gly1032Arg)
|
rs771495707
|
0.00001
|
|
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp)
|
rs886039300
|
0.00001
|
|
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)
|
rs62645946
|
0.00001
|
|
NM_000350.3(ABCA4):c.3329-1G>A
|
rs544428779
|
0.00001
|
|
NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr)
|
rs369440533
|
0.00001
|
|
NM_000350.3(ABCA4):c.3389T>C (p.Ile1130Thr)
|
rs1064793010
|
0.00001
|
|
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)
|
rs768278935
|
0.00001
|
|
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter)
|
rs61752428
|
0.00001
|
|
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)
|
rs61750135
|
0.00001
|
|
NM_000350.3(ABCA4):c.4253+4C>T
|
rs61754044
|
0.00001
|
|
NM_000350.3(ABCA4):c.4253+5G>A
|
rs61750138
|
0.00001
|
|
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)
|
rs62646860
|
0.00001
|
|
NM_000350.3(ABCA4):c.4352+1G>A
|
rs200967229
|
0.00001
|
|
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)
|
rs758835368
|
0.00001
|
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
|
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)
|
rs61750147
|
0.00001
|
|
NM_000350.3(ABCA4):c.4532C>A (p.Pro1511His)
|
rs886046564
|
0.00001
|
|
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)
|
rs62646861
|
0.00001
|
|
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr)
|
rs1385119665
|
0.00001
|
|
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)
|
rs777415466
|
0.00001
|
|
NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro)
|
rs61750153
|
0.00001
|
|
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)
|
rs61750155
|
0.00001
|
|
NM_000350.3(ABCA4):c.4849-1G>A
|
rs61750156
|
0.00001
|
|
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)
|
rs61753017
|
0.00001
|
|
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)
|
rs1211325812
|
0.00001
|
|
NM_000350.3(ABCA4):c.5018+2T>C
|
rs61750562
|
0.00001
|
|
NM_000350.3(ABCA4):c.5018+5G>A
|
rs1553188588
|
0.00001
|
|
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)
|
rs771038310
|
0.00001
|
|
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys)
|
rs374343397
|
0.00001
|
|
NM_000350.3(ABCA4):c.5138A>G (p.Gln1713Arg)
|
rs755826006
|
0.00001
|
|
NM_000350.3(ABCA4):c.5196+1056A>G
|
rs886044749
|
0.00001
|
|
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)
|
rs61750571
|
0.00001
|
|
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)
|
rs760549861
|
0.00001
|
|
NM_000350.3(ABCA4):c.5324T>A (p.Ile1775Asn)
|
rs771742619
|
0.00001
|
|
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu)
|
rs1553187939
|
0.00001
|
|
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)
|
rs377311148
|
0.00001
|
|
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)
|
rs371489809
|
0.00001
|
|
NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp)
|
rs200849015
|
0.00001
|
|
NM_000350.3(ABCA4):c.5822del (p.His1941fs)
|
rs1659465707
|
0.00001
|
|
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)
|
rs61750639
|
0.00001
|
|
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
|
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)
|
rs61753038
|
0.00001
|
|
NM_000350.3(ABCA4):c.6289C>T (p.Pro2097Ser)
|
rs1166357291
|
0.00001
|
|
NM_000350.3(ABCA4):c.6306C>A (p.Asp2102Glu)
|
rs568627877
|
0.00001
|
|
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)
|
rs1057520213
|
0.00001
|
|
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
|
rs61748520
|
0.00001
|
|
NM_000350.3(ABCA4):c.6386+2C>G
|
rs61753043
|
0.00001
|
|
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)
|
rs61750652
|
0.00001
|
|
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)
|
rs61750654
|
0.00001
|
|
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)
|
rs61748538
|
0.00001
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
0.00001
|
|
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)
|
rs781716640
|
0.00001
|
|
NM_000350.3(ABCA4):c.885del (p.Leu296fs)
|
rs764759172
|
0.00001
|
|
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)
|
rs542947894
|
0.00001
|
|
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)
|
rs760062120
|
0.00001
|
|
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)
|
rs751279984
|
0.00001
|
|
NM_000352.6(ABCC8):c.2116+2T>C
|
rs786204676
|
0.00001
|
|
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)
|
rs1554924035
|
0.00001
|
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
0.00001
|
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
0.00001
|
|
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)
|
rs755259997
|
0.00001
|
|
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)
|
rs761749884
|
0.00001
|
|
NM_000352.6(ABCC8):c.3400-1G>A
|
rs576684889
|
0.00001
|
|
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
|
rs797045209
|
0.00001
|
|
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)
|
rs367850779
|
0.00001
|
|
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)
|
rs781617345
|
0.00001
|
|
NM_000352.6(ABCC8):c.4119+1G>A
|
rs797045211
|
0.00001
|
|
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)
|
rs776610373
|
0.00001
|
|
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)
|
rs1468762603
|
0.00001
|
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
|
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg)
|
rs971604271
|
0.00001
|
|
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)
|
rs72559716
|
0.00001
|
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
|
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)
|
rs28936371
|
0.00001
|
|
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)
|
rs746480424
|
0.00001
|
|
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)
|
rs72559713
|
0.00001
|
|
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)
|
rs756823374
|
0.00001
|
|
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)
|
rs770664202
|
0.00001
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
0.00001
|
|
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)
|
rs769569410
|
0.00001
|
|
NM_000352.6(ABCC8):c.970G>A (p.Val324Met)
|
rs1328072266
|
0.00001
|
|
NM_000353.3(TAT):c.1250G>A (p.Arg417Gln)
|
rs757879229
|
0.00001
|
|
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)
|
rs761817519
|
0.00001
|
|
NM_000353.3(TAT):c.355C>T (p.Arg119Trp)
|
rs758306831
|
0.00001
|
|
NM_000353.3(TAT):c.889C>T (p.Arg297Ter)
|
rs758491525
|
0.00001
|
|
NM_000353.3(TAT):c.916C>T (p.Arg306Ter)
|
rs1316166172
|
0.00001
|
|
NM_000355.4(TCN2):c.350_351insAC (p.Phe118fs)
|
rs1371200045
|
0.00001
|
|
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter)
|
rs1198019350
|
0.00001
|
|
NM_000359.3(TGM1):c.1075G>A (p.Val359Met)
|
rs202037016
|
0.00001
|
|
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys)
|
rs543521135
|
0.00001
|
|
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser)
|
rs904122716
|
0.00001
|
|
NM_000359.3(TGM1):c.1645+1G>T
|
rs774242987
|
0.00001
|
|
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)
|
rs397514522
|
0.00001
|
|
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter)
|
rs886041950
|
0.00001
|
|
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys)
|
rs201853046
|
0.00001
|
|
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)
|
rs886041250
|
0.00001
|
|
NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys)
|
rs147916609
|
0.00001
|
|
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys)
|
rs121918716
|
0.00001
|
|
NM_000359.3(TGM1):c.428G>A (p.Arg143His)
|
rs121918719
|
0.00001
|
|
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg)
|
rs778635368
|
0.00001
|
|
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter)
|
rs199678720
|
0.00001
|
|
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser)
|
rs121918732
|
0.00001
|
|
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)
|
rs201868387
|
0.00001
|
|
NM_000359.3(TGM1):c.802del (p.Val268fs)
|
rs1322979131
|
0.00001
|
|
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp)
|
rs780990272
|
0.00001
|
|
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys)
|
rs397514525
|
0.00001
|
|
NM_000360.4(TH):c.1103C>T (p.Thr368Met)
|
rs1057520384
|
0.00001
|
|
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)
|
rs121917762
|
0.00001
|
|
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)
|
rs786204540
|
0.00001
|
|
NM_000360.4(TH):c.203del (p.Leu68fs)
|
rs1554923852
|
0.00001
|
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
|
NM_000360.4(TH):c.641G>T (p.Arg214Met)
|
rs562363231
|
0.00001
|
|
NM_000360.4(TH):c.646G>A (p.Gly216Ser)
|
rs762304556
|
0.00001
|
|
NM_000360.4(TH):c.850G>A (p.Gly284Ser)
|
rs1288483479
|
0.00001
|
|
NM_000362.5(TIMP3):c.113C>G (p.Ser38Cys)
|
rs1270675463
|
0.00001
|
|
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)
|
rs104894724
|
0.00001
|
|
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)
|
rs397516349
|
0.00001
|
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
|
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val)
|
rs727504285
|
0.00001
|
|
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val)
|
rs397516359
|
0.00001
|
|
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys)
|
rs727504243
|
0.00001
|
|
NM_000369.5(TSHR):c.122G>C (p.Cys41Ser)
|
rs121908869
|
0.00001
|
|
NM_000369.5(TSHR):c.1430C>T (p.Thr477Ile)
|
rs121908881
|
0.00001
|
|
NM_000369.5(TSHR):c.1839C>G (p.Tyr613Ter)
|
rs756468029
|
0.00001
|
|
NM_000369.5(TSHR):c.928C>T (p.Arg310Cys)
|
rs121908882
|
0.00001
|
|
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)
|
rs397515522
|
0.00001
|
|
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)
|
rs786204758
|
0.00001
|
|
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)
|
rs397515524
|
0.00001
|
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00001
|
|
NM_000371.4(TTR):c.130C>T (p.Pro44Ser)
|
rs11541790
|
0.00001
|
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
|
NM_000371.4(TTR):c.239C>T (p.Thr80Ile)
|
rs1254341785
|
0.00001
|
|
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)
|
rs267607161
|
0.00001
|
|
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
|
rs121918083
|
0.00001
|
|
NM_000372.5(TYR):c.1036+1G>A
|
rs763715899
|
0.00001
|
|
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)
|
rs1013801316
|
0.00001
|
|
NM_000372.5(TYR):c.1037G>T (p.Gly346Val)
|
rs773970123
|
0.00001
|
|
NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys)
|
rs149912348
|
0.00001
|
|
NM_000372.5(TYR):c.116G>A (p.Trp39Ter)
|
rs775683960
|
0.00001
|
|
NM_000372.5(TYR):c.1200G>T (p.Trp400Cys)
|
rs145610977
|
0.00001
|
|
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)
|
rs104894316
|
0.00001
|
|
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)
|
rs61754392
|
0.00001
|
|
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)
|
rs104894318
|
0.00001
|
|
NM_000372.5(TYR):c.1346A>G (p.Tyr449Cys)
|
rs1944765423
|
0.00001
|
|
NM_000372.5(TYR):c.1501dup (p.Arg501fs)
|
rs281865328
|
0.00001
|
|
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)
|
rs61753187
|
0.00001
|
|
NM_000372.5(TYR):c.290G>T (p.Gly97Val)
|
rs1320376090
|
0.00001
|
|
NM_000372.5(TYR):c.607G>T (p.Glu203Ter)
|
rs778881311
|
0.00001
|
|
NM_000372.5(TYR):c.616G>A (p.Ala206Thr)
|
rs28940880
|
0.00001
|
|
NM_000372.5(TYR):c.635G>A (p.Arg212Lys)
|
rs377209424
|
0.00001
|
|
NM_000372.5(TYR):c.707G>A (p.Trp236Ter)
|
rs61754367
|
0.00001
|
|
NM_000372.5(TYR):c.863T>C (p.Leu288Ser)
|
rs1463109821
|
0.00001
|
|
NM_000372.5(TYR):c.864A>T (p.Leu288Phe)
|
rs371985121
|
0.00001
|
|
NM_000372.5(TYR):c.865T>C (p.Cys289Arg)
|
rs1468041471
|
0.00001
|
|
NM_000372.5(TYR):c.880G>A (p.Glu294Lys)
|
rs757754120
|
0.00001
|
|
NM_000374.5(UROD):c.138T>A (p.Phe46Leu)
|
rs769378741
|
0.00001
|
|
NM_000374.5(UROD):c.494T>G (p.Met165Arg)
|
rs121918063
|
0.00001
|
|
NM_000374.5(UROD):c.616C>T (p.Gln206Ter)
|
rs771824413
|
0.00001
|
|
NM_000379.4(XDH):c.682C>T (p.Arg228Ter)
|
rs119460972
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)
|
rs72547575
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)
|
rs67939114
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.1443+1G>A
|
rs199548781
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.191T>A (p.Val64Asp)
|
rs72547556
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.554G>A (p.Gly185Glu)
|
rs72547563
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)
|
rs72547566
|
0.00001
|
|
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs)
|
rs386833672
|
0.00001
|
|
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs)
|
rs763695515
|
0.00001
|
|
NM_000383.4(AIRE):c.1566+2T>A
|
rs1057516985
|
0.00001
|
|
NM_000383.4(AIRE):c.1A>G (p.Met1Val)
|
rs121434258
|
0.00001
|
|
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)
|
rs1231469574
|
0.00001
|
|
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu)
|
rs179363876
|
0.00001
|
|
NM_000383.4(AIRE):c.463+2T>C
|
rs786204478
|
0.00001
|
|
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)
|
rs193922418
|
0.00001
|
|
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)
|
rs179363886
|
0.00001
|
|
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)
|
rs179363878
|
0.00001
|
|
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu)
|
rs179363885
|
0.00001
|
|
NM_000384.3(APOB):c.1672C>T (p.Arg558Ter)
|
rs878853970
|
0.00001
|
|
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter)
|
rs121918390
|
0.00001
|
|
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
|
rs146377316
|
0.00001
|
|
NM_000387.6(SLC25A20):c.109C>T (p.Arg37Ter)
|
rs776288377
|
0.00001
|
|
NM_000387.6(SLC25A20):c.533G>A (p.Arg178Gln)
|
rs754563147
|
0.00001
|
|
NM_000387.6(SLC25A20):c.691G>C (p.Asp231His)
|
rs577331691
|
0.00001
|
|
NM_000387.6(SLC25A20):c.823C>T (p.Arg275Ter)
|
rs1330578621
|
0.00001
|
|
NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln)
|
rs376342597
|
0.00001
|
|
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg)
|
rs1064794291
|
0.00001
|
|
NM_000388.4(CASR):c.206G>A (p.Arg69His)
|
rs193922432
|
0.00001
|
|
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)
|
rs140022350
|
0.00001
|
|
NM_000388.4(CASR):c.427G>A (p.Gly143Arg)
|
rs769256610
|
0.00001
|
|
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter)
|
rs786205604
|
0.00001
|
|
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)
|
rs750428882
|
0.00001
|
|
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
|
NM_000391.4(TPP1):c.1076-2A>G
|
rs1424116749
|
0.00001
|
|
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)
|
rs119455953
|
0.00001
|
|
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)
|
rs119455956
|
0.00001
|
|
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)
|
rs398122959
|
0.00001
|
|
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg)
|
rs121908203
|
0.00001
|
|
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
|
rs121908202
|
0.00001
|
|
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly)
|
rs1192702664
|
0.00001
|
|
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)
|
rs1184563885
|
0.00001
|
|
NM_000391.4(TPP1):c.1551+1G>C
|
rs786204553
|
0.00001
|
|
NM_000391.4(TPP1):c.1593dup (p.Glu532fs)
|
rs1216139602
|
0.00001
|
|
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)
|
rs121908195
|
0.00001
|
|
NM_000391.4(TPP1):c.617G>A (p.Arg206His)
|
rs121908209
|
0.00001
|
|
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)
|
rs796053439
|
0.00001
|
|
NM_000392.5(ABCC2):c.2260del (p.Ile754fs)
|
rs1564687941
|
0.00001
|
|
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs)
|
rs772673105
|
0.00001
|
|
NM_000392.5(ABCC2):c.3811C>T (p.Arg1271Ter)
|
rs761406918
|
0.00001
|
|
NM_000392.5(ABCC2):c.4144C>T (p.Gln1382Ter)
|
rs754267460
|
0.00001
|
|
NM_000396.4(CTSK):c.121-1G>A
|
rs587663163
|
0.00001
|
|
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)
|
rs371277428
|
0.00001
|
|
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg)
|
rs74315302
|
0.00001
|
|
NM_000396.4(CTSK):c.894G>A (p.Trp298Ter)
|
rs1237746431
|
0.00001
|
|
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)
|
rs29001685
|
0.00001
|
|
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)
|
rs543277216
|
0.00001
|
|
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)
|
rs121965018
|
0.00001
|
|
NM_000400.4(ERCC2):c.1759-2A>G
|
rs774936846
|
0.00001
|
|
NM_000400.4(ERCC2):c.1963G>T (p.Asp655Tyr)
|
rs1411740455
|
0.00001
|
|
NM_000400.4(ERCC2):c.1973G>A (p.Arg658His)
|
rs762141272
|
0.00001
|
|
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp)
|
rs752510317
|
0.00001
|
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
|
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)
|
rs749980306
|
0.00001
|
|
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)
|
rs748345527
|
0.00001
|
|
NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter)
|
rs2125469895
|
0.00001
|
|
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)
|
rs757926581
|
0.00001
|
|
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)
|
rs72555365
|
0.00001
|
|
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)
|
rs968221254
|
0.00001
|
|
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)
|
rs72555358
|
0.00001
|
|
NM_000404.4(GLB1):c.1479+1G>A
|
rs1022476871
|
0.00001
|
|
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys)
|
rs72555363
|
0.00001
|
|
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)
|
rs776327443
|
0.00001
|
|
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)
|
rs778375259
|
0.00001
|
|
NM_000404.4(GLB1):c.245+1G>A
|
rs778423653
|
0.00001
|
|
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)
|
rs72555393
|
0.00001
|
|
NM_000404.4(GLB1):c.443G>A (p.Arg148His)
|
rs745864233
|
0.00001
|
|
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)
|
rs398123355
|
0.00001
|
|
NM_000404.4(GLB1):c.569G>A (p.Gly190Asp)
|
rs756575833
|
0.00001
|
|
NM_000404.4(GLB1):c.699del (p.Gln234fs)
|
rs1452318343
|
0.00001
|
|
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)
|
rs746766232
|
0.00001
|
|
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)
|
rs376663785
|
0.00001
|
|
NM_000404.4(GLB1):c.902C>T (p.Ala301Val)
|
rs750531880
|
0.00001
|
|
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg)
|
rs368568171
|
0.00001
|
|
NM_000406.3(GNRHR):c.268G>A (p.Glu90Lys)
|
rs104893844
|
0.00001
|
|
NM_000406.3(GNRHR):c.847T>C (p.Tyr283His)
|
rs1237982349
|
0.00001
|
|
NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys)
|
rs28933074
|
0.00001
|
|
NM_000410.4(HFE):c.211C>T (p.Arg71Ter)
|
rs759524388
|
0.00001
|
|
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)
|
rs587777442
|
0.00001
|
|
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
|
rs766199971
|
0.00001
|
|
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)
|
rs587777443
|
0.00001
|
|
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)
|
rs1038744864
|
0.00001
|
|
NM_000414.4(HSD17B4):c.1768-1G>A
|
rs1359482508
|
0.00001
|
|
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter)
|
rs751646311
|
0.00001
|
|
NM_000414.4(HSD17B4):c.58+1G>T
|
rs1260517680
|
0.00001
|
|
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)
|
rs969485098
|
0.00001
|
|
NM_000414.4(HSD17B4):c.751C>T (p.Arg251Trp)
|
rs771780974
|
0.00001
|
|
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn)
|
rs1214448436
|
0.00001
|
|
NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp)
|
rs2048591163
|
0.00001
|
|
NM_000419.5(ITGA2B):c.1651C>T (p.Arg551Trp)
|
rs1261397461
|
0.00001
|
|
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala)
|
rs778608263
|
0.00001
|
|
NM_000419.5(ITGA2B):c.1946+1G>A
|
rs746091910
|
0.00001
|
|
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro)
|
rs74475415
|
0.00001
|
|
NM_000419.5(ITGA2B):c.409-1G>A
|
rs1393747638
|
0.00001
|
|
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala)
|
rs2048640485
|
0.00001
|
|
NM_000419.5(ITGA2B):c.559del (p.Val187fs)
|
rs1469711487
|
0.00001
|
|
NM_000422.3(KRT17):c.281G>A (p.Arg94His)
|
rs28928897
|
0.00001
|
|
NM_000426.4(LAMA2):c.112+1G>A
|
rs398123367
|
0.00001
|
|
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)
|
rs773209126
|
0.00001
|
|
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg)
|
rs121913573
|
0.00001
|
|
NM_000426.4(LAMA2):c.2749+1G>C
|
rs759555791
|
0.00001
|
|
NM_000426.4(LAMA2):c.2749+2dup
|
rs759144210
|
0.00001
|
|
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr)
|
rs374403765
|
0.00001
|
|
NM_000426.4(LAMA2):c.3038-7G>A
|
rs767841898
|
0.00001
|
|
NM_000426.4(LAMA2):c.3556-13T>A
|
rs775278003
|
0.00001
|
|
NM_000426.4(LAMA2):c.3829C>T (p.Arg1277Ter)
|
rs1554269891
|
0.00001
|
|
NM_000426.4(LAMA2):c.396+1G>T
|
rs770617208
|
0.00001
|
|
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)
|
rs200923373
|
0.00001
|
|
NM_000426.4(LAMA2):c.442C>T (p.Arg148Trp)
|
rs752485547
|
0.00001
|
|
NM_000426.4(LAMA2):c.4717+1G>T
|
rs1131691660
|
0.00001
|
|
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter)
|
rs762342110
|
0.00001
|
|
NM_000426.4(LAMA2):c.5602G>T (p.Glu1868Ter)
|
rs1276300668
|
0.00001
|
|
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs)
|
rs398123377
|
0.00001
|
|
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)
|
rs398123378
|
0.00001
|
|
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)
|
rs398123383
|
0.00001
|
|
NM_000426.4(LAMA2):c.6993-2A>C
|
rs200669208
|
0.00001
|
|
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter)
|
rs762806915
|
0.00001
|
|
NM_000426.4(LAMA2):c.8244+1G>A
|
rs749522728
|
0.00001
|
|
NM_000426.4(LAMA2):c.8703+1G>A
|
rs1446002589
|
0.00001
|
|
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter)
|
rs1034133545
|
0.00001
|
|
NM_000429.3(MAT1A):c.595C>T (p.Arg199Cys)
|
rs773267230
|
0.00001
|
|
NM_000429.3(MAT1A):c.874C>T (p.Arg292Cys)
|
rs372852106
|
0.00001
|
|
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser)
|
rs104895358
|
0.00001
|
|
NM_000431.4(MVK):c.500C>T (p.Pro167Leu)
|
rs104895300
|
0.00001
|
|
NM_000431.4(MVK):c.604G>A (p.Gly202Arg)
|
rs104895301
|
0.00001
|
|
NM_000431.4(MVK):c.613A>G (p.Asn205Asp)
|
rs104895364
|
0.00001
|
|
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln)
|
rs104894369
|
0.00001
|
|
NM_000434.4(NEU1):c.3G>A (p.Met1Ile)
|
rs747097352
|
0.00001
|
|
NM_000434.4(NEU1):c.544A>G (p.Ser182Gly)
|
rs398123392
|
0.00001
|
|
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg)
|
rs769765227
|
0.00001
|
|
NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr)
|
rs104893977
|
0.00001
|
|
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys)
|
rs1323608032
|
0.00001
|
|
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys)
|
rs1202763005
|
0.00001
|
|
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)
|
rs777751303
|
0.00001
|
|
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)
|
rs1057519101
|
0.00001
|
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
|
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys)
|
rs1438626607
|
0.00001
|
|
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)
|
rs1266914122
|
0.00001
|
|
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)
|
rs28933697
|
0.00001
|
|
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)
|
rs775267348
|
0.00001
|
|
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys)
|
rs1327401976
|
0.00001
|
|
NM_000440.3(PDE6A):c.1407+1G>C
|
rs781616522
|
0.00001
|
|
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)
|
rs144484128
|
0.00001
|
|
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)
|
rs753942596
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1150-1G>A
|
rs1791525285
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)
|
rs201562855
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)
|
rs147952620
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)
|
rs1293971731
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)
|
rs142498437
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)
|
rs397516416
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)
|
rs786204739
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1615-2A>G
|
rs758823761
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)
|
rs111033257
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)
|
rs397516424
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)
|
rs200455203
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro)
|
rs727504303
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn)
|
rs777641484
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)
|
rs749013429
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)
|
rs1060499808
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)
|
rs752807925
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)
|
rs1045933779
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2319+1G>A
|
rs542079779
|
0.00001
|
|
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr)
|
rs1554352718
|
0.00001
|
|
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val)
|
rs1562822565
|
0.00001
|
|
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)
|
rs786204426
|
0.00001
|
|
NM_000441.2(SLC26A4):c.415+7A>G
|
rs765884316
|
0.00001
|
|
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)
|
rs1205712508
|
0.00001
|
|
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)
|
rs111033348
|
0.00001
|
|
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)
|
rs397516430
|
0.00001
|
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00001
|
|
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)
|
rs539699299
|
0.00001
|
|
NM_000441.2(SLC26A4):c.916dup (p.Val306fs)
|
rs768245266
|
0.00001
|
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
|
NM_000443.4(ABCB4):c.1216C>T (p.Arg406Ter)
|
rs753420538
|
0.00001
|
|
NM_000443.4(ABCB4):c.1318C>T (p.Gln440Ter)
|
rs1265221541
|
0.00001
|
|
NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp)
|
rs1444056772
|
0.00001
|
|
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)
|
rs141677867
|
0.00001
|
|
NM_000443.4(ABCB4):c.2833C>T (p.Gln945Ter)
|
rs886042562
|
0.00001
|
|
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
|
rs779829759
|
0.00001
|
|
NM_000443.4(ABCB4):c.3349C>T (p.Gln1117Ter)
|
rs148279875
|
0.00001
|
|
NM_000443.4(ABCB4):c.3486+1G>A
|
rs764513998
|
0.00001
|
|
NM_000444.6(PHEX):c.*231A>G
|
rs946863800
|
0.00001
|
|
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp)
|
rs199776076
|
0.00001
|
|
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)
|
rs760816389
|
0.00001
|
|
NM_000448.3(RAG1):c.2291G>A (p.Arg764His)
|
rs768809293
|
0.00001
|
|
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp)
|
rs121918572
|
0.00001
|
|
NM_000448.3(RAG1):c.2918G>A (p.Arg973His)
|
rs1384545687
|
0.00001
|
|
NM_000448.3(RAG1):c.2981A>G (p.His994Arg)
|
rs775412266
|
0.00001
|
|
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr)
|
rs121918571
|
0.00001
|
|
NM_000451.4(SHOX):c.335A>C (p.Gln112Pro)
|
rs757391565
|
0.00001
|
|
NM_000451.4(SHOX):c.440G>A (p.Arg147His)
|
rs886043634
|
0.00001
|
|
NM_000453.3(SLC5A5):c.1546C>T (p.Arg516Ter)
|
rs371248346
|
0.00001
|
|
NM_000454.5(SOD1):c.197A>G (p.Asn66Ser)
|
rs1568810275
|
0.00001
|
|
NM_000454.5(SOD1):c.269C>T (p.Ala90Val)
|
rs1280042397
|
0.00001
|
|
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)
|
rs121912441
|
0.00001
|
|
NM_000454.5(SOD1):c.358G>C (p.Val120Leu)
|
rs1457889952
|
0.00001
|
|
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)
|
rs1424014997
|
0.00001
|
|
NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg)
|
rs1476500325
|
0.00001
|
|
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu)
|
rs62625011
|
0.00001
|
|
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)
|
rs796666047
|
0.00001
|
|
NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter)
|
rs796666047
|
0.00001
|
|
NM_000465.4(BARD1):c.1678-1G>T
|
rs767208318
|
0.00001
|
|
NM_000465.4(BARD1):c.1817_1818del (p.His606fs)
|
rs587782897
|
0.00001
|
|
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)
|
rs730881422
|
0.00001
|
|
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter)
|
rs758972589
|
0.00001
|
|
NM_000466.3(PEX1):c.1099del (p.Gln367fs)
|
rs1403870448
|
0.00001
|
|
NM_000466.3(PEX1):c.1126del (p.Glu376fs)
|
rs751829426
|
0.00001
|
|
NM_000466.3(PEX1):c.1239G>A (p.Trp413Ter)
|
rs267608175
|
0.00001
|
|
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)
|
rs61750409
|
0.00001
|
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
|
NM_000466.3(PEX1):c.1A>T (p.Met1Leu)
|
rs1057517501
|
0.00001
|
|
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)
|
rs398123409
|
0.00001
|
|
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)
|
rs866184460
|
0.00001
|
|
NM_000466.3(PEX1):c.2859dup (p.Thr954fs)
|
rs1057517472
|
0.00001
|
|
NM_000466.3(PEX1):c.2926+2T>C
|
rs267608180
|
0.00001
|
|
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)
|
rs1484321655
|
0.00001
|
|
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs)
|
rs61750430
|
0.00001
|
|
NM_000466.3(PEX1):c.3208-1G>A
|
rs1057517518
|
0.00001
|
|
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)
|
rs886043558
|
0.00001
|
|
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)
|
rs762679408
|
0.00001
|
|
NM_000478.6(ALPL):c.110T>C (p.Leu37Pro)
|
rs143358506
|
0.00001
|
|
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val)
|
rs756418235
|
0.00001
|
|
NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn)
|
rs746390776
|
0.00001
|
|
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val)
|
rs772682471
|
0.00001
|
|
NM_000478.6(ALPL):c.119C>T (p.Ala40Val)
|
rs770093969
|
0.00001
|
|
NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys)
|
rs966212736
|
0.00001
|
|
NM_000478.6(ALPL):c.1375G>A (p.Val459Met)
|
rs1054159992
|
0.00001
|
|
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)
|
rs766656419
|
0.00001
|
|
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys)
|
rs1057517173
|
0.00001
|
|
NM_000478.6(ALPL):c.1429C>T (p.Gln477Ter)
|
rs1644755604
|
0.00001
|
|
NM_000478.6(ALPL):c.1444C>A (p.His482Asn)
|
rs780857373
|
0.00001
|
|
NM_000478.6(ALPL):c.152C>T (p.Ala51Val)
|
rs1470389268
|
0.00001
|
|
NM_000478.6(ALPL):c.203C>T (p.Thr68Met)
|
rs1644478533
|
0.00001
|
|
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr)
|
rs781264043
|
0.00001
|
|
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg)
|
rs1057521085
|
0.00001
|
|
NM_000478.6(ALPL):c.299C>T (p.Thr100Met)
|
rs1201942473
|
0.00001
|
|
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr)
|
rs773257111
|
0.00001
|
|
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys)
|
rs1374504617
|
0.00001
|
|
NM_000478.6(ALPL):c.352C>A (p.Leu118Met)
|
rs1284058976
|
0.00001
|
|
NM_000478.6(ALPL):c.459G>A (p.Trp153Ter)
|
rs761836226
|
0.00001
|
|
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser)
|
rs760029254
|
0.00001
|
|
NM_000478.6(ALPL):c.532T>C (p.Tyr178His)
|
rs1215600806
|
0.00001
|
|
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr)
|
rs121918000
|
0.00001
|
|
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)
|
rs199590449
|
0.00001
|
|
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
|
rs763159520
|
0.00001
|
|
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln)
|
rs199665722
|
0.00001
|
|
NM_000478.6(ALPL):c.677T>C (p.Met226Thr)
|
rs752641050
|
0.00001
|
|
NM_000478.6(ALPL):c.884T>C (p.Met295Thr)
|
rs1220125702
|
0.00001
|
|
NM_000478.6(ALPL):c.931G>A (p.Glu311Lys)
|
rs763457259
|
0.00001
|
|
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys)
|
rs779832611
|
0.00001
|
|
NM_000478.6(ALPL):c.98C>T (p.Ala33Val)
|
rs121918005
|
0.00001
|
|
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter)
|
rs768976020
|
0.00001
|
|
NM_000478.6(ALPL):c.997+1G>T
|
rs1292415045
|
0.00001
|
|
NM_000478.6(ALPL):c.997+2T>A
|
rs1057517391
|
0.00001
|
|
NM_000481.4(AMT):c.-58C>T
|
rs753743263
|
0.00001
|
|
NM_000481.4(AMT):c.14dup (p.Ser6fs)
|
rs773988915
|
0.00001
|
|
NM_000481.4(AMT):c.212A>C (p.His71Pro)
|
rs1053797603
|
0.00001
|
|
NM_000481.4(AMT):c.248A>G (p.His83Arg)
|
rs1467607949
|
0.00001
|
|
NM_000481.4(AMT):c.46C>T (p.Gln16Ter)
|
rs2049124862
|
0.00001
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
0.00001
|
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
|
NM_000481.4(AMT):c.665G>A (p.Arg222His)
|
rs562695274
|
0.00001
|
|
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)
|
rs779483959
|
0.00001
|
|
NM_000481.4(AMT):c.886C>T (p.Arg296Cys)
|
rs1056820947
|
0.00001
|
|
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)
|
rs766422988
|
0.00001
|
|
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
|
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg)
|
rs104894326
|
0.00001
|
|
NM_000486.6(AQP2):c.377C>T (p.Thr126Met)
|
rs104894330
|
0.00001
|
|
NM_000486.6(AQP2):c.502G>A (p.Val168Met)
|
rs755694590
|
0.00001
|
|
NM_000487.6(ARSA):c.109G>C (p.Asp37His)
|
rs2146728318
|
0.00001
|
|
NM_000487.6(ARSA):c.1108-3C>G
|
rs1001100248
|
0.00001
|
|
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)
|
rs74315477
|
0.00001
|
|
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)
|
rs74315479
|
0.00001
|
|
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)
|
rs74315480
|
0.00001
|
|
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)
|
rs74315481
|
0.00001
|
|
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)
|
rs199476388
|
0.00001
|
|
NM_000487.6(ARSA):c.178C>T (p.Arg60Trp)
|
rs867538940
|
0.00001
|
|
NM_000487.6(ARSA):c.244C>T (p.Arg82Trp)
|
rs1313802305
|
0.00001
|
|
NM_000487.6(ARSA):c.245G>A (p.Arg82Gln)
|
rs769892461
|
0.00001
|
|
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro)
|
rs777431148
|
0.00001
|
|
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)
|
rs74315461
|
0.00001
|
|
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)
|
rs199476373
|
0.00001
|
|
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)
|
rs199476375
|
0.00001
|
|
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)
|
rs768028181
|
0.00001
|
|
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys)
|
rs199476345
|
0.00001
|
|
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr)
|
rs199476341
|
0.00001
|
|
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)
|
rs527640350
|
0.00001
|
|
NM_000487.6(ARSA):c.737G>A (p.Arg246His)
|
rs199476366
|
0.00001
|
|
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)
|
rs199476384
|
0.00001
|
|
NM_000487.6(ARSA):c.769G>C (p.Asp257His)
|
rs80338819
|
0.00001
|
|
NM_000487.6(ARSA):c.771T>A (p.Asp257Glu)
|
rs563053401
|
0.00001
|
|
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)
|
rs74315472
|
0.00001
|
|
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro)
|
rs28940894
|
0.00001
|
|
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)
|
rs74315473
|
0.00001
|
|
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)
|
rs199476349
|
0.00001
|
|
NM_000487.6(ARSA):c.887G>A (p.Cys296Tyr)
|
rs199476347
|
0.00001
|
|
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser)
|
rs199476389
|
0.00001
|
|
NM_000487.6(ARSA):c.901C>T (p.Arg301Trp)
|
rs794727704
|
0.00001
|
|
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)
|
rs74315459
|
0.00001
|
|
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp)
|
rs768704768
|
0.00001
|
|
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)
|
rs121909567
|
0.00001
|
|
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp)
|
rs121909571
|
0.00001
|
|
NM_000488.4(SERPINC1):c.685C>T (p.Arg229Ter)
|
rs1657743081
|
0.00001
|
|
NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)
|
rs1057523785
|
0.00001
|
|
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met)
|
rs122445106
|
0.00001
|
|
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg)
|
rs397508154
|
0.00001
|
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
|
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)
|
rs758900656
|
0.00001
|
|
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)
|
rs79282516
|
0.00001
|
|
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)
|
rs121908754
|
0.00001
|
|
NM_000492.4(CFTR):c.1585-9412A>G
|
rs397508229
|
0.00001
|
|
NM_000492.4(CFTR):c.164+2T>C
|
rs121908800
|
0.00001
|
|
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
|
rs397508256
|
0.00001
|
|
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)
|
rs397508276
|
0.00001
|
|
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)
|
rs121908758
|
0.00001
|
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
|
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)
|
rs397508310
|
0.00001
|
|
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr)
|
rs201978662
|
0.00001
|
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00001
|
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
|
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)
|
rs121908749
|
0.00001
|
|
NM_000492.4(CFTR):c.234dup (p.Trp79fs)
|
rs1189377616
|
0.00001
|
|
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)
|
rs374946172
|
0.00001
|
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
|
NM_000492.4(CFTR):c.2679G>T (p.Gly893=)
|
rs397508419
|
0.00001
|
|
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)
|
rs369521395
|
0.00001
|
|
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys)
|
rs121909008
|
0.00001
|
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
|
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp)
|
rs386134230
|
0.00001
|
|
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)
|
rs397508461
|
0.00001
|
|
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)
|
rs141033578
|
0.00001
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
0.00001
|
|
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)
|
rs397508464
|
0.00001
|
|
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu)
|
rs397508467
|
0.00001
|
|
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)
|
rs397508476
|
0.00001
|
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
|
NM_000492.4(CFTR):c.3139_3139+1del
|
rs397508505
|
0.00001
|
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
|
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
0.00001
|
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
|
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)
|
rs121909040
|
0.00001
|
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
|
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)
|
rs121909015
|
0.00001
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
0.00001
|
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
|
NM_000492.4(CFTR):c.4242+1G>T
|
rs372227120
|
0.00001
|
|
NM_000492.4(CFTR):c.4252del (p.Glu1418fs)
|
rs1554397750
|
0.00001
|
|
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)
|
rs121909043
|
0.00001
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
0.00001
|
|
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)
|
rs397508759
|
0.00001
|
|
NM_000492.4(CFTR):c.579+5G>A
|
rs78440224
|
0.00001
|
|
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)
|
rs397508763
|
0.00001
|
|
NM_000492.4(CFTR):c.595C>T (p.His199Tyr)
|
rs121908802
|
0.00001
|
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
|
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)
|
rs193922532
|
0.00001
|
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
|
NM_000492.4(CFTR):c.870-2A>G
|
rs1290078234
|
0.00001
|
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
|
NM_000492.4(CFTR):c.94C>A (p.Leu32Met)
|
rs776797377
|
0.00001
|
|
NM_000494.4(COL17A1):c.332-1G>A
|
rs754289857
|
0.00001
|
|
NM_000494.4(COL17A1):c.340del (p.Ser114fs)
|
rs766864711
|
0.00001
|
|
NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter)
|
rs74315489
|
0.00001
|
|
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter)
|
rs760880418
|
0.00001
|
|
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)
|
rs104894069
|
0.00001
|
|
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)
|
rs267606755
|
0.00001
|
|
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)
|
rs779103938
|
0.00001
|
|
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
|
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)
|
rs140336749
|
0.00001
|
|
NM_000497.4(CYP11B1):c.595+1G>A
|
rs1264073726
|
0.00001
|
|
NM_000497.4(CYP11B1):c.596-2A>T
|
rs775946442
|
0.00001
|
|
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro)
|
rs387907573
|
0.00001
|
|
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val)
|
rs387907572
|
0.00001
|
|
NM_000498.3(CYP11B2):c.304C>T (p.Gln102Ter)
|
rs762727830
|
0.00001
|
|
NM_000498.3(CYP11B2):c.421C>T (p.Arg141Ter)
|
rs765802331
|
0.00001
|
|
NM_000498.3(CYP11B2):c.532C>T (p.Gln178Ter)
|
rs1205192306
|
0.00001
|
|
NM_000498.3(CYP11B2):c.760A>T (p.Lys254Ter)
|
rs759666789
|
0.00001
|
|
NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro)
|
rs1351295710
|
0.00001
|
|
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)
|
rs1554299737
|
0.00001
|
|
NM_000504.4(F10):c.1073C>T (p.Thr358Met)
|
rs768222784
|
0.00001
|
|
NM_000504.4(F10):c.161A>G (p.Glu54Gly)
|
rs121964944
|
0.00001
|
|
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)
|
rs121918188
|
0.00001
|
|
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)
|
rs780803192
|
0.00001
|
|
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro)
|
rs1248299502
|
0.00001
|
|
NM_000508.3(FGA):c.103C>T (p.Arg35Cys)
|
rs121909606
|
0.00001
|
|
NM_000508.3(FGA):c.112A>G (p.Arg38Gly)
|
rs121909608
|
0.00001
|
|
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)
|
rs755832705
|
0.00001
|
|
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn)
|
rs373739301
|
0.00001
|
|
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)
|
rs749578474
|
0.00001
|
|
NM_000512.5(GALNS):c.121A>T (p.Met41Leu)
|
rs1283377907
|
0.00001
|
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
|
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)
|
rs1401175486
|
0.00001
|
|
NM_000512.5(GALNS):c.1483-15A>G
|
rs1461992033
|
0.00001
|
|
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)
|
rs1478665723
|
0.00001
|
|
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)
|
rs118204441
|
0.00001
|
|
NM_000512.5(GALNS):c.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
|
NM_000512.5(GALNS):c.433C>T (p.His145Tyr)
|
rs577334837
|
0.00001
|
|
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr)
|
rs781439830
|
0.00001
|
|
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)
|
rs398123438
|
0.00001
|
|
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)
|
rs1308500116
|
0.00001
|
|
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)
|
rs775732598
|
0.00001
|
|
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)
|
rs772413313
|
0.00001
|
|
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)
|
rs118204435
|
0.00001
|
|
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)
|
rs753051547
|
0.00001
|
|
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys)
|
rs752039956
|
0.00001
|
|
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
|
rs1275386976
|
0.00001
|
|
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln)
|
rs1199639828
|
0.00001
|
|
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)
|
rs975409254
|
0.00001
|
|
NM_000512.5(GALNS):c.898+1G>C
|
rs761850746
|
0.00001
|
|
NM_000512.5(GALNS):c.911G>T (p.Gly304Val)
|
rs758439379
|
0.00001
|
|
NM_000515.5(GH1):c.626G>A (p.Arg209His)
|
rs137853223
|
0.00001
|
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
|
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter)
|
rs33987053
|
0.00001
|
|
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)
|
rs41529844
|
0.00001
|
|
NM_000518.5(HBB):c.*111A>G
|
rs63751128
|
0.00001
|
|
NM_000518.5(HBB):c.-122T>A
|
rs1272414751
|
0.00001
|
|
NM_000518.5(HBB):c.-78A>G
|
rs33931746
|
0.00001
|
|
NM_000518.5(HBB):c.114G>A (p.Trp38Ter)
|
rs33974936
|
0.00001
|
|
NM_000518.5(HBB):c.341T>A (p.Val114Glu)
|
rs34484056
|
0.00001
|
|
NM_000518.5(HBB):c.61G>A (p.Val21Met)
|
rs35890959
|
0.00001
|
|
NM_000520.6(HEXA):c.1088dup (p.Ser364fs)
|
rs1734738637
|
0.00001
|
|
NM_000520.6(HEXA):c.1168del (p.Gln390fs)
|
rs772879726
|
0.00001
|
|
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)
|
rs121907963
|
0.00001
|
|
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter)
|
rs745996955
|
0.00001
|
|
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)
|
rs121907981
|
0.00001
|
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
|
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)
|
rs759092928
|
0.00001
|
|
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)
|
rs769035623
|
0.00001
|
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
|
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro)
|
rs141120074
|
0.00001
|
|
NM_000520.6(HEXA):c.346+1G>C
|
rs797044432
|
0.00001
|
|
NM_000520.6(HEXA):c.460-2A>G
|
rs547177633
|
0.00001
|
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
|
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)
|
rs121907957
|
0.00001
|
|
NM_000520.6(HEXA):c.535C>T (p.His179Tyr)
|
rs781493030
|
0.00001
|
|
NM_000520.6(HEXA):c.536A>G (p.His179Arg)
|
rs747372270
|
0.00001
|
|
NM_000520.6(HEXA):c.570G>T (p.Leu190=)
|
rs1188885214
|
0.00001
|
|
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly)
|
rs1002712424
|
0.00001
|
|
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter)
|
rs1555475519
|
0.00001
|
|
NM_000520.6(HEXA):c.755G>A (p.Arg252His)
|
rs762255098
|
0.00001
|
|
NM_000520.6(HEXA):c.772G>C (p.Asp258His)
|
rs121907971
|
0.00001
|
|
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter)
|
rs751393950
|
0.00001
|
|
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)
|
rs121907977
|
0.00001
|
|
NM_000520.6(HEXA):c.972T>A (p.Val324=)
|
rs28942072
|
0.00001
|
|
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)
|
rs1309123671
|
0.00001
|
|
NM_000521.4(HEXB):c.1243-2A>G
|
rs398123446
|
0.00001
|
|
NM_000521.4(HEXB):c.1408_1409insCA (p.Asp470fs)
|
rs1208761835
|
0.00001
|
|
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
|
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)
|
rs1554034452
|
0.00001
|
|
NM_000521.4(HEXB):c.1509-26G>A
|
rs201580118
|
0.00001
|
|
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
|
rs121907983
|
0.00001
|
|
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro)
|
rs778501777
|
0.00001
|
|
NM_000521.4(HEXB):c.1598G>A (p.Arg533His)
|
rs1291555996
|
0.00001
|
|
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)
|
rs753823903
|
0.00001
|
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
|
NM_000521.4(HEXB):c.771+985G>A
|
rs1210377071
|
0.00001
|
|
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)
|
rs373979283
|
0.00001
|
|
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter)
|
rs138914144
|
0.00001
|
|
NM_000521.4(HEXB):c.965del (p.Ile322fs)
|
rs768438206
|
0.00001
|
|
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)
|
rs200750564
|
0.00001
|
|
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp)
|
rs28933082
|
0.00001
|
|
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)
|
rs954727530
|
0.00001
|
|
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys)
|
rs775204908
|
0.00001
|
|
NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu)
|
rs104894237
|
0.00001
|
|
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)
|
rs104894248
|
0.00001
|
|
NM_000527.4(LDLR):c.313+1G>A
|
rs112029328
|
0.00001
|
|
NM_000527.5(LDLR):c.-120C>T
|
rs875989886
|
0.00001
|
|
NM_000527.5(LDLR):c.-152C>T
|
rs879254367
|
0.00001
|
|
NM_000527.5(LDLR):c.1019G>T (p.Cys340Phe)
|
rs755757866
|
0.00001
|
|
NM_000527.5(LDLR):c.1020C>G (p.Cys340Trp)
|
rs777524402
|
0.00001
|
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
|
NM_000527.5(LDLR):c.1060+2T>G
|
rs774069731
|
0.00001
|
|
NM_000527.5(LDLR):c.1061-1G>C
|
rs879254774
|
0.00001
|
|
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg)
|
rs879254791
|
0.00001
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
rs768430352
|
0.00001
|
|
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
|
rs879254797
|
0.00001
|
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
rs879254803
|
0.00001
|
|
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr)
|
rs1402951356
|
0.00001
|
|
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)
|
rs730882099
|
0.00001
|
|
NM_000527.5(LDLR):c.1202T>A (p.Leu401His)
|
rs121908038
|
0.00001
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
rs121908043
|
0.00001
|
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
|
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)
|
rs748554592
|
0.00001
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
rs570942190
|
0.00001
|
|
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr)
|
rs879254849
|
0.00001
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
rs28942078
|
0.00001
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
rs28942079
|
0.00001
|
|
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met)
|
rs745343524
|
0.00001
|
|
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)
|
rs779732323
|
0.00001
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
0.00001
|
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
|
NM_000527.5(LDLR):c.1359-1G>A
|
rs139617694
|
0.00001
|
|
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly)
|
rs879254415
|
0.00001
|
|
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
|
rs778284147
|
0.00001
|
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
|
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn)
|
rs780316072
|
0.00001
|
|
NM_000527.5(LDLR):c.1435C>G (p.Leu479Val)
|
rs1254928151
|
0.00001
|
|
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro)
|
rs879254900
|
0.00001
|
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
rs879254913
|
0.00001
|
|
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)
|
rs755667663
|
0.00001
|
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
|
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys)
|
rs2077458389
|
0.00001
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
rs769370816
|
0.00001
|
|
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu)
|
rs759876319
|
0.00001
|
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
|
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)
|
rs138947766
|
0.00001
|
|
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp)
|
rs1410295777
|
0.00001
|
|
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser)
|
rs879255034
|
0.00001
|
|
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047
|
0.00001
|
|
NM_000527.5(LDLR):c.1846-1G>A
|
rs879255051
|
0.00001
|
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
|
NM_000527.5(LDLR):c.191-2A>G
|
rs544203837
|
0.00001
|
|
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
|
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)
|
rs762815611
|
0.00001
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
0.00001
|
|
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg)
|
rs775092314
|
0.00001
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
rs121908031
|
0.00001
|
|
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)
|
rs193922570
|
0.00001
|
|
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)
|
rs1057516127
|
0.00001
|
|
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)
|
rs879254439
|
0.00001
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
rs730882078
|
0.00001
|
|
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn)
|
rs1399689294
|
0.00001
|
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
|
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)
|
rs879254460
|
0.00001
|
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
|
NM_000527.5(LDLR):c.314-2A>C
|
rs879254470
|
0.00001
|
|
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)
|
rs140807148
|
0.00001
|
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
|
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)
|
rs730882080
|
0.00001
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
rs748944640
|
0.00001
|
|
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro)
|
rs763233960
|
0.00001
|
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
|
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu)
|
rs777321035
|
0.00001
|
|
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg)
|
rs879254558
|
0.00001
|
|
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)
|
rs879254600
|
0.00001
|
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
0.00001
|
|
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998
|
0.00001
|
|
NM_000527.5(LDLR):c.67+1G>A
|
rs762417023
|
0.00001
|
|
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly)
|
rs879254630
|
0.00001
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
0.00001
|
|
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
|
rs121908035
|
0.00001
|
|
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys)
|
rs879254657
|
0.00001
|
|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
0.00001
|
|
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)
|
rs121908040
|
0.00001
|
|
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly)
|
rs141681167
|
0.00001
|
|
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)
|
rs875989907
|
0.00001
|
|
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg)
|
rs879254682
|
0.00001
|
|
NM_000527.5(LDLR):c.820del (p.Thr274fs)
|
rs751122998
|
0.00001
|
|
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
|
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)
|
rs375495026
|
0.00001
|
|
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)
|
rs767618089
|
0.00001
|
|
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)
|
rs875989909
|
0.00001
|
|
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)
|
rs11547917
|
0.00001
|
|
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)
|
rs776421777
|
0.00001
|
|
NM_000527.5(LDLR):c.920A>G (p.Asp307Gly)
|
rs1555803908
|
0.00001
|
|
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr)
|
rs875989911
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1026+2T>G
|
rs369099686
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)
|
rs121434333
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)
|
rs778554304
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1309+1G>T
|
rs1057516745
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)
|
rs368899357
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)
|
rs748872992
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1645-1G>A
|
rs938576591
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)
|
rs1057516927
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2436+2T>C
|
rs398123457
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)
|
rs774791244
|
0.00001
|
|
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)
|
rs778399351
|
0.00001
|
|
NM_000528.4(MAN2B1):c.437-1G>A
|
rs200048536
|
0.00001
|
|
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)
|
rs772108001
|
0.00001
|
|
NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter)
|
rs2512512433
|
0.00001
|
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
|
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)
|
rs121913605
|
0.00001
|
|
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)
|
rs572010627
|
0.00001
|
|
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)
|
rs281865128
|
0.00001
|
|
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)
|
rs72558495
|
0.00001
|
|
NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys)
|
rs200306164
|
0.00001
|
|
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)
|
rs751538672
|
0.00001
|
|
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
|
rs1349202366
|
0.00001
|
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
|
NM_000532.5(PCCB):c.1399-2_1399-1del
|
rs1317123493
|
0.00001
|
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
|
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)
|
rs753981900
|
0.00001
|
|
NM_000532.5(PCCB):c.371del (p.Gln124fs)
|
rs1481849460
|
0.00001
|
|
NM_000532.5(PCCB):c.3G>A (p.Met1Ile)
|
rs398123464
|
0.00001
|
|
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)
|
rs754752068
|
0.00001
|
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
|
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)
|
rs1064794577
|
0.00001
|
|
NM_000535.7(PMS2):c.164-1G>A
|
rs763308607
|
0.00001
|
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
|
NM_000535.7(PMS2):c.23+1G>T
|
rs587782074
|
0.00001
|
|
NM_000535.7(PMS2):c.2382dup (p.Gly795fs)
|
rs1231406078
|
0.00001
|
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
0.00001
|
|
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
|
rs1064794083
|
0.00001
|
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
|
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)
|
rs587780059
|
0.00001
|
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
|
NM_000535.7(PMS2):c.538-1G>C
|
rs988423880
|
0.00001
|
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
|
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
|
rs1458321358
|
0.00001
|
|
NM_000535.7(PMS2):c.803+5G>A
|
rs939641251
|
0.00001
|
|
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
|
rs876659736
|
0.00001
|
|
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr)
|
rs121918573
|
0.00001
|
|
NM_000537.4(REN):c.145C>T (p.Arg49Ter)
|
rs121917741
|
0.00001
|
|
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)
|
rs29001566
|
0.00001
|
|
NM_000539.3(RHO):c.936+1G>T
|
rs776014770
|
0.00001
|
|
NM_000540.3(RYR1):c.10749_10753del (p.Glu3584fs)
|
rs1412691915
|
0.00001
|
|
NM_000540.3(RYR1):c.10937+1G>C
|
rs775682151
|
0.00001
|
|
NM_000540.3(RYR1):c.11193+2T>C
|
rs1971785665
|
0.00001
|
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
|
NM_000540.3(RYR1):c.11590+1G>T
|
rs113928116
|
0.00001
|
|
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)
|
rs148399313
|
0.00001
|
|
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser)
|
rs766407858
|
0.00001
|
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
|
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)
|
rs928989953
|
0.00001
|
|
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp)
|
rs771741606
|
0.00001
|
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
|
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)
|
rs193922868
|
0.00001
|
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
0.00001
|
|
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)
|
rs193922884
|
0.00001
|
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
|
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)
|
rs1432807966
|
0.00001
|
|
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)
|
rs398123471
|
0.00001
|
|
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)
|
rs193922768
|
0.00001
|
|
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn)
|
rs118192160
|
0.00001
|
|
NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter)
|
rs754522209
|
0.00001
|
|
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)
|
rs1305971341
|
0.00001
|
|
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)
|
rs565825739
|
0.00001
|
|
NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)
|
rs150633775
|
0.00001
|
|
NM_000540.3(RYR1):c.2577+1G>A
|
rs1416605332
|
0.00001
|
|
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln)
|
rs749040743
|
0.00001
|
|
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)
|
rs756138074
|
0.00001
|
|
NM_000540.3(RYR1):c.3686_3699del (p.Met1229fs)
|
rs774319202
|
0.00001
|
|
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)
|
rs193922781
|
0.00001
|
|
NM_000540.3(RYR1):c.6797-1G>A
|
rs1221087983
|
0.00001
|
|
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)
|
rs112563513
|
0.00001
|
|
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser)
|
rs536596969
|
0.00001
|
|
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)
|
rs193922803
|
0.00001
|
|
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
|
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln)
|
rs193922815
|
0.00001
|
|
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)
|
rs193922816
|
0.00001
|
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
|
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)
|
rs121918594
|
0.00001
|
|
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)
|
rs1365856881
|
0.00001
|
|
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)
|
rs193922826
|
0.00001
|
|
NM_000540.3(RYR1):c.8310+1G>T
|
rs1970380121
|
0.00001
|
|
NM_000540.3(RYR1):c.848A>G (p.His283Arg)
|
rs1966899604
|
0.00001
|
|
NM_000540.3(RYR1):c.9001-2A>G
|
rs774119942
|
0.00001
|
|
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter)
|
rs1374378105
|
0.00001
|
|
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu)
|
rs762652935
|
0.00001
|
|
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu)
|
rs754002399
|
0.00001
|
|
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu)
|
rs758210285
|
0.00001
|
|
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00001
|
|
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)
|
rs776442314
|
0.00001
|
|
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)
|
rs767492080
|
0.00001
|
|
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)
|
rs794727629
|
0.00001
|
|
NM_000543.5(SMPD1):c.1341-1G>A
|
rs1057516854
|
0.00001
|
|
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys)
|
rs747143343
|
0.00001
|
|
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs)
|
rs759389193
|
0.00001
|
|
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)
|
rs1554935669
|
0.00001
|
|
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)
|
rs370129081
|
0.00001
|
|
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)
|
rs868423827
|
0.00001
|
|
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)
|
rs1847910654
|
0.00001
|
|
NM_000543.5(SMPD1):c.56del (p.Gln19fs)
|
rs1554933746
|
0.00001
|
|
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)
|
rs764317969
|
0.00001
|
|
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)
|
rs989639224
|
0.00001
|
|
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)
|
rs200763423
|
0.00001
|
|
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)
|
rs750779804
|
0.00001
|
|
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)
|
rs398123479
|
0.00001
|
|
NM_000545.8(HNF1A):c.1136C>G (p.Pro379Arg)
|
rs371717826
|
0.00001
|
|
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)
|
rs749673816
|
0.00001
|
|
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln)
|
rs893256143
|
0.00001
|
|
NM_000545.8(HNF1A):c.608G>A (p.Arg203His)
|
rs587780357
|
0.00001
|
|
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)
|
rs1286294151
|
0.00001
|
|
NM_000545.8(HNF1A):c.751G>A (p.Ala251Thr)
|
rs1876968297
|
0.00001
|
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
|
NM_000546.6(TP53):c.376-1G>A
|
rs868137297
|
0.00001
|
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
|
NM_000546.6(TP53):c.536A>G (p.His179Arg)
|
rs1057519991
|
0.00001
|
|
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)
|
rs587782596
|
0.00001
|
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
|
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)
|
rs1057520008
|
0.00001
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
0.00001
|
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
|
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
|
rs121912655
|
0.00001
|
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
|
NM_000546.6(TP53):c.736A>G (p.Met246Val)
|
rs483352695
|
0.00001
|
|
NM_000546.6(TP53):c.783-1G>A
|
rs1555525367
|
0.00001
|
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
|
NM_000546.6(TP53):c.840A>T (p.Arg280Ser)
|
rs1567547687
|
0.00001
|
|
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)
|
rs764146326
|
0.00001
|
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
|
NM_000546.6(TP53):c.853G>A (p.Glu285Lys)
|
rs112431538
|
0.00001
|
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
|
NM_000549.5(TSHB):c.145G>A (p.Gly49Arg)
|
rs121918668
|
0.00001
|
|
NM_000550.3(TYRP1):c.1314C>A (p.Tyr438Ter)
|
rs753192557
|
0.00001
|
|
NM_000550.3(TYRP1):c.721G>T (p.Glu241Ter)
|
rs1176553821
|
0.00001
|
|
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)
|
rs193922608
|
0.00001
|
|
NM_000551.4(VHL):c.340+770T>C
|
rs1346312258
|
0.00001
|
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
|
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)
|
rs193922613
|
0.00001
|
|
NM_000552.5(VWF):c.1657dup (p.Trp553fs)
|
rs267607307
|
0.00001
|
|
NM_000552.5(VWF):c.2269_2270del (p.Leu757fs)
|
rs61748465
|
0.00001
|
|
NM_000552.5(VWF):c.2372C>T (p.Thr791Met)
|
rs61748477
|
0.00001
|
|
NM_000552.5(VWF):c.3108+5G>A
|
rs61748495
|
0.00001
|
|
NM_000552.5(VWF):c.3390C>T (p.Cys1130=)
|
rs1591865617
|
0.00001
|
|
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser)
|
rs61749398
|
0.00001
|
|
NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys)
|
rs61749407
|
0.00001
|
|
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)
|
rs61750069
|
0.00001
|
|
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys)
|
rs61750074
|
0.00001
|
|
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr)
|
rs61750084
|
0.00001
|
|
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter)
|
rs61751288
|
0.00001
|
|
NM_000552.5(VWF):c.7730-2del
|
rs1055962685
|
0.00001
|
|
NM_000553.6(WRN):c.2119A>G (p.Ser707Gly)
|
rs761240520
|
0.00001
|
|
NM_000553.6(WRN):c.3042G>A (p.Trp1014Ter)
|
rs371720457
|
0.00001
|
|
NM_000553.6(WRN):c.3175C>T (p.Gln1059Ter)
|
rs1319491415
|
0.00001
|
|
NM_000553.6(WRN):c.3384-1G>A
|
rs776963381
|
0.00001
|
|
NM_000553.6(WRN):c.3460-1G>A
|
rs1802899166
|
0.00001
|
|
NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)
|
rs762379051
|
0.00001
|
|
NM_000553.6(WRN):c.673C>T (p.Arg225Ter)
|
rs370324188
|
0.00001
|
|
NM_000553.6(WRN):c.725-1G>A
|
rs377215256
|
0.00001
|
|
NM_000553.6(WRN):c.88G>T (p.Glu30Ter)
|
rs1198210848
|
0.00001
|
|
NM_000554.6(CRX):c.118C>T (p.Arg40Trp)
|
rs749738655
|
0.00001
|
|
NM_000554.6(CRX):c.121C>T (p.Arg41Trp)
|
rs104894672
|
0.00001
|
|
NM_000554.6(CRX):c.122G>A (p.Arg41Gln)
|
rs61748436
|
0.00001
|
|
NM_000554.6(CRX):c.127C>T (p.Arg43Cys)
|
rs1437021651
|
0.00001
|
|
NM_000554.6(CRX):c.205C>T (p.Arg69Cys)
|
rs771551785
|
0.00001
|
|
NM_000557.5(GDF5):c.158del (p.Leu53fs)
|
rs886042462
|
0.00001
|
|
NM_000557.5(GDF5):c.628C>T (p.Gln210Ter)
|
rs146968459
|
0.00001
|
|
NM_000557.5(GDF5):c.891G>A (p.Trp297Ter)
|
rs1464028021
|
0.00001
|
|
NM_000562.3(C8A):c.630C>A (p.Tyr210Ter)
|
rs748306602
|
0.00001
|
|
NM_000574.5(CD55):c.148G>T (p.Glu50Ter)
|
rs773074921
|
0.00001
|
|
NM_000587.4(C7):c.1204C>T (p.Arg402Ter)
|
rs200365542
|
0.00001
|
|
NM_000587.4(C7):c.253del (p.Cys85fs)
|
rs769923441
|
0.00001
|
|
NM_000587.4(C7):c.281-1G>T
|
rs531103546
|
0.00001
|
|
NM_000628.5(IL10RB):c.611G>A (p.Trp204Ter)
|
rs1329427406
|
0.00001
|
|
NM_000642.3(AGL):c.1002_1005dup (p.Ile336fs)
|
rs1487094304
|
0.00001
|
|
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)
|
rs781580050
|
0.00001
|
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
|
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)
|
rs1057516870
|
0.00001
|
|
NM_000642.3(AGL):c.22del (p.Arg8fs)
|
rs1215043175
|
0.00001
|
|
NM_000642.3(AGL):c.2309-1G>A
|
rs786204481
|
0.00001
|
|
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)
|
rs1553183220
|
0.00001
|
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
|
NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)
|
rs1185515418
|
0.00001
|
|
NM_000642.3(AGL):c.3014del (p.Cys1005fs)
|
rs754653701
|
0.00001
|
|
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
|
rs539108137
|
0.00001
|
|
NM_000642.3(AGL):c.3259+1G>A
|
rs1394576194
|
0.00001
|
|
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)
|
rs1432024176
|
0.00001
|
|
NM_000642.3(AGL):c.3554del (p.Thr1185fs)
|
rs764318570
|
0.00001
|
|
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)
|
rs113994131
|
0.00001
|
|
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)
|
rs775685508
|
0.00001
|
|
NM_000642.3(AGL):c.471del (p.Met157fs)
|
rs1650328268
|
0.00001
|
|
NM_000642.3(AGL):c.664+3A>G
|
rs370792293
|
0.00001
|
|
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)
|
rs971749992
|
0.00001
|
|
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)
|
rs145362161
|
0.00001
|
|
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)
|
rs786204489
|
0.00001
|
|
NM_000685.5(AGTR1):c.110dup (p.Ile38fs)
|
rs387906577
|
0.00001
|
|
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys)
|
rs369428934
|
0.00001
|
|
NM_000702.4(ATP1A2):c.1234C>T (p.Arg412Ter)
|
rs760155608
|
0.00001
|
|
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn)
|
rs121918614
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)
|
rs182923857
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)
|
rs398123486
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)
|
rs1214763792
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)
|
rs765543886
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
|
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)
|
rs374625613
|
0.00001
|
|
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)
|
rs398123494
|
0.00001
|
|
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)
|
rs769688327
|
0.00001
|
|
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)
|
rs398123503
|
0.00001
|
|
NM_000709.4(BCKDHA):c.647-1G>C
|
rs753216964
|
0.00001
|
|
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)
|
rs369448982
|
0.00001
|
|
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)
|
rs137852874
|
0.00001
|
|
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)
|
rs199599175
|
0.00001
|
|
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)
|
rs373713279
|
0.00001
|
|
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)
|
rs137852873
|
0.00001
|
|
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)
|
rs755451300
|
0.00001
|
|
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)
|
rs137852871
|
0.00001
|
|
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)
|
rs137852875
|
0.00001
|
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
|
NM_000733.4(CD3E):c.520+2T>C
|
rs483352928
|
0.00001
|
|
NM_000751.3(CHRND):c.1006C>T (p.Arg336Ter)
|
rs754087173
|
0.00001
|
|
NM_000755.5(CRAT):c.962G>A (p.Arg321His)
|
rs138665095
|
0.00001
|
|
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp)
|
rs72547508
|
0.00001
|
|
NM_000781.3(CYP11A1):c.358del (p.Arg120fs)
|
rs1287871034
|
0.00001
|
|
NM_000782.5(CYP24A1):c.1147G>C (p.Glu383Gln)
|
rs777011420
|
0.00001
|
|
NM_000782.5(CYP24A1):c.400T>G (p.Trp134Gly)
|
rs1170841548
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
|
NM_000784.4(CYP27A1):c.256-1G>T
|
rs886556800
|
0.00001
|
|
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)
|
rs1398584213
|
0.00001
|
|
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter)
|
rs1319938730
|
0.00001
|
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
|
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
|
rs1339553782
|
0.00001
|
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
|
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)
|
rs72551316
|
0.00001
|
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
|
NM_000785.4(CYP27B1):c.1376G>A (p.Arg459His)
|
rs762550487
|
0.00001
|
|
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His)
|
rs28934604
|
0.00001
|
|
NM_000789.4(ACE):c.1186C>T (p.Gln396Ter)
|
rs769063911
|
0.00001
|
|
NM_000789.4(ACE):c.59_69del (p.Leu20fs)
|
rs752411292
|
0.00001
|
|
NM_000821.7(GGCX):c.1306C>T (p.Arg436Ter)
|
rs748892794
|
0.00001
|
|
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)
|
rs200848306
|
0.00001
|
|
NM_000823.4(GHRHR):c.481C>T (p.Arg161Trp)
|
rs758798716
|
0.00001
|
|
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter)
|
rs774592932
|
0.00001
|
|
NM_000843.4(GRM6):c.1478G>A (p.Trp493Ter)
|
rs752205220
|
0.00001
|
|
NM_000892.5(KLKB1):c.1259G>A (p.Gly420Glu)
|
rs186254196
|
0.00001
|
|
NM_001002294.3(FMO3):c.198G>T (p.Met66Ile)
|
rs72549323
|
0.00001
|
|
NM_001002294.3(FMO3):c.94G>A (p.Glu32Lys)
|
rs72549320
|
0.00001
|
|
NM_001003722.2(GLE1):c.1977dup (p.Thr660fs)
|
rs774933514
|
0.00001
|
|
NM_001003722.2(GLE1):c.397C>T (p.Arg133Ter)
|
rs374673335
|
0.00001
|
|
NM_001003722.2(GLE1):c.844C>T (p.Arg282Ter)
|
rs755775223
|
0.00001
|
|
NM_001003722.2(GLE1):c.937C>T (p.Arg313Ter)
|
rs1308076031
|
0.00001
|
|
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met)
|
rs371707778
|
0.00001
|
|
NM_001004334.4(GPR179):c.1429C>T (p.Arg477Ter)
|
rs764877172
|
0.00001
|
|
NM_001004334.4(GPR179):c.1573C>T (p.Arg525Ter)
|
rs773022324
|
0.00001
|
|
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter)
|
rs754912778
|
0.00001
|
|
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)
|
rs766209297
|
0.00001
|
|
NM_001005242.3(PKP2):c.1171-2A>G
|
rs794729133
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-1998C>T
|
rs151212477
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2A>T
|
rs1453983744
|
0.00001
|
|
NM_001005242.3(PKP2):c.533dup (p.His179fs)
|
rs769220833
|
0.00001
|
|
NM_001005242.3(PKP2):c.837_838del (p.Val280fs)
|
rs772220644
|
0.00001
|
|
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs)
|
rs967826828
|
0.00001
|
|
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter)
|
rs138226428
|
0.00001
|
|
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
|
rs1371904281
|
0.00001
|
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
|
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
|
rs765353795
|
0.00001
|
|
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)
|
rs137853860
|
0.00001
|
|
NM_001009944.3(PKD1):c.12013C>T (p.Gln4005Ter)
|
rs1567148587
|
0.00001
|
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
0.00001
|
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
|
NM_001009944.3(PKD1):c.8017-2_8017-1del
|
rs1567180636
|
0.00001
|
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
|
NM_001009944.3(PKD1):c.9202-16G>A
|
rs1389523126
|
0.00001
|
|
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)
|
rs1358566538
|
0.00001
|
|
NM_001011658.4(TRAPPC2):c.325-1G>C
|
rs1312555296
|
0.00001
|
|
NM_001013703.4(EIF2AK4):c.1754G>A (p.Arg585Gln)
|
rs587777106
|
0.00001
|
|
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His)
|
rs775061512
|
0.00001
|
|
NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter)
|
rs758210528
|
0.00001
|
|
NM_001013838.3(CARMIL2):c.882del (p.Leu295fs)
|
rs767941878
|
0.00001
|
|
NM_001014437.3(CARS1):c.1271G>A (p.Arg424His)
|
rs777861752
|
0.00001
|
|
NM_001015880.2(PAPSS2):c.712C>T (p.Arg238Ter)
|
rs541008862
|
0.00001
|
|
NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp)
|
rs267607046
|
0.00001
|
|
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn)
|
rs754664923
|
0.00001
|
|
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu)
|
rs199476316
|
0.00001
|
|
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)
|
rs199476321
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)
|
rs763733996
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)
|
rs1181436417
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1948-6C>A
|
rs779350241
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)
|
rs770686014
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)
|
rs369022159
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)
|
rs121917786
|
0.00001
|
|
NM_001018115.3(FANCD2):c.491+1G>A
|
rs943009372
|
0.00001
|
|
NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)
|
rs1449126896
|
0.00001
|
|
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
|
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)
|
rs779858591
|
0.00001
|
|
NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter)
|
rs748396645
|
0.00001
|
|
NM_001029896.2(WDR45):c.695G>A (p.Arg232His)
|
rs781978699
|
0.00001
|
|
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys)
|
rs780705654
|
0.00001
|
|
NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter)
|
rs77078070
|
0.00001
|
|
NM_001032386.2(SUOX):c.1097G>A (p.Arg366His)
|
rs776690106
|
0.00001
|
|
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln)
|
rs121908007
|
0.00001
|
|
NM_001032386.2(SUOX):c.842_843del (p.Leu281fs)
|
rs748900391
|
0.00001
|
|
NM_001033.5(RRM1):c.1142G>A (p.Arg381His)
|
rs2094584404
|
0.00001
|
|
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)
|
rs121908159
|
0.00001
|
|
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)
|
rs1317003987
|
0.00001
|
|
NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His)
|
rs113994040
|
0.00001
|
|
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn)
|
rs1695348814
|
0.00001
|
|
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)
|
rs764698152
|
0.00001
|
|
NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val)
|
rs1209752961
|
0.00001
|
|
NM_001037.5(SCN1B):c.448+88G>A
|
rs267607028
|
0.00001
|
|
NM_001038.6(SCNN1A):c.875+1G>A
|
rs142439390
|
0.00001
|
|
NM_001038603.3(MARVELD2):c.1183-1G>A
|
rs200781822
|
0.00001
|
|
NM_001038603.3(MARVELD2):c.1331+1G>A
|
rs762352115
|
0.00001
|
|
NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter)
|
rs375857763
|
0.00001
|
|
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter)
|
rs118204030
|
0.00001
|
|
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp)
|
rs121434491
|
0.00001
|
|
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter)
|
rs762813092
|
0.00001
|
|
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)
|
rs766242199
|
0.00001
|
|
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs)
|
rs113994148
|
0.00001
|
|
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)
|
rs1349343839
|
0.00001
|
|
NM_001042432.2(CLN3):c.1198-1G>T
|
rs386833702
|
0.00001
|
|
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)
|
rs386833703
|
0.00001
|
|
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)
|
rs386833709
|
0.00001
|
|
NM_001042432.2(CLN3):c.461-1G>T
|
rs386833722
|
0.00001
|
|
NM_001042432.2(CLN3):c.622dup (p.Ser208fs)
|
rs386833736
|
0.00001
|
|
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)
|
rs796052335
|
0.00001
|
|
NM_001042472.3(ABHD12):c.1075del (p.Val359fs)
|
rs757670984
|
0.00001
|
|
NM_001042492.3(NF1):c.204+1G>T
|
rs886039548
|
0.00001
|
|
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)
|
rs199474730
|
0.00001
|
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
|
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys)
|
rs367684252
|
0.00001
|
|
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)
|
rs199474732
|
0.00001
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
0.00001
|
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
|
NM_001042492.3(NF1):c.5812+332A>G
|
rs863224491
|
0.00001
|
|
NM_001042492.3(NF1):c.6006G>A (p.Gln2002=)
|
rs1555534432
|
0.00001
|
|
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)
|
rs1193716348
|
0.00001
|
|
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter)
|
rs768768823
|
0.00001
|
|
NM_001042702.5(PJVK):c.532C>T (p.Arg178Ter)
|
rs570669186
|
0.00001
|
|
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp)
|
rs111706634
|
0.00001
|
|
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp)
|
rs431905516
|
0.00001
|
|
NM_001044385.3(TMEM237):c.677+1G>A
|
rs793888505
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)
|
rs1060501335
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1102+1G>A
|
rs587781337
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter)
|
rs863224502
|
0.00001
|
|
NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)
|
rs370124822
|
0.00001
|
|
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)
|
rs558707786
|
0.00001
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
0.00001
|
|
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter)
|
rs888691362
|
0.00001
|
|
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter)
|
rs1553129892
|
0.00001
|
|
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg)
|
rs730881832
|
0.00001
|
|
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)
|
rs777184451
|
0.00001
|
|
NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter)
|
rs768386527
|
0.00001
|
|
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)
|
rs587781864
|
0.00001
|
|
NM_001048174.2(MUTYH):c.493-5A>G
|
rs758377868
|
0.00001
|
|
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter)
|
rs745921592
|
0.00001
|
|
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met)
|
rs776487884
|
0.00001
|
|
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu)
|
rs768553551
|
0.00001
|
|
NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter)
|
rs1064796630
|
0.00001
|
|
NM_001048174.2(MUTYH):c.606G>A (p.Gln202=)
|
rs199989617
|
0.00001
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
0.00001
|
|
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
|
rs34126013
|
0.00001
|
|
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)
|
rs769237459
|
0.00001
|
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1162-2A>G
|
rs756257487
|
0.00001
|
|
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)
|
rs886037961
|
0.00001
|
|
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter)
|
rs746975723
|
0.00001
|
|
NM_001077365.2(POMT1):c.1176-2A>G
|
rs746523421
|
0.00001
|
|
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)
|
rs119462987
|
0.00001
|
|
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)
|
rs119462982
|
0.00001
|
|
NM_001077365.2(POMT1):c.699+67G>A
|
rs776061161
|
0.00001
|
|
NM_001077418.3(TMEM231):c.582+1G>A
|
rs752141701
|
0.00001
|
|
NM_001077620.3(PRCD):c.74+1G>A
|
rs779066277
|
0.00001
|
|
NM_001079537.2(TRAPPC6B):c.91C>T (p.Arg31Ter)
|
rs1171802070
|
0.00001
|
|
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)
|
rs1554761402
|
0.00001
|
|
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)
|
rs1588222602
|
0.00001
|
|
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)
|
rs746763506
|
0.00001
|
|
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)
|
rs119463992
|
0.00001
|
|
NM_001079866.2(BCS1L):c.134G>A (p.Arg45His)
|
rs754414354
|
0.00001
|
|
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter)
|
rs777735526
|
0.00001
|
|
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter)
|
rs770749420
|
0.00001
|
|
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)
|
rs779331797
|
0.00001
|
|
NM_001079866.2(BCS1L):c.889+1G>T
|
rs1057516346
|
0.00001
|
|
NM_001079866.2(BCS1L):c.903C>A (p.Tyr301Ter)
|
rs1939635954
|
0.00001
|
|
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)
|
rs1280810181
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)
|
rs118203984
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1592G>A (p.Cys531Tyr)
|
rs953870735
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu)
|
rs906284769
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg)
|
rs1380589911
|
0.00001
|
|
NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp)
|
rs781036625
|
0.00001
|
|
NM_001080421.3(UNC13A):c.304C>T (p.Gln102Ter)
|
rs1057517677
|
0.00001
|
|
NM_001080449.3(DNA2):c.593G>A (p.Arg198His)
|
rs1272393477
|
0.00001
|
|
NM_001080467.3(MYO5B):c.244G>A (p.Glu82Lys)
|
rs2511265189
|
0.00001
|
|
NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg)
|
rs765281145
|
0.00001
|
|
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)
|
rs774844858
|
0.00001
|
|
NM_001080477.4(TENM3):c.7687C>T (p.Arg2563Trp)
|
rs755000701
|
0.00001
|
|
NM_001080508.3(TBX18):c.1570C>T (p.His524Tyr)
|
rs760905589
|
0.00001
|
|
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)
|
rs386833781
|
0.00001
|
|
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
|
rs1399856074
|
0.00001
|
|
NM_001082971.2(DDC):c.1073G>A (p.Arg358His)
|
rs771317809
|
0.00001
|
|
NM_001082971.2(DDC):c.1123C>T (p.Gln375Ter)
|
rs777681757
|
0.00001
|
|
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
|
rs775312348
|
0.00001
|
|
NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys)
|
rs142110773
|
0.00001
|
|
NM_001082971.2(DDC):c.710T>C (p.Phe237Ser)
|
rs755511614
|
0.00001
|
|
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp)
|
rs752858869
|
0.00001
|
|
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro)
|
rs751161742
|
0.00001
|
|
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)
|
rs189650890
|
0.00001
|
|
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp)
|
rs202217604
|
0.00001
|
|
NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)
|
rs550073023
|
0.00001
|
|
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys)
|
rs771076819
|
0.00001
|
|
NM_001083116.3(PRF1):c.921del (p.His308fs)
|
rs777345151
|
0.00001
|
|
NM_001083116.3(PRF1):c.949G>A (p.Gly317Arg)
|
rs766783280
|
0.00001
|
|
NM_001083614.2(EARS2):c.320G>A (p.Arg107His)
|
rs1021330566
|
0.00001
|
|
NM_001083614.2(EARS2):c.417_418del (p.Cys140fs)
|
rs767857970
|
0.00001
|
|
NM_001083614.2(EARS2):c.500G>A (p.Cys167Tyr)
|
rs397514594
|
0.00001
|
|
NM_001083961.2(WDR62):c.1313G>A (p.Arg438His)
|
rs387907082
|
0.00001
|
|
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn)
|
rs387907083
|
0.00001
|
|
NM_001085411.3(NADK2):c.1018C>T (p.Arg340Ter)
|
rs587777772
|
0.00001
|
|
NM_001089.3(ABCA3):c.4090G>A (p.Glu1364Lys)
|
rs1413175771
|
0.00001
|
|
NM_001089.3(ABCA3):c.622C>T (p.Arg208Trp)
|
rs768483175
|
0.00001
|
|
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)
|
rs121909542
|
0.00001
|
|
NM_001098.3(ACO2):c.1132C>T (p.Arg378Ter)
|
rs2066512609
|
0.00001
|
|
NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met)
|
rs371035540
|
0.00001
|
|
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter)
|
rs200320654
|
0.00001
|
|
NM_001101.5(ACTB):c.478A>G (p.Thr160Ala)
|
rs1784814961
|
0.00001
|
|
NM_001101421.4(MYO1H):c.2454+1G>A
|
rs773351711
|
0.00001
|
|
NM_001102401.4(TTI2):c.950A>T (p.Asp317Val)
|
rs200045967
|
0.00001
|
|
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)
|
rs137853312
|
0.00001
|
|
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)
|
rs797045044
|
0.00001
|
|
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)
|
rs779357448
|
0.00001
|
|
NM_001113378.2(FANCI):c.158-2A>G
|
rs762128147
|
0.00001
|
|
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter)
|
rs1347292940
|
0.00001
|
|
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)
|
rs375656231
|
0.00001
|
|
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)
|
rs748000458
|
0.00001
|
|
NM_001113378.2(FANCI):c.3006+3A>G
|
rs1294973649
|
0.00001
|
|
NM_001113378.2(FANCI):c.3058+1G>A
|
rs149464307
|
0.00001
|
|
NM_001113378.2(FANCI):c.3949C>T (p.Gln1317Ter)
|
rs758856471
|
0.00001
|
|
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)
|
rs1554809450
|
0.00001
|
|
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)
|
rs1434169817
|
0.00001
|
|
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter)
|
rs754313121
|
0.00001
|
|
NM_001122764.3(PPOX):c.503G>A (p.Arg168His)
|
rs41270025
|
0.00001
|
|
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)
|
rs748370008
|
0.00001
|
|
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter)
|
rs1182277140
|
0.00001
|
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp)
|
rs770702194
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln)
|
rs776296772
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu)
|
rs121909383
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile)
|
rs748575829
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr)
|
rs781342495
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1424C>G (p.Ser475Cys)
|
rs373017321
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn)
|
rs753523115
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr)
|
rs781137708
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1926-1G>T
|
rs755560627
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys)
|
rs747249619
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs)
|
rs771701344
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn)
|
rs1298687889
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His)
|
rs751929135
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)
|
rs369360334
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.2663T>C (p.Leu888Pro)
|
rs764833797
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.2851_2852insAGGGGTGCACCCTC (p.Val951fs)
|
rs754576009
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys)
|
rs749742102
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met)
|
rs267607050
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.505+5G>A
|
rs751112698
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg)
|
rs757792232
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu)
|
rs772589653
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp)
|
rs759426055
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.741+1G>A
|
rs1187506921
|
0.00001
|
|
NM_001127178.3(PIGG):c.2569C>T (p.Gln857Ter)
|
rs1294683568
|
0.00001
|
|
NM_001127178.3(PIGG):c.352C>T (p.Arg118Ter)
|
rs782124562
|
0.00001
|
|
NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter)
|
rs1418085145
|
0.00001
|
|
NM_001127208.3(TET2):c.3409+1G>A
|
rs772634266
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys)
|
rs1064794263
|
0.00001
|
|
NM_001127453.2(GSDME):c.1183+1G>A
|
rs1554322596
|
0.00001
|
|
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)
|
rs61752136
|
0.00001
|
|
NM_001127671.2(LIFR):c.1252C>T (p.Arg418Ter)
|
rs765622323
|
0.00001
|
|
NM_001127671.2(LIFR):c.2170C>G (p.Pro724Ala)
|
rs863225047
|
0.00001
|
|
NM_001128126.3(AP4S1):c.294+1G>T
|
rs886041127
|
0.00001
|
|
NM_001128159.3(VPS53):c.1556+5G>A
|
rs587777466
|
0.00001
|
|
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln)
|
rs387907348
|
0.00001
|
|
NM_001130144.3(LTBP3):c.3364C>T (p.Gln1122Ter)
|
rs878853036
|
0.00001
|
|
NM_001130682.3(GUCY1A1):c.1086+1G>T
|
rs587777320
|
0.00001
|
|
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)
|
rs768546511
|
0.00001
|
|
NM_001130987.2(DYSF):c.1149+5G>A
|
rs1023002894
|
0.00001
|
|
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)
|
rs758180890
|
0.00001
|
|
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)
|
rs778673716
|
0.00001
|
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
0.00001
|
|
NM_001130987.2(DYSF):c.1693-6T>A
|
rs886039573
|
0.00001
|
|
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)
|
rs377735262
|
0.00001
|
|
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)
|
rs200916654
|
0.00001
|
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
|
NM_001130987.2(DYSF):c.1985-2del
|
rs774047700
|
0.00001
|
|
NM_001130987.2(DYSF):c.2217-2A>G
|
rs747289205
|
0.00001
|
|
NM_001130987.2(DYSF):c.2409+1G>A
|
rs151317754
|
0.00001
|
|
NM_001130987.2(DYSF):c.2864+1G>A
|
rs199954546
|
0.00001
|
|
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)
|
rs750028300
|
0.00001
|
|
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)
|
rs28937581
|
0.00001
|
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
|
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)
|
rs1553556116
|
0.00001
|
|
NM_001130987.2(DYSF):c.3391G>T (p.Glu1131Ter)
|
rs1231906656
|
0.00001
|
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
|
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
|
rs758993965
|
0.00001
|
|
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)
|
rs769721856
|
0.00001
|
|
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
|
rs576130413
|
0.00001
|
|
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)
|
rs886044411
|
0.00001
|
|
NM_001130987.2(DYSF):c.460+1G>A
|
rs1278864604
|
0.00001
|
|
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs)
|
rs1156805286
|
0.00001
|
|
NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter)
|
rs1476505138
|
0.00001
|
|
NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys)
|
rs771402331
|
0.00001
|
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
|
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)
|
rs398123794
|
0.00001
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
0.00001
|
|
NM_001130987.2(DYSF):c.5885-1G>C
|
rs771257070
|
0.00001
|
|
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)
|
rs1057521141
|
0.00001
|
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
|
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)
|
rs121908963
|
0.00001
|
|
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)
|
rs267607001
|
0.00001
|
|
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
|
rs267607004
|
0.00001
|
|
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)
|
rs1393804220
|
0.00001
|
|
NM_001134382.3(IQSEC1):c.962G>A (p.Arg321Gln)
|
rs758170522
|
0.00001
|
|
NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter)
|
rs587777743
|
0.00001
|
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
|
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)
|
rs863225135
|
0.00001
|
|
NM_001136193.2(FASTKD2):c.1072C>T (p.Arg358Ter)
|
rs994917847
|
0.00001
|
|
NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter)
|
rs118203917
|
0.00001
|
|
NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter)
|
rs587777422
|
0.00001
|
|
NM_001139.3(ALOX12B):c.1148C>T (p.Thr383Met)
|
rs760428119
|
0.00001
|
|
NM_001139.3(ALOX12B):c.1157G>A (p.Arg386His)
|
rs759484732
|
0.00001
|
|
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter)
|
rs397514527
|
0.00001
|
|
NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln)
|
rs1028050037
|
0.00001
|
|
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)
|
rs397514526
|
0.00001
|
|
NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro)
|
rs201575829
|
0.00001
|
|
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter)
|
rs724159969
|
0.00001
|
|
NM_001142784.3(IL11RA):c.662C>G (p.Pro221Arg)
|
rs387906785
|
0.00001
|
|
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)
|
rs1471994744
|
0.00001
|
|
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)
|
rs1177052380
|
0.00001
|
|
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)
|
rs878853349
|
0.00001
|
|
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)
|
rs930421180
|
0.00001
|
|
NM_001142800.2(EYS):c.4103dup (p.Ser1369fs)
|
rs1205803331
|
0.00001
|
|
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)
|
rs1305702728
|
0.00001
|
|
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)
|
rs909730457
|
0.00001
|
|
NM_001142800.2(EYS):c.5644+5G>A
|
rs794727412
|
0.00001
|
|
NM_001142800.2(EYS):c.6079-3_6079-2del
|
rs1491200209
|
0.00001
|
|
NM_001142800.2(EYS):c.6191+1G>A
|
rs1048032321
|
0.00001
|
|
NM_001142800.2(EYS):c.6192-1G>T
|
rs570020451
|
0.00001
|
|
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)
|
rs797045089
|
0.00001
|
|
NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr)
|
rs1562190751
|
0.00001
|
|
NM_001142800.2(EYS):c.6571+1G>A
|
rs1193854376
|
0.00001
|
|
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)
|
rs1060499783
|
0.00001
|
|
NM_001142800.2(EYS):c.7578+1G>A
|
rs1228475082
|
0.00001
|
|
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter)
|
rs1197863938
|
0.00001
|
|
NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter)
|
rs1299355731
|
0.00001
|
|
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)
|
rs1250317776
|
0.00001
|
|
NM_001142800.2(EYS):c.8236G>T (p.Asp2746Tyr)
|
rs1349879153
|
0.00001
|
|
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)
|
rs373203896
|
0.00001
|
|
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn)
|
rs1211856182
|
0.00001
|
|
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)
|
rs948998853
|
0.00001
|
|
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro)
|
rs569561277
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.1536_1537del (p.Cys513fs)
|
rs914435870
|
0.00001
|
|
NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg)
|
rs281865550
|
0.00001
|
|
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg)
|
rs1190703859
|
0.00001
|
|
NM_001145308.5(LRTOMT):c.358+4A>C
|
rs545947177
|
0.00001
|
|
NM_001145809.2(MYH14):c.590+1G>A
|
rs371338704
|
0.00001
|
|
NM_001145860.2(POP1):c.2332C>T (p.Gln778Ter)
|
rs771454414
|
0.00001
|
|
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His)
|
rs368027306
|
0.00001
|
|
NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter)
|
rs768327292
|
0.00001
|
|
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)
|
rs121912683
|
0.00001
|
|
NM_001159773.2(CANT1):c.836-9G>A
|
rs538543007
|
0.00001
|
|
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu)
|
rs267606700
|
0.00001
|
|
NM_001159773.2(CANT1):c.899G>A (p.Arg300His)
|
rs267606699
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter)
|
rs766614772
|
0.00001
|
|
NM_001161.5(NUDT2):c.34C>T (p.Arg12Ter)
|
rs148119952
|
0.00001
|
|
NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys)
|
rs121434309
|
0.00001
|
|
NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu)
|
rs115596308
|
0.00001
|
|
NM_001163435.3(TBCK):c.1108C>T (p.Arg370Ter)
|
rs1452578209
|
0.00001
|
|
NM_001163435.3(TBCK):c.247C>T (p.Arg83Ter)
|
rs763057505
|
0.00001
|
|
NM_001163435.3(TBCK):c.381+1G>A
|
rs1762560983
|
0.00001
|
|
NM_001163435.3(TBCK):c.456-2A>G
|
rs780527809
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val)
|
rs786204740
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)
|
rs121908976
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.381+2T>G
|
rs782645078
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)
|
rs193302890
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)
|
rs193302888
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)
|
rs551439289
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)
|
rs193302889
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)
|
rs193302880
|
0.00001
|
|
NM_001164405.2(BHLHA9):c.218G>C (p.Arg73Pro)
|
rs672601338
|
0.00001
|
|
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)
|
rs928945364
|
0.00001
|
|
NM_001164508.2(NEB):c.1152+1G>A
|
rs398124167
|
0.00001
|
|
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)
|
rs1490309743
|
0.00001
|
|
NM_001164508.2(NEB):c.1470+1G>A
|
rs1220787593
|
0.00001
|
|
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)
|
rs1255744452
|
0.00001
|
|
NM_001164508.2(NEB):c.1674+1G>T
|
rs750585238
|
0.00001
|
|
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)
|
rs539819851
|
0.00001
|
|
NM_001164508.2(NEB):c.18891+1G>A
|
rs1443738549
|
0.00001
|
|
NM_001164508.2(NEB):c.19101+5G>A
|
rs374929094
|
0.00001
|
|
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)
|
rs1553740233
|
0.00001
|
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
|
NM_001164508.2(NEB):c.20503C>T (p.Arg6835Ter)
|
rs370098540
|
0.00001
|
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
|
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)
|
rs555582398
|
0.00001
|
|
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter)
|
rs537560378
|
0.00001
|
|
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs)
|
rs2061721973
|
0.00001
|
|
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs)
|
rs1553552413
|
0.00001
|
|
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)
|
rs756726488
|
0.00001
|
|
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)
|
rs1218073575
|
0.00001
|
|
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)
|
rs1257495033
|
0.00001
|
|
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs)
|
rs762133567
|
0.00001
|
|
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter)
|
rs758327681
|
0.00001
|
|
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs)
|
rs1472403020
|
0.00001
|
|
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter)
|
rs747179265
|
0.00001
|
|
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter)
|
rs778104284
|
0.00001
|
|
NM_001164508.2(NEB):c.2784del (p.Asp929fs)
|
rs786204430
|
0.00001
|
|
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)
|
rs1553548666
|
0.00001
|
|
NM_001164508.2(NEB):c.294+1G>A
|
rs759956258
|
0.00001
|
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
|
NM_001164508.2(NEB):c.2943+1G>A
|
rs113091511
|
0.00001
|
|
NM_001164508.2(NEB):c.37-1G>A
|
rs1428597732
|
0.00001
|
|
NM_001164508.2(NEB):c.3879+1G>A
|
rs746999970
|
0.00001
|
|
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360
|
0.00001
|
|
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter)
|
rs1032240985
|
0.00001
|
|
NM_001164508.2(NEB):c.6076-1G>T
|
rs1553469502
|
0.00001
|
|
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)
|
rs756363951
|
0.00001
|
|
NM_001164508.2(NEB):c.7228-1G>A
|
rs1057516996
|
0.00001
|
|
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172
|
0.00001
|
|
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)
|
rs750548574
|
0.00001
|
|
NM_001164508.2(NEB):c.928-1G>A
|
rs1162553327
|
0.00001
|
|
NM_001164508.2(NEB):c.9414+1G>T
|
rs1255445731
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)
|
rs575368466
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln)
|
rs1057517802
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.760G>A (p.Val254Ile)
|
rs587777184
|
0.00001
|
|
NM_001171.6(ABCC6):c.105del (p.Val37fs)
|
rs72664223
|
0.00001
|
|
NM_001171.6(ABCC6):c.1484T>A (p.Leu495His)
|
rs72653769
|
0.00001
|
|
NM_001171.6(ABCC6):c.1799G>A (p.Arg600His)
|
rs761433545
|
0.00001
|
|
NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro)
|
rs67470842
|
0.00001
|
|
NM_001171.6(ABCC6):c.3506+1G>A
|
rs1359856569
|
0.00001
|
|
NM_001171.6(ABCC6):c.3507-1G>A
|
rs72664210
|
0.00001
|
|
NM_001171.6(ABCC6):c.37-1G>A
|
rs72657702
|
0.00001
|
|
NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser)
|
rs63749823
|
0.00001
|
|
NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys)
|
rs63751241
|
0.00001
|
|
NM_001171.6(ABCC6):c.724G>T (p.Glu242Ter)
|
rs72650697
|
0.00001
|
|
NM_001171155.2(PET100):c.1A>G (p.Met1Val)
|
rs977392512
|
0.00001
|
|
NM_001171613.2(PREPL):c.-49+1734C>T
|
rs374594354
|
0.00001
|
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu)
|
rs121909388
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.2422G>A (p.Val808Met)
|
rs757244518
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.2518A>G (p.Met840Val)
|
rs121909396
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys)
|
rs121909391
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.590C>T (p.Ser197Leu)
|
rs759667344
|
0.00001
|
|
NM_001174147.2(LMX1B):c.667C>T (p.Arg223Trp)
|
rs2030200763
|
0.00001
|
|
NM_001177316.2(SLC34A3):c.1247del (p.Leu416fs)
|
rs781602446
|
0.00001
|
|
NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter)
|
rs762610288
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys)
|
rs1471249688
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1200+1G>T
|
rs1217642695
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu)
|
rs151107837
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1344T>A (p.Asn448Lys)
|
rs2480252837
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe)
|
rs186558364
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1489+5G>A
|
rs368820286
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys)
|
rs561343926
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1565+1G>T
|
rs1064793830
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.246+1G>A
|
rs764588746
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.312+1G>A
|
rs199497486
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu)
|
rs764417585
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met)
|
rs376917645
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.950C>T (p.Ser317Leu)
|
rs148052962
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp)
|
rs796052812
|
0.00001
|
|
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)
|
rs587784299
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter)
|
rs1554965669
|
0.00001
|
|
NM_001195129.2(PRSS56):c.958G>A (p.Gly320Arg)
|
rs730882158
|
0.00001
|
|
NM_001195248.2(APTX):c.46C>T (p.Arg16Ter)
|
rs1015321377
|
0.00001
|
|
NM_001195263.2(PDZD7):c.1113del (p.Thr372fs)
|
rs1280689930
|
0.00001
|
|
NM_001195263.2(PDZD7):c.1655dup (p.Ala553fs)
|
rs1378470761
|
0.00001
|
|
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp)
|
rs200664140
|
0.00001
|
|
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg)
|
rs753034799
|
0.00001
|
|
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter)
|
rs777327250
|
0.00001
|
|
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter)
|
rs769501930
|
0.00001
|
|
NM_001198800.3(ASCC1):c.626+1G>A
|
rs747595523
|
0.00001
|
|
NM_001198800.3(ASCC1):c.871+1G>A
|
rs763845791
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His)
|
rs765965968
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)
|
rs483352866
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)
|
rs748302886
|
0.00001
|
|
NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter)
|
rs758677637
|
0.00001
|
|
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg)
|
rs1301705612
|
0.00001
|
|
NM_001199397.3(NEK1):c.868+1G>C
|
rs897732893
|
0.00001
|
|
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter)
|
rs775062249
|
0.00001
|
|
NM_001201543.2(FAM161A):c.1060C>T (p.Arg354Ter)
|
rs769445913
|
0.00001
|
|
NM_001206744.2(TPO):c.1943G>A (p.Arg648Gln)
|
rs121908086
|
0.00001
|
|
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg)
|
rs556552435
|
0.00001
|
|
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His)
|
rs28989182
|
0.00001
|
|
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter)
|
rs28989186
|
0.00001
|
|
NM_001218.5(CA12):c.427G>A (p.Glu143Lys)
|
rs267606694
|
0.00001
|
|
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)
|
rs758748280
|
0.00001
|
|
NM_001232.4(CASQ2):c.939+1G>T
|
rs905985075
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter)
|
rs587777459
|
0.00001
|
|
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)
|
rs186643840
|
0.00001
|
|
NM_001242957.3(MAK):c.37G>A (p.Gly13Ser)
|
rs387906647
|
0.00001
|
|
NM_001242957.3(MAK):c.718_719del (p.Gln240fs)
|
rs1039053911
|
0.00001
|
|
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter)
|
rs753314164
|
0.00001
|
|
NM_001243133.2(NLRP3):c.55G>C (p.Asp19His)
|
rs200154873
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)
|
rs1131691498
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter)
|
rs766764090
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)
|
rs1243213118
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)
|
rs1909702747
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)
|
rs776995095
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)
|
rs748382994
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)
|
rs387907119
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
|
rs1025201214
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)
|
rs1457774840
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1613+1G>A
|
rs770400253
|
0.00001
|
|
NM_001243279.3(ACSF3):c.305del (p.Cys102fs)
|
rs760759040
|
0.00001
|
|
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)
|
rs757905943
|
0.00001
|
|
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter)
|
rs1313088429
|
0.00001
|
|
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)
|
rs752338222
|
0.00001
|
|
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)
|
rs1975291440
|
0.00001
|
|
NM_001243279.3(ACSF3):c.666+1G>A
|
rs1336382616
|
0.00001
|
|
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)
|
rs749538361
|
0.00001
|
|
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)
|
rs759338401
|
0.00001
|
|
NM_001243279.3(ACSF3):c.866del (p.Val289fs)
|
rs758740850
|
0.00001
|
|
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)
|
rs1446221617
|
0.00001
|
|
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs)
|
rs587778791
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3826C>T (p.Arg1276Ter)
|
rs368078424
|
0.00001
|
|
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His)
|
rs189717232
|
0.00001
|
|
NM_001252024.2(TRPM1):c.279+147T>G
|
rs150441866
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1115-2A>G
|
rs1210851910
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
|
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)
|
rs767220480
|
0.00001
|
|
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter)
|
rs777248758
|
0.00001
|
|
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn)
|
rs397514563
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.1201G>A (p.Gly401Arg)
|
rs1374533426
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr)
|
rs201018751
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys)
|
rs373058706
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter)
|
rs976363536
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg)
|
rs372526764
|
0.00001
|
|
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu)
|
rs763252801
|
0.00001
|
|
NM_001258392.3(CLPB):c.829C>T (p.Arg277Ter)
|
rs1466435969
|
0.00001
|
|
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter)
|
rs185461628
|
0.00001
|
|
NM_001261.4(CDK9):c.673C>T (p.Arg225Cys)
|
rs767418586
|
0.00001
|
|
NM_001267550.2(TTN):c.100342C>T (p.Arg33448Ter)
|
rs1168878579
|
0.00001
|
|
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)
|
rs1064793560
|
0.00001
|
|
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)
|
rs1260821931
|
0.00001
|
|
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)
|
rs794729305
|
0.00001
|
|
NM_001267550.2(TTN):c.10303+2T>C
|
rs371596417
|
0.00001
|
|
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)
|
rs747662439
|
0.00001
|
|
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter)
|
rs750519430
|
0.00001
|
|
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)
|
rs886043924
|
0.00001
|
|
NM_001267550.2(TTN):c.105805del (p.Thr35269fs)
|
rs752787097
|
0.00001
|
|
NM_001267550.2(TTN):c.106279C>T (p.Gln35427Ter)
|
rs1285334952
|
0.00001
|
|
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)
|
rs1009131948
|
0.00001
|
|
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
|
rs878854299
|
0.00001
|
|
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)
|
rs767120669
|
0.00001
|
|
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter)
|
rs727504499
|
0.00001
|
|
NM_001267550.2(TTN):c.44816-1G>A
|
rs749705939
|
0.00001
|
|
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)
|
rs397517580
|
0.00001
|
|
NM_001267550.2(TTN):c.48015_48016del (p.Asp16007fs)
|
rs794729319
|
0.00001
|
|
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)
|
rs374140736
|
0.00001
|
|
NM_001267550.2(TTN):c.51436+1G>A
|
rs761807131
|
0.00001
|
|
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter)
|
rs748956593
|
0.00001
|
|
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)
|
rs1343120755
|
0.00001
|
|
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter)
|
rs768431507
|
0.00001
|
|
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter)
|
rs747236787
|
0.00001
|
|
NM_001267550.2(TTN):c.56648-1G>A
|
rs769912484
|
0.00001
|
|
NM_001267550.2(TTN):c.56732dup (p.Asp18911fs)
|
rs397517626
|
0.00001
|
|
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter)
|
rs72646828
|
0.00001
|
|
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs)
|
rs752948913
|
0.00001
|
|
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter)
|
rs1250461669
|
0.00001
|
|
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)
|
rs797044692
|
0.00001
|
|
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter)
|
rs878854324
|
0.00001
|
|
NM_001267550.2(TTN):c.67349-2A>C
|
rs753948675
|
0.00001
|
|
NM_001267550.2(TTN):c.68484del (p.Lys22828fs)
|
rs1370805955
|
0.00001
|
|
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs)
|
rs757603460
|
0.00001
|
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
|
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)
|
rs727505284
|
0.00001
|
|
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter)
|
rs766840243
|
0.00001
|
|
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs)
|
rs794729351
|
0.00001
|
|
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter)
|
rs886055237
|
0.00001
|
|
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)
|
rs770038577
|
0.00001
|
|
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter)
|
rs1060500525
|
0.00001
|
|
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter)
|
rs794729300
|
0.00001
|
|
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs)
|
rs1064794472
|
0.00001
|
|
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)
|
rs1553539391
|
0.00001
|
|
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter)
|
rs794729301
|
0.00001
|
|
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter)
|
rs869312121
|
0.00001
|
|
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter)
|
rs1322596650
|
0.00001
|
|
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)
|
rs869320742
|
0.00001
|
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
|
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter)
|
rs869312085
|
0.00001
|
|
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter)
|
rs553821887
|
0.00001
|
|
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter)
|
rs1222471099
|
0.00001
|
|
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His)
|
rs397515427
|
0.00001
|
|
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)
|
rs121964855
|
0.00001
|
|
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys)
|
rs727504244
|
0.00001
|
|
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)
|
rs397516455
|
0.00001
|
|
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)
|
rs397516456
|
0.00001
|
|
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)
|
rs121964856
|
0.00001
|
|
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)
|
rs397516463
|
0.00001
|
|
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)
|
rs730881101
|
0.00001
|
|
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)
|
rs727504247
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1930C>T (p.Arg644Ter)
|
rs1228238442
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter)
|
rs377691013
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3426-1G>A
|
rs774855011
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter)
|
rs374107286
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6004C>T (p.Arg2002Ter)
|
rs373844629
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter)
|
rs778698443
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6983+1G>A
|
rs771953930
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8932C>T (p.Gln2978Ter)
|
rs772228900
|
0.00001
|
|
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)
|
rs367665974
|
0.00001
|
|
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)
|
rs137854907
|
0.00001
|
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
|
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs)
|
rs1347618037
|
0.00001
|
|
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro)
|
rs201989042
|
0.00001
|
|
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)
|
rs1554222130
|
0.00001
|
|
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala)
|
rs1057519447
|
0.00001
|
|
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter)
|
rs964532159
|
0.00001
|
|
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys)
|
rs2036159242
|
0.00001
|
|
NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu)
|
rs199567025
|
0.00001
|
|
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)
|
rs370343781
|
0.00001
|
|
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter)
|
rs961593162
|
0.00001
|
|
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs)
|
rs773025155
|
0.00001
|
|
NM_001287.6(CLCN7):c.1576C>T (p.Arg526Trp)
|
rs1233085260
|
0.00001
|
|
NM_001287.6(CLCN7):c.739-18G>A
|
rs371893553
|
0.00001
|
|
NM_001289808.2(CRYAB):c.343del (p.Ser115fs)
|
rs281865142
|
0.00001
|
|
NM_001292063.2(OTOG):c.4657G>T (p.Gly1553Ter)
|
rs897822685
|
0.00001
|
|
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
|
rs1000615556
|
0.00001
|
|
NM_001292063.2(OTOG):c.5747_5750del (p.Gln1916fs)
|
rs1253030003
|
0.00001
|
|
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter)
|
rs397514608
|
0.00001
|
|
NM_001292063.2(OTOG):c.755del (p.Asp252fs)
|
rs1270911408
|
0.00001
|
|
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys)
|
rs771833874
|
0.00001
|
|
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser)
|
rs1464167194
|
0.00001
|
|
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp)
|
rs749842881
|
0.00001
|
|
NM_001298.3(CNGA3):c.1717T>C (p.Tyr573His)
|
rs1330420689
|
0.00001
|
|
NM_001298.3(CNGA3):c.396-11C>G
|
rs545114991
|
0.00001
|
|
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg)
|
rs753625117
|
0.00001
|
|
NM_001308093.3(GATA4):c.851G>A (p.Arg284His)
|
rs180765750
|
0.00001
|
|
NM_001321967.2(ATAD1):c.1070_1071del (p.His357fs)
|
rs751499706
|
0.00001
|
|
NM_001330691.3(CEP78):c.1424del (p.Val475fs)
|
rs1196886096
|
0.00001
|
|
NM_001330691.3(CEP78):c.1447C>T (p.Arg483Ter)
|
rs1210581905
|
0.00001
|
|
NM_001330691.3(CEP78):c.449T>C (p.Leu150Ser)
|
rs761661253
|
0.00001
|
|
NM_001330691.3(CEP78):c.966G>A (p.Trp322Ter)
|
rs1322721879
|
0.00001
|
|
NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter)
|
rs781748056
|
0.00001
|
|
NM_001351169.2(NT5C2):c.430C>T (p.Arg144Ter)
|
rs764453448
|
0.00001
|
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
0.00001
|
|
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
|
rs1342457304
|
0.00001
|
|
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
|
rs751956557
|
0.00001
|
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00001
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
0.00001
|
|
NM_001352514.2(HLCS):c.2451-1G>A
|
rs1158898827
|
0.00001
|
|
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)
|
rs780265931
|
0.00001
|
|
NM_001352754.2(ARMC9):c.879G>A (p.Thr293=)
|
rs766572502
|
0.00001
|
|
NM_001353214.3(DYM):c.1282C>T (p.Arg428Ter)
|
rs771414481
|
0.00001
|
|
NM_001353214.3(DYM):c.1728+2T>C
|
rs2087482291
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1088G>A (p.Arg363Gln)
|
rs1556335112
|
0.00001
|
|
NM_001354483.2(CSGALNACT1):c.1151C>G (p.Pro384Arg)
|
rs746391651
|
0.00001
|
|
NM_001354712.2(THRB):c.1148G>A (p.Arg383His)
|
rs121918708
|
0.00001
|
|
NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln)
|
rs1553609210
|
0.00001
|
|
NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala)
|
rs28933408
|
0.00001
|
|
NM_001354768.3(NRL):c.544C>T (p.Gln182Ter)
|
rs901811301
|
0.00001
|
|
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)
|
rs150471537
|
0.00001
|
|
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter)
|
rs779250530
|
0.00001
|
|
NM_001358530.2(MOCS1):c.1102+2T>C
|
rs1345407391
|
0.00001
|
|
NM_001358530.2(MOCS1):c.1150+20G>A
|
rs752653792
|
0.00001
|
|
NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs)
|
rs1768254382
|
0.00001
|
|
NM_001358530.2(MOCS1):c.367C>T (p.Arg123Trp)
|
rs779592342
|
0.00001
|
|
NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter)
|
rs1266681695
|
0.00001
|
|
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln)
|
rs104893969
|
0.00001
|
|
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)
|
rs80338860
|
0.00001
|
|
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)
|
rs373306653
|
0.00001
|
|
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)
|
rs779709646
|
0.00001
|
|
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter)
|
rs1555145605
|
0.00001
|
|
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)
|
rs770819693
|
0.00001
|
|
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)
|
rs1046560765
|
0.00001
|
|
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)
|
rs535561852
|
0.00001
|
|
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)
|
rs761458977
|
0.00001
|
|
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)
|
rs760428437
|
0.00001
|
|
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)
|
rs121912195
|
0.00001
|
|
NM_001360.3(DHCR7):c.412+3A>T
|
rs786200926
|
0.00001
|
|
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)
|
rs753960624
|
0.00001
|
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
|
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser)
|
rs769218623
|
0.00001
|
|
NM_001360.3(DHCR7):c.545G>A (p.Trp182Ter)
|
rs536394774
|
0.00001
|
|
NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter)
|
rs749076525
|
0.00001
|
|
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)
|
rs779896782
|
0.00001
|
|
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg)
|
rs777248132
|
0.00001
|
|
NM_001360.3(DHCR7):c.76C>T (p.Gln26Ter)
|
rs1949389789
|
0.00001
|
|
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter)
|
rs756564881
|
0.00001
|
|
NM_001360.3(DHCR7):c.831+2T>A
|
rs1057516920
|
0.00001
|
|
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607
|
0.00001
|
|
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu)
|
rs184297154
|
0.00001
|
|
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)
|
rs121909765
|
0.00001
|
|
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter)
|
rs774187452
|
0.00001
|
|
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His)
|
rs1557229572
|
0.00001
|
|
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)
|
rs782308266
|
0.00001
|
|
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)
|
rs78365220
|
0.00001
|
|
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)
|
rs979416826
|
0.00001
|
|
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe)
|
rs782315572
|
0.00001
|
|
NM_001360016.2(G6PD):c.679C>T (p.Arg227Trp)
|
rs1557230213
|
0.00001
|
|
NM_001363118.2(SLC52A2):c.1088C>T (p.Pro363Leu)
|
rs797045202
|
0.00001
|
|
NM_001363118.2(SLC52A2):c.368T>C (p.Leu123Pro)
|
rs397514538
|
0.00001
|
|
NM_001363711.2(DUOX2):c.1478del (p.His493fs)
|
rs751410726
|
0.00001
|
|
NM_001363711.2(DUOX2):c.1606C>T (p.Arg536Ter)
|
rs368967911
|
0.00001
|
|
NM_001363711.2(DUOX2):c.2713G>T (p.Glu905Ter)
|
rs776336201
|
0.00001
|
|
NM_001363711.2(DUOX2):c.3076C>T (p.Gln1026Ter)
|
rs935436918
|
0.00001
|
|
NM_001363711.2(DUOX2):c.3516-1G>C
|
rs764517475
|
0.00001
|
|
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter)
|
rs752269093
|
0.00001
|
|
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
|
rs368167203
|
0.00001
|
|
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
|
rs1345661967
|
0.00001
|
|
NM_001365088.1(SLC12A6):c.2043-2A>G
|
rs1372841592
|
0.00001
|
|
NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter)
|
rs751184319
|
0.00001
|
|
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter)
|
rs1057516262
|
0.00001
|
|
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)
|
rs199747285
|
0.00001
|
|
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys)
|
rs121908429
|
0.00001
|
|
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs)
|
rs776790336
|
0.00001
|
|
NM_001365276.2(TNXB):c.7826-1G>C
|
rs200357005
|
0.00001
|
|
NM_001365276.2(TNXB):c.8995del (p.Arg2999fs)
|
rs750030373
|
0.00001
|
|
NM_001365276.2(TNXB):c.9770C>T (p.Thr3257Ile)
|
rs587777683
|
0.00001
|
|
NM_001365308.1(BMPER):c.816C>A (p.Cys272Ter)
|
rs777026516
|
0.00001
|
|
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter)
|
rs780673293
|
0.00001
|
|
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs)
|
rs1553473041
|
0.00001
|
|
NM_001365999.1(SZT2):c.2476C>T (p.Arg826Ter)
|
rs767342365
|
0.00001
|
|
NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter)
|
rs761810492
|
0.00001
|
|
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter)
|
rs764896693
|
0.00001
|
|
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter)
|
rs1654854600
|
0.00001
|
|
NM_001365999.1(SZT2):c.8659C>T (p.Arg2887Ter)
|
rs200178393
|
0.00001
|
|
NM_001365999.1(SZT2):c.9478C>T (p.Gln3160Ter)
|
rs1570741194
|
0.00001
|
|
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs)
|
rs770283117
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7294C>T (p.Gln2432Ter)
|
rs1906450508
|
0.00001
|
|
NM_001367975.1(BTG4):c.166G>A (p.Ala56Thr)
|
rs1865879702
|
0.00001
|
|
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)
|
rs587777395
|
0.00001
|
|
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser)
|
rs755407407
|
0.00001
|
|
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)
|
rs886039500
|
0.00001
|
|
NM_001369.3(DNAH5):c.11029-2A>T
|
rs369312501
|
0.00001
|
|
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter)
|
rs2126564103
|
0.00001
|
|
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter)
|
rs760104757
|
0.00001
|
|
NM_001369.3(DNAH5):c.13633T>C (p.Trp4545Arg)
|
rs1161303371
|
0.00001
|
|
NM_001369.3(DNAH5):c.252T>G (p.Tyr84Ter)
|
rs754982008
|
0.00001
|
|
NM_001369.3(DNAH5):c.2533C>T (p.Gln845Ter)
|
rs1060501458
|
0.00001
|
|
NM_001369.3(DNAH5):c.2674del (p.Val892fs)
|
rs1772380356
|
0.00001
|
|
NM_001369.3(DNAH5):c.4117-2A>G
|
rs1467301649
|
0.00001
|
|
NM_001369.3(DNAH5):c.4314del (p.Asn1438fs)
|
rs765355281
|
0.00001
|
|
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)
|
rs771663107
|
0.00001
|
|
NM_001369.3(DNAH5):c.5883-1G>A
|
rs1195745037
|
0.00001
|
|
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter)
|
rs773711154
|
0.00001
|
|
NM_001369.3(DNAH5):c.6304C>T (p.Arg2102Cys)
|
rs767019228
|
0.00001
|
|
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)
|
rs769260126
|
0.00001
|
|
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs)
|
rs779506456
|
0.00001
|
|
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp)
|
rs868151020
|
0.00001
|
|
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)
|
rs375053470
|
0.00001
|
|
NM_001369.3(DNAH5):c.8010+3A>G
|
rs748171209
|
0.00001
|
|
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln)
|
rs886043448
|
0.00001
|
|
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter)
|
rs781469274
|
0.00001
|
|
NM_001369.3(DNAH5):c.832del (p.Ala278fs)
|
rs727502977
|
0.00001
|
|
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)
|
rs560398270
|
0.00001
|
|
NM_001369.3(DNAH5):c.8497C>T (p.Arg2833Cys)
|
rs766481283
|
0.00001
|
|
NM_001369.3(DNAH5):c.8998C>T (p.Arg3000Ter)
|
rs769054713
|
0.00001
|
|
NM_001369.3(DNAH5):c.9018C>T (p.Gly3006=)
|
rs1754239719
|
0.00001
|
|
NM_001369.3(DNAH5):c.9379G>T (p.Glu3127Ter)
|
rs758303032
|
0.00001
|
|
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter)
|
rs863224504
|
0.00001
|
|
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs)
|
rs1305797678
|
0.00001
|
|
NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter)
|
rs1752923333
|
0.00001
|
|
NM_001369.3(DNAH5):c.9980del (p.Leu3327fs)
|
rs1752478598
|
0.00001
|
|
NM_001369268.1(ACAN):c.1156C>T (p.Arg386Ter)
|
rs773948197
|
0.00001
|
|
NM_001369268.1(ACAN):c.6912C>A (p.Cys2304Ter)
|
rs1489993778
|
0.00001
|
|
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)
|
rs1298484645
|
0.00001
|
|
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)
|
rs863224810
|
0.00001
|
|
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser)
|
rs1085307471
|
0.00001
|
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00001
|
|
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)
|
rs397514410
|
0.00001
|
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
|
NM_001370658.1(BTD):c.124G>A (p.Val42Met)
|
rs397507170
|
0.00001
|
|
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)
|
rs397514402
|
0.00001
|
|
NM_001370658.1(BTD):c.1324del (p.Arg442fs)
|
rs397514420
|
0.00001
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
0.00001
|
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
|
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)
|
rs397514429
|
0.00001
|
|
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys)
|
rs397514431
|
0.00001
|
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
|
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)
|
rs587783002
|
0.00001
|
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
|
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)
|
rs1306944669
|
0.00001
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
0.00001
|
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
|
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)
|
rs397514364
|
0.00001
|
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
|
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)
|
rs372844636
|
0.00001
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
0.00001
|
|
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)
|
rs397514381
|
0.00001
|
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
|
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)
|
rs397514387
|
0.00001
|
|
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)
|
rs148031701
|
0.00001
|
|
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)
|
rs749162799
|
0.00001
|
|
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)
|
rs1303877451
|
0.00001
|
|
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)
|
rs267607235
|
0.00001
|
|
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)
|
rs559155109
|
0.00001
|
|
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln)
|
rs1275962600
|
0.00001
|
|
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His)
|
rs749704755
|
0.00001
|
|
NM_001371904.1(APOA5):c.427del (p.Arg143fs)
|
rs777046568
|
0.00001
|
|
NM_001371904.1(APOA5):c.888del (p.Ile296fs)
|
rs1477198098
|
0.00001
|
|
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter)
|
rs200659479
|
0.00001
|
|
NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter)
|
rs864321622
|
0.00001
|
|
NM_001371986.1(UNC80):c.4110+1G>C
|
rs371905161
|
0.00001
|
|
NM_001372044.2(SHANK3):c.2455+1G>A
|
rs1396379503
|
0.00001
|
|
NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp)
|
rs17860424
|
0.00001
|
|
NM_001372106.1(DNAH10):c.13192G>A (p.Gly4398Arg)
|
rs759073156
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln)
|
rs1202682161
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter)
|
rs775370485
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2097+2T>C
|
rs387906381
|
0.00001
|
|
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter)
|
rs137853121
|
0.00001
|
|
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs)
|
rs1384933966
|
0.00001
|
|
NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter)
|
rs137853123
|
0.00001
|
|
NM_001374623.1(PNPLA1):c.100G>A (p.Ala34Thr)
|
rs1182312612
|
0.00001
|
|
NM_001374623.1(PNPLA1):c.488C>T (p.Pro163Leu)
|
rs777658285
|
0.00001
|
|
NM_001374623.1(PNPLA1):c.496C>T (p.Arg166Cys)
|
rs372072356
|
0.00001
|
|
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu)
|
rs376245108
|
0.00001
|
|
NM_001375405.1(CEP120):c.451C>T (p.Arg151Ter)
|
rs757499322
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter)
|
rs943680446
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter)
|
rs764769351
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs)
|
rs756811136
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys)
|
rs137853030
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.244C>T (p.Arg82Ter)
|
rs1249901214
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter)
|
rs373335226
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter)
|
rs755305630
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs)
|
rs755338872
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp)
|
rs745569868
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val)
|
rs1043384862
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.4964A>G (p.Tyr1655Cys)
|
rs1461272672
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn)
|
rs756556129
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu)
|
rs137853025
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val)
|
rs963717773
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)
|
rs137853031
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.6866T>C (p.Leu2289Pro)
|
rs1555061205
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.7112C>T (p.Thr2371Ile)
|
rs1322884865
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly)
|
rs1555062849
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter)
|
rs537704873
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser)
|
rs762588952
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.7643T>C (p.Phe2548Ser)
|
rs1555064376
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met)
|
rs746195428
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.767-2A>G
|
rs762873763
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys)
|
rs758155107
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp)
|
rs964711006
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln)
|
rs397514635
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter)
|
rs747857715
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.8197G>T (p.Gly2733Cys)
|
rs969015057
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.8311+1G>A
|
rs1555068270
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.9638A>G (p.Tyr3213Cys)
|
rs923729821
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn)
|
rs780600124
|
0.00001
|
|
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter)
|
rs748981899
|
0.00001
|
|
NM_001377299.1(NDUFS2):c.1237T>C (p.Ser413Pro)
|
rs121434429
|
0.00001
|
|
NM_001378156.1(C1QB):c.523C>T (p.Arg175Ter)
|
rs751172449
|
0.00001
|
|
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter)
|
rs886039821
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)
|
rs1275113273
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp)
|
rs1250097723
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)
|
rs1192396248
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)
|
rs1473611414
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs)
|
rs1553421496
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11669-1G>A
|
rs750737346
|
0.00001
|
|
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter)
|
rs755760721
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter)
|
rs190439406
|
0.00001
|
|
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)
|
rs750326619
|
0.00001
|
|
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs)
|
rs753301358
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3649A>T (p.Lys1217Ter)
|
rs779928593
|
0.00001
|
|
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter)
|
rs1392057115
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs)
|
rs1296683633
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4180C>T (p.Gln1394Ter)
|
rs969786171
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter)
|
rs778728424
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4544del (p.Ala1515fs)
|
rs745461983
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter)
|
rs1558649531
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter)
|
rs1572935708
|
0.00001
|
|
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)
|
rs1671237172
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter)
|
rs759024519
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)
|
rs749339938
|
0.00001
|
|
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)
|
rs771994237
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6479del (p.His2160fs)
|
rs1200296507
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)
|
rs761713440
|
0.00001
|
|
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)
|
rs989080548
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)
|
rs1198051503
|
0.00001
|
|
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs)
|
rs748892226
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
|
rs1457913004
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter)
|
rs956247442
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs)
|
rs754702823
|
0.00001
|
|
NM_001378457.1(DMXL2):c.3759_3760del (p.Trp1254fs)
|
rs1325372369
|
0.00001
|
|
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val)
|
rs1277996676
|
0.00001
|
|
NM_001378609.3(OTOGL):c.4146_4147del (p.Cys1383fs)
|
rs746782348
|
0.00001
|
|
NM_001378609.3(OTOGL):c.4199+1G>A
|
rs1887509362
|
0.00001
|
|
NM_001378609.3(OTOGL):c.4341del (p.Met1447fs)
|
rs766971906
|
0.00001
|
|
NM_001378609.3(OTOGL):c.4543C>T (p.Arg1515Ter)
|
rs758437499
|
0.00001
|
|
NM_001378609.3(OTOGL):c.5743C>T (p.Arg1915Ter)
|
rs1064796988
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)
|
rs757208121
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
|
rs781252161
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2486+1G>C
|
rs386833747
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter)
|
rs386833748
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)
|
rs118204052
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)
|
rs386833763
|
0.00001
|
|
NM_001378778.1(MPDZ):c.1897C>T (p.Arg633Ter)
|
rs200955619
|
0.00001
|
|
NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs)
|
rs747068627
|
0.00001
|
|
NM_001379210.1(SLC25A26):c.33+1G>A
|
rs781798317
|
0.00001
|
|
NM_001379270.1(CNGA1):c.1258C>T (p.Arg420Ter)
|
rs369717052
|
0.00001
|
|
NM_001379500.1(COL18A1):c.2338C>T (p.Gln780Ter)
|
rs786205554
|
0.00001
|
|
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter)
|
rs753824908
|
0.00001
|
|
NM_001379659.1(ZNF142):c.1765_1766del (p.Asp589fs)
|
rs750681891
|
0.00001
|
|
NM_001379659.1(ZNF142):c.4298G>T (p.Cys1433Phe)
|
rs1275959058
|
0.00001
|
|
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His)
|
rs768416381
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904
|
0.00001
|
|
NM_001384140.1(PCDH15):c.158-2A>T
|
rs1304228309
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)
|
rs267606932
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs)
|
rs781148814
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)
|
rs773404494
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3983+1G>T
|
rs758921360
|
0.00001
|
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.1021C>T (p.Arg341Ter)
|
rs931911802
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.4282C>T (p.Arg1428Ter)
|
rs932266011
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.4741-1G>A
|
rs1057524755
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)
|
rs1598914701
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter)
|
rs960741408
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter)
|
rs1223508098
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg)
|
rs780560784
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.6130C>T (p.Arg2044Ter)
|
rs1306586204
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe)
|
rs794727154
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.3550C>T (p.Arg1184Cys)
|
rs1434631255
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.3859G>C (p.Asp1287His)
|
rs606231261
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs)
|
rs1398880084
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)
|
rs749523755
|
0.00001
|
|
NM_001386140.1(MTTP):c.1392del (p.Glu465fs)
|
rs1725827570
|
0.00001
|
|
NM_001386140.1(MTTP):c.1867+5G>A
|
rs1429774833
|
0.00001
|
|
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)
|
rs763496520
|
0.00001
|
|
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter)
|
rs137852968
|
0.00001
|
|
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)
|
rs137852965
|
0.00001
|
|
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp)
|
rs137852961
|
0.00001
|
|
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)
|
rs368682034
|
0.00001
|
|
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys)
|
rs137852962
|
0.00001
|
|
NM_001386393.1(PANK2):c.635A>G (p.Glu212Gly)
|
rs768230831
|
0.00001
|
|
NM_001387263.1(PATL2):c.649T>A (p.Tyr217Asn)
|
rs1361024832
|
0.00001
|
|
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter)
|
rs80356520
|
0.00001
|
|
NM_001458.5(FLNC):c.3180del (p.Asp1061fs)
|
rs1064795229
|
0.00001
|
|
NM_001458.5(FLNC):c.3791-1G>C
|
rs781135153
|
0.00001
|
|
NM_001458.5(FLNC):c.5199+1G>T
|
rs1465588989
|
0.00001
|
|
NM_001482.3(GATM):c.778C>T (p.Arg260Ter)
|
rs775933965
|
0.00001
|
|
NM_001492.6(GDF1):c.608G>A (p.Trp203Ter)
|
rs1359321518
|
0.00001
|
|
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg)
|
rs770272088
|
0.00001
|
|
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
|
NM_001558.4(IL10RA):c.537G>A (p.Thr179=)
|
rs1419560997
|
0.00001
|
|
NM_001561.6(TNFRSF9):c.400C>T (p.Arg134Ter)
|
rs771142611
|
0.00001
|
|
NM_001563.4(IMPG1):c.378G>A (p.Trp126Ter)
|
rs373792616
|
0.00001
|
|
NM_001567.4(INPPL1):c.768_769del (p.Glu258fs)
|
rs746647683
|
0.00001
|
|
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)
|
rs1398433261
|
0.00001
|
|
NM_001609.4(ACADSB):c.1228G>A (p.Gly410Ser)
|
rs387906409
|
0.00001
|
|
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)
|
rs760791287
|
0.00001
|
|
NM_001609.4(ACADSB):c.303+3A>G
|
rs1345480688
|
0.00001
|
|
NM_001609.4(ACADSB):c.653dup (p.Val219fs)
|
rs755014798
|
0.00001
|
|
NM_001609.4(ACADSB):c.923G>A (p.Cys308Tyr)
|
rs770456976
|
0.00001
|
|
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg)
|
rs781199182
|
0.00001
|
|
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys)
|
rs112901682
|
0.00001
|
|
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys)
|
rs121434526
|
0.00001
|
|
NM_001673.5(ASNS):c.1192dup (p.Tyr398fs)
|
rs773348232
|
0.00001
|
|
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe)
|
rs754043007
|
0.00001
|
|
NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys)
|
rs398122974
|
0.00001
|
|
NM_001673.5(ASNS):c.187C>T (p.Arg63Ter)
|
rs373645939
|
0.00001
|
|
NM_001673.5(ASNS):c.706del (p.Arg236fs)
|
rs1791584683
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.1248+1G>C
|
rs1553420702
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)
|
rs121964880
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.469C>T (p.Arg157Cys)
|
rs782500780
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.988G>A (p.Glu330Lys)
|
rs781800676
|
0.00001
|
|
NM_001737.5(C9):c.577del (p.Tyr193fs)
|
rs778518669
|
0.00001
|
|
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
|
rs1409888746
|
0.00001
|
|
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=)
|
rs794727533
|
0.00001
|
|
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)
|
rs1399676515
|
0.00001
|
|
NM_001846.4(COL4A2):c.1776+1G>A
|
rs886039602
|
0.00001
|
|
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)
|
rs797044947
|
0.00001
|
|
NM_001846.4(COL4A2):c.4165G>A (p.Gly1389Arg)
|
rs1670170578
|
0.00001
|
|
NM_001848.3(COL6A1):c.1693C>T (p.Arg565Ter)
|
rs1304888945
|
0.00001
|
|
NM_001849.4(COL6A2):c.1396-1G>A
|
rs1331260332
|
0.00001
|
|
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)
|
rs749593004
|
0.00001
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
0.00001
|
|
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)
|
rs387906610
|
0.00001
|
|
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter)
|
rs745532481
|
0.00001
|
|
NM_001853.4(COL9A3):c.799C>T (p.Arg267Ter)
|
rs1423359801
|
0.00001
|
|
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter)
|
rs776004614
|
0.00001
|
|
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)
|
rs372419698
|
0.00001
|
|
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met)
|
rs121912592
|
0.00001
|
|
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)
|
rs759201450
|
0.00001
|
|
NM_001875.5(CPS1):c.1926del (p.Asp642fs)
|
rs1326644714
|
0.00001
|
|
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter)
|
rs1251623714
|
0.00001
|
|
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)
|
rs772782772
|
0.00001
|
|
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)
|
rs765484849
|
0.00001
|
|
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)
|
rs1318756445
|
0.00001
|
|
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)
|
rs1375304341
|
0.00001
|
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
|
NM_001875.5(CPS1):c.4357C>T (p.Arg1453Trp)
|
rs933813349
|
0.00001
|
|
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys)
|
rs767905306
|
0.00001
|
|
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)
|
rs761225695
|
0.00001
|
|
NM_001876.4(CPT1A):c.1339C>T (p.Arg447Ter)
|
rs397515543
|
0.00001
|
|
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter)
|
rs773153659
|
0.00001
|
|
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)
|
rs80356780
|
0.00001
|
|
NM_001876.4(CPT1A):c.589G>T (p.Glu197Ter)
|
rs1211665230
|
0.00001
|
|
NM_001876.4(CPT1A):c.704G>A (p.Trp235Ter)
|
rs1855769135
|
0.00001
|
|
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)
|
rs779893091
|
0.00001
|
|
NM_001876.4(CPT1A):c.740C>T (p.Pro247Leu)
|
rs763570668
|
0.00001
|
|
NM_001903.5(CTNNA1):c.2191C>T (p.Arg731Ter)
|
rs1401839892
|
0.00001
|
|
NM_001918.5(DBT):c.1017G>A (p.Lys339=)
|
rs1490661508
|
0.00001
|
|
NM_001918.5(DBT):c.1281+1G>T
|
rs1557943881
|
0.00001
|
|
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)
|
rs398123660
|
0.00001
|
|
NM_001918.5(DBT):c.1430T>G (p.Met477Arg)
|
rs398123662
|
0.00001
|
|
NM_001918.5(DBT):c.206T>C (p.Leu69Pro)
|
rs1663813561
|
0.00001
|
|
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)
|
rs727503896
|
0.00001
|
|
NM_001918.5(DBT):c.434-15_434-4del
|
rs727503895
|
0.00001
|
|
NM_001918.5(DBT):c.52-1G>A
|
rs755914063
|
0.00001
|
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
|
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)
|
rs119103240
|
0.00001
|
|
NM_001931.5(DLAT):c.975G>A (p.Pro325=)
|
rs1432866316
|
0.00001
|
|
NM_001942.4(DSG1):c.133C>T (p.Arg45Ter)
|
rs1182196436
|
0.00001
|
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
|
NM_001953.5(TYMP):c.1300+1G>A
|
rs1064792878
|
0.00001
|
|
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter)
|
rs2069504242
|
0.00001
|
|
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)
|
rs1064792861
|
0.00001
|
|
NM_001953.5(TYMP):c.646+1G>A
|
rs760629248
|
0.00001
|
|
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)
|
rs121913042
|
0.00001
|
|
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys)
|
rs946234163
|
0.00001
|
|
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)
|
rs774387920
|
0.00001
|
|
NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)
|
rs1193726585
|
0.00001
|
|
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
|
rs1985903483
|
0.00001
|
|
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)
|
rs148045813
|
0.00001
|
|
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
|
rs374288379
|
0.00001
|
|
NM_002016.2(FLG):c.6834_6838del (p.Ser2279fs)
|
rs772007167
|
0.00001
|
|
NM_002016.2(FLG):c.7564C>T (p.Gln2522Ter)
|
rs767261854
|
0.00001
|
|
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)
|
rs797044590
|
0.00001
|
|
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)
|
rs758432471
|
0.00001
|
|
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)
|
rs752746786
|
0.00001
|
|
NM_002076.4(GNS):c.355del (p.Ser119fs)
|
rs749187018
|
0.00001
|
|
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs)
|
rs1598364961
|
0.00001
|
|
NM_002087.4(GRN):c.708+1G>A
|
rs63749817
|
0.00001
|
|
NM_002133.3(HMOX1):c.636+2T>A
|
rs747083748
|
0.00001
|
|
NM_002150.3(HPD):c.43C>T (p.Arg15Ter)
|
rs775747384
|
0.00001
|
|
NM_002150.3(HPD):c.479A>G (p.Tyr160Cys)
|
rs137852865
|
0.00001
|
|
NM_002150.3(HPD):c.613C>T (p.Gln205Ter)
|
rs762267460
|
0.00001
|
|
NM_002150.3(HPD):c.75G>A (p.Trp25Ter)
|
rs367674632
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg)
|
rs1347461335
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)
|
rs199839840
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.547+1G>A
|
rs1057518588
|
0.00001
|
|
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)
|
rs141698985
|
0.00001
|
|
NM_002185.5(IL7R):c.83-2A>T
|
rs886060531
|
0.00001
|
|
NM_002204.4(ITGA3):c.1387C>T (p.Arg463Trp)
|
rs797044989
|
0.00001
|
|
NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter)
|
rs755438542
|
0.00001
|
|
NM_002206.3(ITGA7):c.247C>T (p.Gln83Ter)
|
rs1055839662
|
0.00001
|
|
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
|
rs1355297002
|
0.00001
|
|
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter)
|
rs368705240
|
0.00001
|
|
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)
|
rs754600862
|
0.00001
|
|
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)
|
rs544110604
|
0.00001
|
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
|
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
|
rs773560012
|
0.00001
|
|
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)
|
rs1237032588
|
0.00001
|
|
NM_002225.5(IVD):c.149G>A (p.Arg50His)
|
rs2229311
|
0.00001
|
|
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)
|
rs765815516
|
0.00001
|
|
NM_002225.5(IVD):c.286+2T>C
|
rs748026507
|
0.00001
|
|
NM_002225.5(IVD):c.381del (p.Ala128fs)
|
rs769048174
|
0.00001
|
|
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
|
rs398123682
|
0.00001
|
|
NM_002225.5(IVD):c.456+2T>C
|
rs398123683
|
0.00001
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
0.00001
|
|
NM_002225.5(IVD):c.498del (p.Glu166fs)
|
rs398123684
|
0.00001
|
|
NM_002225.5(IVD):c.506_507insT (p.Gly170fs)
|
rs1462096457
|
0.00001
|
|
NM_002225.5(IVD):c.784+1G>A
|
rs763471771
|
0.00001
|
|
NM_002225.5(IVD):c.863C>T (p.Ala288Val)
|
rs886042098
|
0.00001
|
|
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
|
rs568885234
|
0.00001
|
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
|
NM_002230.4(JUP):c.902A>G (p.Glu301Gly)
|
rs782058451
|
0.00001
|
|
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val)
|
rs121908592
|
0.00001
|
|
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)
|
rs138943405
|
0.00001
|
|
NM_002246.3(KCNK3):c.544G>A (p.Glu182Lys)
|
rs398123042
|
0.00001
|
|
NM_002292.4(LAMB2):c.1405C>T (p.Arg469Ter)
|
rs746765362
|
0.00001
|
|
NM_002292.4(LAMB2):c.1564del (p.Cys522fs)
|
rs1377725272
|
0.00001
|
|
NM_002292.4(LAMB2):c.440A>G (p.His147Arg)
|
rs387906644
|
0.00001
|
|
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)
|
rs121912488
|
0.00001
|
|
NM_002296.4(LBR):c.1174G>A (p.Gly392Arg)
|
rs1236962991
|
0.00001
|
|
NM_002296.4(LBR):c.1366C>G (p.Leu456Val)
|
rs377110126
|
0.00001
|
|
NM_002299.4(LCT):c.2359A>T (p.Lys787Ter)
|
rs962540601
|
0.00001
|
|
NM_002299.4(LCT):c.4967_4976del (p.Asn1656fs)
|
rs2077596325
|
0.00001
|
|
NM_002335.4(LRP5):c.1321G>A (p.Glu441Lys)
|
rs376152274
|
0.00001
|
|
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met)
|
rs1398692057
|
0.00001
|
|
NM_002340.6(LSS):c.1762G>A (p.Gly588Ser)
|
rs561449819
|
0.00001
|
|
NM_002354.3(EPCAM):c.307G>A (p.Gly103Arg)
|
rs1346393896
|
0.00001
|
|
NM_002381.5(MATN3):c.359C>T (p.Thr120Met)
|
rs397515546
|
0.00001
|
|
NM_002386.4(MC1R):c.840del (p.Phe280fs)
|
rs2045705764
|
0.00001
|
|
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)
|
rs545185248
|
0.00001
|
|
NM_002427.4(MMP13):c.1052-1G>C
|
rs782613055
|
0.00001
|
|
NM_002435.3(MPI):c.1253G>A (p.Arg418His)
|
rs863225087
|
0.00001
|
|
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)
|
rs1452559752
|
0.00001
|
|
NM_002435.3(MPI):c.166C>T (p.Arg56Ter)
|
rs757168691
|
0.00001
|
|
NM_002435.3(MPI):c.251C>G (p.Ser84Ter)
|
rs978284448
|
0.00001
|
|
NM_002435.3(MPI):c.488-1G>C
|
rs759579169
|
0.00001
|
|
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)
|
rs1057516424
|
0.00001
|
|
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)
|
rs776340315
|
0.00001
|
|
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)
|
rs140992482
|
0.00001
|
|
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)
|
rs121909724
|
0.00001
|
|
NM_002437.5(MPV17):c.409-1G>C
|
rs886044280
|
0.00001
|
|
NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter)
|
rs139170496
|
0.00001
|
|
NM_002439.5(MSH3):c.1360C>T (p.Arg454Ter)
|
rs539295465
|
0.00001
|
|
NM_002439.5(MSH3):c.1428T>A (p.Tyr476Ter)
|
rs1398195482
|
0.00001
|
|
NM_002439.5(MSH3):c.2179C>T (p.Arg727Ter)
|
rs376667075
|
0.00001
|
|
NM_002439.5(MSH3):c.2200C>T (p.Arg734Ter)
|
rs770330684
|
0.00001
|
|
NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter)
|
rs1580035037
|
0.00001
|
|
NM_002439.5(MSH3):c.2319-1G>A
|
rs866260675
|
0.00001
|
|
NM_002439.5(MSH3):c.237+2T>C
|
rs1480047980
|
0.00001
|
|
NM_002439.5(MSH3):c.978_984del (p.Phe326fs)
|
rs1475633334
|
0.00001
|
|
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter)
|
rs1421007019
|
0.00001
|
|
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
|
rs137853062
|
0.00001
|
|
NM_002454.3(MTRR):c.1554_1557+3del
|
rs754619743
|
0.00001
|
|
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)
|
rs1293600145
|
0.00001
|
|
NM_002454.3(MTRR):c.230del (p.Gln77fs)
|
rs1408257020
|
0.00001
|
|
NM_002470.4(MYH3):c.4525G>T (p.Glu1509Ter)
|
rs2074186150
|
0.00001
|
|
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)
|
rs80338827
|
0.00001
|
|
NM_002476.2(MYL4):c.234del (p.Cys78fs)
|
rs776650813
|
0.00001
|
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
|
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)
|
rs1810540992
|
0.00001
|
|
NM_002485.5(NBN):c.171+3A>G
|
rs1487002693
|
0.00001
|
|
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)
|
rs786201745
|
0.00001
|
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
|
NM_002485.5(NBN):c.2184+1G>T
|
rs756363734
|
0.00001
|
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
|
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)
|
rs779098734
|
0.00001
|
|
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)
|
rs747359752
|
0.00001
|
|
NM_002496.4(NDUFS8):c.413G>A (p.Arg138His)
|
rs111033588
|
0.00001
|
|
NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg)
|
rs1466750124
|
0.00001
|
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
|
NM_002528.7(NTHL1):c.116-1G>A
|
rs1411394625
|
0.00001
|
|
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter)
|
rs2084372140
|
0.00001
|
|
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)
|
rs374489979
|
0.00001
|
|
NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)
|
rs1198246754
|
0.00001
|
|
NM_002528.7(NTHL1):c.685+1G>A
|
rs372946560
|
0.00001
|
|
NM_002528.7(NTHL1):c.795del (p.Glu265fs)
|
rs1173366565
|
0.00001
|
|
NM_002528.7(NTHL1):c.800G>A (p.Trp267Ter)
|
rs1176002553
|
0.00001
|
|
NM_002529.4(NTRK1):c.1550G>A (p.Gly517Glu)
|
rs606231467
|
0.00001
|
|
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr)
|
rs80356677
|
0.00001
|
|
NM_002529.4(NTRK1):c.2074C>T (p.Arg692Cys)
|
rs761967383
|
0.00001
|
|
NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu)
|
rs121964868
|
0.00001
|
|
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp)
|
rs759637817
|
0.00001
|
|
NM_002529.4(NTRK1):c.2303C>T (p.Pro768Leu)
|
rs756981419
|
0.00001
|
|
NM_002529.4(NTRK1):c.2311C>T (p.Arg771Cys)
|
rs1324983370
|
0.00001
|
|
NM_002529.4(NTRK1):c.2312G>A (p.Arg771His)
|
rs780724170
|
0.00001
|
|
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro)
|
rs747711259
|
0.00001
|
|
NM_002615.7(SERPINF1):c.907C>T (p.Arg303Ter)
|
rs763291398
|
0.00001
|
|
NM_002617.4(PEX10):c.295del (p.His99fs)
|
rs1557910651
|
0.00001
|
|
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
|
rs571178917
|
0.00001
|
|
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp)
|
rs748019294
|
0.00001
|
|
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)
|
rs745993071
|
0.00001
|
|
NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)
|
rs377295149
|
0.00001
|
|
NM_002635.4(SLC25A3):c.158-303A>G
|
rs745305932
|
0.00001
|
|
NM_002637.4(PHKA1):c.389G>A (p.Trp130Ter)
|
rs1556327000
|
0.00001
|
|
NM_002662.5(PLD1):c.2430-1G>A
|
rs760657350
|
0.00001
|
|
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)
|
rs111033560
|
0.00001
|
|
NM_002693.3(POLG):c.1433+2T>C
|
rs920850257
|
0.00001
|
|
NM_002693.3(POLG):c.163C>T (p.Gln55Ter)
|
rs2055626123
|
0.00001
|
|
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)
|
rs764287987
|
0.00001
|
|
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp)
|
rs556925652
|
0.00001
|
|
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)
|
rs796052888
|
0.00001
|
|
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)
|
rs778429780
|
0.00001
|
|
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro)
|
rs121918051
|
0.00001
|
|
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)
|
rs140079523
|
0.00001
|
|
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)
|
rs761649878
|
0.00001
|
|
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys)
|
rs56047213
|
0.00001
|
|
NM_002693.3(POLG):c.3483-4_3497del
|
rs756325504
|
0.00001
|
|
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)
|
rs776031396
|
0.00001
|
|
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)
|
rs781256643
|
0.00001
|
|
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)
|
rs121918056
|
0.00001
|
|
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)
|
rs769410130
|
0.00001
|
|
NM_002693.3(POLG):c.926G>A (p.Arg309His)
|
rs780953863
|
0.00001
|
|
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
|
rs111033565
|
0.00001
|
|
NM_002772.3(TMPRSS15):c.1350dup (p.Val451fs)
|
rs765937590
|
0.00001
|
|
NM_002775.5(HTRA1):c.496C>T (p.Arg166Cys)
|
rs2097494390
|
0.00001
|
|
NM_002775.5(HTRA1):c.589C>T (p.Arg197Ter)
|
rs1438223502
|
0.00001
|
|
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile)
|
rs121918103
|
0.00001
|
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
|
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)
|
rs397507541
|
0.00001
|
|
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)
|
rs397507546
|
0.00001
|
|
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)
|
rs121918470
|
0.00001
|
|
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)
|
rs397507504
|
0.00001
|
|
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala)
|
rs886043790
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)
|
rs762742204
|
0.00001
|
|
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)
|
rs749922511
|
0.00001
|
|
NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter)
|
rs775365939
|
0.00001
|
|
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter)
|
rs771007945
|
0.00001
|
|
NM_002887.4(RARS1):c.1414C>T (p.Arg472Ter)
|
rs180760483
|
0.00001
|
|
NM_002887.4(RARS1):c.1452+1G>A
|
rs1358682351
|
0.00001
|
|
NM_002887.4(RARS1):c.175C>T (p.Arg59Ter)
|
rs749027104
|
0.00001
|
|
NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs)
|
rs1555211286
|
0.00001
|
|
NM_002905.5(RDH5):c.285G>A (p.Trp95Ter)
|
rs774122562
|
0.00001
|
|
NM_002906.4(RDX):c.698+1G>A
|
rs1191259480
|
0.00001
|
|
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
|
rs2600447
|
0.00001
|
|
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile)
|
rs766294940
|
0.00001
|
|
NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter)
|
rs1431830142
|
0.00001
|
|
NM_002972.4(SBF1):c.1249A>G (p.Met417Val)
|
rs587776986
|
0.00001
|
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
|
NM_003000.3(SDHB):c.143A>T (p.Asp48Val)
|
rs202101384
|
0.00001
|
|
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala)
|
rs876658713
|
0.00001
|
|
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)
|
rs587782243
|
0.00001
|
|
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)
|
rs778952116
|
0.00001
|
|
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)
|
rs777578399
|
0.00001
|
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
|
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)
|
rs397516836
|
0.00001
|
|
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
|
rs200245469
|
0.00001
|
|
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)
|
rs138996609
|
0.00001
|
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
|
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)
|
rs756676111
|
0.00001
|
|
NM_003001.5(SDHC):c.215G>A (p.Arg72His)
|
rs778582853
|
0.00001
|
|
NM_003001.5(SDHC):c.380A>G (p.His127Arg)
|
rs786203457
|
0.00001
|
|
NM_003001.5(SDHC):c.405+1G>T
|
rs587776653
|
0.00001
|
|
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
|
NM_003038.5(SLC1A4):c.1141G>A (p.Gly381Arg)
|
rs1674240361
|
0.00001
|
|
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)
|
rs761533681
|
0.00001
|
|
NM_003038.5(SLC1A4):c.964C>T (p.Arg322Ter)
|
rs765089126
|
0.00001
|
|
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs)
|
rs770214617
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)
|
rs754008420
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)
|
rs61731073
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)
|
rs746187344
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)
|
rs781330134
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe)
|
rs72552733
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)
|
rs386134218
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)
|
rs72552734
|
0.00001
|
|
NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu)
|
rs377767445
|
0.00001
|
|
NM_003060.4(SLC22A5):c.148del (p.Cys50fs)
|
rs386134227
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser)
|
rs1157198543
|
0.00001
|
|
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
|
rs727504159
|
0.00001
|
|
NM_003060.4(SLC22A5):c.394-16T>A
|
rs775097754
|
0.00001
|
|
NM_003060.4(SLC22A5):c.394-2A>C
|
rs377724489
|
0.00001
|
|
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)
|
rs72552727
|
0.00001
|
|
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)
|
rs1178584184
|
0.00001
|
|
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)
|
rs267607052
|
0.00001
|
|
NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp)
|
rs747821417
|
0.00001
|
|
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)
|
rs386134197
|
0.00001
|
|
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)
|
rs72552723
|
0.00001
|
|
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)
|
rs386134198
|
0.00001
|
|
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)
|
rs121908888
|
0.00001
|
|
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)
|
rs756650860
|
0.00001
|
|
NM_003060.4(SLC22A5):c.71del (p.Leu24fs)
|
rs775502377
|
0.00001
|
|
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)
|
rs386134204
|
0.00001
|
|
NM_003060.4(SLC22A5):c.825-1G>C
|
rs1057516805
|
0.00001
|
|
NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)
|
rs386134208
|
0.00001
|
|
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile)
|
rs72552724
|
0.00001
|
|
NM_003060.4(SLC22A5):c.845dup (p.Trp283fs)
|
rs1580888136
|
0.00001
|
|
NM_003060.4(SLC22A5):c.847T>C (p.Trp283Arg)
|
rs72552729
|
0.00001
|
|
NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter)
|
rs931801909
|
0.00001
|
|
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)
|
rs386134212
|
0.00001
|
|
NM_003086.4(SNAPC4):c.2527+1G>A
|
rs1194239835
|
0.00001
|
|
NM_003114.5(SPAG1):c.1519dup (p.Ile507fs)
|
rs763569711
|
0.00001
|
|
NM_003114.5(SPAG1):c.2367del (p.Ser789fs)
|
rs757398573
|
0.00001
|
|
NM_003119.4(SPG7):c.1170del (p.Arg391fs)
|
rs1216905667
|
0.00001
|
|
NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter)
|
rs748555510
|
0.00001
|
|
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter)
|
rs372981030
|
0.00001
|
|
NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter)
|
rs946925151
|
0.00001
|
|
NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser)
|
rs72547552
|
0.00001
|
|
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)
|
rs1329063851
|
0.00001
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
0.00001
|
|
NM_003119.4(SPG7):c.1A>G (p.Met1Val)
|
rs794726906
|
0.00001
|
|
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)
|
rs864622094
|
0.00001
|
|
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)
|
rs879253797
|
0.00001
|
|
NM_003119.4(SPG7):c.2271del (p.Met757fs)
|
rs1217391623
|
0.00001
|
|
NM_003119.4(SPG7):c.376+1G>T
|
rs746053679
|
0.00001
|
|
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln)
|
rs912983346
|
0.00001
|
|
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter)
|
rs370777371
|
0.00001
|
|
NM_003119.4(SPG7):c.759-2A>G
|
rs770299071
|
0.00001
|
|
NM_003119.4(SPG7):c.861+1G>C
|
rs1412575396
|
0.00001
|
|
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val)
|
rs121918638
|
0.00001
|
|
NM_003126.4(SPTA1):c.178C>T (p.Arg60Ter)
|
rs373695294
|
0.00001
|
|
NM_003126.4(SPTA1):c.1833+1G>A
|
rs1035389616
|
0.00001
|
|
NM_003126.4(SPTA1):c.2806-13T>G
|
rs757147440
|
0.00001
|
|
NM_003126.4(SPTA1):c.3667C>T (p.Arg1223Ter)
|
rs773675787
|
0.00001
|
|
NM_003126.4(SPTA1):c.4339-2A>C
|
rs368931075
|
0.00001
|
|
NM_003126.4(SPTA1):c.802C>T (p.Arg268Ter)
|
rs764157190
|
0.00001
|
|
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys)
|
rs121918642
|
0.00001
|
|
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)
|
rs782024654
|
0.00001
|
|
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter)
|
rs1187982748
|
0.00001
|
|
NM_003201.3(TFAM):c.533C>T (p.Pro178Leu)
|
rs757075712
|
0.00001
|
|
NM_003227.4(TFR2):c.1288G>A (p.Gly430Arg)
|
rs780902940
|
0.00001
|
|
NM_003235.5(TG):c.5992C>T (p.Arg1998Ter)
|
rs777075341
|
0.00001
|
|
NM_003235.5(TG):c.638+5G>A
|
rs774274702
|
0.00001
|
|
NM_003235.5(TG):c.6725G>A (p.Arg2242His)
|
rs2069566
|
0.00001
|
|
NM_003235.5(TG):c.85C>T (p.Gln29Ter)
|
rs1554648860
|
0.00001
|
|
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His)
|
rs751948498
|
0.00001
|
|
NM_003242.6(TGFBR2):c.95-2A>G
|
rs779131465
|
0.00001
|
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
|
NM_003283.6(TNNT1):c.309+1G>A
|
rs149559898
|
0.00001
|
|
NM_003285.3(TNR):c.3574C>T (p.Arg1192Trp)
|
rs1571308125
|
0.00001
|
|
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)
|
rs104894129
|
0.00001
|
|
NM_003322.6(TULP1):c.1246C>T (p.Arg416Cys)
|
rs200769197
|
0.00001
|
|
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)
|
rs527236117
|
0.00001
|
|
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)
|
rs373519519
|
0.00001
|
|
NM_003332.4(TYROBP):c.141del (p.Met48fs)
|
rs386833840
|
0.00001
|
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
|
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter)
|
rs184887106
|
0.00001
|
|
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs)
|
rs892468166
|
0.00001
|
|
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)
|
rs772263867
|
0.00001
|
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
|
NM_003384.3(VRK1):c.6del (p.Arg3fs)
|
rs780789145
|
0.00001
|
|
NM_003394.4(WNT10B):c.676C>T (p.Arg226Ter)
|
rs763991433
|
0.00001
|
|
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter)
|
rs902082118
|
0.00001
|
|
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)
|
rs1135402725
|
0.00001
|
|
NM_003477.3(PDHX):c.419_420del (p.His140fs)
|
rs756985515
|
0.00001
|
|
NM_003551.3(NME5):c.572G>A (p.Trp191Ter)
|
rs182049871
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)
|
rs368497893
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn)
|
rs778225931
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1427+1G>A
|
rs750939090
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln)
|
rs587784330
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)
|
rs587784332
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1592-2A>C
|
rs1465629909
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His)
|
rs535486098
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys)
|
rs753874848
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu)
|
rs769047790
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp)
|
rs1043378899
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp)
|
rs368008077
|
0.00001
|
|
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter)
|
rs1484455290
|
0.00001
|
|
NM_003560.4(PLA2G6):c.2035-2A>G
|
rs1602057157
|
0.00001
|
|
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)
|
rs587784347
|
0.00001
|
|
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr)
|
rs121908685
|
0.00001
|
|
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu)
|
rs121908682
|
0.00001
|
|
NM_003630.3(PEX3):c.288-1G>A
|
rs752904598
|
0.00001
|
|
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg)
|
rs1057523689
|
0.00001
|
|
NM_003632.3(CNTNAP1):c.967T>C (p.Cys323Arg)
|
rs768554986
|
0.00001
|
|
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)
|
rs761911009
|
0.00001
|
|
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter)
|
rs1291760879
|
0.00001
|
|
NM_003640.5(ELP1):c.3424C>T (p.Arg1142Ter)
|
rs768015419
|
0.00001
|
|
NM_003640.5(ELP1):c.737G>A (p.Trp246Ter)
|
rs1317221906
|
0.00001
|
|
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
|
rs370293290
|
0.00001
|
|
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
|
rs776590274
|
0.00001
|
|
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter)
|
rs141019458
|
0.00001
|
|
NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp)
|
rs1280845604
|
0.00001
|
|
NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter)
|
rs932183417
|
0.00001
|
|
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter)
|
rs778357787
|
0.00001
|
|
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs)
|
rs753338285
|
0.00001
|
|
NM_003722.5(TP63):c.728G>A (p.Arg243Gln)
|
rs121908836
|
0.00001
|
|
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)
|
rs752043324
|
0.00001
|
|
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)
|
rs760750012
|
0.00001
|
|
NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)
|
rs1371940395
|
0.00001
|
|
NM_003742.4(ABCB11):c.2343+1G>T
|
rs774411820
|
0.00001
|
|
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)
|
rs772294884
|
0.00001
|
|
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)
|
rs1559183717
|
0.00001
|
|
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His)
|
rs756220860
|
0.00001
|
|
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His)
|
rs748862206
|
0.00001
|
|
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys)
|
rs752992432
|
0.00001
|
|
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr)
|
rs139641883
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.139C>T (p.Arg47Ter)
|
rs756807746
|
0.00001
|
|
NM_003764.4(STX11):c.391C>T (p.Gln131Ter)
|
rs794729649
|
0.00001
|
|
NM_003764.4(STX11):c.484C>T (p.Gln162Ter)
|
rs1292608555
|
0.00001
|
|
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser)
|
rs782220208
|
0.00001
|
|
NM_003801.4(GPAA1):c.619del (p.Met207fs)
|
rs782615259
|
0.00001
|
|
NM_003846.3(PEX11B):c.1A>G (p.Met1Val)
|
rs782262926
|
0.00001
|
|
NM_003846.3(PEX11B):c.2T>G (p.Met1Arg)
|
rs782342783
|
0.00001
|
|
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)
|
rs781984979
|
0.00001
|
|
NM_003850.3(SUCLA2):c.478C>T (p.Arg160Ter)
|
rs1950124035
|
0.00001
|
|
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val)
|
rs1011464708
|
0.00001
|
|
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu)
|
rs28936703
|
0.00001
|
|
NM_003896.4(ST3GAL5):c.147G>A (p.Trp49Ter)
|
rs778265926
|
0.00001
|
|
NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val)
|
rs545593935
|
0.00001
|
|
NM_003907.3(EIF2B5):c.1280C>T (p.Pro427Leu)
|
rs113994078
|
0.00001
|
|
NM_003907.3(EIF2B5):c.1360C>T (p.Pro454Ser)
|
rs766921114
|
0.00001
|
|
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr)
|
rs1064794256
|
0.00001
|
|
NM_003907.3(EIF2B5):c.337C>T (p.Arg113Cys)
|
rs113994050
|
0.00001
|
|
NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met)
|
rs113994053
|
0.00001
|
|
NM_003907.3(EIF2B5):c.583C>T (p.Arg195Cys)
|
rs113994055
|
0.00001
|
|
NM_003907.3(EIF2B5):c.896G>A (p.Arg299His)
|
rs113994060
|
0.00001
|
|
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)
|
rs200143780
|
0.00001
|
|
NM_003907.3(EIF2B5):c.915G>A (p.Met305Ile)
|
rs1431803321
|
0.00001
|
|
NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter)
|
rs1376336723
|
0.00001
|
|
NM_003922.4(HERC1):c.9742C>T (p.Arg3248Ter)
|
rs554917974
|
0.00001
|
|
NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp)
|
rs147475752
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)
|
rs386833798
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)
|
rs752263234
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)
|
rs1355745932
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1387del (p.Val463fs)
|
rs386833806
|
0.00001
|
|
NM_003982.4(SLC7A7):c.161G>T (p.Gly54Val)
|
rs121908677
|
0.00001
|
|
NM_003982.4(SLC7A7):c.2T>C (p.Met1Thr)
|
rs1261517099
|
0.00001
|
|
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)
|
rs386833818
|
0.00001
|
|
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter)
|
rs1057519324
|
0.00001
|
|
NM_003995.4(NPR2):c.1813C>T (p.Gln605Ter)
|
rs969576919
|
0.00001
|
|
NM_004004.6(GJB2):c.128T>C (p.Val43Ala)
|
rs776267945
|
0.00001
|
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
|
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg)
|
rs1326514987
|
0.00001
|
|
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)
|
rs111033451
|
0.00001
|
|
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
|
rs28931593
|
0.00001
|
|
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)
|
rs111033361
|
0.00001
|
|
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)
|
rs727504302
|
0.00001
|
|
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)
|
rs781534323
|
0.00001
|
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
|
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)
|
rs397516873
|
0.00001
|
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
|
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)
|
rs786204690
|
0.00001
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
0.00001
|
|
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)
|
rs770330002
|
0.00001
|
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
|
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)
|
rs786204597
|
0.00001
|
|
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)
|
rs749693224
|
0.00001
|
|
NM_004004.6(GJB2):c.98T>C (p.Ile33Thr)
|
rs575453513
|
0.00001
|
|
NM_004035.7(ACOX1):c.538+1G>A
|
rs1466419887
|
0.00001
|
|
NM_004069.6(AP2S1):c.44G>A (p.Arg15His)
|
rs397514499
|
0.00001
|
|
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg)
|
rs1203386884
|
0.00001
|
|
NM_004086.3(COCH):c.292C>T (p.Arg98Ter)
|
rs756790858
|
0.00001
|
|
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys)
|
rs758723288
|
0.00001
|
|
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser)
|
rs201865375
|
0.00001
|
|
NM_004092.4(ECHS1):c.202G>A (p.Glu68Lys)
|
rs1276839756
|
0.00001
|
|
NM_004092.4(ECHS1):c.88+5G>A
|
rs761464256
|
0.00001
|
|
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)
|
rs727502869
|
0.00001
|
|
NM_004168.4(SDHA):c.1338del (p.His447fs)
|
rs1735791499
|
0.00001
|
|
NM_004168.4(SDHA):c.1352G>A (p.Arg451His)
|
rs370690436
|
0.00001
|
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
|
NM_004168.4(SDHA):c.923C>T (p.Thr308Met)
|
rs1457666982
|
0.00001
|
|
NM_004174.4(SLC9A3):c.1039G>A (p.Glu347Lys)
|
rs766583286
|
0.00001
|
|
NM_004174.4(SLC9A3):c.805G>A (p.Ala269Thr)
|
rs869312807
|
0.00001
|
|
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys)
|
rs886041142
|
0.00001
|
|
NM_004183.4(BEST1):c.1444del (p.Glu482fs)
|
rs759410076
|
0.00001
|
|
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu)
|
rs980876322
|
0.00001
|
|
NM_004183.4(BEST1):c.38G>A (p.Arg13His)
|
rs281865209
|
0.00001
|
|
NM_004183.4(BEST1):c.400C>G (p.Leu134Val)
|
rs753614067
|
0.00001
|
|
NM_004183.4(BEST1):c.653G>A (p.Arg218His)
|
rs281865239
|
0.00001
|
|
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)
|
rs267606676
|
0.00001
|
|
NM_004183.4(BEST1):c.72G>A (p.Trp24Ter)
|
rs281865213
|
0.00001
|
|
NM_004183.4(BEST1):c.883A>G (p.Ile295Val)
|
rs777320382
|
0.00001
|
|
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg)
|
rs281865218
|
0.00001
|
|
NM_004183.4(BEST1):c.932T>G (p.Val311Gly)
|
rs1941820458
|
0.00001
|
|
NM_004183.4(BEST1):c.934G>A (p.Asp312Asn)
|
rs281865277
|
0.00001
|
|
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)
|
rs724160021
|
0.00001
|
|
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser)
|
rs772652517
|
0.00001
|
|
NM_004211.5(SLC6A5):c.2070+1G>A
|
rs770660705
|
0.00001
|
|
NM_004239.4(TRIP11):c.202-2A>G
|
rs863223281
|
0.00001
|
|
NM_004249.4(RAB28):c.651T>G (p.Cys217Trp)
|
rs751163782
|
0.00001
|
|
NM_004260.4(RECQL4):c.3056-2A>C
|
rs786200889
|
0.00001
|
|
NM_004268.5(MED17):c.1360C>T (p.Arg454Ter)
|
rs776884086
|
0.00001
|
|
NM_004269.4(MED27):c.871G>A (p.Gly291Ser)
|
rs774276967
|
0.00001
|
|
NM_004273.5(CHST3):c.661C>T (p.Arg221Cys)
|
rs746848315
|
0.00001
|
|
NM_004278.4(PIGL):c.701G>A (p.Arg234His)
|
rs967814478
|
0.00001
|
|
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)
|
rs387906875
|
0.00001
|
|
NM_004287.5(GOSR2):c.1A>G (p.Met1Val)
|
rs879328855
|
0.00001
|
|
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)
|
rs868064163
|
0.00001
|
|
NM_004318.4(ASPH):c.2127-2del
|
rs1200332180
|
0.00001
|
|
NM_004320.6(ATP2A1):c.1184+1G>A
|
rs551660089
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2366C>T (p.Pro789Leu)
|
rs121918115
|
0.00001
|
|
NM_004320.6(ATP2A1):c.2774dup (p.Met925fs)
|
rs398124555
|
0.00001
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
0.00001
|
|
NM_004360.5(CDH1):c.1137+1G>A
|
rs876660771
|
0.00001
|
|
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)
|
rs201330912
|
0.00001
|
|
NM_004366.6(CLCN2):c.1828C>T (p.Arg610Ter)
|
rs762516598
|
0.00001
|
|
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)
|
rs771941724
|
0.00001
|
|
NM_004371.4(COPA):c.698G>A (p.Arg233His)
|
rs794727993
|
0.00001
|
|
NM_004415.4(DSP):c.2436+2T>C
|
rs774514264
|
0.00001
|
|
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)
|
rs767643821
|
0.00001
|
|
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter)
|
rs778178956
|
0.00001
|
|
NM_004415.4(DSP):c.4518del (p.Arg1506fs)
|
rs1289037294
|
0.00001
|
|
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)
|
rs1561703331
|
0.00001
|
|
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)
|
rs1464253797
|
0.00001
|
|
NM_004415.4(DSP):c.939+1G>A
|
rs727504443
|
0.00001
|
|
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp)
|
rs764827256
|
0.00001
|
|
NM_004444.5(EPHB4):c.2718C>G (p.Tyr906Ter)
|
rs370570826
|
0.00001
|
|
NM_004446.3(EPRS1):c.3344C>G (p.Pro1115Arg)
|
rs1288116010
|
0.00001
|
|
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)
|
rs779253471
|
0.00001
|
|
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg)
|
rs1156517377
|
0.00001
|
|
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)
|
rs200920510
|
0.00001
|
|
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys)
|
rs1279728239
|
0.00001
|
|
NM_004453.4(ETFDH):c.1690+2T>G
|
rs767238539
|
0.00001
|
|
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)
|
rs1172887273
|
0.00001
|
|
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)
|
rs779896449
|
0.00001
|
|
NM_004453.4(ETFDH):c.524G>A (p.Arg175His)
|
rs121964955
|
0.00001
|
|
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
|
rs755214552
|
0.00001
|
|
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)
|
rs748289922
|
0.00001
|
|
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr)
|
rs141407224
|
0.00001
|
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
|
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)
|
rs763541530
|
0.00001
|
|
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)
|
rs1235904433
|
0.00001
|
|
NM_004483.5(GCSH):c.1A>G (p.Met1Val)
|
rs886039730
|
0.00001
|
|
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His)
|
rs1204519015
|
0.00001
|
|
NM_004525.3(LRP2):c.10660C>T (p.Arg3554Ter)
|
rs768458485
|
0.00001
|
|
NM_004525.3(LRP2):c.2639+1G>A
|
rs746752313
|
0.00001
|
|
NM_004525.3(LRP2):c.3667+1G>A
|
rs752197557
|
0.00001
|
|
NM_004525.3(LRP2):c.6283C>T (p.Arg2095Ter)
|
rs753549113
|
0.00001
|
|
NM_004525.3(LRP2):c.9706C>T (p.Arg3236Ter)
|
rs1310470715
|
0.00001
|
|
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg)
|
rs780085174
|
0.00001
|
|
NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr)
|
rs121908609
|
0.00001
|
|
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)
|
rs770931044
|
0.00001
|
|
NM_004544.4(NDUFA10):c.1A>G (p.Met1Val)
|
rs387906872
|
0.00001
|
|
NM_004553.6(NDUFS6):c.309+5G>A
|
rs763535523
|
0.00001
|
|
NM_004553.6(NDUFS6):c.32_33dup (p.Asn12Ter)
|
rs769666581
|
0.00001
|
|
NM_004562.3(PRKN):c.1A>G (p.Met1Val)
|
rs772786691
|
0.00001
|
|
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)
|
rs760079636
|
0.00001
|
|
NM_004614.5(TK2):c.173A>G (p.Asn58Ser)
|
rs138439950
|
0.00001
|
|
NM_004614.5(TK2):c.310C>T (p.Arg104Cys)
|
rs1194187379
|
0.00001
|
|
NM_004614.5(TK2):c.389G>A (p.Arg130Gln)
|
rs281865492
|
0.00001
|
|
NM_004614.5(TK2):c.441del (p.Tyr148fs)
|
rs768548319
|
0.00001
|
|
NM_004618.5(TOP3A):c.1012C>T (p.Arg338Ter)
|
rs763986208
|
0.00001
|
|
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln)
|
rs1451194842
|
0.00001
|
|
NM_004628.5(XPC):c.1A>G (p.Met1Val)
|
rs763678756
|
0.00001
|
|
NM_004628.5(XPC):c.362del (p.Asp121fs)
|
rs753506183
|
0.00001
|
|
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter)
|
rs149721361
|
0.00001
|
|
NM_004629.2(FANCG):c.85-2A>T
|
rs759590778
|
0.00001
|
|
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)
|
rs386833863
|
0.00001
|
|
NM_004646.4(NPHS1):c.105G>A (p.Trp35Ter)
|
rs1450477596
|
0.00001
|
|
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg)
|
rs386833864
|
0.00001
|
|
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)
|
rs386833865
|
0.00001
|
|
NM_004646.4(NPHS1):c.1481del (p.Ser494fs)
|
rs386833883
|
0.00001
|
|
NM_004646.4(NPHS1):c.1531C>T (p.Arg511Ter)
|
rs138852882
|
0.00001
|
|
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)
|
rs386833884
|
0.00001
|
|
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter)
|
rs386833899
|
0.00001
|
|
NM_004646.4(NPHS1):c.2071+2T>C
|
rs386833901
|
0.00001
|
|
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)
|
rs764181464
|
0.00001
|
|
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)
|
rs386833912
|
0.00001
|
|
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)
|
rs386833920
|
0.00001
|
|
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)
|
rs267606919
|
0.00001
|
|
NM_004646.4(NPHS1):c.3595-2A>G
|
rs386833940
|
0.00001
|
|
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter)
|
rs386833951
|
0.00001
|
|
NM_004646.4(NPHS1):c.534del (p.Thr179fs)
|
rs386833952
|
0.00001
|
|
NM_004646.4(NPHS1):c.692C>A (p.Ser231Ter)
|
rs386833958
|
0.00001
|
|
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs)
|
rs1599845714
|
0.00001
|
|
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)
|
rs386833961
|
0.00001
|
|
NM_004655.4(AXIN2):c.815+1G>A
|
rs781384784
|
0.00001
|
|
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)
|
rs1271250198
|
0.00001
|
|
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)
|
rs28939710
|
0.00001
|
|
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter)
|
rs1562912305
|
0.00001
|
|
NM_004722.4(AP4M1):c.1137+1G>T
|
rs770705832
|
0.00001
|
|
NM_004722.4(AP4M1):c.1317G>A (p.Trp439Ter)
|
rs772119268
|
0.00001
|
|
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)
|
rs886041126
|
0.00001
|
|
NM_004722.4(AP4M1):c.142del (p.Val48fs)
|
rs764326593
|
0.00001
|
|
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)
|
rs754498075
|
0.00001
|
|
NM_004771.4(MMP20):c.625G>C (p.Glu209Gln)
|
rs199788797
|
0.00001
|
|
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr)
|
rs886041240
|
0.00001
|
|
NM_004795.4(KL):c.578A>G (p.His193Arg)
|
rs121908423
|
0.00001
|
|
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)
|
rs121908610
|
0.00001
|
|
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys)
|
rs367916692
|
0.00001
|
|
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
|
NM_004826.4(ECEL1):c.1252C>T (p.Arg418Cys)
|
rs587776919
|
0.00001
|
|
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr)
|
rs606231471
|
0.00001
|
|
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)
|
rs769471341
|
0.00001
|
|
NM_004855.5(PIGB):c.212G>A (p.Arg71Gln)
|
rs369838467
|
0.00001
|
|
NM_004863.4(SPTLC2):c.1075G>A (p.Val359Met)
|
rs267607090
|
0.00001
|
|
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp)
|
rs775437084
|
0.00001
|
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
|
NM_004937.3(CTNS):c.841dup (p.Tyr281fs)
|
rs1411094034
|
0.00001
|
|
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)
|
rs746307931
|
0.00001
|
|
NM_004946.3(DOCK2):c.3310C>T (p.Arg1104Trp)
|
rs780318765
|
0.00001
|
|
NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys)
|
rs1832458239
|
0.00001
|
|
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser)
|
rs1984257387
|
0.00001
|
|
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)
|
rs1012819766
|
0.00001
|
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
|
NM_004999.4(MYO6):c.1159C>T (p.Arg387Ter)
|
rs766700803
|
0.00001
|
|
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)
|
rs727504567
|
0.00001
|
|
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp)
|
rs876657911
|
0.00001
|
|
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)
|
rs727503326
|
0.00001
|
|
NM_005002.5(NDUFA9):c.1061G>A (p.Arg354Gln)
|
rs764064779
|
0.00001
|
|
NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys)
|
rs3210083
|
0.00001
|
|
NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys)
|
rs149271416
|
0.00001
|
|
NM_005006.7(NDUFS1):c.1298_1325del (p.Gly433fs)
|
rs750285313
|
0.00001
|
|
NM_005026.5(PIK3CD):c.419G>A (p.Arg140His)
|
rs1647336657
|
0.00001
|
|
NM_005033.3(EXOSC9):c.329dup (p.Arg111fs)
|
rs754121759
|
0.00001
|
|
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp)
|
rs587777332
|
0.00001
|
|
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp)
|
rs587777334
|
0.00001
|
|
NM_005051.3(QARS1):c.477G>A (p.Trp159Ter)
|
rs776344968
|
0.00001
|
|
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)
|
rs368695664
|
0.00001
|
|
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)
|
rs121909255
|
0.00001
|
|
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)
|
rs761584017
|
0.00001
|
|
NM_005055.5(RAPSN):c.531+1G>T
|
rs1421354085
|
0.00001
|
|
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)
|
rs559933584
|
0.00001
|
|
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp)
|
rs770344400
|
0.00001
|
|
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp)
|
rs119488099
|
0.00001
|
|
NM_005121.3(MED13):c.5683_5684del (p.Met1895fs)
|
rs750570850
|
0.00001
|
|
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
|
rs759452074
|
0.00001
|
|
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)
|
rs121912676
|
0.00001
|
|
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)
|
rs193922680
|
0.00001
|
|
NM_005188.4(CBL):c.1111T>C (p.Tyr371His)
|
rs267606706
|
0.00001
|
|
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)
|
rs267606708
|
0.00001
|
|
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter)
|
rs121912671
|
0.00001
|
|
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)
|
rs777219451
|
0.00001
|
|
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)
|
rs121912670
|
0.00001
|
|
NM_005208.5(CRYBA1):c.215+1G>A
|
rs1264025914
|
0.00001
|
|
NM_005214.5(CTLA4):c.223C>T (p.Arg75Trp)
|
rs1688714312
|
0.00001
|
|
NM_005216.5(DDOST):c.645G>C (p.Gln215His)
|
rs867045420
|
0.00001
|
|
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp)
|
rs281860303
|
0.00001
|
|
NM_005264.8(GFRA1):c.676C>T (p.Arg226Ter)
|
rs191814086
|
0.00001
|
|
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser)
|
rs864309688
|
0.00001
|
|
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)
|
rs1424516740
|
0.00001
|
|
NM_005340.7(HINT1):c.188T>A (p.Ile63Asn)
|
rs1048322333
|
0.00001
|
|
NM_005340.7(HINT1):c.355C>T (p.Arg119Trp)
|
rs768248277
|
0.00001
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
0.00001
|
|
NM_005422.4(TECTA):c.2719C>T (p.Arg907Ter)
|
rs764424917
|
0.00001
|
|
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)
|
rs121909059
|
0.00001
|
|
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)
|
rs140236996
|
0.00001
|
|
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys)
|
rs1455568421
|
0.00001
|
|
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser)
|
rs1057516798
|
0.00001
|
|
NM_005476.7(GNE):c.1525C>T (p.His509Tyr)
|
rs754892377
|
0.00001
|
|
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser)
|
rs966918577
|
0.00001
|
|
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)
|
rs762009737
|
0.00001
|
|
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)
|
rs745517517
|
0.00001
|
|
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)
|
rs886044514
|
0.00001
|
|
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)
|
rs539332585
|
0.00001
|
|
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)
|
rs786204476
|
0.00001
|
|
NM_005476.7(GNE):c.722T>G (p.Ile241Ser)
|
rs759945787
|
0.00001
|
|
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)
|
rs773729410
|
0.00001
|
|
NM_005502.4(ABCA1):c.2819C>T (p.Thr940Met)
|
rs1832453675
|
0.00001
|
|
NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg)
|
rs137854494
|
0.00001
|
|
NM_005506.4(SCARB2):c.1187+2dup
|
rs727502783
|
0.00001
|
|
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His)
|
rs137852639
|
0.00001
|
|
NM_005518.4(HMGCS2):c.160G>A (p.Val54Met)
|
rs28937320
|
0.00001
|
|
NM_005529.7(HSPG2):c.11208-7G>A
|
rs1336552092
|
0.00001
|
|
NM_005529.7(HSPG2):c.1120C>T (p.Arg374Ter)
|
rs759220039
|
0.00001
|
|
NM_005529.7(HSPG2):c.12922C>T (p.Gln4308Ter)
|
rs2097958823
|
0.00001
|
|
NM_005529.7(HSPG2):c.253C>T (p.Arg85Ter)
|
rs747493127
|
0.00001
|
|
NM_005529.7(HSPG2):c.8017C>T (p.Arg2673Ter)
|
rs745338204
|
0.00001
|
|
NM_005529.7(HSPG2):c.9109C>T (p.Gln3037Ter)
|
rs898553156
|
0.00001
|
|
NM_005534.4(IFNGR2):c.1A>G (p.Met1Val)
|
rs1316638883
|
0.00001
|
|
NM_005546.4(ITK):c.1684C>T (p.Arg562Ter)
|
rs1207540324
|
0.00001
|
|
NM_005546.4(ITK):c.86G>A (p.Arg29His)
|
rs397514261
|
0.00001
|
|
NM_005548.3(KARS1):c.1688A>T (p.Asn563Ile)
|
rs746483110
|
0.00001
|
|
NM_005559.4(LAMA1):c.1034del (p.Gln345fs)
|
rs1373970320
|
0.00001
|
|
NM_005559.4(LAMA1):c.184C>T (p.Arg62Ter)
|
rs758223206
|
0.00001
|
|
NM_005559.4(LAMA1):c.3099G>A (p.Trp1033Ter)
|
rs769655038
|
0.00001
|
|
NM_005559.4(LAMA1):c.7180C>T (p.Arg2394Ter)
|
rs542213899
|
0.00001
|
|
NM_005559.4(LAMA1):c.8556+1G>A
|
rs764745270
|
0.00001
|
|
NM_005562.3(LAMC2):c.1009C>T (p.Arg337Ter)
|
rs761475328
|
0.00001
|
|
NM_005591.4(MRE11):c.1096C>T (p.Arg366Ter)
|
rs372411821
|
0.00001
|
|
NM_005591.4(MRE11):c.1603G>T (p.Glu535Ter)
|
rs1440482403
|
0.00001
|
|
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs)
|
rs876660186
|
0.00001
|
|
NM_005591.4(MRE11):c.170T>G (p.Leu57Ter)
|
rs951805101
|
0.00001
|
|
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)
|
rs137852760
|
0.00001
|
|
NM_005591.4(MRE11):c.504_511del (p.Leu169fs)
|
rs786202253
|
0.00001
|
|
NM_005591.4(MRE11):c.659+1G>A
|
rs759130031
|
0.00001
|
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
|
NM_005609.4(PYGM):c.1239+1G>A
|
rs759657964
|
0.00001
|
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
|
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
|
rs765612286
|
0.00001
|
|
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln)
|
rs1592410540
|
0.00001
|
|
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)
|
rs397514631
|
0.00001
|
|
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)
|
rs119103252
|
0.00001
|
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
|
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)
|
rs143550601
|
0.00001
|
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
|
NM_005609.4(PYGM):c.1768+2T>G
|
rs747513238
|
0.00001
|
|
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)
|
rs750195683
|
0.00001
|
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
|
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)
|
rs119103256
|
0.00001
|
|
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)
|
rs1483102315
|
0.00001
|
|
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)
|
rs776680924
|
0.00001
|
|
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg)
|
rs760654579
|
0.00001
|
|
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)
|
rs1223885403
|
0.00001
|
|
NM_005609.4(PYGM):c.661-601G>A
|
rs1474863903
|
0.00001
|
|
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)
|
rs755117847
|
0.00001
|
|
NM_005618.4(DLL1):c.2044_2045del (p.Arg682fs)
|
rs1783602877
|
0.00001
|
|
NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter)
|
rs776813259
|
0.00001
|
|
NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp)
|
rs137852814
|
0.00001
|
|
NM_005670.4(EPM2A):c.302-1G>C
|
rs369463720
|
0.00001
|
|
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)
|
rs137852915
|
0.00001
|
|
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)
|
rs137852916
|
0.00001
|
|
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)
|
rs104893955
|
0.00001
|
|
NM_005677.4(COLQ):c.1281C>T (p.Cys427=)
|
rs185829251
|
0.00001
|
|
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)
|
rs763036328
|
0.00001
|
|
NM_005677.4(COLQ):c.57dup (p.Ile20fs)
|
rs777102590
|
0.00001
|
|
NM_005677.4(COLQ):c.954+1G>A
|
rs757060689
|
0.00001
|
|
NM_005720.4(ARPC1B):c.899_944del (p.Glu300fs)
|
rs1794611030
|
0.00001
|
|
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter)
|
rs1247689593
|
0.00001
|
|
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)
|
rs373428259
|
0.00001
|
|
NM_005732.4(RAD50):c.1636-2A>G
|
rs1554098466
|
0.00001
|
|
NM_005732.4(RAD50):c.1794-1G>A
|
rs587781742
|
0.00001
|
|
NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter)
|
rs750586158
|
0.00001
|
|
NM_005732.4(RAD50):c.552-1G>A
|
rs1236278956
|
0.00001
|
|
NM_005732.4(RAD50):c.756+2T>C
|
rs764122619
|
0.00001
|
|
NM_005732.4(RAD50):c.94dup (p.Thr32fs)
|
rs587781625
|
0.00001
|
|
NM_005739.4(RASGRP1):c.327-1C>G
|
rs772305736
|
0.00001
|
|
NM_005787.6(ALG3):c.1061G>A (p.Arg354His)
|
rs546890576
|
0.00001
|
|
NM_005787.6(ALG3):c.165C>T (p.Gly55=)
|
rs387906273
|
0.00001
|
|
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg)
|
rs367679074
|
0.00001
|
|
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter)
|
rs1406678014
|
0.00001
|
|
NM_005857.5(ZMPSTE24):c.1019G>A (p.Trp340Ter)
|
rs1402953071
|
0.00001
|
|
NM_005861.4(STUB1):c.823_824del (p.Leu275fs)
|
rs748984540
|
0.00001
|
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
0.00001
|
|
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)
|
rs863223746
|
0.00001
|
|
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)
|
rs1343295267
|
0.00001
|
|
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys)
|
rs1085307496
|
0.00001
|
|
NM_005908.4(MANBA):c.1434del (p.Lys479fs)
|
rs776601022
|
0.00001
|
|
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)
|
rs771865668
|
0.00001
|
|
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter)
|
rs780068572
|
0.00001
|
|
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter)
|
rs1553948361
|
0.00001
|
|
NM_005908.4(MANBA):c.960+1G>A
|
rs890870104
|
0.00001
|
|
NM_005912.3(MC4R):c.171del (p.Ser58fs)
|
rs746241281
|
0.00001
|
|
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)
|
rs370479598
|
0.00001
|
|
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)
|
rs369841551
|
0.00001
|
|
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp)
|
rs13447332
|
0.00001
|
|
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln)
|
rs747681609
|
0.00001
|
|
NM_005912.3(MC4R):c.779C>A (p.Pro260Gln)
|
rs1435358988
|
0.00001
|
|
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser)
|
rs121913561
|
0.00001
|
|
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)
|
rs368321176
|
0.00001
|
|
NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys)
|
rs759031330
|
0.00001
|
|
NM_005957.5(MTHFR):c.1069C>T (p.Arg357Cys)
|
rs779993607
|
0.00001
|
|
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His)
|
rs977038830
|
0.00001
|
|
NM_005957.5(MTHFR):c.1748G>A (p.Trp583Ter)
|
rs1314085200
|
0.00001
|
|
NM_005957.5(MTHFR):c.1753-18G>A
|
rs777661576
|
0.00001
|
|
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)
|
rs763539350
|
0.00001
|
|
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr)
|
rs769381688
|
0.00001
|
|
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)
|
rs1057519360
|
0.00001
|
|
NM_005957.5(MTHFR):c.584C>T (p.Ala195Val)
|
rs760161369
|
0.00001
|
|
NM_005957.5(MTHFR):c.780+1G>A
|
rs786204020
|
0.00001
|
|
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro)
|
rs121434297
|
0.00001
|
|
NM_005957.5(MTHFR):c.971A>G (p.Asn324Ser)
|
rs267606887
|
0.00001
|
|
NM_005989.4(AKR1D1):c.148C>T (p.Arg50Ter)
|
rs749224036
|
0.00001
|
|
NM_005993.5(TBCD):c.1423G>A (p.Ala475Thr)
|
rs775014444
|
0.00001
|
|
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys)
|
rs181969865
|
0.00001
|
|
NM_005993.5(TBCD):c.337C>T (p.Arg113Ter)
|
rs750717767
|
0.00001
|
|
NM_005993.5(TBCD):c.967C>T (p.Arg323Ter)
|
rs773790897
|
0.00001
|
|
NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr)
|
rs368743618
|
0.00001
|
|
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)
|
rs773900146
|
0.00001
|
|
NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile)
|
rs781575919
|
0.00001
|
|
NM_006005.3(WFS1):c.1433G>A (p.Trp478Ter)
|
rs377726402
|
0.00001
|
|
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)
|
rs771409809
|
0.00001
|
|
NM_006005.3(WFS1):c.2059C>T (p.Gln687Ter)
|
rs773554624
|
0.00001
|
|
NM_006005.3(WFS1):c.2416G>C (p.Ala806Pro)
|
rs762075088
|
0.00001
|
|
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)
|
rs145639028
|
0.00001
|
|
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys)
|
rs567563179
|
0.00001
|
|
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis)
|
rs777497868
|
0.00001
|
|
NM_006017.3(PROM1):c.2130+2del
|
rs768303070
|
0.00001
|
|
NM_006019.4(TCIRG1):c.-5+1G>T
|
rs917505107
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter)
|
rs777785526
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)
|
rs200851583
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1887+1G>A
|
rs1554999205
|
0.00001
|
|
NM_006019.4(TCIRG1):c.196+5G>A
|
rs1470999303
|
0.00001
|
|
NM_006019.4(TCIRG1):c.2014-1G>A
|
rs1197237618
|
0.00001
|
|
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter)
|
rs1590817956
|
0.00001
|
|
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter)
|
rs1338631330
|
0.00001
|
|
NM_006019.4(TCIRG1):c.630G>A (p.Thr210=)
|
rs1293760338
|
0.00001
|
|
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs)
|
rs1565156743
|
0.00001
|
|
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)
|
rs749361897
|
0.00001
|
|
NM_006031.6(PCNT):c.3465-1G>A
|
rs755084205
|
0.00001
|
|
NM_006031.6(PCNT):c.5188C>T (p.Arg1730Ter)
|
rs755987047
|
0.00001
|
|
NM_006031.6(PCNT):c.5395A>T (p.Lys1799Ter)
|
rs199566483
|
0.00001
|
|
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter)
|
rs119479062
|
0.00001
|
|
NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs)
|
rs778391726
|
0.00001
|
|
NM_006031.6(PCNT):c.8868dup (p.Ala2957fs)
|
rs587784320
|
0.00001
|
|
NM_006070.6(TFG):c.317G>A (p.Arg106His)
|
rs376971794
|
0.00001
|
|
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter)
|
rs1198103383
|
0.00001
|
|
NM_006118.4(HAX1):c.337G>T (p.Glu113Ter)
|
rs374758765
|
0.00001
|
|
NM_006118.4(HAX1):c.407del (p.His136fs)
|
rs748595772
|
0.00001
|
|
NM_006118.4(HAX1):c.663+1G>A
|
rs41313932
|
0.00001
|
|
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg)
|
rs318240762
|
0.00001
|
|
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln)
|
rs121434229
|
0.00001
|
|
NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu)
|
rs587777882
|
0.00001
|
|
NM_006204.4(PDE6C):c.1004+1G>A
|
rs958171434
|
0.00001
|
|
NM_006204.4(PDE6C):c.1669C>T (p.Arg557Ter)
|
rs781699886
|
0.00001
|
|
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter)
|
rs762426409
|
0.00001
|
|
NM_006204.4(PDE6C):c.939+2T>G
|
rs1328017393
|
0.00001
|
|
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)
|
rs373044722
|
0.00001
|
|
NM_006208.3(ENPP1):c.715+1G>C
|
rs1401078432
|
0.00001
|
|
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu)
|
rs754659608
|
0.00001
|
|
NM_006214.4(PHYH):c.135-1G>C
|
rs1057272016
|
0.00001
|
|
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser)
|
rs104894173
|
0.00001
|
|
NM_006214.4(PHYH):c.824G>A (p.Arg275Gln)
|
rs104894174
|
0.00001
|
|
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)
|
rs886042002
|
0.00001
|
|
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs)
|
rs1060500792
|
0.00001
|
|
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter)
|
rs139603739
|
0.00001
|
|
NM_006231.4(POLE):c.3677_3678del (p.Pro1226fs)
|
rs765645032
|
0.00001
|
|
NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter)
|
rs151278283
|
0.00001
|
|
NM_006231.4(POLE):c.5032C>T (p.Gln1678Ter)
|
rs1301816028
|
0.00001
|
|
NM_006231.4(POLE):c.5361del (p.Cys1788fs)
|
rs752558475
|
0.00001
|
|
NM_006231.4(POLE):c.5422C>T (p.Gln1808Ter)
|
rs1167794021
|
0.00001
|
|
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter)
|
rs1470483579
|
0.00001
|
|
NM_006231.4(POLE):c.6418del (p.Glu2140fs)
|
rs1064794703
|
0.00001
|
|
NM_006231.4(POLE):c.907C>T (p.Gln303Ter)
|
rs749117997
|
0.00001
|
|
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)
|
rs869312803
|
0.00001
|
|
NM_006261.5(PROP1):c.211C>T (p.Arg71Cys)
|
rs758285552
|
0.00001
|
|
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)
|
rs766673446
|
0.00001
|
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
|
NM_006269.2(RP1):c.4196del (p.Cys1399fs)
|
rs762951570
|
0.00001
|
|
NM_006269.2(RP1):c.788-2A>T
|
rs1422250479
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)
|
rs1201878175
|
0.00001
|
|
NM_006295.3(VARS1):c.3355C>T (p.Arg1119Cys)
|
rs149378938
|
0.00001
|
|
NM_006295.3(VARS1):c.3622C>T (p.Arg1208Ter)
|
rs776596987
|
0.00001
|
|
NM_006303.4(AIMP2):c.105C>A (p.Tyr35Ter)
|
rs529613640
|
0.00001
|
|
NM_006343.3(MERTK):c.1787-2A>T
|
rs978833430
|
0.00001
|
|
NM_006343.3(MERTK):c.2163T>A (p.His721Gln)
|
rs749472520
|
0.00001
|
|
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter)
|
rs148069173
|
0.00001
|
|
NM_006348.5(COG5):c.2231C>T (p.Pro744Leu)
|
rs1135401817
|
0.00001
|
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
|
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)
|
rs1568617456
|
0.00001
|
|
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val)
|
rs398124225
|
0.00001
|
|
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)
|
rs121918223
|
0.00001
|
|
NM_006363.6(SEC23B):c.2150del (p.Ala717fs)
|
rs1334741748
|
0.00001
|
|
NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter)
|
rs972668240
|
0.00001
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
0.00001
|
|
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)
|
rs397515480
|
0.00001
|
|
NM_006412.4(AGPAT2):c.493-1G>C
|
rs606231168
|
0.00001
|
|
NM_006412.4(AGPAT2):c.662-2A>C
|
rs1131691791
|
0.00001
|
|
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083
|
0.00001
|
|
NM_006424.3(SLC34A2):c.316G>C (p.Gly106Arg)
|
rs137853142
|
0.00001
|
|
NM_006432.5(NPC2):c.279dup (p.Lys94Ter)
|
rs1376058648
|
0.00001
|
|
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)
|
rs104894458
|
0.00001
|
|
NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter)
|
rs149010496
|
0.00001
|
|
NM_006439.5(MAB21L2):c.740G>A (p.Arg247Gln)
|
rs587777514
|
0.00001
|
|
NM_006493.4(CLN5):c.188G>A (p.Arg63His)
|
rs104894386
|
0.00001
|
|
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)
|
rs386833971
|
0.00001
|
|
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)
|
rs28940280
|
0.00001
|
|
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)
|
rs148862100
|
0.00001
|
|
NM_006494.4(ERF):c.652C>T (p.Arg218Ter)
|
rs1425504754
|
0.00001
|
|
NM_006502.3(POLH):c.490G>T (p.Glu164Ter)
|
rs767433001
|
0.00001
|
|
NM_006502.3(POLH):c.764+1G>A
|
rs772570523
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu)
|
rs1159593580
|
0.00001
|
|
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)
|
rs267607061
|
0.00001
|
|
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln)
|
rs80359815
|
0.00001
|
|
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val)
|
rs753161833
|
0.00001
|
|
NM_006567.5(FARS2):c.1156C>T (p.Arg386Ter)
|
rs770597592
|
0.00001
|
|
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val)
|
rs397514612
|
0.00001
|
|
NM_006567.5(FARS2):c.1255C>T (p.Arg419Cys)
|
rs775690041
|
0.00001
|
|
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr)
|
rs397514611
|
0.00001
|
|
NM_006580.4(CLDN16):c.206C>T (p.Ala69Val)
|
rs765256758
|
0.00001
|
|
NM_006580.4(CLDN16):c.437G>A (p.Arg146His)
|
rs772241737
|
0.00001
|
|
NM_006612.6(KIF1C):c.2005C>T (p.Arg669Ter)
|
rs1456471745
|
0.00001
|
|
NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu)
|
rs772475828
|
0.00001
|
|
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu)
|
rs370564476
|
0.00001
|
|
NM_006618.5(KDM5B):c.1321C>T (p.Arg441Ter)
|
rs527951173
|
0.00001
|
|
NM_006618.5(KDM5B):c.3139C>T (p.Arg1047Ter)
|
rs750775126
|
0.00001
|
|
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)
|
rs1558498928
|
0.00001
|
|
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)
|
rs769256568
|
0.00001
|
|
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met)
|
rs121907988
|
0.00001
|
|
NM_006623.4(PHGDH):c.357-1G>A
|
rs766427173
|
0.00001
|
|
NM_006623.4(PHGDH):c.889G>T (p.Glu297Ter)
|
rs1489498331
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)
|
rs964673995
|
0.00001
|
|
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)
|
rs730882140
|
0.00001
|
|
NM_006736.6(DNAJB2):c.175+2T>A
|
rs562669797
|
0.00001
|
|
NM_006767.4(LZTR1):c.1243G>T (p.Glu415Ter)
|
rs1436064204
|
0.00001
|
|
NM_006767.4(LZTR1):c.1251C>G (p.Tyr417Ter)
|
rs1924657431
|
0.00001
|
|
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter)
|
rs770933647
|
0.00001
|
|
NM_006767.4(LZTR1):c.1587C>A (p.Tyr529Ter)
|
rs371015800
|
0.00001
|
|
NM_006767.4(LZTR1):c.1702C>T (p.Gln568Ter)
|
rs1924756229
|
0.00001
|
|
NM_006767.4(LZTR1):c.1729C>T (p.Gln577Ter)
|
rs1390034681
|
0.00001
|
|
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs)
|
rs1460026299
|
0.00001
|
|
NM_006767.4(LZTR1):c.1785+1G>A
|
rs145594158
|
0.00001
|
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
|
NM_006767.4(LZTR1):c.263+1G>A
|
rs761241914
|
0.00001
|
|
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)
|
rs587777177
|
0.00001
|
|
NM_006767.4(LZTR1):c.401-2A>G
|
rs1222197005
|
0.00001
|
|
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln)
|
rs781431741
|
0.00001
|
|
NM_006767.4(LZTR1):c.594-2A>G
|
rs1374011263
|
0.00001
|
|
NM_006767.4(LZTR1):c.651+1G>T
|
rs1450044732
|
0.00001
|
|
NM_006767.4(LZTR1):c.671dup (p.Ser227fs)
|
rs1351226319
|
0.00001
|
|
NM_006767.4(LZTR1):c.794G>A (p.Trp265Ter)
|
rs546713633
|
0.00001
|
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
|
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)
|
rs797045165
|
0.00001
|
|
NM_006767.4(LZTR1):c.955C>T (p.Gln319Ter)
|
rs1924617179
|
0.00001
|
|
NM_006767.4(LZTR1):c.993+1G>A
|
rs770368435
|
0.00001
|
|
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)
|
rs121908458
|
0.00001
|
|
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln)
|
rs151344523
|
0.00001
|
|
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp)
|
rs1283838287
|
0.00001
|
|
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter)
|
rs764858363
|
0.00001
|
|
NM_006859.4(LIAS):c.746G>A (p.Arg249His)
|
rs144133667
|
0.00001
|
|
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr)
|
rs121908943
|
0.00001
|
|
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs)
|
rs1368779496
|
0.00001
|
|
NM_006892.4(DNMT3B):c.2421-11G>A
|
rs547940069
|
0.00001
|
|
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys)
|
rs201579632
|
0.00001
|
|
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln)
|
rs121908946
|
0.00001
|
|
NM_006907.4(PYCR1):c.356G>A (p.Arg119His)
|
rs121918377
|
0.00001
|
|
NM_006912.6(RIT1):c.251C>T (p.Ala84Val)
|
rs869025196
|
0.00001
|
|
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter)
|
rs767241917
|
0.00001
|
|
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
|
rs750566714
|
0.00001
|
|
NM_006949.4(STXBP2):c.1452+1G>A
|
rs779558314
|
0.00001
|
|
NM_006949.4(STXBP2):c.1611T>G (p.Tyr537Ter)
|
rs772962304
|
0.00001
|
|
NM_006949.4(STXBP2):c.560C>T (p.Pro187Leu)
|
rs765763103
|
0.00001
|
|
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp)
|
rs28937595
|
0.00001
|
|
NM_007055.4(POLR3A):c.1048+5G>T
|
rs890755853
|
0.00001
|
|
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)
|
rs774007232
|
0.00001
|
|
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu)
|
rs267608670
|
0.00001
|
|
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter)
|
rs750874617
|
0.00001
|
|
NM_007055.4(POLR3A):c.3337-11T>C
|
rs1564613755
|
0.00001
|
|
NM_007055.4(POLR3A):c.3337-5T>A
|
rs368905417
|
0.00001
|
|
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter)
|
rs755978559
|
0.00001
|
|
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys)
|
rs150966634
|
0.00001
|
|
NM_007126.5(VCP):c.283C>T (p.Arg95Cys)
|
rs121909332
|
0.00001
|
|
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val)
|
rs763958615
|
0.00001
|
|
NM_007186.6(CEP250):c.3091C>T (p.Gln1031Ter)
|
rs1243282597
|
0.00001
|
|
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)
|
rs760502479
|
0.00001
|
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
|
NM_007194.4(CHEK2):c.1462-1G>A
|
rs1060502698
|
0.00001
|
|
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)
|
rs756250205
|
0.00001
|
|
NM_007194.4(CHEK2):c.1489del (p.Asp497fs)
|
rs774175654
|
0.00001
|
|
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)
|
rs1555932341
|
0.00001
|
|
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)
|
rs1064793817
|
0.00001
|
|
NM_007194.4(CHEK2):c.319+1G>A
|
rs765080766
|
0.00001
|
|
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)
|
rs756949505
|
0.00001
|
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+2T>G
|
rs560596101
|
0.00001
|
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
|
NM_007194.4(CHEK2):c.792_792+1del
|
rs774831804
|
0.00001
|
|
NM_007194.4(CHEK2):c.846+1G>C
|
rs864622149
|
0.00001
|
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
|
NM_007198.4(PLPBP):c.722G>A (p.Arg241Gln)
|
rs760609867
|
0.00001
|
|
NM_007214.5(SEC63):c.2006_2007del (p.His669fs)
|
rs1403483213
|
0.00001
|
|
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter)
|
rs768568123
|
0.00001
|
|
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp)
|
rs886037843
|
0.00001
|
|
NM_007215.4(POLG2):c.743C>A (p.Ser248Ter)
|
rs1316363979
|
0.00001
|
|
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)
|
rs782269909
|
0.00001
|
|
NM_007272.3(CTRC):c.494-1G>C
|
rs766917452
|
0.00001
|
|
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter)
|
rs747905422
|
0.00001
|
|
NM_007289.4(MME):c.1781-2A>G
|
rs765231758
|
0.00001
|
|
NM_007289.4(MME):c.202C>T (p.Arg68Ter)
|
rs201692212
|
0.00001
|
|
NM_007289.4(MME):c.440-2A>C
|
rs200435950
|
0.00001
|
|
NM_007289.4(MME):c.536-1G>A
|
rs759072209
|
0.00001
|
|
NM_007289.4(MME):c.877C>T (p.Arg293Ter)
|
rs764060752
|
0.00001
|
|
NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg)
|
rs80356880
|
0.00001
|
|
NM_007294.4(BRCA1):c.212+3A>G
|
rs80358083
|
0.00001
|
|
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs)
|
rs80357717
|
0.00001
|
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
|
NM_007294.4(BRCA1):c.4097-2A>G
|
rs80358019
|
0.00001
|
|
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)
|
rs80356988
|
0.00001
|
|
NM_007294.4(BRCA1):c.4986+6T>C
|
rs80358086
|
0.00001
|
|
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)
|
rs80187739
|
0.00001
|
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)
|
rs45553935
|
0.00001
|
|
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)
|
rs41293463
|
0.00001
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
0.00001
|
|
NM_007294.4(BRCA1):c.5406+5G>T
|
rs80358073
|
0.00001
|
|
NM_007294.4(BRCA1):c.5467+1G>A
|
rs80358145
|
0.00001
|
|
NM_007294.4(BRCA1):c.5467+2T>C
|
rs80358009
|
0.00001
|
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
|
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)
|
rs80356730
|
0.00001
|
|
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)
|
rs80356719
|
0.00001
|
|
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)
|
rs80356721
|
0.00001
|
|
NM_012079.6(DGAT1):c.838C>T (p.Arg280Ter)
|
rs1554847435
|
0.00001
|
|
NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter)
|
rs121908602
|
0.00001
|
|
NM_012123.4(MTO1):c.1405C>T (p.Arg469Ter)
|
rs764848745
|
0.00001
|
|
NM_012144.4(DNAI1):c.139del (p.Ala47fs)
|
rs1824446213
|
0.00001
|
|
NM_012144.4(DNAI1):c.1530del (p.Asp509_Tyr510insTer)
|
rs751920647
|
0.00001
|
|
NM_012144.4(DNAI1):c.1569+1G>T
|
rs1465404366
|
0.00001
|
|
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)
|
rs1371519471
|
0.00001
|
|
NM_012144.4(DNAI1):c.1818+1G>T
|
rs904790792
|
0.00001
|
|
NM_012144.4(DNAI1):c.272dup (p.Tyr91Ter)
|
rs1416324075
|
0.00001
|
|
NM_012145.4(DTYMK):c.242C>T (p.Pro81Leu)
|
rs1267106442
|
0.00001
|
|
NM_012179.4(FBXO7):c.133C>T (p.Arg45Ter)
|
rs1370252127
|
0.00001
|
|
NM_012179.4(FBXO7):c.709C>T (p.Gln237Ter)
|
rs2057490468
|
0.00001
|
|
NM_012179.4(FBXO7):c.961C>T (p.Arg321Ter)
|
rs369105683
|
0.00001
|
|
NM_012186.3(FOXE3):c.289A>G (p.Ile97Val)
|
rs774505755
|
0.00001
|
|
NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp)
|
rs765246909
|
0.00001
|
|
NM_012200.4(B3GAT3):c.505C>T (p.Arg169Trp)
|
rs766019547
|
0.00001
|
|
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)
|
rs180177304
|
0.00001
|
|
NM_012203.2(GRHPR):c.1A>G (p.Met1Val)
|
rs1554746094
|
0.00001
|
|
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)
|
rs180177307
|
0.00001
|
|
NM_012203.2(GRHPR):c.404+5G>A
|
rs757796926
|
0.00001
|
|
NM_012203.2(GRHPR):c.454dup (p.Thr152fs)
|
rs771019056
|
0.00001
|
|
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg)
|
rs180177312
|
0.00001
|
|
NM_012203.2(GRHPR):c.865+1G>T
|
rs771990662
|
0.00001
|
|
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)
|
rs180177322
|
0.00001
|
|
NM_012205.3(HAAO):c.323G>A (p.Arg108Gln)
|
rs1363954556
|
0.00001
|
|
NM_012208.4(HARS2):c.475C>T (p.Arg159Ter)
|
rs376181876
|
0.00001
|
|
NM_012213.3(MLYCD):c.60del (p.Arg21fs)
|
rs987846203
|
0.00001
|
|
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp)
|
rs121908081
|
0.00001
|
|
NM_012213.3(MLYCD):c.928C>T (p.Arg310Ter)
|
rs759043861
|
0.00001
|
|
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)
|
rs766629205
|
0.00001
|
|
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)
|
rs764260054
|
0.00001
|
|
NM_012233.3(RAB3GAP1):c.68G>A (p.Trp23Ter)
|
rs145829300
|
0.00001
|
|
NM_012243.3(SLC35A3):c.211C>T (p.Arg71Ter)
|
rs778502240
|
0.00001
|
|
NM_012247.5(SEPHS1):c.1112G>A (p.Arg371Gln)
|
rs1833029885
|
0.00001
|
|
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)
|
rs782457908
|
0.00001
|
|
NM_012338.4(TSPAN12):c.413A>G (p.Tyr138Cys)
|
rs587777283
|
0.00001
|
|
NM_012338.4(TSPAN12):c.460del (p.Gln154fs)
|
rs1793956441
|
0.00001
|
|
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)
|
rs587777167
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs)
|
rs386833987
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)
|
rs1057516910
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1111+1G>A
|
rs777862172
|
0.00001
|
|
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)
|
rs769235753
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1259+1G>A
|
rs146095590
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1A>C (p.Met1Leu)
|
rs1304456183
|
0.00001
|
|
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)
|
rs1472109408
|
0.00001
|
|
NM_012434.5(SLC17A5):c.795_796insTT (p.Ile266fs)
|
rs1768947811
|
0.00001
|
|
NM_012434.5(SLC17A5):c.819+1G>A
|
rs1057517028
|
0.00001
|
|
NM_012434.5(SLC17A5):c.95-1G>C
|
rs386833995
|
0.00001
|
|
NM_012463.4(ATP6V0A2):c.1514+1G>A
|
rs374480381
|
0.00001
|
|
NM_013242.3(CFAP20):c.164+1G>A
|
rs767928662
|
0.00001
|
|
NM_013242.3(CFAP20):c.257A>G (p.Tyr86Cys)
|
rs1377392375
|
0.00001
|
|
NM_013242.3(CFAP20):c.305G>A (p.Arg102His)
|
rs1487548809
|
0.00001
|
|
NM_013242.3(CFAP20):c.397del (p.Gln133fs)
|
rs755182323
|
0.00001
|
|
NM_013242.3(CFAP20):c.457A>G (p.Arg153Gly)
|
rs2543436772
|
0.00001
|
|
NM_013296.5(GPSM2):c.1063-1G>T
|
rs773068151
|
0.00001
|
|
NM_013328.4(PYCR2):c.309del (p.Val104fs)
|
rs2102672892
|
0.00001
|
|
NM_013328.4(PYCR2):c.319-1G>C
|
rs1450223894
|
0.00001
|
|
NM_013339.4(ALG6):c.226dup (p.Thr76fs)
|
rs1644468733
|
0.00001
|
|
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)
|
rs762643273
|
0.00001
|
|
NM_013339.4(ALG6):c.680+1G>A
|
rs1253289234
|
0.00001
|
|
NM_013339.4(ALG6):c.680+2T>G
|
rs868768232
|
0.00001
|
|
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)
|
rs372079206
|
0.00001
|
|
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)
|
rs267606970
|
0.00001
|
|
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro)
|
rs190285831
|
0.00001
|
|
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter)
|
rs775932206
|
0.00001
|
|
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys)
|
rs775551492
|
0.00001
|
|
NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter)
|
rs769100855
|
0.00001
|
|
NM_013432.5(TONSL):c.2623C>T (p.Arg875Ter)
|
rs568942029
|
0.00001
|
|
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp)
|
rs755575416
|
0.00001
|
|
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr)
|
rs763004980
|
0.00001
|
|
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)
|
rs149753643
|
0.00001
|
|
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)
|
rs377022708
|
0.00001
|
|
NM_014049.5(ACAD9):c.1825C>T (p.Arg609Ter)
|
rs778786636
|
0.00001
|
|
NM_014049.5(ACAD9):c.1A>T (p.Met1Leu)
|
rs773949927
|
0.00001
|
|
NM_014049.5(ACAD9):c.253C>T (p.Arg85Ter)
|
rs148694290
|
0.00001
|
|
NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln)
|
rs387907042
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.1191del (p.Thr399fs)
|
rs956223874
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp)
|
rs119473038
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.1931G>A (p.Arg644Gln)
|
rs140515579
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.1933C>T (p.Arg645Cys)
|
rs119473037
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His)
|
rs1281345070
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp)
|
rs1480919035
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs)
|
rs1391540245
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter)
|
rs771533907
|
0.00001
|
|
NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr)
|
rs757078301
|
0.00001
|
|
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)
|
rs121434440
|
0.00001
|
|
NM_014239.4(EIF2B2):c.547C>T (p.Arg183Ter)
|
rs104894427
|
0.00001
|
|
NM_014239.4(EIF2B2):c.818A>G (p.Lys273Arg)
|
rs113994016
|
0.00001
|
|
NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp)
|
rs104894426
|
0.00001
|
|
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)
|
rs121912631
|
0.00001
|
|
NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter)
|
rs955766374
|
0.00001
|
|
NM_014249.4(NR2E3):c.310C>T (p.Arg104Trp)
|
rs990307718
|
0.00001
|
|
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)
|
rs766096417
|
0.00001
|
|
NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter)
|
rs786205493
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met)
|
rs768922690
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)
|
rs80338726
|
0.00001
|
|
NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter)
|
rs1448259297
|
0.00001
|
|
NM_014252.4(SLC25A15):c.44C>T (p.Ala15Val)
|
rs202247806
|
0.00001
|
|
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter)
|
rs1480063127
|
0.00001
|
|
NM_014252.4(SLC25A15):c.623-1G>A
|
rs749817266
|
0.00001
|
|
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg)
|
rs104894430
|
0.00001
|
|
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln)
|
rs104894431
|
0.00001
|
|
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs)
|
rs397514545
|
0.00001
|
|
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)
|
rs1007096305
|
0.00001
|
|
NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg)
|
rs121908482
|
0.00001
|
|
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter)
|
rs368778231
|
0.00001
|
|
NM_014297.5(ETHE1):c.375+5G>A
|
rs769259233
|
0.00001
|
|
NM_014297.5(ETHE1):c.388del (p.Arg130fs)
|
rs1236038385
|
0.00001
|
|
NM_014297.5(ETHE1):c.505+1G>A
|
rs935855792
|
0.00001
|
|
NM_014297.5(ETHE1):c.79C>T (p.Gln27Ter)
|
rs749803238
|
0.00001
|
|
NM_014317.5(PDSS1):c.661C>T (p.Arg221Ter)
|
rs767499454
|
0.00001
|
|
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg)
|
rs1264794214
|
0.00001
|
|
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
|
rs201883601
|
0.00001
|
|
NM_014336.5(AIPL1):c.465+1G>A
|
rs887335730
|
0.00001
|
|
NM_014336.5(AIPL1):c.465G>T (p.Gln155His)
|
rs758001091
|
0.00001
|
|
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp)
|
rs757976755
|
0.00001
|
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
|
NM_014362.4(HIBCH):c.913A>G (p.Thr305Ala)
|
rs558397748
|
0.00001
|
|
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)
|
rs1057517250
|
0.00001
|
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
rs1454517884
|
0.00001
|
|
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)
|
rs769212398
|
0.00001
|
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
|
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter)
|
rs766457071
|
0.00001
|
|
NM_014363.6(SACS):c.3066del (p.Asn1025fs)
|
rs1057516767
|
0.00001
|
|
NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter)
|
rs1027429746
|
0.00001
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
0.00001
|
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
|
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)
|
rs780184251
|
0.00001
|
|
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)
|
rs773182375
|
0.00001
|
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
|
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
|
rs750181262
|
0.00001
|
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
|
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)
|
rs886041949
|
0.00001
|
|
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
|
rs121908420
|
0.00001
|
|
NM_014396.4(VPS41):c.853T>C (p.Ser285Pro)
|
rs544223875
|
0.00001
|
|
NM_014402.5(UQCRQ):c.134C>T (p.Ser45Phe)
|
rs11544803
|
0.00001
|
|
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter)
|
rs773049314
|
0.00001
|
|
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter)
|
rs755288504
|
0.00001
|
|
NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser)
|
rs387907377
|
0.00001
|
|
NM_014625.4(NPHS2):c.378+1G>A
|
rs762631237
|
0.00001
|
|
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)
|
rs530318579
|
0.00001
|
|
NM_014625.4(NPHS2):c.535-1G>T
|
rs1291398331
|
0.00001
|
|
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)
|
rs74315348
|
0.00001
|
|
NM_014625.4(NPHS2):c.873+2T>A
|
rs967339926
|
0.00001
|
|
NM_014672.4(PRORP):c.1159A>G (p.Thr387Ala)
|
rs759407337
|
0.00001
|
|
NM_014712.3(SETD1A):c.2737C>T (p.Arg913Cys)
|
rs2056165149
|
0.00001
|
|
NM_014712.3(SETD1A):c.4582-2_4582-1del
|
rs755127868
|
0.00001
|
|
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter)
|
rs144513458
|
0.00001
|
|
NM_014714.4(IFT140):c.2768+1dup
|
rs1404356337
|
0.00001
|
|
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter)
|
rs1432688490
|
0.00001
|
|
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe)
|
rs1403669200
|
0.00001
|
|
NM_014738.6(TMEM94):c.1256_1257del (p.Gln419fs)
|
rs2052160365
|
0.00001
|
|
NM_014738.6(TMEM94):c.2734C>T (p.Arg912Ter)
|
rs557746506
|
0.00001
|
|
NM_014762.4(DHCR24):c.281G>A (p.Arg94His)
|
rs387906939
|
0.00001
|
|
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys)
|
rs119475041
|
0.00001
|
|
NM_014780.5(CUL7):c.1392G>A (p.Trp464Ter)
|
rs1764272092
|
0.00001
|
|
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter)
|
rs746333044
|
0.00001
|
|
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter)
|
rs748555538
|
0.00001
|
|
NM_014780.5(CUL7):c.4391A>C (p.His1464Pro)
|
rs121918229
|
0.00001
|
|
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter)
|
rs387907106
|
0.00001
|
|
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter)
|
rs886038200
|
0.00001
|
|
NM_014804.3(KIAA0753):c.661C>T (p.Arg221Ter)
|
rs774799042
|
0.00001
|
|
NM_014804.3(KIAA0753):c.799C>T (p.Arg267Ter)
|
rs868639468
|
0.00001
|
|
NM_014844.5(TECPR2):c.1318_1319del (p.Leu440fs)
|
rs765874018
|
0.00001
|
|
NM_014844.5(TECPR2):c.2495_2498dup (p.Cys834fs)
|
rs1364819755
|
0.00001
|
|
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs)
|
rs751970061
|
0.00001
|
|
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
0.00001
|
|
NM_014845.6(FIG4):c.290-2A>T
|
rs587777715
|
0.00001
|
|
NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter)
|
rs778457903
|
0.00001
|
|
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter)
|
rs376075583
|
0.00001
|
|
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)
|
rs773371488
|
0.00001
|
|
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp)
|
rs373107074
|
0.00001
|
|
NM_014875.3(KIF14):c.103C>T (p.Arg35Ter)
|
rs774318019
|
0.00001
|
|
NM_014915.3(ANKRD26):c.-126T>C
|
rs1589393792
|
0.00001
|
|
NM_014946.4(SPAST):c.1245+1G>A
|
rs875989878
|
0.00001
|
|
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)
|
rs863224923
|
0.00001
|
|
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter)
|
rs765277720
|
0.00001
|
|
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)
|
rs774951398
|
0.00001
|
|
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)
|
rs387907310
|
0.00001
|
|
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser)
|
rs762175796
|
0.00001
|
|
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)
|
rs1391764195
|
0.00001
|
|
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)
|
rs1169623576
|
0.00001
|
|
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)
|
rs773379832
|
0.00001
|
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
|
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)
|
rs29001665
|
0.00001
|
|
NM_015047.3(EMC1):c.797T>G (p.Leu266Ter)
|
rs1277233450
|
0.00001
|
|
NM_015072.5(TTLL5):c.3339_3340del (p.Gly1115fs)
|
rs1595168879
|
0.00001
|
|
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter)
|
rs1430741326
|
0.00001
|
|
NM_015107.3(PHF8):c.1731-1G>A
|
rs797044651
|
0.00001
|
|
NM_015139.3(SLC35D1):c.932G>A (p.Trp311Ter)
|
rs137853111
|
0.00001
|
|
NM_015166.4(MLC1):c.136del (p.Cys46fs)
|
rs1057516766
|
0.00001
|
|
NM_015166.4(MLC1):c.177+1G>T
|
rs1374593138
|
0.00001
|
|
NM_015166.4(MLC1):c.178-10T>A
|
rs80358243
|
0.00001
|
|
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu)
|
rs281875309
|
0.00001
|
|
NM_015166.4(MLC1):c.251G>A (p.Arg84His)
|
rs1425784992
|
0.00001
|
|
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)
|
rs80358245
|
0.00001
|
|
NM_015166.4(MLC1):c.353C>T (p.Thr118Met)
|
rs281875316
|
0.00001
|
|
NM_015166.4(MLC1):c.525+1G>A
|
rs769135961
|
0.00001
|
|
NM_015166.4(MLC1):c.714+1G>A
|
rs761620701
|
0.00001
|
|
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)
|
rs1050220787
|
0.00001
|
|
NM_015175.3(NBEAL2):c.4485-1G>T
|
rs763842878
|
0.00001
|
|
NM_015214.3(DDHD2):c.859C>T (p.Arg287Ter)
|
rs398122826
|
0.00001
|
|
NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys)
|
rs879253864
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)
|
rs776941281
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter)
|
rs756821449
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)
|
rs751444506
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2299C>T (p.Gln767Ter)
|
rs1326042797
|
0.00001
|
|
NM_015274.3(MAN2B2):c.1843C>T (p.Gln615Ter)
|
rs745775933
|
0.00001
|
|
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter)
|
rs386834001
|
0.00001
|
|
NM_015294.6(TRIM37):c.326G>C (p.Cys109Ser)
|
rs121908391
|
0.00001
|
|
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn)
|
rs386834008
|
0.00001
|
|
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser)
|
rs786201031
|
0.00001
|
|
NM_015338.6(ASXL1):c.427C>T (p.Arg143Ter)
|
rs1179121574
|
0.00001
|
|
NM_015340.4(LARS2):c.1249A>G (p.Met417Val)
|
rs763616548
|
0.00001
|
|
NM_015340.4(LARS2):c.196C>T (p.Arg66Ter)
|
rs1214818871
|
0.00001
|
|
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp)
|
rs774649299
|
0.00001
|
|
NM_015340.4(LARS2):c.683G>A (p.Arg228His)
|
rs770440975
|
0.00001
|
|
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys)
|
rs749627411
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter)
|
rs988442865
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.4114_4115insGAAGGGC (p.Ala1372fs)
|
rs950356390
|
0.00001
|
|
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp)
|
rs267606740
|
0.00001
|
|
NM_015386.3(COG4):c.529C>T (p.Arg177Ter)
|
rs376663459
|
0.00001
|
|
NM_015404.4(WHRN):c.1417-1G>A
|
rs779760634
|
0.00001
|
|
NM_015404.4(WHRN):c.559C>T (p.Gln187Ter)
|
rs1230382008
|
0.00001
|
|
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)
|
rs551541795
|
0.00001
|
|
NM_015450.3(POT1):c.233T>C (p.Ile78Thr)
|
rs947005337
|
0.00001
|
|
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)
|
rs387906948
|
0.00001
|
|
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His)
|
rs369035155
|
0.00001
|
|
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)
|
rs267607027
|
0.00001
|
|
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)
|
rs768019897
|
0.00001
|
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
0.00001
|
|
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)
|
rs1347498294
|
0.00001
|
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
|
NM_015506.3(MMACHC):c.430-2A>G
|
rs376964010
|
0.00001
|
|
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)
|
rs768978351
|
0.00001
|
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
|
NM_015506.3(MMACHC):c.640dup (p.Arg214fs)
|
rs1643683813
|
0.00001
|
|
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter)
|
rs587777420
|
0.00001
|
|
NM_015512.5(DNAH1):c.7676del (p.Val2559fs)
|
rs765417610
|
0.00001
|
|
NM_015533.4(TKFC):c.1628G>T (p.Arg543Ile)
|
rs547013163
|
0.00001
|
|
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)
|
rs144104577
|
0.00001
|
|
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr)
|
rs745508510
|
0.00001
|
|
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter)
|
rs764091969
|
0.00001
|
|
NM_015650.4(IFT54):c.1368-1del
|
rs764906529
|
0.00001
|
|
NM_015650.4(IFT54):c.169G>A (p.Glu57Lys)
|
rs769651861
|
0.00001
|
|
NM_015650.4(IFT54):c.988-1G>C
|
rs372499275
|
0.00001
|
|
NM_015662.3(IFT172):c.1525-1G>A
|
rs370540673
|
0.00001
|
|
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter)
|
rs202024173
|
0.00001
|
|
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)
|
rs761095604
|
0.00001
|
|
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)
|
rs750338419
|
0.00001
|
|
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)
|
rs999731005
|
0.00001
|
|
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter)
|
rs150246251
|
0.00001
|
|
NM_015662.3(IFT172):c.455_462dup (p.Val155fs)
|
rs1455656088
|
0.00001
|
|
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)
|
rs587777079
|
0.00001
|
|
NM_015665.6(AAAS):c.464G>A (p.Arg155His)
|
rs758440592
|
0.00001
|
|
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)
|
rs773601814
|
0.00001
|
|
NM_015702.3(MMADHC):c.154+1G>A
|
rs1385597423
|
0.00001
|
|
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)
|
rs118204048
|
0.00001
|
|
NM_015713.5(RRM2B):c.158G>A (p.Trp53Ter)
|
rs768498594
|
0.00001
|
|
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val)
|
rs121918311
|
0.00001
|
|
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter)
|
rs759960319
|
0.00001
|
|
NM_015909.4(NBAS):c.209+2T>G
|
rs773409140
|
0.00001
|
|
NM_015909.4(NBAS):c.2373G>A (p.Trp791Ter)
|
rs927816752
|
0.00001
|
|
NM_015909.4(NBAS):c.5547del (p.Trp1850fs)
|
rs1478754689
|
0.00001
|
|
NM_015909.4(NBAS):c.680A>C (p.His227Pro)
|
rs748880753
|
0.00001
|
|
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)
|
rs387906941
|
0.00001
|
|
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val)
|
rs1277383877
|
0.00001
|
|
NM_015958.3(DPH5):c.779A>G (p.His260Arg)
|
rs746680777
|
0.00001
|
|
NM_015965.7(NDUFA13):c.170G>A (p.Arg57His)
|
rs752513525
|
0.00001
|
|
NM_016008.4(DYNC2LI1):c.372G>A (p.Trp124Ter)
|
rs769975073
|
0.00001
|
|
NM_016030.6(TRAPPC12):c.1880C>T (p.Ala627Val)
|
rs768950892
|
0.00001
|
|
NM_016035.5(COQ4):c.190C>T (p.Pro64Ser)
|
rs766317663
|
0.00001
|
|
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)
|
rs1163170578
|
0.00001
|
|
NM_016035.5(COQ4):c.458C>T (p.Ala153Val)
|
rs757173567
|
0.00001
|
|
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys)
|
rs1045118320
|
0.00001
|
|
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)
|
rs774976459
|
0.00001
|
|
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)
|
rs113993998
|
0.00001
|
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00001
|
|
NM_016097.5(IER3IP1):c.233T>C (p.Leu78Pro)
|
rs387907012
|
0.00001
|
|
NM_016103.4(SAR1B):c.537T>A (p.Ser179Arg)
|
rs28942110
|
0.00001
|
|
NM_016123.4(IRAK4):c.333del (p.Leu112fs)
|
rs766515269
|
0.00001
|
|
NM_016138.5(COQ7):c.3G>T (p.Met1Ile)
|
rs746489573
|
0.00001
|
|
NM_016156.6(MTMR2):c.304C>T (p.Arg102Ter)
|
rs115506357
|
0.00001
|
|
NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly)
|
rs755311638
|
0.00001
|
|
NM_016188.5(ACTL6B):c.1120C>T (p.Arg374Ter)
|
rs766897181
|
0.00001
|
|
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln)
|
rs1060499738
|
0.00001
|
|
NM_016213.5(TRIP4):c.1396C>T (p.Arg466Ter)
|
rs745835965
|
0.00001
|
|
NM_016213.5(TRIP4):c.760C>T (p.Arg254Ter)
|
rs869312827
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys)
|
rs387906885
|
0.00001
|
|
NM_016219.5(MAN1B1):c.172G>T (p.Glu58Ter)
|
rs753503405
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs)
|
rs1382373816
|
0.00001
|
|
NM_016222.4(DDX41):c.364G>T (p.Glu122Ter)
|
rs200567842
|
0.00001
|
|
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg)
|
rs746166328
|
0.00001
|
|
NM_016239.4(MYO15A):c.10082+1G>A
|
rs772568482
|
0.00001
|
|
NM_016239.4(MYO15A):c.4252G>A (p.Gly1418Arg)
|
rs753790346
|
0.00001
|
|
NM_016239.4(MYO15A):c.4549C>T (p.Gln1517Ter)
|
rs776173660
|
0.00001
|
|
NM_016239.4(MYO15A):c.5515C>T (p.Gln1839Ter)
|
rs760853089
|
0.00001
|
|
NM_016239.4(MYO15A):c.5810G>A (p.Arg1937His)
|
rs374183624
|
0.00001
|
|
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter)
|
rs1567649945
|
0.00001
|
|
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser)
|
rs375459945
|
0.00001
|
|
NM_016239.4(MYO15A):c.6956+1G>A
|
rs1465311328
|
0.00001
|
|
NM_016239.4(MYO15A):c.7006C>T (p.Gln2336Ter)
|
rs1169954783
|
0.00001
|
|
NM_016239.4(MYO15A):c.7396-1G>A
|
rs760461823
|
0.00001
|
|
NM_016239.4(MYO15A):c.7654+1G>C
|
rs1338603862
|
0.00001
|
|
NM_016239.4(MYO15A):c.7893+1G>A
|
rs727503316
|
0.00001
|
|
NM_016239.4(MYO15A):c.8005dup (p.Thr2669fs)
|
rs1221876133
|
0.00001
|
|
NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His)
|
rs773476384
|
0.00001
|
|
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=)
|
rs878853228
|
0.00001
|
|
NM_016239.4(MYO15A):c.8375T>C (p.Val2792Ala)
|
rs983107737
|
0.00001
|
|
NM_016239.4(MYO15A):c.9408G>C (p.Trp3136Cys)
|
rs746969842
|
0.00001
|
|
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs)
|
rs757070287
|
0.00001
|
|
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)
|
rs199867882
|
0.00001
|
|
NM_016247.4(IMPG2):c.3472A>T (p.Lys1158Ter)
|
rs1276845142
|
0.00001
|
|
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)
|
rs763295314
|
0.00001
|
|
NM_016247.4(IMPG2):c.667-1G>A
|
rs1334444660
|
0.00001
|
|
NM_016247.4(IMPG2):c.829-1G>T
|
rs776740276
|
0.00001
|
|
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)
|
rs1049674573
|
0.00001
|
|
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)
|
rs765443042
|
0.00001
|
|
NM_016341.4(PLCE1):c.4483C>T (p.Arg1495Ter)
|
rs548655036
|
0.00001
|
|
NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter)
|
rs869312748
|
0.00001
|
|
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)
|
rs780345312
|
0.00001
|
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
|
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs)
|
rs771224190
|
0.00001
|
|
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)
|
rs1304109530
|
0.00001
|
|
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter)
|
rs755133567
|
0.00001
|
|
NM_016529.6(ATP8A2):c.3272+1G>A
|
rs779337270
|
0.00001
|
|
NM_016630.7(SPG21):c.736C>T (p.Arg246Ter)
|
rs369957508
|
0.00001
|
|
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)
|
rs564185858
|
0.00001
|
|
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)
|
rs193302867
|
0.00001
|
|
NM_016955.4(SEPSECS):c.1148dup (p.His383fs)
|
rs761072755
|
0.00001
|
|
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)
|
rs267607035
|
0.00001
|
|
NM_017534.6(MYH2):c.4537+1G>A
|
rs567336764
|
0.00001
|
|
NM_017547.4(FOXRED1):c.1102C>T (p.Gln368Ter)
|
rs1555066709
|
0.00001
|
|
NM_017547.4(FOXRED1):c.86-1G>A
|
rs768720209
|
0.00001
|
|
NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg)
|
rs749110767
|
0.00001
|
|
NM_017570.5(OPLAH):c.3016C>T (p.Gln1006Ter)
|
rs782331682
|
0.00001
|
|
NM_017570.5(OPLAH):c.587+1G>A
|
rs1272869557
|
0.00001
|
|
NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter)
|
rs993687029
|
0.00001
|
|
NM_017646.6(TRIT1):c.967C>T (p.Arg323Trp)
|
rs370866302
|
0.00001
|
|
NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln)
|
rs1047420796
|
0.00001
|
|
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys)
|
rs1247438528
|
0.00001
|
|
NM_017662.5(TRPM6):c.166C>T (p.Arg56Ter)
|
rs121912624
|
0.00001
|
|
NM_017671.5(FERMT1):c.1718+2T>C
|
rs760256639
|
0.00001
|
|
NM_017714.3(TASP1):c.701C>T (p.Thr234Met)
|
rs904200599
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)
|
rs150877512
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1429_1430del (p.Met477fs)
|
rs1657829644
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)
|
rs386834018
|
0.00001
|
|
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)
|
rs193919337
|
0.00001
|
|
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)
|
rs375431575
|
0.00001
|
|
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
|
rs386834034
|
0.00001
|
|
NM_017739.4(POMGNT1):c.652+1G>T
|
rs386834035
|
0.00001
|
|
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
|
rs386834039
|
0.00001
|
|
NM_017755.6(NSUN2):c.1222C>T (p.Arg408Ter)
|
rs1221890051
|
0.00001
|
|
NM_017755.6(NSUN2):c.360-1G>C
|
rs2126504474
|
0.00001
|
|
NM_017763.6(RNF43):c.988C>T (p.Arg330Ter)
|
rs1972767451
|
0.00001
|
|
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)
|
rs386834050
|
0.00001
|
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
|
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
|
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr)
|
rs1443735811
|
0.00001
|
|
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu)
|
rs200626873
|
0.00001
|
|
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu)
|
rs376328153
|
0.00001
|
|
NM_017837.4(PIGV):c.607C>T (p.Arg203Cys)
|
rs149690056
|
0.00001
|
|
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)
|
rs753554501
|
0.00001
|
|
NM_017841.4(SDHAF2):c.37-1G>C
|
rs761956866
|
0.00001
|
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
|
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu)
|
rs760271120
|
0.00001
|
|
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)
|
rs758921701
|
0.00001
|
|
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)
|
rs559590419
|
0.00001
|
|
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)
|
rs765998879
|
0.00001
|
|
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter)
|
rs145741622
|
0.00001
|
|
NM_017909.4(RMND1):c.613G>T (p.Asp205Tyr)
|
rs606231472
|
0.00001
|
|
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)
|
rs200788163
|
0.00001
|
|
NM_017946.4(FKBP14):c.34dup (p.Leu12fs)
|
rs778176957
|
0.00001
|
|
NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter)
|
rs753355121
|
0.00001
|
|
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys)
|
rs750896617
|
0.00001
|
|
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter)
|
rs754867753
|
0.00001
|
|
NM_018006.5(TRMU):c.2T>G (p.Met1Arg)
|
rs118203992
|
0.00001
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
0.00001
|
|
NM_018051.5(DYNC2I1):c.1321C>T (p.Arg441Ter)
|
rs766663693
|
0.00001
|
|
NM_018051.5(DYNC2I1):c.2284C>T (p.Arg762Ter)
|
rs1456300819
|
0.00001
|
|
NM_018051.5(DYNC2I1):c.2841del (p.Gln947fs)
|
rs748645101
|
0.00001
|
|
NM_018051.5(DYNC2I1):c.682C>T (p.Arg228Ter)
|
rs752596216
|
0.00001
|
|
NM_018055.5(NODAL):c.891+1G>A
|
rs878855044
|
0.00001
|
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
|
NM_018075.5(ANO10):c.1163-9A>G
|
rs1368543726
|
0.00001
|
|
NM_018075.5(ANO10):c.124A>T (p.Lys42Ter)
|
rs768831597
|
0.00001
|
|
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer)
|
rs772345347
|
0.00001
|
|
NM_018075.5(ANO10):c.2T>C (p.Met1Thr)
|
rs531656357
|
0.00001
|
|
NM_018075.5(ANO10):c.338-2A>G
|
rs761765455
|
0.00001
|
|
NM_018082.6(POLR3B):c.1857-2A>C
|
rs267608686
|
0.00001
|
|
NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter)
|
rs758437925
|
0.00001
|
|
NM_018122.5(DARS2):c.159_160del (p.Cys54fs)
|
rs773706813
|
0.00001
|
|
NM_018122.5(DARS2):c.562C>T (p.Arg188Ter)
|
rs751929342
|
0.00001
|
|
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter)
|
rs763770476
|
0.00001
|
|
NM_018127.7(ELAC2):c.1489C>T (p.Arg497Ter)
|
rs550032922
|
0.00001
|
|
NM_018127.7(ELAC2):c.245+2T>A
|
rs748684065
|
0.00001
|
|
NM_018129.4(PNPO):c.471C>A (p.Tyr157Ter)
|
rs148597698
|
0.00001
|
|
NM_018129.4(PNPO):c.685C>T (p.Arg229Trp)
|
rs104894629
|
0.00001
|
|
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter)
|
rs748529285
|
0.00001
|
|
NM_018136.5(ASPM):c.2419+2T>C
|
rs587783225
|
0.00001
|
|
NM_018136.5(ASPM):c.2488-1G>C
|
rs1321892596
|
0.00001
|
|
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter)
|
rs769364943
|
0.00001
|
|
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter)
|
rs587783275
|
0.00001
|
|
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)
|
rs199422194
|
0.00001
|
|
NM_018192.4(P3H2):c.1523G>T (p.Gly508Val)
|
rs724159988
|
0.00001
|
|
NM_018245.3(OGDHL):c.895A>G (p.Arg299Gly)
|
rs924975413
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter)
|
rs587783390
|
0.00001
|
|
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
|
rs773432002
|
0.00001
|
|
NM_018297.4(NGLY1):c.1150-1G>C
|
rs532007026
|
0.00001
|
|
NM_018297.4(NGLY1):c.930C>T (p.Gly310=)
|
rs745814294
|
0.00001
|
|
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys)
|
rs201791209
|
0.00001
|
|
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)
|
rs75895925
|
0.00001
|
|
NM_018474.6(KIZ):c.3G>A (p.Met1Ile)
|
rs1438134533
|
0.00001
|
|
NM_018474.6(KIZ):c.52G>T (p.Glu18Ter)
|
rs587777376
|
0.00001
|
|
NM_018480.7(TMEM126B):c.137del (p.Ala46fs)
|
rs764565613
|
0.00001
|
|
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)
|
rs397515417
|
0.00001
|
|
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln)
|
rs1281361203
|
0.00001
|
|
NM_018668.5(VPS33B):c.1225+5G>C
|
rs398122407
|
0.00001
|
|
NM_018668.5(VPS33B):c.239+5G>A
|
rs372769808
|
0.00001
|
|
NM_018669.6(WDR4):c.509G>A (p.Arg170Gln)
|
rs1292041526
|
0.00001
|
|
NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr)
|
rs786205669
|
0.00001
|
|
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)
|
rs1064794819
|
0.00001
|
|
NM_018706.7(DHTKD1):c.467dup (p.Thr157fs)
|
rs1554791360
|
0.00001
|
|
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter)
|
rs1227032564
|
0.00001
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
rs139123547
|
0.00001
|
|
NM_018941.4(CLN8):c.1A>G (p.Met1Val)
|
rs143730802
|
0.00001
|
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
|
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)
|
rs386834130
|
0.00001
|
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
|
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)
|
rs746645358
|
0.00001
|
|
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)
|
rs587779411
|
0.00001
|
|
NM_018965.4(TREM2):c.132G>A (p.Trp44Ter)
|
rs104894001
|
0.00001
|
|
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter)
|
rs104893998
|
0.00001
|
|
NM_018972.4(GDAP1):c.311-1G>A
|
rs1370011538
|
0.00001
|
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
|
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
|
rs538412810
|
0.00001
|
|
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)
|
rs1554547986
|
0.00001
|
|
NM_018972.4(GDAP1):c.767A>G (p.His256Arg)
|
rs1476856429
|
0.00001
|
|
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)
|
rs770501034
|
0.00001
|
|
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly)
|
rs762515973
|
0.00001
|
|
NM_019023.5(PRMT7):c.1480T>C (p.Trp494Arg)
|
rs751670999
|
0.00001
|
|
NM_019032.6(ADAMTSL4):c.1480C>T (p.Arg494Ter)
|
rs1471582038
|
0.00001
|
|
NM_019032.6(ADAMTSL4):c.2917C>T (p.Arg973Ter)
|
rs757198328
|
0.00001
|
|
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)
|
rs764742792
|
0.00001
|
|
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)
|
rs786204762
|
0.00001
|
|
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs)
|
rs1389959147
|
0.00001
|
|
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)
|
rs200805087
|
0.00001
|
|
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr)
|
rs1554619514
|
0.00001
|
|
NM_019098.5(CNGB3):c.644-1G>C
|
rs201794629
|
0.00001
|
|
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)
|
rs398124348
|
0.00001
|
|
NM_019109.5(ALG1):c.1187+1G>A
|
rs374928784
|
0.00001
|
|
NM_019109.5(ALG1):c.1263G>A (p.Gln421=)
|
rs763496595
|
0.00001
|
|
NM_019109.5(ALG1):c.295C>T (p.Arg99Ter)
|
rs750451819
|
0.00001
|
|
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)
|
rs1474783444
|
0.00001
|
|
NM_019109.5(ALG1):c.823G>T (p.Glu275Ter)
|
rs1372794201
|
0.00001
|
|
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)
|
rs121964927
|
0.00001
|
|
NM_019616.4(F7):c.1158T>G (p.His386Gln)
|
rs121964936
|
0.00001
|
|
NM_019616.4(F7):c.505+78G>A
|
rs764741909
|
0.00001
|
|
NM_019616.4(F7):c.517T>C (p.Cys173Arg)
|
rs372577568
|
0.00001
|
|
NM_019616.4(F7):c.615+1G>T
|
rs769452933
|
0.00001
|
|
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp)
|
rs13297509
|
0.00001
|
|
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His)
|
rs121918128
|
0.00001
|
|
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter)
|
rs367625370
|
0.00001
|
|
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp)
|
rs764744442
|
0.00001
|
|
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)
|
rs398124352
|
0.00001
|
|
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)
|
rs1713700813
|
0.00001
|
|
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)
|
rs119103217
|
0.00001
|
|
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)
|
rs1163620394
|
0.00001
|
|
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)
|
rs748201122
|
0.00001
|
|
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)
|
rs746500530
|
0.00001
|
|
NM_020166.5(MCCC1):c.872del (p.Ala291fs)
|
rs748269732
|
0.00001
|
|
NM_020184.4(CNNM4):c.2149C>T (p.Gln717Ter)
|
rs75559353
|
0.00001
|
|
NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter)
|
rs1269750663
|
0.00001
|
|
NM_020207.7(ERCC6L2):c.901G>T (p.Gly301Ter)
|
rs1829555179
|
0.00001
|
|
NM_020247.5(COQ8A):c.1742dup (p.Ser582fs)
|
rs772127266
|
0.00001
|
|
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)
|
rs119468005
|
0.00001
|
|
NM_020320.5(RARS2):c.1406G>A (p.Arg469His)
|
rs759331139
|
0.00001
|
|
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs)
|
rs863224183
|
0.00001
|
|
NM_020320.5(RARS2):c.1651-2A>G
|
rs2482925700
|
0.00001
|
|
NM_020320.5(RARS2):c.1679G>A (p.Arg560His)
|
rs756502974
|
0.00001
|
|
NM_020320.5(RARS2):c.297+2T>G
|
rs574343583
|
0.00001
|
|
NM_020320.5(RARS2):c.685C>T (p.Arg229Ter)
|
rs769473411
|
0.00001
|
|
NM_020320.5(RARS2):c.879-1G>C
|
rs1428801547
|
0.00001
|
|
NM_020347.4(LZTFL1):c.253C>T (p.Arg85Ter)
|
rs1374806070
|
0.00001
|
|
NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala)
|
rs752636698
|
0.00001
|
|
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)
|
rs535695411
|
0.00001
|
|
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter)
|
rs577932201
|
0.00001
|
|
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs)
|
rs745741473
|
0.00001
|
|
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)
|
rs1429786931
|
0.00001
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
0.00001
|
|
NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter)
|
rs749969789
|
0.00001
|
|
NM_020401.4(NUP107):c.303G>A (p.Met101Ile)
|
rs730882216
|
0.00001
|
|
NM_020435.4(GJC2):c.268C>T (p.Pro90Ser)
|
rs74315312
|
0.00001
|
|
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs)
|
rs1085307499
|
0.00001
|
|
NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter)
|
rs778868393
|
0.00001
|
|
NM_020458.4(TTC7A):c.1288-1G>T
|
rs568082272
|
0.00001
|
|
NM_020458.4(TTC7A):c.1621C>T (p.Gln541Ter)
|
rs765653721
|
0.00001
|
|
NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro)
|
rs587776972
|
0.00001
|
|
NM_020458.4(TTC7A):c.2494G>A (p.Ala832Thr)
|
rs876657393
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.1519C>T (p.Gln507Ter)
|
rs1260456579
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.1833+1G>A
|
rs886041788
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter)
|
rs724159975
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.2221_2222del (p.Arg741fs)
|
rs951221380
|
0.00001
|
|
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)
|
rs121908374
|
0.00001
|
|
NM_020533.3(MCOLN1):c.405+1G>A
|
rs148748724
|
0.00001
|
|
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)
|
rs767122713
|
0.00001
|
|
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)
|
rs121908371
|
0.00001
|
|
NM_020533.3(MCOLN1):c.984+1G>A
|
rs767950930
|
0.00001
|
|
NM_020547.3(AMHR2):c.502G>A (p.Ala168Thr)
|
rs374601719
|
0.00001
|
|
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
|
rs746595362
|
0.00001
|
|
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys)
|
rs121912822
|
0.00001
|
|
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)
|
rs121912816
|
0.00001
|
|
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter)
|
rs371470622
|
0.00001
|
|
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu)
|
rs121912817
|
0.00001
|
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
|
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter)
|
rs1458796820
|
0.00001
|
|
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)
|
rs1199089543
|
0.00001
|
|
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)
|
rs1443883930
|
0.00001
|
|
NM_020632.3(ATP6V0A4):c.1418C>T (p.Ser473Phe)
|
rs755992691
|
0.00001
|
|
NM_020632.3(ATP6V0A4):c.1691+1G>A
|
rs587776615
|
0.00001
|
|
NM_020632.3(ATP6V0A4):c.2419C>T (p.Arg807Ter)
|
rs769164245
|
0.00001
|
|
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln)
|
rs28939081
|
0.00001
|
|
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly)
|
rs104894342
|
0.00001
|
|
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln)
|
rs724159992
|
0.00001
|
|
NM_020738.4(KIDINS220):c.3374dup (p.Tyr1125Ter)
|
rs1438054052
|
0.00001
|
|
NM_020745.4(AARS2):c.2598+1G>T
|
rs768351915
|
0.00001
|
|
NM_020778.5(ALPK3):c.4213C>T (p.Arg1405Ter)
|
rs1344615174
|
0.00001
|
|
NM_020778.5(ALPK3):c.4768C>T (p.Arg1590Ter)
|
rs541612157
|
0.00001
|
|
NM_020778.5(ALPK3):c.835G>T (p.Glu279Ter)
|
rs370072439
|
0.00001
|
|
NM_020779.4(WDR35):c.1400+3A>G
|
rs776631281
|
0.00001
|
|
NM_020779.4(WDR35):c.1468del (p.Gln490fs)
|
rs886044119
|
0.00001
|
|
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)
|
rs765513105
|
0.00001
|
|
NM_020800.3(IFT80):c.2048G>T (p.Gly683Val)
|
rs1302753011
|
0.00001
|
|
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His)
|
rs1023136319
|
0.00001
|
|
NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter)
|
rs978336151
|
0.00001
|
|
NM_020877.5(DNAH2):c.5770C>T (p.Arg1924Cys)
|
rs773343805
|
0.00001
|
|
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter)
|
rs757972700
|
0.00001
|
|
NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)
|
rs759378949
|
0.00001
|
|
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs)
|
rs757391108
|
0.00001
|
|
NM_020944.3(GBA2):c.2202del (p.Tyr735fs)
|
rs1448182827
|
0.00001
|
|
NM_020944.3(GBA2):c.700C>T (p.Arg234Ter)
|
rs398123013
|
0.00001
|
|
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter)
|
rs961245497
|
0.00001
|
|
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter)
|
rs866435487
|
0.00001
|
|
NM_020964.3(EPG5):c.5869+1G>A
|
rs748670315
|
0.00001
|
|
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter)
|
rs780889226
|
0.00001
|
|
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter)
|
rs863225064
|
0.00001
|
|
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter)
|
rs767638289
|
0.00001
|
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
|
NM_020975.6(RET):c.2752A>G (p.Met918Val)
|
rs377767442
|
0.00001
|
|
NM_021008.4(DEAF1):c.1450C>T (p.Arg484Ter)
|
rs949860707
|
0.00001
|
|
NM_021008.4(DEAF1):c.553C>T (p.Gln185Ter)
|
rs1860672898
|
0.00001
|
|
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr)
|
rs376610445
|
0.00001
|
|
NM_021175.4(HAMP):c.-25G>A
|
rs944843686
|
0.00001
|
|
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)
|
rs773618224
|
0.00001
|
|
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)
|
rs1375601977
|
0.00001
|
|
NM_021615.5(CHST6):c.827T>C (p.Leu276Pro)
|
rs121917824
|
0.00001
|
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
|
NM_021628.3(ALOXE3):c.952dup (p.Leu318fs)
|
rs1472087421
|
0.00001
|
|
NM_021800.3(DNAJC12):c.484C>T (p.Gln162Ter)
|
rs753374676
|
0.00001
|
|
NM_021800.3(DNAJC12):c.85del (p.Gln29fs)
|
rs770562664
|
0.00001
|
|
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter)
|
rs267606866
|
0.00001
|
|
NM_021828.5(HPSE2):c.457C>T (p.Arg153Ter)
|
rs267606865
|
0.00001
|
|
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp)
|
rs267606682
|
0.00001
|
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
|
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)
|
rs386834146
|
0.00001
|
|
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln)
|
rs137852956
|
0.00001
|
|
NM_021830.5(TWNK):c.967C>T (p.Arg323Ter)
|
rs863223919
|
0.00001
|
|
NM_021870.2(FGG):c.902G>A (p.Arg301His)
|
rs121913088
|
0.00001
|
|
NM_021871.4(FGA):c.1634A>T (p.Glu545Val)
|
rs121909612
|
0.00001
|
|
NM_021871.4(FGA):c.532C>T (p.Arg178Ter)
|
rs140911890
|
0.00001
|
|
NM_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
|
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)
|
rs752690798
|
0.00001
|
|
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)
|
rs121434506
|
0.00001
|
|
NM_021922.3(FANCE):c.635del (p.Glu212fs)
|
rs1408598940
|
0.00001
|
|
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter)
|
rs760150539
|
0.00001
|
|
NM_021939.4(FKBP10):c.1621C>T (p.Gln541Ter)
|
rs782682320
|
0.00001
|
|
NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys)
|
rs397514674
|
0.00001
|
|
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln)
|
rs387906960
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.100C>T (p.Arg34Ter)
|
rs569565392
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.1348C>T (p.Arg450Ter)
|
rs770361045
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.1522C>T (p.Gln508Ter)
|
rs1234694300
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)
|
rs397509417
|
0.00001
|
|
NM_021957.4(GYS2):c.1062+1G>T
|
rs781511110
|
0.00001
|
|
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)
|
rs397509425
|
0.00001
|
|
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys)
|
rs119485088
|
0.00001
|
|
NM_022041.4(GAN):c.851+1G>A
|
rs747291494
|
0.00001
|
|
NM_022081.6(HPS4):c.706+1G>A
|
rs374343385
|
0.00001
|
|
NM_022089.4(ATP13A2):c.2529+1G>A
|
rs776448394
|
0.00001
|
|
NM_022098.4(XPNPEP3):c.645del (p.Ser216fs)
|
rs751910922
|
0.00001
|
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
0.00001
|
|
NM_022124.6(CDH23):c.4783G>A (p.Glu1595Lys)
|
rs778204574
|
0.00001
|
|
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)
|
rs397517342
|
0.00001
|
|
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer)
|
rs1278603247
|
0.00001
|
|
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)
|
rs121908355
|
0.00001
|
|
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)
|
rs1413464990
|
0.00001
|
|
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter)
|
rs751393852
|
0.00001
|
|
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)
|
rs766045910
|
0.00001
|
|
NM_022132.5(MCCC2):c.1371T>A (p.Tyr457Ter)
|
rs764213364
|
0.00001
|
|
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)
|
rs780304038
|
0.00001
|
|
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)
|
rs767575019
|
0.00001
|
|
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
|
rs774241918
|
0.00001
|
|
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)
|
rs760881963
|
0.00001
|
|
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter)
|
rs1304896406
|
0.00001
|
|
NM_022132.5(MCCC2):c.281+5G>A
|
rs944539388
|
0.00001
|
|
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)
|
rs119103220
|
0.00001
|
|
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
|
rs119103222
|
0.00001
|
|
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)
|
rs780011606
|
0.00001
|
|
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)
|
rs774180632
|
0.00001
|
|
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)
|
rs766753795
|
0.00001
|
|
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)
|
rs119103226
|
0.00001
|
|
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)
|
rs727504010
|
0.00001
|
|
NM_022336.4(EDAR):c.266G>A (p.Arg89His)
|
rs121908450
|
0.00001
|
|
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)
|
rs557166582
|
0.00001
|
|
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter)
|
rs752575140
|
0.00001
|
|
NM_022356.4(P3H1):c.1170+5G>C
|
rs72659353
|
0.00001
|
|
NM_022356.4(P3H1):c.1345+1G>A
|
rs780595278
|
0.00001
|
|
NM_022356.4(P3H1):c.392C>A (p.Ser131Ter)
|
rs72659347
|
0.00001
|
|
NM_022356.4(P3H1):c.640C>T (p.Arg214Ter)
|
rs200899260
|
0.00001
|
|
NM_022356.4(P3H1):c.874C>T (p.Arg292Ter)
|
rs773269078
|
0.00001
|
|
NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp)
|
rs121918277
|
0.00001
|
|
NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter)
|
rs119479065
|
0.00001
|
|
NM_022436.3(ABCG5):c.64C>T (p.Gln22Ter)
|
rs781098379
|
0.00001
|
|
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter)
|
rs544500542
|
0.00001
|
|
NM_022437.3(ABCG8):c.811C>T (p.Gln271Ter)
|
rs371646728
|
0.00001
|
|
NM_022437.3(ABCG8):c.965-1G>C
|
rs957176669
|
0.00001
|
|
NM_022445.4(TPK1):c.656A>G (p.Asn219Ser)
|
rs371271054
|
0.00001
|
|
NM_022464.5(SIL1):c.645+2T>C
|
rs548535414
|
0.00001
|
|
NM_022489.4(INF2):c.641G>A (p.Arg214His)
|
rs267606879
|
0.00001
|
|
NM_022552.5(DNMT3A):c.2063G>A (p.Arg688His)
|
rs369713081
|
0.00001
|
|
NM_022726.4(ELOVL4):c.646C>T (p.Arg216Ter)
|
rs387906916
|
0.00001
|
|
NM_022773.4(LMF1):c.359C>G (p.Ser120Ter)
|
rs768161861
|
0.00001
|
|
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter)
|
rs2072617381
|
0.00001
|
|
NM_022773.4(LMF1):c.697C>T (p.Arg233Ter)
|
rs199953320
|
0.00001
|
|
NM_022773.4(LMF1):c.862del (p.Cys288fs)
|
rs778522733
|
0.00001
|
|
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)
|
rs372066126
|
0.00001
|
|
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)
|
rs748902766
|
0.00001
|
|
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)
|
rs375110174
|
0.00001
|
|
NM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp)
|
rs767748011
|
0.00001
|
|
NM_023036.6(DNAI2):c.1288G>A (p.Gly430Arg)
|
rs765285682
|
0.00001
|
|
NM_023036.6(DNAI2):c.1414C>T (p.Gln472Ter)
|
rs756868374
|
0.00001
|
|
NM_023036.6(DNAI2):c.1429dup (p.Thr477fs)
|
rs1567876609
|
0.00001
|
|
NM_023036.6(DNAI2):c.1494+1G>A
|
rs397515565
|
0.00001
|
|
NM_023036.6(DNAI2):c.421G>T (p.Glu141Ter)
|
rs772133192
|
0.00001
|
|
NM_023036.6(DNAI2):c.718C>T (p.Gln240Ter)
|
rs780116486
|
0.00001
|
|
NM_023036.6(DNAI2):c.740G>A (p.Arg247Gln)
|
rs755060592
|
0.00001
|
|
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp)
|
rs121908359
|
0.00001
|
|
NM_023077.3(COA7):c.17A>G (p.Asp6Gly)
|
rs780572767
|
0.00001
|
|
NM_024057.4(NUP37):c.916C>T (p.Arg306Ter)
|
rs746341112
|
0.00001
|
|
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val)
|
rs777812455
|
0.00001
|
|
NM_024079.5(ALG8):c.309dup (p.Leu104fs)
|
rs2497114146
|
0.00001
|
|
NM_024101.7(MLPH):c.103C>T (p.Arg35Trp)
|
rs119473031
|
0.00001
|
|
NM_024101.7(MLPH):c.104G>A (p.Arg35Gln)
|
rs786205551
|
0.00001
|
|
NM_024105.4(ALG12):c.301G>A (p.Gly101Arg)
|
rs121907933
|
0.00001
|
|
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr)
|
rs531254130
|
0.00001
|
|
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter)
|
rs368690277
|
0.00001
|
|
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro)
|
rs118203929
|
0.00001
|
|
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)
|
rs757043077
|
0.00001
|
|
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
|
rs104894681
|
0.00001
|
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
|
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)
|
rs770711331
|
0.00001
|
|
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)
|
rs104894692
|
0.00001
|
|
NM_024306.5(FA2H):c.379C>T (p.Arg127Ter)
|
rs1210045384
|
0.00001
|
|
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)
|
rs387907040
|
0.00001
|
|
NM_024306.5(FA2H):c.589C>T (p.Arg197Ter)
|
rs1463651673
|
0.00001
|
|
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)
|
rs387907039
|
0.00001
|
|
NM_024306.5(FA2H):c.806G>A (p.Arg269His)
|
rs1429546236
|
0.00001
|
|
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)
|
rs281864969
|
0.00001
|
|
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)
|
rs34159654
|
0.00001
|
|
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)
|
rs281864980
|
0.00001
|
|
NM_024312.5(GNPTAB):c.2072_2073insG (p.Glu692fs)
|
rs1043530261
|
0.00001
|
|
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys)
|
rs769587233
|
0.00001
|
|
NM_024339.5(THOC6):c.136G>A (p.Gly46Arg)
|
rs587777030
|
0.00001
|
|
NM_024411.5(PDYN):c.634C>T (p.Arg212Trp)
|
rs201486601
|
0.00001
|
|
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter)
|
rs794728075
|
0.00001
|
|
NM_024422.6(DSC2):c.34_35del (p.Gly12fs)
|
rs1395367133
|
0.00001
|
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
|
NM_024494.3(WNT2B):c.205C>T (p.Arg69Ter)
|
rs370244148
|
0.00001
|
|
NM_024514.5(CYP2R1):c.367+1G>A
|
rs202011621
|
0.00001
|
|
NM_024537.4(CARS2):c.649_651del (p.Glu217del)
|
rs753472937
|
0.00001
|
|
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr)
|
rs727505361
|
0.00001
|
|
NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter)
|
rs75326546
|
0.00001
|
|
NM_024570.4(RNASEH2B):c.488C>T (p.Thr163Ile)
|
rs79310911
|
0.00001
|
|
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)
|
rs80338930
|
0.00001
|
|
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462
|
0.00001
|
|
NM_024577.4(SH3TC2):c.386-2A>C
|
rs145670786
|
0.00001
|
|
NM_024577.4(SH3TC2):c.805+2T>C
|
rs139052887
|
0.00001
|
|
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter)
|
rs1754320158
|
0.00001
|
|
NM_024580.6(EFL1):c.379A>G (p.Thr127Ala)
|
rs1441937959
|
0.00001
|
|
NM_024589.3(ROGDI):c.117+1G>A
|
rs570952151
|
0.00001
|
|
NM_024592.5(SRD5A3):c.562+3del
|
rs752307253
|
0.00001
|
|
NM_024593.4(CLXN):c.292C>T (p.Arg98Ter)
|
rs751867551
|
0.00001
|
|
NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu)
|
rs387906961
|
0.00001
|
|
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)
|
rs1014835928
|
0.00001
|
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
|
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)
|
rs773632109
|
0.00001
|
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
|
NM_024649.5(BBS1):c.48-2A>C
|
rs764245266
|
0.00001
|
|
NM_024649.5(BBS1):c.830G>A (p.Arg277Lys)
|
rs1856209517
|
0.00001
|
|
NM_024649.5(BBS1):c.951+1G>A
|
rs746875134
|
0.00001
|
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
|
NM_024675.4(PALB2):c.156del (p.Glu53fs)
|
rs587776406
|
0.00001
|
|
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)
|
rs118203997
|
0.00001
|
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
rs764509489
|
0.00001
|
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
|
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)
|
rs180177122
|
0.00001
|
|
NM_024675.4(PALB2):c.3113+5G>C
|
rs876659463
|
0.00001
|
|
NM_024675.4(PALB2):c.3201+1G>T
|
rs587776423
|
0.00001
|
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
|
NM_024685.4(BBS10):c.1184dup (p.His395fs)
|
rs786204573
|
0.00001
|
|
NM_024685.4(BBS10):c.118A>T (p.Lys40Ter)
|
rs202228478
|
0.00001
|
|
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)
|
rs786204575
|
0.00001
|
|
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)
|
rs898539189
|
0.00001
|
|
NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)
|
rs778431173
|
0.00001
|
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
|
NM_024700.4(SNIP1):c.1097A>G (p.Glu366Gly)
|
rs387906986
|
0.00001
|
|
NM_024740.2(ALG9):c.1225del (p.Arg409fs)
|
rs1324062430
|
0.00001
|
|
NM_024740.2(ALG9):c.566-1G>A
|
rs782379446
|
0.00001
|
|
NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter)
|
rs281865112
|
0.00001
|
|
NM_024747.6(HPS6):c.466_475dup (p.Phe159fs)
|
rs1462863412
|
0.00001
|
|
NM_024747.6(HPS6):c.779G>A (p.Gly260Glu)
|
rs1478574193
|
0.00001
|
|
NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp)
|
rs1553516687
|
0.00001
|
|
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter)
|
rs1183062277
|
0.00001
|
|
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter)
|
rs779134983
|
0.00001
|
|
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro)
|
rs759086770
|
0.00001
|
|
NM_024809.5(TCTN2):c.1506-2A>G
|
rs374349989
|
0.00001
|
|
NM_024809.5(TCTN2):c.1626del (p.Asp543fs)
|
rs863225220
|
0.00001
|
|
NM_024809.5(TCTN2):c.1888_1889del (p.Leu630fs)
|
rs1408997904
|
0.00001
|
|
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter)
|
rs754596743
|
0.00001
|
|
NM_024818.6(UBA5):c.169A>G (p.Met57Val)
|
rs532178791
|
0.00001
|
|
NM_024876.4(COQ8B):c.893+2T>A
|
rs759259550
|
0.00001
|
|
NM_024884.3(L2HGDH):c.1003C>T (p.Arg335Ter)
|
rs387907013
|
0.00001
|
|
NM_024884.3(L2HGDH):c.256+1G>A
|
rs150299874
|
0.00001
|
|
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu)
|
rs118204020
|
0.00001
|
|
NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter)
|
rs755341613
|
0.00001
|
|
NM_024989.4(PGAP1):c.691C>T (p.Arg231Ter)
|
rs1364192556
|
0.00001
|
|
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter)
|
rs766234016
|
0.00001
|
|
NM_024996.7(GFM1):c.409G>A (p.Val137Met)
|
rs767325554
|
0.00001
|
|
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)
|
rs774456344
|
0.00001
|
|
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)
|
rs863224032
|
0.00001
|
|
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)
|
rs139430866
|
0.00001
|
|
NM_025009.5(CEP135):c.3247C>T (p.Arg1083Ter)
|
rs1730945388
|
0.00001
|
|
NM_025074.7(FRAS1):c.10261C>T (p.Arg3421Ter)
|
rs201947516
|
0.00001
|
|
NM_025074.7(FRAS1):c.10948C>T (p.Gln3650Ter)
|
rs878853009
|
0.00001
|
|
NM_025074.7(FRAS1):c.2570G>T (p.Cys857Phe)
|
rs1399826348
|
0.00001
|
|
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter)
|
rs755750961
|
0.00001
|
|
NM_025074.7(FRAS1):c.2722+1G>A
|
rs794727365
|
0.00001
|
|
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter)
|
rs1733155852
|
0.00001
|
|
NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter)
|
rs753263924
|
0.00001
|
|
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser)
|
rs771251344
|
0.00001
|
|
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter)
|
rs777438557
|
0.00001
|
|
NM_025074.7(FRAS1):c.7285C>T (p.Arg2429Ter)
|
rs760890625
|
0.00001
|
|
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter)
|
rs745597204
|
0.00001
|
|
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr)
|
rs371848318
|
0.00001
|
|
NM_025077.4(TOE1):c.518T>G (p.Val173Gly)
|
rs777030573
|
0.00001
|
|
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp)
|
rs373905859
|
0.00001
|
|
NM_025099.6(CTC1):c.775G>A (p.Val259Met)
|
rs387907080
|
0.00001
|
|
NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)
|
rs1391036863
|
0.00001
|
|
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter)
|
rs751583919
|
0.00001
|
|
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter)
|
rs1170451277
|
0.00001
|
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
|
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
|
rs762633090
|
0.00001
|
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
|
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)
|
rs757641323
|
0.00001
|
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
|
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg)
|
rs1215108056
|
0.00001
|
|
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter)
|
rs772599282
|
0.00001
|
|
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)
|
rs1568413644
|
0.00001
|
|
NM_025137.4(SPG11):c.2316+1G>A
|
rs312262740
|
0.00001
|
|
NM_025137.4(SPG11):c.2317-13C>G
|
rs372670941
|
0.00001
|
|
NM_025137.4(SPG11):c.2444G>A (p.Arg815Lys)
|
rs312262742
|
0.00001
|
|
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)
|
rs372906057
|
0.00001
|
|
NM_025137.4(SPG11):c.4075del (p.Ile1359fs)
|
rs1405032433
|
0.00001
|
|
NM_025137.4(SPG11):c.5398C>T (p.Gln1800Ter)
|
rs1287370710
|
0.00001
|
|
NM_025137.4(SPG11):c.5972del (p.Cys1991fs)
|
rs2082503070
|
0.00001
|
|
NM_025137.4(SPG11):c.6205+1G>A
|
rs753650233
|
0.00001
|
|
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)
|
rs769898852
|
0.00001
|
|
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)
|
rs371334506
|
0.00001
|
|
NM_025137.4(SPG11):c.7150A>T (p.Lys2384Ter)
|
rs1555446078
|
0.00001
|
|
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu)
|
rs767519084
|
0.00001
|
|
NM_025150.5(TARS2):c.387+6T>C
|
rs1064797119
|
0.00001
|
|
NM_025150.5(TARS2):c.695+3A>G
|
rs587777594
|
0.00001
|
|
NM_025152.3(NUBPL):c.693+1G>A
|
rs751631278
|
0.00001
|
|
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp)
|
rs869025309
|
0.00001
|
|
NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys)
|
rs764658964
|
0.00001
|
|
NM_025216.3(WNT10A):c.910A>C (p.Asn304His)
|
rs1434390821
|
0.00001
|
|
NM_025233.7(COASY):c.1486-3C>G
|
rs577714887
|
0.00001
|
|
NM_025233.7(COASY):c.641C>T (p.Ala214Val)
|
rs1567904066
|
0.00001
|
|
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs)
|
rs1559252723
|
0.00001
|
|
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs)
|
rs775835429
|
0.00001
|
|
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu)
|
rs764053964
|
0.00001
|
|
NM_030653.4(DDX11):c.1949-1G>A
|
rs779058797
|
0.00001
|
|
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys)
|
rs763220502
|
0.00001
|
|
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)
|
rs80358230
|
0.00001
|
|
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)
|
rs1015798796
|
0.00001
|
|
NM_030777.4(SLC2A10):c.899T>G (p.Leu300Trp)
|
rs771702107
|
0.00001
|
|
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)
|
rs776679653
|
0.00001
|
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00001
|
|
NM_030954.4(RNF170):c.396+3A>G
|
rs1159600703
|
0.00001
|
|
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs)
|
rs730880330
|
0.00001
|
|
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter)
|
rs774005569
|
0.00001
|
|
NM_031421.5(ODAD4):c.397+1G>A
|
rs1555637675
|
0.00001
|
|
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter)
|
rs1243587288
|
0.00001
|
|
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)
|
rs515726205
|
0.00001
|
|
NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu)
|
rs201987973
|
0.00001
|
|
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter)
|
rs121918297
|
0.00001
|
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
|
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)
|
rs201063733
|
0.00001
|
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
|
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)
|
rs121908174
|
0.00001
|
|
NM_031885.5(BBS2):c.471G>A (p.Thr157=)
|
rs749983428
|
0.00001
|
|
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu)
|
rs767373822
|
0.00001
|
|
NM_031885.5(BBS2):c.563del (p.Ile188fs)
|
rs1367927635
|
0.00001
|
|
NM_031885.5(BBS2):c.717+1G>A
|
rs1047075022
|
0.00001
|
|
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter)
|
rs1603342313
|
0.00001
|
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
|
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)
|
rs587782574
|
0.00001
|
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
0.00001
|
|
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs)
|
rs752780954
|
0.00001
|
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
|
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
|
rs1412610651
|
0.00001
|
|
NM_032119.4(ADGRV1):c.1054C>A (p.Pro352Thr)
|
rs755371825
|
0.00001
|
|
NM_032119.4(ADGRV1):c.12211C>T (p.Arg4071Ter)
|
rs1163308590
|
0.00001
|
|
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp)
|
rs1131691924
|
0.00001
|
|
NM_032119.4(ADGRV1):c.14366G>A (p.Arg4789Gln)
|
rs765849229
|
0.00001
|
|
NM_032119.4(ADGRV1):c.14972+1G>T
|
rs780011571
|
0.00001
|
|
NM_032119.4(ADGRV1):c.14975C>G (p.Ser4992Ter)
|
rs900228710
|
0.00001
|
|
NM_032119.4(ADGRV1):c.18025C>T (p.Arg6009Ter)
|
rs1462031084
|
0.00001
|
|
NM_032119.4(ADGRV1):c.4378G>A (p.Gly1460Ser)
|
rs1303930496
|
0.00001
|
|
NM_032119.4(ADGRV1):c.4441C>T (p.Gln1481Ter)
|
rs973342972
|
0.00001
|
|
NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter)
|
rs758718347
|
0.00001
|
|
NM_032119.4(ADGRV1):c.9907-1G>A
|
rs769286352
|
0.00001
|
|
NM_032122.5(DTNBP1):c.664C>T (p.Arg222Ter)
|
rs367702294
|
0.00001
|
|
NM_032237.5(POMK):c.10C>T (p.Gln4Ter)
|
rs202006335
|
0.00001
|
|
NM_032383.5(HPS3):c.2482-2A>G
|
rs397507168
|
0.00001
|
|
NM_032383.5(HPS3):c.2589+2T>C
|
rs1411572278
|
0.00001
|
|
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
|
rs1265030199
|
0.00001
|
|
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)
|
rs760126773
|
0.00001
|
|
NM_032520.5(GNPTG):c.233+1G>A
|
rs376679416
|
0.00001
|
|
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)
|
rs137852885
|
0.00001
|
|
NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala)
|
rs782072593
|
0.00001
|
|
NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro)
|
rs104894703
|
0.00001
|
|
NM_032578.4(MYPN):c.2986C>T (p.Arg996Ter)
|
rs753094063
|
0.00001
|
|
NM_032581.4(HYCC1):c.639del (p.Cys213fs)
|
rs1784456196
|
0.00001
|
|
NM_032607.3(CREB3L3):c.138G>A (p.Trp46Ter)
|
rs912378886
|
0.00001
|
|
NM_032607.3(CREB3L3):c.610C>T (p.Arg204Ter)
|
rs376781216
|
0.00001
|
|
NM_032620.4(GTPBP3):c.17G>A (p.Trp6Ter)
|
rs756394857
|
0.00001
|
|
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe)
|
rs142164373
|
0.00001
|
|
NM_032635.4(TMEM147):c.344+5G>A
|
rs749966973
|
0.00001
|
|
NM_032635.4(TMEM147):c.540_543dup (p.Val182fs)
|
rs781371223
|
0.00001
|
|
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)
|
rs1426175410
|
0.00001
|
|
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)
|
rs1391712320
|
0.00001
|
|
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter)
|
rs752764598
|
0.00001
|
|
NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn)
|
rs768063378
|
0.00001
|
|
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)
|
rs797045105
|
0.00001
|
|
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)
|
rs387907236
|
0.00001
|
|
NM_032930.3(CFAP300):c.776A>G (p.His259Arg)
|
rs1555071691
|
0.00001
|
|
NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs)
|
rs2065896039
|
0.00001
|
|
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)
|
rs28938468
|
0.00001
|
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
|
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)
|
rs747516133
|
0.00001
|
|
NM_033100.4(CDHR1):c.1342dup (p.Thr448fs)
|
rs750895925
|
0.00001
|
|
NM_033109.5(PNPT1):c.1849C>T (p.Arg617Ter)
|
rs992877769
|
0.00001
|
|
NM_033159.4(HYAL1):c.390G>A (p.Trp130Ter)
|
rs1386542234
|
0.00001
|
|
NM_033159.4(HYAL1):c.546G>A (p.Trp182Ter)
|
rs1553713200
|
0.00001
|
|
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs)
|
rs1702201097
|
0.00001
|
|
NM_033198.4(PIGS):c.108G>A (p.Trp36Ter)
|
rs1263517814
|
0.00001
|
|
NM_033305.3(VPS13A):c.6700C>T (p.Arg2234Ter)
|
rs748922513
|
0.00001
|
|
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)
|
rs1055609567
|
0.00001
|
|
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys)
|
rs121912642
|
0.00001
|
|
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)
|
rs104886111
|
0.00001
|
|
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)
|
rs104886237
|
0.00001
|
|
NM_033380.3(COL4A5):c.412G>A (p.Gly138Ser)
|
rs767619131
|
0.00001
|
|
NM_033440.3(CELA2A):c.253C>A (p.Leu85Met)
|
rs558493952
|
0.00001
|
|
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter)
|
rs78218009
|
0.00001
|
|
NM_052844.4(DYNC2I2):c.1061C>T (p.Thr354Met)
|
rs587777092
|
0.00001
|
|
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser)
|
rs587777096
|
0.00001
|
|
NM_052844.4(DYNC2I2):c.1397A>C (p.Gln466Pro)
|
rs1554770620
|
0.00001
|
|
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)
|
rs778169806
|
0.00001
|
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00001
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
0.00001
|
|
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)
|
rs749758687
|
0.00001
|
|
NM_052845.4(MMAB):c.584G>A (p.Arg195His)
|
rs756195708
|
0.00001
|
|
NM_052845.4(MMAB):c.625G>A (p.Val209Met)
|
rs200903284
|
0.00001
|
|
NM_052865.4(MGME1):c.456G>A (p.Trp152Ter)
|
rs587776943
|
0.00001
|
|
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr)
|
rs879253780
|
0.00001
|
|
NM_052988.5(CDK10):c.520_521del (p.Lys174fs)
|
rs1567520269
|
0.00001
|
|
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter)
|
rs1185183557
|
0.00001
|
|
NM_052989.3(IFT122):c.356G>A (p.Trp119Ter)
|
rs1300189424
|
0.00001
|
|
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)
|
rs786204537
|
0.00001
|
|
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)
|
rs771937610
|
0.00001
|
|
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)
|
rs1554725724
|
0.00001
|
|
NM_054012.4(ASS1):c.174+1G>A
|
rs748264993
|
0.00001
|
|
NM_054012.4(ASS1):c.174+1G>T
|
rs748264993
|
0.00001
|
|
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)
|
rs121908644
|
0.00001
|
|
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)
|
rs770944877
|
0.00001
|
|
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)
|
rs771794639
|
0.00001
|
|
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)
|
rs121908636
|
0.00001
|
|
NM_054012.4(ASS1):c.496-2A>G
|
rs398123130
|
0.00001
|
|
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)
|
rs121908643
|
0.00001
|
|
NM_054012.4(ASS1):c.689-2A>C
|
rs374586230
|
0.00001
|
|
NM_054012.4(ASS1):c.773+49C>T
|
rs763389916
|
0.00001
|
|
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)
|
rs148918985
|
0.00001
|
|
NM_054012.4(ASS1):c.794G>A (p.Arg265His)
|
rs398123131
|
0.00001
|
|
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)
|
rs775163147
|
0.00001
|
|
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)
|
rs121908645
|
0.00001
|
|
NM_054012.4(ASS1):c.838+1G>T
|
rs750214431
|
0.00001
|
|
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)
|
rs121908648
|
0.00001
|
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
|
NM_057175.5(NAA15):c.239_240del (p.His80fs)
|
rs779009256
|
0.00001
|
|
NM_057176.3(BSND):c.28G>A (p.Gly10Ser)
|
rs74315287
|
0.00001
|
|
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys)
|
rs1351749039
|
0.00001
|
|
NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg)
|
rs781637328
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+2T>C
|
rs730881931
|
0.00001
|
|
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)
|
rs267606999
|
0.00001
|
|
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)
|
rs765730332
|
0.00001
|
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-2A>C
|
rs779582317
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-2del
|
rs876658652
|
0.00001
|
|
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)
|
rs8766588714
|
0.00001
|
|
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp)
|
rs730881932
|
0.00001
|
|
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)
|
rs587782528
|
0.00001
|
|
NM_078470.6(COX15):c.272+2T>G
|
rs777659902
|
0.00001
|
|
NM_078470.6(COX15):c.305G>A (p.Trp102Ter)
|
rs778412019
|
0.00001
|
|
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter)
|
rs1011767398
|
0.00001
|
|
NM_080675.4(SUN5):c.1066C>T (p.Arg356Cys)
|
rs754130052
|
0.00001
|
|
NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter)
|
rs374156844
|
0.00001
|
|
NM_080680.3(COL11A2):c.2554C>T (p.Arg852Ter)
|
rs1387164225
|
0.00001
|
|
NM_080680.3(COL11A2):c.3958C>T (p.Arg1320Ter)
|
rs1206475365
|
0.00001
|
|
NM_080916.3(DGUOK):c.494A>T (p.Glu165Val)
|
rs770950831
|
0.00001
|
|
NM_130466.4(UBE3B):c.730C>T (p.Gln244Ter)
|
rs750360032
|
0.00001
|
|
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro)
|
rs121908257
|
0.00001
|
|
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys)
|
rs121908258
|
0.00001
|
|
NM_130810.4(DNAAF4):c.733C>T (p.Arg245Ter)
|
rs748440695
|
0.00001
|
|
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter)
|
rs397515621
|
0.00001
|
|
NM_130837.3(OPA1):c.1936-2A>G
|
rs747454971
|
0.00001
|
|
NM_133259.4(LRPPRC):c.1582+7A>G
|
rs863225446
|
0.00001
|
|
NM_133259.4(LRPPRC):c.864+2T>C
|
rs863224053
|
0.00001
|
|
NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys)
|
rs727503062
|
0.00001
|
|
NM_133443.4(GPT2):c.274C>T (p.Arg92Ter)
|
rs190315044
|
0.00001
|
|
NM_133497.4(KCNV2):c.958C>T (p.Arg320Cys)
|
rs754275640
|
0.00001
|
|
NM_138295.5(PKD1L1):c.6587G>A (p.Trp2196Ter)
|
rs769346811
|
0.00001
|
|
NM_138376.3(TTC5):c.787C>T (p.Arg263Ter)
|
rs199831317
|
0.00001
|
|
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)
|
rs1419840309
|
0.00001
|
|
NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro)
|
rs267606763
|
0.00001
|
|
NM_138413.4(HOGA1):c.290G>A (p.Arg97His)
|
rs752252343
|
0.00001
|
|
NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile)
|
rs756489804
|
0.00001
|
|
NM_138413.4(HOGA1):c.875T>C (p.Met292Thr)
|
rs796052087
|
0.00001
|
|
NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser)
|
rs777046879
|
0.00001
|
|
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)
|
rs730882213
|
0.00001
|
|
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp)
|
rs80338696
|
0.00001
|
|
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)
|
rs121908073
|
0.00001
|
|
NM_138691.3(TMC1):c.1334G>A (p.Arg445His)
|
rs760532554
|
0.00001
|
|
NM_138691.3(TMC1):c.1810C>T (p.Arg604Ter)
|
rs777777359
|
0.00001
|
|
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro)
|
rs138527651
|
0.00001
|
|
NM_138691.3(TMC1):c.582G>A (p.Trp194Ter)
|
rs1172357346
|
0.00001
|
|
NM_138691.3(TMC1):c.804G>A (p.Trp268Ter)
|
rs1263141648
|
0.00001
|
|
NM_138694.4(PKHD1):c.10774C>T (p.Gln3592Ter)
|
rs1454977903
|
0.00001
|
|
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
|
NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter)
|
rs746471701
|
0.00001
|
|
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs)
|
rs747170980
|
0.00001
|
|
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)
|
rs761704401
|
0.00001
|
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
|
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)
|
rs786204749
|
0.00001
|
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
|
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter)
|
rs759322460
|
0.00001
|
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
|
NM_138694.4(PKHD1):c.1964+1G>T
|
rs1385712943
|
0.00001
|
|
NM_138694.4(PKHD1):c.2171C>G (p.Pro724Arg)
|
rs1229139298
|
0.00001
|
|
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser)
|
rs727504090
|
0.00001
|
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
|
NM_138694.4(PKHD1):c.2310dup (p.Ser771fs)
|
rs767737392
|
0.00001
|
|
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter)
|
rs371928571
|
0.00001
|
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
0.00001
|
|
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)
|
rs747895516
|
0.00001
|
|
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs)
|
rs797044713
|
0.00001
|
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00001
|
|
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr)
|
rs375437755
|
0.00001
|
|
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)
|
rs794727566
|
0.00001
|
|
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
|
rs761046498
|
0.00001
|
|
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)
|
rs137852946
|
0.00001
|
|
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)
|
rs774759689
|
0.00001
|
|
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)
|
rs777999875
|
0.00001
|
|
NM_138694.4(PKHD1):c.5751+3A>G
|
rs1581726525
|
0.00001
|
|
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter)
|
rs1313206550
|
0.00001
|
|
NM_138694.4(PKHD1):c.5909-46_5943del
|
rs2127769312
|
0.00001
|
|
NM_138694.4(PKHD1):c.603-2A>G
|
rs757521428
|
0.00001
|
|
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser)
|
rs749454235
|
0.00001
|
|
NM_138694.4(PKHD1):c.6808+1G>T
|
rs1217968843
|
0.00001
|
|
NM_138694.4(PKHD1):c.707+1G>A
|
rs748365248
|
0.00001
|
|
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter)
|
rs794727680
|
0.00001
|
|
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr)
|
rs398124492
|
0.00001
|
|
NM_138694.4(PKHD1):c.7350+653A>G
|
rs1240212722
|
0.00001
|
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
|
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)
|
rs886061616
|
0.00001
|
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
|
NM_138694.4(PKHD1):c.8555-2A>C
|
rs1020621286
|
0.00001
|
|
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)
|
rs779168950
|
0.00001
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
0.00001
|
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
|
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
|
rs765020336
|
0.00001
|
|
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)
|
rs757946548
|
0.00001
|
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
|
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly)
|
rs1477456222
|
0.00001
|
|
NM_138694.4(PKHD1):c.9464A>G (p.Tyr3155Cys)
|
rs957419550
|
0.00001
|
|
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)
|
rs1242089464
|
0.00001
|
|
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)
|
rs1057516577
|
0.00001
|
|
NM_138694.4(PKHD1):c.977-1G>A
|
rs1808864196
|
0.00001
|
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
|
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)
|
rs1057524563
|
0.00001
|
|
NM_138701.4(MPLKIP):c.430A>G (p.Met144Val)
|
rs137853117
|
0.00001
|
|
NM_138711.6(PPARG):c.362A>G (p.Tyr121Cys)
|
rs1354592503
|
0.00001
|
|
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys)
|
rs746681765
|
0.00001
|
|
NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)
|
rs1315421427
|
0.00001
|
|
NM_139027.6(ADAMTS13):c.1058C>T (p.Pro353Leu)
|
rs281875338
|
0.00001
|
|
NM_139027.6(ADAMTS13):c.1584+5G>A
|
rs782235228
|
0.00001
|
|
NM_139027.6(ADAMTS13):c.2050C>T (p.Gln684Ter)
|
rs370121816
|
0.00001
|
|
NM_139027.6(ADAMTS13):c.2317C>T (p.Gln773Ter)
|
rs1376759965
|
0.00001
|
|
NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln)
|
rs373569027
|
0.00001
|
|
NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys)
|
rs281875340
|
0.00001
|
|
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys)
|
rs777176261
|
0.00001
|
|
NM_144573.4(NEXN):c.1171C>T (p.Arg391Ter)
|
rs200106758
|
0.00001
|
|
NM_144666.3(DNHD1):c.5560C>T (p.Arg1854Cys)
|
rs1035842147
|
0.00001
|
|
NM_144666.3(DNHD1):c.911G>A (p.Arg304Gln)
|
rs369544858
|
0.00001
|
|
NM_144672.4(OTOA):c.2102del (p.Ile701fs)
|
rs1271983360
|
0.00001
|
|
NM_144672.4(OTOA):c.399+2T>C
|
rs760573914
|
0.00001
|
|
NM_144672.4(OTOA):c.755G>A (p.Trp252Ter)
|
rs879255431
|
0.00001
|
|
NM_144773.4(PROKR2):c.629A>G (p.Gln210Arg)
|
rs74315417
|
0.00001
|
|
NM_144991.3(TSPEAR):c.1856+2T>C
|
rs1440666801
|
0.00001
|
|
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs)
|
rs879255677
|
0.00001
|
|
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)
|
rs398124529
|
0.00001
|
|
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)
|
rs879255683
|
0.00001
|
|
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs)
|
rs753009073
|
0.00001
|
|
NM_144997.7(FLCN):c.764A>C (p.His255Pro)
|
rs879255665
|
0.00001
|
|
NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe)
|
rs767568897
|
0.00001
|
|
NM_145207.3(AFG2A):c.1586G>A (p.Arg529Gln)
|
rs567175477
|
0.00001
|
|
NM_145207.3(AFG2A):c.1612C>T (p.Arg538Ter)
|
rs1730088305
|
0.00001
|
|
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser)
|
rs375343753
|
0.00001
|
|
NM_145207.3(AFG2A):c.2140C>T (p.Arg714Ter)
|
rs754135389
|
0.00001
|
|
NM_147127.5(EVC2):c.1713dup (p.Asn572fs)
|
rs1553836165
|
0.00001
|
|
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer)
|
rs1431987950
|
0.00001
|
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
|
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
|
rs1043590599
|
0.00001
|
|
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
|
rs779407729
|
0.00001
|
|
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)
|
rs761707323
|
0.00001
|
|
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter)
|
rs1236566474
|
0.00001
|
|
NM_147127.5(EVC2):c.893del (p.His298fs)
|
rs777505711
|
0.00001
|
|
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)
|
rs763363403
|
0.00001
|
|
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)
|
rs28942097
|
0.00001
|
|
NM_152305.3(POGLUT1):c.11G>A (p.Trp4Ter)
|
rs587777293
|
0.00001
|
|
NM_152305.3(POGLUT1):c.628C>T (p.Arg210Ter)
|
rs776542098
|
0.00001
|
|
NM_152328.5(ADSS1):c.769G>A (p.Ala257Thr)
|
rs753588351
|
0.00001
|
|
NM_152383.5(DIS3L2):c.1096G>T (p.Glu366Ter)
|
rs760123810
|
0.00001
|
|
NM_152383.5(DIS3L2):c.1162C>T (p.Arg388Ter)
|
rs766629924
|
0.00001
|
|
NM_152383.5(DIS3L2):c.127C>T (p.Arg43Ter)
|
rs762653147
|
0.00001
|
|
NM_152383.5(DIS3L2):c.1983del (p.Thr662fs)
|
rs1395962146
|
0.00001
|
|
NM_152383.5(DIS3L2):c.2170C>T (p.Arg724Ter)
|
rs773260717
|
0.00001
|
|
NM_152384.3(BBS5):c.209-2A>G
|
rs1477098739
|
0.00001
|
|
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)
|
rs121908581
|
0.00001
|
|
NM_152384.3(BBS5):c.413G>A (p.Arg138His)
|
rs179363897
|
0.00001
|
|
NM_152393.4(KLHL40):c.1489C>T (p.Gln497Ter)
|
rs1697319878
|
0.00001
|
|
NM_152393.4(KLHL40):c.1498C>T (p.Arg500Cys)
|
rs758188096
|
0.00001
|
|
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys)
|
rs397509419
|
0.00001
|
|
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)
|
rs763283033
|
0.00001
|
|
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)
|
rs753873681
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)
|
rs753355844
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)
|
rs121908284
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe)
|
rs121908286
|
0.00001
|
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
|
NM_152419.3(HGSNAT):c.852-2A>C
|
rs755710040
|
0.00001
|
|
NM_152443.3(RDH12):c.133A>G (p.Thr45Ala)
|
rs1225487694
|
0.00001
|
|
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter)
|
rs778571042
|
0.00001
|
|
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)
|
rs368489658
|
0.00001
|
|
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)
|
rs202126574
|
0.00001
|
|
NM_152443.3(RDH12):c.446T>C (p.Leu149Pro)
|
rs747257567
|
0.00001
|
|
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)
|
rs121434337
|
0.00001
|
|
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)
|
rs971610277
|
0.00001
|
|
NM_152443.3(RDH12):c.580dup (p.Tyr194fs)
|
rs2140145502
|
0.00001
|
|
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)
|
rs745871149
|
0.00001
|
|
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)
|
rs28940313
|
0.00001
|
|
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)
|
rs878853339
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.1A>G (p.Met1Val)
|
rs763641118
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu)
|
rs367543072
|
0.00001
|
|
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met)
|
rs367543074
|
0.00001
|
|
NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter)
|
rs749779829
|
0.00001
|
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|