|
NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
|
NM_000065.5(C6):c.1881C>T (p.Asp627=)
|
rs6866352
|
0.99979
|
|
NM_000054.7(AVPR2):c.26-6T>G
|
rs56689668
|
0.99968
|
|
NM_000719.7(CACNA1C):c.5445-511=
|
rs10774054
|
0.99960
|
|
NM_002775.5(HTRA1):c.1274+8G>A
|
rs2672586
|
0.99939
|
|
NM_004415.4(DSP):c.741= (p.Ala247=)
|
rs2806234
|
0.99917
|
|
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro)
|
rs806052
|
0.99897
|
|
NM_198241.3(EIF4G1):c.481A>G (p.Thr161Ala)
|
rs13319149
|
0.99798
|
|
NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr)
|
rs7560008
|
0.99785
|
|
NM_004525.3(LRP2):c.63G>C (p.Ala21=)
|
rs1559014
|
0.99771
|
|
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala)
|
rs1552311
|
0.99751
|
|
NM_145649.5(GCNT2):c.926-34546C>G
|
rs539351
|
0.99583
|
|
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro)
|
rs4145333
|
0.99572
|
|
NM_001082971.2(DDC):c.49A>G (p.Met17Val)
|
rs6264
|
0.99435
|
|
NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=)
|
rs319438
|
0.99433
|
|
NM_000111.3(SLC26A3):c.1953T>C (p.Leu651=)
|
rs41669
|
0.99393
|
|
NM_001289104.2(PRKCSH):c.850-14T>C
|
rs186375
|
0.99255
|
|
NM_001277115.2(DNAH11):c.1956C>T (p.Phe652=)
|
rs6963535
|
0.99232
|
|
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)
|
rs2147377
|
0.99149
|
|
NM_006790.3(MYOT):c.220= (p.Gln74=)
|
rs6890689
|
0.98645
|
|
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp)
|
rs10282312
|
0.98349
|
|
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794
|
0.98003
|
|
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met)
|
rs2438378
|
0.97324
|
|
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg)
|
rs268674
|
0.95976
|
|
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala)
|
rs7592429
|
0.95419
|
|
NM_007327.4(GRIN1):c.1467+8G>A
|
rs10747050
|
0.94915
|
|
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val)
|
rs3027238
|
0.94614
|
|
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly)
|
rs2438374
|
0.93887
|
|
NM_015346.4(ZFYVE26):c.5672A>G (p.Asn1891Ser)
|
rs3742883
|
0.93795
|
|
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=)
|
rs7213318
|
0.93495
|
|
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)
|
rs2217342
|
0.93139
|
|
NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
|
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)
|
rs425876
|
0.92861
|
|
NM_000130.5(F5):c.5419+12A>G
|
rs6009
|
0.92617
|
|
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln)
|
rs1801726
|
0.92120
|
|
NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=)
|
rs4975629
|
0.91839
|
|
NM_025114.4(CEP290):c.2268A>G (p.Ser756=)
|
rs2468255
|
0.91372
|
|
NM_032119.4(ADGRV1):c.18625-7T>C
|
rs7726023
|
0.91136
|
|
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp)
|
rs1991517
|
0.90865
|
|
NM_198525.3(KIF7):c.195G>C (p.Ala65=)
|
rs8179066
|
0.90462
|
|
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=)
|
rs7430407
|
0.90302
|
|
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala)
|
rs8037349
|
0.90195
|
|
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
|
rs505151
|
0.89865
|
|
NM_000404.4(GLB1):c.34T>C (p.Leu12=)
|
rs7614776
|
0.88846
|
|
NM_001184.4(ATR):c.7875G>A (p.Gln2625=)
|
rs1802904
|
0.88595
|
|
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr)
|
rs217086
|
0.87607
|
|
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val)
|
rs2487068
|
0.87306
|
|
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
|
NM_001849.4(COL6A2):c.1671+10A>G
|
rs915786
|
0.85505
|
|
NM_198525.3(KIF7):c.2658A>C (p.Ala886=)
|
rs3803531
|
0.85312
|
|
NM_030667.3(PTPRO):c.1106-10T>A
|
rs4764199
|
0.84939
|
|
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=)
|
rs28580074
|
0.84910
|
|
NM_000552.5(VWF):c.7239T>C (p.Thr2413=)
|
rs216867
|
0.84456
|
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
|
NM_078470.6(COX15):c.*1126T>C
|
rs2231687
|
0.83974
|
|
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
|
rs562556
|
0.83129
|
|
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=)
|
rs4761829
|
0.81114
|
|
NM_000335.5(SCN5A):c.87A>G (p.Ala29=)
|
rs6599230
|
0.80621
|
|
NM_004360.5(CDH1):c.48+6C>T
|
rs3743674
|
0.80359
|
|
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)
|
rs711631
|
0.80127
|
|
NM_015915.5(ATL1):c.351G>A (p.Glu117=)
|
rs1060197
|
0.79691
|
|
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu)
|
rs2075252
|
0.79497
|
|
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=)
|
rs1376041
|
0.79034
|
|
NM_020975.6(RET):c.135A>G (p.Ala45=)
|
rs1800858
|
0.78517
|
|
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)
|
rs390659
|
0.78498
|
|
NM_020975.6(RET):c.2307G>T (p.Leu769=)
|
rs1800861
|
0.78487
|
|
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)
|
rs11553521
|
0.77624
|
|
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val)
|
rs3826543
|
0.77529
|
|
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly)
|
rs434102
|
0.77333
|
|
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
|
rs1042034
|
0.76948
|
|
NM_004836.7(EIF2AK3):c.439-170A>G
|
rs7571971
|
0.76936
|
|
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys)
|
rs2366928
|
0.76852
|
|
NM_004415.4(DSP):c.2091A>G (p.Gly697=)
|
rs2076304
|
0.76849
|
|
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)
|
rs1185193
|
0.76694
|
|
NM_032119.4(ADGRV1):c.2367+8C>T
|
rs2366773
|
0.76168
|
|
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=)
|
rs1139405
|
0.75861
|
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
|
NM_001994.3(F13B):c.344G>A (p.Arg115His)
|
rs6003
|
0.75658
|
|
NM_000379.4(XDH):c.3276+12A>G
|
rs1366813
|
0.75380
|
|
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)
|
rs4630153
|
0.75355
|
|
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe)
|
rs2366777
|
0.74245
|
|
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser)
|
rs1878878
|
0.74010
|
|
NM_004168.4(SDHA):c.891T>C (p.Pro297=)
|
rs1126417
|
0.74006
|
|
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=)
|
rs6432860
|
0.73885
|
|
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr)
|
rs2298771
|
0.73872
|
|
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile)
|
rs4916684
|
0.73682
|
|
NM_014336.5(AIPL1):c.651A>G (p.Pro217=)
|
rs2292546
|
0.73525
|
|
NM_138694.4(PKHD1):c.8798-19A>C
|
rs1326605
|
0.73187
|
|
NM_022336.4(EDAR):c.1056C>T (p.Cys352=)
|
rs12623957
|
0.73040
|
|
NM_000552.5(VWF):c.4641T>C (p.Thr1547=)
|
rs216310
|
0.71518
|
|
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala)
|
rs216311
|
0.71493
|
|
NM_000069.3(CACNA1S):c.1828-5T>C
|
rs1998721
|
0.71016
|
|
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)
|
rs5215
|
0.70936
|
|
NM_006005.3(WFS1):c.2565A>G (p.Ser855=)
|
rs1046316
|
0.70506
|
|
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)
|
rs2303596
|
0.69760
|
|
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)
|
rs3729547
|
0.69444
|
|
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)
|
rs2288355
|
0.69367
|
|
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=)
|
rs9646771
|
0.69145
|
|
NM_001378615.1(CC2D2A):c.3183-8T>C
|
rs13121363
|
0.69106
|
|
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)
|
rs1494558
|
0.68368
|
|
NM_006005.3(WFS1):c.684C>G (p.Arg228=)
|
rs1801213
|
0.68223
|
|
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)
|
rs11080572
|
0.68221
|
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68136
|
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
|
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051
|
0.67380
|
|
NM_002156.5(HSPD1):c.273A>G (p.Lys91=)
|
rs8539
|
0.67024
|
|
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala)
|
rs10820900
|
0.66416
|
|
NM_000505.4(F12):c.-4T>C
|
rs1801020
|
0.66266
|
|
NM_201384.3(PLEC):c.2457+6C>T
|
rs11780911
|
0.66214
|
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65654
|
|
NM_000240.4(MAOA):c.1410T>C (p.Asp470=)
|
rs1137070
|
0.65298
|
|
NM_001018005.2(TPM1):c.453C>A (p.Ala151=)
|
rs1071646
|
0.65141
|
|
NM_000101.4(CYBA):c.214T>C (p.Tyr72His)
|
rs4673
|
0.64973
|
|
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val)
|
rs3134031
|
0.64845
|
|
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=)
|
rs4407724
|
0.64816
|
|
NM_207346.3(TSEN54):c.285+32C>A
|
rs7218675
|
0.64612
|
|
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=)
|
rs914428
|
0.64398
|
|
NM_000159.4(GCDH):c.*165A>G
|
rs8012
|
0.64188
|
|
NM_006005.3(WFS1):c.461-9A>G
|
rs10010131
|
0.64017
|
|
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)
|
rs2248069
|
0.64010
|
|
NM_006005.3(WFS1):c.1500C>T (p.Asn500=)
|
rs1801214
|
0.63787
|
|
NM_001184.4(ATR):c.1776T>A (p.Gly592=)
|
rs2227930
|
0.63717
|
|
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=)
|
rs6432901
|
0.63691
|
|
NM_000124.4(ERCC6):c.135C>G (p.Leu45=)
|
rs2228524
|
0.63279
|
|
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=)
|
rs4489420
|
0.62688
|
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
|
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=)
|
rs2256135
|
0.62436
|
|
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln)
|
rs6415788
|
0.62075
|
|
NM_000352.6(ABCC8):c.2820+17A>G
|
rs2106865
|
0.62022
|
|
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr)
|
rs3761863
|
0.61824
|
|
NM_000243.3(MEFV):c.942C>T (p.Arg314=)
|
rs224213
|
0.61804
|
|
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)
|
rs7111873
|
0.61686
|
|
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=)
|
rs303815
|
0.61642
|
|
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu)
|
rs4667591
|
0.61608
|
|
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)
|
rs7126210
|
0.61595
|
|
NM_014271.4(IL1RAPL1):c.-19G>A
|
rs6526806
|
0.61514
|
|
NM_004525.3(LRP2):c.2025C>T (p.Val675=)
|
rs830994
|
0.61350
|
|
NM_000540.3(RYR1):c.594A>G (p.Leu198=)
|
rs2229139
|
0.60966
|
|
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=)
|
rs1064975
|
0.60212
|
|
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)
|
rs1800470
|
0.60129
|
|
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=)
|
rs60637
|
0.60091
|
|
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=)
|
rs990626
|
0.59977
|
|
NM_000322.5(PRPH2):c.318T>C (p.Val106=)
|
rs7764439
|
0.59432
|
|
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)
|
rs901854
|
0.59379
|
|
NM_181882.3(PRX):c.2645T>C (p.Val882Ala)
|
rs268671
|
0.59048
|
|
NM_006005.3(WFS1):c.2433G>A (p.Lys811=)
|
rs1046314
|
0.58808
|
|
NM_006005.3(WFS1):c.1185C>T (p.Val395=)
|
rs1801206
|
0.57629
|
|
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=)
|
rs9648691
|
0.57506
|
|
NM_181882.3(PRX):c.2655T>C (p.Pro885=)
|
rs268672
|
0.56968
|
|
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)
|
rs213950
|
0.56732
|
|
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=)
|
rs6747673
|
0.56670
|
|
NM_030665.4(RAI1):c.1992G>A (p.Pro664=)
|
rs8067439
|
0.56541
|
|
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)
|
rs3735801
|
0.55959
|
|
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=)
|
rs3735802
|
0.55845
|
|
NM_004525.3(LRP2):c.2460A>G (p.Thr820=)
|
rs2241190
|
0.54926
|
|
NM_015559.3(SETBP1):c.540+7405G>A
|
rs663651
|
0.54347
|
|
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=)
|
rs6337
|
0.53946
|
|
NM_002769.5(PRSS1):c.738T>C (p.Asn246=)
|
rs6667
|
0.53816
|
|
NM_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
|
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=)
|
rs831043
|
0.53755
|
|
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=)
|
rs2292597
|
0.53714
|
|
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=)
|
rs9672286
|
0.53592
|
|
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)
|
rs214976
|
0.52553
|
|
NM_003331.5(TYK2):c.1669+7T>C
|
rs280519
|
0.52527
|
|
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg)
|
rs12900805
|
0.52523
|
|
NM_000587.4(C7):c.1166G>C (p.Ser389Thr)
|
rs1063499
|
0.52230
|
|
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)
|
rs3803530
|
0.52052
|
|
NM_000146.4(FTL):c.163T>C (p.Leu55=)
|
rs2230267
|
0.51379
|
|
NM_000257.4(MYH7):c.189C>T (p.Thr63=)
|
rs2069540
|
0.51373
|
|
NM_000552.5(VWF):c.1451A>G (p.His484Arg)
|
rs1800378
|
0.51348
|
|
NM_001415.4(EIF2S3):c.99C>T (p.His33=)
|
rs36018672
|
0.50815
|
|
NM_001142800.2(EYS):c.1809C>T (p.Val603=)
|
rs9345601
|
0.50550
|
|
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser)
|
rs9490809
|
0.50546
|
|
NM_182961.4(SYNE1):c.1047+4T>A
|
rs9397106
|
0.50379
|
|
NM_000217.3(KCNA1):c.804G>C (p.Thr268=)
|
rs2227910
|
0.50318
|
|
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=)
|
rs2645339
|
0.49941
|
|
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=)
|
rs1129768
|
0.49865
|
|
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=)
|
rs7598901
|
0.49457
|
|
NM_000383.4(AIRE):c.1578T>C (p.Asp526=)
|
rs1133779
|
0.49286
|
|
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)
|
rs398607
|
0.49249
|
|
NM_000489.6(ATRX):c.2785= (p.Glu929=)
|
rs3088074
|
0.49116
|
|
NM_001303.4(COX10):c.476G>A (p.Arg159Gln)
|
rs2072279
|
0.48875
|
|
NM_001605.3(AARS1):c.903C>T (p.His301=)
|
rs2070203
|
0.48623
|
|
NM_000243.3(MEFV):c.495C>A (p.Ala165=)
|
rs224223
|
0.48450
|
|
NM_000448.3(RAG1):c.746A>G (p.His249Arg)
|
rs3740955
|
0.48330
|
|
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)
|
rs7637099
|
0.48281
|
|
NM_017617.5(NOTCH1):c.1555+10A>G
|
rs11145767
|
0.48034
|
|
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)
|
rs2303606
|
0.47852
|
|
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)
|
rs1048099
|
0.47531
|
|
NM_000243.3(MEFV):c.306T>C (p.Asp102=)
|
rs224225
|
0.47275
|
|
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)
|
rs1052030
|
0.47208
|
|
NM_000217.3(KCNA1):c.684T>C (p.Cys228=)
|
rs1048500
|
0.47043
|
|
NM_000352.6(ABCC8):c.579+14C>T
|
rs2301703
|
0.46493
|
|
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe)
|
rs1801195
|
0.46398
|
|
NM_001297.5(CNGB1):c.1122-15C>T
|
rs2303778
|
0.46316
|
|
NM_000553.6(WRN):c.3138+7G>A
|
rs2737335
|
0.46167
|
|
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)
|
rs1055138
|
0.45965
|
|
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=)
|
rs3747562
|
0.45408
|
|
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=)
|
rs2229265
|
0.45057
|
|
NM_002454.3(MTRR):c.66A>G (p.Ile22Met)
|
rs1801394
|
0.44938
|
|
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)
|
rs1042077
|
0.44737
|
|
NM_000553.6(WRN):c.2361G>T (p.Leu787=)
|
rs1800392
|
0.44644
|
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44635
|
|
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg)
|
rs2244492
|
0.44551
|
|
NM_000312.4(PROC):c.-50A>T
|
rs1799810
|
0.44475
|
|
NM_000754.4(COMT):c.186C>T (p.His62=)
|
rs4633
|
0.44464
|
|
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=)
|
rs1805126
|
0.44288
|
|
NM_000352.6(ABCC8):c.1686C>T (p.His562=)
|
rs1799857
|
0.44260
|
|
NM_001202.6(BMP4):c.455T>C (p.Val152Ala)
|
rs17563
|
0.43916
|
|
NM_000754.4(COMT):c.472G>A (p.Val158Met)
|
rs4680
|
0.43847
|
|
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala)
|
rs3803763
|
0.43727
|
|
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=)
|
rs10521
|
0.43502
|
|
NM_006005.3(WFS1):c.1832G>A (p.Arg611His)
|
rs734312
|
0.43085
|
|
NM_000257.4(MYH7):c.2967T>C (p.Ile989=)
|
rs7157716
|
0.43030
|
|
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=)
|
rs2229971
|
0.42989
|
|
NM_000214.3(JAG1):c.765C>T (p.Tyr255=)
|
rs1131695
|
0.42930
|
|
NM_014000.3(VCL):c.2388G>A (p.Pro796=)
|
rs767809
|
0.42862
|
|
NM_000103.4(CYP19A1):c.*19C>T
|
rs10046
|
0.42803
|
|
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)
|
rs10781542
|
0.42574
|
|
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)
|
rs10870194
|
0.42571
|
|
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=)
|
rs3818717
|
0.42485
|
|
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=)
|
rs2075249
|
0.42392
|
|
NM_004260.4(RECQL4):c.3236+13C>T
|
rs4244610
|
0.42104
|
|
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=)
|
rs7301328
|
0.41972
|
|
NM_000243.3(MEFV):c.1764G>A (p.Pro588=)
|
rs1231122
|
0.41230
|
|
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser)
|
rs11592462
|
0.40879
|
|
NM_001002294.3(FMO3):c.472G>A (p.Glu158Lys)
|
rs2266782
|
0.40810
|
|
NM_000553.6(WRN):c.3138+6C>T
|
rs3024239
|
0.40457
|
|
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
|
rs679899
|
0.40054
|
|
NM_000203.5(IDUA):c.60G>A (p.Ala20=)
|
rs10902762
|
0.40016
|
|
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=)
|
rs767455
|
0.39963
|
|
NM_001371279.1(REEP1):c.285G>A (p.Thr95=)
|
rs2276625
|
0.39866
|
|
NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
|
rs86487
|
0.39804
|
|
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu)
|
rs13438232
|
0.39795
|
|
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)
|
rs7413162
|
0.39681
|
|
NM_000383.4(AIRE):c.1197T>C (p.Ala399=)
|
rs1800521
|
0.39210
|
|
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=)
|
rs60992377
|
0.39132
|
|
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=)
|
rs1806191
|
0.39095
|
|
NM_025074.7(FRAS1):c.3151+14_3151+15dup
|
rs398092530
|
0.38519
|
|
NM_021956.5(GRIK2):c.2424G>A (p.Glu808=)
|
rs2227283
|
0.38493
|
|
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=)
|
rs2229267
|
0.38438
|
|
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=)
|
rs13402180
|
0.38234
|
|
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=)
|
rs13414203
|
0.38227
|
|
NM_001065.4(TNFRSF1A):c.625+10A>G
|
rs1800693
|
0.38055
|
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
|
NM_000384.3(APOB):c.7545C>T (p.Thr2515=)
|
rs693
|
0.38001
|
|
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=)
|
rs6233
|
0.38001
|
|
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)
|
rs9493627
|
0.37885
|
|
NM_001077415.3(CRELD1):c.1049-393C>T
|
rs3774207
|
0.37804
|
|
NM_000527.5(LDLR):c.1959T>C (p.Val653=)
|
rs5925
|
0.37645
|
|
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr)
|
rs11649804
|
0.37583
|
|
NM_000552.5(VWF):c.5844C>T (p.Cys1948=)
|
rs216902
|
0.37406
|
|
NM_020247.5(COQ8A):c.1573-20C>G
|
rs2297416
|
0.37163
|
|
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala)
|
rs2252755
|
0.37011
|
|
NM_201525.4(ADGRG1):c.1168-20C>A
|
rs2305309
|
0.36777
|
|
G6PD:c.1455-13T>C
|
rs2071429
|
0.36538
|
|
NM_000410.4(HFE):c.340+4T>C
|
rs2071303
|
0.36484
|
|
NM_003244.4(TGIF1):c.16+1720del
|
rs11571510
|
0.36340
|
|
NM_001735.3(C5):c.2404G>A (p.Val802Ile)
|
rs17611
|
0.36288
|
|
NM_181882.3(PRX):c.2763A>G (p.Ile921Met)
|
rs268673
|
0.36279
|
|
NM_012463.4(ATP6V0A2):c.-14C>T
|
rs1139320
|
0.35815
|
|
NM_030665.4(RAI1):c.840del (p.Gln280fs)
|
rs34083643
|
0.35741
|
|
NM_000363.5(TNNI3):c.25-8T>A
|
rs3729836
|
0.35431
|
|
NM_001737.5(C9):c.13C>T (p.Arg5Trp)
|
rs700233
|
0.35371
|
|
NM_033337.3(CAV3):c.99C>T (p.Asn33=)
|
rs1008642
|
0.35060
|
|
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)
|
rs2292487
|
0.34915
|
|
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys)
|
rs4148211
|
0.34608
|
|
NM_014270.5(SLC7A9):c.425T>C (p.Val142Ala)
|
rs12150889
|
0.34607
|
|
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=)
|
rs6750044
|
0.34586
|
|
NM_000046.5(ARSB):c.1072G>A (p.Val358Met)
|
rs1065757
|
0.34386
|
|
NM_153700.2(STRC):c.179T>C (p.Phe60Ser)
|
rs2729509
|
0.34286
|
|
NM_000527.5(LDLR):c.1773C>T (p.Asn591=)
|
rs688
|
0.33665
|
|
NM_000130.5(F5):c.3804T>C (p.Ser1268=)
|
rs1800594
|
0.33303
|
|
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=)
|
rs10176588
|
0.33260
|
|
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp)
|
rs1860967
|
0.33038
|
|
NM_000311.5(PRNP):c.385A>G (p.Met129Val)
|
rs1799990
|
0.32909
|
|
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser)
|
rs2229263
|
0.32675
|
|
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val)
|
rs506121
|
0.32420
|
|
NM_000754.4(COMT):c.408C>G (p.Leu136=)
|
rs4818
|
0.32293
|
|
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=)
|
rs1053315
|
0.32026
|
|
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=)
|
rs3747563
|
0.31969
|
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31936
|
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31913
|
|
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)
|
rs13181
|
0.31719
|
|
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)
|
rs1532268
|
0.31601
|
|
NM_002016.2(FLG):c.7956A>C (p.Glu2652Asp)
|
rs192116923
|
0.31551
|
|
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met)
|
rs1007160
|
0.31494
|
|
NM_001253852.3(AP4B1):c.618-13G>C
|
rs3789613
|
0.31448
|
|
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=)
|
rs13079522
|
0.30449
|
|
NM_000548.5(TSC2):c.5161-10A>C
|
rs1800718
|
0.30182
|
|
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=)
|
rs2252748
|
0.30160
|
|
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala)
|
rs6647
|
0.29917
|
|
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=)
|
rs17038714
|
0.29915
|
|
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
|
NM_021956.5(GRIK2):c.2312-9C>T
|
rs2227281
|
0.29456
|
|
NM_000130.5(F5):c.5290A>G (p.Met1764Val)
|
rs6030
|
0.29437
|
|
NM_001098.3(ACO2):c.192A>C (p.Thr64=)
|
rs137831
|
0.29094
|
|
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu)
|
rs2627043
|
0.29094
|
|
NM_003611.3(OFD1):c.1129+16A>G
|
rs3815049
|
0.28815
|
|
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)
|
rs1043424
|
0.27663
|
|
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile)
|
rs9353806
|
0.27343
|
|
NM_018972.4(GDAP1):c.507T>G (p.Ser169=)
|
rs11554166
|
0.27295
|
|
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn)
|
rs2464196
|
0.27177
|
|
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=)
|
rs17309806
|
0.27053
|
|
NM_004168.4(SDHA):c.1932G>A (p.Val644=)
|
rs6961
|
0.26598
|
|
NM_000257.4(MYH7):c.732C>T (p.Phe244=)
|
rs2069542
|
0.26492
|
|
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)
|
rs1799793
|
0.26310
|
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
|
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
|
rs1801131
|
0.25830
|
|
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln)
|
rs3748361
|
0.25511
|
|
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)
|
rs3737515
|
0.25425
|
|
NM_198525.3(KIF7):c.3517+6C>T
|
rs74251725
|
0.25419
|
|
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=)
|
rs8107538
|
0.25415
|
|
NM_017950.4(CCDC40):c.2832+313A>G
|
rs7210679
|
0.25232
|
|
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr)
|
rs2228171
|
0.25207
|
|
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)
|
rs11575934
|
0.25155
|
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.24782
|
|
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
|
rs1805124
|
0.24768
|
|
NM_000130.5(F5):c.2573A>G (p.Lys858Arg)
|
rs4524
|
0.24628
|
|
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe)
|
rs6960
|
0.24550
|
|
NM_000130.5(F5):c.2208C>T (p.Ile736=)
|
rs6016
|
0.24548
|
|
NM_000130.5(F5):c.2301A>G (p.Ser767=)
|
rs6021
|
0.24547
|
|
NM_000130.5(F5):c.2773A>G (p.Lys925Glu)
|
rs6032
|
0.24537
|
|
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
|
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=)
|
rs1806201
|
0.24515
|
|
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=)
|
rs2291862
|
0.24351
|
|
NM_000533.5(PLP1):c.609T>C (p.Asp203=)
|
rs1126707
|
0.24299
|
|
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
|
rs1367117
|
0.24155
|
|
NM_000130.5(F5):c.2594A>G (p.His865Arg)
|
rs4525
|
0.24141
|
|
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)
|
rs12402052
|
0.24010
|
|
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)
|
rs11121552
|
0.23876
|
|
NM_000552.5(VWF):c.1182A>C (p.Ser394=)
|
rs1800376
|
0.23834
|
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
|
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe)
|
rs16868972
|
0.23805
|
|
NM_001244008.2(KIF1A):c.3641-8C>T
|
rs56024577
|
0.23553
|
|
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val)
|
rs214950
|
0.23524
|
|
NM_000130.5(F5):c.2235T>C (p.Asn745=)
|
rs6017
|
0.23336
|
|
NM_000552.5(VWF):c.1173A>T (p.Thr391=)
|
rs1800375
|
0.23172
|
|
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys)
|
rs1126728
|
0.23125
|
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
|
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)
|
rs1800136
|
0.23047
|
|
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)
|
rs2238472
|
0.22903
|
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.22862
|
|
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)
|
rs1346044
|
0.22580
|
|
NM_000130.5(F5):c.237A>G (p.Gln79=)
|
rs6028
|
0.22486
|
|
NM_005120.3(MED12):c.736-8A>C
|
rs62609586
|
0.22423
|
|
NM_000443.4(ABCB4):c.711A>T (p.Ile237=)
|
rs2109505
|
0.22300
|
|
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=)
|
rs10240503
|
0.22240
|
|
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)
|
rs5030619
|
0.21992
|
|
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)
|
rs446227
|
0.21985
|
|
NM_000130.5(F5):c.3948C>T (p.Leu1316=)
|
rs9287090
|
0.21875
|
|
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp)
|
rs1303
|
0.21786
|
|
NM_001395413.1(POR):c.378A>G (p.Pro126=)
|
rs1135612
|
0.21625
|
|
NM_177438.3(DICER1):c.4206+11del
|
rs58202892
|
0.21617
|
|
NM_000383.4(AIRE):c.681C>T (p.Gly227=)
|
rs1055311
|
0.21613
|
|
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His)
|
rs36051007
|
0.21486
|
|
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
|
rs10151259
|
0.21481
|
|
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn)
|
rs8179065
|
0.21214
|
|
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val)
|
rs15251
|
0.21165
|
|
NM_014141.6(CNTNAP2):c.1777+10A>G
|
rs2286127
|
0.20881
|
|
NM_020975.6(RET):c.337+9G>A
|
rs2435351
|
0.20840
|
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
|
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=)
|
rs6880570
|
0.20300
|
|
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)
|
rs4147857
|
0.20212
|
|
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg)
|
rs34967813
|
0.20187
|
|
NM_025000.4(DCAF17):c.322-14C>T
|
rs192861143
|
0.20151
|
|
NM_005199.5(CHRNG):c.507-13C>T
|
rs2853462
|
0.20060
|
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20005
|
|
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)
|
rs2275029
|
0.19626
|
|
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)
|
rs2228527
|
0.19565
|
|
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)
|
rs2228526
|
0.19557
|
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
|
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg)
|
rs2228529
|
0.19381
|
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
|
NM_000587.4(C7):c.1759A>C (p.Thr587Pro)
|
rs13157656
|
0.18623
|
|
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)
|
rs11558179
|
0.18595
|
|
NM_000383.4(AIRE):c.588C>T (p.Ser196=)
|
rs878081
|
0.18544
|
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
|
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)
|
rs16030
|
0.17770
|
|
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=)
|
rs60444527
|
0.17763
|
|
NM_170707.4(LMNA):c.1157+16G>A
|
rs534807
|
0.17703
|
|
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser)
|
rs2066842
|
0.17678
|
|
NM_000383.4(AIRE):c.99T>C (p.Ala33=)
|
rs3746964
|
0.17550
|
|
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=)
|
rs34592169
|
0.17471
|
|
NM_001267550.2(TTN):c.8902+14del
|
rs573000455
|
0.17128
|
|
NM_001267550.2(TTN):c.8902+16del
|
rs570467105
|
0.17084
|
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16948
|
|
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)
|
rs73066479
|
0.16867
|
|
NM_000335.5(SCN5A):c.1141-3C>A
|
rs41312433
|
0.16844
|
|
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro)
|
rs17854645
|
0.16605
|
|
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)
|
rs1042031
|
0.16481
|
|
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)
|
rs1805388
|
0.16468
|
|
NM_000455.5(STK11):c.920+7G>C
|
rs2075607
|
0.16357
|
|
NM_002633.3(PGM1):c.262A>G (p.Ile88Val)
|
rs855314
|
0.16313
|
|
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=)
|
rs7868941
|
0.15561
|
|
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=)
|
rs950692
|
0.15398
|
|
NM_000552.5(VWF):c.6846A>G (p.Thr2282=)
|
rs1053523
|
0.14911
|
|
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)
|
rs16869032
|
0.14695
|
|
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)
|
rs2234962
|
0.14532
|
|
NM_003619.4(PRSS12):c.1816G>T (p.Ala606Ser)
|
rs28661939
|
0.14235
|
|
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=)
|
rs3827848
|
0.14130
|
|
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)
|
rs16025
|
0.14118
|
|
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)
|
rs2076299
|
0.13777
|
|
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr)
|
rs6472
|
0.13352
|
|
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)
|
rs16023
|
0.13336
|
|
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)
|
rs61753610
|
0.12981
|
|
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)
|
rs152451
|
0.12980
|
|
NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg)
|
rs2279343
|
0.12936
|
|
NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly)
|
rs1782360
|
0.12638
|
|
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=)
|
rs534165083
|
0.12576
|
|
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=)
|
rs62637566
|
0.12459
|
|
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg)
|
rs3745202
|
0.12427
|
|
NM_181882.3(PRX):c.306C>T (p.Thr102=)
|
rs744389
|
0.12409
|
|
NM_207346.3(TSEN54):c.370-19C>A
|
rs56895494
|
0.12137
|
|
NM_133433.4(NIPBL):c.3575-17A>G
|
rs78827246
|
0.12109
|
|
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe)
|
rs1804495
|
0.12108
|
|
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His)
|
rs11575926
|
0.11978
|
|
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)
|
rs16022
|
0.11855
|
|
NM_019616.4(F7):c.1172G>A (p.Arg391Gln)
|
rs6046
|
0.11574
|
|
NM_003002.4(SDHD):c.204C>T (p.Ser68=)
|
rs9919552
|
0.11428
|
|
NM_000527.5(LDLR):c.1725C>T (p.Leu575=)
|
rs1799898
|
0.11001
|
|
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser)
|
rs1801725
|
0.10965
|
|
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)
|
rs12926089
|
0.10957
|
|
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)
|
rs1801516
|
0.10783
|
|
NM_000214.3(JAG1):c.588C>T (p.Cys196=)
|
rs1801138
|
0.10620
|
|
NM_003283.6(TNNT1):c.129-9T>G
|
rs67795913
|
0.10318
|
|
NM_000113.3(TOR1A):c.646G>C (p.Asp216His)
|
rs1801968
|
0.10301
|
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
|
NM_001041.4(SI):c.4026A>G (p.Thr1342=)
|
rs74648160
|
0.10127
|
|
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=)
|
rs17394217
|
0.10011
|
|
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val)
|
rs12994774
|
0.09975
|
|
NM_000492.4(CFTR):c.1210-13G>T
|
rs10229820
|
0.09791
|
|
NM_001378615.1(CC2D2A):c.2003+19C>T
|
rs17476642
|
0.09677
|
|
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly)
|
rs3729989
|
0.09513
|
|
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu)
|
rs143793502
|
0.09373
|
|
NM_018668.5(VPS33B):c.151C>A (p.Arg51=)
|
rs11542638
|
0.09363
|
|
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)
|
rs11479
|
0.09354
|
|
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr)
|
rs17301182
|
0.08953
|
|
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala)
|
rs17301750
|
0.08745
|
|
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=)
|
rs61739560
|
0.08550
|
|
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=)
|
rs57593250
|
0.08546
|
|
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=)
|
rs34457678
|
0.08545
|
|
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=)
|
rs3729845
|
0.08311
|
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.08263
|
|
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)
|
rs35548026
|
0.08193
|
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
rs11669576
|
0.08075
|
|
NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=)
|
rs4840500
|
0.08074
|
|
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=)
|
rs16006
|
0.08064
|
|
NM_000041.2(APOE):c.526C>T (p.Arg176Cys)
|
rs7412
|
0.07986
|
|
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)
|
rs6092
|
0.07985
|
|
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln)
|
rs12968116
|
0.07804
|
|
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=)
|
rs591040
|
0.07695
|
|
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)
|
rs10254120
|
0.07451
|
|
NM_003476.5(CSRP3):c.336G>A (p.Ala112=)
|
rs13451
|
0.07238
|
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07211
|
|
NM_001377.3(DYNC2H1):c.12457-6C>T
|
rs11225812
|
0.07031
|
|
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg)
|
rs28711516
|
0.06950
|
|
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)
|
rs72657698
|
0.06836
|
|
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
|
rs1801701
|
0.06584
|
|
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)
|
rs2227935
|
0.06567
|
|
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)
|
rs735712
|
0.06133
|
|
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile)
|
rs5743291
|
0.06122
|
|
NM_001195248.2(APTX):c.484-12_484-11insG
|
rs377129152
|
0.06028
|
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06023
|
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
|
NM_001355436.2(SPTB):c.4564-4G>A
|
rs4902312
|
0.05860
|
|
NM_016373.4(WWOX):c.517-108230A>G
|
rs77067228
|
0.05744
|
|
NM_000165.5(GJA1):c.*3dup
|
rs397824185
|
0.05632
|
|
NM_000186.4(CFH):c.3138C>T (p.Thr1046=)
|
rs61822181
|
0.05563
|
|
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)
|
rs79241126
|
0.05477
|
|
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val)
|
rs73040625
|
0.05426
|
|
NM_000249.4(MLH1):c.1558+14G>A
|
rs41562513
|
0.05373
|
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
|
NM_002617.4(PEX10):c.279C>T (p.Gly93=)
|
rs1143016
|
0.05120
|
|
NM_206937.2(LIG4):c.8C>T (p.Ala3Val)
|
rs1805389
|
0.04996
|
|
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly)
|
rs73826339
|
0.04924
|
|
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)
|
rs6657239
|
0.04881
|
|
NM_014049.5(ACAD9):c.-44_-41dup
|
rs387906242
|
0.04863
|
|
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg)
|
rs35761929
|
0.04795
|
|
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)
|
rs17722172
|
0.04733
|
|
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)
|
rs6151428
|
0.04709
|
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
|
NM_006206.6(PDGFRA):c.368-3C>T
|
rs55947416
|
0.04639
|
|
NM_000257.4(MYH7):c.2923-18G>A
|
rs7157087
|
0.04493
|
|
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu)
|
rs12146610
|
0.04434
|
|
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn)
|
rs58022607
|
0.04393
|
|
NM_000492.4(CFTR):c.-8G>C
|
rs1800501
|
0.04368
|
|
NM_001204.7(BMPR2):c.853-21dup
|
rs11464745
|
0.04307
|
|
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)
|
rs35719359
|
0.04130
|
|
NM_004577.4(PSPH):c.169C>T (p.Pro57Ser)
|
rs79321413
|
0.04104
|
|
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)
|
rs11243406
|
0.04069
|
|
NM_004577.4(PSPH):c.203T>C (p.Leu68Pro)
|
rs78067484
|
0.04067
|
|
NM_032545.4(CFC1):c.61A>C (p.Asn21His)
|
rs199607550
|
0.03977
|
|
NM_174936.4(PCSK9):c.658-36G>A
|
rs11800265
|
0.03919
|
|
NM_002230.4(JUP):c.425G>A (p.Arg142His)
|
rs41283425
|
0.03910
|
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
|
NM_020975.6(RET):c.2508C>T (p.Ser836=)
|
rs1800862
|
0.03791
|
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03694
|
|
NM_003919.3(SGCE):c.1253+812G>A
|
rs559235992
|
0.03668
|
|
NM_000384.3(APOB):c.11904-7C>T
|
rs12720851
|
0.03622
|
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
|
NM_004577.4(PSPH):c.194G>A (p.Arg65His)
|
rs200442078
|
0.03604
|
|
NM_001710.6(CFB):c.26T>A (p.Leu9His)
|
rs4151667
|
0.03411
|
|
NM_001105206.3(LAMA4):c.1190-8C>G
|
rs73538515
|
0.03405
|
|
NM_000063.6(C2):c.954G>C (p.Glu318Asp)
|
rs9332739
|
0.03307
|
|
NM_001101.5(ACTB):c.942G>A (p.Gln314=)
|
rs11546939
|
0.03304
|
|
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)
|
rs35829419
|
0.03262
|
|
NM_007262.5(PARK7):c.234C>T (p.Gly78=)
|
rs11548937
|
0.03255
|
|
NM_002087.4(GRN):c.384T>C (p.Asp128=)
|
rs25646
|
0.03192
|
|
NM_000257.4(MYH7):c.1605A>G (p.Glu535=)
|
rs2069543
|
0.03103
|
|
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=)
|
rs5015
|
0.03041
|
|
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)
|
rs1801581
|
0.02951
|
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
|
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)
|
rs1800278
|
0.02886
|
|
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)
|
rs41305353
|
0.02876
|
|
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
|
rs533617
|
0.02869
|
|
NM_004415.4(DSP):c.423-16_423-15insC
|
rs113028223
|
0.02847
|
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
|
NM_022773.4(LMF1):c.1091G>A (p.Arg364Gln)
|
rs35168378
|
0.02818
|
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.02794
|
|
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp)
|
rs1800273
|
0.02767
|
|
NM_007078.3(LDB3):c.1074C>T (p.Ala358=)
|
rs45459491
|
0.02721
|
|
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)
|
rs35077384
|
0.02717
|
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
|
NM_002294.3(LAMP2):c.927C>T (p.Ser309=)
|
rs73219144
|
0.02702
|
|
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
|
rs12691202
|
0.02673
|
|
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr)
|
rs115532916
|
0.02662
|
|
NM_004415.4(DSP):c.913A>T (p.Ile305Phe)
|
rs17604693
|
0.02618
|
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
0.02617
|
|
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)
|
rs34211915
|
0.02614
|
|
NM_001927.4(DES):c.408C>T (p.Leu136=)
|
rs111828114
|
0.02597
|
|
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
|
rs79344818
|
0.02573
|
|
NM_004006.3(DMD):c.2623-11C>G
|
rs1028360
|
0.02567
|
|
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
|
rs1801695
|
0.02558
|
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
|
NM_024334.3(TMEM43):c.163-14C>T
|
rs113745859
|
0.02553
|
|
NM_024496.4(IRF2BPL):c.336_346del (p.Gln113fs)
|
rs776735350
|
0.02512
|
|
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=)
|
rs3795666
|
0.02483
|
|
NM_000257.4(MYH7):c.895+17G>A
|
rs45580436
|
0.02470
|
|
NM_004415.4(DSP):c.273+10C>T
|
rs56148603
|
0.02451
|
|
NM_001134363.3(RBM20):c.1801-11G>C
|
rs12572941
|
0.02426
|
|
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu)
|
rs72648986
|
0.02419
|
|
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln)
|
rs8187801
|
0.02405
|
|
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp)
|
rs61735268
|
0.02395
|
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02384
|
|
NM_000513.2(OPN1MW):c.521C>T (p.Ala174Val)
|
rs372044027
|
0.02377
|
|
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His)
|
rs72648970
|
0.02369
|
|
NM_001035.3(RYR2):c.8437-7dup
|
rs148246251
|
0.02365
|
|
NM_001035.3(RYR2):c.9449+8T>A
|
rs60777199
|
0.02348
|
|
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)
|
rs13021201
|
0.02340
|
|
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr)
|
rs41311343
|
0.02332
|
|
NM_006440.5(TXNRD2):c.374+13C>T
|
rs9606178
|
0.02314
|
|
NM_133379.5(TTN):c.13476C>T (p.Asp4492=)
|
rs72648904
|
0.02282
|
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02278
|
|
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr)
|
rs7908490
|
0.02263
|
|
NM_004006.3(DMD):c.8762A>G (p.His2921Arg)
|
rs1800279
|
0.02191
|
|
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile)
|
rs116605521
|
0.02188
|
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
|
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=)
|
rs3218719
|
0.02170
|
|
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)
|
rs35445420
|
0.02143
|
|
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=)
|
rs138705766
|
0.02134
|
|
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)
|
rs11555096
|
0.02131
|
|
NM_004006.3(DMD):c.4878G>T (p.Val1626=)
|
rs61733574
|
0.02120
|
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
|
NM_001267550.2(TTN):c.67635T>C (p.Val22545=)
|
rs2288570
|
0.02106
|
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
|
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly)
|
rs72648982
|
0.02056
|
|
NM_001267550.2(TTN):c.37040-13A>G
|
rs760603937
|
0.02053
|
|
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=)
|
rs56034831
|
0.02043
|
|
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=)
|
rs72648932
|
0.02023
|
|
NM_001267550.2(TTN):c.86811A>G (p.Val28937=)
|
rs55972010
|
0.02018
|
|
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)
|
rs11694623
|
0.01999
|
|
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys)
|
rs56057221
|
0.01984
|
|
NM_001927.4(DES):c.1026C>T (p.Asn342=)
|
rs61731508
|
0.01984
|
|
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=)
|
rs72648260
|
0.01980
|
|
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=)
|
rs55895721
|
0.01979
|
|
NM_000059.4(BRCA2):c.7397= (p.Val2466=)
|
rs169547
|
0.01961
|
|
NM_001927.4(DES):c.372G>A (p.Glu124=)
|
rs34365369
|
0.01950
|
|
NM_000384.3(APOB):c.9004C>T (p.Leu3002=)
|
rs12713600
|
0.01938
|
|
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser)
|
rs72650006
|
0.01912
|
|
NM_133379.5(TTN):c.13869T>G (p.Ser4623=)
|
rs72648906
|
0.01910
|
|
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
|
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=)
|
rs35042032
|
0.01889
|
|
NM_001035.3(RYR2):c.11557+19C>T
|
rs113408406
|
0.01877
|
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
|
NM_000168.6(GLI3):c.2835G>C (p.Leu945=)
|
rs61758978
|
0.01858
|
|
NM_000257.4(MYH7):c.975C>T (p.Asp325=)
|
rs2231124
|
0.01847
|
|
NM_001927.4(DES):c.-30_-18dup
|
rs794728983
|
0.01846
|
|
NM_001267550.2(TTN):c.87669T>C (p.His29223=)
|
rs72648229
|
0.01840
|
|
NM_001267550.2(TTN):c.49648+16T>C
|
rs57677875
|
0.01831
|
|
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile)
|
rs56309296
|
0.01826
|
|
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr)
|
rs56365600
|
0.01825
|
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01796
|
|
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn)
|
rs72647843
|
0.01782
|
|
NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
|
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)
|
rs41315858
|
0.01767
|
|
NM_001267550.2(TTN):c.22611T>C (p.His7537=)
|
rs16866469
|
0.01765
|
|
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)
|
rs28730701
|
0.01764
|
|
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)
|
rs41278174
|
0.01757
|
|
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)
|
rs61740288
|
0.01748
|
|
NM_177438.3(DICER1):c.4206+9_4206+17del
|
rs772457274
|
0.01738
|
|
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=)
|
rs75206601
|
0.01733
|
|
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)
|
rs61340537
|
0.01730
|
|
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)
|
rs56027402
|
0.01724
|
|
NM_133379.5(TTN):c.13165G>A (p.Val4389Ile)
|
rs72648903
|
0.01724
|
|
NM_003476.5(CSRP3):c.312C>G (p.Thr104=)
|
rs45582433
|
0.01721
|
|
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
|
rs1801699
|
0.01706
|
|
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe)
|
rs57389274
|
0.01681
|
|
NM_004006.3(DMD):c.832-17C>A
|
rs72470514
|
0.01678
|
|
NM_001267550.2(TTN):c.36855G>A (p.Pro12285=)
|
rs535294541
|
0.01666
|
|
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys)
|
rs72648987
|
0.01659
|
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
|
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg)
|
rs5742912
|
0.01653
|
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01651
|
|
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val)
|
rs72648954
|
0.01649
|
|
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)
|
rs72647851
|
0.01643
|
|
NM_001105206.3(LAMA4):c.196-12T>C
|
rs78871662
|
0.01627
|
|
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val)
|
rs35910969
|
0.01619
|
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
|
NM_000021.4(PSEN1):c.1248+8T>C
|
rs362382
|
0.01609
|
|
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)
|
rs17472401
|
0.01606
|
|
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln)
|
rs111656822
|
0.01603
|
|
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg)
|
rs34423165
|
0.01591
|
|
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=)
|
rs75858380
|
0.01586
|
|
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)
|
rs72648962
|
0.01586
|
|
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=)
|
rs72646847
|
0.01577
|
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01574
|
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
|
NM_001171.6(ABCC6):c.3507-3C>T
|
rs41278172
|
0.01548
|
|
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)
|
rs6725673
|
0.01548
|
|
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr)
|
rs744427
|
0.01542
|
|
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)
|
rs2227924
|
0.01541
|
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01532
|
|
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly)
|
rs56229512
|
0.01531
|
|
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
|
rs12720855
|
0.01525
|
|
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp)
|
rs12713675
|
0.01524
|
|
NM_001267550.2(TTN):c.52706-17A>G
|
rs72646807
|
0.01524
|
|
NM_003194.5(TBP):c.231_243del (p.Gln77fs)
|
rs771725566
|
0.01524
|
|
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
|
rs61743299
|
0.01522
|
|
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val)
|
rs56376197
|
0.01516
|
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
|
NM_004006.3(DMD):c.832-18C>G
|
rs72470515
|
0.01505
|
|
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe)
|
rs33917087
|
0.01497
|
|
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=)
|
rs61001398
|
0.01493
|
|
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys)
|
rs79926414
|
0.01477
|
|
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln)
|
rs61995925
|
0.01476
|
|
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His)
|
rs56307213
|
0.01453
|
|
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)
|
rs74874677
|
0.01453
|
|
NM_001276345.2(TNNT2):c.163+12G>A
|
rs45580032
|
0.01441
|
|
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=)
|
rs11570097
|
0.01438
|
|
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val)
|
rs34070843
|
0.01430
|
|
NM_000251.3(MSH2):c.1077-10T>C
|
rs17224360
|
0.01428
|
|
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=)
|
rs66523653
|
0.01416
|
|
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys)
|
rs62618736
|
0.01410
|
|
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp)
|
rs147979536
|
0.01406
|
|
NM_000051.4(ATM):c.2685A>G (p.Leu895=)
|
rs3218687
|
0.01393
|
|
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr)
|
rs36043230
|
0.01390
|
|
NM_019892.6(INPP5E):c.1388-13C>T
|
rs78828148
|
0.01390
|
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
|
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)
|
rs1801158
|
0.01373
|
|
NM_000447.3(PSEN2):c.441C>T (p.Ser147=)
|
rs114334281
|
0.01358
|
|
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn)
|
rs72955213
|
0.01357
|
|
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)
|
rs141736123
|
0.01357
|
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
|
NM_133379.5(TTN):c.13478A>C (p.Lys4493Thr)
|
rs78457662
|
0.01346
|
|
NM_001105206.3(LAMA4):c.195+144T>C
|
rs147118520
|
0.01345
|
|
NM_002471.4(MYH6):c.399G>A (p.Val133=)
|
rs78891557
|
0.01343
|
|
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val)
|
rs55948748
|
0.01336
|
|
NM_133379.5(TTN):c.13608C>T (p.Ser4536=)
|
rs72648905
|
0.01336
|
|
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=)
|
rs7140196
|
0.01334
|
|
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)
|
rs56324595
|
0.01324
|
|
NM_000257.4(MYH7):c.1002C>T (p.Asn334=)
|
rs34803781
|
0.01316
|
|
NM_001267550.2(TTN):c.37009C>T (p.Pro12337Ser)
|
rs201474544
|
0.01309
|
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
|
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=)
|
rs73098087
|
0.01305
|
|
NM_004415.4(DSP):c.4773G>A (p.Arg1591=)
|
rs28763968
|
0.01304
|
|
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=)
|
rs2228387
|
0.01303
|
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
|
NM_032578.4(MYPN):c.2925+9G>C
|
rs12241644
|
0.01302
|
|
NM_014687.4(RUBCN):c.2126C>T (p.Thr709Met)
|
rs35071969
|
0.01298
|
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01296
|
|
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)
|
rs41303285
|
0.01295
|
|
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=)
|
rs56226196
|
0.01290
|
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
|
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)
|
rs55742743
|
0.01280
|
|
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys)
|
rs72646869
|
0.01270
|
|
NM_001035.3(RYR2):c.6928+4G>A
|
rs79862521
|
0.01267
|
|
NM_003119.4(SPG7):c.9G>T (p.Val3=)
|
rs553241838
|
0.01255
|
|
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)
|
rs80325569
|
0.01244
|
|
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys)
|
rs116676813
|
0.01242
|
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01231
|
|
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=)
|
rs35404804
|
0.01226
|
|
NM_001267550.2(TTN):c.2949C>T (p.Ile983=)
|
rs56310516
|
0.01223
|
|
NM_004006.3(DMD):c.3021G>A (p.Ser1007=)
|
rs1800268
|
0.01219
|
|
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=)
|
rs9770044
|
0.01204
|
|
NM_002693.3(POLG):c.2254C>T (p.Leu752=)
|
rs41564016
|
0.01204
|
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
|
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)
|
rs55977045
|
0.01192
|
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01180
|
|
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val)
|
rs72647877
|
0.01178
|
|
NM_145046.5(CALR3):c.861G>A (p.Thr287=)
|
rs118131979
|
0.01174
|
|
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg)
|
rs17355460
|
0.01172
|
|
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)
|
rs55801134
|
0.01166
|
|
NM_004415.4(DSP):c.3963G>A (p.Gln1321=)
|
rs61731476
|
0.01161
|
|
NM_000257.4(MYH7):c.3972+15C>T
|
rs3729820
|
0.01159
|
|
NM_001943.5(DSG2):c.217-5G>T
|
rs80073511
|
0.01156
|
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
|
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro)
|
rs62621206
|
0.01151
|
|
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)
|
rs55880440
|
0.01150
|
|
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=)
|
rs114145817
|
0.01143
|
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
|
NM_000203.5(IDUA):c.1174C>T (p.Leu392=)
|
rs201682298
|
0.01139
|
|
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)
|
rs67041405
|
0.01136
|
|
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)
|
rs72646809
|
0.01131
|
|
NM_030665.4(RAI1):c.840_849del (p.Gln280fs)
|
rs760854027
|
0.01119
|
|
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=)
|
rs72648935
|
0.01116
|
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
|
NM_001035.3(RYR2):c.10230+20T>C
|
rs74323916
|
0.01096
|
|
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)
|
rs77853750
|
0.01096
|
|
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)
|
rs55865284
|
0.01093
|
|
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=)
|
rs62426382
|
0.01086
|
|
NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp)
|
rs117918077
|
0.01085
|
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
|
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)
|
rs36021856
|
0.01079
|
|
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)
|
rs55842557
|
0.01073
|
|
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu)
|
rs34629171
|
0.01070
|
|
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=)
|
rs34753919
|
0.01070
|
|
NM_001276345.2(TNNT2):c.294+7G>A
|
rs45490292
|
0.01066
|
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
|
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)
|
rs67254537
|
0.01037
|
|
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)
|
rs66961115
|
0.01037
|
|
NM_001184.4(ATR):c.891G>C (p.Lys297Asn)
|
rs2229033
|
0.01036
|
|
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=)
|
rs73036373
|
0.01031
|
|
NM_001035.3(RYR2):c.2397-6C>T
|
rs78165942
|
0.01029
|
|
NM_005633.4(SOS1):c.1203-20T>C
|
rs112906251
|
0.01029
|
|
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)
|
rs35523678
|
0.01028
|
|
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=)
|
rs72955212
|
0.01027
|
|
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)
|
rs56375087
|
0.01024
|
|
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)
|
rs140740776
|
0.01021
|
|
NM_001943.5(DSG2):c.3243C>T (p.Val1081=)
|
rs11542379
|
0.01020
|
|
NM_001035.3(RYR2):c.6440+20C>T
|
rs115755128
|
0.01016
|
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01016
|
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
|
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)
|
rs73038314
|
0.01013
|
|
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met)
|
rs117761837
|
0.01011
|
|
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile)
|
rs1800269
|
0.01009
|
|
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp)
|
rs4253047
|
0.01008
|
|
NM_177438.3(DICER1):c.4206+9del
|
rs368080354
|
0.01007
|
|
NM_198428.3(BBS9):c.2299-20A>C
|
rs17727583
|
0.01007
|
|
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln)
|
rs41289902
|
0.01004
|
|
NM_002471.4(MYH6):c.2946G>A (p.Glu982=)
|
rs145274612
|
0.01001
|
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
|
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=)
|
rs78369334
|
0.00989
|
|
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile)
|
rs72646850
|
0.00987
|
|
NM_014314.4(RIGI):c.212G>A (p.Arg71His)
|
rs72710678
|
0.00981
|
|
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=)
|
rs141815642
|
0.00973
|
|
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)
|
rs140118273
|
0.00973
|
|
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)
|
rs34819099
|
0.00971
|
|
NM_018100.4(EFHC1):c.881G>A (p.Arg294His)
|
rs1570624
|
0.00969
|
|
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr)
|
rs150682895
|
0.00967
|
|
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)
|
rs114814747
|
0.00964
|
|
NM_007137.5(ZNF81):c.554C>T (p.Ser185Leu)
|
rs186251256
|
0.00955
|
|
NM_000250.2(MPO):c.752T>C (p.Met251Thr)
|
rs56378716
|
0.00954
|
|
NM_001324144.2(ZNF41):c.945T>G (p.Asp315Glu)
|
rs2498170
|
0.00954
|
|
NM_001035.3(RYR2):c.2204-7C>G
|
rs147479514
|
0.00944
|
|
NM_004415.4(DSP):c.3510G>A (p.Glu1170=)
|
rs28763964
|
0.00942
|
|
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
|
rs41297018
|
0.00940
|
|
NM_004415.4(DSP):c.6390T>C (p.Ala2130=)
|
rs28763969
|
0.00940
|
|
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=)
|
rs147871745
|
0.00930
|
|
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=)
|
rs373345984
|
0.00929
|
|
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=)
|
rs17851524
|
0.00928
|
|
NM_000203.5(IDUA):c.299+6C>T
|
rs147498923
|
0.00927
|
|
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)
|
rs28763967
|
0.00925
|
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
|
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg)
|
rs111449472
|
0.00921
|
|
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=)
|
rs62178963
|
0.00915
|
|
NM_001927.4(DES):c.1375G>A (p.Val459Ile)
|
rs73991549
|
0.00915
|
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
|
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu)
|
rs72629787
|
0.00909
|
|
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)
|
rs116474260
|
0.00908
|
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
|
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=)
|
rs117020413
|
0.00908
|
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
|
NM_004100.5(EYA4):c.1845C>T (p.Asn615=)
|
rs142721902
|
0.00903
|
|
NM_007254.4(PNKP):c.1127-8C>T
|
rs3739203
|
0.00901
|
|
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu)
|
rs45592139
|
0.00899
|
|
NM_015192.4(PLCB1):c.2413+9C>T
|
rs138442805
|
0.00899
|
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00891
|
|
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)
|
rs11570680
|
0.00890
|
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
|
NM_000257.4(MYH7):c.597A>G (p.Ala199=)
|
rs2069541
|
0.00877
|
|
NM_020975.6(RET):c.375C>A (p.Val125=)
|
rs1800859
|
0.00877
|
|
NM_003919.3(SGCE):c.1253+814G>A
|
rs183951730
|
0.00875
|
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
|
NM_007078.3(LDB3):c.1506G>A (p.Pro502=)
|
rs45579241
|
0.00863
|
|
NM_020297.4(ABCC9):c.*19T>C
|
rs114906131
|
0.00862
|
|
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)
|
rs3729823
|
0.00861
|
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
|
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=)
|
rs41311123
|
0.00859
|
|
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu)
|
rs3188691
|
0.00856
|
|
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=)
|
rs140237315
|
0.00855
|
|
NM_032578.4(MYPN):c.1245+20A>G
|
rs111634581
|
0.00851
|
|
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=)
|
rs73025979
|
0.00850
|
|
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn)
|
rs117983287
|
0.00850
|
|
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp)
|
rs5030672
|
0.00847
|
|
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val)
|
rs75937132
|
0.00847
|
|
NM_000384.3(APOB):c.2604+15G>C
|
rs72653066
|
0.00842
|
|
NM_024334.3(TMEM43):c.222C>T (p.Pro74=)
|
rs34099410
|
0.00841
|
|
NM_024422.6(DSC2):c.351A>G (p.Thr117=)
|
rs117812913
|
0.00832
|
|
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)
|
rs2754155
|
0.00831
|
|
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys)
|
rs55861600
|
0.00828
|
|
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)
|
rs72646893
|
0.00826
|
|
NM_174936.4(PCSK9):c.141C>T (p.Ser47=)
|
rs28385701
|
0.00824
|
|
NM_001386795.1(DTNA):c.2162+14G>A
|
rs76713874
|
0.00820
|
|
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=)
|
rs142359891
|
0.00815
|
|
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)
|
rs45578741
|
0.00813
|
|
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)
|
rs115582213
|
0.00811
|
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
|
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)
|
rs41313301
|
0.00809
|
|
NM_000320.3(QDPR):c.96C>T (p.Ala32=)
|
rs2518608
|
0.00808
|
|
NM_133379.5(TTN):c.14244T>C (p.Leu4748=)
|
rs139669372
|
0.00806
|
|
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=)
|
rs77898819
|
0.00804
|
|
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=)
|
rs56310931
|
0.00799
|
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00799
|
|
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)
|
rs55806007
|
0.00798
|
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
|
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe)
|
rs62109744
|
0.00795
|
|
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)
|
rs61750974
|
0.00790
|
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
|
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
|
rs115658240
|
0.00782
|
|
NM_001276345.2(TNNT2):c.68-8A>G
|
rs115805892
|
0.00782
|
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
|
NM_002693.3(POLG):c.3597C>A (p.Thr1199=)
|
rs2307443
|
0.00770
|
|
NM_148919.4(PSMB8):c.220A>T (p.Thr74Ser)
|
rs17220206
|
0.00770
|
|
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile)
|
rs61688134
|
0.00769
|
|
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met)
|
rs78461695
|
0.00769
|
|
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
|
rs12720854
|
0.00761
|
|
NM_182961.4(SYNE1):c.156T>C (p.Asp52=)
|
rs139156106
|
0.00761
|
|
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)
|
rs45606534
|
0.00759
|
|
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)
|
rs61730035
|
0.00758
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
rs72658867
|
0.00757
|
|
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=)
|
rs150612172
|
0.00757
|
|
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe)
|
rs3747333
|
0.00756
|
|
NM_005138.3(SCO2):c.763C>A (p.Arg255=)
|
rs112793292
|
0.00755
|
|
NM_014391.3(ANKRD1):c.-17A>G
|
rs79341122
|
0.00753
|
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
|
NM_004006.3(DMD):c.3603+8A>G
|
rs193249735
|
0.00743
|
|
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=)
|
rs111033429
|
0.00742
|
|
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr)
|
rs116826041
|
0.00739
|
|
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)
|
rs72549415
|
0.00737
|
|
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
|
rs148398509
|
0.00737
|
|
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
|
rs12713844
|
0.00735
|
|
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
|
rs116192290
|
0.00735
|
|
NM_002230.4(JUP):c.1942G>A (p.Val648Ile)
|
rs143043662
|
0.00735
|
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
|
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=)
|
rs111638554
|
0.00728
|
|
NM_004085.4(TIMM8A):c.-6C>T
|
rs180806413
|
0.00726
|
|
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr)
|
rs138787974
|
0.00725
|
|
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=)
|
rs74321406
|
0.00724
|
|
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
|
rs12714225
|
0.00723
|
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00722
|
|
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)
|
rs143004808
|
0.00716
|
|
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn)
|
rs179363896
|
0.00715
|
|
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)
|
rs72468681
|
0.00714
|
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00714
|
|
NM_002230.4(JUP):c.1563A>G (p.Ala521=)
|
rs149926974
|
0.00712
|
|
NM_201378.4(PLEC):c.71-11718C>T
|
rs190222339
|
0.00712
|
|
NM_001267550.2(TTN):c.50551+20C>T
|
rs67636125
|
0.00708
|
|
NM_000512.5(GALNS):c.775C>A (p.Arg259=)
|
rs61742258
|
0.00707
|
|
NM_000360.4(TH):c.684G>A (p.Glu228=)
|
rs11564716
|
0.00706
|
|
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)
|
rs73202048
|
0.00704
|
|
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)
|
rs71653619
|
0.00704
|
|
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=)
|
rs72646832
|
0.00703
|
|
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys)
|
rs72646833
|
0.00702
|
|
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)
|
rs17452588
|
0.00701
|
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
|
NM_213599.3(ANO5):c.1545A>G (p.Ser515=)
|
rs35843353
|
0.00699
|
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
|
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn)
|
rs17354992
|
0.00698
|
|
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)
|
rs139344924
|
0.00698
|
|
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=)
|
rs12474306
|
0.00697
|
|
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=)
|
rs72646827
|
0.00697
|
|
NM_001267550.2(TTN):c.32722+9G>A
|
rs148231130
|
0.00695
|
|
NM_001927.4(DES):c.735+20C>T
|
rs151226355
|
0.00694
|
|
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
|
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)
|
rs55984131
|
0.00693
|
|
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)
|
rs61757217
|
0.00689
|
|
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=)
|
rs148865812
|
0.00677
|
|
NM_000320.3(QDPR):c.105+17G>A
|
rs149373480
|
0.00676
|
|
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)
|
rs72648937
|
0.00675
|
|
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=)
|
rs117485827
|
0.00672
|
|
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=)
|
rs114908705
|
0.00671
|
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
|
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=)
|
rs144876996
|
0.00670
|
|
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
|
rs1042023
|
0.00669
|
|
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=)
|
rs28997580
|
0.00668
|
|
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=)
|
rs72648258
|
0.00667
|
|
NM_001378615.1(CC2D2A):c.541-20T>G
|
rs114335547
|
0.00664
|
|
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)
|
rs146708884
|
0.00660
|
|
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)
|
rs12735723
|
0.00660
|
|
NM_001267550.2(TTN):c.45083-10A>G
|
rs72677222
|
0.00656
|
|
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)
|
rs34562585
|
0.00654
|
|
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu)
|
rs16962093
|
0.00654
|
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00653
|
|
NM_006846.4(SPINK5):c.1322G>A (p.Arg441His)
|
rs34393923
|
0.00653
|
|
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu)
|
rs143119940
|
0.00650
|
|
NM_001082971.2(DDC):c.436-12T>C
|
rs144962948
|
0.00650
|
|
NM_018714.3(COG1):c.1049C>T (p.Thr350Met)
|
rs117344829
|
0.00650
|
|
NM_018136.5(ASPM):c.3742-10T>G
|
rs41299587
|
0.00649
|
|
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys)
|
rs116125936
|
0.00644
|
|
NM_001035.3(RYR2):c.576+7G>C
|
rs10925392
|
0.00643
|
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00640
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
rs72658861
|
0.00640
|
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
|
NM_005045.4(RELN):c.6078C>T (p.Asn2026=)
|
rs79610081
|
0.00635
|
|
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly)
|
rs146983095
|
0.00634
|
|
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=)
|
rs77257306
|
0.00632
|
|
NM_032119.4(ADGRV1):c.10769+9A>G
|
rs116184119
|
0.00631
|
|
NM_000460.4(THPO):c.-259G>A
|
rs41266279
|
0.00629
|
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
|
NM_020529.3(NFKBIA):c.548-3C>T
|
rs2233418
|
0.00626
|
|
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)
|
rs72648244
|
0.00625
|
|
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)
|
rs115744476
|
0.00623
|
|
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=)
|
rs138477292
|
0.00622
|
|
NM_000447.3(PSEN2):c.756G>C (p.Ala252=)
|
rs147702142
|
0.00621
|
|
NM_004006.3(DMD):c.3787-18T>C
|
rs72468656
|
0.00621
|
|
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)
|
rs144080386
|
0.00620
|
|
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=)
|
rs187810163
|
0.00617
|
|
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)
|
rs56181243
|
0.00615
|
|
NM_033305.3(VPS13A):c.9400-15A>C
|
rs117688596
|
0.00615
|
|
NM_002764.4(PRPS1):c.477C>T (p.Ile159=)
|
rs61752962
|
0.00614
|
|
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe)
|
rs34618570
|
0.00613
|
|
NM_032119.4(ADGRV1):c.2553+11T>A
|
rs73181640
|
0.00612
|
|
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)
|
rs56345408
|
0.00611
|
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
|
NM_001035.3(RYR2):c.14299-12A>G
|
rs41267519
|
0.00609
|
|
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu)
|
rs72768728
|
0.00609
|
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00608
|
|
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=)
|
rs76771282
|
0.00607
|
|
NM_000337.6(SGCD):c.294+8T>C
|
rs11748588
|
0.00606
|
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00603
|
|
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala)
|
rs117804715
|
0.00599
|
|
NM_000059.4(BRCA2):c.9257-16T>C
|
rs11571818
|
0.00597
|
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
|
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)
|
rs142558269
|
0.00591
|
|
NM_024422.6(DSC2):c.1719C>T (p.Asn573=)
|
rs140167653
|
0.00590
|
|
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=)
|
rs6351
|
0.00589
|
|
NM_004415.4(DSP):c.105G>A (p.Gly35=)
|
rs77445784
|
0.00587
|
|
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)
|
rs121908338
|
0.00584
|
|
NM_000384.3(APOB):c.129G>C (p.Ala43=)
|
rs12720850
|
0.00580
|
|
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu)
|
rs140909116
|
0.00580
|
|
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)
|
rs45527834
|
0.00578
|
|
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)
|
rs35078470
|
0.00577
|
|
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)
|
rs148144444
|
0.00577
|
|
NM_033305.3(VPS13A):c.6379-17T>G
|
rs373072093
|
0.00577
|
|
NM_033629.6(TREX1):c.462T>C (p.Asp154=)
|
rs3135944
|
0.00576
|
|
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=)
|
rs45624133
|
0.00575
|
|
NM_001134363.3(RBM20):c.1881-3C>T
|
rs138436392
|
0.00575
|
|
NM_014687.4(RUBCN):c.1971C>T (p.Ala657=)
|
rs148884163
|
0.00574
|
|
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)
|
rs72646885
|
0.00573
|
|
NM_006031.6(PCNT):c.8752-5A>C
|
rs149444205
|
0.00573
|
|
NM_031418.4(ANO3):c.1968C>T (p.Ile656=)
|
rs149050831
|
0.00572
|
|
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu)
|
rs33971253
|
0.00570
|
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
0.00567
|
|
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)
|
rs72646857
|
0.00566
|
|
NM_001035.3(RYR2):c.1292+20C>T
|
rs182050281
|
0.00565
|
|
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
|
rs1801703
|
0.00562
|
|
NM_000384.3(APOB):c.10131G>A (p.Leu3377=)
|
rs1799812
|
0.00560
|
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
|
NM_001909.5(CTSD):c.1072-7G>A
|
rs149019571
|
0.00560
|
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00559
|
|
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=)
|
rs138123155
|
0.00559
|
|
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu)
|
rs117128556
|
0.00558
|
|
NM_015570.4(AUTS2):c.2784C>T (p.Ala928=)
|
rs79439293
|
0.00558
|
|
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
|
rs72654423
|
0.00557
|
|
NM_138295.5(PKD1L1):c.5467G>A (p.Asp1823Asn)
|
rs116988549
|
0.00557
|
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00554
|
|
NM_000384.3(APOB):c.905-15C>G
|
rs72653061
|
0.00554
|
|
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)
|
rs189569984
|
0.00554
|
|
NM_002230.4(JUP):c.1774-13C>T
|
rs116772523
|
0.00553
|
|
NM_001035.3(RYR2):c.14809-15C>G
|
rs790897
|
0.00551
|
|
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=)
|
rs117995220
|
0.00547
|
|
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=)
|
rs72650003
|
0.00545
|
|
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)
|
rs72650031
|
0.00544
|
|
NM_174936.4(PCSK9):c.720C>T (p.Gly240=)
|
rs41297883
|
0.00544
|
|
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)
|
rs57474185
|
0.00543
|
|
NM_001159699.2(FHL1):c.204+5C>T
|
rs182106777
|
0.00542
|
|
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu)
|
rs61746932
|
0.00542
|
|
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp)
|
rs139078629
|
0.00542
|
|
NM_004247.4(EFTUD2):c.1058+3_1058+7del
|
rs536749831
|
0.00538
|
|
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)
|
rs74897360
|
0.00538
|
|
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His)
|
rs72677237
|
0.00536
|
|
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)
|
rs35028636
|
0.00535
|
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00534
|
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
|
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser)
|
rs41312157
|
0.00531
|
|
NM_024408.4(NOTCH2):c.456C>T (p.Pro152=)
|
rs143287927
|
0.00531
|
|
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)
|
rs45447891
|
0.00530
|
|
NM_002471.4(MYH6):c.2579G>A (p.Arg860His)
|
rs115845031
|
0.00529
|
|
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=)
|
rs60218977
|
0.00526
|
|
NM_032578.4(MYPN):c.1134C>T (p.Ile378=)
|
rs145701607
|
0.00526
|
|
NM_024589.3(ROGDI):c.713G>A (p.Arg238His)
|
rs138409264
|
0.00525
|
|
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=)
|
rs115652716
|
0.00524
|
|
NM_003738.5(PTCH2):c.840T>C (p.Ser280=)
|
rs147627670
|
0.00524
|
|
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=)
|
rs45600931
|
0.00523
|
|
NM_000360.4(TH):c.267G>A (p.Arg89=)
|
rs76240471
|
0.00521
|
|
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile)
|
rs35012521
|
0.00520
|
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
|
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=)
|
rs145376880
|
0.00518
|
|
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala)
|
rs61743502
|
0.00516
|
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
|
NM_000210.4(ITGA6):c.2728G>A (p.Asp910Asn)
|
rs61737182
|
0.00515
|
|
NM_001131016.2(CIZ1):c.1170G>T (p.Gln390His)
|
rs61740197
|
0.00514
|
|
NM_001077653.2(TBX20):c.1017A>C (p.Thr339=)
|
rs112054378
|
0.00512
|
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
|
NM_006846.4(SPINK5):c.2667-4G>A
|
rs180955184
|
0.00511
|
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
|
NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
|
rs191143292
|
0.00508
|
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
|
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)
|
rs45540831
|
0.00505
|
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00504
|
|
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=)
|
rs147891446
|
0.00504
|
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
|
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=)
|
rs79970751
|
0.00503
|
|
NM_000335.5(SCN5A):c.3508+10C>T
|
rs41258454
|
0.00502
|
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00501
|
|
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
|
rs1799816
|
0.00500
|
|
NM_002578.5(PAK3):c.276+2659T>C
|
rs142890115
|
0.00497
|
|
NM_000251.3(MSH2):c.984C>T (p.Ala328=)
|
rs4987189
|
0.00495
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
rs45508991
|
0.00495
|
|
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=)
|
rs140001300
|
0.00493
|
|
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)
|
rs200642629
|
0.00491
|
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00490
|
|
NM_002471.4(MYH6):c.330G>A (p.Ala110=)
|
rs77679218
|
0.00490
|
|
NM_016233.2(PADI3):c.335T>A (p.Leu112His)
|
rs142129409
|
0.00490
|
|
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys)
|
rs144665682
|
0.00490
|
|
NM_033629.6(TREX1):c.198G>A (p.Lys66=)
|
rs3135943
|
0.00490
|
|
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile)
|
rs61752970
|
0.00489
|
|
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser)
|
rs61743977
|
0.00489
|
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
|
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)
|
rs73155056
|
0.00487
|
|
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)
|
rs1800281
|
0.00486
|
|
NM_024334.3(TMEM43):c.162+21C>T
|
rs137975239
|
0.00485
|
|
NM_020297.4(ABCC9):c.2644-19G>A
|
rs73254534
|
0.00477
|
|
NM_133379.5(TTN):c.13455T>C (p.Pro4485=)
|
rs146470872
|
0.00477
|
|
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)
|
rs150642856
|
0.00476
|
|
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)
|
rs61742801
|
0.00476
|
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00475
|
|
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=)
|
rs144125742
|
0.00475
|
|
NM_004415.4(DSP):c.2630+18C>T
|
rs145963404
|
0.00475
|
|
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=)
|
rs62427038
|
0.00474
|
|
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00473
|
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
|
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr)
|
rs144830740
|
0.00471
|
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
|
NM_000257.4(MYH7):c.1579-17C>T
|
rs182949516
|
0.00470
|
|
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)
|
rs141947938
|
0.00470
|
|
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala)
|
rs75831573
|
0.00470
|
|
NM_031418.4(ANO3):c.164C>T (p.Ser55Phe)
|
rs61746297
|
0.00470
|
|
NM_001909.5(CTSD):c.353-12C>T
|
rs141523461
|
0.00468
|
|
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)
|
rs145191932
|
0.00466
|
|
NM_003476.5(CSRP3):c.213C>T (p.Ile71=)
|
rs45476991
|
0.00466
|
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00466
|
|
NM_024426.6(WT1):c.1114-9T>C
|
rs5030274
|
0.00465
|
|
NM_002204.4(ITGA3):c.929C>T (p.Ala310Val)
|
rs61730088
|
0.00464
|
|
NM_017849.4(TMEM127):c.409+7C>T
|
rs189327749
|
0.00463
|
|
NM_133459.4(CCBE1):c.195G>A (p.Glu65=)
|
rs116673304
|
0.00463
|
|
NM_001035.3(RYR2):c.1863C>T (p.His621=)
|
rs17686573
|
0.00460
|
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
|
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln)
|
rs150574114
|
0.00455
|
|
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)
|
rs13171868
|
0.00453
|
|
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)
|
rs111033338
|
0.00452
|
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
|
NM_002471.4(MYH6):c.1989C>T (p.Asn663=)
|
rs28730774
|
0.00451
|
|
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala)
|
rs61757684
|
0.00449
|
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
|
NM_033004.4(NLRP1):c.1599G>T (p.Gln533His)
|
rs112191372
|
0.00449
|
|
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp)
|
rs61744639
|
0.00449
|
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
|
NM_020297.4(ABCC9):c.285-16G>A
|
rs144825585
|
0.00448
|
|
NM_153638.4(PANK2):c.276G>A (p.Arg92=)
|
rs142832849
|
0.00448
|
|
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=)
|
rs112864477
|
0.00446
|
|
NM_001267550.2(TTN):c.*6C>A
|
rs188728343
|
0.00446
|
|
NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala)
|
rs111567318
|
0.00446
|
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
|
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)
|
rs61753399
|
0.00445
|
|
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=)
|
rs35647984
|
0.00445
|
|
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)
|
rs142351862
|
0.00444
|
|
NM_002471.4(MYH6):c.2168+17C>A
|
rs192337153
|
0.00443
|
|
NM_014000.3(VCL):c.1317T>C (p.Ser439=)
|
rs71579355
|
0.00442
|
|
NM_004281.4(BAG3):c.231G>A (p.Pro77=)
|
rs143752613
|
0.00441
|
|
NM_001386795.1(DTNA):c.210G>A (p.Leu70=)
|
rs117571555
|
0.00440
|
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00439
|
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
|
NM_058004.4(PI4KA):c.5235G>A (p.Ser1745=)
|
rs143539146
|
0.00439
|
|
NM_000317.3(PTS):c.315-3T>C
|
rs189365250
|
0.00436
|
|
NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp)
|
rs61734561
|
0.00436
|
|
NM_000096.4(CP):c.2522C>G (p.Thr841Arg)
|
rs56033670
|
0.00435
|
|
NM_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
|
NM_001267550.2(TTN):c.33742+11A>G
|
rs72650042
|
0.00433
|
|
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val)
|
rs72650029
|
0.00431
|
|
NM_001103.4(ACTN2):c.536+10C>T
|
rs141219516
|
0.00429
|
|
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=)
|
rs17073495
|
0.00429
|
|
NM_020297.4(ABCC9):c.142+15dup
|
rs571187142
|
0.00428
|
|
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
|
NM_000186.4(CFH):c.2850G>T (p.Gln950His)
|
rs149474608
|
0.00425
|
|
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)
|
rs61737992
|
0.00419
|
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
|
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn)
|
rs142027794
|
0.00417
|
|
NM_014000.3(VCL):c.1177-15C>T
|
rs115083446
|
0.00414
|
|
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=)
|
rs72549416
|
0.00413
|
|
NM_012213.3(MLYCD):c.799-16C>T
|
rs150789545
|
0.00413
|
|
NM_000520.6(HEXA):c.759G>A (p.Val253=)
|
rs117513345
|
0.00412
|
|
NM_005634.3(SOX3):c.157G>C (p.Val53Leu)
|
rs200361128
|
0.00412
|
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00411
|
|
NM_004006.3(DMD):c.7542+13A>G
|
rs72466585
|
0.00410
|
|
NM_033305.3(VPS13A):c.2037+8C>A
|
rs41289961
|
0.00410
|
|
NM_007078.3(LDB3):c.352G>A (p.Val118Met)
|
rs35507268
|
0.00408
|
|
NM_000335.5(SCN5A):c.717C>T (p.Ile239=)
|
rs41285129
|
0.00407
|
|
NM_000527.5(LDLR):c.941-39C>T
|
rs55792959
|
0.00407
|
|
NM_012179.4(FBXO7):c.122+9G>A
|
rs192327462
|
0.00407
|
|
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu)
|
rs72547554
|
0.00406
|
|
NM_022089.4(ATP13A2):c.*120A>T
|
rs41273151
|
0.00406
|
|
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser)
|
rs56098093
|
0.00404
|
|
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=)
|
rs146381488
|
0.00404
|
|
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met)
|
rs138108344
|
0.00403
|
|
NM_000360.4(TH):c.16G>A (p.Ala6Thr)
|
rs74555599
|
0.00402
|
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00400
|
|
NM_000384.3(APOB):c.8353A>C (p.Asn2785His)
|
rs2163204
|
0.00400
|
|
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=)
|
rs186670912
|
0.00400
|
|
NM_000432.4(MYL2):c.170-19T>C
|
rs115522476
|
0.00399
|
|
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=)
|
rs74085888
|
0.00398
|
|
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=)
|
rs56151652
|
0.00397
|
|
NM_002294.3(LAMP2):c.1093+2514G>A
|
rs144140265
|
0.00396
|
|
NM_001374828.1(ARID1B):c.3235+6C>T
|
rs148976215
|
0.00393
|
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00393
|
|
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile)
|
rs41289628
|
0.00391
|
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00391
|
|
NM_001257975.2(CIZ1):c.45G>T (p.Ala15=)
|
rs144814370
|
0.00390
|
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
|
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
|
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser)
|
rs147542347
|
0.00389
|
|
NM_001128205.2(SULF1):c.1111A>G (p.Ile371Val)
|
rs118056333
|
0.00389
|
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00388
|
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
|
NM_003119.4(SPG7):c.1653C>T (p.Arg551=)
|
rs56031686
|
0.00386
|
|
NM_004168.4(SDHA):c.456+20G>C
|
rs193283468
|
0.00385
|
|
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)
|
rs143906555
|
0.00382
|
|
NM_004360.5(CDH1):c.532-18C>T
|
rs200673941
|
0.00381
|
|
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu)
|
rs139432601
|
0.00381
|
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00380
|
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00378
|
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
|
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His)
|
rs41304892
|
0.00378
|
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
|
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)
|
rs34580776
|
0.00376
|
|
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter)
|
rs182004761
|
0.00376
|
|
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)
|
rs148197254
|
0.00374
|
|
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=)
|
rs34715591
|
0.00373
|
|
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)
|
rs146458524
|
0.00372
|
|
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu)
|
rs149910292
|
0.00372
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insC
|
rs201170241
|
0.00371
|
|
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=)
|
rs149670417
|
0.00370
|
|
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu)
|
rs61729226
|
0.00370
|
|
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser)
|
rs9885480
|
0.00369
|
|
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=)
|
rs35902788
|
0.00367
|
|
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)
|
rs2228980
|
0.00366
|
|
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=)
|
rs149775942
|
0.00366
|
|
NM_001267550.2(TTN):c.66160+16G>A
|
rs149714835
|
0.00364
|
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00364
|
|
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu)
|
rs35473230
|
0.00364
|
|
NM_001134363.3(RBM20):c.1275+13A>G
|
rs373230569
|
0.00363
|
|
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His)
|
rs60593994
|
0.00363
|
|
NM_133433.4(NIPBL):c.6109-3T>C
|
rs145778995
|
0.00363
|
|
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr)
|
rs182428755
|
0.00362
|
|
NM_001383.6(DPH1):c.731C>G (p.Pro244Arg)
|
rs80150196
|
0.00361
|
|
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)
|
rs146569520
|
0.00359
|
|
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)
|
rs114734921
|
0.00358
|
|
NM_015046.7(SETX):c.6108A>G (p.Gly2036=)
|
rs35815657
|
0.00358
|
|
NM_020778.5(ALPK3):c.2595C>T (p.Pro865=)
|
rs114957070
|
0.00358
|
|
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp)
|
rs200575795
|
0.00358
|
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310
|
0.00357
|
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00356
|
|
NM_001323289.2(CDKL5):c.145+17A>G
|
rs199814742
|
0.00356
|
|
NM_001114753.3(ENG):c.120C>T (p.Gly40=)
|
rs41522944
|
0.00355
|
|
NM_014000.3(VCL):c.1542C>T (p.Val514=)
|
rs7904077
|
0.00355
|
|
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=)
|
rs17215493
|
0.00354
|
|
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met)
|
rs146590898
|
0.00354
|
|
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)
|
rs78042826
|
0.00353
|
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
|
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)
|
rs144372453
|
0.00352
|
|
NM_003977.4(AIP):c.100-18C>T
|
rs202156895
|
0.00352
|
|
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)
|
rs41313693
|
0.00351
|
|
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
|
rs71473272
|
0.00351
|
|
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)
|
rs41313703
|
0.00349
|
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00349
|
|
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser)
|
rs55667289
|
0.00349
|
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00347
|
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00347
|
|
NM_002693.3(POLG):c.1126C>T (p.Leu376=)
|
rs116165908
|
0.00347
|
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
|
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=)
|
rs144537241
|
0.00345
|
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00344
|
|
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp)
|
rs28910273
|
0.00344
|
|
NM_000094.4(COL7A1):c.54G>C (p.Ala18=)
|
rs35899847
|
0.00343
|
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
|
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)
|
rs17881656
|
0.00342
|
|
NM_000271.5(NPC1):c.2795+19T>C
|
rs200103695
|
0.00342
|
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00342
|
|
NM_007078.3(LDB3):c.1263G>A (p.Gly421=)
|
rs139834701
|
0.00342
|
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
|
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=)
|
rs45548237
|
0.00341
|
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00340
|
|
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=)
|
rs116413446
|
0.00337
|
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00337
|
|
NM_000421.5(KRT10):c.135A>G (p.Gly45=)
|
rs150048434
|
0.00336
|
|
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)
|
rs115784602
|
0.00336
|
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
|
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)
|
rs72648964
|
0.00335
|
|
NM_139058.3(ARX):c.1671G>A (p.Thr557=)
|
rs190910161
|
0.00335
|
|
NM_000504.4(F10):c.424G>A (p.Glu142Lys)
|
rs61753266
|
0.00334
|
|
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)
|
rs116908219
|
0.00333
|
|
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg)
|
rs116593093
|
0.00333
|
|
NM_001271.4(CHD2):c.2577+7T>C
|
rs146944583
|
0.00332
|
|
NM_004360.5(CDH1):c.833-16C>G
|
rs33984587
|
0.00332
|
|
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg)
|
rs143253411
|
0.00332
|
|
NM_001378414.1(HDAC4):c.958G>A (p.Val320Ile)
|
rs73000144
|
0.00328
|
|
NM_001386795.1(DTNA):c.1435-19T>C
|
rs141620769
|
0.00328
|
|
NM_000687.4(AHCY):c.274A>G (p.Ile92Val)
|
rs11552695
|
0.00327
|
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00326
|
|
NM_006306.4(SMC1A):c.855-15C>T
|
rs147791932
|
0.00326
|
|
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)
|
rs181769913
|
0.00324
|
|
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr)
|
rs72648923
|
0.00324
|
|
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)
|
rs56351817
|
0.00324
|
|
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=)
|
rs201059992
|
0.00323
|
|
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln)
|
rs201840554
|
0.00323
|
|
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)
|
rs139600783
|
0.00323
|
|
NM_020822.3(KCNT1):c.99A>G (p.Gln33=)
|
rs146152956
|
0.00323
|
|
NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=)
|
rs151111203
|
0.00322
|
|
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met)
|
rs114842875
|
0.00322
|
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
|
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)
|
rs193257576
|
0.00321
|
|
NM_001082971.2(DDC):c.96C>T (p.Asp32=)
|
rs11575290
|
0.00319
|
|
NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly)
|
rs201652303
|
0.00319
|
|
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)
|
rs141624266
|
0.00318
|
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
|
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)
|
rs55762754
|
0.00317
|
|
NM_004281.4(BAG3):c.181-9T>A
|
rs139232658
|
0.00317
|
|
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly)
|
rs61749614
|
0.00315
|
|
NM_000051.4(ATM):c.5918+72A>G
|
rs3218694
|
0.00314
|
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
|
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)
|
rs41511151
|
0.00313
|
|
NM_001267550.2(TTN):c.31847-17A>G
|
rs72650025
|
0.00313
|
|
NM_001267550.2(TTN):c.10114+5G>A
|
rs115985443
|
0.00312
|
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
|
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser)
|
rs145727304
|
0.00312
|
|
NM_007078.3(LDB3):c.147G>A (p.Val49=)
|
rs45591834
|
0.00312
|
|
NM_024675.4(PALB2):c.1572A>G (p.Ser524=)
|
rs45472400
|
0.00312
|
|
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)
|
rs142476821
|
0.00312
|
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
|
NM_006121.4(KRT1):c.592-8G>A
|
rs147622831
|
0.00311
|
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
|
NM_000038.6(APC):c.3471G>A (p.Glu1157=)
|
rs143927847
|
0.00308
|
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
|
NM_005120.3(MED12):c.1248+15T>C
|
rs187377817
|
0.00307
|
|
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)
|
rs139913632
|
0.00307
|
|
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala)
|
rs145006535
|
0.00306
|
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
|
NM_001111.5(ADAR):c.2553C>T (p.Cys851=)
|
rs138927668
|
0.00304
|
|
NM_004656.4(BAP1):c.1026C>T (p.Ser342=)
|
rs71651686
|
0.00304
|
|
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His)
|
rs146449593
|
0.00303
|
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00302
|
|
NM_139058.3(ARX):c.1074-3T>C
|
rs200700643
|
0.00302
|
|
NM_144573.4(NEXN):c.1408G>C (p.Glu470Gln)
|
rs35366555
|
0.00302
|
|
NM_000718.4(CACNA1B):c.4848C>T (p.Ile1616=)
|
rs77664166
|
0.00301
|
|
NM_001264.5(CDSN):c.1302C>A (p.Ser434Arg)
|
rs150846158
|
0.00301
|
|
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)
|
rs141973925
|
0.00301
|
|
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr)
|
rs148076109
|
0.00301
|
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
|
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln)
|
rs148346044
|
0.00301
|
|
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys)
|
rs2857824
|
0.00301
|
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00299
|
|
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=)
|
rs141014640
|
0.00299
|
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
|
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly)
|
rs181639116
|
0.00298
|
|
NC_000005.10:g.177409584C>G
|
rs41309132
|
0.00297
|
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00297
|
|
NM_000548.5(TSC2):c.228C>T (p.His76=)
|
rs45517097
|
0.00297
|
|
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser)
|
rs62620041
|
0.00297
|
|
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)
|
rs34102501
|
0.00297
|
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00297
|
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00296
|
|
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln)
|
rs188054898
|
0.00296
|
|
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp)
|
rs41303495
|
0.00296
|
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
|
NM_020831.6(MRTFA):c.1332G>A (p.Pro444=)
|
rs148478967
|
0.00295
|
|
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=)
|
rs73038337
|
0.00293
|
|
NM_013266.4(CTNNA3):c.1587T>A (p.Asp529Glu)
|
rs74141466
|
0.00293
|
|
NM_080473.5(GATA5):c.56C>G (p.Ser19Trp)
|
rs200383755
|
0.00291
|
|
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)
|
rs201763096
|
0.00291
|
|
NM_001267550.2(TTN):c.69716-5C>G
|
rs72646886
|
0.00290
|
|
NM_002691.4(POLD1):c.1977C>T (p.Ile659=)
|
rs45605236
|
0.00290
|
|
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser)
|
rs143519723
|
0.00290
|
|
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=)
|
rs115902470
|
0.00289
|
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
|
NM_007078.3(LDB3):c.2016C>T (p.Cys672=)
|
rs45578640
|
0.00288
|
|
NM_015215.4(CAMTA1):c.2090C>T (p.Ala697Val)
|
rs111266786
|
0.00288
|
|
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)
|
rs72677233
|
0.00287
|
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00287
|
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00286
|
|
NM_001386795.1(DTNA):c.243A>G (p.Leu81=)
|
rs146923532
|
0.00285
|
|
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
|
NM_001035.3(RYR2):c.1218G>A (p.Ser406=)
|
rs147389346
|
0.00283
|
|
NM_001385012.1(NBEA):c.8413G>T (p.Val2805Phe)
|
rs41292207
|
0.00283
|
|
NM_012179.4(FBXO7):c.693C>T (p.Ser231=)
|
rs61752254
|
0.00283
|
|
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)
|
rs61751546
|
0.00283
|
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
|
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)
|
rs142549310
|
0.00281
|
|
NM_000038.6(APC):c.3165A>T (p.Ile1055=)
|
rs61734287
|
0.00280
|
|
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)
|
rs34203644
|
0.00280
|
|
NM_004525.3(LRP2):c.92C>T (p.Ala31Val)
|
rs144829356
|
0.00280
|
|
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)
|
rs147551003
|
0.00280
|
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00279
|
|
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)
|
rs28932472
|
0.00279
|
|
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=)
|
rs146858930
|
0.00277
|
|
NM_000335.5(SCN5A):c.2436+12G>A
|
rs41312419
|
0.00277
|
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00277
|
|
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=)
|
rs77113494
|
0.00277
|
|
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=)
|
rs61737803
|
0.00275
|
|
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser)
|
rs34255532
|
0.00275
|
|
NM_000257.4(MYH7):c.4353+10G>A
|
rs202205780
|
0.00274
|
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
|
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)
|
rs72646840
|
0.00274
|
|
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)
|
rs34004222
|
0.00274
|
|
NM_003227.4(TFR2):c.1473G>A (p.Glu491=)
|
rs139178017
|
0.00274
|
|
NM_016373.4(WWOX):c.1134C>T (p.Asn378=)
|
rs201088847
|
0.00274
|
|
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp)
|
rs76191655
|
0.00274
|
|
NM_020822.3(KCNT1):c.333G>A (p.Ser111=)
|
rs56008253
|
0.00274
|
|
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)
|
rs201733037
|
0.00274
|
|
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=)
|
rs17850194
|
0.00273
|
|
NM_004364.5(CEBPA):c.402G>A (p.Ala134=)
|
rs752254340
|
0.00273
|
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00272
|
|
NM_001943.5(DSG2):c.2211C>T (p.Gly737=)
|
rs74578148
|
0.00272
|
|
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met)
|
rs79229040
|
0.00271
|
|
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
|
rs45550635
|
0.00271
|
|
NM_001286577.2(C2CD3):c.5653T>C (p.Ser1885Pro)
|
rs142277857
|
0.00270
|
|
NM_001626.6(AKT2):c.93C>T (p.Ser31=)
|
rs35588791
|
0.00270
|
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00270
|
|
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser)
|
rs149081471
|
0.00270
|
|
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met)
|
rs35960726
|
0.00270
|
|
NM_001308093.3(GATA4):c.825C>T (p.Cys275=)
|
rs55980825
|
0.00269
|
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
|
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)
|
rs145988618
|
0.00268
|
|
NM_001003841.3(SLC6A19):c.984C>T (p.Arg328=)
|
rs140296083
|
0.00267
|
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
0.00267
|
|
NM_014000.3(VCL):c.3258+10A>T
|
rs71579379
|
0.00267
|
|
NM_133379.5(TTN):c.14754T>G (p.Pro4918=)
|
rs72648908
|
0.00267
|
|
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=)
|
rs61735288
|
0.00266
|
|
NM_001358530.2(MOCS1):c.124-69G>A
|
rs45487695
|
0.00266
|
|
NM_003047.5(SLC9A1):c.1356C>T (p.Ile452=)
|
rs35607809
|
0.00265
|
|
NM_033026.6(PCLO):c.14871C>T (p.Ser4957=)
|
rs117776963
|
0.00265
|
|
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr)
|
rs143679494
|
0.00265
|
|
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)
|
rs77144743
|
0.00264
|
|
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)
|
rs138073811
|
0.00264
|
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00264
|
|
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=)
|
rs202102758
|
0.00263
|
|
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
|
rs72648949
|
0.00262
|
|
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)
|
rs77968867
|
0.00262
|
|
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)
|
rs104895500
|
0.00262
|
|
NM_000257.4(MYH7):c.2162+4G>A
|
rs145738465
|
0.00261
|
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
|
NM_001122681.2(SH3BP2):c.1429C>T (p.Arg477Trp)
|
rs148761331
|
0.00261
|
|
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)
|
rs35741240
|
0.00261
|
|
NM_020297.4(ABCC9):c.2093-7T>C
|
rs185235724
|
0.00261
|
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00261
|
|
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp)
|
rs111673705
|
0.00260
|
|
NM_002230.4(JUP):c.2025T>C (p.His675=)
|
rs140670556
|
0.00259
|
|
NM_002693.3(POLG):c.948G>A (p.Lys316=)
|
rs61756401
|
0.00259
|
|
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=)
|
rs144426409
|
0.00259
|
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00259
|
|
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser)
|
rs143577015
|
0.00258
|
|
NM_001429.4(EP300):c.865A>G (p.Met289Val)
|
rs2230111
|
0.00258
|
|
NM_002230.4(JUP):c.1159-13C>A
|
rs201627219
|
0.00258
|
|
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
|
rs62641689
|
0.00258
|
|
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr)
|
rs72648913
|
0.00258
|
|
NM_000271.5(NPC1):c.463+19A>G
|
rs117512587
|
0.00257
|
|
NM_005157.6(ABL1):c.740A>G (p.Lys247Arg)
|
rs34549764
|
0.00257
|
|
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser)
|
rs138332224
|
0.00257
|
|
NM_001141919.2(XG):c.455-3C>T
|
rs202025841
|
0.00256
|
|
NM_014000.3(VCL):c.2025G>A (p.Val675=)
|
rs140766884
|
0.00256
|
|
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg)
|
rs73023451
|
0.00256
|
|
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln)
|
rs187270666
|
0.00255
|
|
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr)
|
rs35903812
|
0.00255
|
|
NM_020297.4(ABCC9):c.407-14C>A
|
rs201279882
|
0.00255
|
|
NM_198253.3(TERT):c.1812A>G (p.Ala604=)
|
rs33959226
|
0.00255
|
|
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=)
|
rs138498780
|
0.00254
|
|
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=)
|
rs72646890
|
0.00253
|
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
|
NM_006502.3(POLH):c.626G>T (p.Gly209Val)
|
rs2307456
|
0.00253
|
|
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser)
|
rs143877693
|
0.00253
|
|
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)
|
rs61752327
|
0.00253
|
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00253
|
|
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=)
|
rs116774472
|
0.00252
|
|
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)
|
rs187194973
|
0.00252
|
|
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg)
|
rs41278047
|
0.00251
|
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
|
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)
|
rs1801696
|
0.00249
|
|
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=)
|
rs147755372
|
0.00249
|
|
NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu)
|
rs146478431
|
0.00249
|
|
NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser)
|
rs146741810
|
0.00249
|
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00247
|
|
NM_000718.4(CACNA1B):c.4473+17G>A
|
rs80100052
|
0.00247
|
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00247
|
|
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp)
|
rs79327775
|
0.00247
|
|
NM_032119.4(ADGRV1):c.17856+11G>A
|
rs187039736
|
0.00247
|
|
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser)
|
rs77758574
|
0.00246
|
|
NM_007315.4(STAT1):c.796G>A (p.Val266Ile)
|
rs41473544
|
0.00246
|
|
NM_000389.5(CDKN1A):c.251G>A (p.Arg84Gln)
|
rs34916193
|
0.00245
|
|
NM_001005242.3(PKP2):c.1171-11T>C
|
rs183414126
|
0.00245
|
|
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=)
|
rs57499497
|
0.00245
|
|
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)
|
rs151287975
|
0.00245
|
|
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)
|
rs72650077
|
0.00244
|
|
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=)
|
rs139223781
|
0.00244
|
|
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)
|
rs35550482
|
0.00244
|
|
NM_138711.6(PPARG):c.1362C>T (p.Ile454=)
|
rs149367249
|
0.00244
|
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00243
|
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00243
|
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
|
NM_006432.5(NPC2):c.*9T>C
|
rs80216539
|
0.00243
|
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00242
|
|
NM_004415.4(DSP):c.7995G>A (p.Thr2665=)
|
rs35379048
|
0.00241
|
|
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)
|
rs142812510
|
0.00240
|
|
NM_005138.3(SCO2):c.201C>T (p.Phe67=)
|
rs61748568
|
0.00240
|
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
|
NM_013266.4(CTNNA3):c.1133G>A (p.Arg378His)
|
rs143682596
|
0.00240
|
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
|
NM_000257.4(MYH7):c.3853+7C>T
|
rs45467397
|
0.00239
|
|
NM_001035.3(RYR2):c.6441-19C>T
|
rs140440259
|
0.00239
|
|
NM_015378.4(VPS13D):c.7294C>T (p.Arg2432Cys)
|
rs150598243
|
0.00239
|
|
NM_170606.3(KMT2C):c.5587C>G (p.Pro1863Ala)
|
rs142070663
|
0.00239
|
|
NM_000335.5(SCN5A):c.1890+14G>A
|
rs145427253
|
0.00238
|
|
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)
|
rs72629785
|
0.00238
|
|
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=)
|
rs202085637
|
0.00238
|
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00237
|
|
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)
|
rs148331180
|
0.00237
|
|
NM_001605.3(AARS1):c.1672-4T>A
|
rs187509039
|
0.00236
|
|
NM_001903.5(CTNNA1):c.1748-16G>C
|
rs187293176
|
0.00236
|
|
NM_021783.5(EDA2R):c.334C>T (p.Pro112Ser)
|
rs12837393
|
0.00236
|
|
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr)
|
rs183021839
|
0.00235
|
|
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)
|
rs116604145
|
0.00235
|
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00235
|
|
NM_003073.5(SMARCB1):c.628+13C>T
|
rs184021903
|
0.00235
|
|
NM_004168.4(SDHA):c.313-19G>T
|
rs185555941
|
0.00235
|
|
NM_144573.4(NEXN):c.1659+18C>G
|
rs147422621
|
0.00235
|
|
NM_001267550.2(TTN):c.96108G>A (p.Val32036=)
|
rs372773283
|
0.00234
|
|
NM_001385012.1(NBEA):c.282G>A (p.Thr94=)
|
rs201561325
|
0.00234
|
|
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)
|
rs72648953
|
0.00233
|
|
NM_002972.4(SBF1):c.3904+5C>G
|
rs115032856
|
0.00233
|
|
NM_015107.3(PHF8):c.2720G>A (p.Arg907His)
|
rs142630105
|
0.00233
|
|
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)
|
rs150563155
|
0.00233
|
|
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val)
|
rs56180593
|
0.00232
|
|
NM_002471.4(MYH6):c.1275C>T (p.Ile425=)
|
rs61742470
|
0.00232
|
|
NM_001080467.3(MYO5B):c.1057-4A>G
|
rs138582195
|
0.00231
|
|
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
|
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_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
|
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=)
|
rs147021687
|
0.00229
|
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00228
|
|
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr)
|
rs144482486
|
0.00228
|
|
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)
|
rs193148631
|
0.00228
|
|
NM_014000.3(VCL):c.1671C>T (p.Asp557=)
|
rs137877092
|
0.00228
|
|
NM_001903.5(CTNNA1):c.2013G>A (p.Ala671=)
|
rs28363488
|
0.00226
|
|
NM_014391.3(ANKRD1):c.208-16C>T
|
rs79793575
|
0.00226
|
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00225
|
|
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)
|
rs149748934
|
0.00224
|
|
NM_001035.3(RYR2):c.2204-16G>T
|
rs368648602
|
0.00223
|
|
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)
|
rs537723089
|
0.00223
|
|
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=)
|
rs55696153
|
0.00223
|
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
|
NM_006005.3(WFS1):c.2124C>T (p.Arg708=)
|
rs61735401
|
0.00223
|
|
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr)
|
rs146685901
|
0.00223
|
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
|
NM_001003841.3(SLC6A19):c.775-5C>T
|
rs149379208
|
0.00222
|
|
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)
|
rs55847238
|
0.00222
|
|
NM_000527.5(LDLR):c.2390-16G>A
|
rs183496025
|
0.00221
|
|
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val)
|
rs199547661
|
0.00220
|
|
NM_174936.4(PCSK9):c.753C>T (p.Arg251=)
|
rs28385710
|
0.00219
|
|
NM_000214.3(JAG1):c.886+19A>T
|
rs200311847
|
0.00218
|
|
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr)
|
rs139515054
|
0.00218
|
|
NM_000428.3(LTBP2):c.2668G>A (p.Glu890Lys)
|
rs141783623
|
0.00218
|
|
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)
|
rs181347577
|
0.00218
|
|
NM_004281.4(BAG3):c.-17G>A
|
rs200388926
|
0.00218
|
|
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)
|
rs74360232
|
0.00218
|
|
NM_020433.5(JPH2):c.380-6C>T
|
rs201197277
|
0.00218
|
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
|
NM_000718.4(CACNA1B):c.4959G>A (p.Thr1653=)
|
rs150165282
|
0.00217
|
|
NM_001267550.2(TTN):c.1398+18A>G
|
rs72647849
|
0.00217
|
|
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val)
|
rs200840285
|
0.00217
|
|
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln)
|
rs34935550
|
0.00217
|
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
|
NM_000925.4(PDHB):c.132T>C (p.Asp44=)
|
rs11542399
|
0.00216
|
|
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=)
|
rs146810749
|
0.00215
|
|
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys)
|
rs145976111
|
0.00214
|
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
|
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=)
|
rs368168812
|
0.00214
|
|
NM_001303.4(COX10):c.929-7C>T
|
rs62052075
|
0.00214
|
|
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)
|
rs35502109
|
0.00214
|
|
NM_000038.6(APC):c.705A>G (p.Leu235=)
|
rs147036141
|
0.00213
|
|
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)
|
rs45554236
|
0.00213
|
|
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)
|
rs41289967
|
0.00213
|
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
|
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
|
rs144787939
|
0.00212
|
|
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)
|
rs41275239
|
0.00212
|
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00212
|
|
NM_001035.3(RYR2):c.6555+8C>T
|
rs1759122
|
0.00211
|
|
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)
|
rs144520412
|
0.00211
|
|
NM_015967.8(PTPN22):c.1108C>A (p.His370Asn)
|
rs72650671
|
0.00211
|
|
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr)
|
rs72647897
|
0.00211
|
|
NM_152266.5(FAAP24):c.635C>T (p.Thr212Met)
|
rs148106526
|
0.00211
|
|
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)
|
rs80356813
|
0.00210
|
|
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=)
|
rs150303433
|
0.00209
|
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
|
NM_001005242.3(PKP2):c.972G>A (p.Ala324=)
|
rs142636176
|
0.00208
|
|
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=)
|
rs146631734
|
0.00207
|
|
NM_000335.5(SCN5A):c.354C>T (p.His118=)
|
rs45533640
|
0.00207
|
|
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg)
|
rs79149293
|
0.00207
|
|
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)
|
rs72650019
|
0.00206
|
|
NM_001267550.2(TTN):c.87707-4G>T
|
rs201770959
|
0.00206
|
|
NM_000538.4(RFXAP):c.24G>A (p.Glu8=)
|
rs540467033
|
0.00205
|
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
|
NM_001105206.3(LAMA4):c.924T>C (p.His308=)
|
rs143580603
|
0.00205
|
|
NM_001267550.2(TTN):c.1938+10G>C
|
rs190935632
|
0.00205
|
|
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)
|
rs200513156
|
0.00204
|
|
NM_001267550.2(TTN):c.426C>T (p.Ala142=)
|
rs56137037
|
0.00204
|
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
|
NM_001267550.2(TTN):c.1398+16C>T
|
rs144043280
|
0.00203
|
|
NM_001202.6(BMP4):c.76T>C (p.Leu26=)
|
rs74486266
|
0.00202
|
|
NM_016360.4(TACO1):c.498T>C (p.His166=)
|
rs17549732
|
0.00202
|
|
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp)
|
rs146547678
|
0.00201
|
|
NM_001903.5(CTNNA1):c.589-5T>C
|
rs186236339
|
0.00200
|
|
NM_138927.4(SON):c.3326C>T (p.Ala1109Val)
|
rs144188863
|
0.00200
|
|
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)
|
rs11570052
|
0.00199
|
|
NM_001943.5(DSG2):c.2484T>C (p.Asp828=)
|
rs201051252
|
0.00199
|
|
NM_013266.4(CTNNA3):c.33C>T (p.Ile11=)
|
rs61735044
|
0.00199
|
|
NM_133379.5(TTN):c.10917C>T (p.Gly3639=)
|
rs140804168
|
0.00199
|
|
NM_000258.3(MYL3):c.130-14G>T
|
rs192329378
|
0.00198
|
|
NM_004168.4(SDHA):c.1551+16C>T
|
rs184954254
|
0.00198
|
|
NM_032578.4(MYPN):c.1893G>A (p.Arg631=)
|
rs145440469
|
0.00198
|
|
NM_004415.4(DSP):c.4383G>A (p.Glu1461=)
|
rs140029036
|
0.00197
|
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00197
|
|
NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr)
|
rs117063344
|
0.00197
|
|
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His)
|
rs142934522
|
0.00196
|
|
NM_015488.5(PNKD):c.236+1180G>A
|
rs148049021
|
0.00196
|
|
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=)
|
rs140236960
|
0.00196
|
|
NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys)
|
rs199809018
|
0.00195
|
|
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=)
|
rs45522138
|
0.00194
|
|
NM_001110792.2(MECP2):c.618C>T (p.Ser206=)
|
rs61749711
|
0.00194
|
|
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)
|
rs139134727
|
0.00194
|
|
NM_024422.6(DSC2):c.2616C>T (p.Cys872=)
|
rs61731920
|
0.00194
|
|
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr)
|
rs150916370
|
0.00194
|
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
|
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)
|
rs7437875
|
0.00193
|
|
NM_000320.3(QDPR):c.630-17T>C
|
rs201581320
|
0.00193
|
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
|
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=)
|
rs76458291
|
0.00193
|
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
|
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile)
|
rs199895011
|
0.00192
|
|
NM_080425.4(GNAS):c.484A>G (p.Met162Val)
|
rs138731520
|
0.00192
|
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
|
NM_001193375.3(NDUFA11):c.460G>T (p.Glu154Ter)
|
rs73920081
|
0.00191
|
|
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=)
|
rs113380721
|
0.00191
|
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00190
|
|
NM_001943.5(DSG2):c.6G>A (p.Ala2=)
|
rs368809971
|
0.00190
|
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
0.00189
|
|
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=)
|
rs149668487
|
0.00189
|
|
NM_024426.6(WT1):c.123G>C (p.Pro41=)
|
rs555140661
|
0.00189
|
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
|
NM_000718.4(CACNA1B):c.4308+10C>T
|
rs144980930
|
0.00188
|
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00188
|
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00188
|
|
NM_001005242.3(PKP2):c.951G>A (p.Ala317=)
|
rs61729382
|
0.00187
|
|
NM_000096.4(CP):c.2793A>G (p.Leu931=)
|
rs34987997
|
0.00186
|
|
NM_015352.2(POFUT1):c.937G>A (p.Glu313Lys)
|
rs35968884
|
0.00185
|
|
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp)
|
rs55857742
|
0.00184
|
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00184
|
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
|
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)
|
rs142891278
|
0.00183
|
|
NM_004415.4(DSP):c.1488G>A (p.Thr496=)
|
rs35820473
|
0.00183
|
|
NM_000535.7(PMS2):c.23+10G>C
|
rs192027828
|
0.00182
|
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00182
|
|
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)
|
rs145289229
|
0.00182
|
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00182
|
|
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val)
|
rs143704418
|
0.00182
|
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00181
|
|
NM_000146.4(FTL):c.522C>T (p.His174=)
|
rs73046709
|
0.00180
|
|
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)
|
rs138731505
|
0.00180
|
|
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys)
|
rs75762896
|
0.00180
|
|
NM_000384.3(APOB):c.3426G>A (p.Ser1142=)
|
rs142448733
|
0.00180
|
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00180
|
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00180
|
|
NM_004168.4(SDHA):c.1911C>T (p.Val637=)
|
rs11557098
|
0.00180
|
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
|
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu)
|
rs140402087
|
0.00179
|
|
NM_033118.4(MYLK2):c.1295+4C>A
|
rs113936360
|
0.00179
|
|
NM_000170.3(GLDC):c.1927-9A>G
|
rs41281773
|
0.00178
|
|
NM_000257.4(MYH7):c.480C>T (p.Asn160=)
|
rs45500700
|
0.00178
|
|
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)
|
rs56324602
|
0.00178
|
|
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)
|
rs56293906
|
0.00178
|
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
|
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)
|
rs141235720
|
0.00178
|
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00178
|
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
|
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)
|
rs149146258
|
0.00178
|
|
NM_001927.4(DES):c.324G>A (p.Glu108=)
|
rs138677215
|
0.00177
|
|
NM_000222.3(KIT):c.2805T>A (p.Ile935=)
|
rs72549296
|
0.00176
|
|
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)
|
rs200224422
|
0.00176
|
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00176
|
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00175
|
|
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)
|
rs199714102
|
0.00175
|
|
NM_004357.5(CD151):c.84+13C>T
|
rs201750899
|
0.00175
|
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
|
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=)
|
rs45562437
|
0.00174
|
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00174
|
|
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)
|
rs119468010
|
0.00173
|
|
NM_001267550.2(TTN):c.29963-13A>G
|
rs72650008
|
0.00173
|
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00172
|
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00172
|
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00172
|
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
|
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=)
|
rs115003742
|
0.00171
|
|
NM_001267550.2(TTN):c.8902+14T>A
|
rs13388274
|
0.00170
|
|
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=)
|
rs142496099
|
0.00170
|
|
NM_015087.5(SPART):c.361G>T (p.Asp121Tyr)
|
rs146398746
|
0.00170
|
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
|
NM_016327.3(UPB1):c.917-1G>A
|
rs143493067
|
0.00169
|
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
|
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter)
|
rs71352737
|
0.00168
|
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00167
|
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00166
|
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00166
|
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00166
|
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00166
|
|
NM_001110792.2(MECP2):c.933C>T (p.Thr311=)
|
rs61748423
|
0.00166
|
|
NM_004304.5(ALK):c.3594C>T (p.Leu1198=)
|
rs56071005
|
0.00166
|
|
NM_015268.4(DNAJC13):c.5684C>T (p.Thr1895Met)
|
rs145242123
|
0.00166
|
|
NM_000256.3(MYBPC3):c.2905+35A>G
|
rs11570107
|
0.00164
|
|
NM_000384.3(APOB):c.3279C>G (p.Thr1093=)
|
rs72653075
|
0.00163
|
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00163
|
|
NM_002471.4(MYH6):c.2928+5G>A
|
rs28730772
|
0.00163
|
|
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)
|
rs35641267
|
0.00163
|
|
NM_198253.3(TERT):c.1574-16G>C
|
rs79698601
|
0.00163
|
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
|
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)
|
rs41285286
|
0.00162
|
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
|
NM_001159699.2(FHL1):c.489C>T (p.Asp163=)
|
rs149670651
|
0.00162
|
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
|
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala)
|
rs202093758
|
0.00161
|
|
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr)
|
rs144668626
|
0.00161
|
|
NM_004006.3(DMD):c.1483-7C>G
|
rs112463388
|
0.00161
|
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00161
|
|
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=)
|
rs184389316
|
0.00160
|
|
NM_001931.5(DLAT):c.570A>G (p.Gln190=)
|
rs143107853
|
0.00160
|
|
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_015909.4(NBAS):c.3928A>G (p.Thr1310Ala)
|
rs35489395
|
0.00160
|
|
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser)
|
rs201904226
|
0.00160
|
|
NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln)
|
rs140460765
|
0.00160
|
|
NM_152424.4(AMER1):c.2651C>T (p.Pro884Leu)
|
rs201092215
|
0.00160
|
|
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)
|
rs145988230
|
0.00159
|
|
NM_001943.5(DSG2):c.1652-12C>T
|
rs140850369
|
0.00159
|
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
|
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)
|
rs200055351
|
0.00159
|
|
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=)
|
rs61736590
|
0.00159
|
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
|
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=)
|
rs201916326
|
0.00158
|
|
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)
|
rs193922639
|
0.00158
|
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
|
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=)
|
rs139590882
|
0.00157
|
|
NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln)
|
rs145070485
|
0.00157
|
|
NM_022114.4(PRDM16):c.2506G>A (p.Gly836Ser)
|
rs114204766
|
0.00157
|
|
NM_033337.3(CAV3):c.336C>T (p.Ile112=)
|
rs139985460
|
0.00157
|
|
NM_001126128.2(PROK2):c.84C>G (p.Ala28=)
|
rs372623686
|
0.00156
|
|
NM_004415.4(DSP):c.1920C>T (p.Ile640=)
|
rs74806300
|
0.00156
|
|
NM_001845.6(COL4A1):c.1000-5T>G
|
rs75711155
|
0.00155
|
|
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=)
|
rs193102273
|
0.00155
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
rs17248882
|
0.00154
|
|
NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu)
|
rs200815663
|
0.00154
|
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
|
NM_032578.4(MYPN):c.1104C>T (p.Gly368=)
|
rs144764983
|
0.00154
|
|
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly)
|
rs146044282
|
0.00153
|
|
NM_004006.3(DMD):c.8571T>C (p.Thr2857=)
|
rs72466570
|
0.00153
|
|
NM_022114.4(PRDM16):c.201G>A (p.Pro67=)
|
rs199614349
|
0.00153
|
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00152
|
|
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)
|
rs145709687
|
0.00152
|
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00151
|
|
NM_021167.5(GATAD1):c.762G>A (p.Gly254=)
|
rs139637606
|
0.00151
|
|
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=)
|
rs199853370
|
0.00151
|
|
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=)
|
rs139590550
|
0.00151
|
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
|
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln)
|
rs72468667
|
0.00150
|
|
NM_032578.4(MYPN):c.1246-19G>A
|
rs75739924
|
0.00150
|
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00149
|
|
NM_000553.6(WRN):c.355+4G>C
|
rs145764920
|
0.00149
|
|
NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met)
|
rs147233112
|
0.00148
|
|
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_000363.5(TNNI3):c.109-17C>A
|
rs139150276
|
0.00147
|
|
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val)
|
rs117440569
|
0.00147
|
|
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)
|
rs189438534
|
0.00147
|
|
NM_001940.4(ATN1):c.2785G>A (p.Ala929Thr)
|
rs143844103
|
0.00147
|
|
NM_006214.4(PHYH):c.356C>T (p.Thr119Met)
|
rs34571629
|
0.00147
|
|
NM_023083.4(CAPN10):c.959C>T (p.Pro320Leu)
|
rs140681762
|
0.00147
|
|
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)
|
rs146366996
|
0.00147
|
|
NM_001035.3(RYR2):c.14809-20C>T
|
rs141119268
|
0.00146
|
|
NM_001035.3(RYR2):c.4596+12G>A
|
rs148557427
|
0.00146
|
|
NM_001303052.2(MYT1L):c.2532G>A (p.Leu844=)
|
rs191820268
|
0.00146
|
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00146
|
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
|
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=)
|
rs370597107
|
0.00145
|
|
NM_014000.3(VCL):c.1907A>G (p.His636Arg)
|
rs71579374
|
0.00145
|
|
NM_004281.4(BAG3):c.1587C>T (p.Ala529=)
|
rs149358702
|
0.00144
|
|
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)
|
rs560874115
|
0.00144
|
|
NM_000038.6(APC):c.6921G>A (p.Ser2307=)
|
rs2229993
|
0.00143
|
|
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln)
|
rs121912280
|
0.00143
|
|
NM_001035.3(RYR2):c.9067+12C>T
|
rs112365440
|
0.00143
|
|
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=)
|
rs186541002
|
0.00143
|
|
NM_004360.5(CDH1):c.1272C>T (p.Val424=)
|
rs61756284
|
0.00143
|
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00143
|
|
NM_033305.3(VPS13A):c.2170+13T>C
|
rs183087425
|
0.00143
|
|
NM_004281.4(BAG3):c.549C>G (p.Ser183=)
|
rs112929734
|
0.00141
|
|
NM_015967.8(PTPN22):c.197-4A>G
|
rs72650669
|
0.00141
|
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
|
NM_138927.4(SON):c.1664C>T (p.Thr555Met)
|
rs13049658
|
0.00141
|
|
NM_014727.3(KMT2B):c.2268_2279dup (p.Gln759_Pro762dup)
|
rs564202766
|
0.00140
|
|
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly)
|
rs149961458
|
0.00140
|
|
NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=)
|
rs77912754
|
0.00140
|
|
NM_144573.4(NEXN):c.864+12T>A
|
rs188416492
|
0.00140
|
|
NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=)
|
rs146382764
|
0.00139
|
|
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)
|
rs147259983
|
0.00139
|
|
NM_000159.4(GCDH):c.1011A>G (p.Ala337=)
|
rs2229460
|
0.00138
|
|
NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val)
|
rs139397227
|
0.00138
|
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00138
|
|
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=)
|
rs202185465
|
0.00138
|
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
|
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)
|
rs150248985
|
0.00138
|
|
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)
|
rs145720191
|
0.00137
|
|
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)
|
rs61758732
|
0.00137
|
|
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)
|
rs142874389
|
0.00137
|
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00137
|
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00136
|
|
NM_004100.5(EYA4):c.783G>A (p.Thr261=)
|
rs17854076
|
0.00136
|
|
NM_007078.3(LDB3):c.1422G>A (p.Ser474=)
|
rs142625982
|
0.00136
|
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
|
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile)
|
rs121918426
|
0.00135
|
|
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser)
|
rs201168500
|
0.00135
|
|
NM_007315.4(STAT1):c.1222-5T>C
|
rs191364028
|
0.00135
|
|
NM_032193.4(RNASEH2C):c.-10A>G
|
rs77371161
|
0.00135
|
|
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)
|
rs201158906
|
0.00134
|
|
NM_006514.4(SCN10A):c.4568G>A (p.Cys1523Tyr)
|
rs142217269
|
0.00134
|
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00133
|
|
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=)
|
rs149318543
|
0.00133
|
|
NM_001267550.2(TTN):c.16621+7A>T
|
rs10200398
|
0.00133
|
|
NM_001267550.2(TTN):c.17183-9T>C
|
rs141687561
|
0.00133
|
|
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)
|
rs72650030
|
0.00133
|
|
NM_001625.4(AK2):c.49C>G (p.Arg17Gly)
|
rs138577419
|
0.00133
|
|
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn)
|
rs148797987
|
0.00133
|
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00133
|
|
NM_006267.5(RANBP2):c.4498G>C (p.Ala1500Pro)
|
rs145284139
|
0.00133
|
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00133
|
|
NM_020822.3(KCNT1):c.435-17G>A
|
rs140115987
|
0.00133
|
|
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)
|
rs188739870
|
0.00133
|
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
|
NM_001111.5(ADAR):c.1926T>C (p.His642=)
|
rs150171059
|
0.00132
|
|
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly)
|
rs183950862
|
0.00132
|
|
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val)
|
rs146767076
|
0.00132
|
|
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463
|
0.00132
|
|
NM_001447.3(FAT2):c.3399C>A (p.Asn1133Lys)
|
rs138913417
|
0.00132
|
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00132
|
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
|
NM_001846.4(COL4A2):c.4578G>A (p.Ala1526=)
|
rs186888528
|
0.00131
|
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
|
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn)
|
rs143236410
|
0.00131
|
|
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)
|
rs143547136
|
0.00131
|
|
NM_000925.4(PDHB):c.198A>G (p.Ala66=)
|
rs138621975
|
0.00130
|
|
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=)
|
rs56812642
|
0.00130
|
|
NM_002471.4(MYH6):c.3979-8C>G
|
rs555976716
|
0.00130
|
|
NM_013266.4(CTNNA3):c.1453A>T (p.Thr485Ser)
|
rs140913916
|
0.00130
|
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
|
NM_005186.4(CAPN1):c.1474G>A (p.Gly492Arg)
|
rs17883283
|
0.00129
|
|
NM_006306.4(SMC1A):c.1545+4A>C
|
rs377270943
|
0.00129
|
|
NM_000371.4(TTR):c.360C>T (p.Ser120=)
|
rs150127220
|
0.00128
|
|
NM_001267550.2(TTN):c.36285C>T (p.His12095=)
|
rs201184203
|
0.00128
|
|
NM_001943.5(DSG2):c.1875G>C (p.Leu625=)
|
rs35743180
|
0.00128
|
|
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala)
|
rs145551486
|
0.00128
|
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
|
NM_001388419.1(KALRN):c.5182+21760C>T
|
rs56407180
|
0.00127
|
|
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala)
|
rs151043891
|
0.00127
|
|
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val)
|
rs41562713
|
0.00126
|
|
NM_001199107.2(TBC1D24):c.-7C>T
|
rs199852092
|
0.00126
|
|
NM_001386795.1(DTNA):c.604-14G>T
|
rs397517447
|
0.00126
|
|
NM_002693.3(POLG):c.1585+11T>C
|
rs201566815
|
0.00126
|
|
NM_004415.4(DSP):c.2346C>T (p.Asp782=)
|
rs139071827
|
0.00126
|
|
NM_005249.5(FOXG1):c.447C>T (p.Ala149=)
|
rs112803404
|
0.00126
|
|
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys)
|
rs201797790
|
0.00125
|
|
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=)
|
rs17541165
|
0.00125
|
|
NM_007078.3(LDB3):c.689+10G>A
|
rs45563234
|
0.00125
|
|
NM_133379.5(TTN):c.14214C>T (p.Thr4738=)
|
rs147513899
|
0.00125
|
|
NM_004415.4(DSP):c.522T>C (p.Cys174=)
|
rs144781697
|
0.00124
|
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00123
|
|
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu)
|
rs148724199
|
0.00123
|
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
|
NM_000271.5(NPC1):c.612C>T (p.Thr204=)
|
rs151084683
|
0.00122
|
|
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)
|
rs371075036
|
0.00122
|
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
|
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=)
|
rs139521707
|
0.00121
|
|
NM_004517.4(ILK):c.631C>T (p.Arg211Cys)
|
rs140322345
|
0.00121
|
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
|
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=)
|
rs139500905
|
0.00121
|
|
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)
|
rs148123045
|
0.00120
|
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00120
|
|
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=)
|
rs55807353
|
0.00120
|
|
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His)
|
rs3752579
|
0.00119
|
|
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)
|
rs138770431
|
0.00119
|
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00119
|
|
NM_018105.3(THAP1):c.71+9C>A
|
rs200209986
|
0.00119
|
|
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)
|
rs2230210
|
0.00118
|
|
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)
|
rs141493373
|
0.00118
|
|
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)
|
rs187925021
|
0.00118
|
|
NM_004415.4(DSP):c.939+17C>T
|
rs140481492
|
0.00118
|
|
NM_178452.6(DNAAF1):c.1031-5A>T
|
rs79772571
|
0.00118
|
|
NM_000265.7(NCF1):c.292T>G (p.Cys98Gly)
|
rs144018361
|
0.00117
|
|
NM_000335.5(SCN5A):c.4297-14T>C
|
rs56104887
|
0.00117
|
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00117
|
|
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)
|
rs72648939
|
0.00117
|
|
NM_001267550.2(TTN):c.44529C>T (p.His14843=)
|
rs55973744
|
0.00117
|
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
|
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)
|
rs72648255
|
0.00117
|
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00117
|
|
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)
|
rs149875171
|
0.00117
|
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00117
|
|
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met)
|
rs149333409
|
0.00117
|
|
NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp)
|
rs199972068
|
0.00117
|
|
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val)
|
rs2227871
|
0.00116
|
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
|
NM_001199138.2(NLRC4):c.2614+12A>T
|
rs187140134
|
0.00116
|
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
|
NM_001845.6(COL4A1):c.904-9C>T
|
rs201481886
|
0.00116
|
|
NM_002471.4(MYH6):c.1122G>A (p.Ala374=)
|
rs148091079
|
0.00116
|
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00116
|
|
NM_005477.3(HCN4):c.1356C>T (p.Ser452=)
|
rs148453034
|
0.00116
|
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
|
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=)
|
rs150363140
|
0.00116
|
|
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)
|
rs140769712
|
0.00115
|
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
|
NM_000505.4(F12):c.1027G>C (p.Ala343Pro)
|
rs183643295
|
0.00115
|
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
|
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=)
|
rs146020786
|
0.00115
|
|
NM_000038.6(APC):c.423-17T>A
|
rs534684461
|
0.00114
|
|
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)
|
rs138968178
|
0.00114
|
|
NM_145046.5(CALR3):c.398-6T>C
|
rs376479901
|
0.00114
|
|
NM_173560.4(RFX6):c.223G>C (p.Glu75Gln)
|
rs201996097
|
0.00114
|
|
NM_000143.4(FH):c.-11C>T
|
rs200942733
|
0.00113
|
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00113
|
|
NM_001267550.2(TTN):c.33581-18T>C
|
rs148392677
|
0.00113
|
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
|
NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu)
|
rs149434153
|
0.00113
|
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
|
NM_020297.4(ABCC9):c.798T>C (p.Asp266=)
|
rs138356189
|
0.00113
|
|
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)
|
rs116998555
|
0.00113
|
|
NM_174936.4(PCSK9):c.525C>T (p.Asp175=)
|
rs148612296
|
0.00113
|
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00112
|
|
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)
|
rs41292592
|
0.00112
|
|
NM_002087.4(GRN):c.970G>A (p.Ala324Thr)
|
rs63750541
|
0.00112
|
|
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr)
|
rs150615457
|
0.00112
|
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00111
|
|
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=)
|
rs146163169
|
0.00110
|
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
|
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)
|
rs140383655
|
0.00110
|
|
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)
|
rs55832587
|
0.00109
|
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
|
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)
|
rs200088963
|
0.00109
|
|
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=)
|
rs55956577
|
0.00109
|
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00109
|
|
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)
|
rs151244052
|
0.00109
|
|
NM_015559.3(SETBP1):c.3299A>G (p.His1100Arg)
|
rs149162154
|
0.00109
|
|
NM_000384.3(APOB):c.2068-4T>A
|
rs41291161
|
0.00108
|
|
NM_001267550.2(TTN):c.91565-13C>T
|
rs200847757
|
0.00108
|
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
|
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=)
|
rs140663434
|
0.00108
|
|
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu)
|
rs146422412
|
0.00108
|
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
|
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)
|
rs141828689
|
0.00107
|
|
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)
|
rs141671123
|
0.00107
|
|
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)
|
rs187705120
|
0.00106
|
|
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)
|
rs41306784
|
0.00106
|
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00106
|
|
NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile)
|
rs137974312
|
0.00106
|
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
|
NM_001035.3(RYR2):c.1143C>T (p.Ser381=)
|
rs368844286
|
0.00105
|
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
|
NM_201384.3(PLEC):c.2844C>T (p.Pro948=)
|
rs200482255
|
0.00105
|
|
NM_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
|
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=)
|
rs185062935
|
0.00104
|
|
NM_001267550.2(TTN):c.29605-12T>C
|
rs143352892
|
0.00104
|
|
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)
|
rs188584219
|
0.00104
|
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
|
NM_004304.5(ALK):c.4785C>T (p.Ala1595=)
|
rs76150405
|
0.00104
|
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00104
|
|
NM_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00103
|
|
NM_001267550.2(TTN):c.101406C>G (p.Val33802=)
|
rs55802460
|
0.00103
|
|
NM_024306.5(FA2H):c.537G>A (p.Leu179=)
|
rs75711361
|
0.00103
|
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
|
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)
|
rs878852992
|
0.00102
|
|
NM_000527.5(LDLR):c.694+25C>T
|
rs199540175
|
0.00102
|
|
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met)
|
rs201777030
|
0.00102
|
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00102
|
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
|
NM_001029896.2(WDR45):c.351C>T (p.Ile117=)
|
rs140596058
|
0.00101
|
|
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly)
|
rs61743881
|
0.00101
|
|
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=)
|
rs72646852
|
0.00101
|
|
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=)
|
rs199629314
|
0.00101
|
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
|
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)
|
rs148700620
|
0.00099
|
|
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)
|
rs56026369
|
0.00099
|
|
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)
|
rs72649002
|
0.00099
|
|
NM_001267550.2(TTN):c.39296-13C>T
|
rs372380420
|
0.00099
|
|
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)
|
rs143030960
|
0.00099
|
|
NM_020433.5(JPH2):c.1971G>A (p.Glu657=)
|
rs142333841
|
0.00099
|
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
|
NM_002691.4(POLD1):c.1620C>T (p.Gly540=)
|
rs140216790
|
0.00098
|
|
NM_013266.4(CTNNA3):c.844-15G>A
|
rs201089736
|
0.00098
|
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
|
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=)
|
rs144122893
|
0.00097
|
|
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)
|
rs371480338
|
0.00097
|
|
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)
|
rs150544093
|
0.00097
|
|
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)
|
rs72646867
|
0.00097
|
|
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr)
|
rs111387770
|
0.00097
|
|
NM_030665.4(RAI1):c.840_843del (p.Gln280fs)
|
rs775735568
|
0.00097
|
|
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp)
|
rs193922382
|
0.00096
|
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00096
|
|
NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln)
|
rs121917702
|
0.00096
|
|
NM_001170535.3(ATAD3A):c.604G>A (p.Glu202Lys)
|
rs148455993
|
0.00096
|
|
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)
|
rs146402942
|
0.00096
|
|
NM_001267550.2(TTN):c.107961T>C (p.His35987=)
|
rs377439315
|
0.00096
|
|
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala)
|
rs143724414
|
0.00096
|
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00096
|
|
NM_032578.4(MYPN):c.1460-14T>A
|
rs201156035
|
0.00096
|
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
|
NM_001318510.2(ACSL4):c.806+3A>G
|
rs183171123
|
0.00095
|
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
|
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)
|
rs199628430
|
0.00095
|
|
NM_001482.3(GATM):c.69+13C>T
|
rs573273215
|
0.00095
|
|
NM_007078.3(LDB3):c.993G>A (p.Ala331=)
|
rs140347820
|
0.00095
|
|
NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala)
|
rs114719990
|
0.00095
|
|
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=)
|
rs142126065
|
0.00095
|
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00094
|
|
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=)
|
rs372997298
|
0.00094
|
|
NM_001735.3(C5):c.3029C>T (p.Ala1010Val)
|
rs34362143
|
0.00094
|
|
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)
|
rs199511876
|
0.00094
|
|
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)
|
rs146170087
|
0.00094
|
|
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp)
|
rs145227848
|
0.00094
|
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
|
NM_001267550.2(TTN):c.1246-16G>A
|
rs72647847
|
0.00093
|
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00092
|
|
NM_000447.3(PSEN2):c.366G>A (p.Thr122=)
|
rs148996705
|
0.00092
|
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
|
NM_000169.3(GLA):c.978G>A (p.Lys326=)
|
rs151195362
|
0.00091
|
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
|
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)
|
rs147293964
|
0.00091
|
|
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)
|
rs72646842
|
0.00091
|
|
NM_002025.4(AFF2):c.496C>T (p.Pro166Ser)
|
rs150996735
|
0.00091
|
|
NM_003476.5(CSRP3):c.299G>A (p.Arg100His)
|
rs138218523
|
0.00091
|
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00090
|
|
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)
|
rs138842207
|
0.00090
|
|
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)
|
rs55938627
|
0.00090
|
|
NM_001267550.2(TTN):c.25351+13C>G
|
rs138362885
|
0.00090
|
|
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)
|
rs72646899
|
0.00090
|
|
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser)
|
rs137852684
|
0.00090
|
|
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn)
|
rs139339184
|
0.00090
|
|
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=)
|
rs148848282
|
0.00090
|
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
|
NM_021167.5(GATAD1):c.558G>A (p.Thr186=)
|
rs141932124
|
0.00089
|
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
|
NM_002227.4(JAK1):c.1951G>A (p.Val651Met)
|
rs149968614
|
0.00088
|
|
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys)
|
rs77281462
|
0.00088
|
|
NM_006432.5(NPC2):c.363+7G>A
|
rs200463204
|
0.00088
|
|
NM_006929.5(SKIC2):c.3470C>T (p.Thr1157Met)
|
rs201764098
|
0.00088
|
|
NM_032578.4(MYPN):c.2880T>G (p.Ser960=)
|
rs146028308
|
0.00088
|
|
NM_001017995.3(SH3PXD2B):c.814G>A (p.Ala272Thr)
|
rs201224113
|
0.00087
|
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
|
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)
|
rs140417636
|
0.00086
|
|
NM_000523.4(HOXD13):c.617A>G (p.Tyr206Cys)
|
rs147720746
|
0.00086
|
|
NM_000535.7(PMS2):c.251-20T>G
|
rs149343081
|
0.00086
|
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
|
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=)
|
rs368243641
|
0.00086
|
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00086
|
|
NM_001737.5(C9):c.974C>T (p.Ala325Val)
|
rs147068084
|
0.00086
|
|
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser)
|
rs35288908
|
0.00086
|
|
NM_006267.5(RANBP2):c.8599+16G>A
|
rs145152325
|
0.00086
|
|
NM_014000.3(VCL):c.1572C>T (p.Ala524=)
|
rs138566234
|
0.00086
|
|
NM_016203.4(PRKAG2):c.1584+7C>T
|
rs111627309
|
0.00086
|
|
NM_000548.5(TSC2):c.2838-4A>G
|
rs45517272
|
0.00085
|
|
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)
|
rs148391179
|
0.00085
|
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00084
|
|
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr)
|
rs61742247
|
0.00083
|
|
NM_000548.5(TSC2):c.2979G>A (p.Thr993=)
|
rs45517277
|
0.00083
|
|
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)
|
rs147955381
|
0.00083
|
|
NM_004415.4(DSP):c.741G>A (p.Ala247=)
|
rs2806234
|
0.00083
|
|
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg)
|
rs142951029
|
0.00083
|
|
NM_000276.4(OCRL):c.40-5C>T
|
rs201211377
|
0.00082
|
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00082
|
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
|
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met)
|
rs111402193
|
0.00082
|
|
NM_004517.4(ILK):c.65A>G (p.Asn22Ser)
|
rs114115159
|
0.00082
|
|
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)
|
rs200596619
|
0.00082
|
|
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=)
|
rs61753012
|
0.00081
|
|
NM_001267550.2(TTN):c.36701-16A>G
|
rs577899845
|
0.00081
|
|
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)
|
rs193022702
|
0.00081
|
|
NM_005502.4(ABCA1):c.720+6T>C
|
rs188308962
|
0.00081
|
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
|
NM_007214.5(SEC63):c.340-7T>C
|
rs1569557
|
0.00081
|
|
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)
|
rs371831553
|
0.00080
|
|
NM_152617.4(RNF168):c.529G>A (p.Glu177Lys)
|
rs112513009
|
0.00080
|
|
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)
|
rs144018942
|
0.00080
|
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00079
|
|
NM_001032221.6(STXBP1):c.1702+10C>T
|
rs147607230
|
0.00079
|
|
NM_001267550.2(TTN):c.1537-4G>A
|
rs56006378
|
0.00079
|
|
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=)
|
rs77416370
|
0.00079
|
|
NM_030787.4(CFHR5):c.1561T>A (p.Leu521Ile)
|
rs35957013
|
0.00079
|
|
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=)
|
rs142559688
|
0.00078
|
|
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys)
|
rs34706803
|
0.00078
|
|
NM_001267550.2(TTN):c.54812-5A>G
|
rs375343798
|
0.00078
|
|
NM_001267550.2(TTN):c.98683+7G>C
|
rs141150066
|
0.00078
|
|
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met)
|
rs141353229
|
0.00078
|
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
|
NM_024334.3(TMEM43):c.163-6T>A
|
rs372434224
|
0.00078
|
|
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys)
|
rs147869493
|
0.00078
|
|
NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu)
|
rs145922241
|
0.00077
|
|
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)
|
rs202017608
|
0.00077
|
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
|
NM_006892.4(DNMT3B):c.73G>A (p.Gly25Arg)
|
rs151128145
|
0.00077
|
|
NM_170707.4(LMNA):c.1489-16C>G
|
rs201379016
|
0.00077
|
|
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln)
|
rs201417343
|
0.00077
|
|
NM_000335.5(SCN5A):c.2437-13C>T
|
rs45455099
|
0.00076
|
|
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=)
|
rs140495148
|
0.00076
|
|
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr)
|
rs63750043
|
0.00076
|
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00076
|
|
NM_004655.4(AXIN2):c.270C>T (p.Asp90=)
|
rs141655687
|
0.00076
|
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
|
NM_000483.5(APOC2):c.85G>A (p.Asp29Asn)
|
rs147242592
|
0.00075
|
|
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)
|
rs201155967
|
0.00075
|
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00075
|
|
NM_004409.5(DMPK):c.1477C>T (p.Arg493Cys)
|
rs78771765
|
0.00075
|
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00075
|
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
|
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)
|
rs45510294
|
0.00074
|
|
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=)
|
rs143368674
|
0.00074
|
|
NM_001267550.2(TTN):c.44014+19G>C
|
rs139264089
|
0.00074
|
|
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=)
|
rs2303834
|
0.00074
|
|
NM_020774.4(MIB1):c.-17C>T
|
rs561980800
|
0.00074
|
|
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp)
|
rs200964353
|
0.00074
|
|
NM_000285.4(PEPD):c.34G>A (p.Gly12Arg)
|
rs201992066
|
0.00073
|
|
NM_001035.3(RYR2):c.1134C>T (p.Asp378=)
|
rs193922621
|
0.00073
|
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
|
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)
|
rs190023981
|
0.00073
|
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00073
|
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00072
|
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00072
|
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00072
|
|
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804
|
0.00072
|
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
|
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)
|
rs370890951
|
0.00071
|
|
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)
|
rs120074114
|
0.00071
|
|
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)
|
rs370996795
|
0.00071
|
|
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)
|
rs138064129
|
0.00071
|
|
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=)
|
rs148535912
|
0.00071
|
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00070
|
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
|
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys)
|
rs55790011
|
0.00070
|
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00070
|
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
|
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp)
|
rs138130914
|
0.00070
|
|
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln)
|
rs147809756
|
0.00069
|
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
|
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)
|
rs200173934
|
0.00069
|
|
NM_001330078.2(NRXN1):c.1158+26A>T
|
rs201802152
|
0.00069
|
|
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala)
|
rs115507225
|
0.00069
|
|
NM_000047.3(ARSL):c.23+5G>C
|
rs200062390
|
0.00068
|
|
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00068
|
|
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu)
|
rs143749154
|
0.00068
|
|
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288
|
0.00068
|
|
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)
|
rs201285872
|
0.00068
|
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00068
|
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00068
|
|
NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln)
|
rs200507617
|
0.00068
|
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
|
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu)
|
rs34521483
|
0.00068
|
|
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)
|
rs144321760
|
0.00067
|
|
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn)
|
rs141274774
|
0.00067
|
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
|
NM_002294.3(LAMP2):c.339C>T (p.Ser113=)
|
rs147369153
|
0.00067
|
|
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)
|
rs148478829
|
0.00067
|
|
NM_014425.5(INVS):c.367C>T (p.Arg123Trp)
|
rs149315279
|
0.00067
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
rs137853963
|
0.00066
|
|
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)
|
rs200750234
|
0.00066
|
|
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)
|
rs202238753
|
0.00066
|
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
|
NM_006610.4(MASP2):c.352C>T (p.Arg118Cys)
|
rs147270785
|
0.00066
|
|
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val)
|
rs142981643
|
0.00066
|
|
NM_198076.6(COX20):c.157+3G>C
|
rs367956888
|
0.00066
|
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
|
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)
|
rs41308303
|
0.00065
|
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00065
|
|
NM_001267550.2(TTN):c.40927+16C>T
|
rs369965589
|
0.00065
|
|
NM_003280.3(TNNC1):c.201C>T (p.Asp67=)
|
rs150881554
|
0.00065
|
|
NM_006031.6(PCNT):c.623G>A (p.Arg208His)
|
rs142318247
|
0.00065
|
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
|
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=)
|
rs201338158
|
0.00065
|
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
|
NM_000335.5(SCN5A):c.630G>A (p.Val210=)
|
rs193922727
|
0.00064
|
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00064
|
|
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)
|
rs1805031
|
0.00064
|
|
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile)
|
rs70940811
|
0.00064
|
|
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)
|
rs377180286
|
0.00064
|
|
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=)
|
rs72648266
|
0.00064
|
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
|
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser)
|
rs201503021
|
0.00064
|
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
|
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)
|
rs370569372
|
0.00064
|
|
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=)
|
rs56080682
|
0.00063
|
|
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)
|
rs150151955
|
0.00063
|
|
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)
|
rs148046938
|
0.00063
|
|
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=)
|
rs151241634
|
0.00063
|
|
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)
|
rs72646848
|
0.00063
|
|
NM_002471.4(MYH6):c.2807C>T (p.Ala936Val)
|
rs199838024
|
0.00063
|
|
NM_003849.4(SUCLG1):c.202-4T>C
|
rs141973418
|
0.00063
|
|
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu)
|
rs137870876
|
0.00063
|
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
|
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)
|
rs138911275
|
0.00062
|
|
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=)
|
rs190830121
|
0.00062
|
|
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)
|
rs199784139
|
0.00062
|
|
NM_006610.4(MASP2):c.1142C>T (p.Thr381Ile)
|
rs143981111
|
0.00062
|
|
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)
|
rs116606479
|
0.00062
|
|
NM_000257.4(MYH7):c.1230C>T (p.Tyr410=)
|
rs150885220
|
0.00061
|
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
|
NM_001267550.2(TTN):c.39211+6C>T
|
rs187365142
|
0.00061
|
|
NM_001267550.2(TTN):c.9703+17T>A
|
rs377693857
|
0.00061
|
|
NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu)
|
rs143831841
|
0.00061
|
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
|
NM_002661.5(PLCG2):c.2393A>G (p.Asn798Ser)
|
rs117077093
|
0.00061
|
|
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00061
|
|
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr)
|
rs149300669
|
0.00061
|
|
NM_000054.7(AVPR2):c.1055G>A (p.Gly352Asp)
|
rs146350208
|
0.00060
|
|
NM_000543.5(SMPD1):c.8G>A (p.Arg3His)
|
rs199836262
|
0.00060
|
|
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=)
|
rs147069572
|
0.00060
|
|
NM_001267550.2(TTN):c.29042-2A>C
|
rs6716782
|
0.00060
|
|
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)
|
rs188063446
|
0.00060
|
|
NM_004606.5(TAF1):c.2688G>A (p.Glu896=)
|
rs148921433
|
0.00060
|
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
|
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn)
|
rs191798831
|
0.00060
|
|
NM_024675.4(PALB2):c.2996+17T>C
|
rs180177128
|
0.00060
|
|
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=)
|
rs77705198
|
0.00059
|
|
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met)
|
rs199752762
|
0.00059
|
|
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)
|
rs200662317
|
0.00059
|
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00059
|
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
|
NM_133379.5(TTN):c.10920T>C (p.Ser3640=)
|
rs142585268
|
0.00059
|
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00058
|
|
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val)
|
rs199948752
|
0.00058
|
|
NM_032578.4(MYPN):c.1236C>A (p.Thr412=)
|
rs151220474
|
0.00058
|
|
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu)
|
rs144826521
|
0.00058
|
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00058
|
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00057
|
|
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)
|
rs45482691
|
0.00057
|
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00057
|
|
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln)
|
rs2480373
|
0.00057
|
|
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)
|
rs35698242
|
0.00057
|
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
|
NM_002016.2(FLG):c.8166G>A (p.Glu2722=)
|
rs368624506
|
0.00057
|
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
|
NC_000002.12:g.178618858T>C
|
rs182706301
|
0.00056
|
|
NM_001267550.2(TTN):c.296-14T>C
|
rs199951296
|
0.00056
|
|
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)
|
rs55857909
|
0.00056
|
|
NM_002691.4(POLD1):c.1138-8A>G
|
rs41544624
|
0.00056
|
|
NM_005477.3(HCN4):c.2739G>A (p.Ala913=)
|
rs373411041
|
0.00056
|
|
NM_020297.4(ABCC9):c.2238-1G>A
|
rs141281214
|
0.00056
|
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00056
|
|
NM_032531.4(KIRREL3):c.908T>C (p.Val303Ala)
|
rs201725914
|
0.00056
|
|
NM_032578.4(MYPN):c.1935C>T (p.Pro645=)
|
rs71535754
|
0.00056
|
|
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
|
rs144722432
|
0.00055
|
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
|
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln)
|
rs141634296
|
0.00055
|
|
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg)
|
rs201964644
|
0.00055
|
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
|
NM_013266.4(CTNNA3):c.1929C>T (p.His643=)
|
rs147760277
|
0.00055
|
|
NM_016203.4(PRKAG2):c.1106+9G>C
|
rs200429988
|
0.00055
|
|
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)
|
rs143389605
|
0.00055
|
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
|
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=)
|
rs45529536
|
0.00054
|
|
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=)
|
rs200529923
|
0.00054
|
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
|
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=)
|
rs199598302
|
0.00054
|
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
|
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)
|
rs139486133
|
0.00054
|
|
NM_201384.3(PLEC):c.6426C>T (p.Ala2142=)
|
rs200062782
|
0.00054
|
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
|
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)
|
rs189127014
|
0.00053
|
|
NM_001374353.1(GLI2):c.148+5T>C
|
rs201273354
|
0.00053
|
|
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His)
|
rs149091975
|
0.00053
|
|
NM_000875.5(IGF1R):c.3187-5C>T
|
rs45495500
|
0.00052
|
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00052
|
|
NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His)
|
rs201971987
|
0.00052
|
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
|
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=)
|
rs142148876
|
0.00051
|
|
NM_000548.5(TSC2):c.975+13C>T
|
rs200564575
|
0.00051
|
|
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys)
|
rs202184174
|
0.00051
|
|
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=)
|
rs35772073
|
0.00051
|
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
|
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)
|
rs200585528
|
0.00051
|
|
NM_002667.5(PLN):c.27C>T (p.Arg9=)
|
rs145623013
|
0.00051
|
|
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
|
rs116888866
|
0.00051
|
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
|
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser)
|
rs149108037
|
0.00051
|
|
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)
|
rs61746358
|
0.00051
|
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
|
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=)
|
rs200610057
|
0.00050
|
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00050
|
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00050
|
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00050
|
|
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)
|
rs370080995
|
0.00050
|
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00050
|
|
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)
|
rs200825430
|
0.00050
|
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00050
|
|
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys)
|
rs147633212
|
0.00049
|
|
NM_002029.4(FPR1):c.368G>A (p.Arg123His)
|
rs149931707
|
0.00049
|
|
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg)
|
rs142348767
|
0.00049
|
|
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)
|
rs140575619
|
0.00049
|
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00048
|
|
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)
|
rs28897744
|
0.00048
|
|
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr)
|
rs201753022
|
0.00048
|
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00048
|
|
NM_001035.3(RYR2):c.10231-4T>C
|
rs117180147
|
0.00048
|
|
NM_001103.4(ACTN2):c.927C>T (p.Pro309=)
|
rs145411160
|
0.00048
|
|
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)
|
rs72646876
|
0.00048
|
|
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)
|
rs104895452
|
0.00048
|
|
NM_001448.3(GPC4):c.772C>T (p.Arg258Trp)
|
rs199910189
|
0.00048
|
|
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=)
|
rs201804323
|
0.00048
|
|
NM_004281.4(BAG3):c.855G>A (p.Thr285=)
|
rs147259596
|
0.00048
|
|
NM_004415.4(DSP):c.1574+14G>T
|
rs200443042
|
0.00048
|
|
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys)
|
rs751423106
|
0.00048
|
|
NM_024334.3(TMEM43):c.705+7G>A
|
rs201916031
|
0.00048
|
|
NM_024662.3(NAT10):c.1349C>T (p.Thr450Met)
|
rs148211973
|
0.00048
|
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
|
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00047
|
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00047
|
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00047
|
|
NM_003737.4(DCHS1):c.5972G>A (p.Arg1991His)
|
rs145725245
|
0.00047
|
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
|
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)
|
rs147192139
|
0.00047
|
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00047
|
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00047
|
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00046
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
0.00046
|
|
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=)
|
rs146979083
|
0.00046
|
|
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=)
|
rs375626512
|
0.00046
|
|
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu)
|
rs398124448
|
0.00046
|
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00046
|
|
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)
|
rs139789997
|
0.00046
|
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00046
|
|
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=)
|
rs200573256
|
0.00046
|
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00046
|
|
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)
|
rs200996053
|
0.00045
|
|
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)
|
rs139435774
|
0.00045
|
|
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00045
|
|
NM_001105206.3(LAMA4):c.921T>G (p.Ala307=)
|
rs186498011
|
0.00045
|
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
|
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu)
|
rs139504522
|
0.00045
|
|
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=)
|
rs72648918
|
0.00045
|
|
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=)
|
rs374094732
|
0.00045
|
|
NM_002471.4(MYH6):c.531-19T>A
|
rs374174532
|
0.00045
|
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00045
|
|
NM_004360.5(CDH1):c.1744C>T (p.Leu582=)
|
rs1801025
|
0.00045
|
|
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val)
|
rs144226338
|
0.00045
|
|
NM_144573.4(NEXN):c.732C>A (p.Pro244=)
|
rs201171783
|
0.00045
|
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
|
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys)
|
rs199643269
|
0.00044
|
|
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=)
|
rs56398525
|
0.00044
|
|
NM_004667.6(HERC2):c.4651A>C (p.Ile1551Leu)
|
rs200864382
|
0.00044
|
|
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys)
|
rs199638465
|
0.00044
|
|
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile)
|
rs200776757
|
0.00044
|
|
NM_033305.3(VPS13A):c.2667+11C>T
|
rs375898960
|
0.00044
|
|
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=)
|
rs140674819
|
0.00044
|
|
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met)
|
rs200434678
|
0.00044
|
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00043
|
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00043
|
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00043
|
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
|
NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys)
|
rs144896730
|
0.00043
|
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00042
|
|
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=)
|
rs200285003
|
0.00042
|
|
NM_000384.3(APOB):c.7152T>C (p.Val2384=)
|
rs72653090
|
0.00042
|
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00042
|
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00042
|
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
|
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg)
|
rs143635917
|
0.00042
|
|
NM_133379.5(TTN):c.14616C>T (p.Ser4872=)
|
rs148105798
|
0.00042
|
|
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser)
|
rs72648909
|
0.00042
|
|
NM_000038.6(APC):c.2322C>T (p.Asp774=)
|
rs145792879
|
0.00041
|
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00041
|
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00041
|
|
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)
|
rs200144345
|
0.00041
|
|
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=)
|
rs186402008
|
0.00041
|
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
|
NM_002471.4(MYH6):c.643-5C>T
|
rs199859986
|
0.00041
|
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
|
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)
|
rs121918363
|
0.00041
|
|
NM_022369.4(STRA6):c.902C>T (p.Thr301Ile)
|
rs139450204
|
0.00041
|
|
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)
|
rs147903234
|
0.00041
|
|
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)
|
rs41291047
|
0.00041
|
|
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)
|
rs55886062
|
0.00040
|
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00040
|
|
NM_000548.5(TSC2):c.138+20C>G
|
rs45517092
|
0.00040
|
|
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)
|
rs201080904
|
0.00040
|
|
NM_001368067.1(LDB3):c.771G>A (p.Thr257=)
|
rs144445130
|
0.00040
|
|
NM_004006.3(DMD):c.2490C>T (p.Asn830=)
|
rs72468679
|
0.00040
|
|
NM_031418.4(ANO3):c.1915C>T (p.Leu639=)
|
rs149866447
|
0.00040
|
|
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)
|
rs201922441
|
0.00040
|
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
|
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=)
|
rs199525540
|
0.00039
|
|
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
|
NM_002471.4(MYH6):c.4359+5A>G
|
rs193283041
|
0.00039
|
|
NM_002471.4(MYH6):c.4359+8A>C
|
rs188675676
|
0.00039
|
|
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)
|
rs146720775
|
0.00039
|
|
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)
|
rs72466595
|
0.00039
|
|
NM_020717.5(SHROOM4):c.1675G>A (p.Glu559Lys)
|
rs151329289
|
0.00039
|
|
NM_020778.5(ALPK3):c.2223C>T (p.Leu741=)
|
rs138935453
|
0.00039
|
|
NM_024408.4(NOTCH2):c.3479A>G (p.His1160Arg)
|
rs142876168
|
0.00039
|
|
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys)
|
rs149243712
|
0.00039
|
|
NM_152869.4(RGN):c.453C>G (p.Asp151Glu)
|
rs138747840
|
0.00039
|
|
NM_000116.5(TAFAZZIN):c.542-20C>T
|
rs373841640
|
0.00038
|
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00038
|
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
|
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=)
|
rs201374999
|
0.00038
|
|
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)
|
rs202089818
|
0.00038
|
|
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)
|
rs150983093
|
0.00038
|
|
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu)
|
rs200716582
|
0.00038
|
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00038
|
|
NM_020778.5(ALPK3):c.2262A>G (p.Glu754=)
|
rs143456491
|
0.00038
|
|
NM_030665.4(RAI1):c.1941C>T (p.Ser647=)
|
rs140198185
|
0.00038
|
|
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)
|
rs151282801
|
0.00038
|
|
NM_002458.3(MUC5B):c.10853G>A (p.Arg3618His)
|
rs201155330
|
0.00037
|
|
NM_003737.4(DCHS1):c.6133C>T (p.Arg2045Cys)
|
rs147594191
|
0.00037
|
|
NM_004281.4(BAG3):c.888C>T (p.His296=)
|
rs139399890
|
0.00037
|
|
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)
|
rs184154918
|
0.00037
|
|
NM_000258.3(MYL3):c.307+15C>T
|
rs184025552
|
0.00036
|
|
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
|
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=)
|
rs371931287
|
0.00036
|
|
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro)
|
rs146202702
|
0.00036
|
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
|
NM_002016.2(FLG):c.3321del (p.Gly1109fs)
|
rs200519781
|
0.00036
|
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
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_004006.3(DMD):c.3163-18T>C
|
rs72468662
|
0.00036
|
|
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)
|
rs142304137
|
0.00036
|
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00035
|
|
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
|
rs2069544
|
0.00035
|
|
NM_000381.4(MID1):c.1561C>T (p.Arg521Cys)
|
rs149482288
|
0.00035
|
|
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)
|
rs74772771
|
0.00035
|
|
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=)
|
rs375408527
|
0.00035
|
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
|
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=)
|
rs146782397
|
0.00035
|
|
NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=)
|
rs137899908
|
0.00035
|
|
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)
|
rs147822019
|
0.00035
|
|
NM_015836.4(WARS2):c.938A>T (p.Lys313Met)
|
rs145867327
|
0.00035
|
|
NM_020778.5(ALPK3):c.4056C>T (p.His1352=)
|
rs144613098
|
0.00035
|
|
NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser)
|
rs200562747
|
0.00035
|
|
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)
|
rs150890296
|
0.00035
|
|
NM_173495.3(PTCHD1):c.1012+5T>C
|
rs201933353
|
0.00035
|
|
NM_198253.3(TERT):c.2775C>T (p.His925=)
|
rs34528119
|
0.00035
|
|
NM_000048.4(ASL):c.532G>A (p.Val178Met)
|
rs28941473
|
0.00034
|
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
|
NM_000257.4(MYH7):c.3690C>T (p.Asp1230=)
|
rs370750044
|
0.00034
|
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
|
NM_000384.3(APOB):c.2853G>A (p.Glu951=)
|
rs151193347
|
0.00034
|
|
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)
|
rs1800091
|
0.00034
|
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00034
|
|
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln)
|
rs138143719
|
0.00034
|
|
NM_002578.5(PAK3):c.1518G>A (p.Arg506=)
|
rs377693111
|
0.00034
|
|
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)
|
rs28935498
|
0.00034
|
|
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile)
|
rs140932636
|
0.00034
|
|
NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg)
|
rs141758463
|
0.00034
|
|
NM_007194.4(CHEK2):c.*18C>T
|
rs17884403
|
0.00034
|
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
|
NM_014000.3(VCL):c.492T>G (p.Leu164=)
|
rs143702799
|
0.00034
|
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
|
NM_020433.5(JPH2):c.780C>T (p.Ala260=)
|
rs199840543
|
0.00034
|
|
NM_022114.4(PRDM16):c.1632C>T (p.Asp544=)
|
rs199499877
|
0.00034
|
|
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)
|
rs201391886
|
0.00034
|
|
NM_172107.4(KCNQ2):c.297-18C>T
|
rs370109710
|
0.00034
|
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00033
|
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
|
NM_000836.4(GRIN2D):c.3628C>T (p.Pro1210Ser)
|
rs773824115
|
0.00033
|
|
NM_001324144.2(ZNF41):c.88G>A (p.Glu30Lys)
|
rs200141273
|
0.00033
|
|
NM_002764.4(PRPS1):c.573G>A (p.Leu191=)
|
rs770518315
|
0.00033
|
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
|
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)
|
rs147245615
|
0.00032
|
|
NM_001134831.2(AHI1):c.1829G>A (p.Arg610Gln)
|
rs374009466
|
0.00032
|
|
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)
|
rs371580084
|
0.00032
|
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00032
|
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
|
NM_005045.4(RELN):c.877G>A (p.Asp293Asn)
|
rs200289289
|
0.00032
|
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
|
NM_025074.7(FRAS1):c.4334C>T (p.Thr1445Ile)
|
rs200123789
|
0.00032
|
|
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)
|
rs141010008
|
0.00031
|
|
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00031
|
|
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
|
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)
|
rs201358641
|
0.00031
|
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
|
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)
|
rs150450178
|
0.00031
|
|
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn)
|
rs150821246
|
0.00031
|
|
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu)
|
rs149764887
|
0.00031
|
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00031
|
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
|
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=)
|
rs144420313
|
0.00030
|
|
NM_000268.4(NF2):c.886-15C>T
|
rs200837904
|
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_001267550.2(TTN):c.24506-16T>C
|
rs200319727
|
0.00030
|
|
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=)
|
rs368781863
|
0.00030
|
|
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=)
|
rs374168580
|
0.00030
|
|
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)
|
rs372782502
|
0.00030
|
|
NM_001267550.2(TTN):c.80271C>T (p.Val26757=)
|
rs199875474
|
0.00030
|
|
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)
|
rs72648251
|
0.00030
|
|
NM_001267550.2(TTN):c.94863C>T (p.His31621=)
|
rs373871146
|
0.00030
|
|
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)
|
rs141355480
|
0.00030
|
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
|
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
|
rs143225442
|
0.00029
|
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
|
NM_001018005.2(TPM1):c.563+313A>G
|
rs144700226
|
0.00029
|
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
|
NM_002471.4(MYH6):c.4960-9G>A
|
rs557113705
|
0.00029
|
|
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)
|
rs41554817
|
0.00029
|
|
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)
|
rs146168040
|
0.00029
|
|
NM_005477.3(HCN4):c.1656C>T (p.His552=)
|
rs148142070
|
0.00029
|
|
NM_005629.4(SLC6A8):c.1767+15C>T
|
rs370331295
|
0.00029
|
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
|
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)
|
rs143346402
|
0.00029
|
|
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)
|
rs147927477
|
0.00029
|
|
NM_145046.5(CALR3):c.60C>G (p.Thr20=)
|
rs370721650
|
0.00029
|
|
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)
|
rs150387338
|
0.00029
|
|
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_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)
|
rs144963736
|
0.00028
|
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00028
|
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
|
NM_002471.4(MYH6):c.2097C>T (p.Gly699=)
|
rs149734381
|
0.00028
|
|
NM_007078.3(LDB3):c.1035C>T (p.Ile345=)
|
rs121908336
|
0.00028
|
|
NM_012282.4(KCNE5):c.55G>T (p.Glu19Ter)
|
rs374389286
|
0.00028
|
|
NM_014321.4(ORC6):c.2T>C (p.Met1Thr)
|
rs146795505
|
0.00028
|
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00027
|
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00027
|
|
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=)
|
rs147894075
|
0.00027
|
|
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)
|
rs200866883
|
0.00027
|
|
NM_001267550.2(TTN):c.30433+15A>T
|
rs371872220
|
0.00027
|
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00027
|
|
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr)
|
rs201458257
|
0.00027
|
|
NM_001386795.1(DTNA):c.1404G>A (p.Ala468=)
|
rs144776465
|
0.00027
|
|
NM_004281.4(BAG3):c.771C>T (p.Pro257=)
|
rs200212999
|
0.00027
|
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00027
|
|
NM_033118.4(MYLK2):c.972+14G>A
|
rs193922713
|
0.00027
|
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
|
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)
|
rs139434755
|
0.00026
|
|
NM_001122681.2(SH3BP2):c.1366T>C (p.Ser456Pro)
|
rs145949614
|
0.00026
|
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00026
|
|
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=)
|
rs375538420
|
0.00026
|
|
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=)
|
rs374081262
|
0.00026
|
|
NM_002230.4(JUP):c.486G>A (p.Ala162=)
|
rs113317262
|
0.00026
|
|
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu)
|
rs563981206
|
0.00026
|
|
NM_020774.4(MIB1):c.1830-18T>C
|
rs201761957
|
0.00026
|
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
|
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)
|
rs142931246
|
0.00025
|
|
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)
|
rs137853962
|
0.00025
|
|
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val)
|
rs180177501
|
0.00025
|
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00025
|
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00025
|
|
NM_001394062.1(MACF1):c.15226C>G (p.Leu5076Val)
|
rs144367111
|
0.00025
|
|
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala)
|
rs200739891
|
0.00025
|
|
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala)
|
rs146627706
|
0.00025
|
|
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro)
|
rs374659816
|
0.00025
|
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00025
|
|
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)
|
rs3092826
|
0.00024
|
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00024
|
|
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)
|
rs193922635
|
0.00024
|
|
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
|
rs575822089
|
0.00024
|
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
|
NM_001267550.2(TTN):c.35875+8T>G
|
rs192408585
|
0.00024
|
|
NM_002471.4(MYH6):c.2685+10C>T
|
rs202155137
|
0.00024
|
|
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys)
|
rs117749531
|
0.00024
|
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00024
|
|
NM_171998.4(RAB39B):c.543A>G (p.Thr181=)
|
rs369970931
|
0.00024
|
|
NM_000257.4(MYH7):c.797-17T>C
|
rs532401716
|
0.00023
|
|
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)
|
rs145741748
|
0.00023
|
|
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)
|
rs200524526
|
0.00023
|
|
NM_001267550.2(TTN):c.5697C>T (p.Ile1899=)
|
rs148434577
|
0.00023
|
|
NM_001267550.2(TTN):c.59344+3G>A
|
rs142095604
|
0.00023
|
|
NM_001378414.1(HDAC4):c.3058C>T (p.Arg1020Cys)
|
rs201219118
|
0.00023
|
|
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu)
|
rs200943714
|
0.00023
|
|
NM_002230.4(JUP):c.546G>A (p.Ser182=)
|
rs202038498
|
0.00023
|
|
NM_003611.3(OFD1):c.2260+12G>A
|
rs375507459
|
0.00023
|
|
NM_004006.3(DMD):c.2386G>A (p.Val796Ile)
|
rs139726281
|
0.00023
|
|
NM_004006.3(DMD):c.7310-7A>G
|
rs373230021
|
0.00023
|
|
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile)
|
rs201656873
|
0.00023
|
|
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)
|
rs144434028
|
0.00023
|
|
NM_016203.4(PRKAG2):c.1585-4G>A
|
rs373649956
|
0.00023
|
|
NM_017775.4(TTC19):c.313-4T>C
|
rs374666326
|
0.00023
|
|
NM_020433.5(JPH2):c.379+12T>G
|
rs763058686
|
0.00023
|
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00023
|
|
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=)
|
rs200088686
|
0.00023
|
|
NM_152296.5(ATP1A3):c.1193-4C>G
|
rs200111818
|
0.00023
|
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
|
NM_000384.3(APOB):c.7863A>C (p.Leu2621=)
|
rs138497378
|
0.00022
|
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00022
|
|
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)
|
rs183336802
|
0.00022
|
|
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=)
|
rs192857526
|
0.00022
|
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00022
|
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
|
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=)
|
rs372158844
|
0.00022
|
|
NM_005477.3(HCN4):c.1459G>A (p.Val487Met)
|
rs202037304
|
0.00022
|
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
|
NM_001035.3(RYR2):c.1005+13A>G
|
rs552027921
|
0.00021
|
|
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys)
|
rs201510986
|
0.00021
|
|
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=)
|
rs148210834
|
0.00021
|
|
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)
|
rs201837864
|
0.00021
|
|
NM_001276345.2(TNNT2):c.200-11A>G
|
rs368658464
|
0.00021
|
|
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser)
|
rs376051686
|
0.00021
|
|
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr)
|
rs762561997
|
0.00021
|
|
NM_004444.5(EPHB4):c.1067C>G (p.Thr356Ser)
|
rs192640017
|
0.00021
|
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
|
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)
|
rs80357090
|
0.00021
|
|
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter)
|
rs147948835
|
0.00021
|
|
NM_020778.5(ALPK3):c.1589G>A (p.Arg530Gln)
|
rs150733634
|
0.00021
|
|
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)
|
rs121908253
|
0.00021
|
|
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=)
|
rs143118084
|
0.00021
|
|
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)
|
rs199701877
|
0.00021
|
|
NM_000257.4(MYH7):c.5283+19C>T
|
rs45582836
|
0.00020
|
|
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val)
|
rs2227971
|
0.00020
|
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00020
|
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
|
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)
|
rs369223412
|
0.00020
|
|
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser)
|
rs147282497
|
0.00020
|
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
|
NM_133379.5(TTN):c.16020T>C (p.His5340=)
|
rs200378944
|
0.00020
|
|
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His)
|
rs574482100
|
0.00020
|
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
|
NM_000257.4(MYH7):c.5412C>G (p.Ala1804=)
|
rs147433856
|
0.00019
|
|
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)
|
rs138695961
|
0.00019
|
|
NM_000271.5(NPC1):c.3477+19T>C
|
rs375942184
|
0.00019
|
|
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr)
|
rs200261177
|
0.00019
|
|
NM_000455.5(STK11):c.1296G>A (p.Gln432=)
|
rs587781179
|
0.00019
|
|
NM_001005273.3(CHD3):c.4826G>A (p.Arg1609Gln)
|
rs759598225
|
0.00019
|
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
|
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=)
|
rs76928874
|
0.00019
|
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
|
NM_001271.4(CHD2):c.4278+5T>C
|
rs202174434
|
0.00019
|
|
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=)
|
rs200698497
|
0.00019
|
|
NM_002471.4(MYH6):c.2841C>T (p.Asp947=)
|
rs140305424
|
0.00019
|
|
NM_003673.4(TCAP):c.111-16C>G
|
rs199865814
|
0.00019
|
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
|
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
|
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)
|
rs121908603
|
0.00019
|
|
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser)
|
rs144882998
|
0.00019
|
|
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=)
|
rs397517263
|
0.00019
|
|
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met)
|
rs202096917
|
0.00019
|
|
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)
|
rs376934539
|
0.00019
|
|
NM_018713.3(SLC30A10):c.269C>T (p.Thr90Ile)
|
rs554675480
|
0.00019
|
|
NM_020812.4(DOCK6):c.5939+2T>C
|
rs201387914
|
0.00019
|
|
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys)
|
rs199881207
|
0.00019
|
|
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn)
|
rs200168437
|
0.00019
|
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
|
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln)
|
rs138926584
|
0.00018
|
|
NM_001256789.3(CACNA1F):c.761T>C (p.Ile254Thr)
|
rs202029187
|
0.00018
|
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
|
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)
|
rs377164046
|
0.00018
|
|
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)
|
rs201922910
|
0.00018
|
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00018
|
|
NM_002230.4(JUP):c.1377G>T (p.Leu459=)
|
rs147370522
|
0.00018
|
|
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)
|
rs200786705
|
0.00018
|
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00017
|
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00017
|
|
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=)
|
rs566157997
|
0.00017
|
|
NM_001110556.2(FLNA):c.2023-4C>G
|
rs368719012
|
0.00017
|
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00017
|
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00017
|
|
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)
|
rs775954427
|
0.00017
|
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
|
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn)
|
rs200697681
|
0.00017
|
|
NM_001379451.1(BCORL1):c.62G>A (p.Arg21His)
|
rs778701486
|
0.00017
|
|
NM_004281.4(BAG3):c.96G>T (p.Pro32=)
|
rs372083121
|
0.00017
|
|
NM_013266.4(CTNNA3):c.18A>T (p.Pro6=)
|
rs138580439
|
0.00017
|
|
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=)
|
rs145005748
|
0.00017
|
|
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)
|
rs141458731
|
0.00017
|
|
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
|
rs182698253
|
0.00017
|
|
NC_000011.10:g.47349939G>A
|
rs561595897
|
0.00016
|
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00016
|
|
NM_000059.4(BRCA2):c.9649-20C>T
|
rs56177715
|
0.00016
|
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
|
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)
|
rs137854617
|
0.00016
|
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
|
NM_001105206.3(LAMA4):c.1020C>T (p.Asn340=)
|
rs147822567
|
0.00016
|
|
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
|
rs200242235
|
0.00016
|
|
NM_001165963.4(SCN1A):c.1378-3T>C
|
rs150964803
|
0.00016
|
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00016
|
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
|
NM_004006.3(DMD):c.9486G>A (p.Glu3162=)
|
rs370724251
|
0.00016
|
|
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)
|
rs201744227
|
0.00016
|
|
NM_007214.5(SEC63):c.340-8T>C
|
rs1569556
|
0.00016
|
|
NM_014000.3(VCL):c.1716T>G (p.Leu572=)
|
rs189781480
|
0.00016
|
|
NM_014000.3(VCL):c.1842G>A (p.Thr614=)
|
rs144117013
|
0.00016
|
|
NM_144573.4(NEXN):c.865-17A>G
|
rs201771600
|
0.00016
|
|
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)
|
rs145119918
|
0.00016
|
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00015
|
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00015
|
|
NM_000535.7(PMS2):c.1467G>A (p.Glu489=)
|
rs542522853
|
0.00015
|
|
NM_000834.5(GRIN2B):c.2481G>A (p.Ala827=)
|
rs189384622
|
0.00015
|
|
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=)
|
rs369993514
|
0.00015
|
|
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys)
|
rs367774903
|
0.00015
|
|
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=)
|
rs190058852
|
0.00015
|
|
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=)
|
rs147331514
|
0.00015
|
|
NM_001371904.1(APOA5):c.434A>G (p.Gln145Arg)
|
rs368739905
|
0.00015
|
|
NM_001374353.1(GLI2):c.4094G>A (p.Arg1365His)
|
rs200080112
|
0.00015
|
|
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys)
|
rs186333183
|
0.00015
|
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00015
|
|
NM_022114.4(PRDM16):c.2748G>A (p.Ala916=)
|
rs370768364
|
0.00015
|
|
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)
|
rs397515869
|
0.00014
|
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00014
|
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
|
NM_001103.4(ACTN2):c.615+15C>T
|
rs369293885
|
0.00014
|
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00014
|
|
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=)
|
rs3731753
|
0.00014
|
|
NM_001267550.2(TTN):c.35313G>A (p.Pro11771=)
|
rs369739111
|
0.00014
|
|
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)
|
rs184815126
|
0.00014
|
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00014
|
|
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)
|
rs200843338
|
0.00014
|
|
NM_001368894.2(PAX6):c.807+5C>T
|
rs376564909
|
0.00014
|
|
NM_003737.4(DCHS1):c.6422G>A (p.Arg2141Gln)
|
rs141488333
|
0.00014
|
|
NM_006005.3(WFS1):c.2054G>A (p.Arg685His)
|
rs142668478
|
0.00014
|
|
NM_007078.3(LDB3):c.897-14T>C
|
rs763081924
|
0.00014
|
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
|
NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg)
|
rs775245244
|
0.00014
|
|
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)
|
rs199795381
|
0.00014
|
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00013
|
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00013
|
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00013
|
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
|
NM_001018005.2(TPM1):c.114+14C>T
|
rs576659891
|
0.00013
|
|
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)
|
rs199730192
|
0.00013
|
|
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr)
|
rs201096167
|
0.00013
|
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
|
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=)
|
rs373429851
|
0.00013
|
|
NM_001267550.2(TTN):c.71883T>C (p.Val23961=)
|
rs368692510
|
0.00013
|
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00013
|
|
NM_002471.4(MYH6):c.1252G>A (p.Val418Met)
|
rs147606900
|
0.00013
|
|
NM_004415.4(DSP):c.1575-15C>G
|
rs369184165
|
0.00013
|
|
NM_005477.3(HCN4):c.621C>G (p.Arg207=)
|
rs727503958
|
0.00013
|
|
NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys)
|
rs146648044
|
0.00013
|
|
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)
|
rs145522851
|
0.00013
|
|
NM_022114.4(PRDM16):c.1668G>A (p.Leu556=)
|
rs372910329
|
0.00013
|
|
NM_032977.4(CASP10):c.1297G>A (p.Glu433Lys)
|
rs200540853
|
0.00013
|
|
NM_133379.5(TTN):c.15768T>A (p.His5256Gln)
|
rs138826545
|
0.00013
|
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
|
NM_000237.3(LPL):c.286G>C (p.Val96Leu)
|
rs373088068
|
0.00012
|
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
|
NM_001035.3(RYR2):c.7824+20G>A
|
rs373240466
|
0.00012
|
|
NM_001128840.3(CACNA1D):c.1637A>G (p.Asn546Ser)
|
rs55797424
|
0.00012
|
|
NM_001267550.2(TTN):c.103912C>T (p.Arg34638Cys)
|
rs374444254
|
0.00012
|
|
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)
|
rs374882815
|
0.00012
|
|
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)
|
rs146219199
|
0.00012
|
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00012
|
|
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)
|
rs372543652
|
0.00012
|
|
NM_005912.2(MC4R):c.110A>T (p.Asp37Val)
|
rs13447325
|
0.00012
|
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
|
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala)
|
rs398124317
|
0.00012
|
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
0.00012
|
|
NM_145046.5(CALR3):c.403G>A (p.Asp135Asn)
|
rs143932873
|
0.00012
|
|
NM_145046.5(CALR3):c.564del (p.Gln189fs)
|
rs747656642
|
0.00012
|
|
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)
|
rs80358833
|
0.00011
|
|
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
|
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=)
|
rs35690719
|
0.00011
|
|
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu)
|
rs367729718
|
0.00011
|
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
|
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=)
|
rs368035400
|
0.00011
|
|
NM_000257.4(MYH7):c.345C>T (p.Tyr115=)
|
rs149439730
|
0.00011
|
|
NM_000302.4(PLOD1):c.303C>T (p.Ser101=)
|
rs147980436
|
0.00011
|
|
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)
|
rs372970828
|
0.00011
|
|
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=)
|
rs564847999
|
0.00011
|
|
NM_000465.4(BARD1):c.1152C>T (p.Ser384=)
|
rs368291318
|
0.00011
|
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
|
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val)
|
rs397508556
|
0.00011
|
|
NM_001018005.2(TPM1):c.726G>A (p.Ala242=)
|
rs200484871
|
0.00011
|
|
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=)
|
rs373769240
|
0.00011
|
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
|
NM_001134363.3(RBM20):c.3573+16C>T
|
rs772863559
|
0.00011
|
|
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)
|
rs148442069
|
0.00011
|
|
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp)
|
rs373914077
|
0.00011
|
|
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=)
|
rs371495674
|
0.00011
|
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
|
NM_001267550.2(TTN):c.5742G>A (p.Ala1914=)
|
rs368719553
|
0.00011
|
|
NM_001267550.2(TTN):c.66051G>A (p.Val22017=)
|
rs587780981
|
0.00011
|
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00011
|
|
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met)
|
rs376363284
|
0.00011
|
|
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys)
|
rs368439674
|
0.00011
|
|
NM_002230.4(JUP):c.1159-20G>A
|
rs782463183
|
0.00011
|
|
NM_002471.4(MYH6):c.1410C>T (p.Asp470=)
|
rs139886074
|
0.00011
|
|
NM_002471.4(MYH6):c.1599C>T (p.Ser533=)
|
rs371263768
|
0.00011
|
|
NM_002471.4(MYH6):c.3343-3C>A
|
rs565446762
|
0.00011
|
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
0.00011
|
|
NM_003200.5(TCF3):c.1549G>C (p.Glu517Gln)
|
rs368238041
|
0.00011
|
|
NM_004933.3(CDH15):c.131G>A (p.Arg44Gln)
|
rs199879102
|
0.00011
|
|
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val)
|
rs150610657
|
0.00011
|
|
NM_013266.4(CTNNA3):c.1732+8A>G
|
rs372686443
|
0.00011
|
|
NM_016529.6(ATP8A2):c.1560C>T (p.Ile520=)
|
rs558462263
|
0.00011
|
|
NM_016929.5(CLIC5):c.514C>T (p.Arg172Trp)
|
rs138254725
|
0.00011
|
|
NM_024666.5(AAGAB):c.1A>G (p.Met1Val)
|
rs539301011
|
0.00011
|
|
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=)
|
rs372350188
|
0.00011
|
|
NM_033337.3(CAV3):c.204C>A (p.Ser68=)
|
rs116840775
|
0.00011
|
|
NM_145046.5(CALR3):c.378G>A (p.Ser126=)
|
rs374869347
|
0.00011
|
|
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)
|
rs781878105
|
0.00011
|
|
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys)
|
rs147403664
|
0.00010
|
|
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser)
|
rs370354759
|
0.00010
|
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
|
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)
|
rs139489232
|
0.00010
|
|
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe)
|
rs370109572
|
0.00010
|
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
|
NM_003235.5(TG):c.7569G>A (p.Val2523=)
|
rs771682922
|
0.00010
|
|
NM_004006.3(DMD):c.3432+10A>G
|
rs746260475
|
0.00010
|
|
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)
|
rs142292491
|
0.00010
|
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
|
NM_007194.4(CHEK2):c.1095+19G>A
|
rs200020484
|
0.00010
|
|
NM_018196.4(TMLHE):c.248C>T (p.Ala83Val)
|
rs149189246
|
0.00010
|
|
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro)
|
rs139714761
|
0.00010
|
|
NM_024334.3(TMEM43):c.429G>A (p.Thr143=)
|
rs201217046
|
0.00010
|
|
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)
|
rs376945733
|
0.00010
|
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
|
NM_000236.3(LIPC):c.623G>A (p.Arg208His)
|
rs200684324
|
0.00009
|
|
NM_000337.6(SGCD):c.123C>G (p.Leu41=)
|
rs200670993
|
0.00009
|
|
NM_000455.5(STK11):c.787T>C (p.Leu263=)
|
rs372378119
|
0.00009
|
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
|
NM_001009944.3(PKD1):c.6484C>T (p.Arg2162Trp)
|
rs373256534
|
0.00009
|
|
NM_001048174.2(MUTYH):c.606+14C>G
|
rs752537118
|
0.00009
|
|
NM_001267550.2(TTN):c.103992C>G (p.Leu34664=)
|
rs375120372
|
0.00009
|
|
NM_001267550.2(TTN):c.1245+20G>T
|
rs371234481
|
0.00009
|
|
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=)
|
rs369128249
|
0.00009
|
|
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=)
|
rs573218266
|
0.00009
|
|
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=)
|
rs557628408
|
0.00009
|
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
|
NM_002230.4(JUP):c.892G>A (p.Gly298Ser)
|
rs199597864
|
0.00009
|
|
NM_002471.4(MYH6):c.4651-3C>A
|
rs572175190
|
0.00009
|
|
NM_002878.4(RAD51D):c.145-4G>A
|
rs201361465
|
0.00009
|
|
NM_004517.4(ILK):c.466G>A (p.Gly156Ser)
|
rs199790448
|
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_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
|
NM_014391.3(ANKRD1):c.750+17G>A
|
rs373898620
|
0.00009
|
|
NM_022114.4(PRDM16):c.2503G>A (p.Ala835Thr)
|
rs755872965
|
0.00009
|
|
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)
|
rs104894705
|
0.00009
|
|
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)
|
rs121908121
|
0.00009
|
|
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala)
|
rs80358899
|
0.00008
|
|
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr)
|
rs63750757
|
0.00008
|
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
|
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=)
|
rs368734580
|
0.00008
|
|
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)
|
rs375798246
|
0.00008
|
|
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=)
|
rs587780445
|
0.00008
|
|
NM_001199397.3(NEK1):c.1080+4T>C
|
rs757527637
|
0.00008
|
|
NM_001267550.2(TTN):c.33742+8C>T
|
rs375939001
|
0.00008
|
|
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln)
|
rs555499592
|
0.00008
|
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
|
NM_004614.5(TK2):c.416C>T (p.Ala139Val)
|
rs281865494
|
0.00008
|
|
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=)
|
rs149432225
|
0.00008
|
|
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser)
|
rs59183158
|
0.00008
|
|
NM_007294.4(BRCA1):c.4644G>A (p.Thr1548=)
|
rs28897692
|
0.00008
|
|
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)
|
rs369483167
|
0.00008
|
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00008
|
|
NM_024334.3(TMEM43):c.798G>A (p.Arg266=)
|
rs139078900
|
0.00008
|
|
NM_025132.4(WDR19):c.2454C>T (p.Ala818=)
|
rs748535483
|
0.00008
|
|
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)
|
rs55996097
|
0.00007
|
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00007
|
|
NM_000059.4(BRCA2):c.987G>A (p.Arg329=)
|
rs561002197
|
0.00007
|
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
|
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)
|
rs4986984
|
0.00007
|
|
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His)
|
rs374255381
|
0.00007
|
|
NM_000335.5(SCN5A):c.1842A>G (p.Pro614=)
|
rs766696979
|
0.00007
|
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00007
|
|
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)
|
rs199473625
|
0.00007
|
|
NM_001035.3(RYR2):c.10017C>T (p.His3339=)
|
rs376439588
|
0.00007
|
|
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)
|
rs370057029
|
0.00007
|
|
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr)
|
rs144123257
|
0.00007
|
|
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=)
|
rs61750246
|
0.00007
|
|
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)
|
rs541125667
|
0.00007
|
|
NM_001267550.2(TTN):c.103365C>T (p.Arg34455=)
|
rs398124462
|
0.00007
|
|
NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met)
|
rs759406486
|
0.00007
|
|
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=)
|
rs200410212
|
0.00007
|
|
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=)
|
rs183047238
|
0.00007
|
|
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile)
|
rs199860952
|
0.00007
|
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
|
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)
|
rs80338862
|
0.00007
|
|
NM_001370259.2(MEN1):c.1185+12G>A
|
rs373609932
|
0.00007
|
|
NM_001759.4(CCND2):c.455C>A (p.Ala152Glu)
|
rs199719393
|
0.00007
|
|
NM_002230.4(JUP):c.1774-6C>T
|
rs375016135
|
0.00007
|
|
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
|
rs570878629
|
0.00007
|
|
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=)
|
rs368497504
|
0.00007
|
|
NM_002691.4(POLD1):c.2178G>C (p.Gln726His)
|
rs747483140
|
0.00007
|
|
NM_007294.4(BRCA1):c.5278-14C>G
|
rs80358105
|
0.00007
|
|
NM_015338.6(ASXL1):c.1907C>T (p.Ala636Val)
|
rs370230857
|
0.00007
|
|
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)
|
rs201850378
|
0.00007
|
|
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)
|
rs200276333
|
0.00007
|
|
NM_032578.4(MYPN):c.251A>G (p.Asn84Ser)
|
rs768968410
|
0.00007
|
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
|
NM_000051.4(ATM):c.7521C>T (p.Asp2507=)
|
rs751234924
|
0.00006
|
|
NM_000053.4(ATP7B):c.325C>T (p.Leu109=)
|
rs751920801
|
0.00006
|
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
|
NM_000249.4(MLH1):c.1104G>A (p.Ser368=)
|
rs769364808
|
0.00006
|
|
NM_000337.6(SGCD):c.295-20C>A
|
rs144250417
|
0.00006
|
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
|
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
|
NM_001002029.4(C4B):c.2719A>G (p.Thr907Ala)
|
rs796750528
|
0.00006
|
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
|
NM_001035.3(RYR2):c.14808+17A>C
|
rs368520821
|
0.00006
|
|
NM_001035.3(RYR2):c.6738G>T (p.Ser2246=)
|
rs368207198
|
0.00006
|
|
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=)
|
rs370740528
|
0.00006
|
|
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=)
|
rs149554430
|
0.00006
|
|
NM_001105206.3(LAMA4):c.4287+16G>A
|
rs140156070
|
0.00006
|
|
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys)
|
rs561557554
|
0.00006
|
|
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)
|
rs377556808
|
0.00006
|
|
NM_001267550.2(TTN):c.20837-12G>A
|
rs534822724
|
0.00006
|
|
NM_001267550.2(TTN):c.23382T>A (p.Pro7794=)
|
rs768874223
|
0.00006
|
|
NM_001267550.2(TTN):c.31270+12G>T
|
rs564264476
|
0.00006
|
|
NM_001267550.2(TTN):c.32070C>T (p.Val10690=)
|
rs757316831
|
0.00006
|
|
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu)
|
rs777009984
|
0.00006
|
|
NM_001267550.2(TTN):c.64673-5T>C
|
rs530496528
|
0.00006
|
|
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly)
|
rs375830234
|
0.00006
|
|
NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met)
|
rs556000493
|
0.00006
|
|
NM_001267550.2(TTN):c.86463A>G (p.Gly28821=)
|
rs368268066
|
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_002230.4(JUP):c.1909C>T (p.Arg637Cys)
|
rs531732438
|
0.00006
|
|
NM_002471.4(MYH6):c.3177C>T (p.Gly1059=)
|
rs529676901
|
0.00006
|
|
NM_003280.3(TNNC1):c.195C>T (p.Asp65=)
|
rs370426309
|
0.00006
|
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
|
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)
|
rs553805862
|
0.00006
|
|
NM_007194.4(CHEK2):c.1260-10C>G
|
rs730881706
|
0.00006
|
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
|
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=)
|
rs372002119
|
0.00006
|
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
|
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu)
|
rs142392597
|
0.00006
|
|
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)
|
rs759202535
|
0.00006
|
|
NM_017882.3(CLN6):c.199-5C>T
|
rs371705916
|
0.00006
|
|
NM_020297.4(ABCC9):c.4512+711G>A
|
rs72559751
|
0.00006
|
|
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser)
|
rs764006601
|
0.00006
|
|
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)
|
rs752140135
|
0.00006
|
|
NM_152732.5(RSPH9):c.2T>C (p.Met1Thr)
|
rs1395940101
|
0.00006
|
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
|
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly)
|
rs543697946
|
0.00006
|
|
NM_181486.4(TBX5):c.786C>T (p.Thr262=)
|
rs375955080
|
0.00006
|
|
NM_194277.3(FRMD7):c.899G>A (p.Arg300His)
|
rs773529900
|
0.00006
|
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00005
|
|
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)
|
rs80359105
|
0.00005
|
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00005
|
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
|
NM_000257.4(MYH7):c.3273C>T (p.Asn1091=)
|
rs200664031
|
0.00005
|
|
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg)
|
rs199473128
|
0.00005
|
|
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=)
|
rs377173580
|
0.00005
|
|
NM_000384.3(APOB):c.10025C>T (p.Ser3342Phe)
|
rs267599180
|
0.00005
|
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00005
|
|
NM_001035.3(RYR2):c.12189G>A (p.Thr4063=)
|
rs368948386
|
0.00005
|
|
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)
|
rs201218861
|
0.00005
|
|
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=)
|
rs782058486
|
0.00005
|
|
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser)
|
rs372567331
|
0.00005
|
|
NM_001267550.2(TTN):c.12543C>T (p.Thr4181=)
|
rs764856949
|
0.00005
|
|
NM_001267550.2(TTN):c.20837-19A>G
|
rs554860016
|
0.00005
|
|
NM_001267550.2(TTN):c.33173-4G>A
|
rs727504440
|
0.00005
|
|
NM_001267550.2(TTN):c.42847C>T (p.Arg14283Cys)
|
rs199684560
|
0.00005
|
|
NM_001267550.2(TTN):c.49704A>G (p.Val16568=)
|
rs565691537
|
0.00005
|
|
NM_001267550.2(TTN):c.54811+10C>T
|
rs796651993
|
0.00005
|
|
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His)
|
rs771284532
|
0.00005
|
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00005
|
|
NM_001267550.2(TTN):c.63464G>A (p.Arg21155His)
|
rs373169150
|
0.00005
|
|
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His)
|
rs398124455
|
0.00005
|
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
|
NM_001458.5(FLNC):c.2041G>A (p.Gly681Ser)
|
rs199705417
|
0.00005
|
|
NM_002230.4(JUP):c.460G>A (p.Glu154Lys)
|
rs782765314
|
0.00005
|
|
NM_002471.4(MYH6):c.5334C>T (p.Ser1778=)
|
rs556492704
|
0.00005
|
|
NM_002471.4(MYH6):c.5427A>C (p.Gly1809=)
|
rs149294569
|
0.00005
|
|
NM_004006.3(DMD):c.434G>A (p.Arg145Gln)
|
rs398123952
|
0.00005
|
|
NM_004360.5(CDH1):c.1224G>A (p.Ala408=)
|
rs200161607
|
0.00005
|
|
NM_005477.3(HCN4):c.1254C>T (p.Ile418=)
|
rs373794941
|
0.00005
|
|
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met)
|
rs782208622
|
0.00005
|
|
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr)
|
rs774976112
|
0.00005
|
|
NM_007078.3(LDB3):c.992C>T (p.Ala331Val)
|
rs368053281
|
0.00005
|
|
NM_007217.4(PDCD10):c.104G>A (p.Arg35Gln)
|
rs201796692
|
0.00005
|
|
NM_007294.4(BRCA1):c.670+16G>A
|
rs199916228
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=)
|
rs374476363
|
0.00005
|
|
NM_130837.3(OPA1):c.2213G>A (p.Arg738His)
|
rs542540811
|
0.00005
|
|
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile)
|
rs80358853
|
0.00004
|
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.371-6C>A
|
rs782195445
|
0.00004
|
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
|
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)
|
rs267607840
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
|
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=)
|
rs371842442
|
0.00004
|
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
|
NM_000302.4(PLOD1):c.1651-2A>G
|
rs565513365
|
0.00004
|
|
NM_000335.5(SCN5A):c.1281C>T (p.Thr427=)
|
rs375989197
|
0.00004
|
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
|
NM_000419.5(ITGA2B):c.3060+2T>C
|
rs74664206
|
0.00004
|
|
NM_000432.4(MYL2):c.353+16G>A
|
rs572363699
|
0.00004
|
|
NM_000432.4(MYL2):c.403-1G>C
|
rs199474813
|
0.00004
|
|
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)
|
rs74315458
|
0.00004
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
rs28941776
|
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.*17G>C
|
rs556089649
|
0.00004
|
|
NM_001005242.3(PKP2):c.1034+10C>T
|
rs759397762
|
0.00004
|
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
|
NM_001035.3(RYR2):c.4160+7A>G
|
rs377465289
|
0.00004
|
|
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His)
|
rs201335965
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr)
|
rs544843583
|
0.00004
|
|
NM_001134363.3(RBM20):c.3574-6C>G
|
rs762069628
|
0.00004
|
|
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)
|
rs757918924
|
0.00004
|
|
NM_001267550.2(TTN):c.107254C>T (p.Arg35752Cys)
|
rs528535076
|
0.00004
|
|
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=)
|
rs376820575
|
0.00004
|
|
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=)
|
rs372654116
|
0.00004
|
|
NM_001267550.2(TTN):c.30538+6T>G
|
rs1363737815
|
0.00004
|
|
NM_001267550.2(TTN):c.39128-12T>A
|
rs779588688
|
0.00004
|
|
NM_001267550.2(TTN):c.46697-19_46697-18del
|
rs530484268
|
0.00004
|
|
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)
|
rs376188859
|
0.00004
|
|
NM_001267550.2(TTN):c.51249C>A (p.Val17083=)
|
rs377342233
|
0.00004
|
|
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser)
|
rs201904897
|
0.00004
|
|
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu)
|
rs374118468
|
0.00004
|
|
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=)
|
rs774995592
|
0.00004
|
|
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His)
|
rs776018262
|
0.00004
|
|
NM_001267550.2(TTN):c.96390G>A (p.Thr32130=)
|
rs200999706
|
0.00004
|
|
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=)
|
rs4252582
|
0.00004
|
|
NM_001291867.2(NHS):c.2663T>C (p.Met888Thr)
|
rs200321491
|
0.00004
|
|
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)
|
rs558548172
|
0.00004
|
|
NM_001943.5(DSG2):c.273A>G (p.Gly91=)
|
rs376944801
|
0.00004
|
|
NM_001943.5(DSG2):c.390C>T (p.Tyr130=)
|
rs369489095
|
0.00004
|
|
NM_002230.4(JUP):c.1902G>T (p.Leu634=)
|
rs145808264
|
0.00004
|
|
NM_003119.4(SPG7):c.1422C>T (p.His474=)
|
rs201482100
|
0.00004
|
|
NM_003334.4(UBA1):c.2376G>A (p.Gln792=)
|
rs782085921
|
0.00004
|
|
NM_004006.3(DMD):c.4275A>G (p.Glu1425=)
|
rs72468647
|
0.00004
|
|
NM_004415.4(DSP):c.939C>T (p.Ser313=)
|
rs766580649
|
0.00004
|
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
|
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu)
|
rs371649487
|
0.00004
|
|
NM_014000.3(VCL):c.1177-14G>A
|
rs778137720
|
0.00004
|
|
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=)
|
rs397517268
|
0.00004
|
|
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=)
|
rs764162597
|
0.00004
|
|
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=)
|
rs554737227
|
0.00004
|
|
NM_020297.4(ABCC9):c.142+19T>A
|
rs547603072
|
0.00004
|
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
0.00004
|
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
|
NM_033118.4(MYLK2):c.417C>T (p.Ala139=)
|
rs560951755
|
0.00004
|
|
NM_053025.4(MYLK):c.2183G>A (p.Arg728His)
|
rs370154845
|
0.00004
|
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
|
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg)
|
rs80359167
|
0.00003
|
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
|
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)
|
rs766518430
|
0.00003
|
|
NM_000179.3(MSH6):c.3703C>G (p.Leu1235Val)
|
rs876661084
|
0.00003
|
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00003
|
|
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu)
|
rs63750226
|
0.00003
|
|
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)
|
rs730880870
|
0.00003
|
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
|
NM_000257.4(MYH7):c.531C>T (p.Thr177=)
|
rs200035152
|
0.00003
|
|
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590
|
0.00003
|
|
NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys)
|
rs550562774
|
0.00003
|
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00003
|
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
|
NM_000335.5(SCN5A):c.4071G>A (p.Gly1357=)
|
rs780532060
|
0.00003
|
|
NM_000384.3(APOB):c.11503A>C (p.Ile3835Leu)
|
rs776119459
|
0.00003
|
|
NM_000455.5(STK11):c.1200G>A (p.Leu400=)
|
rs368661707
|
0.00003
|
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00003
|
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00003
|
|
NM_001018005.2(TPM1):c.241-8C>T
|
rs765893032
|
0.00003
|
|
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=)
|
rs756280887
|
0.00003
|
|
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr)
|
rs189345192
|
0.00003
|
|
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)
|
rs200302954
|
0.00003
|
|
NM_001267550.2(TTN):c.100766-9dup
|
rs202238743
|
0.00003
|
|
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys)
|
rs397517502
|
0.00003
|
|
NM_001267550.2(TTN):c.26944G>A (p.Ala8982Thr)
|
rs1384345252
|
0.00003
|
|
NM_001267550.2(TTN):c.33172+14A>G
|
rs752797605
|
0.00003
|
|
NM_001267550.2(TTN):c.44367C>T (p.Tyr14789=)
|
rs750270873
|
0.00003
|
|
NM_001267550.2(TTN):c.50355-15T>C
|
rs757425897
|
0.00003
|
|
NM_001267550.2(TTN):c.51483G>A (p.Ala17161=)
|
rs397517604
|
0.00003
|
|
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)
|
rs553313488
|
0.00003
|
|
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly)
|
rs727504490
|
0.00003
|
|
NM_001267550.2(TTN):c.73782C>T (p.Leu24594=)
|
rs187307196
|
0.00003
|
|
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys)
|
rs886039083
|
0.00003
|
|
NM_001267550.2(TTN):c.96960T>C (p.Ala32320=)
|
rs141431591
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs)
|
rs1307758243
|
0.00003
|
|
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)
|
rs121909767
|
0.00003
|
|
NM_001972.4(ELANE):c.201G>T (p.Ser67=)
|
rs200254961
|
0.00003
|
|
NM_002230.4(JUP):c.335A>G (p.Asn112Ser)
|
rs372364561
|
0.00003
|
|
NM_002471.4(MYH6):c.3909G>C (p.Leu1303=)
|
rs572682388
|
0.00003
|
|
NM_002529.4(NTRK1):c.117C>T (p.Ala39=)
|
rs746293720
|
0.00003
|
|
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)
|
rs751437780
|
0.00003
|
|
NM_004006.3(DMD):c.6614+7C>T
|
rs180719577
|
0.00003
|
|
NM_004281.4(BAG3):c.483G>A (p.Gln161=)
|
rs758279156
|
0.00003
|
|
NM_004415.4(DSP):c.1904-17C>G
|
rs370715047
|
0.00003
|
|
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)
|
rs535202724
|
0.00003
|
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00003
|
|
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00003
|
|
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)
|
rs80357413
|
0.00003
|
|
NM_014000.3(VCL):c.2265T>C (p.Ser755=)
|
rs147887754
|
0.00003
|
|
NM_014615.5(GSE1):c.2882C>T (p.Ser961Leu)
|
rs758342626
|
0.00003
|
|
NM_015909.4(NBAS):c.6311G>A (p.Arg2104Gln)
|
rs773412024
|
0.00003
|
|
NM_020774.4(MIB1):c.2305C>T (p.Arg769Ter)
|
rs752243957
|
0.00003
|
|
NM_022114.4(PRDM16):c.2259C>T (p.Ala753=)
|
rs548246861
|
0.00003
|
|
NM_022114.4(PRDM16):c.2663G>A (p.Arg888Gln)
|
rs201119848
|
0.00003
|
|
NM_024079.5(ALG8):c.685C>T (p.Arg229Ter)
|
rs533704173
|
0.00003
|
|
NM_133379.5(TTN):c.11928G>A (p.Thr3976=)
|
rs548317101
|
0.00003
|
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
|
NM_153252.5(BRWD3):c.2096G>A (p.Arg699Gln)
|
rs777374143
|
0.00003
|
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
|
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)
|
rs762130433
|
0.00003
|
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
|
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg)
|
rs80358466
|
0.00002
|
|
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)
|
rs587782191
|
0.00002
|
|
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)
|
rs80359078
|
0.00002
|
|
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)
|
rs761607612
|
0.00002
|
|
NM_000249.4(MLH1):c.303T>G (p.Gly101=)
|
rs4647220
|
0.00002
|
|
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr)
|
rs730881778
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1458-6G>A
|
rs375347534
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2112C>T (p.Asp704=)
|
rs547477069
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
|
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=)
|
rs200728597
|
0.00002
|
|
NM_000257.4(MYH7):c.706G>A (p.Val236Ile)
|
rs397516261
|
0.00002
|
|
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
|
rs765729815
|
0.00002
|
|
NM_000335.5(SCN5A):c.1308G>A (p.Glu436=)
|
rs555224775
|
0.00002
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
rs397509365
|
0.00002
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
rs730882096
|
0.00002
|
|
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)
|
rs727503373
|
0.00002
|
|
NM_001035.3(RYR2):c.12111C>T (p.Pro4037=)
|
rs770463326
|
0.00002
|
|
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer)
|
rs771819481
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)
|
rs374063403
|
0.00002
|
|
NM_001159699.2(FHL1):c.737-12_737-8del
|
rs761074507
|
0.00002
|
|
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=)
|
rs760724229
|
0.00002
|
|
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=)
|
rs398124450
|
0.00002
|
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00002
|
|
NM_001267550.2(TTN):c.44472T>C (p.Asp14824=)
|
rs377441854
|
0.00002
|
|
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=)
|
rs1455525236
|
0.00002
|
|
NM_001267550.2(TTN):c.48312+3G>T
|
rs368650224
|
0.00002
|
|
NM_001267550.2(TTN):c.57369C>T (p.Thr19123=)
|
rs199742163
|
0.00002
|
|
NM_001267550.2(TTN):c.57405A>G (p.Gln19135=)
|
rs773605848
|
0.00002
|
|
NM_001267550.2(TTN):c.58351C>T (p.Arg19451Cys)
|
rs763871350
|
0.00002
|
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
|
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln)
|
rs201448988
|
0.00002
|
|
NM_001267550.2(TTN):c.7331-11T>C
|
rs1198109375
|
0.00002
|
|
NM_001267550.2(TTN):c.7383G>A (p.Lys2461=)
|
rs752865519
|
0.00002
|
|
NM_001267550.2(TTN):c.74378C>T (p.Ser24793Leu)
|
rs766741890
|
0.00002
|
|
NM_001267550.2(TTN):c.74413G>A (p.Val24805Ile)
|
rs371306826
|
0.00002
|
|
NM_001267550.2(TTN):c.79545C>T (p.Gly26515=)
|
rs761713195
|
0.00002
|
|
NM_001267550.2(TTN):c.92152+7T>G
|
rs574211300
|
0.00002
|
|
NM_001267550.2(TTN):c.95877G>A (p.Val31959=)
|
rs373041862
|
0.00002
|
|
NM_001289808.2(CRYAB):c.516C>A (p.Ala172=)
|
rs143500486
|
0.00002
|
|
NM_001846.4(COL4A2):c.360+2T>C
|
rs2139454253
|
0.00002
|
|
NM_001943.5(DSG2):c.3225G>A (p.Thr1075=)
|
rs773954315
|
0.00002
|
|
NM_002230.4(JUP):c.654G>A (p.Gly218=)
|
rs112105828
|
0.00002
|
|
NM_002471.4(MYH6):c.1086C>T (p.Asn362=)
|
rs375189593
|
0.00002
|
|
NM_002666.5(PLIN1):c.1204G>A (p.Val402Met)
|
rs189637126
|
0.00002
|
|
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)
|
rs111033568
|
0.00002
|
|
NM_002878.4(RAD51D):c.576+1G>A
|
rs781161543
|
0.00002
|
|
NM_004006.3(DMD):c.6072T>C (p.Cys2024=)
|
rs373804251
|
0.00002
|
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
|
NM_005477.3(HCN4):c.1053C>T (p.Pro351=)
|
rs773287506
|
0.00002
|
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
|
NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys)
|
rs80357202
|
0.00002
|
|
NM_012200.4(B3GAT3):c.1A>T (p.Met1Leu)
|
rs139759238
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1248G>A (p.Ala416=)
|
rs1046657762
|
0.00002
|
|
NM_014639.4(SKIC3):c.2369C>T (p.Ala790Val)
|
rs750530127
|
0.00002
|
|
NM_014855.3(AP5Z1):c.1312-2A>G
|
rs989538601
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys)
|
rs749381544
|
0.00002
|
|
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn)
|
rs376694047
|
0.00002
|
|
NM_020778.5(ALPK3):c.4130-1G>A
|
rs762110595
|
0.00002
|
|
NM_022114.4(PRDM16):c.801G>A (p.Glu267=)
|
rs369972213
|
0.00002
|
|
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr)
|
rs202208033
|
0.00002
|
|
NM_024422.6(DSC2):c.943-1G>A
|
rs796756333
|
0.00002
|
|
NM_032578.4(MYPN):c.3711G>A (p.Lys1237=)
|
rs773992843
|
0.00002
|
|
NM_133379.5(TTN):c.13290T>C (p.Ser4430=)
|
rs571273316
|
0.00002
|
|
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=)
|
rs200616931
|
0.00002
|
|
NM_206926.2(SELENON):c.1325C>T (p.Ser442Leu)
|
rs368377980
|
0.00002
|
|
NM_213599.3(ANO5):c.1689T>C (p.Phe563=)
|
rs527322470
|
0.00002
|
|
NC_000011.10:g.47335082_47335083del
|
rs397515990
|
0.00001
|
|
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys)
|
rs1255903649
|
0.00001
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
0.00001
|
|
NM_000051.4(ATM):c.2466A>G (p.Leu822=)
|
rs747108452
|
0.00001
|
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
|
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys)
|
rs80358422
|
0.00001
|
|
NM_000059.4(BRCA2):c.1860T>G (p.Phe620Leu)
|
rs1064793402
|
0.00001
|
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
|
NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn)
|
rs398122756
|
0.00001
|
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
|
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)
|
rs80358849
|
0.00001
|
|
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del)
|
rs80359581
|
0.00001
|
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
|
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr)
|
rs80358950
|
0.00001
|
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
rs45580035
|
0.00001
|
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
|
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter)
|
rs765027608
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=)
|
rs797040235
|
0.00001
|
|
NM_000117.3(EMD):c.149C>A (p.Pro50His)
|
rs782021157
|
0.00001
|
|
NM_000143.4(FH):c.648T>A (p.Asp216Glu)
|
rs199536615
|
0.00001
|
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
|
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)
|
rs587779282
|
0.00001
|
|
NM_000215.4(JAK3):c.3208-1G>A
|
rs1160856608
|
0.00001
|
|
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)
|
rs730881768
|
0.00001
|
|
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg)
|
rs781948606
|
0.00001
|
|
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn)
|
rs564101364
|
0.00001
|
|
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)
|
rs727504240
|
0.00001
|
|
NM_000257.4(MYH7):c.2727C>A (p.Ile909=)
|
rs377722048
|
0.00001
|
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
0.00001
|
|
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)
|
rs373514686
|
0.00001
|
|
NM_000257.4(MYH7):c.896-17C>T
|
rs569428750
|
0.00001
|
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
|
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter)
|
rs199422211
|
0.00001
|
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
0.00001
|
|
NM_000335.5(SCN5A):c.1050C>T (p.His350=)
|
rs587781160
|
0.00001
|
|
NM_000335.5(SCN5A):c.1716C>T (p.Ala572=)
|
rs796636336
|
0.00001
|
|
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr)
|
rs1373296470
|
0.00001
|
|
NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=)
|
rs1438433663
|
0.00001
|
|
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)
|
rs104894724
|
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_000391.4(TPP1):c.1397T>G (p.Val466Gly)
|
rs398122959
|
0.00001
|
|
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=)
|
rs553616378
|
0.00001
|
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
|
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)
|
rs74503330
|
0.00001
|
|
NM_000527.4(LDLR):c.313+1G>A
|
rs112029328
|
0.00001
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
rs28942079
|
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.1359-1G>A
|
rs139617694
|
0.00001
|
|
NM_000527.5(LDLR):c.191-2A>G
|
rs544203837
|
0.00001
|
|
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)
|
rs193922570
|
0.00001
|
|
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)
|
rs11547917
|
0.00001
|
|
NM_000535.7(PMS2):c.354C>T (p.Ser118=)
|
rs760615315
|
0.00001
|
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
|
NM_000548.5(TSC2):c.599+3A>G
|
rs397514899
|
0.00001
|
|
NM_001005242.3(PKP2):c.2070C>G (p.Thr690=)
|
rs587781109
|
0.00001
|
|
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)
|
rs764698152
|
0.00001
|
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
|
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser)
|
rs782419414
|
0.00001
|
|
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)
|
rs267607001
|
0.00001
|
|
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)
|
rs1393804220
|
0.00001
|
|
NM_001198800.3(ASCC1):c.626+1G>A
|
rs747595523
|
0.00001
|
|
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys)
|
rs943777958
|
0.00001
|
|
NM_001267550.2(TTN):c.104082A>G (p.Ser34694=)
|
rs1413571023
|
0.00001
|
|
NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala)
|
rs368779151
|
0.00001
|
|
NM_001267550.2(TTN):c.1089G>A (p.Thr363=)
|
rs528675109
|
0.00001
|
|
NM_001267550.2(TTN):c.11605G>C (p.Val3869Leu)
|
rs747929496
|
0.00001
|
|
NM_001267550.2(TTN):c.1920G>A (p.Val640=)
|
rs1361872004
|
0.00001
|
|
NM_001267550.2(TTN):c.21570T>G (p.Thr7190=)
|
rs889991615
|
0.00001
|
|
NM_001267550.2(TTN):c.2229C>T (p.Ala743=)
|
rs746990488
|
0.00001
|
|
NM_001267550.2(TTN):c.22629G>A (p.Pro7543=)
|
rs776917811
|
0.00001
|
|
NM_001267550.2(TTN):c.23469A>G (p.Pro7823=)
|
rs551736293
|
0.00001
|
|
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn)
|
rs377074955
|
0.00001
|
|
NM_001267550.2(TTN):c.26247T>C (p.Val8749=)
|
rs765248456
|
0.00001
|
|
NM_001267550.2(TTN):c.27312A>G (p.Thr9104=)
|
rs192433938
|
0.00001
|
|
NM_001267550.2(TTN):c.28353C>T (p.Ser9451=)
|
rs777096848
|
0.00001
|
|
NM_001267550.2(TTN):c.30539-19A>G
|
rs1343835676
|
0.00001
|
|
NM_001267550.2(TTN):c.33664+5A>G
|
rs548811016
|
0.00001
|
|
NM_001267550.2(TTN):c.42750G>A (p.Leu14250=)
|
rs1273953637
|
0.00001
|
|
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys)
|
rs577133803
|
0.00001
|
|
NM_001267550.2(TTN):c.5106A>G (p.Lys1702=)
|
rs1223225845
|
0.00001
|
|
NM_001267550.2(TTN):c.53581+19T>C
|
rs764528095
|
0.00001
|
|
NM_001267550.2(TTN):c.58299T>G (p.Thr19433=)
|
rs778334134
|
0.00001
|
|
NM_001267550.2(TTN):c.63516G>A (p.Pro21172=)
|
rs372493799
|
0.00001
|
|
NM_001267550.2(TTN):c.68421A>C (p.Gly22807=)
|
rs565644396
|
0.00001
|
|
NM_001267550.2(TTN):c.69630C>T (p.Tyr23210=)
|
rs777602537
|
0.00001
|
|
NM_001267550.2(TTN):c.70854A>G (p.Glu23618=)
|
rs768115158
|
0.00001
|
|
NM_001267550.2(TTN):c.90799A>G (p.Thr30267Ala)
|
rs377365979
|
0.00001
|
|
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)
|
rs146572907
|
0.00001
|
|
NM_001267550.2(TTN):c.97192+6G>A
|
rs367760700
|
0.00001
|
|
NM_001267550.2(TTN):c.98781T>C (p.Ser32927=)
|
rs750855113
|
0.00001
|
|
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln)
|
rs754037135
|
0.00001
|
|
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)
|
rs80338860
|
0.00001
|
|
NM_001372044.2(SHANK3):c.2455+1G>A
|
rs1396379503
|
0.00001
|
|
NM_001458.5(FLNC):c.3180del (p.Asp1061fs)
|
rs1064795229
|
0.00001
|
|
NM_001927.4(DES):c.894G>A (p.Ser298=)
|
rs747073500
|
0.00001
|
|
NM_001943.5(DSG2):c.222T>C (p.His74=)
|
rs367797047
|
0.00001
|
|
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val)
|
rs1340367353
|
0.00001
|
|
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)
|
rs111033560
|
0.00001
|
|
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
|
rs111033565
|
0.00001
|
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
|
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
|
rs200245469
|
0.00001
|
|
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro)
|
rs782024654
|
0.00001
|
|
NM_004100.5(EYA4):c.888G>A (p.Ser296=)
|
rs768010410
|
0.00001
|
|
NM_004360.5(CDH1):c.27G>A (p.Ser9=)
|
rs786201257
|
0.00001
|
|
NM_004415.4(DSP):c.939+1G>A
|
rs727504443
|
0.00001
|
|
NM_004722.4(AP4M1):c.1137+1G>T
|
rs770705832
|
0.00001
|
|
NM_005159.5(ACTC1):c.129+19_129+20insT
|
rs386134228
|
0.00001
|
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
|
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)
|
rs267607061
|
0.00001
|
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
|
NM_007294.4(BRCA1):c.2005A>G (p.Met669Val)
|
rs561988641
|
0.00001
|
|
NM_007294.4(BRCA1):c.212+3A>G
|
rs80358083
|
0.00001
|
|
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu)
|
rs876660005
|
0.00001
|
|
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)
|
rs80356988
|
0.00001
|
|
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys)
|
rs761925468
|
0.00001
|
|
NM_007294.4(BRCA1):c.4986+6T>C
|
rs80358086
|
0.00001
|
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
0.00001
|
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
|
NM_014000.3(VCL):c.3154-6C>T
|
rs371257509
|
0.00001
|
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
|
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe)
|
rs397517251
|
0.00001
|
|
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)
|
rs193919337
|
0.00001
|
|
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr)
|
rs1443735811
|
0.00001
|
|
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu)
|
rs376328153
|
0.00001
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
0.00001
|
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
|
NM_020778.5(ALPK3):c.3867C>T (p.Ser1289=)
|
rs188837127
|
0.00001
|
|
NM_020778.5(ALPK3):c.428G>A (p.Arg143Gln)
|
rs372329290
|
0.00001
|
|
NM_020964.3(EPG5):c.5869+1G>A
|
rs748670315
|
0.00001
|
|
NM_022114.4(PRDM16):c.3288G>A (p.Ala1096=)
|
rs754951901
|
0.00001
|
|
NM_024675.4(PALB2):c.3113+5G>C
|
rs876659463
|
0.00001
|
|
NM_032578.4(MYPN):c.3075+20C>T
|
rs377273417
|
0.00001
|
|
NM_033337.3(CAV3):c.165C>T (p.Asp55=)
|
rs759446749
|
0.00001
|
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
|
NM_133379.5(TTN):c.10842A>G (p.Glu3614=)
|
rs796091067
|
0.00001
|
|
NM_133379.5(TTN):c.14055A>G (p.Arg4685=)
|
rs1466986172
|
0.00001
|
|
NM_144573.4(NEXN):c.66T>C (p.Tyr22=)
|
rs749182975
|
0.00001
|
|
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln)
|
rs375352888
|
0.00001
|
|
NM_152384.3(BBS5):c.209-2A>G
|
rs1477098739
|
0.00001
|
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
|
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met)
|
rs57629361
|
0.00001
|
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
|
NM_000027.4(AGA):c.336del (p.Ile112fs)
|
rs386833422
|
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
|
NM_000038.6(APC):c.2995C>T (p.Gln999Ter)
|
rs75239284
|
|
|
NM_000038.6(APC):c.423-17dup
|
rs35031194
|
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
|
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup)
|
rs3032358
|
|
|
NM_000049.4(ASPA):c.693C>T (p.Tyr231=)
|
rs12948217
|
|
|
NM_000051.4(ATM):c.1236-3del
|
rs34325032
|
|
|
NM_000051.4(ATM):c.1236-3dup
|
rs34325032
|
|
|
NM_000051.4(ATM):c.3285-9del
|
rs1799757
|
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
|
NM_000051.4(ATM):c.3403-13dup
|
rs3218681
|
|
|
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter)
|
rs886039592
|
|
|
NM_000051.4(ATM):c.497-4del
|
rs768748099
|
|
|
NM_000051.4(ATM):c.497-4dup
|
rs768748099
|
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
|
NM_000059.4(BRCA2):c.10094_10095insGAATTATAT (p.Val3365_Ser3366insAsnTyrIle)
|
rs758307938
|
|
|
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs)
|
rs80359276
|
|
|
NM_000059.4(BRCA2):c.1816C>T (p.Pro606Ser)
|
rs765924757
|
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
|
NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr)
|
rs730881536
|
|
|
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter)
|
rs886038122
|
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
rs80358805
|
|
|
NM_000059.4(BRCA2):c.6369A>C (p.Glu2123Asp)
|
rs1064793571
|
|
|
NM_000059.4(BRCA2):c.7051G>T (p.Ala2351Ser)
|
rs80358930
|
|
|
NM_000059.4(BRCA2):c.7370T>G (p.Phe2457Cys)
|
rs876661273
|
|
|
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro)
|
rs80359021
|
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
|
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)
|
rs80359046
|
|
|
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)
|
rs41293513
|
|
|
NM_000059.4(BRCA2):c.8332-2A>G
|
rs587782774
|
|
|
NM_000059.4(BRCA2):c.8632+1G>T
|
rs397507997
|
|
|
NM_000059.4(BRCA2):c.8754+5G>A
|
rs81002813
|
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
|
NM_000081.4(LYST):c.11268-5del
|
rs36014994
|
|
|
NM_000085.5(CLCNKB):c.2017-16C>T
|
rs61769892
|
|
|
NM_000094.4(COL7A1):c.7875+1G>C
|
rs2107637140
|
|
|
NM_000096.4(CP):c.2286-14dup
|
rs561633350
|
|
|
NM_000096.4(CP):c.2286-15G>T
|
rs34861155
|
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
|
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=)
|
rs376379156
|
|
|
NM_000138.5(FBN1):c.5423-30_5423-28del
|
rs56354352
|
|
|
NM_000140.5(FECH):c.163G>T (p.Gly55Cys)
|
rs3848519
|
|
|
NM_000151.4(G6PC1):c.79del (p.Gln27fs)
|
rs80356479
|
|
|
NM_000153.3(GALC):c.1834+22dup
|
rs34752717
|
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
|
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter)
|
rs1057520063
|
|
|
NM_000170.3(GLDC):c.27del (p.Leu10fs)
|
rs1414541286
|
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
|
NM_000179.3(MSH6):c.4002-10dup
|
rs59056100
|
|
|
NM_000179.3(MSH6):c.4002-11_4002-10del
|
rs59056100
|
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
|
NM_000181.4(GUSB):c.1790-18dup
|
rs750022485
|
|
|
NM_000186.4(CFH):c.3134-5T>C
|
rs513699
|
|
|
NM_000194.3(HPRT1):c.319-7dup
|
rs371480320
|
|
|
NM_000203.5(IDUA):c.1230C>G (p.Thr410=)
|
rs115790973
|
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
|
NM_000213.5(ITGB4):c.2009G>A (p.Arg670His)
|
rs149659118
|
|
|
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg)
|
rs863223650
|
|
|
NM_000224.3(KRT18):c.268C>T (p.Arg90Cys)
|
rs1397020078
|
|
|
NM_000224.3(KRT18):c.274G>C (p.Ala92Pro)
|
rs1434610693
|
|
|
NM_000224.3(KRT18):c.300C>G (p.Ser100Arg)
|
rs796361379
|
|
|
NM_000235.4(LIPA):c.45G>A (p.Trp15Ter)
|
rs2133468001
|
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTA
|
rs535965616
|
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTA
|
rs535965616
|
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
|
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)
|
rs63751310
|
|
|
NM_000249.4(MLH1):c.454-13A>G
|
rs267607749
|
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
|
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)
|
rs863225387
|
|
|
NM_000251.3(MSH2):c.1661+5G>T
|
rs267607972
|
|
|
NM_000251.3(MSH2):c.942+17_942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.942+25_942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.942+29del
|
rs11309117
|
|
|
NM_000256.3(MYBPC3):c.1090+1G>A
|
rs727504269
|
|
|
NM_000256.3(MYBPC3):c.1311G>C (p.Val437=)
|
rs1060504240
|
|
|
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)
|
rs727504287
|
|
|
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg)
|
rs730880695
|
|
|
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp)
|
rs775404728
|
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
|
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu)
|
rs2069544
|
|
|
NM_000257.4(MYH7):c.2358G>T (p.Thr786=)
|
rs36211714
|
|
|
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn)
|
rs886039204
|
|
|
NM_000257.4(MYH7):c.4954-5C>T
|
rs962469283
|
|
|
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln)
|
rs730880822
|
|
|
NM_000257.4(MYH7):c.5773C>G (p.Arg1925Gly)
|
rs755706526
|
|
|
NM_000264.5(PTCH1):c.1602+15_1602+17del
|
rs528001004
|
|
|
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
|
rs2058768195
|
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+10dup
|
rs3837910
|
|
|
NM_000271.5(NPC1):c.1947+8_1947+9dup
|
rs3837910
|
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
|
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)
|
rs775982338
|
|
|
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)
|
rs72555383
|
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
|
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter)
|
rs730882131
|
|
|
NM_000314.8(PTEN):c.802-3del
|
rs34003473
|
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
|
NM_000314.8(PTEN):c.802-4_802-3dup
|
rs34003473
|
|
|
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)
|
rs36210423
|
|
|
NM_000335.5(SCN5A):c.2787+19AC[12]
|
rs41311517
|
|
|
NM_000335.5(SCN5A):c.2787+19AC[13]
|
rs41311517
|
|
|
NM_000335.5(SCN5A):c.327C>T (p.Asn109=)
|
rs199473056
|
|
|
NM_000335.5(SCN5A):c.3468C>T (p.Leu1156=)
|
rs570719978
|
|
|
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met)
|
rs199473297
|
|
|
NM_000337.6(SGCD):c.383-33CTCTCTAT[2]
|
rs727504998
|
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
|
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)
|
rs1368508052
|
|
|
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala)
|
rs730881083
|
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
|
NM_000371.4(TTR):c.325G>A (p.Glu109Lys)
|
rs121918082
|
|
|
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)
|
rs387906256
|
|
|
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
|
rs17240441
|
|
|
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
|
rs676210
|
|
|
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)
|
rs397515624
|
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
|
NM_000421.5(KRT10):c.1457_1458insAAGCT (p.His487fs)
|
rs762667965
|
|
|
NM_000432.4(MYL2):c.274+16_274+17insTC
|
rs200007468
|
|
|
NM_000432.4(MYL2):c.483C>A (p.His161Gln)
|
rs886039108
|
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
|
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp)
|
rs13306575
|
|
|
NM_000448.3(RAG1):c.140del (p.Lys47fs)
|
rs2133292794
|
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
|
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup)
|
rs754552080
|
|
|
NM_000478.6(ALPL):c.472+12del
|
rs35423948
|
|
|
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)
|
rs398123423
|
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
|
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
|
rs2071307
|
|
|
NM_000506.5(F2):c.423-7G>C
|
rs2070852
|
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
|
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys)
|
rs879254867
|
|
|
NM_000527.5(LDLR):c.1359-30C>T
|
rs1003723
|
|
|
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn)
|
rs730882102
|
|
|
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly)
|
rs879254918
|
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
|
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro)
|
rs879254936
|
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
|
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys)
|
rs879255045
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
rs875989944
|
|
|
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
|
rs879254386
|
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
rs121908029
|
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
|
NM_000535.7(PMS2):c.706-5_706-4del
|
rs60794673
|
|
|
NM_000540.3(RYR1):c.5435T>C (p.Leu1812Pro)
|
rs1969278145
|
|
|
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)
|
rs775860642
|
|
|
NM_000548.5(TSC2):c.-29-10G>C
|
rs28537973
|
|
|
NM_000733.4(CD3E):c.211G>C (p.Asp71His)
|
rs148647954
|
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
|
NM_001005242.3(PKP2):c.1557-8dup
|
rs200009796
|
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
|
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del)
|
rs771434359
|
|
|
NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln)
|
rs142389949
|
|
|
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs)
|
rs80359857
|
|
|
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln)
|
rs199476305
|
|
|
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met)
|
rs730881141
|
|
|
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=)
|
rs764447374
|
|
|
NM_001035.2(RYR2):c.14091-11dup
|
rs35563566
|
|
|
NM_001035.3(RYR2):c.1293-14A>G
|
rs752527636
|
|
|
NM_001035.3(RYR2):c.1477-11dup
|
rs397516518
|
|
|
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)
|
rs794728811
|
|
|
NM_001035.3(RYR2):c.310-23_310-21del
|
rs547213887
|
|
|
NM_001035.3(RYR2):c.3599-9del
|
rs11331089
|
|
|
NM_001035.3(RYR2):c.4597-11del
|
rs3841805
|
|
|
NM_001040142.2(SCN2A):c.1399G>T (p.Ala467Ser)
|
rs745774658
|
|
|
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)
|
rs1057520413
|
|
|
NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg)
|
rs1597722508
|
|
|
NM_001042492.3(NF1):c.4332+22_4332+25del
|
rs768273651
|
|
|
NM_001042492.3(NF1):c.61-4del
|
rs551568608
|
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
|
NM_001044385.3(TMEM237):c.870-13_870-12del
|
rs555284377
|
|
|
NM_001048174.2(MUTYH):c.1363A>C (p.Thr455Pro)
|
rs1570363119
|
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
|
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)
|
rs104895271
|
|
|
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=)
|
rs113591366
|
|
|
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val)
|
rs137853322
|
|
|
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del)
|
rs772766102
|
|
|
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del)
|
rs56717389
|
|
|
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=)
|
rs201152817
|
|
|
NM_001110792.2(MECP2):c.414-17del
|
rs61753982
|
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
|
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)
|
rs398123566
|
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
|
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del)
|
rs16054
|
|
|
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)
|
rs16054
|
|
|
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup)
|
rs16054
|
|
|
NM_001127644.2(GABRA1):c.857-9del
|
rs3214859
|
|
|
NM_001128164.2(ATXN1):c.636GCA[15] (p.Gln225dup)
|
rs751421308
|
|
|
NM_001130144.3(LTBP3):c.76CTG[11] (p.Leu35dup)
|
rs71036212
|
|
|
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup)
|
rs71036212
|
|
|
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=)
|
rs72758823
|
|
|
NM_001134363.3(RBM20):c.146_147del (p.Gln49fs)
|
rs2134793110
|
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
|
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)
|
rs796734066
|
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
|
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)
|
rs78631453
|
|
|
NM_001134831.2(AHI1):c.96dup (p.Leu33fs)
|
rs747322175
|
|
|
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup)
|
rs755226463
|
|
|
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del)
|
rs2307890
|
|
|
NM_001159699.2(FHL1):c.204+14C>G
|
rs2148372078
|
|
|
NM_001160148.2(DDHD1):c.325GGC[7] (p.Gly110_Gly112dup)
|
rs55671452
|
|
|
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup)
|
rs572827902
|
|
|
NM_001164508.2(NEB):c.17635-3dup
|
rs3214503
|
|
|
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)
|
rs794726799
|
|
|
NM_001165963.4(SCN1A):c.2177-11dup
|
rs11394960
|
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
|
NM_001166108.2(PALLD):c.1965-12758G>C
|
rs777359545
|
|
|
NM_001166108.2(PALLD):c.1965-12764G>C
|
rs863224384
|
|
|
NM_001166355.2(LFNG):c.163_166dup (p.Glu56delinsGlyTer)
|
rs34637446
|
|
|
NM_001183.6(ATP6AP1):c.96GGC[9] (p.Ala40_Ala41dup)
|
rs781797236
|
|
|
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup)
|
rs746953076
|
|
|
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter)
|
rs1057523275
|
|
|
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=)
|
rs890872
|
|
|
NM_001261826.3(AP3D1):c.2587GAGAAG[1] (p.863EK[1])
|
rs756601658
|
|
|
NM_001267550.2(TTN):c.11311+1080del
|
rs58651353
|
|
|
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=)
|
rs746578
|
|
|
NM_001267550.2(TTN):c.14092+20del
|
rs560021681
|
|
|
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)
|
rs72648929
|
|
|
NM_001267550.2(TTN):c.1560A>G (p.Thr520=)
|
rs2154354699
|
|
|
NM_001267550.2(TTN):c.16621+16T>G
|
rs2154310257
|
|
|
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg)
|
rs191057824
|
|
|
NM_001267550.2(TTN):c.18075C>T (p.Pro6025=)
|
rs557350005
|
|
|
NM_001267550.2(TTN):c.18590-3del
|
rs1336631346
|
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[10]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[5]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.2775+19G>T
|
rs199707799
|
|
|
NM_001267550.2(TTN):c.30683-17dup
|
rs368277751
|
|
|
NM_001267550.2(TTN):c.31762+5_31762+7del
|
rs397517538
|
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5])
|
rs397517548
|
|
|
NM_001267550.2(TTN):c.34708+9G>T
|
rs397517551
|
|
|
NM_001267550.2(TTN):c.3742_3745del (p.Ser1248fs)
|
rs2154347788
|
|
|
NM_001267550.2(TTN):c.38708-4T>C
|
rs200819643
|
|
|
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser)
|
rs150223722
|
|
|
NM_001267550.2(TTN):c.40222+2TA[10]
|
rs10580462
|
|
|
NM_001267550.2(TTN):c.40222+2TA[12]
|
rs10580462
|
|
|
NM_001267550.2(TTN):c.40222+2TA[9]
|
rs10580462
|
|
|
NM_001267550.2(TTN):c.41329+1G>T
|
rs796238032
|
|
|
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu)
|
rs577298130
|
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
|
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter)
|
rs376188859
|
|
|
NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly)
|
rs781195013
|
|
|
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)
|
rs751502842
|
|
|
NM_001267550.2(TTN):c.55452A>G (p.Lys18484=)
|
rs551509361
|
|
|
NM_001267550.2(TTN):c.57847+19del
|
rs111496283
|
|
|
NM_001267550.2(TTN):c.57847+7dup
|
rs111496283
|
|
|
NM_001267550.2(TTN):c.58388del (p.Asn19463fs)
|
rs2050854171
|
|
|
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)
|
rs886039027
|
|
|
NM_001267550.2(TTN):c.59926+1G>A
|
rs553526525
|
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
|
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)
|
rs141142920
|
|
|
NM_001267550.2(TTN):c.63793+1G>A
|
rs2154182296
|
|
|
NM_001267550.2(TTN):c.63794-1G>A
|
rs2049262622
|
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
|
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=)
|
rs72646894
|
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
|
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met)
|
rs56372592
|
|
|
NM_001267550.2(TTN):c.77452G>T (p.Glu25818Ter)
|
rs748619096
|
|
|
NM_001267550.2(TTN):c.79018G>T (p.Glu26340Ter)
|
rs2154166071
|
|
|
NM_001267550.2(TTN):c.80530del (p.Ser26844fs)
|
rs2154164929
|
|
|
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter)
|
rs2154161716
|
|
|
NM_001267550.2(TTN):c.85809del (p.Lys28603fs)
|
rs796983799
|
|
|
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter)
|
rs200503016
|
|
|
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del)
|
rs748912340
|
|
|
NM_001267550.2(TTN):c.92569_92570del (p.Ile30857fs)
|
rs2154147864
|
|
|
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=)
|
rs572401798
|
|
|
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=)
|
rs375361462
|
|
|
NM_001267550.2(TTN):c.98990-1G>T
|
rs796111471
|
|
|
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)
|
rs397517781
|
|
|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
|
rs74315379
|
|
|
NM_001276345.2(TNNT2):c.68-3C>T
|
rs587780970
|
|
|
NM_001276345.2(TNNT2):c.68-5del
|
rs2102295381
|
|
|
NM_001276345.2(TNNT2):c.844C>T (p.Gln282Ter)
|
rs796925245
|
|
|
NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile)
|
rs12537531
|
|
|
NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=)
|
rs56333627
|
|
|
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys)
|
rs1554308513
|
|
|
NM_001278064.2(GRM1):c.950+8TC[14]
|
rs72225459
|
|
|
NM_001278064.2(GRM1):c.950+8TC[18]
|
rs72225459
|
|
|
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val)
|
rs200930463
|
|
|
NM_001291415.2(KDM6A):c.2859-5del
|
rs10605935
|
|
|
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup)
|
rs797044622
|
|
|
NM_001292034.3(TAB2):c.899C>A (p.Ser300Ter)
|
rs2114885719
|
|
|
NM_001330078.2(NRXN1):c.772+1128_772+1129del
|
rs1558610072
|
|
|
NM_001332.4(CTNND2):c.1480G>A (p.Gly494Ser)
|
rs34001856
|
|
|
NM_001348716.2(KDM6B):c.2253CAC[10] (p.Thr762del)
|
rs59627144
|
|
|
NM_001348716.2(KDM6B):c.2253CAC[8] (p.Thr760_Thr762del)
|
rs59627144
|
|
|
NM_001348716.2(KDM6B):c.753ACC[10] (p.Pro262_Pro264del)
|
rs61462443
|
|
|
NM_001352514.2(HLCS):c.1620+7del
|
rs140568778
|
|
|
NM_001354712.2(THRB):c.22+4T>A
|
rs1031696535
|
|
|
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)
|
rs796052231
|
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
|
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)
|
rs782576893
|
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
|
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)
|
rs567500345
|
|
|
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter)
|
rs121908428
|
|
|
NM_001370259.2(MEN1):c.784-19TC[2]
|
rs764290037
|
|
|
NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del)
|
rs754444655
|
|
|
NM_001374828.1(ARID1B):c.1170CGG[10] (p.Gly402_Ser403insGlyGly)
|
rs587779747
|
|
|
NM_001374828.1(ARID1B):c.1194AGG[3] (p.Gly402del)
|
rs587779748
|
|
|
NM_001374828.1(ARID1B):c.1211GAG[7] (p.Gly411del)
|
rs747790383
|
|
|
NM_001374828.1(ARID1B):c.1211GAG[9] (p.Gly411_Ala412insGly)
|
rs747790383
|
|
|
NM_001374828.1(ARID1B):c.373GCGGCGGCA[1] (p.Ala128_Ala130del)
|
rs769480864
|
|
|
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)
|
rs797045282
|
|
|
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln214_His215insGlnGln)
|
rs587779743
|
|
|
NM_001376.5(DYNC1H1):c.962-15dup
|
rs3830914
|
|
|
NM_001378414.1(HDAC4):c.2750+20A>C
|
rs151192501
|
|
|
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)
|
rs55889738
|
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
|
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])
|
rs78227997
|
|
|
NM_001384732.1(CPLANE1):c.8633-3del
|
rs34646696
|
|
|
NM_001386393.1(PANK2):c.1083-13dup
|
rs199905730
|
|
|
NM_001386795.1(DTNA):c.1744-10G>T
|
rs192561043
|
|
|
NM_001388492.1(HTT):c.54GCA[26] (p.Gln32_Gln38dup)
|
rs71180116
|
|
|
NM_001388492.1(HTT):c.58_110= (p.Gln20_Gln37=)
|
rs71180116
|
|
|
NM_001394062.1(MACF1):c.21064G>A (p.Ala7022Thr)
|
rs142006710
|
|
|
NM_001429.4(EP300):c.3671+1G>A
|
rs2059103511
|
|
|
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
|
rs1057517732
|
|
|
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)
|
rs587778256
|
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
|
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del)
|
rs756196843
|
|
|
NM_001458.5(FLNC):c.1813+2T>C
|
rs113483303
|
|
|
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter)
|
rs770606675
|
|
|
NM_001458.5(FLNC):c.4456+1G>A
|
rs1318885805
|
|
|
NM_001643.2(APOA2):c.53-43TG[20]
|
rs17244502
|
|
|
NM_001643.2(APOA2):c.53-43TG[21]
|
rs17244502
|
|
|
NM_001807.6(CEL):c.1834G>C (p.Ala612Pro)
|
rs1322454680
|
|
|
NM_001846.4(COL4A2):c.3563-4G>C
|
rs562701263
|
|
|
NM_001854.4(COL11A1):c.652-6del
|
rs36076089
|
|
|
NM_001875.5(CPS1):c.-4_-3insTTC
|
rs61509952
|
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
|
NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del)
|
rs60216939
|
|
|
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del)
|
rs60216939
|
|
|
NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup)
|
rs60216939
|
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
|
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)
|
rs138726443
|
|
|
NM_002047.4(GARS1):c.47TGC[4] (p.Leu20del)
|
rs150213018
|
|
|
NM_002072.5(GNAQ):c.736-18_736-17dup
|
rs5898555
|
|
|
NM_002076.4(GNS):c.253-10del
|
rs201654719
|
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
|
NM_002294.3(LAMP2):c.-4G>C
|
rs200297370
|
|
|
NM_002294.3(LAMP2):c.865-8del
|
rs746330494
|
|
|
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn)
|
rs1805094
|
|
|
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr)
|
rs121908670
|
|
|
NM_002354.3(EPCAM):c.267G>C (p.Gln89His)
|
rs146480420
|
|
|
NM_002470.4(MYH3):c.1960-8del
|
rs3216884
|
|
|
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln)
|
rs145785711
|
|
|
NM_002471.4(MYH6):c.2702A>G (p.Asn901Ser)
|
rs1891315952
|
|
|
NM_002471.4(MYH6):c.3343-3del
|
rs1027186100
|
|
|
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=)
|
rs149369904
|
|
|
NM_002471.4(MYH6):c.3979-11C>G
|
rs200618133
|
|
|
NM_002471.4(MYH6):c.3979-14C>A
|
rs372226248
|
|
|
NM_002471.4(MYH6):c.3979-14C>G
|
rs372226248
|
|
|
NM_002471.4(MYH6):c.3979-7T>C
|
rs535111647
|
|
|
NM_002471.4(MYH6):c.3979-7_3979-5del
|
rs397516764
|
|
|
NM_002471.4(MYH6):c.3979-8dup
|
rs193922652
|
|
|
NM_002471.4(MYH6):c.3979-9C>A
|
rs57660219
|
|
|
NM_002471.4(MYH6):c.3979-9C>G
|
rs57660219
|
|
|
NM_002471.4(MYH6):c.4026C>T (p.Cys1342=)
|
rs141062252
|
|
|
NM_002471.4(MYH6):c.4360-7C>T
|
rs58949384
|
|
|
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.126GCA[6] (p.Gln51_Gln55del)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
|
NM_002693.3(POLG):c.856-17CTC[4]
|
rs200056162
|
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
|
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)
|
rs1471641294
|
|
|
NM_002745.5(MAPK1):c.5CGG[7] (p.Ala7dup)
|
rs751880548
|
|
|
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)
|
rs397507543
|
|
|
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup)
|
rs113614842
|
|
|
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del)
|
rs113614842
|
|
|
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly)
|
rs1555475415
|
|
|
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser)
|
rs1553177290
|
|
|
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln238_Pro239insGlnGln)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.669GCA[8] (p.Gln234_Gln238del)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro)
|
rs751906633
|
|
|
NM_003072.5(SMARCA4):c.4170+17C>T
|
rs145829956
|
|
|
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[3] (p.347SGSS[3])
|
rs751221446
|
|
|
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)
|
rs267607085
|
|
|
NM_003126.4(SPTA1):c.6549-12G>A
|
rs857716
|
|
|
NM_003194.5(TBP):c.226_227insCAA (p.Gln76delinsProLys)
|
rs1779151861
|
|
|
NM_003221.4(TFAP2B):c.540+7ACAA[7]
|
rs368226832
|
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
|
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe)
|
rs3775291
|
|
|
NM_003289.4(TPM2):c.773-3dup
|
rs35401252
|
|
|
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)
|
rs748325646
|
|
|
NM_003413.4(ZIC3):c.135CGC[6] (p.Ala53_Ala55del)
|
rs748325646
|
|
|
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup)
|
rs398123707
|
|
|
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)
|
rs143711798
|
|
|
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
|
rs587780563
|
|
|
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
|
rs137853022
|
|
|
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs)
|
rs141354030
|
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
|
NM_003737.4(DCHS1):c.76CTG[7] (p.Leu33del)
|
rs72555381
|
|
|
NM_004006.3(DMD):c.*23_*35del
|
rs752332058
|
|
|
NM_004006.3(DMD):c.3603+3_3603+4dup
|
rs5902031
|
|
|
NM_004006.3(DMD):c.3603+3dup
|
rs5902031
|
|
|
NM_004006.3(DMD):c.923C>T (p.Thr308Ile)
|
rs145064612
|
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
|
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs)
|
rs112307877
|
|
|
NM_004168.4(SDHA):c.1974G>C (p.Pro658=)
|
rs1042446
|
|
|
NM_004168.4(SDHA):c.622-13del
|
rs3835068
|
|
|
NM_004183.4(BEST1):c.715-18TCC[8]
|
rs1805182
|
|
|
NM_004187.5(KDM5C):c.2517-9_2517-7dup
|
rs398124111
|
|
|
NM_004260.4(RECQL4):c.2463+18_2463+19del
|
rs71320828
|
|
|
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln)
|
rs35434411
|
|
|
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup)
|
rs139438727
|
|
|
NM_004316.4(ASCL1):c.151CAG[13] (p.Gln62_Ala63insGln)
|
rs3832799
|
|
|
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln)
|
rs3832799
|
|
|
NM_004316.4(ASCL1):c.151CAG[9] (p.Gln60_Gln62del)
|
rs3832799
|
|
|
NM_004366.6(CLCN2):c.1929CCG[3] (p.Arg646dup)
|
rs545787624
|
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
|
NM_004380.3(CREBBP):c.3370-16dup
|
rs75459669
|
|
|
NM_004415.4(DSP):c.1670_1671del (p.Ile557fs)
|
rs2113677479
|
|
|
NM_004415.4(DSP):c.2436+16A>G
|
rs199555263
|
|
|
NM_004415.4(DSP):c.2437-11del
|
rs727502998
|
|
|
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)
|
rs746877365
|
|
|
NM_004415.4(DSP):c.423-9dup
|
rs1554105896
|
|
|
NM_004415.4(DSP):c.4608_4612del (p.Arg1537fs)
|
rs796620239
|
|
|
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter)
|
rs777573018
|
|
|
NM_004415.4(DSP):c.81C>A (p.Arg27=)
|
rs773559423
|
|
|
NM_004456.5(EZH2):c.118-4del
|
rs3214332
|
|
|
NM_004477.3(FRG1):c.630-4A>G
|
rs78181874
|
|
|
NM_004484.4(GPC3):c.1033-4250del
|
rs372010975
|
|
|
NM_004517.4(ILK):c.448+9=
|
|
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
|
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)
|
rs118192251
|
|
|
NM_004525.3(LRP2):c.8699-8C>T
|
rs145301652
|
|
|
NM_004577.4(PSPH):c.275+1del
|
rs139106189
|
|
|
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg)
|
rs34982899
|
|
|
NM_004655.4(AXIN2):c.2124G>C (p.Ser708=)
|
rs143243661
|
|
|
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)
|
rs730882249
|
|
|
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup)
|
rs770515802
|
|
|
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup)
|
rs72550890
|
|
|
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del)
|
rs397517043
|
|
|
NM_005006.7(NDUFS1):c.154-9del
|
rs568965659
|
|
|
NM_005097.4(LGI1):c.432-6_432-5dup
|
rs61662431
|
|
|
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)
|
rs398124200
|
|
|
NM_005121.3(MED13):c.3676C>G (p.Arg1226Gly)
|
rs367927155
|
|
|
NM_005159.5(ACTC1):c.129+18dup
|
rs148433308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[20]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
|
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup)
|
rs373212940
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup)
|
rs3075570
|
|
|
NM_005263.5(GFI1):c.925-40CT[13]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[19]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[22]
|
rs35896485
|
|
|
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)
|
rs121909305
|
|
|
NM_005445.4(SMC3):c.548-5_548-4dup
|
rs199906378
|
|
|
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His)
|
rs1057519275
|
|
|
NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn)
|
rs1060500107
|
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
|
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)
|
rs397517172
|
|
|
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)
|
rs112180170
|
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
|
NM_005989.4(AKR1D1):c.379-4del
|
rs35402657
|
|
|
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu)
|
rs1565627304
|
|
|
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup)
|
rs374564889
|
|
|
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln)
|
rs41303631
|
|
|
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup)
|
rs587784306
|
|
|
NM_006031.6(PCNT):c.533A>C (p.Gln178Pro)
|
rs200285580
|
|
|
NM_006059.4(LAMC3):c.3070-18dup
|
rs34910694
|
|
|
NM_006079.5(CITED2):c.114CCA[1] (p.His39del)
|
rs749590293
|
|
|
NM_006231.4(POLE):c.2865-4del
|
rs369732588
|
|
|
NM_006231.4(POLE):c.4952+17_4952+19dup
|
rs571641918
|
|
|
NM_006236.3(POU3F3):c.1303_1305del (p.Glu435del)
|
rs2466876904
|
|
|
NM_006393.3(NEBL):c.2519-2del
|
rs754453916
|
|
|
NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser)
|
rs192869629
|
|
|
NM_006440.5(TXNRD2):c.64G>A (p.Val22Met)
|
rs370819229
|
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
|
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
|
rs1064795331
|
|
|
NM_006828.4(ASCC3):c.1396-3del
|
rs11345864
|
|
|
NM_006846.4(SPINK5):c.2088TGG[2] (p.Gly701del)
|
rs111662216
|
|
|
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
|
rs2547813307
|
|
|
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)
|
rs1565669640
|
|
|
NM_007078.3(LDB3):c.465C>T (p.Leu155=)
|
rs45516997
|
|
|
NM_007078.3(LDB3):c.896+6669TC[11]
|
rs71019410
|
|
|
NM_007078.3(LDB3):c.896+6694del
|
rs796095449
|
|
|
NM_007078.3(LDB3):c.94-20C>T
|
rs779928559
|
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
rs1554065887
|
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
|
NM_007294.4(BRCA1):c.134+3A>C
|
rs80358064
|
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
|
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn)
|
rs28897681
|
|
|
NM_007294.4(BRCA1):c.302-3C>G
|
rs80358051
|
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
|
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)
|
rs80356923
|
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
|
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)
|
rs80357572
|
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
|
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)
|
rs80357389
|
|
|
NM_007294.4(BRCA1):c.5074+3A>G
|
rs80358181
|
|
|
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)
|
rs80356993
|
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
|
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)
|
rs80357227
|
|
|
NM_007294.4(BRCA1):c.5406+5G>A
|
rs80358073
|
|
|
NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)
|
rs80357212
|
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
|
NM_007294.4(BRCA1):c.81-14C>T
|
rs80358006
|
|
|
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu)
|
rs80357244
|
|
|
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His)
|
rs34316445
|
|
|
NM_012200.4(B3GAT3):c.909+262del
|
rs35002433
|
|
|
NM_012200.4(B3GAT3):c.909+270_909+271del
|
rs549953964
|
|
|
NM_012309.5(SHANK2):c.4280G>A (p.Arg1427Gln)
|
rs782253326
|
|
|
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del)
|
rs569172957
|
|
|
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del)
|
rs71929101
|
|
|
NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup)
|
rs71929101
|
|
|
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del)
|
rs375513122
|
|
|
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup)
|
rs375513122
|
|
|
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)
|
rs143509747
|
|
|
NM_013266.4(CTNNA3):c.1836G>A (p.Lys612=)
|
rs774209973
|
|
|
NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=)
|
rs150652124
|
|
|
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)
|
rs387906338
|
|
|
NM_014000.3(VCL):c.1294C>T (p.Leu432=)
|
rs144146254
|
|
|
NM_014000.3(VCL):c.622+4C>G
|
rs201020802
|
|
|
NM_014251.3(SLC25A13):c.1452+19del
|
rs749506606
|
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
|
NM_015046.7(SETX):c.6843-16dup
|
rs34769225
|
|
|
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)
|
rs2235967
|
|
|
NM_015450.3(POT1):c.1505+7TGTTT[5]
|
rs66826272
|
|
|
NM_015570.4(AUTS2):c.3377ACC[7] (p.His1133del)
|
rs538005366
|
|
|
NM_015570.4(AUTS2):c.3437G>T (p.Gly1146Val)
|
rs150926322
|
|
|
NM_015726.4(DCAF8):c.297AGAGGA[2] (p.Glu111_Glu112del)
|
rs745776382
|
|
|
NM_016203.4(PRKAG2):c.1106+10dup
|
rs374874465
|
|
|
NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter)
|
rs140704891
|
|
|
NM_017739.4(POMGNT1):c.630G>T (p.Trp210Cys)
|
rs386834033
|
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
|
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg)
|
rs1586393556
|
|
|
NM_018100.4(EFHC1):c.723+106C>T
|
rs190021570
|
|
|
NM_018122.5(DARS2):c.228-16C>G
|
rs778731200
|
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
|
NM_019040.5(ELP4):c.17C>T (p.Thr6Ile)
|
rs760224399
|
|
|
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)
|
rs10870182
|
|
|
NM_020061.6(OPN1LW):c.538= (p.Ala180=)
|
rs1557157655
|
|
|
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
|
rs746267545
|
|
|
NM_020297.4(ABCC9):c.1165-6del
|
rs35857705
|
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
|
NM_020297.4(ABCC9):c.1165-7_1165-6del
|
rs35857705
|
|
|
NM_020297.4(ABCC9):c.2644-11G>A
|
rs61926078
|
|
|
NM_020297.4(ABCC9):c.4450-6_4450-5del
|
rs4148680
|
|
|
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT
|
rs869025349
|
|
|
NM_020297.4(ABCC9):c.817-7del
|
rs193922684
|
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
|
NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr)
|
rs150028343
|
|
|
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs)
|
rs1450218521
|
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
|
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup)
|
rs56064803
|
|
|
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)
|
rs747975797
|
|
|
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del)
|
rs747975797
|
|
|
NM_021978.4(ST14):c.1224-6dup
|
rs11368852
|
|
|
NM_022089.4(ATP13A2):c.3235+44_3235+55del
|
rs143483351
|
|
|
NM_022114.4(PRDM16):c.-14C>A
|
rs180925565
|
|
|
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=)
|
rs372189819
|
|
|
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro)
|
rs371654192
|
|
|
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)
|
rs2066847
|
|
|
NM_022356.4(P3H1):c.2148= (p.Gly716=)
|
rs4660662
|
|
|
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys)
|
rs4148217
|
|
|
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser)
|
rs187262922
|
|
|
NM_024334.3(TMEM43):c.163-3del
|
rs371706980
|
|
|
NM_024334.3(TMEM43):c.512+19G>T
|
rs114026215
|
|
|
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile)
|
rs17024517
|
|
|
NM_024422.6(DSC2):c.1350A>G (p.Arg450=)
|
rs144242114
|
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
|
NM_024496.4(IRF2BPL):c.462CGC[11] (p.Ala163_Ala164dup)
|
rs371633333
|
|
|
NM_024496.4(IRF2BPL):c.462CGC[6] (p.Ala162_Ala164del)
|
rs371633333
|
|
|
NM_024496.4(IRF2BPL):c.462CGC[8] (p.Ala164del)
|
rs371633333
|
|
|
NM_024496.4(IRF2BPL):c.491_492insCGC (p.Ala164dup)
|
rs780441372
|
|
|
NM_024675.4(PALB2):c.1684+18TGA[9]
|
rs368593832
|
|
|
NM_025000.4(DCAF17):c.322-15dup
|
rs139655160
|
|
|
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr)
|
rs78870822
|
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
|
NM_025137.4(SPG11):c.6477+13del
|
rs574960359
|
|
|
NM_025216.3(WNT10A):c.831G>C (p.Trp277Cys)
|
rs1234227647
|
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
|
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del)
|
rs371983878
|
|
|
NM_030773.4(TUBB1):c.534T>G (p.Thr178=)
|
rs163777
|
|
|
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs)
|
rs565457964
|
|
|
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp)
|
rs1057520538
|
|
|
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp)
|
rs41303352
|
|
|
NM_032427.4(MAML2):c.1782GCA[12] (p.Gln621del)
|
rs60727839
|
|
|
NM_032578.4(MYPN):c.3075+5_3075+13del
|
rs864622652
|
|
|
NM_032801.5(JAM3):c.410-14_410-13insCT
|
rs3216140
|
|
|
NM_033028.5(BBS4):c.1482C>A (p.Pro494=)
|
rs2151058298
|
|
|
NM_033305.3(VPS13A):c.385+6_385+15del
|
rs72275336
|
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[10]
|
rs113052866
|
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[6]
|
rs113052866
|
|
|
NM_052813.5(CARD9):c.1434+1G>C
|
rs141992399
|
|
|
NM_058216.3(RAD51C):c.561_562del (p.His187fs)
|
rs1057517812
|
|
|
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
|
rs587784527
|
|
|
NM_133378.4(TTN):c.26780-19dup
|
rs397517532
|
|
|
NM_133379.5(TTN):c.15313C>A (p.Arg5105=)
|
rs376396183
|
|
|
NM_133433.4(NIPBL):c.1495+8_1495+10del
|
rs398124464
|
|
|
NM_138638.5(CFL2):c.312-7del
|
rs35515423
|
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
|
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)
|
rs398124508
|
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
|
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del)
|
rs397517848
|
|
|
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)
|
rs531550505
|
|
|
NM_144687.4(NLRP12):c.2927+4_2927+5dup
|
rs763190690
|
|
|
NM_144969.3(ZDHHC15):c.380-5del
|
rs751518520
|
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
|
NM_152468.5(TMC8):c.*5T>G
|
rs369764
|
|
|
NM_152468.5(TMC8):c.988-4G>A
|
rs62079073
|
|
|
NM_152558.5(IQCE):c.895_904del (p.Val301fs)
|
rs773701437
|
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
|
NM_170606.3(KMT2C):c.8390dup (p.Glu2798fs)
|
rs747256476
|
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
|
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del)
|
rs267607540
|
|
|
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=)
|
rs1801545
|
|
|
NM_172362.3(KCNH1):c.80-19dup
|
rs56223346
|
|
|
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg)
|
rs201454653
|
|
|
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu)
|
rs778849441
|
|
|
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
|
rs11583680
|
|
|
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)
|
rs35574083
|
|
|
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
|
rs4240659
|
|
|
NM_181332.3(NLGN4X):c.301C>T (p.Arg101Ter)
|
rs756651509
|
|
|
NM_182895.5(SCARF2):c.2240dup (p.Gly749fs)
|
rs5844420
|
|
|
NM_182895.5(SCARF2):c.2292dup (p.Glu765fs)
|
rs5844418
|
|
|
NM_182916.3(TRNT1):c.810_811insAAACTT (p.Pro270_Ala271insLysLeu)
|
rs527331900
|
|
|
NM_182961.4(SYNE1):c.16896+11dup
|
rs545568394
|
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
|
NM_182978.4(GNAL):c.266_283dup (p.Ala89_Ala94dup)
|
rs750891634
|
|
|
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr)
|
rs796065306
|
|
|
NM_198428.3(BBS9):c.1468del (p.Tyr490fs)
|
rs1454474832
|
|
|
NM_201384.3(PLEC):c.13479G>A (p.Ser4493=)
|
rs781929758
|
|
|
NM_201384.3(PLEC):c.378T>G (p.Ala126=)
|
rs6993938
|
|
|
NM_213599.3(ANO5):c.2236-10del
|
rs72105710
|
|
|
NM_213599.3(ANO5):c.295-8dup
|
rs778435515
|
|
|
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)
|
rs7481951
|
|