|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16948
|
|
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)
|
rs152451
|
0.12980
|
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08157
|
|
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)
|
rs10254120
|
0.07451
|
|
NM_002691.4(POLD1):c.1539G>A (p.Leu513=)
|
rs2230246
|
0.04513
|
|
NM_002691.4(POLD1):c.1548C>T (p.Ala516=)
|
rs2230247
|
0.04204
|
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03738
|
|
NM_002691.4(POLD1):c.1173C>T (p.Asp391=)
|
rs2230244
|
0.02764
|
|
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)
|
rs45516100
|
0.02529
|
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
|
NM_000535.7(PMS2):c.1488C>T (p.His496=)
|
rs1805320
|
0.02307
|
|
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
|
rs2228007
|
0.02174
|
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
|
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)
|
rs57605939
|
0.02101
|
|
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg)
|
rs2228456
|
0.01986
|
|
NM_000251.3(MSH2):c.573C>T (p.Leu191=)
|
rs1800151
|
0.01972
|
|
NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01935
|
|
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)
|
rs45551636
|
0.01717
|
|
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)
|
rs4987188
|
0.01714
|
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01574
|
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
|
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)
|
rs28997576
|
0.01443
|
|
NM_000251.3(MSH2):c.1077-10T>C
|
rs17224360
|
0.01428
|
|
NM_000321.3(RB1):c.2212-16T>A
|
rs201258424
|
0.01386
|
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01316
|
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
|
NM_000179.3(MSH6):c.1164C>T (p.His388=)
|
rs55708305
|
0.01297
|
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01274
|
|
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01214
|
|
NM_000249.4(MLH1):c.474C>T (p.Asn158=)
|
rs4647256
|
0.01161
|
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
|
NM_000251.3(MSH2):c.2766T>C (p.Phe922=)
|
rs55859129
|
0.01118
|
|
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)
|
rs28363284
|
0.01092
|
|
NM_002691.4(POLD1):c.849G>T (p.Gln283His)
|
rs113282414
|
0.01085
|
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
|
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)
|
rs6972869
|
0.00992
|
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00944
|
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00891
|
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
|
NM_024675.4(PALB2):c.925A>G (p.Ile309Val)
|
rs3809683
|
0.00860
|
|
NM_000249.4(MLH1):c.637G>A (p.Val213Met)
|
rs2308317
|
0.00818
|
|
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser)
|
rs5744760
|
0.00805
|
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
|
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)
|
rs61754118
|
0.00745
|
|
NM_000245.4(MET):c.1085T>C (p.Met362Thr)
|
rs77523018
|
0.00742
|
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00731
|
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
|
NM_006361.6(HOXB13):c.330C>A (p.Pro110=)
|
rs33993186
|
0.00691
|
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
|
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00668
|
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
|
NM_000143.4(FH):c.53C>T (p.Pro18Leu)
|
rs201887750
|
0.00597
|
|
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
|
rs187964306
|
0.00596
|
|
NM_000455.5(STK11):c.369G>A (p.Gln123=)
|
rs140112347
|
0.00584
|
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00554
|
|
NM_000249.4(MLH1):c.589-15C>T
|
rs55658850
|
0.00548
|
|
NM_000057.4(BLM):c.2075-12G>T
|
rs28385027
|
0.00541
|
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00514
|
|
NM_058216.3(RAD51C):c.572-17G>T
|
rs193023469
|
0.00513
|
|
NM_000251.3(MSH2):c.984C>T (p.Ala328=)
|
rs4987189
|
0.00495
|
|
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)
|
rs111536363
|
0.00480
|
|
NM_006231.4(POLE):c.1359+9G>A
|
rs75135381
|
0.00461
|
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00449
|
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
|
NM_000321.3(RB1):c.862-15C>A
|
rs115108608
|
0.00442
|
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
|
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln)
|
rs28363283
|
0.00423
|
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00393
|
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00393
|
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00393
|
|
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)
|
rs2229035
|
0.00388
|
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00387
|
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00380
|
|
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met)
|
rs35448940
|
0.00377
|
|
NM_004656.4(BAP1):c.783G>A (p.Gln261=)
|
rs35003777
|
0.00377
|
|
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)
|
rs115052399
|
0.00370
|
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
|
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_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00346
|
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00340
|
|
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)
|
rs72541816
|
0.00335
|
|
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)
|
rs138049175
|
0.00333
|
|
NM_000245.4(MET):c.-14-4G>A
|
rs144126521
|
0.00331
|
|
NM_058216.3(RAD51C):c.186A>G (p.Gln62=)
|
rs28363303
|
0.00322
|
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
|
NM_024675.4(PALB2):c.1572A>G (p.Ser524=)
|
rs45472400
|
0.00312
|
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
|
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)
|
rs62625275
|
0.00309
|
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00299
|
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00297
|
|
NM_006231.4(POLE):c.846C>T (p.Pro282=)
|
rs5744758
|
0.00291
|
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
|
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)
|
rs150140386
|
0.00280
|
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
|
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)
|
rs35741240
|
0.00261
|
|
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=)
|
rs55992440
|
0.00257
|
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
|
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)
|
rs80207011
|
0.00250
|
|
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys)
|
rs116150891
|
0.00248
|
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
|
NM_004656.4(BAP1):c.960C>T (p.Cys320=)
|
rs143659795
|
0.00219
|
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
|
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)
|
rs34969857
|
0.00212
|
|
NM_000441.2(SLC26A4):c.-103T>C
|
rs60284988
|
0.00209
|
|
NM_000455.5(STK11):c.464+9G>A
|
rs376313955
|
0.00208
|
|
NM_002878.4(RAD51D):c.771C>T (p.Ser257=)
|
rs146212490
|
0.00206
|
|
NM_005359.6(SMAD4):c.1140-10T>C
|
rs186332162
|
0.00205
|
|
NM_024675.4(PALB2):c.1810C>T (p.Leu604=)
|
rs144015319
|
0.00202
|
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
|
NM_024675.4(PALB2):c.1606C>T (p.Leu536=)
|
rs151162255
|
0.00193
|
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00190
|
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00188
|
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00184
|
|
NM_024675.4(PALB2):c.2256A>G (p.Gly752=)
|
rs147120218
|
0.00184
|
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
|
NM_000535.7(PMS2):c.23+10G>C
|
rs192027828
|
0.00182
|
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00182
|
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
|
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
|
NM_006231.4(POLE):c.1323G>A (p.Pro441=)
|
rs116573514
|
0.00174
|
|
NM_002878.4(RAD51D):c.481-7G>A
|
rs145832514
|
0.00171
|
|
NM_004655.4(AXIN2):c.1713-18G>A
|
rs147664289
|
0.00169
|
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00167
|
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00166
|
|
NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys)
|
rs115109161
|
0.00166
|
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00164
|
|
NM_000038.6(APC):c.120G>A (p.Glu40=)
|
rs142720069
|
0.00161
|
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
rs139555085
|
0.00160
|
|
NM_000251.3(MSH2):c.1277-8T>C
|
rs145400590
|
0.00159
|
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00154
|
|
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)
|
rs112414873
|
0.00153
|
|
NM_002691.4(POLD1):c.971-4G>A
|
rs200144991
|
0.00152
|
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00149
|
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
|
NM_004360.5(CDH1):c.1272C>T (p.Val424=)
|
rs61756284
|
0.00143
|
|
NM_024675.4(PALB2):c.2742C>T (p.Phe914=)
|
rs115759702
|
0.00143
|
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00136
|
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
|
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)
|
rs143002265
|
0.00133
|
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00131
|
|
NM_002878.4(RAD51D):c.666A>G (p.Glu222=)
|
rs114012742
|
0.00131
|
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00128
|
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00127
|
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00126
|
|
NM_000455.5(STK11):c.598-8C>T
|
rs373610101
|
0.00123
|
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
|
NR_003051.4(RMRP):n.72A>G
|
rs199476103
|
0.00123
|
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
|
NM_004168.4(SDHA):c.1368G>A (p.Ser456=)
|
rs149875171
|
0.00117
|
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00116
|
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00116
|
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
|
NM_000143.4(FH):c.-11C>T
|
rs200942733
|
0.00113
|
|
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)
|
rs138287857
|
0.00112
|
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
|
NM_001370259.2(MEN1):c.30G>T (p.Leu10=)
|
rs371192390
|
0.00111
|
|
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)
|
rs45439097
|
0.00109
|
|
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr)
|
rs45490792
|
0.00108
|
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00107
|
|
NM_000077.5(CDKN2A):c.-2G>A
|
rs191394143
|
0.00105
|
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
|
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)
|
rs140743238
|
0.00104
|
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
|
NM_000179.3(MSH6):c.984C>T (p.Ser328=)
|
rs138143769
|
0.00101
|
|
NM_000251.3(MSH2):c.942+2T>A
|
rs587779195
|
0.00101
|
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00101
|
|
NM_000535.7(PMS2):c.353+9A>C
|
rs139990791
|
0.00100
|
|
NM_002691.4(POLD1):c.1620C>T (p.Gly540=)
|
rs140216790
|
0.00098
|
|
NM_024675.4(PALB2):c.2365C>T (p.Leu789=)
|
rs145805054
|
0.00098
|
|
NM_024675.4(PALB2):c.909C>T (p.Leu303=)
|
rs145788619
|
0.00098
|
|
NM_000038.6(APC):c.2262T>G (p.Val754=)
|
rs148987776
|
0.00096
|
|
NM_006231.4(POLE):c.1360-6C>T
|
rs139836643
|
0.00096
|
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
|
NM_000251.3(MSH2):c.819A>G (p.Val273=)
|
rs146577635
|
0.00094
|
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00094
|
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00094
|
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00092
|
|
NM_000038.6(APC):c.1825G>A (p.Val609Ile)
|
rs147863331
|
0.00090
|
|
NM_006231.4(POLE):c.1347G>A (p.Thr449=)
|
rs142373951
|
0.00090
|
|
NM_002691.4(POLD1):c.971-19G>A
|
rs56022846
|
0.00089
|
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
|
NM_000546.6(TP53):c.994-17C>T
|
rs368691910
|
0.00087
|
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00085
|
|
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)
|
rs200313585
|
0.00085
|
|
NM_000465.4(BARD1):c.90T>A (p.Gly30=)
|
rs150354152
|
0.00084
|
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00083
|
|
NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00081
|
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
|
NM_144997.7(FLCN):c.1414C>G (p.Pro472Ala)
|
rs151312899
|
0.00080
|
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
|
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)
|
rs147196739
|
0.00076
|
|
NM_032043.3(BRIP1):c.195A>G (p.Gln65=)
|
rs141436143
|
0.00076
|
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
|
NM_004168.4(SDHA):c.1002G>A (p.Ala334=)
|
rs144252500
|
0.00073
|
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
|
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)
|
rs75870842
|
0.00071
|
|
NM_058216.3(RAD51C):c.146-8A>G
|
rs201079501
|
0.00071
|
|
NM_000368.5(TSC1):c.273G>A (p.Ser91=)
|
rs115097221
|
0.00070
|
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00070
|
|
NM_000551.4(VHL):c.150C>G (p.Ala50=)
|
rs61751580
|
0.00070
|
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
|
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln)
|
rs143483053
|
0.00069
|
|
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)
|
rs200074800
|
0.00068
|
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
|
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00068
|
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00068
|
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00068
|
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
|
NM_000551.4(VHL):c.183C>G (p.Pro61=)
|
rs63650860
|
0.00067
|
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00066
|
|
NM_000249.4(MLH1):c.375A>G (p.Ala125=)
|
rs1800144
|
0.00065
|
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00065
|
|
NM_004655.4(AXIN2):c.1545C>T (p.His515=)
|
rs139316692
|
0.00065
|
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
|
NM_000249.4(MLH1):c.2104-11G>A
|
rs147984696
|
0.00064
|
|
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln)
|
rs118203543
|
0.00064
|
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00064
|
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00063
|
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
|
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu)
|
rs148527903
|
0.00063
|
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00063
|
|
NM_000249.4(MLH1):c.1039-7_1040del
|
rs1559551447
|
0.00061
|
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00059
|
|
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)
|
rs186924074
|
0.00058
|
|
NM_000179.3(MSH6):c.1869C>T (p.Pro623=)
|
rs141242295
|
0.00058
|
|
NM_002691.4(POLD1):c.1665C>T (p.Val555=)
|
rs150238541
|
0.00058
|
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00058
|
|
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
|
rs149127230
|
0.00058
|
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00057
|
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
|
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)
|
rs143696882
|
0.00057
|
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
0.00056
|
|
NM_002691.4(POLD1):c.1138-8A>G
|
rs41544624
|
0.00056
|
|
NM_004656.4(BAP1):c.294C>T (p.Ser98=)
|
rs140641333
|
0.00056
|
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00056
|
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
|
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)
|
rs121964904
|
0.00055
|
|
NM_000128.4(F11):c.809A>T (p.Lys270Ile)
|
rs121965070
|
0.00055
|
|
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)
|
rs9378251
|
0.00055
|
|
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)
|
rs116952709
|
0.00055
|
|
NM_000038.6(APC):c.2476T>G (p.Leu826Val)
|
rs145245264
|
0.00054
|
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00054
|
|
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met)
|
rs139779505
|
0.00054
|
|
NM_007194.4(CHEK2):c.793-11G>A
|
rs5997387
|
0.00054
|
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
|
NM_000245.4(MET):c.3523-12C>G
|
rs186524917
|
0.00053
|
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
|
NM_000455.5(STK11):c.426C>T (p.Ser142=)
|
rs758448869
|
0.00053
|
|
NM_024675.4(PALB2):c.2749-18C>T
|
rs182194007
|
0.00053
|
|
NM_144997.7(FLCN):c.1269C>T (p.His423=)
|
rs41464156
|
0.00053
|
|
NM_004656.4(BAP1):c.501G>A (p.Ala167=)
|
rs148631953
|
0.00052
|
|
NM_000143.4(FH):c.77C>T (p.Pro26Leu)
|
rs187226800
|
0.00051
|
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00050
|
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00050
|
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00050
|
|
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)
|
rs150390726
|
0.00049
|
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
0.00048
|
|
NM_000038.6(APC):c.3739G>A (p.Ala1247Thr)
|
rs148223181
|
0.00048
|
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00048
|
|
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)
|
rs115670442
|
0.00048
|
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00047
|
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00047
|
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00047
|
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
|
NM_058216.3(RAD51C):c.706-18T>C
|
rs56401264
|
0.00047
|
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00046
|
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
|
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu)
|
rs137854214
|
0.00046
|
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
|
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=)
|
rs4987127
|
0.00045
|
|
NM_000179.3(MSH6):c.491A>C (p.His164Pro)
|
rs146469162
|
0.00045
|
|
NM_004360.5(CDH1):c.1744C>T (p.Leu582=)
|
rs1801025
|
0.00045
|
|
NM_000249.4(MLH1):c.1410-10T>G
|
rs372053184
|
0.00044
|
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00043
|
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00043
|
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
|
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=)
|
rs373425206
|
0.00042
|
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00042
|
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00042
|
|
NM_004360.5(CDH1):c.1138-3C>T
|
rs36103202
|
0.00042
|
|
NM_000038.6(APC):c.2322C>T (p.Asp774=)
|
rs145792879
|
0.00041
|
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
|
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)
|
rs377598226
|
0.00041
|
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
|
NM_000548.5(TSC2):c.2296G>A (p.Val766Met)
|
rs150672640
|
0.00041
|
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
|
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=)
|
rs36074916
|
0.00041
|
|
NM_004656.4(BAP1):c.905C>T (p.Pro302Leu)
|
rs149158790
|
0.00041
|
|
NM_000038.6(APC):c.2805C>T (p.Tyr935=)
|
rs137854575
|
0.00040
|
|
NM_000249.4(MLH1):c.198C>T (p.Thr66=)
|
rs61751642
|
0.00040
|
|
NM_000368.5(TSC1):c.1773G>A (p.Pro591=)
|
rs146578402
|
0.00040
|
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
|
NM_000368.5(TSC1):c.2505C>T (p.Leu835=)
|
rs112384441
|
0.00039
|
|
NM_000465.4(BARD1):c.348T>C (p.His116=)
|
rs139934362
|
0.00039
|
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
|
NM_001370259.2(MEN1):c.18C>T (p.Ala6=)
|
rs369348210
|
0.00039
|
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
|
NM_000038.6(APC):c.2847G>T (p.Met949Ile)
|
rs147394539
|
0.00038
|
|
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr)
|
rs138933660
|
0.00038
|
|
NM_000038.6(APC):c.5690A>C (p.His1897Pro)
|
rs112610898
|
0.00038
|
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00038
|
|
NM_002878.4(RAD51D):c.904-11T>A
|
rs374449943
|
0.00038
|
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00037
|
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00036
|
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
|
NM_000245.4(MET):c.901A>G (p.Thr301Ala)
|
rs201687037
|
0.00036
|
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
|
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
|
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)
|
rs118203357
|
0.00036
|
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00035
|
|
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
|
rs369097329
|
0.00035
|
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00035
|
|
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro)
|
rs200460601
|
0.00035
|
|
NM_002691.4(POLD1):c.945C>T (p.Phe315=)
|
rs150116169
|
0.00035
|
|
NM_004168.4(SDHA):c.622-8T>C
|
rs370714378
|
0.00035
|
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00035
|
|
NM_004656.4(BAP1):c.1035G>C (p.Gly345=)
|
rs369744075
|
0.00035
|
|
NM_144997.7(FLCN):c.619-20C>T
|
rs202217257
|
0.00035
|
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00034
|
|
NM_002691.4(POLD1):c.1092G>C (p.Leu364=)
|
rs139883454
|
0.00034
|
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00033
|
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
|
NM_000548.5(TSC2):c.2743-3C>A
|
rs45517264
|
0.00033
|
|
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=)
|
rs140487104
|
0.00033
|
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00033
|
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
0.00032
|
|
NM_000051.4(ATM):c.103C>A (p.Arg35=)
|
rs55861249
|
0.00032
|
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00032
|
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00032
|
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00032
|
|
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)
|
rs61761869
|
0.00032
|
|
NM_000548.5(TSC2):c.4850-19C>T
|
rs45517376
|
0.00032
|
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
|
NM_000038.6(APC):c.4905G>A (p.Gly1635=)
|
rs137988845
|
0.00031
|
|
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)
|
rs141010008
|
0.00031
|
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
|
NM_004656.4(BAP1):c.1962A>C (p.Val654=)
|
rs148624125
|
0.00031
|
|
NM_014625.4(NPHS2):c.610C>T (p.Leu204=)
|
rs199837664
|
0.00031
|
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
|
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)
|
rs149827260
|
0.00030
|
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00030
|
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00030
|
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00030
|
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00030
|
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00029
|
|
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00029
|
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00029
|
|
NM_000249.4(MLH1):c.1897-17C>G
|
rs2308316
|
0.00029
|
|
NM_000251.3(MSH2):c.471C>A (p.Gly157=)
|
rs61756463
|
0.00029
|
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
|
NM_000368.5(TSC1):c.2626-4T>C
|
rs777386691
|
0.00029
|
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
|
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val)
|
rs202187148
|
0.00029
|
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
|
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)
|
rs41554817
|
0.00029
|
|
NM_004168.4(SDHA):c.456+6G>T
|
rs371735891
|
0.00029
|
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00029
|
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00028
|
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00027
|
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00027
|
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00027
|
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00027
|
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
0.00027
|
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00027
|
|
NM_000546.6(TP53):c.173C>G (p.Pro58Arg)
|
rs144386518
|
0.00027
|
|
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=)
|
rs148690585
|
0.00027
|
|
NM_004656.4(BAP1):c.1330A>G (p.Thr444Ala)
|
rs374746213
|
0.00027
|
|
NM_005228.5(EGFR):c.2355C>T (p.Thr785=)
|
rs148188503
|
0.00027
|
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
|
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00027
|
|
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)
|
rs146115809
|
0.00026
|
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
|
NM_000548.5(TSC2):c.1120-17C>T
|
rs201704675
|
0.00026
|
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
|
NM_000548.5(TSC2):c.5068+9G>A
|
rs45445593
|
0.00026
|
|
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
0.00026
|
|
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)
|
rs141140415
|
0.00026
|
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00025
|
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00025
|
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
|
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)
|
rs45517295
|
0.00025
|
|
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val)
|
rs202068995
|
0.00025
|
|
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met)
|
rs397515318
|
0.00025
|
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00025
|
|
NM_004655.4(AXIN2):c.1059+8C>T
|
rs367595502
|
0.00025
|
|
NM_006231.4(POLE):c.1405C>T (p.Leu469=)
|
rs368303888
|
0.00025
|
|
NM_006361.6(HOXB13):c.602-9G>A
|
rs148901331
|
0.00025
|
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00025
|
|
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)
|
rs185057307
|
0.00025
|
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00024
|
|
NM_000251.3(MSH2):c.1277-16T>C
|
rs368653974
|
0.00024
|
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00024
|
|
NM_001370259.2(MEN1):c.-6G>A
|
rs768088337
|
0.00024
|
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00024
|
|
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=)
|
rs374360796
|
0.00024
|
|
NM_000038.6(APC):c.5274T>A (p.Ser1758=)
|
rs199600387
|
0.00023
|
|
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)
|
rs145741748
|
0.00023
|
|
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp)
|
rs118203723
|
0.00023
|
|
NM_000455.5(STK11):c.1194G>A (p.Ala398=)
|
rs184271025
|
0.00023
|
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00023
|
|
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)
|
rs146347092
|
0.00023
|
|
NM_002691.4(POLD1):c.885G>C (p.Val295=)
|
rs201946114
|
0.00023
|
|
NM_004360.5(CDH1):c.2412C>T (p.Pro804=)
|
rs202075199
|
0.00023
|
|
NM_004655.4(AXIN2):c.879A>G (p.Pro293=)
|
rs374479599
|
0.00023
|
|
NM_144997.7(FLCN):c.1326C>T (p.His442=)
|
rs145004158
|
0.00023
|
|
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)
|
rs146243469
|
0.00022
|
|
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)
|
rs201274041
|
0.00022
|
|
NM_000249.4(MLH1):c.307-19A>G
|
rs121909451
|
0.00022
|
|
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp)
|
rs118203483
|
0.00022
|
|
NM_000546.6(TP53):c.216C>T (p.Pro72=)
|
rs56275308
|
0.00022
|
|
NM_000548.5(TSC2):c.1443+4C>T
|
rs45517172
|
0.00022
|
|
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr)
|
rs397515223
|
0.00022
|
|
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu)
|
rs137920189
|
0.00022
|
|
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)
|
rs115817750
|
0.00022
|
|
NM_006361.6(HOXB13):c.411C>T (p.Tyr137=)
|
rs377339084
|
0.00022
|
|
NM_006361.6(HOXB13):c.567C>T (p.Asn189=)
|
rs143945091
|
0.00022
|
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
|
NC_000011.10:g.5227159G>A
|
rs33944208
|
0.00021
|
|
NM_000038.6(APC):c.1419G>A (p.Gln473=)
|
rs141579422
|
0.00021
|
|
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)
|
rs376494248
|
0.00021
|
|
NM_000143.4(FH):c.7C>G (p.Arg3Gly)
|
rs202166344
|
0.00021
|
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00021
|
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
|
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)
|
rs373257776
|
0.00021
|
|
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)
|
rs367890377
|
0.00021
|
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
|
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)
|
rs144165984
|
0.00021
|
|
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile)
|
rs138969595
|
0.00021
|
|
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
|
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)
|
rs587782484
|
0.00021
|
|
NM_004655.4(AXIN2):c.1368C>T (p.Gly456=)
|
rs372841853
|
0.00021
|
|
NM_004655.4(AXIN2):c.1491C>T (p.Cys497=)
|
rs150292240
|
0.00021
|
|
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser)
|
rs372586694
|
0.00021
|
|
NM_024675.4(PALB2):c.1281T>C (p.Ala427=)
|
rs138697796
|
0.00021
|
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
|
NM_000038.6(APC):c.3006C>T (p.Ala1002=)
|
rs72541810
|
0.00020
|
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00020
|
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00020
|
|
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn)
|
rs145629242
|
0.00020
|
|
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=)
|
rs373968155
|
0.00020
|
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00020
|
|
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)
|
rs75023630
|
0.00020
|
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00020
|
|
NM_144997.7(FLCN):c.246C>T (p.Cys82=)
|
rs150712346
|
0.00020
|
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
|
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu)
|
rs201629780
|
0.00019
|
|
NM_000038.6(APC):c.564A>G (p.Gln188=)
|
rs377493489
|
0.00019
|
|
NM_000038.6(APC):c.6510A>C (p.Pro2170=)
|
rs138571760
|
0.00019
|
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
|
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)
|
rs145812395
|
0.00019
|
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
|
NM_000075.4(CDK4):c.306A>G (p.Thr102=)
|
rs201202764
|
0.00019
|
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
|
NM_000249.4(MLH1):c.394G>C (p.Asp132His)
|
rs28930073
|
0.00019
|
|
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)
|
rs63750006
|
0.00019
|
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
|
NM_000251.3(MSH2):c.481G>A (p.Val161Ile)
|
rs149511545
|
0.00019
|
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
|
NM_000455.5(STK11):c.1296G>A (p.Gln432=)
|
rs587781179
|
0.00019
|
|
NM_000465.4(BARD1):c.57G>A (p.Glu19=)
|
rs730881406
|
0.00019
|
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00019
|
|
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)
|
rs35993958
|
0.00019
|
|
NM_000548.5(TSC2):c.251C>T (p.Ala84Val)
|
rs35660529
|
0.00019
|
|
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met)
|
rs147284943
|
0.00019
|
|
NM_000548.5(TSC2):c.4045G>A (p.Ala1349Thr)
|
rs146239734
|
0.00019
|
|
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln)
|
rs45506695
|
0.00019
|
|
NM_000551.4(VHL):c.341-6C>T
|
rs191201783
|
0.00019
|
|
NM_002878.4(RAD51D):c.196G>A (p.Val66Met)
|
rs56026142
|
0.00019
|
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00019
|
|
NM_004360.5(CDH1):c.1296C>T (p.Asn432=)
|
rs187862045
|
0.00019
|
|
NM_004656.4(BAP1):c.-10C>T
|
rs200018055
|
0.00019
|
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
|
NM_020975.6(RET):c.1529C>T (p.Ala510Val)
|
rs201745826
|
0.00019
|
|
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn)
|
rs200168437
|
0.00019
|
|
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)
|
rs377278397
|
0.00018
|
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
|
NM_000038.6(APC):c.6637A>G (p.Met2213Val)
|
rs186926737
|
0.00018
|
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00018
|
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
|
NM_000546.6(TP53):c.1014C>T (p.Phe338=)
|
rs150293825
|
0.00018
|
|
NM_000546.6(TP53):c.560-8G>C
|
rs373797299
|
0.00018
|
|
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)
|
rs145151284
|
0.00018
|
|
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)
|
rs45505895
|
0.00018
|
|
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=)
|
rs45487691
|
0.00018
|
|
NM_001370259.2(MEN1):c.762G>A (p.Leu254=)
|
rs199909967
|
0.00018
|
|
NM_002878.4(RAD51D):c.39C>G (p.Thr13=)
|
rs146448657
|
0.00018
|
|
NM_002878.4(RAD51D):c.904-3C>T
|
rs45478491
|
0.00018
|
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00018
|
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
|
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)
|
rs150882838
|
0.00017
|
|
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)
|
rs780049836
|
0.00017
|
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00017
|
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00017
|
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00017
|
|
NM_000455.5(STK11):c.597+8C>T
|
rs565387911
|
0.00017
|
|
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)
|
rs376727038
|
0.00017
|
|
NM_000465.4(BARD1):c.2082C>T (p.Leu694=)
|
rs139620052
|
0.00017
|
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
|
NM_000546.6(TP53):c.648G>C (p.Val216=)
|
rs199693249
|
0.00017
|
|
NM_000548.5(TSC2):c.148A>G (p.Met50Val)
|
rs140618379
|
0.00017
|
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
|
NM_004656.4(BAP1):c.376-4G>A
|
rs369277958
|
0.00017
|
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00017
|
|
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)
|
rs141458731
|
0.00017
|
|
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp)
|
rs138070947
|
0.00017
|
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
|
NM_000038.6(APC):c.2205G>A (p.Ala735=)
|
rs141001261
|
0.00016
|
|
NM_000038.6(APC):c.6669A>G (p.Ser2223=)
|
rs372680843
|
0.00016
|
|
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser)
|
rs151163793
|
0.00016
|
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00016
|
|
NM_000075.4(CDK4):c.684-4A>T
|
rs370609910
|
0.00016
|
|
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=)
|
rs199901898
|
0.00016
|
|
NM_000179.3(MSH6):c.2925C>T (p.Asn975=)
|
rs139026662
|
0.00016
|
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
|
NM_000314.8(PTEN):c.234C>T (p.Thr78=)
|
rs35917308
|
0.00016
|
|
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)
|
rs140352085
|
0.00016
|
|
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)
|
rs187447337
|
0.00016
|
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
|
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)
|
rs374936223
|
0.00016
|
|
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=)
|
rs368923127
|
0.00016
|
|
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys)
|
rs370404391
|
0.00016
|
|
NM_000548.5(TSC2):c.649-9C>G
|
rs781099543
|
0.00016
|
|
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)
|
rs553907248
|
0.00016
|
|
NM_005359.6(SMAD4):c.582A>G (p.Thr194=)
|
rs145805120
|
0.00016
|
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00016
|
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00016
|
|
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)
|
rs143026267
|
0.00016
|
|
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)
|
rs201803986
|
0.00016
|
|
NM_144997.7(FLCN):c.1062+7G>A
|
rs540198776
|
0.00016
|
|
NM_144997.7(FLCN):c.1278C>T (p.Ile426=)
|
rs41459448
|
0.00016
|
|
NM_000038.6(APC):c.2586C>G (p.Asn862Lys)
|
rs147972247
|
0.00015
|
|
NM_000038.6(APC):c.5178A>G (p.Glu1726=)
|
rs368494571
|
0.00015
|
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00015
|
|
NM_000245.4(MET):c.1412G>A (p.Gly471Glu)
|
rs373312981
|
0.00015
|
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00015
|
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00015
|
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00015
|
|
NM_000465.4(BARD1):c.1554C>T (p.Ala518=)
|
rs139612775
|
0.00015
|
|
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
|
NM_000548.5(TSC2):c.2356-15T>A
|
rs189674303
|
0.00015
|
|
NM_000548.5(TSC2):c.300G>A (p.Ala100=)
|
rs45517100
|
0.00015
|
|
NM_000548.5(TSC2):c.4044C>T (p.His1348=)
|
rs137854084
|
0.00015
|
|
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=)
|
rs144965811
|
0.00015
|
|
NM_000548.5(TSC2):c.552C>T (p.Val184=)
|
rs199991910
|
0.00015
|
|
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)
|
rs80338856
|
0.00015
|
|
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=)
|
rs147331514
|
0.00015
|
|
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp)
|
rs375804228
|
0.00015
|
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00015
|
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
|
NM_004360.5(CDH1):c.394G>A (p.Val132Ile)
|
rs142498771
|
0.00015
|
|
NM_004655.4(AXIN2):c.780T>C (p.Ser260=)
|
rs147681058
|
0.00015
|
|
NM_004656.4(BAP1):c.1407C>T (p.Ser469=)
|
rs150524807
|
0.00015
|
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00015
|
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
|
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
|
rs149891333
|
0.00015
|
|
NM_024675.4(PALB2):c.1794G>A (p.Leu598=)
|
rs182494675
|
0.00015
|
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00015
|
|
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)
|
rs28941472
|
0.00014
|
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
|
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)
|
rs377403073
|
0.00014
|
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00014
|
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
|
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser)
|
rs143664472
|
0.00014
|
|
NM_000465.4(BARD1):c.279A>G (p.Gln93=)
|
rs370000575
|
0.00014
|
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00014
|
|
NM_000548.5(TSC2):c.1947-3C>T
|
rs201106259
|
0.00014
|
|
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg)
|
rs137854215
|
0.00014
|
|
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp)
|
rs373939435
|
0.00014
|
|
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys)
|
rs45517409
|
0.00014
|
|
NM_000551.4(VHL):c.246C>T (p.Arg82=)
|
rs587780993
|
0.00014
|
|
NM_001370259.2(MEN1):c.1351-4C>T
|
rs764408631
|
0.00014
|
|
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)
|
rs576247658
|
0.00014
|
|
NM_004329.3(BMPR1A):c.676-6A>C
|
rs186999445
|
0.00014
|
|
NM_004360.5(CDH1):c.1353T>C (p.Ile451=)
|
rs114192597
|
0.00014
|
|
NM_004655.4(AXIN2):c.1176G>A (p.Glu392=)
|
rs376052287
|
0.00014
|
|
NM_004656.4(BAP1):c.2091C>T (p.Ser697=)
|
rs754513396
|
0.00014
|
|
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)
|
rs138800446
|
0.00014
|
|
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)
|
rs587780890
|
0.00014
|
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
|
NM_016955.4(SEPSECS):c.548-1G>A
|
rs200041461
|
0.00014
|
|
NM_020975.6(RET):c.1017G>A (p.Ser339=)
|
rs369810881
|
0.00014
|
|
NM_020975.6(RET):c.1063+9G>A
|
rs765463636
|
0.00014
|
|
NM_024675.4(PALB2):c.2586+10A>G
|
rs373321719
|
0.00014
|
|
NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)
|
rs200660337
|
0.00014
|
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
|
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
|
rs145078268
|
0.00013
|
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00013
|
|
NM_000038.6(APC):c.6609T>C (p.Val2203=)
|
rs149328018
|
0.00013
|
|
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)
|
rs150143957
|
0.00013
|
|
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)
|
rs145513717
|
0.00013
|
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00013
|
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
|
NM_000059.4(BRCA2):c.68-3T>G
|
rs786201770
|
0.00013
|
|
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)
|
rs144890720
|
0.00013
|
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00013
|
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
|
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
|
rs202145681
|
0.00013
|
|
NM_000251.3(MSH2):c.505A>G (p.Ile169Val)
|
rs63750716
|
0.00013
|
|
NM_000368.5(TSC1):c.2209-3T>C
|
rs368309229
|
0.00013
|
|
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys)
|
rs142954164
|
0.00013
|
|
NM_000465.4(BARD1):c.1203T>C (p.Ser401=)
|
rs370553043
|
0.00013
|
|
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)
|
rs138593305
|
0.00013
|
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
|
NM_000548.5(TSC2):c.*5G>A
|
rs201342697
|
0.00013
|
|
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)
|
rs45517284
|
0.00013
|
|
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)
|
rs45448801
|
0.00013
|
|
NM_000548.5(TSC2):c.4447A>G (p.Arg1483Gly)
|
rs199644840
|
0.00013
|
|
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)
|
rs138780791
|
0.00013
|
|
NM_001083116.3(PRF1):c.695G>A (p.Arg232His)
|
rs747380397
|
0.00013
|
|
NM_002691.4(POLD1):c.1017G>T (p.Ser339=)
|
rs373404887
|
0.00013
|
|
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
0.00013
|
|
NM_004360.5(CDH1):c.1020G>A (p.Thr340=)
|
rs61747632
|
0.00013
|
|
NM_004655.4(AXIN2):c.1125C>T (p.Ile375=)
|
rs748945736
|
0.00013
|
|
NM_004655.4(AXIN2):c.1305G>A (p.Pro435=)
|
rs369221405
|
0.00013
|
|
NM_004655.4(AXIN2):c.1327C>T (p.Leu443=)
|
rs371691797
|
0.00013
|
|
NM_004655.4(AXIN2):c.435C>A (p.Val145=)
|
rs111470596
|
0.00013
|
|
NM_006231.4(POLE):c.1188G>A (p.Glu396=)
|
rs371717068
|
0.00013
|
|
NM_006361.6(HOXB13):c.474G>A (p.Pro158=)
|
rs35033273
|
0.00013
|
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
|
NM_020975.6(RET):c.1893C>T (p.Asp631=)
|
rs55846256
|
0.00013
|
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
rs515726085
|
0.00013
|
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
|
NM_024675.4(PALB2):c.48+7G>C
|
rs190626072
|
0.00013
|
|
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)
|
rs137852928
|
0.00013
|
|
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr)
|
rs142898216
|
0.00013
|
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00013
|
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
|
NM_000038.6(APC):c.7109G>T (p.Gly2370Val)
|
rs140079759
|
0.00012
|
|
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)
|
rs146017595
|
0.00012
|
|
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)
|
rs145667735
|
0.00012
|
|
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr)
|
rs372838622
|
0.00012
|
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
|
NM_000143.4(FH):c.217G>A (p.Val73Met)
|
rs201878591
|
0.00012
|
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
|
NM_000249.4(MLH1):c.1050A>G (p.Pro350=)
|
rs137937003
|
0.00012
|
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00012
|
|
NM_000249.4(MLH1):c.843A>C (p.Ala281=)
|
rs146796765
|
0.00012
|
|
NM_000314.8(PTEN):c.1197A>G (p.Gln399=)
|
rs374684043
|
0.00012
|
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
|
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val)
|
rs397514880
|
0.00012
|
|
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)
|
rs199755731
|
0.00012
|
|
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr)
|
rs118203721
|
0.00012
|
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00012
|
|
NM_000548.5(TSC2):c.1599+10G>A
|
rs376692777
|
0.00012
|
|
NM_000548.5(TSC2):c.2546-5C>T
|
rs45517247
|
0.00012
|
|
NM_000548.5(TSC2):c.3611-4G>A
|
rs368926908
|
0.00012
|
|
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys)
|
rs62642481
|
0.00012
|
|
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu)
|
rs377123510
|
0.00012
|
|
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn)
|
rs143727462
|
0.00012
|
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00012
|
|
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)
|
rs368492235
|
0.00012
|
|
NM_004656.4(BAP1):c.879G>A (p.Pro293=)
|
rs200787553
|
0.00012
|
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00012
|
|
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly)
|
rs375451955
|
0.00012
|
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00012
|
|
NM_144997.7(FLCN):c.977C>T (p.Pro326Leu)
|
rs138031155
|
0.00012
|
|
NM_000038.6(APC):c.277C>G (p.Leu93Val)
|
rs201567345
|
0.00011
|
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00011
|
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
|
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe)
|
rs377595814
|
0.00011
|
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
|
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00011
|
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00011
|
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
|
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)
|
rs2229061
|
0.00011
|
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
|
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)
|
rs63750843
|
0.00011
|
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
|
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln)
|
rs118203692
|
0.00011
|
|
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter)
|
rs191912891
|
0.00011
|
|
NM_000455.5(STK11):c.1038C>T (p.Gly346=)
|
rs767565606
|
0.00011
|
|
NM_000455.5(STK11):c.900C>T (p.Ile300=)
|
rs546089394
|
0.00011
|
|
NM_000455.5(STK11):c.920+5G>A
|
rs587780013
|
0.00011
|
|
NM_000465.4(BARD1):c.1152C>T (p.Ser384=)
|
rs368291318
|
0.00011
|
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
|
NM_000487.6(ARSA):c.869G>A (p.Arg290His)
|
rs199476355
|
0.00011
|
|
NM_000535.7(PMS2):c.1533G>A (p.Thr511=)
|
rs542520309
|
0.00011
|
|
NM_000535.7(PMS2):c.1689A>G (p.Arg563=)
|
rs551226281
|
0.00011
|
|
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)
|
rs63751023
|
0.00011
|
|
NM_000546.6(TP53):c.97-9C>T
|
rs202217267
|
0.00011
|
|
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys)
|
rs145470784
|
0.00011
|
|
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys)
|
rs137854421
|
0.00011
|
|
NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln)
|
rs768684515
|
0.00011
|
|
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His)
|
rs142848358
|
0.00011
|
|
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu)
|
rs45514391
|
0.00011
|
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
|
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)
|
rs377025174
|
0.00011
|
|
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)
|
rs750112288
|
0.00011
|
|
NM_001370259.2(MEN1):c.1506G>C (p.Lys502Asn)
|
rs774296730
|
0.00011
|
|
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)
|
rs141679530
|
0.00011
|
|
NM_001370259.2(MEN1):c.339C>T (p.Ser113=)
|
rs559635859
|
0.00011
|
|
NM_001370259.2(MEN1):c.492C>T (p.Ala164=)
|
rs146759807
|
0.00011
|
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
|
NM_004360.5(CDH1):c.*8G>A
|
rs201223411
|
0.00011
|
|
NM_004360.5(CDH1):c.2451G>A (p.Ala817=)
|
rs149450874
|
0.00011
|
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
|
NM_004655.4(AXIN2):c.2433G>A (p.Glu811=)
|
rs147134295
|
0.00011
|
|
NM_004656.4(BAP1):c.1212C>G (p.Asp404Glu)
|
rs140998455
|
0.00011
|
|
NM_004656.4(BAP1):c.1344G>A (p.Leu448=)
|
rs368684241
|
0.00011
|
|
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg)
|
rs576538858
|
0.00011
|
|
NM_004656.4(BAP1):c.1946G>A (p.Cys649Tyr)
|
rs151308667
|
0.00011
|
|
NM_006231.4(POLE):c.940T>G (p.Ser314Ala)
|
rs770403791
|
0.00011
|
|
NM_017763.6(RNF43):c.1207C>T (p.Gln403Ter)
|
rs1436857798
|
0.00011
|
|
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)
|
rs374461212
|
0.00011
|
|
NM_020975.6(RET):c.2556C>G (p.Ile852Met)
|
rs377767426
|
0.00011
|
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
|
NM_024675.4(PALB2):c.1455T>G (p.Thr485=)
|
rs566105533
|
0.00011
|
|
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)
|
rs45528833
|
0.00011
|
|
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)
|
rs28363307
|
0.00011
|
|
NM_144997.7(FLCN):c.1704G>A (p.Thr568=)
|
rs147554296
|
0.00011
|
|
NM_000038.6(APC):c.3786T>C (p.Tyr1262=)
|
rs147411334
|
0.00010
|
|
NM_000038.6(APC):c.894C>T (p.His298=)
|
rs143341972
|
0.00010
|
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00010
|
|
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)
|
rs587780634
|
0.00010
|
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
|
NM_000071.3(CBS):c.362G>A (p.Arg121His)
|
rs770095972
|
0.00010
|
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
0.00010
|
|
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)
|
rs542838372
|
0.00010
|
|
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
|
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)
|
rs372990379
|
0.00010
|
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
|
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)
|
rs587779934
|
0.00010
|
|
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)
|
rs147852216
|
0.00010
|
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00010
|
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
|
NM_000314.8(PTEN):c.579G>A (p.Leu193=)
|
rs568851024
|
0.00010
|
|
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile)
|
rs148931779
|
0.00010
|
|
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=)
|
rs118203751
|
0.00010
|
|
NM_000465.4(BARD1):c.93C>T (p.Arg31=)
|
rs778803692
|
0.00010
|
|
NM_000535.7(PMS2):c.2276-10A>G
|
rs573900018
|
0.00010
|
|
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr)
|
rs376573446
|
0.00010
|
|
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala)
|
rs139753238
|
0.00010
|
|
NM_000548.5(TSC2):c.3468A>G (p.Pro1156=)
|
rs147242130
|
0.00010
|
|
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser)
|
rs144062721
|
0.00010
|
|
NM_000548.5(TSC2):c.619G>A (p.Val207Ile)
|
rs139929314
|
0.00010
|
|
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=)
|
rs577268289
|
0.00010
|
|
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=)
|
rs368783097
|
0.00010
|
|
NM_002691.4(POLD1):c.1182C>T (p.Thr394=)
|
rs377462923
|
0.00010
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
0.00010
|
|
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg)
|
rs370004702
|
0.00010
|
|
NM_004656.4(BAP1):c.660-15C>T
|
rs200791465
|
0.00010
|
|
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)
|
rs142292491
|
0.00010
|
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
|
NM_024675.4(PALB2):c.1641C>T (p.Thr547=)
|
rs564514783
|
0.00010
|
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00010
|
|
NM_000038.6(APC):c.1958+10G>T
|
rs375175370
|
0.00009
|
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00009
|
|
NM_000038.6(APC):c.7781C>G (p.Ser2594Cys)
|
rs543396310
|
0.00009
|
|
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)
|
rs3218684
|
0.00009
|
|
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)
|
rs2229021
|
0.00009
|
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
|
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly)
|
rs150408832
|
0.00009
|
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
|
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)
|
rs587778079
|
0.00009
|
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
|
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=)
|
rs587780675
|
0.00009
|
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
|
NM_000245.4(MET):c.110T>C (p.Val37Ala)
|
rs201315884
|
0.00009
|
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00009
|
|
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)
|
rs587779074
|
0.00009
|
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00009
|
|
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)
|
rs63750684
|
0.00009
|
|
NM_000251.3(MSH2):c.2802G>A (p.Thr934=)
|
rs150259097
|
0.00009
|
|
NM_000251.3(MSH2):c.367-19A>T
|
rs730881783
|
0.00009
|
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00009
|
|
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)
|
rs63751107
|
0.00009
|
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00009
|
|
NM_000368.5(TSC1):c.1333+5A>G
|
rs118203515
|
0.00009
|
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
|
NM_000368.5(TSC1):c.2423C>T (p.Ala808Val)
|
rs756514375
|
0.00009
|
|
NM_000455.5(STK11):c.735-9G>A
|
rs201899557
|
0.00009
|
|
NM_000455.5(STK11):c.787T>C (p.Leu263=)
|
rs372378119
|
0.00009
|
|
NM_000465.4(BARD1):c.1059C>G (p.Pro353=)
|
rs368649242
|
0.00009
|
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
|
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)
|
rs149262370
|
0.00009
|
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
|
NM_000535.7(PMS2):c.1980C>T (p.Ala660=)
|
rs368928783
|
0.00009
|
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00009
|
|
NM_000546.6(TP53):c.474C>T (p.Arg158=)
|
rs139200646
|
0.00009
|
|
NM_000546.6(TP53):c.6G>A (p.Glu2=)
|
rs143458271
|
0.00009
|
|
NM_000546.6(TP53):c.91G>A (p.Val31Ile)
|
rs201753350
|
0.00009
|
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
|
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)
|
rs143329068
|
0.00009
|
|
NM_001370259.2(MEN1):c.655-4del
|
rs748005956
|
0.00009
|
|
NM_002691.4(POLD1):c.1593C>T (p.Asn531=)
|
rs757383245
|
0.00009
|
|
NM_002691.4(POLD1):c.1596C>T (p.Ala532=)
|
rs550441767
|
0.00009
|
|
NM_002691.4(POLD1):c.1626C>T (p.Pro542=)
|
rs201208120
|
0.00009
|
|
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)
|
rs201141245
|
0.00009
|
|
NM_002878.4(RAD51D):c.864C>T (p.Gly288=)
|
rs138557828
|
0.00009
|
|
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)
|
rs60376624
|
0.00009
|
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
0.00009
|
|
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=)
|
rs535411352
|
0.00009
|
|
NM_004360.5(CDH1):c.1359C>T (p.His453=)
|
rs114861467
|
0.00009
|
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00009
|
|
NM_004360.5(CDH1):c.1996A>C (p.Asn666His)
|
rs150427791
|
0.00009
|
|
NM_004360.5(CDH1):c.2643C>T (p.Asp881=)
|
rs114708971
|
0.00009
|
|
NM_004360.5(CDH1):c.387+5G>A
|
rs113055163
|
0.00009
|
|
NM_004656.4(BAP1):c.186C>T (p.Val62=)
|
rs199608453
|
0.00009
|
|
NM_004656.4(BAP1):c.1872G>A (p.Gly624=)
|
rs375950004
|
0.00009
|
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
|
NM_020975.6(RET):c.1530C>T (p.Ala510=)
|
rs553492964
|
0.00009
|
|
NM_020975.6(RET):c.2409C>T (p.Ile803=)
|
rs535051804
|
0.00009
|
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00009
|
|
NM_024675.4(PALB2):c.12T>C (p.Pro4=)
|
rs567706422
|
0.00009
|
|
NM_024675.4(PALB2):c.1431C>T (p.Thr477=)
|
rs515726068
|
0.00009
|
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
|
NM_024675.4(PALB2):c.1623G>A (p.Arg541=)
|
rs745665968
|
0.00009
|
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
|
NM_024675.4(PALB2):c.344G>T (p.Gly115Val)
|
rs145598272
|
0.00009
|
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00009
|
|
NM_000038.6(APC):c.4212C>A (p.Ser1404=)
|
rs144655979
|
0.00008
|
|
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)
|
rs367905430
|
0.00008
|
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00008
|
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
|
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)
|
rs375853155
|
0.00008
|
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00008
|
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
|
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr)
|
rs63750757
|
0.00008
|
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
|
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr)
|
rs765695557
|
0.00008
|
|
NM_000368.5(TSC1):c.1567G>C (p.Ala523Pro)
|
rs118203548
|
0.00008
|
|
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser)
|
rs537585211
|
0.00008
|
|
NM_000368.5(TSC1):c.851G>A (p.Arg284His)
|
rs151309813
|
0.00008
|
|
NM_000535.7(PMS2):c.2127C>T (p.Phe709=)
|
rs199943748
|
0.00008
|
|
NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys)
|
rs397514938
|
0.00008
|
|
NM_000548.5(TSC2):c.3815-16C>T
|
rs546810161
|
0.00008
|
|
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys)
|
rs45517126
|
0.00008
|
|
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)
|
rs111246617
|
0.00008
|
|
NM_001370259.2(MEN1):c.1434C>T (p.Gly478=)
|
rs200280309
|
0.00008
|
|
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg)
|
rs201313861
|
0.00008
|
|
NM_004360.5(CDH1):c.164T>G (p.Val55Gly)
|
rs587778174
|
0.00008
|
|
NM_004360.5(CDH1):c.894C>T (p.Ala298=)
|
rs139110184
|
0.00008
|
|
NM_004655.4(AXIN2):c.1623C>T (p.Cys541=)
|
rs199931425
|
0.00008
|
|
NM_004655.4(AXIN2):c.738C>T (p.Thr246=)
|
rs201191083
|
0.00008
|
|
NM_004655.4(AXIN2):c.828G>A (p.Arg276=)
|
rs730881404
|
0.00008
|
|
NM_004656.4(BAP1):c.333C>T (p.Thr111=)
|
rs375700254
|
0.00008
|
|
NM_004656.4(BAP1):c.642C>T (p.Ile214=)
|
rs200953639
|
0.00008
|
|
NM_004656.4(BAP1):c.869A>G (p.Asn290Ser)
|
rs747079481
|
0.00008
|
|
NM_005359.6(SMAD4):c.852A>G (p.Gln284=)
|
rs144378484
|
0.00008
|
|
NM_007194.4(CHEK2):c.*7T>C
|
rs121908710
|
0.00008
|
|
NM_007194.4(CHEK2):c.1259+8A>G
|
rs368388249
|
0.00008
|
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00008
|
|
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)
|
rs75873440
|
0.00008
|
|
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)
|
rs141185224
|
0.00008
|
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
|
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)
|
rs376619846
|
0.00008
|
|
NM_024675.4(PALB2):c.949A>C (p.Thr317Pro)
|
rs587780223
|
0.00008
|
|
NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del)
|
rs773452586
|
0.00008
|
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
|
NM_144997.7(FLCN):c.1539-6C>T
|
rs779028759
|
0.00008
|
|
NM_144997.7(FLCN):c.205G>A (p.Val69Ile)
|
rs567617762
|
0.00008
|
|
NM_144997.7(FLCN):c.687C>T (p.Phe229=)
|
rs754710935
|
0.00008
|
|
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)
|
rs146525143
|
0.00007
|
|
NM_000038.6(APC):c.1408+3A>G
|
rs534358523
|
0.00007
|
|
NM_000038.6(APC):c.1443G>A (p.Val481=)
|
rs146179851
|
0.00007
|
|
NM_000038.6(APC):c.2461G>A (p.Val821Ile)
|
rs138498551
|
0.00007
|
|
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)
|
rs139618756
|
0.00007
|
|
NM_000038.6(APC):c.4533C>T (p.Leu1511=)
|
rs150089434
|
0.00007
|
|
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln)
|
rs529480958
|
0.00007
|
|
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)
|
rs538230198
|
0.00007
|
|
NM_000038.6(APC):c.7471A>G (p.Met2491Val)
|
rs375674083
|
0.00007
|
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
|
NM_000038.6(APC):c.934-14C>T
|
rs778707022
|
0.00007
|
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00007
|
|
NM_000051.4(ATM):c.2778A>G (p.Lys926=)
|
rs372569168
|
0.00007
|
|
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)
|
rs587778075
|
0.00007
|
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
|
NM_000133.4(F9):c.1346G>A (p.Arg449Gln)
|
rs143018900
|
0.00007
|
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
|
NM_000143.4(FH):c.12A>G (p.Ala4=)
|
rs201277370
|
0.00007
|
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
|
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
|
rs202127474
|
0.00007
|
|
NM_000179.3(MSH6):c.2493C>T (p.Pro831=)
|
rs778911612
|
0.00007
|
|
NM_000187.4(HGD):c.125A>C (p.Glu42Ala)
|
rs373921680
|
0.00007
|
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00007
|
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00007
|
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
|
NM_000249.4(MLH1):c.1558+5G>A
|
rs199935667
|
0.00007
|
|
NM_000249.4(MLH1):c.1990-6G>A
|
rs117221851
|
0.00007
|
|
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)
|
rs148317871
|
0.00007
|
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
|
NM_000249.4(MLH1):c.42A>C (p.Thr14=)
|
rs369737664
|
0.00007
|
|
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)
|
rs4986984
|
0.00007
|
|
NM_000249.4(MLH1):c.69A>G (p.Glu23=)
|
rs63750555
|
0.00007
|
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00007
|
|
NM_000368.5(TSC1):c.1302A>G (p.Arg434=)
|
rs907840461
|
0.00007
|
|
NM_000368.5(TSC1):c.2209-9C>G
|
rs118203660
|
0.00007
|
|
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala)
|
rs373888280
|
0.00007
|
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
|
NM_000465.4(BARD1):c.119C>T (p.Ala40Val)
|
rs71579841
|
0.00007
|
|
NM_000465.4(BARD1):c.1240A>T (p.Met414Leu)
|
rs759601398
|
0.00007
|
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00007
|
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00007
|
|
NM_000465.4(BARD1):c.687T>C (p.Phe229=)
|
rs756803590
|
0.00007
|
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00007
|
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
|
NM_000546.6(TP53):c.248C>T (p.Ala83Val)
|
rs201717599
|
0.00007
|
|
NM_000546.6(TP53):c.618G>A (p.Leu206=)
|
rs142813240
|
0.00007
|
|
NM_000546.6(TP53):c.903A>G (p.Pro301=)
|
rs72661120
|
0.00007
|
|
NM_000548.5(TSC2):c.*7G>A
|
rs765016970
|
0.00007
|
|
NM_000548.5(TSC2):c.1120-16G>A
|
rs768241936
|
0.00007
|
|
NM_000548.5(TSC2):c.1656A>G (p.Ala552=)
|
rs373515515
|
0.00007
|
|
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met)
|
rs137854410
|
0.00007
|
|
NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe)
|
rs140772300
|
0.00007
|
|
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)
|
rs137854065
|
0.00007
|
|
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=)
|
rs137854152
|
0.00007
|
|
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)
|
rs45517392
|
0.00007
|
|
NM_000548.5(TSC2):c.5259+9T>C
|
rs1057522018
|
0.00007
|
|
NM_000548.5(TSC2):c.600-15C>T
|
rs369708731
|
0.00007
|
|
NM_000548.5(TSC2):c.630G>A (p.Ala210=)
|
rs567756494
|
0.00007
|
|
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)
|
rs139060277
|
0.00007
|
|
NM_000551.4(VHL):c.135G>A (p.Pro45=)
|
rs773519476
|
0.00007
|
|
NM_000551.4(VHL):c.25G>A (p.Asp9Asn)
|
rs587780730
|
0.00007
|
|
NM_001370259.2(MEN1):c.1692G>T (p.Leu564=)
|
rs367581776
|
0.00007
|
|
NM_002528.7(NTHL1):c.526-1G>A
|
rs779757251
|
0.00007
|
|
NM_002691.4(POLD1):c.1062G>A (p.Ala354=)
|
rs758535338
|
0.00007
|
|
NM_002691.4(POLD1):c.1503C>T (p.Asn501=)
|
rs371647100
|
0.00007
|
|
NM_002878.4(RAD51D):c.957G>A (p.Gln319=)
|
rs147669627
|
0.00007
|
|
NM_002878.4(RAD51D):c.973G>A (p.Gly325Ser)
|
rs587780106
|
0.00007
|
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
|
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00007
|
|
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)
|
rs200951235
|
0.00007
|
|
NM_004329.3(BMPR1A):c.879G>A (p.Ala293=)
|
rs770203548
|
0.00007
|
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
|
NM_004360.5(CDH1):c.854C>T (p.Thr285Ile)
|
rs587781634
|
0.00007
|
|
NM_004655.4(AXIN2):c.894C>T (p.Asn298=)
|
rs368689290
|
0.00007
|
|
NM_004656.4(BAP1):c.1749G>A (p.Ser583=)
|
rs147775249
|
0.00007
|
|
NM_004656.4(BAP1):c.2095C>A (p.Arg699=)
|
rs372987719
|
0.00007
|
|
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=)
|
rs113545983
|
0.00007
|
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00007
|
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00007
|
|
NM_024675.4(PALB2):c.1935G>A (p.Glu645=)
|
rs141707455
|
0.00007
|
|
NM_024675.4(PALB2):c.2032C>T (p.Leu678=)
|
rs376189676
|
0.00007
|
|
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)
|
rs757145884
|
0.00007
|
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
rs730881887
|
0.00007
|
|
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)
|
rs45543843
|
0.00007
|
|
NM_024675.4(PALB2):c.768C>T (p.Ser256=)
|
rs45487491
|
0.00007
|
|
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)
|
rs201523760
|
0.00007
|
|
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)
|
rs573992101
|
0.00007
|
|
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys)
|
rs143525924
|
0.00007
|
|
NM_144997.7(FLCN):c.792G>A (p.Ala264=)
|
rs140500421
|
0.00007
|
|
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)
|
rs762370059
|
0.00007
|
|
NM_144997.7(FLCN):c.867C>T (p.Leu289=)
|
rs367562964
|
0.00007
|
|
NM_000038.6(APC):c.1139G>A (p.Arg380Gln)
|
rs587782886
|
0.00006
|
|
NM_000038.6(APC):c.3624C>T (p.Thr1208=)
|
rs730882125
|
0.00006
|
|
NM_000038.6(APC):c.3632T>G (p.Met1211Arg)
|
rs575268622
|
0.00006
|
|
NM_000038.6(APC):c.4833G>A (p.Gln1611=)
|
rs762030106
|
0.00006
|
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
|
NM_000038.6(APC):c.7574G>A (p.Arg2525His)
|
rs762034315
|
0.00006
|
|
NM_000038.6(APC):c.7888G>A (p.Val2630Ile)
|
rs199688874
|
0.00006
|
|
NM_000038.6(APC):c.789T>A (p.Gly263=)
|
rs767053295
|
0.00006
|
|
NM_000038.6(APC):c.7929A>G (p.Leu2643=)
|
rs138796072
|
0.00006
|
|
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)
|
rs587778046
|
0.00006
|
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
|
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)
|
rs779297339
|
0.00006
|
|
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)
|
rs147515380
|
0.00006
|
|
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)
|
rs148705269
|
0.00006
|
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00006
|
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
|
NM_000051.4(ATM):c.3588A>G (p.Lys1196=)
|
rs376524625
|
0.00006
|
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
|
NM_000051.4(ATM):c.7521C>T (p.Asp2507=)
|
rs751234924
|
0.00006
|
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
|
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)
|
rs121964980
|
0.00006
|
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
|
NM_000179.3(MSH6):c.1162C>G (p.His388Asp)
|
rs770386388
|
0.00006
|
|
NM_000179.3(MSH6):c.178T>C (p.Leu60=)
|
rs35819209
|
0.00006
|
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00006
|
|
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)
|
rs150990541
|
0.00006
|
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
|
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
|
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)
|
rs374486449
|
0.00006
|
|
NM_000249.4(MLH1):c.1104G>A (p.Ser368=)
|
rs769364808
|
0.00006
|
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
|
NM_000249.4(MLH1):c.453G>A (p.Thr151=)
|
rs369521379
|
0.00006
|
|
NM_000249.4(MLH1):c.954C>T (p.His318=)
|
rs146777069
|
0.00006
|
|
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)
|
rs587779086
|
0.00006
|
|
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=)
|
rs56076152
|
0.00006
|
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
|
NM_000251.3(MSH2):c.2634+7C>G
|
rs905179122
|
0.00006
|
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00006
|
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
|
NM_000251.3(MSH2):c.512G>A (p.Arg171Lys)
|
rs63750902
|
0.00006
|
|
NM_000251.3(MSH2):c.818T>C (p.Val273Ala)
|
rs144288433
|
0.00006
|
|
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)
|
rs200416912
|
0.00006
|
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
|
NM_000368.5(TSC1):c.1209G>A (p.Ser403=)
|
rs141184479
|
0.00006
|
|
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu)
|
rs751247705
|
0.00006
|
|
NM_000368.5(TSC1):c.625A>G (p.Met209Val)
|
rs754980229
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met)
|
rs370029782
|
0.00006
|
|
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser)
|
rs750834241
|
0.00006
|
|
NM_000455.5(STK11):c.1257C>T (p.Ser419=)
|
rs375328708
|
0.00006
|
|
NM_000455.5(STK11):c.125G>T (p.Arg42Leu)
|
rs148830698
|
0.00006
|
|
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)
|
rs121913322
|
0.00006
|
|
NM_000455.5(STK11):c.921-10G>A
|
rs183406870
|
0.00006
|
|
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)
|
rs371264852
|
0.00006
|
|
NM_000465.4(BARD1):c.1084T>G (p.Cys362Gly)
|
rs141351035
|
0.00006
|
|
NM_000465.4(BARD1):c.1585C>T (p.Arg529Trp)
|
rs375515606
|
0.00006
|
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
|
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn)
|
rs376256852
|
0.00006
|
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
|
NM_000518.5(HBB):c.75T>A (p.Gly25=)
|
rs33951465
|
0.00006
|
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
|
NM_000535.7(PMS2):c.1500C>T (p.Ser500=)
|
rs116094787
|
0.00006
|
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
|
NM_000535.7(PMS2):c.475G>A (p.Val159Met)
|
rs142416537
|
0.00006
|
|
NM_000535.7(PMS2):c.477G>A (p.Val159=)
|
rs147701251
|
0.00006
|
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
|
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)
|
rs45486591
|
0.00006
|
|
NM_000548.5(TSC2):c.1341G>A (p.Ala447=)
|
rs141609319
|
0.00006
|
|
NM_000548.5(TSC2):c.1717-15G>T
|
rs372949465
|
0.00006
|
|
NM_000548.5(TSC2):c.3132-16G>A
|
rs199572528
|
0.00006
|
|
NM_000548.5(TSC2):c.363C>T (p.Ala121=)
|
rs45517106
|
0.00006
|
|
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His)
|
rs137854288
|
0.00006
|
|
NM_000548.5(TSC2):c.618C>T (p.Cys206=)
|
rs45498496
|
0.00006
|
|
NM_000548.5(TSC2):c.649-17G>A
|
rs757405342
|
0.00006
|
|
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)
|
rs1057519261
|
0.00006
|
|
NM_000551.4(VHL):c.531A>G (p.Arg177=)
|
rs766088261
|
0.00006
|
|
NM_001370259.2(MEN1):c.1003C>A (p.Arg335=)
|
rs371364206
|
0.00006
|
|
NM_001370259.2(MEN1):c.1764G>A (p.Lys588=)
|
rs373669288
|
0.00006
|
|
NM_002691.4(POLD1):c.864G>A (p.Ala288=)
|
rs781735549
|
0.00006
|
|
NM_002878.4(RAD51D):c.263+7G>A
|
rs56218020
|
0.00006
|
|
NM_002878.4(RAD51D):c.629C>T (p.Ala210Val)
|
rs376855484
|
0.00006
|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
0.00006
|
|
NM_004168.4(SDHA):c.453C>A (p.Val151=)
|
rs138917116
|
0.00006
|
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00006
|
|
NM_004360.5(CDH1):c.1416C>A (p.Thr472=)
|
rs139937234
|
0.00006
|
|
NM_004360.5(CDH1):c.2136G>T (p.Gly712=)
|
rs763402728
|
0.00006
|
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
|
NM_004360.5(CDH1):c.2244C>A (p.Thr748=)
|
rs1303187205
|
0.00006
|
|
NM_004360.5(CDH1):c.393C>T (p.Ser131=)
|
rs145430811
|
0.00006
|
|
NM_004360.5(CDH1):c.49-3C>T
|
rs587782366
|
0.00006
|
|
NM_004655.4(AXIN2):c.2478G>T (p.Thr826=)
|
rs148159432
|
0.00006
|
|
NM_004656.4(BAP1):c.1727C>T (p.Thr576Ile)
|
rs374920141
|
0.00006
|
|
NM_004656.4(BAP1):c.1781G>C (p.Gly594Ala)
|
rs144172190
|
0.00006
|
|
NM_004656.4(BAP1):c.765A>G (p.Val255=)
|
rs1222530223
|
0.00006
|
|
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=)
|
rs377668478
|
0.00006
|
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
|
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)
|
rs137853010
|
0.00006
|
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
|
NM_007194.4(CHEK2):c.847-17T>C
|
rs199780411
|
0.00006
|
|
NM_007294.4(BRCA1):c.3346G>C (p.Val1116Leu)
|
rs55909400
|
0.00006
|
|
NM_012203.2(GRHPR):c.734+1G>A
|
rs148049120
|
0.00006
|
|
NM_020975.6(RET):c.1894G>A (p.Glu632Lys)
|
rs377767407
|
0.00006
|
|
NM_020975.6(RET):c.2116G>A (p.Val706Met)
|
rs137855422
|
0.00006
|
|
NM_020975.6(RET):c.2527G>A (p.Glu843Lys)
|
rs755837568
|
0.00006
|
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
|
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)
|
rs200048921
|
0.00006
|
|
NM_024675.4(PALB2):c.1273G>A (p.Val425Met)
|
rs576081828
|
0.00006
|
|
NM_024675.4(PALB2):c.2506G>C (p.Val836Leu)
|
rs536644825
|
0.00006
|
|
NM_024675.4(PALB2):c.765T>C (p.Asp255=)
|
rs45465299
|
0.00006
|
|
NM_024675.4(PALB2):c.929G>A (p.Ser310Asn)
|
rs370887726
|
0.00006
|
|
NM_032043.3(BRIP1):c.1356C>T (p.Asn452=)
|
rs730881640
|
0.00006
|
|
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)
|
rs374362388
|
0.00006
|
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
|
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)
|
rs587781383
|
0.00006
|
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
|
NM_144997.7(FLCN):c.1274A>G (p.Gln425Arg)
|
rs786203348
|
0.00006
|
|
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu)
|
rs199889477
|
0.00006
|
|
NM_144997.7(FLCN):c.189C>T (p.Pro63=)
|
rs750047828
|
0.00006
|
|
NM_144997.7(FLCN):c.444C>T (p.His148=)
|
rs376825814
|
0.00006
|
|
NM_144997.7(FLCN):c.78C>T (p.His26=)
|
rs746222481
|
0.00006
|
|
NM_144997.7(FLCN):c.834G>A (p.Pro278=)
|
rs146801028
|
0.00006
|
|
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)
|
rs111033419
|
0.00006
|
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
|
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)
|
rs121908526
|
0.00005
|
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00005
|
|
NM_000038.6(APC):c.2250A>T (p.Pro750=)
|
rs376526724
|
0.00005
|
|
NM_000038.6(APC):c.3552C>T (p.Ala1184=)
|
rs759407858
|
0.00005
|
|
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)
|
rs201185479
|
0.00005
|
|
NM_000038.6(APC):c.385G>C (p.Glu129Gln)
|
rs376628500
|
0.00005
|
|
NM_000038.6(APC):c.4146C>G (p.Leu1382=)
|
rs876658384
|
0.00005
|
|
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)
|
rs143796828
|
0.00005
|
|
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)
|
rs749142480
|
0.00005
|
|
NM_000038.6(APC):c.7878T>G (p.Thr2626=)
|
rs757020188
|
0.00005
|
|
NM_000038.6(APC):c.7986G>A (p.Glu2662=)
|
rs571645304
|
0.00005
|
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00005
|
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00005
|
|
NM_000051.4(ATM):c.7983T>C (p.Asp2661=)
|
rs143972422
|
0.00005
|
|
NM_000051.4(ATM):c.9031A>G (p.Met3011Val)
|
rs372795527
|
0.00005
|
|
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)
|
rs137853285
|
0.00005
|
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00005
|
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00005
|
|
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
|
rs200379491
|
0.00005
|
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00005
|
|
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)
|
rs72549304
|
0.00005
|
|
NM_000132.4(F8):c.121G>T (p.Gly41Cys)
|
rs137852379
|
0.00005
|
|
NM_000143.4(FH):c.1308G>A (p.Val436=)
|
rs201535626
|
0.00005
|
|
NM_000143.4(FH):c.63C>T (p.Ala21=)
|
rs555404867
|
0.00005
|
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
|
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)
|
rs201518545
|
0.00005
|
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
|
NM_000179.3(MSH6):c.1857A>C (p.Glu619Asp)
|
rs63751121
|
0.00005
|
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00005
|
|
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=)
|
rs61748084
|
0.00005
|
|
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)
|
rs267608089
|
0.00005
|
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
|
NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp)
|
rs773763465
|
0.00005
|
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00005
|
|
NM_000245.4(MET):c.12C>T (p.Pro4=)
|
rs772251895
|
0.00005
|
|
NM_000249.4(MLH1):c.1128T>C (p.Asp376=)
|
rs267607824
|
0.00005
|
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
|
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)
|
rs35045067
|
0.00005
|
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
|
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)
|
rs138705565
|
0.00005
|
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00005
|
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
|
NM_000251.3(MSH2):c.2211-6C>A
|
rs267608003
|
0.00005
|
|
NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser)
|
rs372383829
|
0.00005
|
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00005
|
|
NM_000251.3(MSH2):c.843A>T (p.Ser281=)
|
rs150197753
|
0.00005
|
|
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)
|
rs201334592
|
0.00005
|
|
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)
|
rs121965044
|
0.00005
|
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
|
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)
|
rs200503569
|
0.00005
|
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00005
|
|
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
|
NM_000314.8(PTEN):c.*5T>C
|
rs1006891299
|
0.00005
|
|
NM_000314.8(PTEN):c.720C>T (p.Tyr240=)
|
rs190070312
|
0.00005
|
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00005
|
|
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val)
|
rs372583166
|
0.00005
|
|
NM_000368.5(TSC1):c.231C>T (p.Asn77=)
|
rs397514809
|
0.00005
|
|
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=)
|
rs759047948
|
0.00005
|
|
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)
|
rs753374839
|
0.00005
|
|
NM_000368.5(TSC1):c.402G>A (p.Leu134=)
|
rs147125501
|
0.00005
|
|
NM_000368.5(TSC1):c.73G>A (p.Val25Met)
|
rs1230244328
|
0.00005
|
|
NM_000368.5(TSC1):c.853T>G (p.Phe285Val)
|
rs377076733
|
0.00005
|
|
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg)
|
rs375144225
|
0.00005
|
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00005
|
|
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp)
|
rs587780715
|
0.00005
|
|
NM_000455.5(STK11):c.237C>T (p.Ile79=)
|
rs751859508
|
0.00005
|
|
NM_000455.5(STK11):c.366G>A (p.Lys122=)
|
rs376969448
|
0.00005
|
|
NM_000455.5(STK11):c.375-7G>A
|
rs587781176
|
0.00005
|
|
NM_000455.5(STK11):c.465-5C>T
|
rs567202367
|
0.00005
|
|
NM_000455.5(STK11):c.666C>T (p.Pro222=)
|
rs542189325
|
0.00005
|
|
NM_000455.5(STK11):c.678C>T (p.Asn226=)
|
rs748832988
|
0.00005
|
|
NM_000455.5(STK11):c.920+6C>T
|
rs730881964
|
0.00005
|
|
NM_000455.5(STK11):c.970C>G (p.Pro324Ala)
|
rs549474196
|
0.00005
|
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
|
NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)
|
rs371147849
|
0.00005
|
|
NM_000465.4(BARD1):c.1353A>T (p.Gly451=)
|
rs369564500
|
0.00005
|
|
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)
|
rs587780017
|
0.00005
|
|
NM_000465.4(BARD1):c.1593C>T (p.Val531=)
|
rs564894014
|
0.00005
|
|
NM_000465.4(BARD1):c.1734T>A (p.Ser578=)
|
rs373449212
|
0.00005
|
|
NM_000465.4(BARD1):c.2172G>T (p.Ala724=)
|
rs143331809
|
0.00005
|
|
NM_000465.4(BARD1):c.709C>G (p.Gln237Glu)
|
rs587780035
|
0.00005
|
|
NM_000465.4(BARD1):c.738A>G (p.Pro246=)
|
rs587780859
|
0.00005
|
|
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)
|
rs200059956
|
0.00005
|
|
NM_000465.4(BARD1):c.946T>G (p.Leu316Val)
|
rs587782325
|
0.00005
|
|
NM_000466.3(PEX1):c.2926+1G>A
|
rs267608179
|
0.00005
|
|
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)
|
rs61750427
|
0.00005
|
|
NM_000520.6(HEXA):c.460-1G>T
|
rs764343937
|
0.00005
|
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00005
|
|
NM_000535.7(PMS2):c.738C>G (p.Pro246=)
|
rs202094399
|
0.00005
|
|
NM_000546.6(TP53):c.*6T>A
|
rs369567704
|
0.00005
|
|
NM_000548.5(TSC2):c.1293G>A (p.Ala431=)
|
rs45517162
|
0.00005
|
|
NM_000548.5(TSC2):c.1599+9C>T
|
rs776274603
|
0.00005
|
|
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)
|
rs397515296
|
0.00005
|
|
NM_000548.5(TSC2):c.2220+4C>G
|
rs781186613
|
0.00005
|
|
NM_000548.5(TSC2):c.2392C>T (p.His798Tyr)
|
rs375809212
|
0.00005
|
|
NM_000548.5(TSC2):c.2546-6C>T
|
rs372088609
|
0.00005
|
|
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr)
|
rs759837836
|
0.00005
|
|
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln)
|
rs397515046
|
0.00005
|
|
NM_000548.5(TSC2):c.282G>A (p.Pro94=)
|
rs145624233
|
0.00005
|
|
NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys)
|
rs777089012
|
0.00005
|
|
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=)
|
rs146734084
|
0.00005
|
|
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val)
|
rs397515062
|
0.00005
|
|
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)
|
rs45517333
|
0.00005
|
|
NM_000548.5(TSC2):c.4469A>G (p.Glu1490Gly)
|
rs759882146
|
0.00005
|
|
NM_000548.5(TSC2):c.4610T>C (p.Ile1537Thr)
|
rs760056622
|
0.00005
|
|
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=)
|
rs142085017
|
0.00005
|
|
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His)
|
rs760395277
|
0.00005
|
|
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp)
|
rs45517130
|
0.00005
|
|
NM_000551.4(VHL):c.464-10G>A
|
rs552930903
|
0.00005
|
|
NM_000551.4(VHL):c.552C>T (p.Leu184=)
|
rs779157605
|
0.00005
|
|
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)
|
rs80338859
|
0.00005
|
|
NM_001370259.2(MEN1):c.1032G>A (p.Thr344=)
|
rs760183888
|
0.00005
|
|
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)
|
rs149383809
|
0.00005
|
|
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu)
|
rs199706698
|
0.00005
|
|
NM_002691.4(POLD1):c.1113C>T (p.Tyr371=)
|
rs749234758
|
0.00005
|
|
NM_002691.4(POLD1):c.957C>T (p.Cys319=)
|
rs377300843
|
0.00005
|
|
NM_002878.4(RAD51D):c.145-14G>C
|
rs200470533
|
0.00005
|
|
NM_002878.4(RAD51D):c.346-10C>T
|
rs779972784
|
0.00005
|
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00005
|
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
|
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met)
|
rs61747631
|
0.00005
|
|
NM_004360.5(CDH1):c.1224G>A (p.Ala408=)
|
rs200161607
|
0.00005
|
|
NM_004360.5(CDH1):c.1422C>T (p.Thr474=)
|
rs375843744
|
0.00005
|
|
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser)
|
rs147925149
|
0.00005
|
|
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln)
|
rs587781311
|
0.00005
|
|
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)
|
rs587780119
|
0.00005
|
|
NM_004360.5(CDH1):c.699C>T (p.His233=)
|
rs115494727
|
0.00005
|
|
NM_004655.4(AXIN2):c.2484C>T (p.Leu828=)
|
rs372266221
|
0.00005
|
|
NM_004656.4(BAP1):c.1338C>T (p.Asn446=)
|
rs763735807
|
0.00005
|
|
NM_004656.4(BAP1):c.390G>A (p.Ala130=)
|
rs778350656
|
0.00005
|
|
NM_004656.4(BAP1):c.931+10G>C
|
rs199560386
|
0.00005
|
|
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)
|
rs145183886
|
0.00005
|
|
NM_007194.4(CHEK2):c.633T>C (p.Val211=)
|
rs1555924460
|
0.00005
|
|
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe)
|
rs139207764
|
0.00005
|
|
NM_020975.6(RET):c.1942G>A (p.Val648Ile)
|
rs77711105
|
0.00005
|
|
NM_020975.6(RET):c.2393-9C>T
|
rs567543719
|
0.00005
|
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
|
NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)
|
rs148647206
|
0.00005
|
|
NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)
|
rs142343372
|
0.00005
|
|
NM_024675.4(PALB2):c.2442G>A (p.Glu814=)
|
rs140776736
|
0.00005
|
|
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)
|
rs180177125
|
0.00005
|
|
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile)
|
rs761032954
|
0.00005
|
|
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)
|
rs147045425
|
0.00005
|
|
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=)
|
rs45565738
|
0.00005
|
|
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)
|
rs730881894
|
0.00005
|
|
NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr)
|
rs577651839
|
0.00005
|
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00005
|
|
NM_024675.4(PALB2):c.668T>C (p.Ile223Thr)
|
rs150517167
|
0.00005
|
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00005
|
|
NM_032043.3(BRIP1):c.297C>T (p.Asp99=)
|
rs201617644
|
0.00005
|
|
NM_052845.4(MMAB):c.562G>A (p.Val188Met)
|
rs768176676
|
0.00005
|
|
NM_058216.3(RAD51C):c.336G>A (p.Gly112=)
|
rs746122031
|
0.00005
|
|
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)
|
rs587780255
|
0.00005
|
|
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys)
|
rs367741588
|
0.00005
|
|
NM_144997.7(FLCN):c.1265C>T (p.Pro422Leu)
|
rs565447853
|
0.00005
|
|
NM_144997.7(FLCN):c.1287C>T (p.His429=)
|
rs374707789
|
0.00005
|
|
NM_144997.7(FLCN):c.1389C>T (p.Tyr463=)
|
rs137852929
|
0.00005
|
|
NM_144997.7(FLCN):c.1692C>T (p.His564=)
|
rs201810397
|
0.00005
|
|
NM_144997.7(FLCN):c.346C>A (p.Gln116Lys)
|
rs398124536
|
0.00005
|
|
NM_144997.7(FLCN):c.396+7C>T
|
rs781155484
|
0.00005
|
|
NM_144997.7(FLCN):c.708C>T (p.Asn236=)
|
rs750394475
|
0.00005
|
|
NM_144997.7(FLCN):c.779+10G>A
|
rs376357696
|
0.00005
|
|
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro)
|
rs150051278
|
0.00005
|
|
NM_144997.7(FLCN):c.992C>T (p.Ser331Phe)
|
rs202215080
|
0.00005
|
|
NM_000038.6(APC):c.1242C>T (p.Arg414=)
|
rs751423790
|
0.00004
|
|
NM_000038.6(APC):c.1549-13A>T
|
rs587781267
|
0.00004
|
|
NM_000038.6(APC):c.276C>T (p.Ser92=)
|
rs369238363
|
0.00004
|
|
NM_000038.6(APC):c.2778T>C (p.Ser926=)
|
rs371526966
|
0.00004
|
|
NM_000038.6(APC):c.2820G>A (p.Ser940=)
|
rs780366551
|
0.00004
|
|
NM_000038.6(APC):c.2838A>G (p.Thr946=)
|
rs142835322
|
0.00004
|
|
NM_000038.6(APC):c.317G>A (p.Arg106His)
|
rs201764637
|
0.00004
|
|
NM_000038.6(APC):c.3876G>A (p.Thr1292=)
|
rs377494451
|
0.00004
|
|
NM_000038.6(APC):c.4055T>C (p.Val1352Ala)
|
rs528724202
|
0.00004
|
|
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)
|
rs779898882
|
0.00004
|
|
NM_000038.6(APC):c.449A>G (p.Lys150Arg)
|
rs371085910
|
0.00004
|
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
|
NM_000038.6(APC):c.5571A>C (p.Ser1857=)
|
rs376624613
|
0.00004
|
|
NM_000038.6(APC):c.588C>T (p.Ile196=)
|
rs147846364
|
0.00004
|
|
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)
|
rs372418435
|
0.00004
|
|
NM_000038.6(APC):c.6135C>T (p.Ser2045=)
|
rs187297940
|
0.00004
|
|
NM_000038.6(APC):c.6573A>G (p.Gly2191=)
|
rs553815910
|
0.00004
|
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
|
NM_000038.6(APC):c.7095A>G (p.Ser2365=)
|
rs747844776
|
0.00004
|
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
|
NM_000038.6(APC):c.8061A>G (p.Ser2687=)
|
rs746180965
|
0.00004
|
|
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)
|
rs369721828
|
0.00004
|
|
NM_000038.6(APC):c.8325G>A (p.Gly2775=)
|
rs770719841
|
0.00004
|
|
NM_000038.6(APC):c.995G>A (p.Arg332Gln)
|
rs377665107
|
0.00004
|
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
|
NM_000051.4(ATM):c.2610C>T (p.Asn870=)
|
rs587780618
|
0.00004
|
|
NM_000051.4(ATM):c.3468G>A (p.Thr1156=)
|
rs148358896
|
0.00004
|
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
|
NM_000051.4(ATM):c.4466G>A (p.Arg1489His)
|
rs201594549
|
0.00004
|
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00004
|
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
|
NM_000051.4(ATM):c.6333T>C (p.His2111=)
|
rs55756349
|
0.00004
|
|
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)
|
rs376824528
|
0.00004
|
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
|
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)
|
rs141534716
|
0.00004
|
|
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
|
rs756237962
|
0.00004
|
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
|
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln)
|
rs80358929
|
0.00004
|
|
NM_000143.4(FH):c.1421C>G (p.Thr474Arg)
|
rs369802820
|
0.00004
|
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
|
NM_000153.4(GALC):c.1592G>A (p.Arg531His)
|
rs200378205
|
0.00004
|
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
|
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)
|
rs200938360
|
0.00004
|
|
NM_000179.3(MSH6):c.1776A>T (p.Val592=)
|
rs56132616
|
0.00004
|
|
NM_000179.3(MSH6):c.242C>T (p.Ala81Val)
|
rs587779924
|
0.00004
|
|
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)
|
rs190075874
|
0.00004
|
|
NM_000179.3(MSH6):c.2850C>T (p.Ser950=)
|
rs571394629
|
0.00004
|
|
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
|
rs186240214
|
0.00004
|
|
NM_000179.3(MSH6):c.3557-3A>T
|
rs41295274
|
0.00004
|
|
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=)
|
rs773807182
|
0.00004
|
|
NM_000179.3(MSH6):c.3801+5G>A
|
rs201080919
|
0.00004
|
|
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=)
|
rs2229018
|
0.00004
|
|
NM_000179.3(MSH6):c.3942A>G (p.Gln1314=)
|
rs768042560
|
0.00004
|
|
NM_000179.3(MSH6):c.4001+10dup
|
rs730882138
|
0.00004
|
|
NM_000179.3(MSH6):c.749T>C (p.Val250Ala)
|
rs587781275
|
0.00004
|
|
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)
|
rs876658610
|
0.00004
|
|
NM_000245.4(MET):c.1278C>T (p.Arg426=)
|
rs748508881
|
0.00004
|
|
NM_000245.4(MET):c.1881T>C (p.Gly627=)
|
rs200050499
|
0.00004
|
|
NM_000245.4(MET):c.1992G>A (p.Pro664=)
|
rs373842614
|
0.00004
|
|
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)
|
rs141344760
|
0.00004
|
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
|
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)
|
rs377433038
|
0.00004
|
|
NM_000249.4(MLH1):c.1284T>C (p.Asp428=)
|
rs772555970
|
0.00004
|
|
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)
|
rs63751145
|
0.00004
|
|
NM_000249.4(MLH1):c.1628A>G (p.His543Arg)
|
rs730881742
|
0.00004
|
|
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)
|
rs267607840
|
0.00004
|
|
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)
|
rs63750465
|
0.00004
|
|
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)
|
rs367654552
|
0.00004
|
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
|
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)
|
rs371302926
|
0.00004
|
|
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val)
|
rs748115066
|
0.00004
|
|
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)
|
rs749660228
|
0.00004
|
|
NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)
|
rs63750611
|
0.00004
|
|
NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)
|
rs587779962
|
0.00004
|
|
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)
|
rs63750029
|
0.00004
|
|
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)
|
rs730881777
|
0.00004
|
|
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)
|
rs549467183
|
0.00004
|
|
NM_000251.3(MSH2):c.2516A>G (p.His839Arg)
|
rs63750027
|
0.00004
|
|
NM_000251.3(MSH2):c.2580G>A (p.Ser860=)
|
rs752428475
|
0.00004
|
|
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)
|
rs587779973
|
0.00004
|
|
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)
|
rs767635052
|
0.00004
|
|
NM_000368.5(TSC1):c.1264-9T>C
|
rs1399728684
|
0.00004
|
|
NM_000368.5(TSC1):c.1332A>G (p.Ser444=)
|
rs773003016
|
0.00004
|
|
NM_000368.5(TSC1):c.1884A>G (p.Leu628=)
|
rs1038140620
|
0.00004
|
|
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val)
|
rs118203609
|
0.00004
|
|
NM_000368.5(TSC1):c.2115G>A (p.Glu705=)
|
rs142662480
|
0.00004
|
|
NM_000368.5(TSC1):c.2325C>T (p.Leu775=)
|
rs1005558276
|
0.00004
|
|
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)
|
rs769389702
|
0.00004
|
|
NM_000368.5(TSC1):c.912T>C (p.Tyr304=)
|
rs118203466
|
0.00004
|
|
NM_000368.5(TSC1):c.942G>A (p.Thr314=)
|
rs144208203
|
0.00004
|
|
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)
|
rs1031268531
|
0.00004
|
|
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu)
|
rs398123388
|
0.00004
|
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
|
NM_000455.5(STK11):c.1041G>A (p.Ala347=)
|
rs537906142
|
0.00004
|
|
NM_000455.5(STK11):c.1044C>T (p.Asp348=)
|
rs778274196
|
0.00004
|
|
NM_000455.5(STK11):c.42G>A (p.Glu14=)
|
rs758769888
|
0.00004
|
|
NM_000455.5(STK11):c.432G>A (p.Pro144=)
|
rs376788924
|
0.00004
|
|
NM_000455.5(STK11):c.464+10C>T
|
rs587782445
|
0.00004
|
|
NM_000455.5(STK11):c.612C>T (p.Phe204=)
|
rs774100153
|
0.00004
|
|
NM_000455.5(STK11):c.631C>T (p.Arg211Trp)
|
rs185087320
|
0.00004
|
|
NM_000455.5(STK11):c.723T>C (p.Ala241=)
|
rs533550278
|
0.00004
|
|
NM_000455.5(STK11):c.795G>A (p.Glu265=)
|
rs730881963
|
0.00004
|
|
NM_000455.5(STK11):c.90C>T (p.Asp30=)
|
rs771765869
|
0.00004
|
|
NM_000465.4(BARD1):c.1473G>A (p.Gly491=)
|
rs151080730
|
0.00004
|
|
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala)
|
rs200254470
|
0.00004
|
|
NM_000465.4(BARD1):c.1788A>G (p.Lys596=)
|
rs777084777
|
0.00004
|
|
NM_000465.4(BARD1):c.1904-3C>G
|
rs876660360
|
0.00004
|
|
NM_000465.4(BARD1):c.253G>T (p.Val85Leu)
|
rs370359540
|
0.00004
|
|
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)
|
rs142864491
|
0.00004
|
|
NM_000465.4(BARD1):c.365-7C>T
|
rs745929983
|
0.00004
|
|
NM_000465.4(BARD1):c.581G>A (p.Arg194Lys)
|
rs181748854
|
0.00004
|
|
NM_000465.4(BARD1):c.644A>G (p.Asn215Ser)
|
rs774929973
|
0.00004
|
|
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)
|
rs146223579
|
0.00004
|
|
NM_000465.4(BARD1):c.783A>G (p.Leu261=)
|
rs201862973
|
0.00004
|
|
NM_000465.4(BARD1):c.97G>C (p.Ala33Pro)
|
rs587782465
|
0.00004
|
|
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)
|
rs121918010
|
0.00004
|
|
NM_000481.4(AMT):c.-55C>T
|
rs386833677
|
0.00004
|
|
NM_000535.7(PMS2):c.1936A>C (p.Arg646=)
|
rs369582237
|
0.00004
|
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00004
|
|
NM_000546.6(TP53):c.102C>G (p.Pro34=)
|
rs11575998
|
0.00004
|
|
NM_000546.6(TP53):c.1149C>T (p.Leu383=)
|
rs373710656
|
0.00004
|
|
NM_000546.6(TP53):c.141G>A (p.Pro47=)
|
rs201741778
|
0.00004
|
|
NM_000546.6(TP53):c.255T>C (p.Pro85=)
|
rs775515332
|
0.00004
|
|
NM_000546.6(TP53):c.28G>A (p.Val10Ile)
|
rs535274413
|
0.00004
|
|
NM_000546.6(TP53):c.450A>G (p.Thr150=)
|
rs754020850
|
0.00004
|
|
NM_000546.6(TP53):c.504C>T (p.His168=)
|
rs746293837
|
0.00004
|
|
NM_000546.6(TP53):c.554G>A (p.Ser185Asn)
|
rs150607408
|
0.00004
|
|
NM_000546.6(TP53):c.612G>A (p.Glu204=)
|
rs749629973
|
0.00004
|
|
NM_000546.6(TP53):c.787A>G (p.Asn263Asp)
|
rs72661119
|
0.00004
|
|
NM_000546.6(TP53):c.998G>A (p.Arg333His)
|
rs573154688
|
0.00004
|
|
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu)
|
rs587778728
|
0.00004
|
|
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr)
|
rs760896048
|
0.00004
|
|
NM_000548.5(TSC2):c.1730C>T (p.Thr577Ile)
|
rs770895919
|
0.00004
|
|
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val)
|
rs371074761
|
0.00004
|
|
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln)
|
rs45517206
|
0.00004
|
|
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser)
|
rs137854168
|
0.00004
|
|
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu)
|
rs397515288
|
0.00004
|
|
NM_000548.5(TSC2):c.2163G>A (p.Val721=)
|
rs552644975
|
0.00004
|
|
NM_000548.5(TSC2):c.2742+6C>T
|
rs377568673
|
0.00004
|
|
NM_000548.5(TSC2):c.2859C>T (p.Pro953=)
|
rs397514968
|
0.00004
|
|
NM_000548.5(TSC2):c.2887G>A (p.Val963Met)
|
rs45517275
|
0.00004
|
|
NM_000548.5(TSC2):c.2926C>T (p.Arg976Trp)
|
rs769527912
|
0.00004
|
|
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro)
|
rs397515306
|
0.00004
|
|
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=)
|
rs374145104
|
0.00004
|
|
NM_000548.5(TSC2):c.3275C>T (p.Pro1092Leu)
|
rs587781774
|
0.00004
|
|
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His)
|
rs369536711
|
0.00004
|
|
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile)
|
rs201135184
|
0.00004
|
|
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg)
|
rs45462593
|
0.00004
|
|
NM_000548.5(TSC2):c.4299G>A (p.Ser1433=)
|
rs749358180
|
0.00004
|
|
NM_000548.5(TSC2):c.4852G>A (p.Val1618Ile)
|
rs377129517
|
0.00004
|
|
NM_000548.5(TSC2):c.5010C>T (p.His1670=)
|
rs376306544
|
0.00004
|
|
NM_000548.5(TSC2):c.5161-4C>G
|
rs45517406
|
0.00004
|
|
NM_000548.5(TSC2):c.5307C>T (p.His1769=)
|
rs562220073
|
0.00004
|
|
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=)
|
rs370820622
|
0.00004
|
|
NM_000548.5(TSC2):c.585C>T (p.Ile195=)
|
rs397515309
|
0.00004
|
|
NM_000548.5(TSC2):c.989C>T (p.Pro330Leu)
|
rs140910086
|
0.00004
|
|
NM_000551.4(VHL):c.114C>T (p.Ser38=)
|
rs417164
|
0.00004
|
|
NM_000551.4(VHL):c.119C>T (p.Pro40Leu)
|
rs200343185
|
0.00004
|
|
NM_000551.4(VHL):c.213C>T (p.Pro71=)
|
rs201663073
|
0.00004
|
|
NM_000551.4(VHL):c.555C>T (p.Tyr185=)
|
rs864622109
|
0.00004
|
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
|
NM_000551.4(VHL):c.631A>C (p.Met211Leu)
|
rs200019083
|
0.00004
|
|
NM_000551.4(VHL):c.639T>C (p.Asp213=)
|
rs775624944
|
0.00004
|
|
NM_001040108.2(MLH3):c.598C>T (p.Gln200Ter)
|
rs1039843487
|
0.00004
|
|
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)
|
rs1311193836
|
0.00004
|
|
NM_001164508.2(NEB):c.9619-2A>G
|
rs375145370
|
0.00004
|
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
|
NM_001370259.2(MEN1):c.1401C>T (p.Ala467=)
|
rs878855190
|
0.00004
|
|
NM_001370259.2(MEN1):c.1518C>T (p.Thr506=)
|
rs749265222
|
0.00004
|
|
NM_001370259.2(MEN1):c.1800G>T (p.Leu600=)
|
rs148825200
|
0.00004
|
|
NM_001370259.2(MEN1):c.375A>T (p.Ile125=)
|
rs184896922
|
0.00004
|
|
NM_001370259.2(MEN1):c.531G>A (p.Leu177=)
|
rs146568011
|
0.00004
|
|
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)
|
rs541476418
|
0.00004
|
|
NM_001370259.2(MEN1):c.642T>C (p.Gly214=)
|
rs931878410
|
0.00004
|
|
NM_001370259.2(MEN1):c.753C>T (p.Thr251=)
|
rs763326062
|
0.00004
|
|
NM_001370259.2(MEN1):c.784-10C>T
|
rs71526470
|
0.00004
|
|
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)
|
rs753029097
|
0.00004
|
|
NM_002691.4(POLD1):c.1243-15G>T
|
rs3218763
|
0.00004
|
|
NM_002691.4(POLD1):c.1383+8C>T
|
rs374719944
|
0.00004
|
|
NM_002691.4(POLD1):c.841-5C>T
|
rs530091118
|
0.00004
|
|
NM_002691.4(POLD1):c.846G>A (p.Thr282=)
|
rs780498642
|
0.00004
|
|
NM_002691.4(POLD1):c.999T>C (p.Pro333=)
|
rs376978864
|
0.00004
|
|
NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp)
|
rs544654228
|
0.00004
|
|
NM_004168.4(SDHA):c.1410C>T (p.Ser470=)
|
rs556476038
|
0.00004
|
|
NM_004168.4(SDHA):c.513T>C (p.Arg171=)
|
rs765157205
|
0.00004
|
|
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys)
|
rs587781332
|
0.00004
|
|
NM_004329.3(BMPR1A):c.1401C>T (p.Tyr467=)
|
rs149787558
|
0.00004
|
|
NM_004329.3(BMPR1A):c.1474-9A>G
|
rs372031054
|
0.00004
|
|
NM_004360.5(CDH1):c.1161C>T (p.Asn387=)
|
rs111266450
|
0.00004
|
|
NM_004360.5(CDH1):c.1392C>T (p.Val464=)
|
rs373811706
|
0.00004
|
|
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr)
|
rs201637081
|
0.00004
|
|
NM_004360.5(CDH1):c.213C>T (p.Leu71=)
|
rs376667778
|
0.00004
|
|
NM_004360.5(CDH1):c.2165-15C>A
|
rs552874184
|
0.00004
|
|
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln)
|
rs530717933
|
0.00004
|
|
NM_004360.5(CDH1):c.2280C>T (p.Gly760=)
|
rs768547540
|
0.00004
|
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
|
NM_004360.5(CDH1):c.2637C>T (p.Gly879=)
|
rs141001592
|
0.00004
|
|
NM_004360.5(CDH1):c.375C>A (p.Pro125=)
|
rs773044699
|
0.00004
|
|
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)
|
rs746703615
|
0.00004
|
|
NM_004360.5(CDH1):c.780C>T (p.Pro260=)
|
rs765090311
|
0.00004
|
|
NM_004360.5(CDH1):c.84C>T (p.Cys28=)
|
rs587780789
|
0.00004
|
|
NM_004655.4(AXIN2):c.2004G>A (p.Gly668=)
|
rs144092307
|
0.00004
|
|
NM_004655.4(AXIN2):c.2130C>A (p.Pro710=)
|
rs760740780
|
0.00004
|
|
NM_004655.4(AXIN2):c.2187T>A (p.Thr729=)
|
rs760974572
|
0.00004
|
|
NM_004655.4(AXIN2):c.2379G>A (p.Glu793=)
|
rs1367633896
|
0.00004
|
|
NM_004655.4(AXIN2):c.84G>A (p.Gly28=)
|
rs1156549662
|
0.00004
|
|
NM_004655.4(AXIN2):c.888C>T (p.Ser296=)
|
rs755968982
|
0.00004
|
|
NM_004656.4(BAP1):c.1045A>G (p.Asn349Asp)
|
rs765742255
|
0.00004
|
|
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys)
|
rs201844078
|
0.00004
|
|
NM_004656.4(BAP1):c.1216G>A (p.Glu406Lys)
|
rs748928044
|
0.00004
|
|
NM_004656.4(BAP1):c.1227G>C (p.Val409=)
|
rs201203425
|
0.00004
|
|
NM_004656.4(BAP1):c.141C>T (p.Ile47=)
|
rs973389335
|
0.00004
|
|
NM_004656.4(BAP1):c.1461C>T (p.Thr487=)
|
rs762466375
|
0.00004
|
|
NM_004656.4(BAP1):c.1497C>T (p.Ile499=)
|
rs777417522
|
0.00004
|
|
NM_004656.4(BAP1):c.1725G>A (p.Leu575=)
|
rs748508800
|
0.00004
|
|
NM_004656.4(BAP1):c.1797G>A (p.Val599=)
|
rs372576765
|
0.00004
|
|
NM_004656.4(BAP1):c.1810G>A (p.Val604Met)
|
rs369065146
|
0.00004
|
|
NM_004656.4(BAP1):c.1891-20G>C
|
rs375522429
|
0.00004
|
|
NM_004656.4(BAP1):c.1931C>T (p.Ala644Val)
|
rs551399575
|
0.00004
|
|
NM_004656.4(BAP1):c.206C>T (p.Thr69Met)
|
rs572063023
|
0.00004
|
|
NM_004656.4(BAP1):c.384A>C (p.Gly128=)
|
rs777514791
|
0.00004
|
|
NM_004656.4(BAP1):c.681C>T (p.Arg227=)
|
rs772237661
|
0.00004
|
|
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu)
|
rs777664260
|
0.00004
|
|
NM_004656.4(BAP1):c.916G>A (p.Glu306Lys)
|
rs779566198
|
0.00004
|
|
NM_004656.4(BAP1):c.944A>C (p.Glu315Ala)
|
rs149974450
|
0.00004
|
|
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=)
|
rs145097078
|
0.00004
|
|
NM_005359.6(SMAD4):c.1608A>G (p.Leu536=)
|
rs753128184
|
0.00004
|
|
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)
|
rs199526820
|
0.00004
|
|
NM_005359.6(SMAD4):c.228A>G (p.Arg76=)
|
rs587780556
|
0.00004
|
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00004
|
|
NM_006231.4(POLE):c.1014C>T (p.Pro338=)
|
rs143102561
|
0.00004
|
|
NM_006231.4(POLE):c.1296A>G (p.Leu432=)
|
rs142624113
|
0.00004
|
|
NM_006231.4(POLE):c.1467C>T (p.Pro489=)
|
rs995585765
|
0.00004
|
|
NM_006231.4(POLE):c.828T>C (p.Ile276=)
|
rs878854897
|
0.00004
|
|
NM_006231.4(POLE):c.834G>A (p.Thr278=)
|
rs758368160
|
0.00004
|
|
NM_006231.4(POLE):c.912C>T (p.Gly304=)
|
rs1064794932
|
0.00004
|
|
NM_006361.6(HOXB13):c.177G>A (p.Pro59=)
|
rs779780541
|
0.00004
|
|
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)
|
rs201544715
|
0.00004
|
|
NM_007194.4(CHEK2):c.1065G>A (p.Leu355=)
|
rs938389349
|
0.00004
|
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
|
NM_007194.4(CHEK2):c.150C>T (p.Ser50=)
|
rs967317594
|
0.00004
|
|
NM_007194.4(CHEK2):c.400G>C (p.Asp134His)
|
rs372874441
|
0.00004
|
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
|
NM_007294.4(BRCA1):c.-19-3A>G
|
rs273898669
|
0.00004
|
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
|
NM_020975.6(RET):c.1891G>A (p.Asp631Asn)
|
rs377767406
|
0.00004
|
|
NM_020975.6(RET):c.2298G>A (p.Pro766=)
|
rs140658743
|
0.00004
|
|
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)
|
rs377767417
|
0.00004
|
|
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)
|
rs34617196
|
0.00004
|
|
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)
|
rs373483056
|
0.00004
|
|
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)
|
rs201035780
|
0.00004
|
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00004
|
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
|
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr)
|
rs756116550
|
0.00004
|
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
|
NM_024675.4(PALB2):c.2067G>A (p.Ser689=)
|
rs371149159
|
0.00004
|
|
NM_024675.4(PALB2):c.2082A>G (p.Thr694=)
|
rs781440401
|
0.00004
|
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
rs376641234
|
0.00004
|
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
|
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=)
|
rs141570833
|
0.00004
|
|
NM_024675.4(PALB2):c.339A>C (p.Pro113=)
|
rs376182266
|
0.00004
|
|
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)
|
rs778309339
|
0.00004
|
|
NM_024675.4(PALB2):c.900A>G (p.Thr300=)
|
rs771660444
|
0.00004
|
|
NM_031885.5(BBS2):c.534+1G>T
|
rs773862084
|
0.00004
|
|
NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=)
|
rs776990704
|
0.00004
|
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
|
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)
|
rs121908640
|
0.00004
|
|
NM_058216.3(RAD51C):c.635G>A (p.Arg212His)
|
rs200857129
|
0.00004
|
|
NM_058216.3(RAD51C):c.721G>A (p.Val241Met)
|
rs184033132
|
0.00004
|
|
NM_058216.3(RAD51C):c.774del (p.Thr259fs)
|
rs754367349
|
0.00004
|
|
NM_144997.7(FLCN):c.1068G>T (p.Leu356=)
|
rs534904034
|
0.00004
|
|
NM_144997.7(FLCN):c.1216A>G (p.Ser406Gly)
|
rs528541881
|
0.00004
|
|
NM_144997.7(FLCN):c.1418T>C (p.Val473Ala)
|
rs144883828
|
0.00004
|
|
NM_144997.7(FLCN):c.1428C>G (p.Asp476Glu)
|
rs756944795
|
0.00004
|
|
NM_144997.7(FLCN):c.1513G>A (p.Val505Ile)
|
rs376715412
|
0.00004
|
|
NM_144997.7(FLCN):c.645C>T (p.Cys215=)
|
rs772360950
|
0.00004
|
|
NM_144997.7(FLCN):c.711C>T (p.Ala237=)
|
rs111258744
|
0.00004
|
|
NM_144997.7(FLCN):c.716G>A (p.Arg239His)
|
rs753948488
|
0.00004
|
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
|
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)
|
rs118204018
|
0.00003
|
|
NM_000018.4(ACADVL):c.957G>A (p.Ser319=)
|
rs143870522
|
0.00003
|
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
|
NM_000035.4(ALDOB):c.-11+1G>C
|
rs181639417
|
0.00003
|
|
NM_000038.6(APC):c.1023A>G (p.Gln341=)
|
rs774764623
|
0.00003
|
|
NM_000038.6(APC):c.1158A>G (p.Ala386=)
|
rs370669642
|
0.00003
|
|
NM_000038.6(APC):c.1392T>C (p.His464=)
|
rs1057524073
|
0.00003
|
|
NM_000038.6(APC):c.1405C>T (p.Leu469=)
|
rs746293695
|
0.00003
|
|
NM_000038.6(APC):c.1495C>G (p.Arg499Gly)
|
rs137854580
|
0.00003
|
|
NM_000038.6(APC):c.1557A>G (p.Leu519=)
|
rs765537673
|
0.00003
|
|
NM_000038.6(APC):c.1685C>T (p.Thr562Met)
|
rs587783034
|
0.00003
|
|
NM_000038.6(APC):c.1686G>A (p.Thr562=)
|
rs770256026
|
0.00003
|
|
NM_000038.6(APC):c.1761C>T (p.Ser587=)
|
rs370783137
|
0.00003
|
|
NM_000038.6(APC):c.2090C>T (p.Ala697Val)
|
rs761733547
|
0.00003
|
|
NM_000038.6(APC):c.2148A>G (p.Lys716=)
|
rs764733890
|
0.00003
|
|
NM_000038.6(APC):c.2297C>T (p.Ala766Val)
|
rs200339830
|
0.00003
|
|
NM_000038.6(APC):c.2627G>A (p.Arg876Gln)
|
rs373428732
|
0.00003
|
|
NM_000038.6(APC):c.2754G>A (p.Glu918=)
|
rs767066195
|
0.00003
|
|
NM_000038.6(APC):c.2946G>A (p.Ser982=)
|
rs377384463
|
0.00003
|
|
NM_000038.6(APC):c.3529A>G (p.Ile1177Val)
|
rs369834416
|
0.00003
|
|
NM_000038.6(APC):c.3750A>G (p.Lys1250=)
|
rs142728143
|
0.00003
|
|
NM_000038.6(APC):c.3933T>C (p.Ile1311=)
|
rs201706728
|
0.00003
|
|
NM_000038.6(APC):c.4251T>C (p.Ile1417=)
|
rs758171294
|
0.00003
|
|
NM_000038.6(APC):c.4334C>T (p.Thr1445Ile)
|
rs760686348
|
0.00003
|
|
NM_000038.6(APC):c.4344C>T (p.Thr1448=)
|
rs864622562
|
0.00003
|
|
NM_000038.6(APC):c.4416A>T (p.Val1472=)
|
rs773352404
|
0.00003
|
|
NM_000038.6(APC):c.477C>T (p.Tyr159=)
|
rs863224281
|
0.00003
|
|
NM_000038.6(APC):c.5181C>T (p.Cys1727=)
|
rs1554086499
|
0.00003
|
|
NM_000038.6(APC):c.5257G>C (p.Ala1753Pro)
|
rs587781350
|
0.00003
|
|
NM_000038.6(APC):c.555C>G (p.Thr185=)
|
rs1287296038
|
0.00003
|
|
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)
|
rs587779799
|
0.00003
|
|
NM_000038.6(APC):c.5715A>G (p.Gln1905=)
|
rs779869418
|
0.00003
|
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
|
NM_000038.6(APC):c.6381A>G (p.Gln2127=)
|
rs765256868
|
0.00003
|
|
NM_000038.6(APC):c.647G>A (p.Arg216Gln)
|
rs76685252
|
0.00003
|
|
NM_000038.6(APC):c.6642A>G (p.Lys2214=)
|
rs1580673127
|
0.00003
|
|
NM_000038.6(APC):c.6750C>T (p.Gly2250=)
|
rs555799753
|
0.00003
|
|
NM_000038.6(APC):c.6945A>G (p.Gln2315=)
|
rs786201348
|
0.00003
|
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
|
NM_000038.6(APC):c.7146A>T (p.Thr2382=)
|
rs780566379
|
0.00003
|
|
NM_000038.6(APC):c.7150T>A (p.Leu2384Ile)
|
rs755345693
|
0.00003
|
|
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)
|
rs730881257
|
0.00003
|
|
NM_000038.6(APC):c.7209G>A (p.Gln2403=)
|
rs769603145
|
0.00003
|
|
NM_000038.6(APC):c.7278A>G (p.Gly2426=)
|
rs756770951
|
0.00003
|
|
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)
|
rs200399245
|
0.00003
|
|
NM_000038.6(APC):c.756C>T (p.Thr252=)
|
rs771535363
|
0.00003
|
|
NM_000038.6(APC):c.757G>A (p.Gly253Ser)
|
rs772806807
|
0.00003
|
|
NM_000038.6(APC):c.7872T>C (p.Asn2624=)
|
rs1298254479
|
0.00003
|
|
NM_000038.6(APC):c.792A>G (p.Gln264=)
|
rs863224288
|
0.00003
|
|
NM_000038.6(APC):c.8010A>G (p.Arg2670=)
|
rs786201524
|
0.00003
|
|
NM_000038.6(APC):c.8250G>A (p.Glu2750=)
|
rs767530768
|
0.00003
|
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
|
NM_000038.6(APC):c.848G>A (p.Arg283Gln)
|
rs149154604
|
0.00003
|
|
NM_000038.6(APC):c.948T>C (p.Tyr316=)
|
rs748010172
|
0.00003
|
|
NM_000051.4(ATM):c.1368A>G (p.Leu456=)
|
rs750579940
|
0.00003
|
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
|
NM_000051.4(ATM):c.2697C>T (p.Asp899=)
|
rs786202978
|
0.00003
|
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00003
|
|
NM_000051.4(ATM):c.2838+9C>G
|
rs370160823
|
0.00003
|
|
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)
|
rs370282831
|
0.00003
|
|
NM_000051.4(ATM):c.3354A>G (p.Thr1118=)
|
rs377316982
|
0.00003
|
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00003
|
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
|
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)
|
rs730881311
|
0.00003
|
|
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)
|
rs730881383
|
0.00003
|
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00003
|
|
NM_000051.4(ATM):c.7999A>G (p.Met2667Val)
|
rs34099398
|
0.00003
|
|
NM_000051.4(ATM):c.8100A>G (p.Lys2700=)
|
rs778601472
|
0.00003
|
|
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val)
|
rs368666328
|
0.00003
|
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
|
NM_000059.4(BRCA2):c.2561A>G (p.Asn854Ser)
|
rs80358520
|
0.00003
|
|
NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn)
|
rs539613324
|
0.00003
|
|
NM_000059.4(BRCA2):c.5342A>G (p.Asp1781Gly)
|
rs80358756
|
0.00003
|
|
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)
|
rs80359143
|
0.00003
|
|
NM_000059.4(BRCA2):c.9820T>G (p.Leu3274Val)
|
rs80359244
|
0.00003
|
|
NM_000075.4(CDK4):c.549C>T (p.Pro183=)
|
rs778696237
|
0.00003
|
|
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys)
|
rs757328549
|
0.00003
|
|
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln)
|
rs764849762
|
0.00003
|
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
|
NM_000143.4(FH):c.1428C>T (p.His476=)
|
rs199887605
|
0.00003
|
|
NM_000143.4(FH):c.358A>G (p.Ile120Val)
|
rs199641124
|
0.00003
|
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
|
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00003
|
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
|
NM_000179.3(MSH6):c.1120_1122del (p.Lys374del)
|
rs587781660
|
0.00003
|
|
NM_000179.3(MSH6):c.1167C>T (p.Pro389=)
|
rs1042819
|
0.00003
|
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
|
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)
|
rs41295270
|
0.00003
|
|
NM_000179.3(MSH6):c.2319C>T (p.Leu773=)
|
rs63749895
|
0.00003
|
|
NM_000179.3(MSH6):c.240A>G (p.Val80=)
|
rs864622281
|
0.00003
|
|
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)
|
rs587779926
|
0.00003
|
|
NM_000179.3(MSH6):c.2904C>G (p.Val968=)
|
rs150683226
|
0.00003
|
|
NM_000179.3(MSH6):c.3026A>T (p.Lys1009Ile)
|
rs587781593
|
0.00003
|
|
NM_000179.3(MSH6):c.3071G>A (p.Arg1024Gln)
|
rs372705506
|
0.00003
|
|
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)
|
rs63750253
|
0.00003
|
|
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=)
|
rs747771350
|
0.00003
|
|
NM_000179.3(MSH6):c.364G>A (p.Glu122Lys)
|
rs143036974
|
0.00003
|
|
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)
|
rs367912290
|
0.00003
|
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00003
|
|
NM_000179.3(MSH6):c.393A>C (p.Val131=)
|
rs752488540
|
0.00003
|
|
NM_000179.3(MSH6):c.4002-14T>C
|
rs587781041
|
0.00003
|
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00003
|
|
NM_000245.4(MET):c.639G>A (p.Ser213=)
|
rs587780738
|
0.00003
|
|
NM_000249.4(MLH1):c.116+5G>A
|
rs267607710
|
0.00003
|
|
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp)
|
rs61751644
|
0.00003
|
|
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)
|
rs771044689
|
0.00003
|
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00003
|
|
NM_000249.4(MLH1):c.1667+4A>G
|
rs983986337
|
0.00003
|
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
|
NM_000249.4(MLH1):c.1743G>A (p.Pro581=)
|
rs567838745
|
0.00003
|
|
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)
|
rs63750952
|
0.00003
|
|
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)
|
rs63750809
|
0.00003
|
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00003
|
|
NM_000249.4(MLH1):c.371G>A (p.Cys124Tyr)
|
rs730881736
|
0.00003
|
|
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn)
|
rs200076893
|
0.00003
|
|
NM_000249.4(MLH1):c.539T>G (p.Val180Gly)
|
rs63750102
|
0.00003
|
|
NM_000249.4(MLH1):c.579A>G (p.Ser193=)
|
rs587781038
|
0.00003
|
|
NM_000249.4(MLH1):c.791-14T>C
|
rs751254837
|
0.00003
|
|
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys)
|
rs550914672
|
0.00003
|
|
NM_000249.4(MLH1):c.9C>G (p.Phe3Leu)
|
rs779759678
|
0.00003
|
|
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)
|
rs752373431
|
0.00003
|
|
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)
|
rs63751412
|
0.00003
|
|
NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys)
|
rs876658187
|
0.00003
|
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
|
NM_000251.3(MSH2):c.1530G>C (p.Gln510His)
|
rs587782355
|
0.00003
|
|
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)
|
rs587778523
|
0.00003
|
|
NM_000251.3(MSH2):c.1760-16T>G
|
rs768370188
|
0.00003
|
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
|
NM_000251.3(MSH2):c.211+8C>T
|
rs267607916
|
0.00003
|
|
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)
|
rs373226409
|
0.00003
|
|
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)
|
rs533553381
|
0.00003
|
|
NM_000251.3(MSH2):c.2211-5T>G
|
rs368596736
|
0.00003
|
|
NM_000251.3(MSH2):c.2458+8C>G
|
rs189025757
|
0.00003
|
|
NM_000251.3(MSH2):c.2517T>A (p.His839Gln)
|
rs267608016
|
0.00003
|
|
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)
|
rs63750797
|
0.00003
|
|
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys)
|
rs587781447
|
0.00003
|
|
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)
|
rs587779969
|
0.00003
|
|
NM_000251.3(MSH2):c.336C>A (p.Ser112=)
|
rs34312619
|
0.00003
|
|
NM_000251.3(MSH2):c.399C>T (p.Asp133=)
|
rs61756462
|
0.00003
|
|
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)
|
rs750746034
|
0.00003
|
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
|
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys)
|
rs63750732
|
0.00003
|
|
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp)
|
rs267607938
|
0.00003
|
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
|
NM_000303.3(PMM2):c.640-9T>G
|
rs370160676
|
0.00003
|
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
|
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys)
|
rs1044429462
|
0.00003
|
|
NM_000359.3(TGM1):c.876+2T>C
|
rs151054393
|
0.00003
|
|
NM_000368.5(TSC1):c.114C>G (p.Gly38=)
|
rs776158461
|
0.00003
|
|
NM_000368.5(TSC1):c.1317G>C (p.Leu439=)
|
rs770692313
|
0.00003
|
|
NM_000368.5(TSC1):c.1334-16C>T
|
rs373774544
|
0.00003
|
|
NM_000368.5(TSC1):c.1344T>G (p.Pro448=)
|
rs530908428
|
0.00003
|
|
NM_000368.5(TSC1):c.1439-4T>C
|
rs762473323
|
0.00003
|
|
NM_000368.5(TSC1):c.1506C>T (p.Gly502=)
|
rs772337076
|
0.00003
|
|
NM_000368.5(TSC1):c.1584C>T (p.Gly528=)
|
rs149439187
|
0.00003
|
|
NM_000368.5(TSC1):c.1635T>C (p.Pro545=)
|
rs372284519
|
0.00003
|
|
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly)
|
rs377185303
|
0.00003
|
|
NM_000368.5(TSC1):c.1721C>G (p.Thr574Ser)
|
rs548002938
|
0.00003
|
|
NM_000368.5(TSC1):c.1878G>A (p.Glu626=)
|
rs753424167
|
0.00003
|
|
NM_000368.5(TSC1):c.211-18G>C
|
rs751712867
|
0.00003
|
|
NM_000368.5(TSC1):c.2478G>C (p.Leu826=)
|
rs149719514
|
0.00003
|
|
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser)
|
rs76801599
|
0.00003
|
|
NM_000368.5(TSC1):c.2700G>A (p.Gln900=)
|
rs560986491
|
0.00003
|
|
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=)
|
rs201192125
|
0.00003
|
|
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)
|
rs201867031
|
0.00003
|
|
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly)
|
rs768624733
|
0.00003
|
|
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)
|
rs118203400
|
0.00003
|
|
NM_000368.5(TSC1):c.65G>A (p.Arg22Gln)
|
rs141736779
|
0.00003
|
|
NM_000368.5(TSC1):c.840A>G (p.Gln280=)
|
rs1171852730
|
0.00003
|
|
NM_000368.5(TSC1):c.87T>C (p.Phe29=)
|
rs745384145
|
0.00003
|
|
NM_000368.5(TSC1):c.932C>G (p.Pro311Arg)
|
rs776158460
|
0.00003
|
|
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)
|
rs72547571
|
0.00003
|
|
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)
|
rs398123351
|
0.00003
|
|
NM_000426.4(LAMA2):c.4960-17C>A
|
rs758048596
|
0.00003
|
|
NM_000455.5(STK11):c.1020C>T (p.Tyr340=)
|
rs786202471
|
0.00003
|
|
NM_000455.5(STK11):c.1035C>T (p.His345=)
|
rs751619208
|
0.00003
|
|
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)
|
rs369744528
|
0.00003
|
|
NM_000455.5(STK11):c.1060T>C (p.Phe354Leu)
|
rs1057520018
|
0.00003
|
|
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile)
|
rs587778695
|
0.00003
|
|
NM_000455.5(STK11):c.1100C>T (p.Thr367Met)
|
rs587782835
|
0.00003
|
|
NM_000455.5(STK11):c.1109-5C>T
|
rs587782020
|
0.00003
|
|
NM_000455.5(STK11):c.1130C>T (p.Ala377Val)
|
rs199973552
|
0.00003
|
|
NM_000455.5(STK11):c.1200G>A (p.Leu400=)
|
rs368661707
|
0.00003
|
|
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln)
|
rs587782364
|
0.00003
|
|
NM_000455.5(STK11):c.1258G>T (p.Ala420Ser)
|
rs762482152
|
0.00003
|
|
NM_000455.5(STK11):c.1263C>T (p.Ser421=)
|
rs1472814508
|
0.00003
|
|
NM_000455.5(STK11):c.306G>C (p.Leu102=)
|
rs370130178
|
0.00003
|
|
NM_000455.5(STK11):c.374+9T>A
|
rs762297795
|
0.00003
|
|
NM_000455.5(STK11):c.439C>T (p.Arg147Cys)
|
rs748464757
|
0.00003
|
|
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)
|
rs587781515
|
0.00003
|
|
NM_000455.5(STK11):c.57G>C (p.Ser19=)
|
rs748698151
|
0.00003
|
|
NM_000455.5(STK11):c.588C>T (p.Gly196=)
|
rs769309428
|
0.00003
|
|
NM_000455.5(STK11):c.601C>T (p.Leu201=)
|
rs1490445170
|
0.00003
|
|
NM_000455.5(STK11):c.613G>A (p.Ala205Thr)
|
rs730881981
|
0.00003
|
|
NM_000455.5(STK11):c.615G>A (p.Ala205=)
|
rs532889728
|
0.00003
|
|
NM_000455.5(STK11):c.621C>T (p.Asp207=)
|
rs569380138
|
0.00003
|
|
NM_000455.5(STK11):c.651G>A (p.Pro217=)
|
rs368348370
|
0.00003
|
|
NM_000455.5(STK11):c.827G>T (p.Gly276Val)
|
rs749927908
|
0.00003
|
|
NM_000455.5(STK11):c.828C>T (p.Gly276=)
|
rs200824447
|
0.00003
|
|
NM_000455.5(STK11):c.846C>T (p.Leu282=)
|
rs777872290
|
0.00003
|
|
NM_000455.5(STK11):c.876C>T (p.Tyr292=)
|
rs148928808
|
0.00003
|
|
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)
|
rs201032007
|
0.00003
|
|
NM_000465.4(BARD1):c.1052C>T (p.Thr351Met)
|
rs767208122
|
0.00003
|
|
NM_000465.4(BARD1):c.1067A>T (p.Asn356Ile)
|
rs577834428
|
0.00003
|
|
NM_000465.4(BARD1):c.1533G>A (p.Lys511=)
|
rs371785856
|
0.00003
|
|
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)
|
rs370771157
|
0.00003
|
|
NM_000465.4(BARD1):c.1904-5G>A
|
rs376639978
|
0.00003
|
|
NM_000465.4(BARD1):c.2160C>G (p.Val720=)
|
rs137888190
|
0.00003
|
|
NM_000465.4(BARD1):c.2179G>A (p.Asp727Asn)
|
rs730881424
|
0.00003
|
|
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)
|
rs879253880
|
0.00003
|
|
NM_000465.4(BARD1):c.2280G>A (p.Ser760=)
|
rs749959440
|
0.00003
|
|
NM_000465.4(BARD1):c.48C>T (p.Ser16=)
|
rs770753803
|
0.00003
|
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
|
NM_000465.4(BARD1):c.729T>C (p.Cys243=)
|
rs761986980
|
0.00003
|
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
|
NM_000535.7(PMS2):c.1096G>C (p.Asp366His)
|
rs141769057
|
0.00003
|
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00003
|
|
NM_000546.6(TP53):c.1119G>A (p.Lys373=)
|
rs1342613419
|
0.00003
|
|
NM_000546.6(TP53):c.1149C>A (p.Leu383=)
|
rs373710656
|
0.00003
|
|
NM_000546.6(TP53):c.168A>G (p.Glu56=)
|
rs574255227
|
0.00003
|
|
NM_000546.6(TP53):c.180A>C (p.Pro60=)
|
rs749289195
|
0.00003
|
|
NM_000546.6(TP53):c.214C>G (p.Pro72Ala)
|
rs587782769
|
0.00003
|
|
NM_000546.6(TP53):c.246G>A (p.Pro82=)
|
rs372397095
|
0.00003
|
|
NM_000546.6(TP53):c.329G>A (p.Arg110His)
|
rs11540654
|
0.00003
|
|
NM_000546.6(TP53):c.459C>T (p.Pro153=)
|
rs72661116
|
0.00003
|
|
NM_000546.6(TP53):c.509C>T (p.Thr170Met)
|
rs779000871
|
0.00003
|
|
NM_000548.5(TSC2):c.1059C>T (p.Leu353=)
|
rs796053472
|
0.00003
|
|
NM_000548.5(TSC2):c.108G>A (p.Thr36=)
|
rs781075483
|
0.00003
|
|
NM_000548.5(TSC2):c.1095C>T (p.Ile365=)
|
rs757135168
|
0.00003
|
|
NM_000548.5(TSC2):c.1150G>A (p.Val384Ile)
|
rs397514881
|
0.00003
|
|
NM_000548.5(TSC2):c.1317C>T (p.Asp439=)
|
rs777457815
|
0.00003
|
|
NM_000548.5(TSC2):c.1600-10C>T
|
rs768188836
|
0.00003
|
|
NM_000548.5(TSC2):c.1600-9T>C
|
rs886043268
|
0.00003
|
|
NM_000548.5(TSC2):c.1627C>T (p.Pro543Ser)
|
rs1060500944
|
0.00003
|
|
NM_000548.5(TSC2):c.1775G>A (p.Ser592Asn)
|
rs374371998
|
0.00003
|
|
NM_000548.5(TSC2):c.1815A>G (p.Pro605=)
|
rs961687056
|
0.00003
|
|
NM_000548.5(TSC2):c.1840-14C>T
|
rs539450042
|
0.00003
|
|
NM_000548.5(TSC2):c.2013C>A (p.Gly671=)
|
rs566848799
|
0.00003
|
|
NM_000548.5(TSC2):c.2019G>A (p.Ala673=)
|
rs772993105
|
0.00003
|
|
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser)
|
rs562945619
|
0.00003
|
|
NM_000548.5(TSC2):c.2545+9C>G
|
rs369385105
|
0.00003
|
|
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala)
|
rs781713438
|
0.00003
|
|
NM_000548.5(TSC2):c.2743-11C>T
|
rs137854426
|
0.00003
|
|
NM_000548.5(TSC2):c.2760C>A (p.Val920=)
|
rs149490538
|
0.00003
|
|
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)
|
rs375824753
|
0.00003
|
|
NM_000548.5(TSC2):c.3210G>A (p.Thr1070=)
|
rs539927192
|
0.00003
|
|
NM_000548.5(TSC2):c.3240A>G (p.Leu1080=)
|
rs371514669
|
0.00003
|
|
NM_000548.5(TSC2):c.3295G>A (p.Gly1099Arg)
|
rs776855601
|
0.00003
|
|
NM_000548.5(TSC2):c.3342C>T (p.Ser1114=)
|
rs755871381
|
0.00003
|
|
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val)
|
rs397514945
|
0.00003
|
|
NM_000548.5(TSC2):c.3398-19C>T
|
rs969734217
|
0.00003
|
|
NM_000548.5(TSC2):c.3413G>A (p.Arg1138Gln)
|
rs143168379
|
0.00003
|
|
NM_000548.5(TSC2):c.3447C>T (p.Phe1149=)
|
rs1265832990
|
0.00003
|
|
NM_000548.5(TSC2):c.3476G>T (p.Arg1159Leu)
|
rs45473098
|
0.00003
|
|
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=)
|
rs769562717
|
0.00003
|
|
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)
|
rs397515209
|
0.00003
|
|
NM_000548.5(TSC2):c.4086C>T (p.Val1362=)
|
rs763847509
|
0.00003
|
|
NM_000548.5(TSC2):c.4108C>T (p.Pro1370Ser)
|
rs747293303
|
0.00003
|
|
NM_000548.5(TSC2):c.4167C>T (p.Pro1389=)
|
rs45508504
|
0.00003
|
|
NM_000548.5(TSC2):c.4194C>T (p.Leu1398=)
|
rs1060504106
|
0.00003
|
|
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=)
|
rs886051794
|
0.00003
|
|
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=)
|
rs536527623
|
0.00003
|
|
NM_000548.5(TSC2):c.4332C>T (p.Pro1444=)
|
rs373973956
|
0.00003
|
|
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu)
|
rs45517339
|
0.00003
|
|
NM_000548.5(TSC2):c.4401C>T (p.Ala1467=)
|
rs370735624
|
0.00003
|
|
NM_000548.5(TSC2):c.4446C>T (p.Ser1482=)
|
rs780955293
|
0.00003
|
|
NM_000548.5(TSC2):c.444C>T (p.Asp148=)
|
rs767968378
|
0.00003
|
|
NM_000548.5(TSC2):c.450G>A (p.Gly150=)
|
rs372000734
|
0.00003
|
|
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=)
|
rs751305758
|
0.00003
|
|
NM_000548.5(TSC2):c.481+8C>T
|
rs758228838
|
0.00003
|
|
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=)
|
rs397515103
|
0.00003
|
|
NM_000548.5(TSC2):c.4849+4C>T
|
rs370426490
|
0.00003
|
|
NM_000548.5(TSC2):c.4854C>T (p.Val1618=)
|
rs45517378
|
0.00003
|
|
NM_000548.5(TSC2):c.493C>T (p.Leu165=)
|
rs758521946
|
0.00003
|
|
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile)
|
rs45490993
|
0.00003
|
|
NM_000548.5(TSC2):c.5068+8C>T
|
rs747827911
|
0.00003
|
|
NM_000548.5(TSC2):c.5095G>A (p.Val1699Met)
|
rs370864445
|
0.00003
|
|
NM_000548.5(TSC2):c.5122C>T (p.Leu1708=)
|
rs1168265181
|
0.00003
|
|
NM_000548.5(TSC2):c.5181T>C (p.His1727=)
|
rs767191593
|
0.00003
|
|
NM_000548.5(TSC2):c.5346C>G (p.Ala1782=)
|
rs557200243
|
0.00003
|
|
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)
|
rs148325559
|
0.00003
|
|
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr)
|
rs45517113
|
0.00003
|
|
NM_000548.5(TSC2):c.627C>T (p.Thr209=)
|
rs776293094
|
0.00003
|
|
NM_000548.5(TSC2):c.649-20G>A
|
rs377558380
|
0.00003
|
|
NM_000548.5(TSC2):c.672C>T (p.Ala224=)
|
rs138897064
|
0.00003
|
|
NM_000548.5(TSC2):c.734G>A (p.Arg245His)
|
rs397515011
|
0.00003
|
|
NM_000548.5(TSC2):c.849-9dup
|
rs764626623
|
0.00003
|
|
NM_000548.5(TSC2):c.864C>T (p.Asp288=)
|
rs780887572
|
0.00003
|
|
NM_000551.4(VHL):c.22T>C (p.Trp8Arg)
|
rs1352171735
|
0.00003
|
|
NM_000551.4(VHL):c.375C>T (p.His125=)
|
rs863224372
|
0.00003
|
|
NM_000551.4(VHL):c.420C>A (p.Leu140=)
|
rs369465430
|
0.00003
|
|
NM_000551.4(VHL):c.549G>A (p.Ser183=)
|
rs193922614
|
0.00003
|
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
|
NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser)
|
rs72549322
|
0.00003
|
|
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)
|
rs148860301
|
0.00003
|
|
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser)
|
rs145184183
|
0.00003
|
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
|
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)
|
rs888739369
|
0.00003
|
|
NM_001164508.2(NEB):c.12018+1G>A
|
rs762278237
|
0.00003
|
|
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)
|
rs80338864
|
0.00003
|
|
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)
|
rs80338857
|
0.00003
|
|
NM_001370259.2(MEN1):c.1071C>T (p.Asp357=)
|
rs371964966
|
0.00003
|
|
NM_001370259.2(MEN1):c.1074G>A (p.Glu358=)
|
rs776834299
|
0.00003
|
|
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)
|
rs587780841
|
0.00003
|
|
NM_001370259.2(MEN1):c.1386C>A (p.Ala462=)
|
rs771827808
|
0.00003
|
|
NM_001370259.2(MEN1):c.1416C>T (p.Gly472=)
|
rs764509990
|
0.00003
|
|
NM_001370259.2(MEN1):c.1479G>A (p.Pro493=)
|
rs546721780
|
0.00003
|
|
NM_001370259.2(MEN1):c.1740G>C (p.Thr580=)
|
rs1114167530
|
0.00003
|
|
NM_001370259.2(MEN1):c.315C>G (p.Leu105=)
|
rs1238374960
|
0.00003
|
|
NM_001370259.2(MEN1):c.471G>A (p.Val157=)
|
rs878855194
|
0.00003
|
|
NM_001370259.2(MEN1):c.525C>T (p.Leu175=)
|
rs200155578
|
0.00003
|
|
NM_001370259.2(MEN1):c.759G>A (p.Ser253=)
|
rs201829546
|
0.00003
|
|
NM_001370259.2(MEN1):c.760C>T (p.Leu254=)
|
rs1194394888
|
0.00003
|
|
NM_001370259.2(MEN1):c.808C>T (p.Leu270=)
|
rs371556177
|
0.00003
|
|
NM_001370259.2(MEN1):c.837C>T (p.Ala279=)
|
rs762092675
|
0.00003
|
|
NM_001370259.2(MEN1):c.843G>C (p.Gly281=)
|
rs562620826
|
0.00003
|
|
NM_001370259.2(MEN1):c.856C>T (p.Leu286=)
|
rs542321016
|
0.00003
|
|
NM_001903.5(CTNNA1):c.409C>T (p.Arg137Trp)
|
rs781124226
|
0.00003
|
|
NM_002439.5(MSH3):c.2436-1G>A
|
rs200639359
|
0.00003
|
|
NM_002439.5(MSH3):c.574C>T (p.Gln192Ter)
|
rs374133543
|
0.00003
|
|
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)
|
rs919177150
|
0.00003
|
|
NM_002691.4(POLD1):c.1149C>A (p.Thr383=)
|
rs753026593
|
0.00003
|
|
NM_002691.4(POLD1):c.1278C>T (p.Gly426=)
|
rs751077073
|
0.00003
|
|
NM_002691.4(POLD1):c.1362C>T (p.Arg454=)
|
rs773075581
|
0.00003
|
|
NM_002691.4(POLD1):c.1416C>T (p.Tyr472=)
|
rs1289561228
|
0.00003
|
|
NM_002691.4(POLD1):c.1419G>A (p.Thr473=)
|
rs763643495
|
0.00003
|
|
NM_002691.4(POLD1):c.1461G>A (p.Glu487=)
|
rs149728120
|
0.00003
|
|
NM_002691.4(POLD1):c.1464C>T (p.Asp488=)
|
rs760263079
|
0.00003
|
|
NM_002691.4(POLD1):c.951C>T (p.Ile317=)
|
rs771902654
|
0.00003
|
|
NM_002878.4(RAD51D):c.195C>T (p.Pro65=)
|
rs376616485
|
0.00003
|
|
NM_002878.4(RAD51D):c.198G>T (p.Val66=)
|
rs200810304
|
0.00003
|
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00003
|
|
NM_002878.4(RAD51D):c.765G>A (p.Arg255=)
|
rs751833940
|
0.00003
|
|
NM_002878.4(RAD51D):c.878C>T (p.Ala293Val)
|
rs769732230
|
0.00003
|
|
NM_002878.4(RAD51D):c.879G>A (p.Ala293=)
|
rs368209468
|
0.00003
|
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
|
NM_004168.4(SDHA):c.1737C>T (p.Ile579=)
|
rs201454617
|
0.00003
|
|
NM_004329.3(BMPR1A):c.117C>T (p.Ser39=)
|
rs757333646
|
0.00003
|
|
NM_004329.3(BMPR1A):c.198C>T (p.His66=)
|
rs150493865
|
0.00003
|
|
NM_004329.3(BMPR1A):c.510C>T (p.Phe170=)
|
rs747266339
|
0.00003
|
|
NM_004329.3(BMPR1A):c.68-12A>G
|
rs201120747
|
0.00003
|
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00003
|
|
NM_004360.5(CDH1):c.1119G>A (p.Pro373=)
|
rs758258272
|
0.00003
|
|
NM_004360.5(CDH1):c.1173C>T (p.Val391=)
|
rs148080550
|
0.00003
|
|
NM_004360.5(CDH1):c.1360G>A (p.Val454Ile)
|
rs587780112
|
0.00003
|
|
NM_004360.5(CDH1):c.1371G>A (p.Thr457=)
|
rs370368644
|
0.00003
|
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
|
NM_004360.5(CDH1):c.1689C>T (p.Ala563=)
|
rs587780786
|
0.00003
|
|
NM_004360.5(CDH1):c.2204C>T (p.Ala735Val)
|
rs587782464
|
0.00003
|
|
NM_004360.5(CDH1):c.2331C>T (p.Asp777=)
|
rs114265540
|
0.00003
|
|
NM_004360.5(CDH1):c.2514C>T (p.Ser838=)
|
rs770974998
|
0.00003
|
|
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)
|
rs769076258
|
0.00003
|
|
NM_004360.5(CDH1):c.671G>A (p.Arg224His)
|
rs201511530
|
0.00003
|
|
NM_004360.5(CDH1):c.714C>T (p.Asn238=)
|
rs780297063
|
0.00003
|
|
NM_004360.5(CDH1):c.753G>A (p.Thr251=)
|
rs371996897
|
0.00003
|
|
NM_004360.5(CDH1):c.759C>T (p.Thr253=)
|
rs372934565
|
0.00003
|
|
NM_004655.4(AXIN2):c.1089C>A (p.Thr363=)
|
rs748698260
|
0.00003
|
|
NM_004655.4(AXIN2):c.1092C>T (p.Pro364=)
|
rs765518896
|
0.00003
|
|
NM_004655.4(AXIN2):c.1171C>T (p.Leu391=)
|
rs372767920
|
0.00003
|
|
NM_004655.4(AXIN2):c.1273C>T (p.Leu425=)
|
rs746718165
|
0.00003
|
|
NM_004655.4(AXIN2):c.1284C>T (p.Ser428=)
|
rs750126379
|
0.00003
|
|
NM_004655.4(AXIN2):c.1353C>T (p.Gly451=)
|
rs975950606
|
0.00003
|
|
NM_004655.4(AXIN2):c.1485C>T (p.Gly495=)
|
rs770556906
|
0.00003
|
|
NM_004655.4(AXIN2):c.1599G>A (p.Ala533=)
|
rs188003998
|
0.00003
|
|
NM_004655.4(AXIN2):c.1635G>A (p.Gly545=)
|
rs778710067
|
0.00003
|
|
NM_004655.4(AXIN2):c.1650C>T (p.Tyr550=)
|
rs978914669
|
0.00003
|
|
NM_004655.4(AXIN2):c.1665C>T (p.Cys555=)
|
rs562421443
|
0.00003
|
|
NM_004655.4(AXIN2):c.1758G>A (p.Thr586=)
|
rs542864768
|
0.00003
|
|
NM_004655.4(AXIN2):c.1887G>A (p.Gln629=)
|
rs140163819
|
0.00003
|
|
NM_004655.4(AXIN2):c.2184C>T (p.Ala728=)
|
rs146547133
|
0.00003
|
|
NM_004655.4(AXIN2):c.2499C>A (p.Gly833=)
|
rs772461187
|
0.00003
|
|
NM_004655.4(AXIN2):c.549G>A (p.Glu183=)
|
rs370765600
|
0.00003
|
|
NM_004655.4(AXIN2):c.645C>T (p.Leu215=)
|
rs767834824
|
0.00003
|
|
NM_004655.4(AXIN2):c.831C>T (p.Ser277=)
|
rs186951572
|
0.00003
|
|
NM_004655.4(AXIN2):c.948C>T (p.Asp316=)
|
rs754428008
|
0.00003
|
|
NM_004656.4(BAP1):c.1217A>T (p.Glu406Val)
|
rs535695655
|
0.00003
|
|
NM_004656.4(BAP1):c.1219G>A (p.Asp407Asn)
|
rs765347562
|
0.00003
|
|
NM_004656.4(BAP1):c.1224C>T (p.Asp408=)
|
rs755110121
|
0.00003
|
|
NM_004656.4(BAP1):c.1291G>A (p.Gly431Ser)
|
rs915913191
|
0.00003
|
|
NM_004656.4(BAP1):c.1441C>A (p.His481Asn)
|
rs764816701
|
0.00003
|
|
NM_004656.4(BAP1):c.1442A>G (p.His481Arg)
|
rs150441842
|
0.00003
|
|
NM_004656.4(BAP1):c.1821G>A (p.Thr607=)
|
rs752063900
|
0.00003
|
|
NM_004656.4(BAP1):c.1839G>A (p.Thr613=)
|
rs756450018
|
0.00003
|
|
NM_004656.4(BAP1):c.1944G>A (p.Ala648=)
|
rs150494756
|
0.00003
|
|
NM_004656.4(BAP1):c.207G>A (p.Thr69=)
|
rs748256162
|
0.00003
|
|
NM_004656.4(BAP1):c.2145T>C (p.Pro715=)
|
rs1057522124
|
0.00003
|
|
NM_004656.4(BAP1):c.2175G>A (p.Lys725=)
|
rs760537008
|
0.00003
|
|
NM_004656.4(BAP1):c.426T>C (p.Asn142=)
|
rs949334747
|
0.00003
|
|
NM_004656.4(BAP1):c.552T>C (p.Asp184=)
|
rs1469317943
|
0.00003
|
|
NM_004656.4(BAP1):c.705C>T (p.Pro235=)
|
rs138180791
|
0.00003
|
|
NM_005359.6(SMAD4):c.1215C>T (p.His405=)
|
rs751732234
|
0.00003
|
|
NM_005359.6(SMAD4):c.1236C>T (p.Tyr412=)
|
rs121912577
|
0.00003
|
|
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=)
|
rs756795016
|
0.00003
|
|
NM_005359.6(SMAD4):c.411A>G (p.Val137=)
|
rs201296880
|
0.00003
|
|
NM_005359.6(SMAD4):c.84A>G (p.Gln28=)
|
rs778465458
|
0.00003
|
|
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)
|
rs1005687078
|
0.00003
|
|
NM_006231.4(POLE):c.1254T>G (p.Pro418=)
|
rs1555228650
|
0.00003
|
|
NM_006231.4(POLE):c.1281C>T (p.Ala427=)
|
rs371586756
|
0.00003
|
|
NM_006231.4(POLE):c.1371G>A (p.Thr457=)
|
rs753216372
|
0.00003
|
|
NM_006231.4(POLE):c.1389T>C (p.Ala463=)
|
rs1014643567
|
0.00003
|
|
NM_007194.4(CHEK2):c.1323C>T (p.Thr441=)
|
rs753839004
|
0.00003
|
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00003
|
|
NM_007194.4(CHEK2):c.1563G>A (p.Arg521=)
|
rs761278013
|
0.00003
|
|
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)
|
rs149501505
|
0.00003
|
|
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=)
|
rs781593101
|
0.00003
|
|
NM_007194.4(CHEK2):c.1623T>C (p.Ala541=)
|
rs773670297
|
0.00003
|
|
NM_007194.4(CHEK2):c.534A>G (p.Gly178=)
|
rs554465930
|
0.00003
|
|
NM_007194.4(CHEK2):c.651A>G (p.Arg217=)
|
rs774245273
|
0.00003
|
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00003
|
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00003
|
|
NM_007194.4(CHEK2):c.953G>A (p.Arg318His)
|
rs143611747
|
0.00003
|
|
NM_020975.6(RET):c.1013C>T (p.Thr338Ile)
|
rs377767433
|
0.00003
|
|
NM_020975.6(RET):c.1878G>A (p.Gln626=)
|
rs147692872
|
0.00003
|
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
|
NM_024675.4(PALB2):c.110G>A (p.Arg37His)
|
rs202194596
|
0.00003
|
|
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)
|
rs367578415
|
0.00003
|
|
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala)
|
rs545119348
|
0.00003
|
|
NM_024675.4(PALB2):c.1272C>T (p.Ala424=)
|
rs754720030
|
0.00003
|
|
NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile)
|
rs767926590
|
0.00003
|
|
NM_024675.4(PALB2):c.1647C>A (p.His549Gln)
|
rs747842085
|
0.00003
|
|
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)
|
rs587781954
|
0.00003
|
|
NM_024675.4(PALB2):c.1833C>A (p.Asp611Glu)
|
rs779184831
|
0.00003
|
|
NM_024675.4(PALB2):c.1839G>A (p.Gln613=)
|
rs199682414
|
0.00003
|
|
NM_024675.4(PALB2):c.1881G>A (p.Val627=)
|
rs139362268
|
0.00003
|
|
NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del)
|
rs587778583
|
0.00003
|
|
NM_024675.4(PALB2):c.2034A>G (p.Leu678=)
|
rs373796987
|
0.00003
|
|
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg)
|
rs947155109
|
0.00003
|
|
NM_024675.4(PALB2):c.2106A>G (p.Ile702Met)
|
rs730881886
|
0.00003
|
|
NM_024675.4(PALB2):c.2136G>A (p.Ala712=)
|
rs905951607
|
0.00003
|
|
NM_024675.4(PALB2):c.2208C>A (p.Ala736=)
|
rs369113809
|
0.00003
|
|
NM_024675.4(PALB2):c.2244A>G (p.Thr748=)
|
rs750048627
|
0.00003
|
|
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)
|
rs587782579
|
0.00003
|
|
NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr)
|
rs374736398
|
0.00003
|
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
|
NM_024675.4(PALB2):c.2949C>G (p.Thr983=)
|
rs1250153779
|
0.00003
|
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
|
NM_024675.4(PALB2):c.3201+10G>A
|
rs759499251
|
0.00003
|
|
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser)
|
rs730881878
|
0.00003
|
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
|
NM_024675.4(PALB2):c.3473A>G (p.His1158Arg)
|
rs45505500
|
0.00003
|
|
NM_024675.4(PALB2):c.788A>G (p.Glu263Gly)
|
rs745553724
|
0.00003
|
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
|
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile)
|
rs45548638
|
0.00003
|
|
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)
|
rs104894371
|
0.00003
|
|
NM_032043.3(BRIP1):c.1695A>C (p.Ser565=)
|
rs142572387
|
0.00003
|
|
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)
|
rs766047812
|
0.00003
|
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
|
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)
|
rs188258913
|
0.00003
|
|
NM_032043.3(BRIP1):c.312T>G (p.Thr104=)
|
rs769190318
|
0.00003
|
|
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)
|
rs45512798
|
0.00003
|
|
NM_058216.3(RAD51C):c.1089G>A (p.Leu363=)
|
rs559647198
|
0.00003
|
|
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)
|
rs587780253
|
0.00003
|
|
NM_058216.3(RAD51C):c.571+5G>A
|
rs145779113
|
0.00003
|
|
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)
|
rs199886026
|
0.00003
|
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00003
|
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00003
|
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00003
|
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00003
|
|
NM_144997.7(FLCN):c.1066C>G (p.Leu356Val)
|
rs757313788
|
0.00003
|
|
NM_144997.7(FLCN):c.1140C>T (p.Asp380=)
|
rs768454196
|
0.00003
|
|
NM_144997.7(FLCN):c.1189G>A (p.Val397Met)
|
rs752006809
|
0.00003
|
|
NM_144997.7(FLCN):c.12C>T (p.Ile4=)
|
rs752123350
|
0.00003
|
|
NM_144997.7(FLCN):c.1380C>T (p.Leu460=)
|
rs773581294
|
0.00003
|
|
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln)
|
rs748878853
|
0.00003
|
|
NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln)
|
rs777826268
|
0.00003
|
|
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)
|
rs775149348
|
0.00003
|
|
NM_144997.7(FLCN):c.222G>A (p.Pro74=)
|
rs770311645
|
0.00003
|
|
NM_144997.7(FLCN):c.315A>G (p.Lys105=)
|
rs759011359
|
0.00003
|
|
NM_144997.7(FLCN):c.429C>T (p.Phe143=)
|
rs773792624
|
0.00003
|
|
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)
|
rs558699420
|
0.00003
|
|
NM_144997.7(FLCN):c.804G>T (p.Arg268=)
|
rs771424902
|
0.00003
|
|
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys)
|
rs756787389
|
0.00003
|
|
NM_144997.7(FLCN):c.955G>C (p.Gly319Arg)
|
rs753491072
|
0.00003
|
|
NM_153717.3(EVC):c.175-2A>G
|
rs767186464
|
0.00003
|
|
NM_172250.3(MMAA):c.658G>A (p.Val220Met)
|
rs150376474
|
0.00003
|
|
NC_000013.11:g.32376664T>A
|
rs397507408
|
0.00002
|
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
|
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
|
rs120074141
|
0.00002
|
|
NM_000022.4(ADA):c.911T>G (p.Leu304Arg)
|
rs199422327
|
0.00002
|
|
NM_000035.4(ALDOB):c.910C>T (p.Arg304Trp)
|
rs555935217
|
0.00002
|
|
NM_000038.6(APC):c.138A>G (p.Glu46=)
|
rs1429803547
|
0.00002
|
|
NM_000038.6(APC):c.1713A>G (p.Ala571=)
|
rs529306174
|
0.00002
|
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
0.00002
|
|
NM_000038.6(APC):c.2444A>C (p.Asn815Thr)
|
rs762990578
|
0.00002
|
|
NM_000038.6(APC):c.2481T>C (p.Asn827=)
|
rs749477816
|
0.00002
|
|
NM_000038.6(APC):c.2802T>G (p.Thr934=)
|
rs1007581628
|
0.00002
|
|
NM_000038.6(APC):c.288T>C (p.Tyr96=)
|
rs376213437
|
0.00002
|
|
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)
|
rs149353082
|
0.00002
|
|
NM_000038.6(APC):c.3711G>A (p.Gln1237=)
|
rs756939805
|
0.00002
|
|
NM_000038.6(APC):c.3759T>C (p.Ser1253=)
|
rs1214264655
|
0.00002
|
|
NM_000038.6(APC):c.4233T>C (p.Ser1411=)
|
rs761170573
|
0.00002
|
|
NM_000038.6(APC):c.4311A>G (p.Lys1437=)
|
rs371784771
|
0.00002
|
|
NM_000038.6(APC):c.4525C>T (p.Leu1509=)
|
rs572839648
|
0.00002
|
|
NM_000038.6(APC):c.5147A>G (p.Asn1716Ser)
|
rs141298709
|
0.00002
|
|
NM_000038.6(APC):c.5271T>C (p.Ser1757=)
|
rs752875511
|
0.00002
|
|
NM_000038.6(APC):c.5319T>C (p.Thr1773=)
|
rs563219702
|
0.00002
|
|
NM_000038.6(APC):c.5421C>T (p.Asp1807=)
|
rs753501921
|
0.00002
|
|
NM_000038.6(APC):c.5752A>G (p.Ile1918Val)
|
rs776966222
|
0.00002
|
|
NM_000038.6(APC):c.5823A>G (p.Pro1941=)
|
rs770869007
|
0.00002
|
|
NM_000038.6(APC):c.5907G>C (p.Leu1969=)
|
rs200881543
|
0.00002
|
|
NM_000038.6(APC):c.6054A>G (p.Pro2018=)
|
rs967247502
|
0.00002
|
|
NM_000038.6(APC):c.6276A>G (p.Leu2092=)
|
rs548566231
|
0.00002
|
|
NM_000038.6(APC):c.6837A>G (p.Lys2279=)
|
rs1057521763
|
0.00002
|
|
NM_000038.6(APC):c.6885A>G (p.Ser2295=)
|
rs763506865
|
0.00002
|
|
NM_000038.6(APC):c.7182T>C (p.Ser2394=)
|
rs777420141
|
0.00002
|
|
NM_000038.6(APC):c.7194C>T (p.Ser2398=)
|
rs565688379
|
0.00002
|
|
NM_000038.6(APC):c.730-10A>G
|
rs756676415
|
0.00002
|
|
NM_000038.6(APC):c.7395T>C (p.Leu2465=)
|
rs369906346
|
0.00002
|
|
NM_000038.6(APC):c.7443T>A (p.Thr2481=)
|
rs147757080
|
0.00002
|
|
NM_000038.6(APC):c.7821C>T (p.Ser2607=)
|
rs532235331
|
0.00002
|
|
NM_000038.6(APC):c.8199A>G (p.Gln2733=)
|
rs372365378
|
0.00002
|
|
NM_000038.6(APC):c.8262T>C (p.Ser2754=)
|
rs1382030053
|
0.00002
|
|
NM_000038.6(APC):c.8283A>G (p.Pro2761=)
|
rs1393043478
|
0.00002
|
|
NM_000038.6(APC):c.835-3T>C
|
rs372090940
|
0.00002
|
|
NM_000038.6(APC):c.8382C>T (p.Ser2794=)
|
rs762190393
|
0.00002
|
|
NM_000038.6(APC):c.8429A>G (p.Asn2810Ser)
|
rs758044862
|
0.00002
|
|
NM_000038.6(APC):c.8508G>T (p.Gly2836=)
|
rs878853479
|
0.00002
|
|
NM_000049.4(ASPA):c.237-2A>T
|
rs780936696
|
0.00002
|
|
NM_000051.4(ATM):c.1271C>A (p.Pro424His)
|
rs147472613
|
0.00002
|
|
NM_000051.4(ATM):c.1629T>G (p.Thr543=)
|
rs760285673
|
0.00002
|
|
NM_000051.4(ATM):c.1855A>C (p.Asn619His)
|
rs140882609
|
0.00002
|
|
NM_000051.4(ATM):c.3994-2A>G
|
rs587782276
|
0.00002
|
|
NM_000051.4(ATM):c.4050G>A (p.Thr1350=)
|
rs770697446
|
0.00002
|
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
|
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)
|
rs370537345
|
0.00002
|
|
NM_000051.4(ATM):c.6552C>T (p.Ser2184=)
|
rs565124064
|
0.00002
|
|
NM_000051.4(ATM):c.660G>A (p.Ala220=)
|
rs763669136
|
0.00002
|
|
NM_000051.4(ATM):c.6897C>T (p.Phe2299=)
|
rs777164914
|
0.00002
|
|
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)
|
rs587779870
|
0.00002
|
|
NM_000051.4(ATM):c.8427A>G (p.Gln2809=)
|
rs538173062
|
0.00002
|
|
NM_000051.4(ATM):c.901+1G>A
|
rs748840480
|
0.00002
|
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
|
NM_000051.4(ATM):c.9045G>A (p.Glu3015=)
|
rs786203336
|
0.00002
|
|
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val)
|
rs1555291801
|
0.00002
|
|
NM_000057.4(BLM):c.3019+7T>C
|
rs761087545
|
0.00002
|
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
|
NM_000057.4(BLM):c.670C>T (p.Gln224Ter)
|
rs918752814
|
0.00002
|
|
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro)
|
rs572782576
|
0.00002
|
|
NM_000059.4(BRCA2):c.5113A>G (p.Ile1705Val)
|
rs80358737
|
0.00002
|
|
NM_000059.4(BRCA2):c.6331A>G (p.Lys2111Glu)
|
rs773211804
|
0.00002
|
|
NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val)
|
rs80358941
|
0.00002
|
|
NM_000059.4(BRCA2):c.8515T>C (p.Tyr2839His)
|
rs758884639
|
0.00002
|
|
NM_000059.4(BRCA2):c.9648+10T>G
|
rs81002835
|
0.00002
|
|
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)
|
rs121964966
|
0.00002
|
|
NM_000077.5(CDKN2A):c.150+20C>T
|
rs550846229
|
0.00002
|
|
NM_000133.4(F9):c.163T>A (p.Phe55Ile)
|
rs759987427
|
0.00002
|
|
NM_000143.4(FH):c.655G>A (p.Asp219Asn)
|
rs11545656
|
0.00002
|
|
NM_000153.4(GALC):c.674C>A (p.Ala225Glu)
|
rs373077659
|
0.00002
|
|
NM_000155.4(GALT):c.413C>T (p.Thr138Met)
|
rs111033686
|
0.00002
|
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
|
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)
|
rs761765983
|
0.00002
|
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
|
NM_000179.3(MSH6):c.2006T>C (p.Ile669Thr)
|
rs555209664
|
0.00002
|
|
NM_000179.3(MSH6):c.204G>A (p.Lys68=)
|
rs864622565
|
0.00002
|
|
NM_000179.3(MSH6):c.2241G>A (p.Leu747=)
|
rs377722465
|
0.00002
|
|
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)
|
rs587779923
|
0.00002
|
|
NM_000179.3(MSH6):c.2508C>T (p.Asn836=)
|
rs758170249
|
0.00002
|
|
NM_000179.3(MSH6):c.2511C>G (p.His837Gln)
|
rs587779925
|
0.00002
|
|
NM_000179.3(MSH6):c.2624T>C (p.Met875Thr)
|
rs774774596
|
0.00002
|
|
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)
|
rs730881798
|
0.00002
|
|
NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg)
|
rs764113705
|
0.00002
|
|
NM_000179.3(MSH6):c.321T>C (p.Pro107=)
|
rs730881823
|
0.00002
|
|
NM_000179.3(MSH6):c.3300G>A (p.Thr1100=)
|
rs540252208
|
0.00002
|
|
NM_000179.3(MSH6):c.3642A>G (p.Glu1214=)
|
rs765247025
|
0.00002
|
|
NM_000179.3(MSH6):c.4062G>T (p.Leu1354=)
|
rs863224335
|
0.00002
|
|
NM_000179.3(MSH6):c.728G>A (p.Arg243His)
|
rs370157832
|
0.00002
|
|
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)
|
rs764039230
|
0.00002
|
|
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro)
|
rs281865080
|
0.00002
|
|
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro)
|
rs779703983
|
0.00002
|
|
NM_000245.4(MET):c.2673C>T (p.Ala891=)
|
rs561131509
|
0.00002
|
|
NM_000245.4(MET):c.4074C>T (p.Asn1358=)
|
rs772860611
|
0.00002
|
|
NM_000245.4(MET):c.939G>A (p.Val313=)
|
rs375716972
|
0.00002
|
|
NM_000249.4(MLH1):c.1256T>C (p.Ile419Thr)
|
rs377484262
|
0.00002
|
|
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp)
|
rs63751703
|
0.00002
|
|
NM_000249.4(MLH1):c.1874A>G (p.Tyr625Cys)
|
rs748851107
|
0.00002
|
|
NM_000249.4(MLH1):c.2070C>T (p.Tyr690=)
|
rs550890395
|
0.00002
|
|
NM_000249.4(MLH1):c.226G>A (p.Val76Ile)
|
rs878853788
|
0.00002
|
|
NM_000249.4(MLH1):c.303T>G (p.Gly101=)
|
rs4647220
|
0.00002
|
|
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)
|
rs779581111
|
0.00002
|
|
NM_000251.3(MSH2):c.1124C>T (p.Thr375Ile)
|
rs774539871
|
0.00002
|
|
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)
|
rs374135434
|
0.00002
|
|
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)
|
rs751431238
|
0.00002
|
|
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)
|
rs63750328
|
0.00002
|
|
NM_000251.3(MSH2):c.1854A>G (p.Pro618=)
|
rs786203744
|
0.00002
|
|
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)
|
rs41294982
|
0.00002
|
|
NM_000251.3(MSH2):c.2061C>G (p.Leu687=)
|
rs63750032
|
0.00002
|
|
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile)
|
rs587782396
|
0.00002
|
|
NM_000251.3(MSH2):c.220A>C (p.Asn74His)
|
rs150548839
|
0.00002
|
|
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro)
|
rs774440277
|
0.00002
|
|
NM_000251.3(MSH2):c.2377C>G (p.Gln793Glu)
|
rs730881769
|
0.00002
|
|
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)
|
rs587780687
|
0.00002
|
|
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln)
|
rs587779967
|
0.00002
|
|
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)
|
rs587779970
|
0.00002
|
|
NM_000251.3(MSH2):c.42G>A (p.Ala14=)
|
rs374396150
|
0.00002
|
|
NM_000251.3(MSH2):c.438T>C (p.Gly146=)
|
rs587779161
|
0.00002
|
|
NM_000251.3(MSH2):c.762T>C (p.Asn254=)
|
rs587779180
|
0.00002
|
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
|
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys)
|
rs397516292
|
0.00002
|
|
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)
|
rs121965080
|
0.00002
|
|
NM_000303.3(PMM2):c.255+1G>A
|
rs1060499598
|
0.00002
|
|
NM_000314.8(PTEN):c.261A>G (p.Gln87=)
|
rs149772796
|
0.00002
|
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
|
NM_000349.3(STAR):c.814C>T (p.Arg272Cys)
|
rs751759820
|
0.00002
|
|
NM_000360.4(TH):c.1189G>A (p.Gly397Arg)
|
rs1264884607
|
0.00002
|
|
NM_000360.4(TH):c.787G>C (p.Gly263Arg)
|
rs755536257
|
0.00002
|
|
NM_000368.5(TSC1):c.1030-14T>A
|
rs180810228
|
0.00002
|
|
NM_000368.5(TSC1):c.111T>C (p.Arg37=)
|
rs966292723
|
0.00002
|
|
NM_000368.5(TSC1):c.1251A>G (p.Thr417=)
|
rs147127442
|
0.00002
|
|
NM_000368.5(TSC1):c.1273A>G (p.Met425Val)
|
rs753199284
|
0.00002
|
|
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu)
|
rs770570830
|
0.00002
|
|
NM_000368.5(TSC1):c.1809G>T (p.Pro603=)
|
rs112434645
|
0.00002
|
|
NM_000368.5(TSC1):c.1848C>T (p.Ala616=)
|
rs752286096
|
0.00002
|
|
NM_000368.5(TSC1):c.1881G>A (p.Leu627=)
|
rs766204646
|
0.00002
|
|
NM_000368.5(TSC1):c.2034C>T (p.His678=)
|
rs201392975
|
0.00002
|
|
NM_000368.5(TSC1):c.2322G>A (p.Lys774=)
|
rs772038670
|
0.00002
|
|
NM_000368.5(TSC1):c.2424G>A (p.Ala808=)
|
rs200651872
|
0.00002
|
|
NM_000368.5(TSC1):c.2901C>T (p.Gly967=)
|
rs774634388
|
0.00002
|
|
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln)
|
rs549467159
|
0.00002
|
|
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=)
|
rs765753157
|
0.00002
|
|
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=)
|
rs118203746
|
0.00002
|
|
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=)
|
rs749995749
|
0.00002
|
|
NM_000368.5(TSC1):c.3249T>C (p.Ser1083=)
|
rs761673589
|
0.00002
|
|
NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu)
|
rs1442514678
|
0.00002
|
|
NM_000368.5(TSC1):c.3266G>C (p.Gly1089Ala)
|
rs762845573
|
0.00002
|
|
NM_000368.5(TSC1):c.3396C>T (p.Pro1132=)
|
rs774980129
|
0.00002
|
|
NM_000368.5(TSC1):c.3397C>T (p.Leu1133=)
|
rs1244090738
|
0.00002
|
|
NM_000368.5(TSC1):c.509-13G>A
|
rs746269100
|
0.00002
|
|
NM_000368.5(TSC1):c.531C>T (p.Leu177=)
|
rs752615412
|
0.00002
|
|
NM_000368.5(TSC1):c.593A>G (p.Asn198Ser)
|
rs577983115
|
0.00002
|
|
NM_000368.5(TSC1):c.597C>T (p.Phe199=)
|
rs202242304
|
0.00002
|
|
NM_000368.5(TSC1):c.720T>G (p.His240Gln)
|
rs779872953
|
0.00002
|
|
NM_000368.5(TSC1):c.762T>C (p.Asp254=)
|
rs780005416
|
0.00002
|
|
NM_000368.5(TSC1):c.930C>T (p.Thr310=)
|
rs759004332
|
0.00002
|
|
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)
|
rs28940877
|
0.00002
|
|
NM_000400.4(ERCC2):c.1479+2dup
|
rs776705174
|
0.00002
|
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
|
NM_000455.5(STK11):c.1029C>T (p.Asp343=)
|
rs1448942333
|
0.00002
|
|
NM_000455.5(STK11):c.1050C>T (p.Asp350=)
|
rs779583262
|
0.00002
|
|
NM_000455.5(STK11):c.1109-14C>T
|
rs780434041
|
0.00002
|
|
NM_000455.5(STK11):c.114G>T (p.Pro38=)
|
rs981179453
|
0.00002
|
|
NM_000455.5(STK11):c.1168G>A (p.Val390Met)
|
rs374078532
|
0.00002
|
|
NM_000455.5(STK11):c.1179C>T (p.Asn393=)
|
rs863224360
|
0.00002
|
|
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)
|
rs768058962
|
0.00002
|
|
NM_000455.5(STK11):c.1278G>A (p.Arg426=)
|
rs201256614
|
0.00002
|
|
NM_000455.5(STK11):c.234G>A (p.Lys78=)
|
rs766658000
|
0.00002
|
|
NM_000455.5(STK11):c.27G>C (p.Leu9=)
|
rs876659432
|
0.00002
|
|
NM_000455.5(STK11):c.310A>G (p.Arg104Gly)
|
rs587782783
|
0.00002
|
|
NM_000455.5(STK11):c.552C>T (p.Leu184=)
|
rs587780719
|
0.00002
|
|
NM_000455.5(STK11):c.771G>A (p.Gly257=)
|
rs777998890
|
0.00002
|
|
NM_000455.5(STK11):c.801C>T (p.Ile267=)
|
rs539772540
|
0.00002
|
|
NM_000455.5(STK11):c.921-8G>A
|
rs863224362
|
0.00002
|
|
NM_000455.5(STK11):c.972G>A (p.Pro324=)
|
rs553474397
|
0.00002
|
|
NM_000455.5(STK11):c.984C>G (p.Thr328=)
|
rs730881965
|
0.00002
|
|
NM_000465.4(BARD1):c.1194A>G (p.Thr398=)
|
rs781482219
|
0.00002
|
|
NM_000465.4(BARD1):c.1270A>C (p.Arg424=)
|
rs1553622123
|
0.00002
|
|
NM_000465.4(BARD1):c.1569-13C>G
|
rs587780018
|
0.00002
|
|
NM_000465.4(BARD1):c.159-7C>T
|
rs533403598
|
0.00002
|
|
NM_000465.4(BARD1):c.1678A>G (p.Met560Val)
|
rs587780020
|
0.00002
|
|
NM_000465.4(BARD1):c.2253G>T (p.Arg751=)
|
rs750001065
|
0.00002
|
|
NM_000465.4(BARD1):c.531A>G (p.Gln177=)
|
rs774050888
|
0.00002
|
|
NM_000465.4(BARD1):c.564T>G (p.Pro188=)
|
rs748511245
|
0.00002
|
|
NM_000465.4(BARD1):c.776A>G (p.Asp259Gly)
|
rs587780036
|
0.00002
|
|
NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)
|
rs587780037
|
0.00002
|
|
NM_000465.4(BARD1):c.945A>T (p.Pro315=)
|
rs876660284
|
0.00002
|
|
NM_000487.6(ARSA):c.907G>A (p.Gly303Arg)
|
rs1276584787
|
0.00002
|
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)
|
rs864621993
|
0.00002
|
|
NM_000535.7(PMS2):c.1170G>A (p.Ala390=)
|
rs755578413
|
0.00002
|
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
|
NM_000535.7(PMS2):c.378C>T (p.His126=)
|
rs768488890
|
0.00002
|
|
NM_000535.7(PMS2):c.789G>A (p.Leu263=)
|
rs755394319
|
0.00002
|
|
NM_000546.6(TP53):c.18A>C (p.Ser6=)
|
rs573130482
|
0.00002
|
|
NM_000546.6(TP53):c.234A>G (p.Ala78=)
|
rs375099397
|
0.00002
|
|
NM_000546.6(TP53):c.249G>A (p.Ala83=)
|
rs55754907
|
0.00002
|
|
NM_000546.6(TP53):c.297C>T (p.Ser99=)
|
rs751494750
|
0.00002
|
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
|
NM_000546.6(TP53):c.510G>A (p.Thr170=)
|
rs757544615
|
0.00002
|
|
NM_000546.6(TP53):c.555C>T (p.Ser185=)
|
rs367560109
|
0.00002
|
|
NM_000546.6(TP53):c.582T>C (p.Leu194=)
|
rs370216745
|
0.00002
|
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
|
NM_000546.6(TP53):c.732C>T (p.Gly244=)
|
rs759625762
|
0.00002
|
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
|
NM_000548.5(TSC2):c.1071G>A (p.Ala357=)
|
rs776395163
|
0.00002
|
|
NM_000548.5(TSC2):c.1119+6G>C
|
rs397515305
|
0.00002
|
|
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu)
|
rs45517154
|
0.00002
|
|
NM_000548.5(TSC2):c.1257+8C>A
|
rs767392684
|
0.00002
|
|
NM_000548.5(TSC2):c.1258-5G>T
|
rs925954967
|
0.00002
|
|
NM_000548.5(TSC2):c.1458C>T (p.Asn486=)
|
rs200532154
|
0.00002
|
|
NM_000548.5(TSC2):c.1818C>T (p.Ile606=)
|
rs547389841
|
0.00002
|
|
NM_000548.5(TSC2):c.1842C>G (p.Ala614=)
|
rs201575136
|
0.00002
|
|
NM_000548.5(TSC2):c.1977C>T (p.Thr659=)
|
rs369065703
|
0.00002
|
|
NM_000548.5(TSC2):c.2207C>T (p.Ala736Val)
|
rs764259520
|
0.00002
|
|
NM_000548.5(TSC2):c.2221-8G>C
|
rs768919244
|
0.00002
|
|
NM_000548.5(TSC2):c.226-13C>T
|
rs886038353
|
0.00002
|
|
NM_000548.5(TSC2):c.2310G>C (p.Leu770=)
|
rs772380298
|
0.00002
|
|
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys)
|
rs767252128
|
0.00002
|
|
NM_000548.5(TSC2):c.2358C>T (p.Arg786=)
|
rs372834284
|
0.00002
|
|
NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly)
|
rs200929621
|
0.00002
|
|
NM_000548.5(TSC2):c.2412C>T (p.Cys804=)
|
rs763123951
|
0.00002
|
|
NM_000548.5(TSC2):c.2415C>T (p.Val805=)
|
rs45517235
|
0.00002
|
|
NM_000548.5(TSC2):c.2433C>T (p.Cys811=)
|
rs1596356520
|
0.00002
|
|
NM_000548.5(TSC2):c.2484G>A (p.Val828=)
|
rs780395534
|
0.00002
|
|
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)
|
rs45517249
|
0.00002
|
|
NM_000548.5(TSC2):c.2607C>T (p.Phe869=)
|
rs750336814
|
0.00002
|
|
NM_000548.5(TSC2):c.2694C>T (p.Ile898=)
|
rs200360213
|
0.00002
|
|
NM_000548.5(TSC2):c.2916C>A (p.Ala972=)
|
rs751474097
|
0.00002
|
|
NM_000548.5(TSC2):c.2948C>G (p.Ser983Cys)
|
rs759786102
|
0.00002
|
|
NM_000548.5(TSC2):c.2967-16C>T
|
rs774389795
|
0.00002
|
|
NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn)
|
rs149808366
|
0.00002
|
|
NM_000548.5(TSC2):c.3039T>C (p.Asp1013=)
|
rs149098424
|
0.00002
|
|
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=)
|
rs747104674
|
0.00002
|
|
NM_000548.5(TSC2):c.3204T>C (p.Thr1068=)
|
rs1060504101
|
0.00002
|
|
NM_000548.5(TSC2):c.3249G>A (p.Leu1083=)
|
rs762243606
|
0.00002
|
|
NM_000548.5(TSC2):c.344G>A (p.Arg115His)
|
rs764529584
|
0.00002
|
|
NM_000548.5(TSC2):c.3520C>T (p.Arg1174Trp)
|
rs529298825
|
0.00002
|
|
NM_000548.5(TSC2):c.3534G>A (p.Gln1178=)
|
rs201305783
|
0.00002
|
|
NM_000548.5(TSC2):c.354C>G (p.Val118=)
|
rs762228318
|
0.00002
|
|
NM_000548.5(TSC2):c.3610+4C>T
|
rs201978396
|
0.00002
|
|
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=)
|
rs201599540
|
0.00002
|
|
NM_000548.5(TSC2):c.3885C>T (p.Asp1295=)
|
rs766771526
|
0.00002
|
|
NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile)
|
rs373982157
|
0.00002
|
|
NM_000548.5(TSC2):c.408T>G (p.Leu136=)
|
rs1037058497
|
0.00002
|
|
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln)
|
rs587778738
|
0.00002
|
|
NM_000548.5(TSC2):c.411C>T (p.His137=)
|
rs776129896
|
0.00002
|
|
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=)
|
rs769653533
|
0.00002
|
|
NM_000548.5(TSC2):c.4155C>G (p.Ser1385=)
|
rs1057521540
|
0.00002
|
|
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=)
|
rs911307922
|
0.00002
|
|
NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg)
|
rs562443546
|
0.00002
|
|
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg)
|
rs45517338
|
0.00002
|
|
NM_000548.5(TSC2):c.4436C>T (p.Ala1479Val)
|
rs397515242
|
0.00002
|
|
NM_000548.5(TSC2):c.4440A>G (p.Leu1480=)
|
rs756991335
|
0.00002
|
|
NM_000548.5(TSC2):c.4461C>T (p.Ser1487=)
|
rs777104003
|
0.00002
|
|
NM_000548.5(TSC2):c.4539G>A (p.Glu1513=)
|
rs1322800885
|
0.00002
|
|
NM_000548.5(TSC2):c.4569+6C>T
|
rs756614796
|
0.00002
|
|
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=)
|
rs377377367
|
0.00002
|
|
NM_000548.5(TSC2):c.4599C>T (p.Leu1533=)
|
rs768431568
|
0.00002
|
|
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=)
|
rs151140709
|
0.00002
|
|
NM_000548.5(TSC2):c.4728G>A (p.Thr1576=)
|
rs752642825
|
0.00002
|
|
NM_000548.5(TSC2):c.482-14C>T
|
rs757054946
|
0.00002
|
|
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn)
|
rs886051795
|
0.00002
|
|
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn)
|
rs45482398
|
0.00002
|
|
NM_000548.5(TSC2):c.4956C>T (p.Asp1652=)
|
rs1376515823
|
0.00002
|
|
NM_000548.5(TSC2):c.5004T>C (p.Phe1668=)
|
rs745787082
|
0.00002
|
|
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val)
|
rs374066182
|
0.00002
|
|
NM_000548.5(TSC2):c.5064G>A (p.Arg1688=)
|
rs374476631
|
0.00002
|
|
NM_000548.5(TSC2):c.5069-13C>T
|
rs542607400
|
0.00002
|
|
NM_000548.5(TSC2):c.5079C>T (p.Gly1693=)
|
rs1173469448
|
0.00002
|
|
NM_000548.5(TSC2):c.5112T>A (p.Ser1704=)
|
rs769158004
|
0.00002
|
|
NM_000548.5(TSC2):c.5160+7G>C
|
rs45506600
|
0.00002
|
|
NM_000548.5(TSC2):c.5193C>T (p.Asn1731=)
|
rs753336580
|
0.00002
|
|
NM_000548.5(TSC2):c.5260-9T>C
|
rs775095745
|
0.00002
|
|
NM_000548.5(TSC2):c.5275G>A (p.Ala1759Thr)
|
rs758450326
|
0.00002
|
|
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=)
|
rs886051798
|
0.00002
|
|
NM_000548.5(TSC2):c.5328C>T (p.Ala1776=)
|
rs757292336
|
0.00002
|
|
NM_000548.5(TSC2):c.5415G>A (p.Glu1805=)
|
rs982803529
|
0.00002
|
|
NM_000548.5(TSC2):c.623G>A (p.Arg208Gln)
|
rs368386966
|
0.00002
|
|
NM_000548.5(TSC2):c.649-8T>C
|
rs769803918
|
0.00002
|
|
NM_000548.5(TSC2):c.651C>G (p.Val217=)
|
rs780004703
|
0.00002
|
|
NM_000548.5(TSC2):c.721G>A (p.Val241Ile)
|
rs200943828
|
0.00002
|
|
NM_000548.5(TSC2):c.735C>T (p.Arg245=)
|
rs763419528
|
0.00002
|
|
NM_000548.5(TSC2):c.945G>A (p.Ser315=)
|
rs763948768
|
0.00002
|
|
NM_000548.5(TSC2):c.975+7C>T
|
rs372463702
|
0.00002
|
|
NM_000548.5(TSC2):c.976-16C>T
|
rs773016098
|
0.00002
|
|
NM_000548.5(TSC2):c.993C>T (p.Asn331=)
|
rs45517153
|
0.00002
|
|
NM_000551.4(VHL):c.315G>C (p.Thr105=)
|
rs769102979
|
0.00002
|
|
NM_000551.4(VHL):c.323G>A (p.Arg108His)
|
rs367594943
|
0.00002
|
|
NM_000551.4(VHL):c.48G>A (p.Glu16=)
|
rs1057522140
|
0.00002
|
|
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)
|
rs774380450
|
0.00002
|
|
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)
|
rs942815730
|
0.00002
|
|
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys)
|
rs767480544
|
0.00002
|
|
NM_001040108.2(MLH3):c.1798C>T (p.Arg600Ter)
|
rs927878214
|
0.00002
|
|
NM_001079866.2(BCS1L):c.-50+405A>G
|
rs898301590
|
0.00002
|
|
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
|
rs919157306
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
|
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter)
|
rs756032160
|
0.00002
|
|
NM_001370259.2(MEN1):c.1155G>A (p.Ala385=)
|
rs201091135
|
0.00002
|
|
NM_001370259.2(MEN1):c.115T>C (p.Leu39=)
|
rs863224438
|
0.00002
|
|
NM_001370259.2(MEN1):c.1206C>T (p.Ser402=)
|
rs770037856
|
0.00002
|
|
NM_001370259.2(MEN1):c.1356G>T (p.Arg452=)
|
rs1180957953
|
0.00002
|
|
NM_001370259.2(MEN1):c.1392G>A (p.Ala464=)
|
rs754445482
|
0.00002
|
|
NM_001370259.2(MEN1):c.1656T>C (p.Thr552=)
|
rs143423552
|
0.00002
|
|
NM_001370259.2(MEN1):c.1695G>T (p.Leu565=)
|
rs767677287
|
0.00002
|
|
NM_001370259.2(MEN1):c.228C>G (p.Thr76=)
|
rs1394017906
|
0.00002
|
|
NM_001370259.2(MEN1):c.426C>T (p.Ser142=)
|
rs753252650
|
0.00002
|
|
NM_001370259.2(MEN1):c.513G>C (p.Arg171=)
|
rs560870111
|
0.00002
|
|
NM_001370259.2(MEN1):c.570G>A (p.Gly190=)
|
rs547249181
|
0.00002
|
|
NM_001370259.2(MEN1):c.639C>T (p.Ala213=)
|
rs746067825
|
0.00002
|
|
NM_001370259.2(MEN1):c.913-8C>T
|
rs373893527
|
0.00002
|
|
NM_001370259.2(MEN1):c.993C>T (p.Asn331=)
|
rs370176253
|
0.00002
|
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00002
|
|
NM_002528.7(NTHL1):c.115+1G>A
|
rs749908882
|
0.00002
|
|
NM_002691.4(POLD1):c.1041G>A (p.Pro347=)
|
rs41553718
|
0.00002
|
|
NM_002691.4(POLD1):c.1138-14G>T
|
rs200111674
|
0.00002
|
|
NM_002691.4(POLD1):c.1212G>A (p.Pro404=)
|
rs368758462
|
0.00002
|
|
NM_002691.4(POLD1):c.1608G>A (p.Ala536=)
|
rs568549476
|
0.00002
|
|
NM_002691.4(POLD1):c.858G>A (p.Leu286=)
|
rs998991716
|
0.00002
|
|
NM_002691.4(POLD1):c.909A>G (p.Pro303=)
|
rs764920696
|
0.00002
|
|
NM_002878.4(RAD51D):c.171G>A (p.Leu57=)
|
rs786202885
|
0.00002
|
|
NM_002878.4(RAD51D):c.363del (p.Ala122fs)
|
rs730881935
|
0.00002
|
|
NM_002878.4(RAD51D):c.393C>T (p.Asn131=)
|
rs772605790
|
0.00002
|
|
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)
|
rs587781756
|
0.00002
|
|
NM_002878.4(RAD51D):c.570C>T (p.Ala190=)
|
rs750479232
|
0.00002
|
|
NM_002878.4(RAD51D):c.576+1G>A
|
rs781161543
|
0.00002
|
|
NM_002878.4(RAD51D):c.627T>C (p.Thr209=)
|
rs141545966
|
0.00002
|
|
NM_002878.4(RAD51D):c.792C>G (p.Leu264=)
|
rs536544621
|
0.00002
|
|
NM_002878.4(RAD51D):c.83-20T>C
|
rs182793287
|
0.00002
|
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
|
NM_002878.4(RAD51D):c.922A>G (p.Met308Val)
|
rs786201961
|
0.00002
|
|
NM_002878.4(RAD51D):c.966A>G (p.Thr322=)
|
rs786203299
|
0.00002
|
|
NM_004004.6(GJB2):c.585G>C (p.Met195Ile)
|
rs570552952
|
0.00002
|
|
NM_004168.4(SDHA):c.1146C>A (p.Gly382=)
|
rs768947225
|
0.00002
|
|
NM_004168.4(SDHA):c.1308C>T (p.Tyr436=)
|
rs762494024
|
0.00002
|
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1068C>T (p.Pro356=)
|
rs759520915
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1086C>T (p.Asp362=)
|
rs201415408
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1230C>T (p.Pro410=)
|
rs200642188
|
0.00002
|
|
NM_004329.3(BMPR1A):c.12A>G (p.Leu4=)
|
rs772729006
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1368A>G (p.Pro456=)
|
rs864622447
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1569G>A (p.Lys523=)
|
rs876659703
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1578A>G (p.Glu526=)
|
rs202030576
|
0.00002
|
|
NM_004329.3(BMPR1A):c.183C>T (p.Cys61=)
|
rs140610221
|
0.00002
|
|
NM_004329.3(BMPR1A):c.27A>G (p.Arg9=)
|
rs751420248
|
0.00002
|
|
NM_004329.3(BMPR1A):c.30A>G (p.Leu10=)
|
rs754752449
|
0.00002
|
|
NM_004329.3(BMPR1A):c.762T>C (p.Arg254=)
|
rs372569976
|
0.00002
|
|
NM_004329.3(BMPR1A):c.765C>T (p.Gly255=)
|
rs786201114
|
0.00002
|
|
NM_004329.3(BMPR1A):c.831C>A (p.Ile277=)
|
rs876659520
|
0.00002
|
|
NM_004329.3(BMPR1A):c.885C>T (p.Asp295=)
|
rs773569581
|
0.00002
|
|
NM_004360.5(CDH1):c.*7C>T
|
rs9282652
|
0.00002
|
|
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)
|
rs373364873
|
0.00002
|
|
NM_004360.5(CDH1):c.1017T>C (p.Pro339=)
|
rs746639322
|
0.00002
|
|
NM_004360.5(CDH1):c.1314A>G (p.Thr438=)
|
rs547316616
|
0.00002
|
|
NM_004360.5(CDH1):c.1488C>T (p.Ser496=)
|
rs751346548
|
0.00002
|
|
NM_004360.5(CDH1):c.1572G>C (p.Arg524=)
|
rs771419468
|
0.00002
|
|
NM_004360.5(CDH1):c.1684A>G (p.Thr562Ala)
|
rs587782061
|
0.00002
|
|
NM_004360.5(CDH1):c.1824G>A (p.Lys608=)
|
rs373987896
|
0.00002
|
|
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln)
|
rs587780117
|
0.00002
|
|
NM_004360.5(CDH1):c.2103C>T (p.Val701=)
|
rs730881656
|
0.00002
|
|
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
|
rs121964871
|
0.00002
|
|
NM_004360.5(CDH1):c.2157T>G (p.Ala719=)
|
rs762224244
|
0.00002
|
|
NM_004360.5(CDH1):c.2254G>A (p.Val752Ile)
|
rs587781351
|
0.00002
|
|
NM_004360.5(CDH1):c.2261A>G (p.Tyr754Cys)
|
rs767613429
|
0.00002
|
|
NM_004360.5(CDH1):c.2296-14T>C
|
rs755950355
|
0.00002
|
|
NM_004360.5(CDH1):c.2346G>A (p.Val782=)
|
rs770269419
|
0.00002
|
|
NM_004360.5(CDH1):c.2355C>T (p.Asn785=)
|
rs375988871
|
0.00002
|
|
NM_004360.5(CDH1):c.2399G>A (p.Arg800His)
|
rs370345996
|
0.00002
|
|
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln)
|
rs587782647
|
0.00002
|
|
NM_004360.5(CDH1):c.344C>T (p.Thr115Met)
|
rs370973869
|
0.00002
|
|
NM_004360.5(CDH1):c.378G>A (p.Pro126=)
|
rs786201504
|
0.00002
|
|
NM_004360.5(CDH1):c.388-8C>T
|
rs774601444
|
0.00002
|
|
NM_004360.5(CDH1):c.420C>G (p.Leu140=)
|
rs763562818
|
0.00002
|
|
NM_004360.5(CDH1):c.510A>G (p.Pro170=)
|
rs774962542
|
0.00002
|
|
NM_004360.5(CDH1):c.636A>G (p.Gly212=)
|
rs758991562
|
0.00002
|
|
NM_004360.5(CDH1):c.900C>T (p.Ile300=)
|
rs775452740
|
0.00002
|
|
NM_004360.5(CDH1):c.906C>T (p.Tyr302=)
|
rs370197479
|
0.00002
|
|
NM_004360.5(CDH1):c.918C>T (p.Ser306=)
|
rs761516528
|
0.00002
|
|
NM_004360.5(CDH1):c.957T>A (p.Ile319=)
|
rs549252135
|
0.00002
|
|
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)
|
rs386833933
|
0.00002
|
|
NM_004655.4(AXIN2):c.1191G>A (p.Gln397=)
|
rs1360433499
|
0.00002
|
|
NM_004655.4(AXIN2):c.1272C>G (p.Ser424=)
|
rs768259872
|
0.00002
|
|
NM_004655.4(AXIN2):c.135C>T (p.Val45=)
|
rs376726966
|
0.00002
|
|
NM_004655.4(AXIN2):c.1479G>A (p.Ser493=)
|
rs1057522399
|
0.00002
|
|
NM_004655.4(AXIN2):c.1800C>T (p.Pro600=)
|
rs758310996
|
0.00002
|
|
NM_004655.4(AXIN2):c.2010C>G (p.Pro670=)
|
rs781484593
|
0.00002
|
|
NM_004655.4(AXIN2):c.2013C>T (p.Arg671=)
|
rs1479024977
|
0.00002
|
|
NM_004655.4(AXIN2):c.2073C>G (p.Pro691=)
|
rs781738256
|
0.00002
|
|
NM_004655.4(AXIN2):c.399G>A (p.Ala133=)
|
rs754867315
|
0.00002
|
|
NM_004655.4(AXIN2):c.522G>T (p.Ala174=)
|
rs780914406
|
0.00002
|
|
NM_004655.4(AXIN2):c.534C>T (p.Ile178=)
|
rs751537079
|
0.00002
|
|
NM_004655.4(AXIN2):c.711C>T (p.Ala237=)
|
rs768230770
|
0.00002
|
|
NM_004655.4(AXIN2):c.774G>A (p.Thr258=)
|
rs776060531
|
0.00002
|
|
NM_004655.4(AXIN2):c.897C>T (p.Asp299=)
|
rs748143308
|
0.00002
|
|
NM_004656.4(BAP1):c.1074G>A (p.Pro358=)
|
rs767746031
|
0.00002
|
|
NM_004656.4(BAP1):c.1225G>A (p.Val409Met)
|
rs756443059
|
0.00002
|
|
NM_004656.4(BAP1):c.1251-11G>A
|
rs981419588
|
0.00002
|
|
NM_004656.4(BAP1):c.1422G>A (p.Pro474=)
|
rs199888129
|
0.00002
|
|
NM_004656.4(BAP1):c.1434G>A (p.Val478=)
|
rs777484307
|
0.00002
|
|
NM_004656.4(BAP1):c.1485G>A (p.Thr495=)
|
rs368369242
|
0.00002
|
|
NM_004656.4(BAP1):c.1527G>A (p.Ser509=)
|
rs756500771
|
0.00002
|
|
NM_004656.4(BAP1):c.1536C>T (p.Arg512=)
|
rs754653135
|
0.00002
|
|
NM_004656.4(BAP1):c.1551G>A (p.Thr517=)
|
rs145158446
|
0.00002
|
|
NM_004656.4(BAP1):c.1614G>A (p.Leu538=)
|
rs1335001283
|
0.00002
|
|
NM_004656.4(BAP1):c.1734T>A (p.Gly578=)
|
rs545682192
|
0.00002
|
|
NM_004656.4(BAP1):c.1806G>A (p.Glu602=)
|
rs759423683
|
0.00002
|
|
NM_004656.4(BAP1):c.2076G>A (p.Val692=)
|
rs747712653
|
0.00002
|
|
NM_004656.4(BAP1):c.210C>T (p.Ser70=)
|
rs558581070
|
0.00002
|
|
NM_004656.4(BAP1):c.358A>G (p.Lys120Glu)
|
rs774573926
|
0.00002
|
|
NM_004656.4(BAP1):c.597C>T (p.Asp199=)
|
rs747458975
|
0.00002
|
|
NM_004656.4(BAP1):c.648C>T (p.Leu216=)
|
rs758650064
|
0.00002
|
|
NM_004656.4(BAP1):c.738T>C (p.His246=)
|
rs373722238
|
0.00002
|
|
NM_004656.4(BAP1):c.900G>A (p.Arg300=)
|
rs752480391
|
0.00002
|
|
NM_004656.4(BAP1):c.924C>T (p.Asn308=)
|
rs749945143
|
0.00002
|
|
NM_004656.4(BAP1):c.932-9_932-8del
|
rs773809939
|
0.00002
|
|
NM_004656.4(BAP1):c.995C>T (p.Pro332Leu)
|
rs772070350
|
0.00002
|
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
|
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter)
|
rs74315512
|
0.00002
|
|
NM_005359.6(SMAD4):c.1140-11T>A
|
rs1224777335
|
0.00002
|
|
NM_005359.6(SMAD4):c.132A>G (p.Val44=)
|
rs965942065
|
0.00002
|
|
NM_005359.6(SMAD4):c.1461T>A (p.Ala487=)
|
rs769607309
|
0.00002
|
|
NM_005359.6(SMAD4):c.1611C>T (p.Asp537=)
|
rs369598262
|
0.00002
|
|
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=)
|
rs549489716
|
0.00002
|
|
NM_005359.6(SMAD4):c.294C>T (p.Leu98=)
|
rs202126703
|
0.00002
|
|
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=)
|
rs757211048
|
0.00002
|
|
NM_005359.6(SMAD4):c.369T>C (p.Cys123=)
|
rs140926102
|
0.00002
|
|
NM_005359.6(SMAD4):c.667+3G>A
|
rs757971589
|
0.00002
|
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
|
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)
|
rs762106720
|
0.00002
|
|
NM_006231.4(POLE):c.1008T>C (p.Asn336=)
|
rs754405980
|
0.00002
|
|
NM_006231.4(POLE):c.1089C>T (p.Asn363=)
|
rs146639652
|
0.00002
|
|
NM_006231.4(POLE):c.1092G>A (p.Gly364=)
|
rs749415346
|
0.00002
|
|
NM_006231.4(POLE):c.1137C>T (p.His379=)
|
rs376333939
|
0.00002
|
|
NM_006231.4(POLE):c.1377T>G (p.Ser459=)
|
rs759923098
|
0.00002
|
|
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)
|
rs200928781
|
0.00002
|
|
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)
|
rs373073383
|
0.00002
|
|
NM_007194.4(CHEK2):c.1203T>C (p.Thr401=)
|
rs560781587
|
0.00002
|
|
NM_007194.4(CHEK2):c.1462-7C>G
|
rs730881707
|
0.00002
|
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
|
NM_007194.4(CHEK2):c.432T>C (p.Phe144=)
|
rs876658374
|
0.00002
|
|
NM_007194.4(CHEK2):c.600C>G (p.Val200=)
|
rs141685349
|
0.00002
|
|
NM_007194.4(CHEK2):c.660C>T (p.Tyr220=)
|
rs876659987
|
0.00002
|
|
NM_007194.4(CHEK2):c.793-17T>C
|
rs778511901
|
0.00002
|
|
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)
|
rs587782460
|
0.00002
|
|
NM_007194.4(CHEK2):c.908+6T>C
|
rs748988275
|
0.00002
|
|
NM_015346.4(ZFYVE26):c.5791-6G>A
|
rs771906344
|
0.00002
|
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
|
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)
|
rs764622793
|
0.00002
|
|
NM_019098.5(CNGB3):c.1320+4A>G
|
rs1026427970
|
0.00002
|
|
NM_020533.3(MCOLN1):c.362C>T (p.Thr121Met)
|
rs750170007
|
0.00002
|
|
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)
|
rs200127630
|
0.00002
|
|
NM_024675.4(PALB2):c.1191A>G (p.Thr397=)
|
rs1597096781
|
0.00002
|
|
NM_024675.4(PALB2):c.1311A>G (p.Lys437=)
|
rs190489275
|
0.00002
|
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
|
NM_024675.4(PALB2):c.1599T>C (p.Thr533=)
|
rs786201088
|
0.00002
|
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
|
NM_024675.4(PALB2):c.2253T>C (p.Ala751=)
|
rs138514571
|
0.00002
|
|
NM_024675.4(PALB2):c.2319T>C (p.Thr773=)
|
rs562168734
|
0.00002
|
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
rs201042302
|
0.00002
|
|
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)
|
rs45464991
|
0.00002
|
|
NM_024675.4(PALB2):c.2418G>A (p.Pro806=)
|
rs577076372
|
0.00002
|
|
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser)
|
rs515726094
|
0.00002
|
|
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)
|
rs45464500
|
0.00002
|
|
NM_024675.4(PALB2):c.2859T>C (p.Asp953=)
|
rs515726101
|
0.00002
|
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
rs369132015
|
0.00002
|
|
NM_024675.4(PALB2):c.2979G>A (p.Thr993=)
|
rs772357409
|
0.00002
|
|
NM_024675.4(PALB2):c.304G>A (p.Val102Ile)
|
rs778573607
|
0.00002
|
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
|
NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly)
|
rs786203345
|
0.00002
|
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
|
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)
|
rs515726116
|
0.00002
|
|
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=)
|
rs748363227
|
0.00002
|
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
|
NM_024675.4(PALB2):c.807T>C (p.Gly269=)
|
rs180177093
|
0.00002
|
|
NM_024675.4(PALB2):c.897T>C (p.Ser299=)
|
rs180177095
|
0.00002
|
|
NM_024675.4(PALB2):c.90G>A (p.Lys30=)
|
rs515726130
|
0.00002
|
|
NM_024675.4(PALB2):c.915A>G (p.Val305=)
|
rs748881930
|
0.00002
|
|
NM_024675.4(PALB2):c.942A>G (p.Gln314=)
|
rs1156931572
|
0.00002
|
|
NM_024675.4(PALB2):c.995T>A (p.Leu332His)
|
rs377149139
|
0.00002
|
|
NM_024685.4(BBS10):c.1230T>G (p.His410Gln)
|
rs1447555059
|
0.00002
|
|
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)
|
rs886043059
|
0.00002
|
|
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg)
|
rs45501097
|
0.00002
|
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00002
|
|
NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys)
|
rs773998134
|
0.00002
|
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
|
NM_058216.3(RAD51C):c.746G>A (p.Arg249His)
|
rs730881925
|
0.00002
|
|
NM_058216.3(RAD51C):c.837+1G>A
|
rs760235677
|
0.00002
|
|
NM_058216.3(RAD51C):c.945T>C (p.Phe315=)
|
rs201235884
|
0.00002
|
|
NM_138694.4(PKHD1):c.390+1G>T
|
rs752327566
|
0.00002
|
|
NM_144997.7(FLCN):c.1021C>T (p.Arg341Trp)
|
rs770396757
|
0.00002
|
|
NM_144997.7(FLCN):c.108G>A (p.Glu36=)
|
rs1256048813
|
0.00002
|
|
NM_144997.7(FLCN):c.1101C>T (p.His367=)
|
rs1451481907
|
0.00002
|
|
NM_144997.7(FLCN):c.1133G>A (p.Ser378Asn)
|
rs769489773
|
0.00002
|
|
NM_144997.7(FLCN):c.1242G>T (p.Arg414=)
|
rs376836624
|
0.00002
|
|
NM_144997.7(FLCN):c.1257G>A (p.Gly419=)
|
rs747171802
|
0.00002
|
|
NM_144997.7(FLCN):c.1301-20C>T
|
rs370464300
|
0.00002
|
|
NM_144997.7(FLCN):c.1311C>A (p.Val437=)
|
rs1002586963
|
0.00002
|
|
NM_144997.7(FLCN):c.1509C>T (p.Cys503=)
|
rs927844338
|
0.00002
|
|
NM_144997.7(FLCN):c.1559A>G (p.Lys520Arg)
|
rs142288285
|
0.00002
|
|
NM_144997.7(FLCN):c.1725G>A (p.Ser575=)
|
rs760307957
|
0.00002
|
|
NM_144997.7(FLCN):c.180G>A (p.Ala60=)
|
rs1203041436
|
0.00002
|
|
NM_144997.7(FLCN):c.204C>T (p.Ser68=)
|
rs371947198
|
0.00002
|
|
NM_144997.7(FLCN):c.208G>A (p.Glu70Lys)
|
rs554247745
|
0.00002
|
|
NM_144997.7(FLCN):c.249+4A>G
|
rs753648691
|
0.00002
|
|
NM_144997.7(FLCN):c.279G>A (p.Pro93=)
|
rs138688941
|
0.00002
|
|
NM_144997.7(FLCN):c.43G>A (p.Gly15Ser)
|
rs539468848
|
0.00002
|
|
NM_144997.7(FLCN):c.489C>A (p.Ala163=)
|
rs775176038
|
0.00002
|
|
NM_144997.7(FLCN):c.591C>T (p.Ile197=)
|
rs763617124
|
0.00002
|
|
NM_144997.7(FLCN):c.720G>A (p.Ser240=)
|
rs186366202
|
0.00002
|
|
NM_144997.7(FLCN):c.874T>C (p.Leu292=)
|
rs759503601
|
0.00002
|
|
NM_144997.7(FLCN):c.915A>G (p.Glu305=)
|
rs551034228
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
|
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)
|
rs754875934
|
0.00002
|
|
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys)
|
rs398124580
|
0.00002
|
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
|
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)
|
rs1337929727
|
0.00001
|
|
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)
|
rs875989876
|
0.00001
|
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
|
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)
|
rs118204015
|
0.00001
|
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
|
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)
|
rs794727112
|
0.00001
|
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
|
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)
|
rs140629318
|
0.00001
|
|
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)
|
rs749159573
|
0.00001
|
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
|
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)
|
rs1591363760
|
0.00001
|
|
NM_000022.4(ADA):c.1A>G (p.Met1Val)
|
rs1363043396
|
0.00001
|
|
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)
|
rs757888349
|
0.00001
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
0.00001
|
|
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro)
|
rs180177165
|
0.00001
|
|
NM_000038.6(APC):c.1029C>T (p.Ser343=)
|
rs762233995
|
0.00001
|
|
NM_000038.6(APC):c.1050T>G (p.Ser350=)
|
rs760345157
|
0.00001
|
|
NM_000038.6(APC):c.1089T>C (p.Asn363=)
|
rs754925114
|
0.00001
|
|
NM_000038.6(APC):c.1110G>A (p.Leu370=)
|
rs1439967202
|
0.00001
|
|
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)
|
rs141582813
|
0.00001
|
|
NM_000038.6(APC):c.1155A>G (p.Ala385=)
|
rs1554080041
|
0.00001
|
|
NM_000038.6(APC):c.1188T>C (p.Asp396=)
|
rs1554080056
|
0.00001
|
|
NM_000038.6(APC):c.1272G>A (p.Gln424=)
|
rs778975532
|
0.00001
|
|
NM_000038.6(APC):c.1299G>A (p.Gln433=)
|
rs141726130
|
0.00001
|
|
NM_000038.6(APC):c.1317A>G (p.Pro439=)
|
rs761821491
|
0.00001
|
|
NM_000038.6(APC):c.1344T>A (p.Pro448=)
|
rs752774532
|
0.00001
|
|
NM_000038.6(APC):c.1359A>G (p.Leu453=)
|
rs751945983
|
0.00001
|
|
NM_000038.6(APC):c.1489C>T (p.Leu497=)
|
rs768973715
|
0.00001
|
|
NM_000038.6(APC):c.153A>G (p.Leu51=)
|
rs1554069500
|
0.00001
|
|
NM_000038.6(APC):c.1596A>G (p.Gln532=)
|
rs1331131200
|
0.00001
|
|
NM_000038.6(APC):c.1614A>G (p.Glu538=)
|
rs772204077
|
0.00001
|
|
NM_000038.6(APC):c.1617C>T (p.Asp539=)
|
rs1554081912
|
0.00001
|
|
NM_000038.6(APC):c.1632T>C (p.Ile544=)
|
rs758661066
|
0.00001
|
|
NM_000038.6(APC):c.1642T>G (p.Leu548Val)
|
rs1060503373
|
0.00001
|
|
NM_000038.6(APC):c.1662A>C (p.Arg554=)
|
rs1057521976
|
0.00001
|
|
NM_000038.6(APC):c.1668T>C (p.Asp556=)
|
rs377045570
|
0.00001
|
|
NM_000038.6(APC):c.1691G>A (p.Arg564Gln)
|
rs747418061
|
0.00001
|
|
NM_000038.6(APC):c.1722A>G (p.Glu574=)
|
rs786201277
|
0.00001
|
|
NM_000038.6(APC):c.1744-14C>A
|
rs761403505
|
0.00001
|
|
NM_000038.6(APC):c.1746A>G (p.Glu582=)
|
rs876658969
|
0.00001
|
|
NM_000038.6(APC):c.1815T>C (p.Asp605=)
|
rs1239983557
|
0.00001
|
|
NM_000038.6(APC):c.1824T>A (p.Ala608=)
|
rs1455415709
|
0.00001
|
|
NM_000038.6(APC):c.1854C>T (p.Gly618=)
|
rs780188104
|
0.00001
|
|
NM_000038.6(APC):c.1863T>C (p.Thr621=)
|
rs72541808
|
0.00001
|
|
NM_000038.6(APC):c.1866C>T (p.Tyr622=)
|
rs876658355
|
0.00001
|
|
NM_000038.6(APC):c.189T>C (p.Ser63=)
|
rs759352811
|
0.00001
|
|
NM_000038.6(APC):c.18T>C (p.Tyr6=)
|
rs786202301
|
0.00001
|
|
NM_000038.6(APC):c.1941T>C (p.Ala647=)
|
rs1554083247
|
0.00001
|
|
NM_000038.6(APC):c.1958+5A>G
|
rs762899641
|
0.00001
|
|
NM_000038.6(APC):c.1965C>T (p.Ile655=)
|
rs765309567
|
0.00001
|
|
NM_000038.6(APC):c.2013T>G (p.Ser671=)
|
rs145356265
|
0.00001
|
|
NM_000038.6(APC):c.2043T>C (p.Cys681=)
|
rs786203136
|
0.00001
|
|
NM_000038.6(APC):c.2073T>C (p.Asn691=)
|
rs768685742
|
0.00001
|
|
NM_000038.6(APC):c.2091A>G (p.Ala697=)
|
rs541317651
|
0.00001
|
|
NM_000038.6(APC):c.2100C>T (p.Asp700=)
|
rs376487701
|
0.00001
|
|
NM_000038.6(APC):c.2121C>G (p.Leu707=)
|
rs1174765539
|
0.00001
|
|
NM_000038.6(APC):c.216T>C (p.Leu72=)
|
rs1580324752
|
0.00001
|
|
NM_000038.6(APC):c.2187C>T (p.Leu729=)
|
rs376015279
|
0.00001
|
|
NM_000038.6(APC):c.220+2T>A
|
rs587781809
|
0.00001
|
|
NM_000038.6(APC):c.2203G>C (p.Ala735Pro)
|
rs559313229
|
0.00001
|
|
NM_000038.6(APC):c.2268A>G (p.Lys756=)
|
rs1306997303
|
0.00001
|
|
NM_000038.6(APC):c.2280A>G (p.Leu760=)
|
rs767947015
|
0.00001
|
|
NM_000038.6(APC):c.228C>T (p.Asn76=)
|
rs766325173
|
0.00001
|
|
NM_000038.6(APC):c.2325T>C (p.Asn775=)
|
rs779918968
|
0.00001
|
|
NM_000038.6(APC):c.2335T>C (p.Leu779=)
|
rs369138788
|
0.00001
|
|
NM_000038.6(APC):c.2385C>T (p.Leu795=)
|
rs80188155
|
0.00001
|
|
NM_000038.6(APC):c.2433A>G (p.Ser811=)
|
rs768177978
|
0.00001
|
|
NM_000038.6(APC):c.2454C>T (p.Asn818=)
|
rs1554084178
|
0.00001
|
|
NM_000038.6(APC):c.2463C>T (p.Val821=)
|
rs876658738
|
0.00001
|
|
NM_000038.6(APC):c.2469A>C (p.Ser823=)
|
rs1765189659
|
0.00001
|
|
NM_000038.6(APC):c.246C>T (p.Phe82=)
|
rs755478426
|
0.00001
|
|
NM_000038.6(APC):c.2472A>T (p.Pro824=)
|
rs746965994
|
0.00001
|
|
NM_000038.6(APC):c.2487A>G (p.Thr829=)
|
rs774460348
|
0.00001
|
|
NM_000038.6(APC):c.2527A>G (p.Ser843Gly)
|
rs536223189
|
0.00001
|
|
NM_000038.6(APC):c.252A>G (p.Gly84=)
|
rs375051600
|
0.00001
|
|
NM_000038.6(APC):c.2547T>C (p.Asp849=)
|
rs766086010
|
0.00001
|
|
NM_000038.6(APC):c.2578C>T (p.Leu860=)
|
rs1422929581
|
0.00001
|
|
NM_000038.6(APC):c.2613A>C (p.Gly871=)
|
rs36046448
|
0.00001
|
|
NM_000038.6(APC):c.2626C>A (p.Arg876=)
|
rs121913333
|
0.00001
|
|
NM_000038.6(APC):c.2631T>A (p.Gly877=)
|
rs762629631
|
0.00001
|
|
NM_000038.6(APC):c.2664C>A (p.Ala888=)
|
rs939537800
|
0.00001
|
|
NM_000038.6(APC):c.2677G>A (p.Glu893Lys)
|
rs199740875
|
0.00001
|
|
NM_000038.6(APC):c.2697C>T (p.Thr899=)
|
rs1183756347
|
0.00001
|
|
NM_000038.6(APC):c.2745G>A (p.Val915=)
|
rs761286097
|
0.00001
|
|
NM_000038.6(APC):c.2763A>G (p.Ala921=)
|
rs750259615
|
0.00001
|
|
NM_000038.6(APC):c.2808T>C (p.Asn936=)
|
rs757221580
|
0.00001
|
|
NM_000038.6(APC):c.2811C>T (p.Phe937=)
|
rs781367306
|
0.00001
|
|
NM_000038.6(APC):c.2832T>C (p.Asn944=)
|
rs768286117
|
0.00001
|
|
NM_000038.6(APC):c.2853T>C (p.Tyr951=)
|
rs575406600
|
0.00001
|
|
NM_000038.6(APC):c.2860T>C (p.Leu954=)
|
rs863224278
|
0.00001
|
|
NM_000038.6(APC):c.2898T>C (p.Ser966=)
|
rs876660579
|
0.00001
|
|
NM_000038.6(APC):c.2916T>C (p.Gly972=)
|
rs1765293802
|
0.00001
|
|
NM_000038.6(APC):c.2919T>C (p.Tyr973=)
|
rs756609845
|
0.00001
|
|
NM_000038.6(APC):c.2958T>C (p.Tyr986=)
|
rs746581330
|
0.00001
|
|
NM_000038.6(APC):c.2976T>C (p.Ser992=)
|
rs776646018
|
0.00001
|
|
NM_000038.6(APC):c.2985C>T (p.Cys995=)
|
rs1339472818
|
0.00001
|
|
NM_000038.6(APC):c.2991T>C (p.Tyr997=)
|
rs864622629
|
0.00001
|
|
NM_000038.6(APC):c.3027T>C (p.His1009=)
|
rs938418357
|
0.00001
|
|
NM_000038.6(APC):c.3123A>G (p.Gln1041=)
|
rs537501804
|
0.00001
|
|
NM_000038.6(APC):c.3138T>C (p.Asn1046=)
|
rs1765342541
|
0.00001
|
|
NM_000038.6(APC):c.3161A>C (p.His1054Pro)
|
rs777538550
|
0.00001
|
|
NM_000038.6(APC):c.3183A>G (p.Lys1061=)
|
rs1580632127
|
0.00001
|
|
NM_000038.6(APC):c.3195A>G (p.Gln1065=)
|
rs1554084837
|
0.00001
|
|
NM_000038.6(APC):c.3201A>G (p.Gln1067=)
|
rs1216272276
|
0.00001
|
|
NM_000038.6(APC):c.3207G>A (p.Arg1069=)
|
rs762867687
|
0.00001
|
|
NM_000038.6(APC):c.3225T>C (p.Tyr1075=)
|
rs768123840
|
0.00001
|
|
NM_000038.6(APC):c.3246T>C (p.Thr1082=)
|
rs1765373337
|
0.00001
|
|
NM_000038.6(APC):c.3258C>T (p.His1086=)
|
rs778031876
|
0.00001
|
|
NM_000038.6(APC):c.3270A>G (p.Gln1090=)
|
rs780818655
|
0.00001
|
|
NM_000038.6(APC):c.3303A>G (p.Pro1101=)
|
rs587780594
|
0.00001
|
|
NM_000038.6(APC):c.3340C>A (p.Arg1114=)
|
rs121913331
|
0.00001
|
|
NM_000038.6(APC):c.3342A>G (p.Arg1114=)
|
rs786201145
|
0.00001
|
|
NM_000038.6(APC):c.3393A>G (p.Gln1131=)
|
rs545574962
|
0.00001
|
|
NM_000038.6(APC):c.3429T>C (p.Tyr1143=)
|
rs1554084999
|
0.00001
|
|
NM_000038.6(APC):c.3543A>G (p.Leu1181=)
|
rs746082418
|
0.00001
|
|
NM_000038.6(APC):c.3555A>G (p.Thr1185=)
|
rs786201125
|
0.00001
|
|
NM_000038.6(APC):c.3567A>G (p.Ser1189=)
|
rs774935084
|
0.00001
|
|
NM_000038.6(APC):c.3606T>C (p.Ser1202=)
|
rs864622117
|
0.00001
|
|
NM_000038.6(APC):c.3653C>T (p.Thr1218Met)
|
rs377640390
|
0.00001
|
|
NM_000038.6(APC):c.3696T>C (p.His1232=)
|
rs1060504897
|
0.00001
|
|
NM_000038.6(APC):c.36A>G (p.Gln12=)
|
rs864622288
|
0.00001
|
|
NM_000038.6(APC):c.3708A>G (p.Ala1236=)
|
rs864622694
|
0.00001
|
|
NM_000038.6(APC):c.372A>G (p.Val124=)
|
rs749179034
|
0.00001
|
|
NM_000038.6(APC):c.375T>C (p.Asn125=)
|
rs768615558
|
0.00001
|
|
NM_000038.6(APC):c.3795A>G (p.Glu1265=)
|
rs1554085311
|
0.00001
|
|
NM_000038.6(APC):c.3798T>C (p.Asp1266=)
|
rs1488397941
|
0.00001
|
|
NM_000038.6(APC):c.3804A>G (p.Pro1268=)
|
rs878853442
|
0.00001
|
|
NM_000038.6(APC):c.3822T>C (p.Cys1274=)
|
rs1554085326
|
0.00001
|
|
NM_000038.6(APC):c.384A>G (p.Arg128=)
|
rs876659284
|
0.00001
|
|
NM_000038.6(APC):c.3897T>A (p.Ala1299=)
|
rs1057521474
|
0.00001
|
|
NM_000038.6(APC):c.3906G>A (p.Leu1302=)
|
rs756366532
|
0.00001
|
|
NM_000038.6(APC):c.3909A>G (p.Gln1303=)
|
rs746289994
|
0.00001
|
|
NM_000038.6(APC):c.3960G>C (p.Val1320=)
|
rs987999780
|
0.00001
|
|
NM_000038.6(APC):c.4005C>T (p.Ser1335=)
|
rs751729992
|
0.00001
|
|
NM_000038.6(APC):c.4035A>G (p.Glu1345=)
|
rs1060504886
|
0.00001
|
|
NM_000038.6(APC):c.4053T>C (p.Ala1351=)
|
rs773727399
|
0.00001
|
|
NM_000038.6(APC):c.4074G>A (p.Ala1358=)
|
rs149782464
|
0.00001
|
|
NM_000038.6(APC):c.4104A>G (p.Thr1368=)
|
rs1300729539
|
0.00001
|
|
NM_000038.6(APC):c.4119T>A (p.Pro1373=)
|
rs1248565162
|
0.00001
|
|
NM_000038.6(APC):c.4122A>G (p.Glu1374=)
|
rs767619059
|
0.00001
|
|
NM_000038.6(APC):c.4143A>C (p.Pro1381=)
|
rs778565823
|
0.00001
|
|
NM_000038.6(APC):c.4167T>C (p.Ser1389=)
|
rs747757364
|
0.00001
|
|
NM_000038.6(APC):c.4209C>T (p.Ser1403=)
|
rs1554085619
|
0.00001
|
|
NM_000038.6(APC):c.4242A>G (p.Val1414=)
|
rs779172940
|
0.00001
|
|
NM_000038.6(APC):c.4278C>T (p.Ser1426=)
|
rs1383334936
|
0.00001
|
|
NM_000038.6(APC):c.4341A>G (p.Gln1447=)
|
rs777153373
|
0.00001
|
|
NM_000038.6(APC):c.4347G>A (p.Lys1449=)
|
rs759982621
|
0.00001
|
|
NM_000038.6(APC):c.4365T>C (p.Asn1455=)
|
rs568891310
|
0.00001
|
|
NM_000038.6(APC):c.4376C>G (p.Thr1459Ser)
|
rs756048549
|
0.00001
|
|
NM_000038.6(APC):c.4413A>G (p.Ala1471=)
|
rs964029262
|
0.00001
|
|
NM_000038.6(APC):c.4437C>T (p.Val1479=)
|
rs776622357
|
0.00001
|
|
NM_000038.6(APC):c.4443T>C (p.Val1481=)
|
rs1241257709
|
0.00001
|
|
NM_000038.6(APC):c.4464A>G (p.Leu1488=)
|
rs1312207257
|
0.00001
|
|
NM_000038.6(APC):c.4494T>C (p.Asp1498=)
|
rs1580648891
|
0.00001
|
|
NM_000038.6(APC):c.4515C>T (p.Ser1505=)
|
rs1217842024
|
0.00001
|
|
NM_000038.6(APC):c.4518G>A (p.Leu1506=)
|
rs1554085932
|
0.00001
|
|
NM_000038.6(APC):c.4542A>G (p.Pro1514=)
|
rs1459239401
|
0.00001
|
|
NM_000038.6(APC):c.4599T>C (p.Asn1533=)
|
rs876658897
|
0.00001
|
|
NM_000038.6(APC):c.459G>A (p.Lys153=)
|
rs864622482
|
0.00001
|
|
NM_000038.6(APC):c.465A>G (p.Lys155=)
|
rs778691867
|
0.00001
|
|
NM_000038.6(APC):c.4668T>G (p.Thr1556=)
|
rs1554086074
|
0.00001
|
|
NM_000038.6(APC):c.4680A>G (p.Glu1560=)
|
rs1765740199
|
0.00001
|
|
NM_000038.6(APC):c.4686C>T (p.Asp1562=)
|
rs72541812
|
0.00001
|
|
NM_000038.6(APC):c.4740T>C (p.Ile1580=)
|
rs760033815
|
0.00001
|
|
NM_000038.6(APC):c.4776A>G (p.Lys1592=)
|
rs878853452
|
0.00001
|
|
NM_000038.6(APC):c.4785C>G (p.Ala1595=)
|
rs201287984
|
0.00001
|
|
NM_000038.6(APC):c.480T>A (p.Ala160=)
|
rs758296324
|
0.00001
|
|
NM_000038.6(APC):c.4854A>G (p.Leu1618=)
|
rs377666490
|
0.00001
|
|
NM_000038.6(APC):c.4857A>G (p.Pro1619=)
|
rs564651232
|
0.00001
|
|
NM_000038.6(APC):c.4899A>C (p.Thr1633=)
|
rs926773764
|
0.00001
|
|
NM_000038.6(APC):c.4902G>A (p.Pro1634=)
|
rs876659202
|
0.00001
|
|
NM_000038.6(APC):c.4906G>T (p.Asp1636Tyr)
|
rs730882128
|
0.00001
|
|
NM_000038.6(APC):c.4962T>C (p.Ala1654=)
|
rs551322279
|
0.00001
|
|
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)
|
rs587779796
|
0.00001
|
|
NM_000038.6(APC):c.5038C>T (p.Gln1680Ter)
|
rs754122018
|
0.00001
|
|
NM_000038.6(APC):c.5136A>G (p.Glu1712=)
|
rs573531013
|
0.00001
|
|
NM_000038.6(APC):c.5145C>T (p.Asp1715=)
|
rs1391225195
|
0.00001
|
|
NM_000038.6(APC):c.516T>C (p.Leu172=)
|
rs777643585
|
0.00001
|
|
NM_000038.6(APC):c.5232A>G (p.Lys1744=)
|
rs1057520431
|
0.00001
|
|
NM_000038.6(APC):c.5244C>T (p.Asp1748=)
|
rs748776990
|
0.00001
|
|
NM_000038.6(APC):c.5290C>G (p.Gln1764Glu)
|
rs529543591
|
0.00001
|
|
NM_000038.6(APC):c.5304G>A (p.Lys1768=)
|
rs863224285
|
0.00001
|
|
NM_000038.6(APC):c.5376T>C (p.Asn1792=)
|
rs76364845
|
0.00001
|
|
NM_000038.6(APC):c.5403T>C (p.Ala1801=)
|
rs750936426
|
0.00001
|
|
NM_000038.6(APC):c.5424C>T (p.Asn1808=)
|
rs747721259
|
0.00001
|
|
NM_000038.6(APC):c.5451A>G (p.Lys1817=)
|
rs1004701019
|
0.00001
|
|
NM_000038.6(APC):c.5463G>A (p.Lys1821=)
|
rs1319199935
|
0.00001
|
|
NM_000038.6(APC):c.5472T>C (p.Asn1824=)
|
rs200742564
|
0.00001
|
|
NM_000038.6(APC):c.5500G>A (p.Val1834Ile)
|
rs555944438
|
0.00001
|
|
NM_000038.6(APC):c.5526A>G (p.Ser1842=)
|
rs577725739
|
0.00001
|
|
NM_000038.6(APC):c.5529T>A (p.Pro1843=)
|
rs1060504894
|
0.00001
|
|
NM_000038.6(APC):c.5541G>A (p.Thr1847=)
|
rs777449060
|
0.00001
|
|
NM_000038.6(APC):c.5544T>C (p.Pro1848=)
|
rs1294772411
|
0.00001
|
|
NM_000038.6(APC):c.5559T>C (p.Pro1853=)
|
rs1407859071
|
0.00001
|
|
NM_000038.6(APC):c.5619C>T (p.Asp1873=)
|
rs755764542
|
0.00001
|
|
NM_000038.6(APC):c.565T>C (p.Leu189=)
|
rs762146761
|
0.00001
|
|
NM_000038.6(APC):c.5670A>G (p.Ser1890=)
|
rs945185629
|
0.00001
|
|
NM_000038.6(APC):c.5676T>C (p.Ala1892=)
|
rs978239155
|
0.00001
|
|
NM_000038.6(APC):c.5685C>G (p.Thr1895=)
|
rs148592182
|
0.00001
|
|
NM_000038.6(APC):c.5698C>T (p.Leu1900=)
|
rs944332850
|
0.00001
|
|
NM_000038.6(APC):c.5709C>T (p.Asn1903=)
|
rs1371378897
|
0.00001
|
|
NM_000038.6(APC):c.5712A>G (p.Gln1904=)
|
rs755851369
|
0.00001
|
|
NM_000038.6(APC):c.5718A>C (p.Ser1906=)
|
rs1060504879
|
0.00001
|
|
NM_000038.6(APC):c.5775C>T (p.Pro1925=)
|
rs562201671
|
0.00001
|
|
NM_000038.6(APC):c.5784G>A (p.Gln1928=)
|
rs761186363
|
0.00001
|
|
NM_000038.6(APC):c.5802C>G (p.Pro1934=)
|
rs876658810
|
0.00001
|
|
NM_000038.6(APC):c.5805G>A (p.Gln1935=)
|
rs377040690
|
0.00001
|
|
NM_000038.6(APC):c.582G>A (p.Arg194=)
|
rs864622103
|
0.00001
|
|
NM_000038.6(APC):c.5841T>G (p.Thr1947=)
|
rs1114167570
|
0.00001
|
|
NM_000038.6(APC):c.5847A>G (p.Glu1949=)
|
rs1554087029
|
0.00001
|
|
NM_000038.6(APC):c.5865T>A (p.Ala1955=)
|
rs1060504868
|
0.00001
|
|
NM_000038.6(APC):c.5901C>T (p.Ser1967=)
|
rs1561603572
|
0.00001
|
|
NM_000038.6(APC):c.5952T>C (p.Asn1984=)
|
rs142019870
|
0.00001
|
|
NM_000038.6(APC):c.5976C>A (p.Pro1992=)
|
rs768878237
|
0.00001
|
|
NM_000038.6(APC):c.597G>A (p.Ala199=)
|
rs587780601
|
0.00001
|
|
NM_000038.6(APC):c.5981A>T (p.Asp1994Val)
|
rs774815653
|
0.00001
|
|
NM_000038.6(APC):c.6063C>T (p.Phe2021=)
|
rs786203342
|
0.00001
|
|
NM_000038.6(APC):c.6090T>C (p.Leu2030=)
|
rs786203943
|
0.00001
|
|
NM_000038.6(APC):c.60C>T (p.Asn20=)
|
rs780155240
|
0.00001
|
|
NM_000038.6(APC):c.6114G>C (p.Leu2038=)
|
rs1580667688
|
0.00001
|
|
NM_000038.6(APC):c.6168C>G (p.Leu2056=)
|
rs878853461
|
0.00001
|
|
NM_000038.6(APC):c.6258A>C (p.Pro2086=)
|
rs1766174069
|
0.00001
|
|
NM_000038.6(APC):c.6306A>G (p.Lys2102=)
|
rs2149961970
|
0.00001
|
|
NM_000038.6(APC):c.6348T>C (p.His2116=)
|
rs1346330298
|
0.00001
|
|
NM_000038.6(APC):c.6366A>T (p.Ala2122=)
|
rs370948574
|
0.00001
|
|
NM_000038.6(APC):c.642A>G (p.Ala214=)
|
rs1580380453
|
0.00001
|
|
NM_000038.6(APC):c.6453A>C (p.Thr2151=)
|
rs1057524298
|
0.00001
|
|
NM_000038.6(APC):c.6487A>C (p.Lys2163Gln)
|
rs759728732
|
0.00001
|
|
NM_000038.6(APC):c.6492C>T (p.Gly2164=)
|
rs765332758
|
0.00001
|
|
NM_000038.6(APC):c.6496C>A (p.Arg2166=)
|
rs764527706
|
0.00001
|
|
NM_000038.6(APC):c.6502C>T (p.Leu2168=)
|
rs767818933
|
0.00001
|
|
NM_000038.6(APC):c.6504A>C (p.Leu2168=)
|
rs750058868
|
0.00001
|
|
NM_000038.6(APC):c.6522T>C (p.Ser2174=)
|
rs370781162
|
0.00001
|
|
NM_000038.6(APC):c.6579A>G (p.Lys2193=)
|
rs908184283
|
0.00001
|
|
NM_000038.6(APC):c.6624A>G (p.Glu2208=)
|
rs886059798
|
0.00001
|
|
NM_000038.6(APC):c.6630A>G (p.Ser2210=)
|
rs746725965
|
0.00001
|
|
NM_000038.6(APC):c.6648C>T (p.Pro2216=)
|
rs776930640
|
0.00001
|
|
NM_000038.6(APC):c.6654A>G (p.Gln2218=)
|
rs1057522994
|
0.00001
|
|
NM_000038.6(APC):c.6675T>C (p.Ser2225=)
|
rs950337714
|
0.00001
|
|
NM_000038.6(APC):c.6684G>A (p.Arg2228=)
|
rs752314977
|
0.00001
|
|
NM_000038.6(APC):c.672C>T (p.Ile224=)
|
rs367816013
|
0.00001
|
|
NM_000038.6(APC):c.6741T>C (p.Ser2247=)
|
rs878853464
|
0.00001
|
|
NM_000038.6(APC):c.6747A>G (p.Lys2249=)
|
rs1196959150
|
0.00001
|
|
NM_000038.6(APC):c.6795A>G (p.Gln2265=)
|
rs779065389
|
0.00001
|
|
NM_000038.6(APC):c.6807T>C (p.Thr2269=)
|
rs946677660
|
0.00001
|
|
NM_000038.6(APC):c.6828A>G (p.Pro2276=)
|
rs758388956
|
0.00001
|
|
NM_000038.6(APC):c.6846A>G (p.Leu2282=)
|
rs747470110
|
0.00001
|
|
NM_000038.6(APC):c.6900T>C (p.Ser2300=)
|
rs202012533
|
0.00001
|
|
NM_000038.6(APC):c.6903A>G (p.Arg2301=)
|
rs1057520984
|
0.00001
|
|
NM_000038.6(APC):c.6954T>C (p.Ser2318=)
|
rs1554087876
|
0.00001
|
|
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)
|
rs1057517549
|
0.00001
|
|
NM_000038.6(APC):c.6981C>T (p.Asn2327=)
|
rs950286984
|
0.00001
|
|
NM_000038.6(APC):c.7032A>G (p.Gln2344=)
|
rs753728632
|
0.00001
|
|
NM_000038.6(APC):c.7041G>A (p.Arg2347=)
|
rs1202582686
|
0.00001
|
|
NM_000038.6(APC):c.7050C>T (p.Ser2350=)
|
rs78556145
|
0.00001
|
|
NM_000038.6(APC):c.7077A>G (p.Ser2359=)
|
rs781472719
|
0.00001
|
|
NM_000038.6(APC):c.7098T>C (p.Tyr2366=)
|
rs561394771
|
0.00001
|
|
NM_000038.6(APC):c.7107A>G (p.Pro2369=)
|
rs778471612
|
0.00001
|
|
NM_000038.6(APC):c.7125A>G (p.Gln2375=)
|
rs587780603
|
0.00001
|
|
NM_000038.6(APC):c.7134T>A (p.Leu2378=)
|
rs1554088049
|
0.00001
|
|
NM_000038.6(APC):c.7218T>C (p.Asn2406=)
|
rs1394893993
|
0.00001
|
|
NM_000038.6(APC):c.7269A>G (p.Lys2423=)
|
rs786203620
|
0.00001
|
|
NM_000038.6(APC):c.7281T>C (p.Ser2427=)
|
rs786201448
|
0.00001
|
|
NM_000038.6(APC):c.7284A>G (p.Glu2428=)
|
rs876658194
|
0.00001
|
|
NM_000038.6(APC):c.7300A>C (p.Arg2434=)
|
rs1363061583
|
0.00001
|
|
NM_000038.6(APC):c.732G>A (p.Arg244=)
|
rs568914667
|
0.00001
|
|
NM_000038.6(APC):c.735A>G (p.Ser245=)
|
rs876659397
|
0.00001
|
|
NM_000038.6(APC):c.7377T>C (p.Ser2459=)
|
rs775573115
|
0.00001
|
|
NM_000038.6(APC):c.7401A>C (p.Pro2467=)
|
rs1290380033
|
0.00001
|
|
NM_000038.6(APC):c.7404A>G (p.Ser2468=)
|
rs863224287
|
0.00001
|
|
NM_000038.6(APC):c.7407T>C (p.Ser2469=)
|
rs1282202968
|
0.00001
|
|
NM_000038.6(APC):c.7425T>A (p.Thr2475=)
|
rs1554088347
|
0.00001
|
|
NM_000038.6(APC):c.7479A>G (p.Leu2493=)
|
rs775954189
|
0.00001
|
|
NM_000038.6(APC):c.747G>A (p.Lys249=)
|
rs878853470
|
0.00001
|
|
NM_000038.6(APC):c.7491G>A (p.Ser2497=)
|
rs776327733
|
0.00001
|
|
NM_000038.6(APC):c.7533C>T (p.Leu2511=)
|
rs1057522957
|
0.00001
|
|
NM_000038.6(APC):c.7578T>C (p.His2526=)
|
rs786201565
|
0.00001
|
|
NM_000038.6(APC):c.759C>G (p.Gly253=)
|
rs746850663
|
0.00001
|
|
NM_000038.6(APC):c.7629G>A (p.Arg2543=)
|
rs780270498
|
0.00001
|
|
NM_000038.6(APC):c.7632A>G (p.Ser2544=)
|
rs749324187
|
0.00001
|
|
NM_000038.6(APC):c.7668A>G (p.Ser2556=)
|
rs1170896529
|
0.00001
|
|
NM_000038.6(APC):c.7674T>G (p.Leu2558=)
|
rs766947421
|
0.00001
|
|
NM_000038.6(APC):c.7716A>G (p.Ser2572=)
|
rs912565312
|
0.00001
|
|
NM_000038.6(APC):c.771T>C (p.Ala257=)
|
rs1554076169
|
0.00001
|
|
NM_000038.6(APC):c.7833A>G (p.Thr2611=)
|
rs1057520909
|
0.00001
|
|
NM_000038.6(APC):c.7914T>A (p.Ala2638=)
|
rs758440266
|
0.00001
|
|
NM_000038.6(APC):c.7932T>A (p.Ile2644=)
|
rs781734502
|
0.00001
|
|
NM_000038.6(APC):c.7977G>A (p.Val2659=)
|
rs1392424178
|
0.00001
|
|
NM_000038.6(APC):c.798G>A (p.Val266=)
|
rs778689157
|
0.00001
|
|
NM_000038.6(APC):c.8001C>T (p.Asn2667=)
|
rs1262892143
|
0.00001
|
|
NM_000038.6(APC):c.8008A>C (p.Arg2670=)
|
rs756875223
|
0.00001
|
|
NM_000038.6(APC):c.8013T>C (p.Ser2671=)
|
rs1294217069
|
0.00001
|
|
NM_000038.6(APC):c.8100T>C (p.Asn2700=)
|
rs761326128
|
0.00001
|
|
NM_000038.6(APC):c.8145C>T (p.Thr2715=)
|
rs1554088935
|
0.00001
|
|
NM_000038.6(APC):c.8181G>A (p.Gln2727=)
|
rs756467505
|
0.00001
|
|
NM_000038.6(APC):c.81A>G (p.Leu27=)
|
rs759312196
|
0.00001
|
|
NM_000038.6(APC):c.8226A>G (p.Gln2742=)
|
rs1404406885
|
0.00001
|
|
NM_000038.6(APC):c.8298C>T (p.Ser2766=)
|
rs876658523
|
0.00001
|
|
NM_000038.6(APC):c.8367C>T (p.Ser2789=)
|
rs786201474
|
0.00001
|
|
NM_000038.6(APC):c.8406A>G (p.Pro2802=)
|
rs1060504895
|
0.00001
|
|
NM_000038.6(APC):c.8436C>T (p.Asn2812=)
|
rs750971628
|
0.00001
|
|
NM_000038.6(APC):c.8499C>G (p.Arg2833=)
|
rs757921527
|
0.00001
|
|
NM_000038.6(APC):c.8508G>A (p.Gly2836=)
|
rs878853479
|
0.00001
|
|
NM_000038.6(APC):c.8511T>C (p.Ser2837=)
|
rs1010623341
|
0.00001
|
|
NM_000038.6(APC):c.8531A>G (p.Ter2844=)
|
rs1021733635
|
0.00001
|
|
NM_000038.6(APC):c.924G>T (p.Leu308=)
|
rs1060504873
|
0.00001
|
|
NM_000038.6(APC):c.993G>A (p.Ser331=)
|
rs148343173
|
0.00001
|
|
NM_000045.4(ARG1):c.57+1G>A
|
rs587776539
|
0.00001
|
|
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)
|
rs374304304
|
0.00001
|
|
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)
|
rs138310841
|
0.00001
|
|
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)
|
rs796051931
|
0.00001
|
|
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)
|
rs764602422
|
0.00001
|
|
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys)
|
rs937670540
|
0.00001
|
|
NM_000049.4(ASPA):c.503G>A (p.Arg168His)
|
rs770706390
|
0.00001
|
|
NM_000049.4(ASPA):c.634+1G>T
|
rs753871454
|
0.00001
|
|
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)
|
rs1555069617
|
0.00001
|
|
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)
|
rs34083085
|
0.00001
|
|
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)
|
rs747563556
|
0.00001
|
|
NM_000051.4(ATM):c.1212G>A (p.Gln404=)
|
rs786201519
|
0.00001
|
|
NM_000051.4(ATM):c.1303T>C (p.Leu435=)
|
rs748469311
|
0.00001
|
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
|
NM_000051.4(ATM):c.1494G>A (p.Glu498=)
|
rs763108858
|
0.00001
|
|
NM_000051.4(ATM):c.1607+1G>T
|
rs772926890
|
0.00001
|
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
|
NM_000051.4(ATM):c.1702A>G (p.Arg568Gly)
|
rs876659425
|
0.00001
|
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
0.00001
|
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
|
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
|
rs765965513
|
0.00001
|
|
NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)
|
rs779004090
|
0.00001
|
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
|
NM_000051.4(ATM):c.2262A>G (p.Gln754=)
|
rs778320952
|
0.00001
|
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
0.00001
|
|
NM_000051.4(ATM):c.3108C>T (p.Phe1036=)
|
rs867514913
|
0.00001
|
|
NM_000051.4(ATM):c.3135C>T (p.Cys1045=)
|
rs773577455
|
0.00001
|
|
NM_000051.4(ATM):c.3154-2A>G
|
rs730881357
|
0.00001
|
|
NM_000051.4(ATM):c.3257G>A (p.Arg1086His)
|
rs769857066
|
0.00001
|
|
NM_000051.4(ATM):c.332-1G>A
|
rs747855862
|
0.00001
|
|
NM_000051.4(ATM):c.3336T>A (p.Pro1112=)
|
rs758784434
|
0.00001
|
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
|
NM_000051.4(ATM):c.3982T>C (p.Leu1328=)
|
rs876658204
|
0.00001
|
|
NM_000051.4(ATM):c.411C>T (p.Tyr137=)
|
rs756160533
|
0.00001
|
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
|
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly)
|
rs876658711
|
0.00001
|
|
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)
|
rs748949478
|
0.00001
|
|
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)
|
rs779718362
|
0.00001
|
|
NM_000051.4(ATM):c.48A>G (p.Glu16=)
|
rs774768437
|
0.00001
|
|
NM_000051.4(ATM):c.4910-5T>C
|
rs1309478967
|
0.00001
|
|
NM_000051.4(ATM):c.5005+1G>T
|
rs1057517427
|
0.00001
|
|
NM_000051.4(ATM):c.5203dup (p.Thr1735fs)
|
rs878853518
|
0.00001
|
|
NM_000051.4(ATM):c.5217C>T (p.Asn1739=)
|
rs876658271
|
0.00001
|
|
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)
|
rs587779844
|
0.00001
|
|
NM_000051.4(ATM):c.5301T>C (p.Phe1767=)
|
rs1468101040
|
0.00001
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
0.00001
|
|
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)
|
rs1214541502
|
0.00001
|
|
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe)
|
rs764784077
|
0.00001
|
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
|
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)
|
rs876658740
|
0.00001
|
|
NM_000051.4(ATM):c.590G>A (p.Gly197Glu)
|
rs753806542
|
0.00001
|
|
NM_000051.4(ATM):c.591A>T (p.Gly197=)
|
rs587780630
|
0.00001
|
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
0.00001
|
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
|
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)
|
rs1348587218
|
0.00001
|
|
NM_000051.4(ATM):c.6572+4T>C
|
rs587780636
|
0.00001
|
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
|
NM_000051.4(ATM):c.680C>T (p.Ser227Leu)
|
rs762998620
|
0.00001
|
|
NM_000051.4(ATM):c.6975+7T>A
|
rs754834282
|
0.00001
|
|
NM_000051.4(ATM):c.7116T>C (p.Asp2372=)
|
rs3218675
|
0.00001
|
|
NM_000051.4(ATM):c.712A>G (p.Ile238Val)
|
rs754275014
|
0.00001
|
|
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val)
|
rs778888033
|
0.00001
|
|
NM_000051.4(ATM):c.7302A>T (p.Thr2434=)
|
rs752125292
|
0.00001
|
|
NM_000051.4(ATM):c.7317A>G (p.Val2439=)
|
rs878853542
|
0.00001
|
|
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)
|
rs587782310
|
0.00001
|
|
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)
|
rs775621333
|
0.00001
|
|
NM_000051.4(ATM):c.7602C>T (p.Gly2534=)
|
rs562264493
|
0.00001
|
|
NM_000051.4(ATM):c.8187A>G (p.Gln2729=)
|
rs587781946
|
0.00001
|
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
|
NM_000051.4(ATM):c.834C>T (p.Val278=)
|
rs2079769316
|
0.00001
|
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
|
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)
|
rs587781597
|
0.00001
|
|
NM_000051.4(ATM):c.8532T>C (p.Ile2844=)
|
rs730881278
|
0.00001
|
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
|
NM_000051.4(ATM):c.8786+1G>T
|
rs17174393
|
0.00001
|
|
NM_000051.4(ATM):c.8850+10T>C
|
rs762487236
|
0.00001
|
|
NM_000051.4(ATM):c.8988-1G>C
|
rs730881386
|
0.00001
|
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
|
NM_000053.4(ATP7B):c.3556+1G>A
|
rs184388696
|
0.00001
|
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
|
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)
|
rs1555423753
|
0.00001
|
|
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)
|
rs367543033
|
0.00001
|
|
NM_000059.4(BRCA2):c.1002T>G (p.His334Gln)
|
rs544942885
|
0.00001
|
|
NM_000059.4(BRCA2):c.122C>T (p.Pro41Leu)
|
rs786201716
|
0.00001
|
|
NM_000059.4(BRCA2):c.1949A>G (p.Asn650Ser)
|
rs773619645
|
0.00001
|
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
|
NM_000059.4(BRCA2):c.2252C>T (p.Thr751Ile)
|
rs398122743
|
0.00001
|
|
NM_000059.4(BRCA2):c.2443A>G (p.Met815Val)
|
rs786203814
|
0.00001
|
|
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys)
|
rs431825298
|
0.00001
|
|
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val)
|
rs786201837
|
0.00001
|
|
NM_000059.4(BRCA2):c.2878A>G (p.Lys960Glu)
|
rs876659267
|
0.00001
|
|
NM_000059.4(BRCA2):c.3772A>G (p.Ile1258Val)
|
rs587782720
|
0.00001
|
|
NM_000059.4(BRCA2):c.3893T>C (p.Ile1298Thr)
|
rs80358633
|
0.00001
|
|
NM_000059.4(BRCA2):c.3966C>G (p.Asn1322Lys)
|
rs80358647
|
0.00001
|
|
NM_000059.4(BRCA2):c.4105T>C (p.Ser1369Pro)
|
rs138567364
|
0.00001
|
|
NM_000059.4(BRCA2):c.4319A>G (p.Lys1440Arg)
|
rs80358669
|
0.00001
|
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
|
NM_000059.4(BRCA2):c.4652A>G (p.Gln1551Arg)
|
rs1391223943
|
0.00001
|
|
NM_000059.4(BRCA2):c.4695G>T (p.Lys1565Asn)
|
rs587782522
|
0.00001
|
|
NM_000059.4(BRCA2):c.489T>G (p.Ser163Arg)
|
rs398122787
|
0.00001
|
|
NM_000059.4(BRCA2):c.4901T>C (p.Phe1634Ser)
|
rs80358715
|
0.00001
|
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
|
NM_000059.4(BRCA2):c.5341G>A (p.Asp1781Asn)
|
rs183478654
|
0.00001
|
|
NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile)
|
rs759138390
|
0.00001
|
|
NM_000059.4(BRCA2):c.619A>G (p.Thr207Ala)
|
rs80358858
|
0.00001
|
|
NM_000059.4(BRCA2):c.6434A>G (p.Asn2145Ser)
|
rs80358878
|
0.00001
|
|
NM_000059.4(BRCA2):c.6514T>G (p.Ser2172Ala)
|
rs1222261194
|
0.00001
|
|
NM_000059.4(BRCA2):c.673A>G (p.Thr225Ala)
|
rs80358897
|
0.00001
|
|
NM_000059.4(BRCA2):c.707A>G (p.His236Arg)
|
rs80358938
|
0.00001
|
|
NM_000059.4(BRCA2):c.7930A>G (p.Asn2644Asp)
|
rs431825360
|
0.00001
|
|
NM_000059.4(BRCA2):c.8051A>G (p.Lys2684Arg)
|
rs80359043
|
0.00001
|
|
NM_000059.4(BRCA2):c.8098A>C (p.Ile2700Leu)
|
rs80359053
|
0.00001
|
|
NM_000059.4(BRCA2):c.8366A>G (p.Tyr2789Cys)
|
rs398122603
|
0.00001
|
|
NM_000059.4(BRCA2):c.8450G>T (p.Cys2817Phe)
|
rs786201992
|
0.00001
|
|
NM_000059.4(BRCA2):c.8599A>C (p.Thr2867Pro)
|
rs80359119
|
0.00001
|
|
NM_000059.4(BRCA2):c.9187C>T (p.Pro3063Ser)
|
rs80359176
|
0.00001
|
|
NM_000059.4(BRCA2):c.9611C>G (p.Thr3204Ser)
|
rs80359232
|
0.00001
|
|
NM_000059.4(BRCA2):c.9616C>G (p.Gln3206Glu)
|
rs80359233
|
0.00001
|
|
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)
|
rs139836397
|
0.00001
|
|
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys)
|
rs747819910
|
0.00001
|
|
NM_000070.3(CAPN3):c.2440-1G>A
|
rs886044052
|
0.00001
|
|
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)
|
rs1347662650
|
0.00001
|
|
NM_000075.4(CDK4):c.504G>A (p.Gln168=)
|
rs770086242
|
0.00001
|
|
NM_000075.4(CDK4):c.632+9C>T
|
rs1192976748
|
0.00001
|
|
NM_000075.4(CDK4):c.633-8C>T
|
rs536249985
|
0.00001
|
|
NM_000075.4(CDK4):c.660C>T (p.Ala220=)
|
rs773490152
|
0.00001
|
|
NM_000075.4(CDK4):c.690T>C (p.Ile230=)
|
rs886049714
|
0.00001
|
|
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)
|
rs104894097
|
0.00001
|
|
NM_000080.4(CHRNE):c.1033-1G>C
|
rs755303686
|
0.00001
|
|
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)
|
rs776927709
|
0.00001
|
|
NM_000082.4(ERCC8):c.618-1G>A
|
rs201464610
|
0.00001
|
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00001
|
|
NM_000091.5(COL4A3):c.4755+1G>A
|
rs1346132592
|
0.00001
|
|
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)
|
rs869025328
|
0.00001
|
|
NM_000092.5(COL4A4):c.1579G>T (p.Gly527Cys)
|
rs779930511
|
0.00001
|
|
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
|
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)
|
rs201065226
|
0.00001
|
|
NM_000128.4(F11):c.365G>A (p.Gly122Asp)
|
rs369650561
|
0.00001
|
|
NM_000132.4(F8):c.1648C>T (p.Arg550Cys)
|
rs137852417
|
0.00001
|
|
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)
|
rs1266348463
|
0.00001
|
|
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)
|
rs780825099
|
0.00001
|
|
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu)
|
rs1439817346
|
0.00001
|
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
|
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)
|
rs863223966
|
0.00001
|
|
NM_000143.4(FH):c.1109-7C>T
|
rs1060504079
|
0.00001
|
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
|
NM_000143.4(FH):c.1443C>G (p.Thr481=)
|
rs780200136
|
0.00001
|
|
NM_000143.4(FH):c.208G>A (p.Ala70Thr)
|
rs587782207
|
0.00001
|
|
NM_000143.4(FH):c.320A>C (p.Asn107Thr)
|
rs121913121
|
0.00001
|
|
NM_000143.4(FH):c.415G>A (p.Val139Met)
|
rs200343823
|
0.00001
|
|
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)
|
rs80356485
|
0.00001
|
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
|
NM_000152.5(GAA):c.1A>G (p.Met1Val)
|
rs786204467
|
0.00001
|
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
|
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)
|
rs887930208
|
0.00001
|
|
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu)
|
rs1365128831
|
0.00001
|
|
NM_000153.4(GALC):c.592G>A (p.Glu198Lys)
|
rs909979938
|
0.00001
|
|
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
|
rs2061599170
|
0.00001
|
|
NM_000155.4(GALT):c.692G>A (p.Arg231His)
|
rs111033754
|
0.00001
|
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
|
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)
|
rs786204763
|
0.00001
|
|
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
|
rs80356769
|
0.00001
|
|
NM_000157.4(GBA1):c.1505G>A (p.Arg502His)
|
rs80356772
|
0.00001
|
|
NM_000158.4(GBE1):c.1803+2T>C
|
rs539203557
|
0.00001
|
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
|
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)
|
rs751742575
|
0.00001
|
|
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)
|
rs1251538998
|
0.00001
|
|
NM_000179.3(MSH6):c.*1A>G
|
rs587781604
|
0.00001
|
|
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)
|
rs730881788
|
0.00001
|
|
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)
|
rs375974046
|
0.00001
|
|
NM_000179.3(MSH6):c.1170T>C (p.Asp390=)
|
rs55882234
|
0.00001
|
|
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)
|
rs63750065
|
0.00001
|
|
NM_000179.3(MSH6):c.1209C>G (p.Leu403=)
|
rs748603803
|
0.00001
|
|
NM_000179.3(MSH6):c.1339C>T (p.Leu447=)
|
rs369709529
|
0.00001
|
|
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)
|
rs63750741
|
0.00001
|
|
NM_000179.3(MSH6):c.1347G>A (p.Leu449=)
|
rs786201760
|
0.00001
|
|
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)
|
rs373726731
|
0.00001
|
|
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)
|
rs63751098
|
0.00001
|
|
NM_000179.3(MSH6):c.1623C>T (p.Ser541=)
|
rs777678406
|
0.00001
|
|
NM_000179.3(MSH6):c.1646C>G (p.Ser549Cys)
|
rs200447622
|
0.00001
|
|
NM_000179.3(MSH6):c.1668T>C (p.Tyr556=)
|
rs730882130
|
0.00001
|
|
NM_000179.3(MSH6):c.1677C>T (p.Cys559=)
|
rs63749893
|
0.00001
|
|
NM_000179.3(MSH6):c.1740G>A (p.Ser580=)
|
rs762089407
|
0.00001
|
|
NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser)
|
rs876661043
|
0.00001
|
|
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu)
|
rs755847154
|
0.00001
|
|
NM_000179.3(MSH6):c.1999G>C (p.Asp667His)
|
rs151086192
|
0.00001
|
|
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)
|
rs143643688
|
0.00001
|
|
NM_000179.3(MSH6):c.2035T>C (p.Leu679=)
|
rs757741943
|
0.00001
|
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
|
NM_000179.3(MSH6):c.2103A>G (p.Leu701=)
|
rs764244124
|
0.00001
|
|
NM_000179.3(MSH6):c.2154C>T (p.Ser718=)
|
rs771662801
|
0.00001
|
|
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser)
|
rs587781462
|
0.00001
|
|
NM_000179.3(MSH6):c.2400T>C (p.Val800=)
|
rs267608071
|
0.00001
|
|
NM_000179.3(MSH6):c.249T>G (p.Ala83=)
|
rs876658308
|
0.00001
|
|
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)
|
rs143520357
|
0.00001
|
|
NM_000179.3(MSH6):c.2940A>G (p.Glu980=)
|
rs730881818
|
0.00001
|
|
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=)
|
rs367758473
|
0.00001
|
|
NM_000179.3(MSH6):c.3084A>T (p.Ser1028=)
|
rs786201843
|
0.00001
|
|
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=)
|
rs199643502
|
0.00001
|
|
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)
|
rs376452612
|
0.00001
|
|
NM_000179.3(MSH6):c.3255C>G (p.Thr1085=)
|
rs371568610
|
0.00001
|
|
NM_000179.3(MSH6):c.3261C>T (p.Pro1087=)
|
rs370226185
|
0.00001
|
|
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)
|
rs773955368
|
0.00001
|
|
NM_000179.3(MSH6):c.333C>T (p.Tyr111=)
|
rs786202772
|
0.00001
|
|
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs)
|
rs63751327
|
0.00001
|
|
NM_000179.3(MSH6):c.3560A>G (p.Glu1187Gly)
|
rs150632241
|
0.00001
|
|
NM_000179.3(MSH6):c.363C>T (p.Arg121=)
|
rs587779276
|
0.00001
|
|
NM_000179.3(MSH6):c.3936T>C (p.Val1312=)
|
rs61753796
|
0.00001
|
|
NM_000179.3(MSH6):c.3949C>G (p.His1317Asp)
|
rs759092293
|
0.00001
|
|
NM_000179.3(MSH6):c.4002-4T>C
|
rs370428032
|
0.00001
|
|
NM_000179.3(MSH6):c.458-17A>G
|
rs554847828
|
0.00001
|
|
NM_000179.3(MSH6):c.533G>A (p.Arg178His)
|
rs786204186
|
0.00001
|
|
NM_000179.3(MSH6):c.87C>G (p.Arg29=)
|
rs778354962
|
0.00001
|
|
NM_000179.3(MSH6):c.956C>T (p.Thr319Met)
|
rs188252826
|
0.00001
|
|
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser)
|
rs369568820
|
0.00001
|
|
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)
|
rs587781983
|
0.00001
|
|
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
|
rs1303177735
|
0.00001
|
|
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)
|
rs1425615804
|
0.00001
|
|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
0.00001
|
|
NM_000199.5(SGSH):c.2T>C (p.Met1Thr)
|
rs1488660868
|
0.00001
|
|
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
|
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)
|
rs121912482
|
0.00001
|
|
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)
|
rs762412447
|
0.00001
|
|
NM_000235.4(LIPA):c.111+1G>A
|
rs762960877
|
0.00001
|
|
NM_000245.4(MET):c.600C>G (p.Thr200=)
|
rs1225303075
|
0.00001
|
|
NM_000249.4(MLH1):c.*3A>G
|
rs587778880
|
0.00001
|
|
NM_000249.4(MLH1):c.-11C>T
|
rs776898290
|
0.00001
|
|
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)
|
rs587781750
|
0.00001
|
|
NM_000249.4(MLH1):c.1039-5T>C
|
rs587782626
|
0.00001
|
|
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)
|
rs201673334
|
0.00001
|
|
NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg)
|
rs759868546
|
0.00001
|
|
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)
|
rs587779951
|
0.00001
|
|
NM_000249.4(MLH1):c.1236C>T (p.Val412=)
|
rs369576099
|
0.00001
|
|
NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn)
|
rs756099600
|
0.00001
|
|
NM_000249.4(MLH1):c.1410-8C>T
|
rs1057521668
|
0.00001
|
|
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)
|
rs587778917
|
0.00001
|
|
NM_000249.4(MLH1):c.1490G>A (p.Arg497Gln)
|
rs754554026
|
0.00001
|
|
NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser)
|
rs772245091
|
0.00001
|
|
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)
|
rs587779954
|
0.00001
|
|
NM_000249.4(MLH1):c.1698T>C (p.Tyr566=)
|
rs876658915
|
0.00001
|
|
NM_000249.4(MLH1):c.1731+8T>C
|
rs370108219
|
0.00001
|
|
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)
|
rs587782621
|
0.00001
|
|
NM_000249.4(MLH1):c.1834G>A (p.Val612Ile)
|
rs587779956
|
0.00001
|
|
NM_000249.4(MLH1):c.1850A>C (p.Lys617Thr)
|
rs780199021
|
0.00001
|
|
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu)
|
rs377241633
|
0.00001
|
|
NM_000249.4(MLH1):c.1896+7C>T
|
rs863224339
|
0.00001
|
|
NM_000249.4(MLH1):c.2060G>A (p.Arg687Gln)
|
rs587781310
|
0.00001
|
|
NM_000249.4(MLH1):c.2103+6G>T
|
rs1057521607
|
0.00001
|
|
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)
|
rs587778986
|
0.00001
|
|
NM_000249.4(MLH1):c.2172G>A (p.Leu724=)
|
rs780045031
|
0.00001
|
|
NM_000249.4(MLH1):c.221A>T (p.Asp74Val)
|
rs751894165
|
0.00001
|
|
NM_000249.4(MLH1):c.2242G>C (p.Asp748His)
|
rs374380262
|
0.00001
|
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
|
NM_000249.4(MLH1):c.306+4A>G
|
rs267607733
|
0.00001
|
|
NM_000249.4(MLH1):c.346A>G (p.Thr116Ala)
|
rs750353040
|
0.00001
|
|
NM_000249.4(MLH1):c.351G>A (p.Thr117=)
|
rs61751643
|
0.00001
|
|
NM_000249.4(MLH1):c.44T>C (p.Val15Ala)
|
rs864622396
|
0.00001
|
|
NM_000249.4(MLH1):c.452C>T (p.Thr151Met)
|
rs776969475
|
0.00001
|
|
NM_000249.4(MLH1):c.563C>T (p.Ala188Val)
|
rs777971431
|
0.00001
|
|
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln)
|
rs63749887
|
0.00001
|
|
NM_000249.4(MLH1):c.636C>T (p.Thr212=)
|
rs138735345
|
0.00001
|
|
NM_000249.4(MLH1):c.682C>A (p.Leu228Met)
|
rs751628735
|
0.00001
|
|
NM_000249.4(MLH1):c.885-5G>T
|
rs267607802
|
0.00001
|
|
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)
|
rs63750547
|
0.00001
|
|
NM_000249.4(MLH1):c.925C>T (p.Pro309Ser)
|
rs267607808
|
0.00001
|
|
NM_000251.3(MSH2):c.-9G>C
|
rs547444746
|
0.00001
|
|
NM_000251.3(MSH2):c.1077-15G>T
|
rs753277524
|
0.00001
|
|
NM_000251.3(MSH2):c.1157A>G (p.Asp386Gly)
|
rs1203515094
|
0.00001
|
|
NM_000251.3(MSH2):c.115C>A (p.Arg39=)
|
rs786202334
|
0.00001
|
|
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)
|
rs878853798
|
0.00001
|
|
NM_000251.3(MSH2):c.1221C>G (p.Leu407=)
|
rs63750813
|
0.00001
|
|
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)
|
rs761960690
|
0.00001
|
|
NM_000251.3(MSH2):c.1270C>T (p.His424Tyr)
|
rs587782278
|
0.00001
|
|
NM_000251.3(MSH2):c.1311G>T (p.Val437=)
|
rs730881781
|
0.00001
|
|
NM_000251.3(MSH2):c.1344C>T (p.Ser448=)
|
rs1010360604
|
0.00001
|
|
NM_000251.3(MSH2):c.1361T>C (p.Ile454Thr)
|
rs1060502025
|
0.00001
|
|
NM_000251.3(MSH2):c.1378A>G (p.Met460Val)
|
rs575905950
|
0.00001
|
|
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu)
|
rs63751403
|
0.00001
|
|
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)
|
rs587781314
|
0.00001
|
|
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)
|
rs755501968
|
0.00001
|
|
NM_000251.3(MSH2):c.1571G>A (p.Arg524His)
|
rs63751207
|
0.00001
|
|
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser)
|
rs267607967
|
0.00001
|
|
NM_000251.3(MSH2):c.1760-10T>A
|
rs767536391
|
0.00001
|
|
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)
|
rs747504492
|
0.00001
|
|
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)
|
rs748797209
|
0.00001
|
|
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln)
|
rs759263820
|
0.00001
|
|
NM_000251.3(MSH2):c.186G>A (p.Gly62=)
|
rs750058876
|
0.00001
|
|
NM_000251.3(MSH2):c.1907C>T (p.Ala636Val)
|
rs63750279
|
0.00001
|
|
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)
|
rs374840361
|
0.00001
|
|
NM_000251.3(MSH2):c.1943T>A (p.Ile648Asn)
|
rs763100088
|
0.00001
|
|
NM_000251.3(MSH2):c.2006-26dup
|
rs781614743
|
0.00001
|
|
NM_000251.3(MSH2):c.2006-4G>A
|
rs369853630
|
0.00001
|
|
NM_000251.3(MSH2):c.2038C>G (p.Arg680Gly)
|
rs63749932
|
0.00001
|
|
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)
|
rs755920849
|
0.00001
|
|
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)
|
rs63750790
|
0.00001
|
|
NM_000251.3(MSH2):c.2106G>A (p.Val702=)
|
rs786201108
|
0.00001
|
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
|
NM_000251.3(MSH2):c.213A>G (p.Gly71=)
|
rs878853808
|
0.00001
|
|
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)
|
rs63749841
|
0.00001
|
|
NM_000251.3(MSH2):c.2553T>G (p.Leu851=)
|
rs1553370386
|
0.00001
|
|
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)
|
rs587779154
|
0.00001
|
|
NM_000251.3(MSH2):c.2789dup (p.Val932fs)
|
rs786202481
|
0.00001
|
|
NM_000251.3(MSH2):c.2804G>A (p.Ter935=)
|
rs876658335
|
0.00001
|
|
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)
|
rs587779971
|
0.00001
|
|
NM_000251.3(MSH2):c.376G>A (p.Gly126Ser)
|
rs767371843
|
0.00001
|
|
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)
|
rs730881768
|
0.00001
|
|
NM_000251.3(MSH2):c.38G>A (p.Ser13Asn)
|
rs63749907
|
0.00001
|
|
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)
|
rs587779162
|
0.00001
|
|
NM_000251.3(MSH2):c.459C>T (p.Ser153=)
|
rs63751065
|
0.00001
|
|
NM_000251.3(MSH2):c.507A>G (p.Ile169Met)
|
rs748762580
|
0.00001
|
|
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)
|
rs141021599
|
0.00001
|
|
NM_000251.3(MSH2):c.5C>T (p.Ala2Val)
|
rs587778521
|
0.00001
|
|
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)
|
rs63750574
|
0.00001
|
|
NM_000251.3(MSH2):c.646-3T>C
|
rs267607930
|
0.00001
|
|
NM_000251.3(MSH2):c.669G>A (p.Leu223=)
|
rs751195930
|
0.00001
|
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
|
NM_000251.3(MSH2):c.755A>G (p.Gln252Arg)
|
rs370906735
|
0.00001
|
|
NM_000251.3(MSH2):c.759G>A (p.Met253Ile)
|
rs1060502021
|
0.00001
|
|
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)
|
rs587781294
|
0.00001
|
|
NM_000251.3(MSH2):c.816G>A (p.Ala272=)
|
rs368912987
|
0.00001
|
|
NM_000251.3(MSH2):c.855C>G (p.Asn285Lys)
|
rs759242666
|
0.00001
|
|
NM_000251.3(MSH2):c.877A>G (p.Thr293Ala)
|
rs1296650088
|
0.00001
|
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
|
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln)
|
rs774457503
|
0.00001
|
|
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)
|
rs1555067667
|
0.00001
|
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
|
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln)
|
rs120074132
|
0.00001
|
|
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln)
|
rs534280005
|
0.00001
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
0.00001
|
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
|
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp)
|
rs121965053
|
0.00001
|
|
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)
|
rs184148104
|
0.00001
|
|
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)
|
rs281865440
|
0.00001
|
|
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val)
|
rs776355907
|
0.00001
|
|
NM_000282.4(PCCA):c.2119-9A>G
|
rs1389933015
|
0.00001
|
|
NM_000282.4(PCCA):c.231+1G>C
|
rs972937270
|
0.00001
|
|
NM_000288.4(PEX7):c.188+1G>C
|
rs267608254
|
0.00001
|
|
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)
|
rs150577656
|
0.00001
|
|
NM_000314.8(PTEN):c.1005A>G (p.Arg335=)
|
rs1303065649
|
0.00001
|
|
NM_000314.8(PTEN):c.210-9T>C
|
rs751744545
|
0.00001
|
|
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)
|
rs121913293
|
0.00001
|
|
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr)
|
rs587781998
|
0.00001
|
|
NM_000314.8(PTEN):c.738G>A (p.Pro246=)
|
rs774364894
|
0.00001
|
|
NM_000314.8(PTEN):c.79+7A>G
|
rs374331677
|
0.00001
|
|
NM_000314.8(PTEN):c.900C>T (p.Ile300=)
|
rs550122918
|
0.00001
|
|
NM_000330.4(RS1):c.590G>A (p.Arg197His)
|
rs281865355
|
0.00001
|
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
0.00001
|
|
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg)
|
rs971604271
|
0.00001
|
|
NM_000368.5(TSC1):c.1002G>A (p.Ser334=)
|
rs200820603
|
0.00001
|
|
NM_000368.5(TSC1):c.1017T>C (p.Thr339=)
|
rs1845953694
|
0.00001
|
|
NM_000368.5(TSC1):c.1038T>C (p.Leu346=)
|
rs753360364
|
0.00001
|
|
NM_000368.5(TSC1):c.1050T>C (p.Ser350=)
|
rs150777389
|
0.00001
|
|
NM_000368.5(TSC1):c.1116T>C (p.Pro372=)
|
rs1311647964
|
0.00001
|
|
NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu)
|
rs752575728
|
0.00001
|
|
NM_000368.5(TSC1):c.1191A>G (p.Pro397=)
|
rs370281825
|
0.00001
|
|
NM_000368.5(TSC1):c.1200C>G (p.Leu400=)
|
rs767514820
|
0.00001
|
|
NM_000368.5(TSC1):c.1206T>C (p.His402=)
|
rs1845902050
|
0.00001
|
|
NM_000368.5(TSC1):c.1224C>T (p.His408=)
|
rs781006583
|
0.00001
|
|
NM_000368.5(TSC1):c.1233C>T (p.Leu411=)
|
rs1588321365
|
0.00001
|
|
NM_000368.5(TSC1):c.1248C>T (p.Val416=)
|
rs777823426
|
0.00001
|
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
|
NM_000368.5(TSC1):c.1257C>G (p.Pro419=)
|
rs369642207
|
0.00001
|
|
NM_000368.5(TSC1):c.1263+6_1263+8dup
|
rs751182565
|
0.00001
|
|
NM_000368.5(TSC1):c.1290A>G (p.Pro430=)
|
rs759914505
|
0.00001
|
|
NM_000368.5(TSC1):c.1305A>G (p.Gln435=)
|
rs1334781311
|
0.00001
|
|
NM_000368.5(TSC1):c.133T>C (p.Leu45=)
|
rs755226092
|
0.00001
|
|
NM_000368.5(TSC1):c.135G>A (p.Leu45=)
|
rs149278759
|
0.00001
|
|
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg)
|
rs587778722
|
0.00001
|
|
NM_000368.5(TSC1):c.1473A>C (p.Thr491=)
|
rs1588311152
|
0.00001
|
|
NM_000368.5(TSC1):c.1539A>G (p.Pro513=)
|
rs755055358
|
0.00001
|
|
NM_000368.5(TSC1):c.1590C>T (p.Ser530=)
|
rs762424091
|
0.00001
|
|
NM_000368.5(TSC1):c.1596C>T (p.Asn532=)
|
rs759461471
|
0.00001
|
|
NM_000368.5(TSC1):c.1626G>A (p.Lys542=)
|
rs756935981
|
0.00001
|
|
NM_000368.5(TSC1):c.1674C>T (p.Pro558=)
|
rs878853962
|
0.00001
|
|
NM_000368.5(TSC1):c.168G>A (p.Pro56=)
|
rs781483110
|
0.00001
|
|
NM_000368.5(TSC1):c.1716C>T (p.Cys572=)
|
rs752202276
|
0.00001
|
|
NM_000368.5(TSC1):c.1776G>A (p.Thr592=)
|
rs118203580
|
0.00001
|
|
NM_000368.5(TSC1):c.1779A>G (p.Arg593=)
|
rs964191879
|
0.00001
|
|
NM_000368.5(TSC1):c.177C>T (p.His59=)
|
rs767647768
|
0.00001
|
|
NM_000368.5(TSC1):c.1794C>T (p.Ser598=)
|
rs766438395
|
0.00001
|
|
NM_000368.5(TSC1):c.1809G>A (p.Pro603=)
|
rs112434645
|
0.00001
|
|
NM_000368.5(TSC1):c.181C>T (p.Leu61=)
|
rs752047592
|
0.00001
|
|
NM_000368.5(TSC1):c.1869G>A (p.Lys623=)
|
rs778556382
|
0.00001
|
|
NM_000368.5(TSC1):c.186C>T (p.Thr62=)
|
rs1554820640
|
0.00001
|
|
NM_000368.5(TSC1):c.1882T>C (p.Leu628=)
|
rs375534013
|
0.00001
|
|
NM_000368.5(TSC1):c.1890A>G (p.Lys630=)
|
rs1370477883
|
0.00001
|
|
NM_000368.5(TSC1):c.1954C>T (p.Leu652=)
|
rs747452647
|
0.00001
|
|
NM_000368.5(TSC1):c.2023G>C (p.Asp675His)
|
rs768189353
|
0.00001
|
|
NM_000368.5(TSC1):c.2064C>T (p.Ile688=)
|
rs878853963
|
0.00001
|
|
NM_000368.5(TSC1):c.2085G>A (p.Leu695=)
|
rs767518902
|
0.00001
|
|
NM_000368.5(TSC1):c.2092C>T (p.Leu698=)
|
rs551954460
|
0.00001
|
|
NM_000368.5(TSC1):c.210+5T>C
|
rs753035149
|
0.00001
|
|
NM_000368.5(TSC1):c.2145G>C (p.Arg715=)
|
rs1379334013
|
0.00001
|
|
NM_000368.5(TSC1):c.2148C>T (p.Asn716=)
|
rs1554815274
|
0.00001
|
|
NM_000368.5(TSC1):c.2172C>A (p.Ile724=)
|
rs1845495899
|
0.00001
|
|
NM_000368.5(TSC1):c.2196T>C (p.His732=)
|
rs776441369
|
0.00001
|
|
NM_000368.5(TSC1):c.2226A>G (p.Leu742=)
|
rs397514878
|
0.00001
|
|
NM_000368.5(TSC1):c.2268A>G (p.Lys756=)
|
rs760004541
|
0.00001
|
|
NM_000368.5(TSC1):c.2392-16A>G
|
rs758374143
|
0.00001
|
|
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg)
|
rs118203699
|
0.00001
|
|
NM_000368.5(TSC1):c.2520G>A (p.Ser840=)
|
rs547498792
|
0.00001
|
|
NM_000368.5(TSC1):c.2542T>C (p.Leu848=)
|
rs780394011
|
0.00001
|
|
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)
|
rs770381040
|
0.00001
|
|
NM_000368.5(TSC1):c.2577C>T (p.Asn859=)
|
rs781553258
|
0.00001
|
|
NM_000368.5(TSC1):c.2604C>T (p.Asn868=)
|
rs147163264
|
0.00001
|
|
NM_000368.5(TSC1):c.2649C>G (p.Ala883=)
|
rs1279318276
|
0.00001
|
|
NM_000368.5(TSC1):c.2658A>G (p.Lys886=)
|
rs368212910
|
0.00001
|
|
NM_000368.5(TSC1):c.2679C>T (p.Ser893=)
|
rs374311456
|
0.00001
|
|
NM_000368.5(TSC1):c.270C>T (p.Leu90=)
|
rs142325036
|
0.00001
|
|
NM_000368.5(TSC1):c.2745C>T (p.His915=)
|
rs1392904165
|
0.00001
|
|
NM_000368.5(TSC1):c.2766T>G (p.Leu922=)
|
rs546119844
|
0.00001
|
|
NM_000368.5(TSC1):c.2781G>A (p.Lys927=)
|
rs118203733
|
0.00001
|
|
NM_000368.5(TSC1):c.2796T>C (p.Asp932=)
|
rs766871150
|
0.00001
|
|
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr)
|
rs751362258
|
0.00001
|
|
NM_000368.5(TSC1):c.2880G>A (p.Leu960=)
|
rs1845126730
|
0.00001
|
|
NM_000368.5(TSC1):c.2910G>A (p.Glu970=)
|
rs762627301
|
0.00001
|
|
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)
|
rs397514859
|
0.00001
|
|
NM_000368.5(TSC1):c.2940A>G (p.Glu980=)
|
rs557674294
|
0.00001
|
|
NM_000368.5(TSC1):c.2964A>G (p.Ala988=)
|
rs1057520482
|
0.00001
|
|
NM_000368.5(TSC1):c.2975+6A>T
|
rs1060503220
|
0.00001
|
|
NM_000368.5(TSC1):c.2982C>T (p.Asp994=)
|
rs199919348
|
0.00001
|
|
NM_000368.5(TSC1):c.2994C>T (p.Asp998=)
|
rs923543734
|
0.00001
|
|
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg)
|
rs780224196
|
0.00001
|
|
NM_000368.5(TSC1):c.3009C>T (p.Ser1003=)
|
rs2131615637
|
0.00001
|
|
NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg)
|
rs1242948205
|
0.00001
|
|
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp)
|
rs375394001
|
0.00001
|
|
NM_000368.5(TSC1):c.3120C>T (p.Ser1040=)
|
rs1289954163
|
0.00001
|
|
NM_000368.5(TSC1):c.3135T>C (p.Leu1045=)
|
rs1332702219
|
0.00001
|
|
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln)
|
rs755396992
|
0.00001
|
|
NM_000368.5(TSC1):c.3194C>T (p.Thr1065Met)
|
rs753388676
|
0.00001
|
|
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=)
|
rs878853966
|
0.00001
|
|
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=)
|
rs140622357
|
0.00001
|
|
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=)
|
rs754282309
|
0.00001
|
|
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=)
|
rs118203752
|
0.00001
|
|
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=)
|
rs1157060310
|
0.00001
|
|
NM_000368.5(TSC1):c.3381G>A (p.Val1127=)
|
rs773586317
|
0.00001
|
|
NM_000368.5(TSC1):c.3402C>T (p.Asn1134=)
|
rs769266225
|
0.00001
|
|
NM_000368.5(TSC1):c.3405A>G (p.Leu1135=)
|
rs568004490
|
0.00001
|
|
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=)
|
rs763931959
|
0.00001
|
|
NM_000368.5(TSC1):c.3426C>A (p.Pro1142=)
|
rs758286878
|
0.00001
|
|
NM_000368.5(TSC1):c.3433C>G (p.Pro1145Ala)
|
rs773541137
|
0.00001
|
|
NM_000368.5(TSC1):c.375C>T (p.Asp125=)
|
rs560863078
|
0.00001
|
|
NM_000368.5(TSC1):c.381T>C (p.Val127=)
|
rs1846682219
|
0.00001
|
|
NM_000368.5(TSC1):c.45C>T (p.Asp15=)
|
rs1457262106
|
0.00001
|
|
NM_000368.5(TSC1):c.518C>T (p.Ala173Val)
|
rs777484049
|
0.00001
|
|
NM_000368.5(TSC1):c.519G>A (p.Ala173=)
|
rs768999400
|
0.00001
|
|
NM_000368.5(TSC1):c.51C>G (p.Pro17=)
|
rs768175095
|
0.00001
|
|
NM_000368.5(TSC1):c.524T>C (p.Val175Ala)
|
rs1415895533
|
0.00001
|
|
NM_000368.5(TSC1):c.540C>T (p.Leu180=)
|
rs201562103
|
0.00001
|
|
NM_000368.5(TSC1):c.546C>T (p.Ala182=)
|
rs1245007527
|
0.00001
|
|
NM_000368.5(TSC1):c.555C>T (p.Tyr185=)
|
rs118203398
|
0.00001
|
|
NM_000368.5(TSC1):c.60T>G (p.Gly20=)
|
rs1293816362
|
0.00001
|
|
NM_000368.5(TSC1):c.651A>G (p.Glu217=)
|
rs766250769
|
0.00001
|
|
NM_000368.5(TSC1):c.657G>C (p.Val219=)
|
rs755910789
|
0.00001
|
|
NM_000368.5(TSC1):c.702G>A (p.Val234=)
|
rs1216129023
|
0.00001
|
|
NM_000368.5(TSC1):c.72C>T (p.Asp24=)
|
rs376527838
|
0.00001
|
|
NM_000368.5(TSC1):c.771C>T (p.Ile257=)
|
rs1060504854
|
0.00001
|
|
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys)
|
rs118203450
|
0.00001
|
|
NM_000368.5(TSC1):c.774G>A (p.Glu258=)
|
rs1554817678
|
0.00001
|
|
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys)
|
rs770653972
|
0.00001
|
|
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp)
|
rs535868591
|
0.00001
|
|
NM_000368.5(TSC1):c.960A>G (p.Leu320=)
|
rs770183315
|
0.00001
|
|
NM_000372.5(TYR):c.116G>A (p.Trp39Ter)
|
rs775683960
|
0.00001
|
|
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)
|
rs104894316
|
0.00001
|
|
NM_000372.5(TYR):c.616G>A (p.Ala206Thr)
|
rs28940880
|
0.00001
|
|
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)
|
rs587777442
|
0.00001
|
|
NM_000426.4(LAMA2):c.112+1G>A
|
rs398123367
|
0.00001
|
|
NM_000426.4(LAMA2):c.2749+2dup
|
rs759144210
|
0.00001
|
|
NM_000426.4(LAMA2):c.4717+1G>T
|
rs1131691660
|
0.00001
|
|
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter)
|
rs762342110
|
0.00001
|
|
NM_000426.4(LAMA2):c.8703+1G>A
|
rs1446002589
|
0.00001
|
|
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter)
|
rs1034133545
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)
|
rs749013429
|
0.00001
|
|
NM_000441.2(SLC26A4):c.232T>C (p.Tyr78His)
|
rs760794201
|
0.00001
|
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
|
NM_000455.5(STK11):c.*4del
|
rs1235043828
|
0.00001
|
|
NM_000455.5(STK11):c.1011G>A (p.Val337=)
|
rs1555739249
|
0.00001
|
|
NM_000455.5(STK11):c.1012G>A (p.Val338Met)
|
rs587782302
|
0.00001
|
|
NM_000455.5(STK11):c.1017G>A (p.Pro339=)
|
rs773049570
|
0.00001
|
|
NM_000455.5(STK11):c.102C>T (p.Val34=)
|
rs1060503784
|
0.00001
|
|
NM_000455.5(STK11):c.1068C>T (p.Ile356=)
|
rs187744790
|
0.00001
|
|
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)
|
rs556651007
|
0.00001
|
|
NM_000455.5(STK11):c.108C>T (p.Tyr36=)
|
rs137853079
|
0.00001
|
|
NM_000455.5(STK11):c.1101G>A (p.Thr367=)
|
rs750954647
|
0.00001
|
|
NM_000455.5(STK11):c.1128G>A (p.Glu376=)
|
rs747018506
|
0.00001
|
|
NM_000455.5(STK11):c.1131C>T (p.Ala377=)
|
rs1382505031
|
0.00001
|
|
NM_000455.5(STK11):c.1137C>T (p.His379=)
|
rs786201505
|
0.00001
|
|
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp)
|
rs752015385
|
0.00001
|
|
NM_000455.5(STK11):c.1151G>A (p.Arg384Gln)
|
rs371102112
|
0.00001
|
|
NM_000455.5(STK11):c.1164G>A (p.Lys388=)
|
rs786202390
|
0.00001
|
|
NM_000455.5(STK11):c.1167C>G (p.Ala389=)
|
rs547919101
|
0.00001
|
|
NM_000455.5(STK11):c.1173T>C (p.Cys391=)
|
rs1229258407
|
0.00001
|
|
NM_000455.5(STK11):c.1174A>G (p.Met392Val)
|
rs565993396
|
0.00001
|
|
NM_000455.5(STK11):c.1182C>T (p.Gly394=)
|
rs376679847
|
0.00001
|
|
NM_000455.5(STK11):c.1190C>T (p.Ala397Val)
|
rs558040549
|
0.00001
|
|
NM_000455.5(STK11):c.1203C>T (p.Ser401=)
|
rs764876761
|
0.00001
|
|
NM_000455.5(STK11):c.1206C>A (p.Thr402=)
|
rs758129211
|
0.00001
|
|
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg)
|
rs587781633
|
0.00001
|
|
NM_000455.5(STK11):c.1217C>T (p.Ala406Val)
|
rs748202003
|
0.00001
|
|
NM_000455.5(STK11):c.1218G>A (p.Ala406=)
|
rs769772524
|
0.00001
|
|
NM_000455.5(STK11):c.1245C>T (p.Arg415=)
|
rs878853985
|
0.00001
|
|
NM_000455.5(STK11):c.1249G>T (p.Ala417Ser)
|
rs587782876
|
0.00001
|
|
NM_000455.5(STK11):c.1251C>T (p.Ala417=)
|
rs1060503786
|
0.00001
|
|
NM_000455.5(STK11):c.1276C>T (p.Arg426Trp)
|
rs587782687
|
0.00001
|
|
NM_000455.5(STK11):c.135C>T (p.Leu45=)
|
rs1362065365
|
0.00001
|
|
NM_000455.5(STK11):c.147C>T (p.Tyr49=)
|
rs751949296
|
0.00001
|
|
NM_000455.5(STK11):c.15C>T (p.Asp5=)
|
rs786201498
|
0.00001
|
|
NM_000455.5(STK11):c.160C>T (p.Leu54=)
|
rs755390787
|
0.00001
|
|
NM_000455.5(STK11):c.163C>T (p.Leu55=)
|
rs1057520869
|
0.00001
|
|
NM_000455.5(STK11):c.180C>T (p.Tyr60=)
|
rs778376925
|
0.00001
|
|
NM_000455.5(STK11):c.186G>A (p.Lys62=)
|
rs1215771465
|
0.00001
|
|
NM_000455.5(STK11):c.207G>T (p.Ser69=)
|
rs746735912
|
0.00001
|
|
NM_000455.5(STK11):c.214C>T (p.Leu72=)
|
rs776369486
|
0.00001
|
|
NM_000455.5(STK11):c.216G>A (p.Leu72=)
|
rs1057524353
|
0.00001
|
|
NM_000455.5(STK11):c.219C>T (p.Cys73=)
|
rs761825242
|
0.00001
|
|
NM_000455.5(STK11):c.225G>A (p.Arg75=)
|
rs786203886
|
0.00001
|
|
NM_000455.5(STK11):c.231C>G (p.Val77=)
|
rs1438805544
|
0.00001
|
|
NM_000455.5(STK11):c.243G>A (p.Lys81=)
|
rs961970080
|
0.00001
|
|
NM_000455.5(STK11):c.246G>A (p.Lys82=)
|
rs759751510
|
0.00001
|
|
NM_000455.5(STK11):c.249G>A (p.Lys83=)
|
rs1400078073
|
0.00001
|
|
NM_000455.5(STK11):c.252G>A (p.Lys84=)
|
rs1320808027
|
0.00001
|
|
NM_000455.5(STK11):c.267C>T (p.Pro89=)
|
rs778290623
|
0.00001
|
|
NM_000455.5(STK11):c.279C>G (p.Ala93=)
|
rs786201852
|
0.00001
|
|
NM_000455.5(STK11):c.300A>G (p.Gln100=)
|
rs765890997
|
0.00001
|
|
NM_000455.5(STK11):c.312G>A (p.Arg104=)
|
rs780749732
|
0.00001
|
|
NM_000455.5(STK11):c.318G>A (p.Arg106=)
|
rs777784520
|
0.00001
|
|
NM_000455.5(STK11):c.321C>T (p.His107=)
|
rs878853987
|
0.00001
|
|
NM_000455.5(STK11):c.327T>C (p.Asn109=)
|
rs749251218
|
0.00001
|
|
NM_000455.5(STK11):c.333C>T (p.Ile111=)
|
rs1555737428
|
0.00001
|
|
NM_000455.5(STK11):c.342G>A (p.Val114=)
|
rs1441012455
|
0.00001
|
|
NM_000455.5(STK11):c.348G>T (p.Val116=)
|
rs774482643
|
0.00001
|
|
NM_000455.5(STK11):c.396C>T (p.Cys132=)
|
rs730881969
|
0.00001
|
|
NM_000455.5(STK11):c.39G>A (p.Thr13=)
|
rs765330434
|
0.00001
|
|
NM_000455.5(STK11):c.414A>G (p.Glu138=)
|
rs1045257509
|
0.00001
|
|
NM_000455.5(STK11):c.434A>G (p.Glu145Gly)
|
rs369764220
|
0.00001
|
|
NM_000455.5(STK11):c.441T>C (p.Arg147=)
|
rs786201456
|
0.00001
|
|
NM_000455.5(STK11):c.444C>T (p.Phe148=)
|
rs1283208395
|
0.00001
|
|
NM_000455.5(STK11):c.447A>G (p.Pro149=)
|
rs587780718
|
0.00001
|
|
NM_000455.5(STK11):c.449T>C (p.Val150Ala)
|
rs587781802
|
0.00001
|
|
NM_000455.5(STK11):c.45C>T (p.Gly15=)
|
rs786201234
|
0.00001
|
|
NM_000455.5(STK11):c.462C>T (p.His154=)
|
rs786201418
|
0.00001
|
|
NM_000455.5(STK11):c.464+3G>A
|
rs1060499956
|
0.00001
|
|
NM_000455.5(STK11):c.465-17G>A
|
rs761361803
|
0.00001
|
|
NM_000455.5(STK11):c.465-8G>A
|
rs878853990
|
0.00001
|
|
NM_000455.5(STK11):c.468C>T (p.Tyr156=)
|
rs786201349
|
0.00001
|
|
NM_000455.5(STK11):c.471C>T (p.Phe157=)
|
rs766257141
|
0.00001
|
|
NM_000455.5(STK11):c.480G>T (p.Leu160=)
|
rs1176365465
|
0.00001
|
|
NM_000455.5(STK11):c.48G>A (p.Glu16=)
|
rs969419908
|
0.00001
|
|
NM_000455.5(STK11):c.504T>C (p.His168=)
|
rs754986576
|
0.00001
|
|
NM_000455.5(STK11):c.51G>T (p.Leu17=)
|
rs747435838
|
0.00001
|
|
NM_000455.5(STK11):c.534G>A (p.Lys178=)
|
rs560461444
|
0.00001
|
|
NM_000455.5(STK11):c.555C>G (p.Thr185=)
|
rs1060503781
|
0.00001
|
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
|
NM_000455.5(STK11):c.576C>T (p.Ile192=)
|
rs878853991
|
0.00001
|
|
NM_000455.5(STK11):c.579C>T (p.Ser193=)
|
rs730881961
|
0.00001
|
|
NM_000455.5(STK11):c.594C>T (p.Ala198=)
|
rs772940660
|
0.00001
|
|
NM_000455.5(STK11):c.609G>A (p.Pro203=)
|
rs786201228
|
0.00001
|
|
NM_000455.5(STK11):c.614C>T (p.Ala205Val)
|
rs587782468
|
0.00001
|
|
NM_000455.5(STK11):c.617C>T (p.Ala206Val)
|
rs764244639
|
0.00001
|
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
0.00001
|
|
NM_000455.5(STK11):c.648C>T (p.Ser216=)
|
rs376083300
|
0.00001
|
|
NM_000455.5(STK11):c.657C>T (p.Phe219=)
|
rs1326889544
|
0.00001
|
|
NM_000455.5(STK11):c.663G>A (p.Pro221=)
|
rs587780720
|
0.00001
|
|
NM_000455.5(STK11):c.663G>T (p.Pro221=)
|
rs587780720
|
0.00001
|
|
NM_000455.5(STK11):c.687C>T (p.Asp229=)
|
rs770545562
|
0.00001
|
|
NM_000455.5(STK11):c.696C>T (p.Ser232=)
|
rs566823619
|
0.00001
|
|
NM_000455.5(STK11):c.69C>T (p.Asp23=)
|
rs1599914867
|
0.00001
|
|
NM_000455.5(STK11):c.6G>A (p.Glu2=)
|
rs1271482574
|
0.00001
|
|
NM_000455.5(STK11):c.720G>A (p.Ser240=)
|
rs759743897
|
0.00001
|
|
NM_000455.5(STK11):c.726G>A (p.Gly242=)
|
rs776823114
|
0.00001
|
|
NM_000455.5(STK11):c.750G>A (p.Thr250=)
|
rs748112446
|
0.00001
|
|
NM_000455.5(STK11):c.765C>T (p.Phe255=)
|
rs769912677
|
0.00001
|
|
NM_000455.5(STK11):c.789G>A (p.Leu263=)
|
rs1555738654
|
0.00001
|
|
NM_000455.5(STK11):c.810G>C (p.Gly270=)
|
rs1297520176
|
0.00001
|
|
NM_000455.5(STK11):c.837C>T (p.Gly279=)
|
rs373021819
|
0.00001
|
|
NM_000455.5(STK11):c.843G>A (p.Pro281=)
|
rs756095270
|
0.00001
|
|
NM_000455.5(STK11):c.846C>G (p.Leu282=)
|
rs777872290
|
0.00001
|
|
NM_000455.5(STK11):c.84C>T (p.Arg28=)
|
rs778468876
|
0.00001
|
|
NM_000455.5(STK11):c.879A>G (p.Glu293=)
|
rs2080787486
|
0.00001
|
|
NM_000455.5(STK11):c.882G>A (p.Pro294=)
|
rs587781178
|
0.00001
|
|
NM_000455.5(STK11):c.897C>T (p.Ser299=)
|
rs769013935
|
0.00001
|
|
NM_000455.5(STK11):c.902G>A (p.Arg301Gln)
|
rs370222210
|
0.00001
|
|
NM_000455.5(STK11):c.921-9C>T
|
rs761688641
|
0.00001
|
|
NM_000455.5(STK11):c.936A>G (p.Lys312=)
|
rs786201739
|
0.00001
|
|
NM_000455.5(STK11):c.94A>G (p.Thr32Ala)
|
rs755210880
|
0.00001
|
|
NM_000455.5(STK11):c.957A>G (p.Pro319=)
|
rs755126393
|
0.00001
|
|
NM_000455.5(STK11):c.960G>A (p.Val320=)
|
rs752961535
|
0.00001
|
|
NM_000455.5(STK11):c.963C>T (p.Pro321=)
|
rs878853993
|
0.00001
|
|
NM_000455.5(STK11):c.969A>G (p.Pro323=)
|
rs1399205535
|
0.00001
|
|
NM_000455.5(STK11):c.976C>A (p.Pro326Thr)
|
rs771632414
|
0.00001
|
|
NM_000455.5(STK11):c.981C>T (p.Asp327=)
|
rs2080796456
|
0.00001
|
|
NM_000465.4(BARD1):c.1014C>G (p.Thr338=)
|
rs864622443
|
0.00001
|
|
NM_000465.4(BARD1):c.105C>T (p.Ala35=)
|
rs1031199399
|
0.00001
|
|
NM_000465.4(BARD1):c.1083A>G (p.Glu361=)
|
rs778116528
|
0.00001
|
|
NM_000465.4(BARD1):c.108C>T (p.His36=)
|
rs1445402241
|
0.00001
|
|
NM_000465.4(BARD1):c.1159T>C (p.Phe387Leu)
|
rs759370463
|
0.00001
|
|
NM_000465.4(BARD1):c.1161C>A (p.Phe387Leu)
|
rs553790960
|
0.00001
|
|
NM_000465.4(BARD1):c.1182A>G (p.Thr394=)
|
rs780580712
|
0.00001
|
|
NM_000465.4(BARD1):c.1195T>C (p.Leu399=)
|
rs201729742
|
0.00001
|
|
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)
|
rs796666047
|
0.00001
|
|
NM_000465.4(BARD1):c.1206A>G (p.Ser402=)
|
rs786203162
|
0.00001
|
|
NM_000465.4(BARD1):c.1218A>T (p.Arg406=)
|
rs757900534
|
0.00001
|
|
NM_000465.4(BARD1):c.1239A>G (p.Ala413=)
|
rs765212498
|
0.00001
|
|
NM_000465.4(BARD1):c.1239A>T (p.Ala413=)
|
rs765212498
|
0.00001
|
|
NM_000465.4(BARD1):c.123C>A (p.Leu41=)
|
rs764410072
|
0.00001
|
|
NM_000465.4(BARD1):c.1305T>G (p.Ala435=)
|
rs372679962
|
0.00001
|
|
NM_000465.4(BARD1):c.1317C>T (p.Gly439=)
|
rs369986649
|
0.00001
|
|
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala)
|
rs730881408
|
0.00001
|
|
NM_000465.4(BARD1):c.1380T>A (p.Ala460=)
|
rs778684915
|
0.00001
|
|
NM_000465.4(BARD1):c.1383A>G (p.Gly461=)
|
rs148821907
|
0.00001
|
|
NM_000465.4(BARD1):c.1389A>G (p.Thr463=)
|
rs748796794
|
0.00001
|
|
NM_000465.4(BARD1):c.1393T>C (p.Leu465=)
|
rs779653364
|
0.00001
|
|
NM_000465.4(BARD1):c.1395+4G>A
|
rs1025329798
|
0.00001
|
|
NM_000465.4(BARD1):c.141G>A (p.Leu47=)
|
rs760186732
|
0.00001
|
|
NM_000465.4(BARD1):c.142C>T (p.Leu48=)
|
rs1057521017
|
0.00001
|
|
NM_000465.4(BARD1):c.1431G>A (p.Val477=)
|
rs543974545
|
0.00001
|
|
NM_000465.4(BARD1):c.1434A>G (p.Glu478=)
|
rs1574788954
|
0.00001
|
|
NM_000465.4(BARD1):c.1443C>T (p.Leu481=)
|
rs1286691671
|
0.00001
|
|
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)
|
rs587781874
|
0.00001
|
|
NM_000465.4(BARD1):c.1452G>A (p.Lys484=)
|
rs201841770
|
0.00001
|
|
NM_000465.4(BARD1):c.1456T>C (p.Leu486=)
|
rs1446646798
|
0.00001
|
|
NM_000465.4(BARD1):c.1470C>T (p.Thr490=)
|
rs758895846
|
0.00001
|
|
NM_000465.4(BARD1):c.1488A>C (p.Ser496=)
|
rs1415537947
|
0.00001
|
|
NM_000465.4(BARD1):c.1497C>T (p.His499=)
|
rs760665188
|
0.00001
|
|
NM_000465.4(BARD1):c.1542T>G (p.Leu514=)
|
rs770358347
|
0.00001
|
|
NM_000465.4(BARD1):c.15G>C (p.Arg5=)
|
rs769204862
|
0.00001
|
|
NM_000465.4(BARD1):c.1614T>C (p.Ser538=)
|
rs781448650
|
0.00001
|
|
NM_000465.4(BARD1):c.1623G>A (p.Ser541=)
|
rs758552128
|
0.00001
|
|
NM_000465.4(BARD1):c.1626A>G (p.Leu542=)
|
rs786201551
|
0.00001
|
|
NM_000465.4(BARD1):c.1629G>A (p.Leu543=)
|
rs748646220
|
0.00001
|
|
NM_000465.4(BARD1):c.1633C>T (p.Leu545=)
|
rs779307636
|
0.00001
|
|
NM_000465.4(BARD1):c.1662T>C (p.Ala554=)
|
rs1402521170
|
0.00001
|
|
NM_000465.4(BARD1):c.1674A>G (p.Ser558=)
|
rs1060501313
|
0.00001
|
|
NM_000465.4(BARD1):c.1678-1G>T
|
rs767208318
|
0.00001
|
|
NM_000465.4(BARD1):c.1689G>A (p.Gly563=)
|
rs762745326
|
0.00001
|
|
NM_000465.4(BARD1):c.1695T>C (p.Arg565=)
|
rs569636814
|
0.00001
|
|
NM_000465.4(BARD1):c.1704A>G (p.Gly568=)
|
rs1057520238
|
0.00001
|
|
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)
|
rs587780022
|
0.00001
|
|
NM_000465.4(BARD1):c.171G>C (p.Leu57=)
|
rs876659045
|
0.00001
|
|
NM_000465.4(BARD1):c.1731G>A (p.Leu577=)
|
rs863224364
|
0.00001
|
|
NM_000465.4(BARD1):c.173G>A (p.Arg58Lys)
|
rs774009993
|
0.00001
|
|
NM_000465.4(BARD1):c.1773T>A (p.Ile591=)
|
rs201565373
|
0.00001
|
|
NM_000465.4(BARD1):c.1791T>C (p.Tyr597=)
|
rs1356036720
|
0.00001
|
|
NM_000465.4(BARD1):c.1808C>A (p.Thr603Lys)
|
rs730881421
|
0.00001
|
|
NM_000465.4(BARD1):c.1818T>C (p.His606=)
|
rs199590147
|
0.00001
|
|
NM_000465.4(BARD1):c.1824T>G (p.Val608=)
|
rs1268678327
|
0.00001
|
|
NM_000465.4(BARD1):c.1881A>C (p.Gly627=)
|
rs968535447
|
0.00001
|
|
NM_000465.4(BARD1):c.1908A>G (p.Val636=)
|
rs1574707330
|
0.00001
|
|
NM_000465.4(BARD1):c.1920A>G (p.Leu640=)
|
rs780901872
|
0.00001
|
|
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)
|
rs730881422
|
0.00001
|
|
NM_000465.4(BARD1):c.2002-2A>G
|
rs876658260
|
0.00001
|
|
NM_000465.4(BARD1):c.2013G>A (p.Leu671=)
|
rs759021562
|
0.00001
|
|
NM_000465.4(BARD1):c.2031C>T (p.Phe677=)
|
rs573443019
|
0.00001
|
|
NM_000465.4(BARD1):c.2091A>G (p.Ala697=)
|
rs786201573
|
0.00001
|
|
NM_000465.4(BARD1):c.2091A>T (p.Ala697=)
|
rs786201573
|
0.00001
|
|
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)
|
rs150121935
|
0.00001
|
|
NM_000465.4(BARD1):c.2136C>T (p.Asp712=)
|
rs759046999
|
0.00001
|
|
NM_000465.4(BARD1):c.2145G>A (p.Gln715=)
|
rs760541330
|
0.00001
|
|
NM_000465.4(BARD1):c.2178C>T (p.Pro726=)
|
rs201873551
|
0.00001
|
|
NM_000465.4(BARD1):c.219T>C (p.Asn73=)
|
rs1695569326
|
0.00001
|
|
NM_000465.4(BARD1):c.2202A>G (p.Thr734=)
|
rs786201370
|
0.00001
|
|
NM_000465.4(BARD1):c.2211C>T (p.Ile737=)
|
rs773958595
|
0.00001
|
|
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys)
|
rs777013688
|
0.00001
|
|
NM_000465.4(BARD1):c.2217T>C (p.Tyr739=)
|
rs1057522854
|
0.00001
|
|
NM_000465.4(BARD1):c.2235T>C (p.Tyr745=)
|
rs747122703
|
0.00001
|
|
NM_000465.4(BARD1):c.2250T>G (p.Val750=)
|
rs1574702229
|
0.00001
|
|
NM_000465.4(BARD1):c.2259C>A (p.Gly753=)
|
rs753441393
|
0.00001
|
|
NM_000465.4(BARD1):c.2262A>G (p.Lys754=)
|
rs1446285640
|
0.00001
|
|
NM_000465.4(BARD1):c.2313G>A (p.Glu771=)
|
rs762887239
|
0.00001
|
|
NM_000465.4(BARD1):c.2316G>A (p.Leu772=)
|
rs1266259366
|
0.00001
|
|
NM_000465.4(BARD1):c.2328C>T (p.Asp776=)
|
rs863224673
|
0.00001
|
|
NM_000465.4(BARD1):c.267G>A (p.Pro89=)
|
rs756165637
|
0.00001
|
|
NM_000465.4(BARD1):c.27C>T (p.Asn9=)
|
rs1038616344
|
0.00001
|
|
NM_000465.4(BARD1):c.300A>G (p.Gln100=)
|
rs977731407
|
0.00001
|
|
NM_000465.4(BARD1):c.36G>A (p.Pro12=)
|
rs876659948
|
0.00001
|
|
NM_000465.4(BARD1):c.390A>G (p.Lys130=)
|
rs554652893
|
0.00001
|
|
NM_000465.4(BARD1):c.45C>T (p.Arg15=)
|
rs786201402
|
0.00001
|
|
NM_000465.4(BARD1):c.465A>G (p.Arg155=)
|
rs730881413
|
0.00001
|
|
NM_000465.4(BARD1):c.468T>C (p.Tyr156=)
|
rs1436038663
|
0.00001
|
|
NM_000465.4(BARD1):c.540T>C (p.Tyr180=)
|
rs1299740017
|
0.00001
|
|
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)
|
rs587780032
|
0.00001
|
|
NM_000465.4(BARD1):c.567A>C (p.Ala189=)
|
rs878854015
|
0.00001
|
|
NM_000465.4(BARD1):c.585T>C (p.Ala195=)
|
rs876658532
|
0.00001
|
|
NM_000465.4(BARD1):c.594T>G (p.Ala198=)
|
rs373763567
|
0.00001
|
|
NM_000465.4(BARD1):c.600A>G (p.Ala200=)
|
rs864622418
|
0.00001
|
|
NM_000465.4(BARD1):c.606T>G (p.Ser202=)
|
rs762810549
|
0.00001
|
|
NM_000465.4(BARD1):c.615G>A (p.Lys205=)
|
rs766609646
|
0.00001
|
|
NM_000465.4(BARD1):c.627A>G (p.Lys209=)
|
rs772625144
|
0.00001
|
|
NM_000465.4(BARD1):c.645C>T (p.Asn215=)
|
rs1328709218
|
0.00001
|
|
NM_000465.4(BARD1):c.651A>G (p.Lys217=)
|
rs768866006
|
0.00001
|
|
NM_000465.4(BARD1):c.669A>G (p.Glu223=)
|
rs786201963
|
0.00001
|
|
NM_000465.4(BARD1):c.6G>T (p.Pro2=)
|
rs876660278
|
0.00001
|
|
NM_000465.4(BARD1):c.726C>T (p.Phe242=)
|
rs876659277
|
0.00001
|
|
NM_000465.4(BARD1):c.735A>G (p.Gln245=)
|
rs763378916
|
0.00001
|
|
NM_000465.4(BARD1):c.759G>A (p.Gln253=)
|
rs747929767
|
0.00001
|
|
NM_000465.4(BARD1):c.75C>T (p.Ala25=)
|
rs763098407
|
0.00001
|
|
NM_000465.4(BARD1):c.765T>C (p.Asn255=)
|
rs754775017
|
0.00001
|
|
NM_000465.4(BARD1):c.781C>T (p.Leu261=)
|
rs767806228
|
0.00001
|
|
NM_000465.4(BARD1):c.807T>G (p.Ser269=)
|
rs1420328641
|
0.00001
|
|
NM_000465.4(BARD1):c.843A>G (p.Pro281=)
|
rs1559424812
|
0.00001
|
|
NM_000465.4(BARD1):c.864T>C (p.Ser288=)
|
rs771982631
|
0.00001
|
|
NM_000465.4(BARD1):c.882G>A (p.Arg294=)
|
rs778855056
|
0.00001
|
|
NM_000465.4(BARD1):c.897T>C (p.Thr299=)
|
rs559051241
|
0.00001
|
|
NM_000465.4(BARD1):c.924T>C (p.Leu308=)
|
rs758559877
|
0.00001
|
|
NM_000465.4(BARD1):c.930T>C (p.Ser310=)
|
rs1182174277
|
0.00001
|
|
NM_000465.4(BARD1):c.954T>C (p.Asn318=)
|
rs771502065
|
0.00001
|
|
NM_000465.4(BARD1):c.975C>T (p.His325=)
|
rs876660202
|
0.00001
|
|
NM_000478.6(ALPL):c.997+1G>T
|
rs1292415045
|
0.00001
|
|
NM_000481.4(AMT):c.665G>A (p.Arg222His)
|
rs562695274
|
0.00001
|
|
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)
|
rs74315477
|
0.00001
|
|
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)
|
rs74315481
|
0.00001
|
|
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)
|
rs199476388
|
0.00001
|
|
NM_000487.6(ARSA):c.178C>T (p.Arg60Trp)
|
rs867538940
|
0.00001
|
|
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)
|
rs79282516
|
0.00001
|
|
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)
|
rs121908754
|
0.00001
|
|
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)
|
rs121908758
|
0.00001
|
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
|
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)
|
rs121908749
|
0.00001
|
|
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
|
NM_000518.5(HBB):c.-78A>G
|
rs33931746
|
0.00001
|
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
|
NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu)
|
rs104894237
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)
|
rs121434333
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1645-1G>A
|
rs938576591
|
0.00001
|
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
|
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr)
|
rs370752614
|
0.00001
|
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
|
NM_000535.7(PMS2):c.1455G>A (p.Thr485=)
|
rs752665758
|
0.00001
|
|
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)
|
rs1064794577
|
0.00001
|
|
NM_000535.7(PMS2):c.1587G>A (p.Ser529=)
|
rs786201709
|
0.00001
|
|
NM_000535.7(PMS2):c.164-1G>A
|
rs763308607
|
0.00001
|
|
NM_000535.7(PMS2):c.1926A>G (p.Glu642=)
|
rs765262682
|
0.00001
|
|
NM_000535.7(PMS2):c.1929G>T (p.Gln643His)
|
rs786203379
|
0.00001
|
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
|
NM_000535.7(PMS2):c.2382dup (p.Gly795fs)
|
rs1231406078
|
0.00001
|
|
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu)
|
rs587782665
|
0.00001
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
0.00001
|
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
|
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)
|
rs587780059
|
0.00001
|
|
NM_000535.7(PMS2):c.354C>T (p.Ser118=)
|
rs760615315
|
0.00001
|
|
NM_000535.7(PMS2):c.506G>A (p.Arg169His)
|
rs730881917
|
0.00001
|
|
NM_000535.7(PMS2):c.538-1G>C
|
rs988423880
|
0.00001
|
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
|
NM_000535.7(PMS2):c.555C>T (p.Val185=)
|
rs759078497
|
0.00001
|
|
NM_000535.7(PMS2):c.598G>A (p.Val200Ile)
|
rs587778620
|
0.00001
|
|
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
|
rs1458321358
|
0.00001
|
|
NM_000535.7(PMS2):c.750C>T (p.Ser250=)
|
rs200439295
|
0.00001
|
|
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
|
rs876659736
|
0.00001
|
|
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)
|
rs587782852
|
0.00001
|
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
|
NM_000546.6(TP53):c.1023C>T (p.Phe341=)
|
rs864622369
|
0.00001
|
|
NM_000546.6(TP53):c.1032G>C (p.Leu344=)
|
rs752189180
|
0.00001
|
|
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)
|
rs755394212
|
0.00001
|
|
NM_000546.6(TP53):c.1131C>T (p.Thr377=)
|
rs1456836660
|
0.00001
|
|
NM_000546.6(TP53):c.1136G>A (p.Arg379His)
|
rs863224682
|
0.00001
|
|
NM_000546.6(TP53):c.1151T>C (p.Met384Thr)
|
rs1060501196
|
0.00001
|
|
NM_000546.6(TP53):c.123T>C (p.Asp41=)
|
rs369129220
|
0.00001
|
|
NM_000546.6(TP53):c.12G>A (p.Pro4=)
|
rs876658274
|
0.00001
|
|
NM_000546.6(TP53):c.144C>T (p.Asp48=)
|
rs587781460
|
0.00001
|
|
NM_000546.6(TP53):c.149T>C (p.Ile50Thr)
|
rs370502517
|
0.00001
|
|
NM_000546.6(TP53):c.188C>T (p.Ala63Val)
|
rs372201428
|
0.00001
|
|
NM_000546.6(TP53):c.222C>T (p.Ala74=)
|
rs786201577
|
0.00001
|
|
NM_000546.6(TP53):c.250G>A (p.Ala84Thr)
|
rs587781307
|
0.00001
|
|
NM_000546.6(TP53):c.267C>T (p.Pro89=)
|
rs786201443
|
0.00001
|
|
NM_000546.6(TP53):c.270C>T (p.Ser90=)
|
rs863224370
|
0.00001
|
|
NM_000546.6(TP53):c.27C>T (p.Ser9=)
|
rs757282628
|
0.00001
|
|
NM_000546.6(TP53):c.282A>G (p.Ser94=)
|
rs771721337
|
0.00001
|
|
NM_000546.6(TP53):c.30C>T (p.Val10=)
|
rs568171603
|
0.00001
|
|
NM_000546.6(TP53):c.321C>T (p.Tyr107=)
|
rs770776262
|
0.00001
|
|
NM_000546.6(TP53):c.331C>T (p.Leu111=)
|
rs1403707528
|
0.00001
|
|
NM_000546.6(TP53):c.348T>C (p.Ser116=)
|
rs2073452353
|
0.00001
|
|
NM_000546.6(TP53):c.354A>T (p.Thr118=)
|
rs751978853
|
0.00001
|
|
NM_000546.6(TP53):c.36C>T (p.Pro12=)
|
rs767173379
|
0.00001
|
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
|
NM_000546.6(TP53):c.376-1G>A
|
rs868137297
|
0.00001
|
|
NM_000546.6(TP53):c.390C>T (p.Leu130=)
|
rs781537596
|
0.00001
|
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
|
NM_000546.6(TP53):c.405C>T (p.Cys135=)
|
rs1057519976
|
0.00001
|
|
NM_000546.6(TP53):c.408A>G (p.Gln136=)
|
rs758781593
|
0.00001
|
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
|
NM_000546.6(TP53):c.45T>C (p.Ser15=)
|
rs766765429
|
0.00001
|
|
NM_000546.6(TP53):c.462C>T (p.Gly154=)
|
rs137852793
|
0.00001
|
|
NM_000546.6(TP53):c.468C>T (p.Arg156=)
|
rs761222871
|
0.00001
|
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
|
NM_000546.6(TP53):c.516T>C (p.Val172=)
|
rs749309577
|
0.00001
|
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
|
NM_000546.6(TP53):c.536A>G (p.His179Arg)
|
rs1057519991
|
0.00001
|
|
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)
|
rs587782596
|
0.00001
|
|
NM_000546.6(TP53):c.54A>G (p.Thr18=)
|
rs876659984
|
0.00001
|
|
NM_000546.6(TP53):c.566C>T (p.Ala189Val)
|
rs121912665
|
0.00001
|
|
NM_000546.6(TP53):c.572C>G (p.Pro191Arg)
|
rs587778718
|
0.00001
|
|
NM_000546.6(TP53):c.606T>C (p.Arg202=)
|
rs1392931620
|
0.00001
|
|
NM_000546.6(TP53):c.60A>G (p.Ser20=)
|
rs786201754
|
0.00001
|
|
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)
|
rs1057520008
|
0.00001
|
|
NM_000546.6(TP53):c.633T>G (p.Thr211=)
|
rs976434163
|
0.00001
|
|
NM_000546.6(TP53):c.642T>G (p.His214Gln)
|
rs587781386
|
0.00001
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
0.00001
|
|
NM_000546.6(TP53):c.66A>G (p.Leu22=)
|
rs748527030
|
0.00001
|
|
NM_000546.6(TP53):c.672+6G>T
|
rs766856111
|
0.00001
|
|
NM_000546.6(TP53):c.673-3T>C
|
rs1214646363
|
0.00001
|
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
|
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
|
rs121912655
|
0.00001
|
|
NM_000546.6(TP53):c.736A>G (p.Met246Val)
|
rs483352695
|
0.00001
|
|
NM_000546.6(TP53):c.74+3G>A
|
rs1229638201
|
0.00001
|
|
NM_000546.6(TP53):c.74+9A>C
|
rs1057517593
|
0.00001
|
|
NM_000546.6(TP53):c.769C>T (p.Leu257=)
|
rs779761818
|
0.00001
|
|
NM_000546.6(TP53):c.783-1G>A
|
rs1555525367
|
0.00001
|
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
|
NM_000546.6(TP53):c.840A>T (p.Arg280Ser)
|
rs1567547687
|
0.00001
|
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
|
NM_000546.6(TP53):c.855G>A (p.Glu285=)
|
rs1487868349
|
0.00001
|
|
NM_000546.6(TP53):c.867C>T (p.Leu289=)
|
rs778138282
|
0.00001
|
|
NM_000546.6(TP53):c.877G>T (p.Gly293Trp)
|
rs587780076
|
0.00001
|
|
NM_000546.6(TP53):c.885T>C (p.Pro295=)
|
rs200073907
|
0.00001
|
|
NM_000546.6(TP53):c.891C>T (p.His297=)
|
rs750578863
|
0.00001
|
|
NM_000546.6(TP53):c.90C>T (p.Asn30=)
|
rs370992294
|
0.00001
|
|
NM_000546.6(TP53):c.969G>A (p.Leu323=)
|
rs672601297
|
0.00001
|
|
NM_000548.5(TSC2):c.*4C>T
|
rs368282661
|
0.00001
|
|
NM_000548.5(TSC2):c.1004C>T (p.Ser335Phe)
|
rs45517144
|
0.00001
|
|
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe)
|
rs397515146
|
0.00001
|
|
NM_000548.5(TSC2):c.1068G>A (p.Val356=)
|
rs760584946
|
0.00001
|
|
NM_000548.5(TSC2):c.1077C>T (p.Asp359=)
|
rs1555500558
|
0.00001
|
|
NM_000548.5(TSC2):c.1104C>T (p.Leu368=)
|
rs1352216421
|
0.00001
|
|
NM_000548.5(TSC2):c.1113G>C (p.Gln371His)
|
rs571767462
|
0.00001
|
|
NM_000548.5(TSC2):c.1122C>G (p.Thr374=)
|
rs1555500988
|
0.00001
|
|
NM_000548.5(TSC2):c.1134G>A (p.Pro378=)
|
rs754343186
|
0.00001
|
|
NM_000548.5(TSC2):c.1146C>A (p.Thr382=)
|
rs887128869
|
0.00001
|
|
NM_000548.5(TSC2):c.1159C>T (p.Leu387=)
|
rs1307333182
|
0.00001
|
|
NM_000548.5(TSC2):c.1164G>A (p.Leu388=)
|
rs1416852086
|
0.00001
|
|
NM_000548.5(TSC2):c.1206G>A (p.Gly402=)
|
rs558873383
|
0.00001
|
|
NM_000548.5(TSC2):c.123C>T (p.Thr41=)
|
rs1060504100
|
0.00001
|
|
NM_000548.5(TSC2):c.1269C>T (p.Leu423=)
|
rs1323588796
|
0.00001
|
|
NM_000548.5(TSC2):c.1284C>T (p.Ser428=)
|
rs1325874616
|
0.00001
|
|
NM_000548.5(TSC2):c.1339G>A (p.Ala447Thr)
|
rs1408196847
|
0.00001
|
|
NM_000548.5(TSC2):c.1362-5C>T
|
rs372424945
|
0.00001
|
|
NM_000548.5(TSC2):c.1371C>G (p.Ser457=)
|
rs1060504093
|
0.00001
|
|
NM_000548.5(TSC2):c.1380C>T (p.Ala460=)
|
rs1060504113
|
0.00001
|
|
NM_000548.5(TSC2):c.1401C>T (p.Asp467=)
|
rs1433989426
|
0.00001
|
|
NM_000548.5(TSC2):c.1404G>A (p.Val468=)
|
rs778247396
|
0.00001
|
|
NM_000548.5(TSC2):c.1407G>A (p.Leu469=)
|
rs1458720483
|
0.00001
|
|
NM_000548.5(TSC2):c.1422C>T (p.Leu474=)
|
rs565646854
|
0.00001
|
|
NM_000548.5(TSC2):c.1440T>C (p.Tyr480=)
|
rs45514794
|
0.00001
|
|
NM_000548.5(TSC2):c.1450C>T (p.Leu484=)
|
rs2087007486
|
0.00001
|
|
NM_000548.5(TSC2):c.1455T>C (p.Ile485=)
|
rs1239743041
|
0.00001
|
|
NM_000548.5(TSC2):c.1482C>G (p.Ser494=)
|
rs549189961
|
0.00001
|
|
NM_000548.5(TSC2):c.1554C>A (p.Gly518=)
|
rs1274545629
|
0.00001
|
|
NM_000548.5(TSC2):c.1584G>A (p.Leu528=)
|
rs1478821497
|
0.00001
|
|
NM_000548.5(TSC2):c.1596G>A (p.Glu532=)
|
rs756466484
|
0.00001
|
|
NM_000548.5(TSC2):c.1599+8C>A
|
rs780311327
|
0.00001
|
|
NM_000548.5(TSC2):c.1635G>C (p.Leu545=)
|
rs755923499
|
0.00001
|
|
NM_000548.5(TSC2):c.1653C>T (p.Ala551=)
|
rs202171361
|
0.00001
|
|
NM_000548.5(TSC2):c.1659C>T (p.Tyr553=)
|
rs1358358656
|
0.00001
|
|
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu)
|
rs45471596
|
0.00001
|
|
NM_000548.5(TSC2):c.1676A>T (p.Asp559Val)
|
rs767619776
|
0.00001
|
|
NM_000548.5(TSC2):c.1686A>T (p.Thr562=)
|
rs755900760
|
0.00001
|
|
NM_000548.5(TSC2):c.1689C>T (p.Ala563=)
|
rs779858018
|
0.00001
|
|
NM_000548.5(TSC2):c.1717-14T>C
|
rs780658386
|
0.00001
|
|
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg)
|
rs775195398
|
0.00001
|
|
NM_000548.5(TSC2):c.1746C>T (p.His582=)
|
rs876658921
|
0.00001
|
|
NM_000548.5(TSC2):c.1754G>A (p.Arg585His)
|
rs397515063
|
0.00001
|
|
NM_000548.5(TSC2):c.1785G>A (p.Gln595=)
|
rs150352976
|
0.00001
|
|
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=)
|
rs45509094
|
0.00001
|
|
NM_000548.5(TSC2):c.1800C>T (p.His600=)
|
rs762782913
|
0.00001
|
|
NM_000548.5(TSC2):c.1803C>T (p.Ser601=)
|
rs1044401463
|
0.00001
|
|
NM_000548.5(TSC2):c.1806C>T (p.Tyr602=)
|
rs367553206
|
0.00001
|
|
NM_000548.5(TSC2):c.1833G>A (p.Arg611=)
|
rs1270155533
|
0.00001
|
|
NM_000548.5(TSC2):c.1836G>A (p.Leu612=)
|
rs758839898
|
0.00001
|
|
NM_000548.5(TSC2):c.1839+10C>T
|
rs868388786
|
0.00001
|
|
NM_000548.5(TSC2):c.1851C>T (p.Phe617=)
|
rs1446662814
|
0.00001
|
|
NM_000548.5(TSC2):c.1854G>C (p.Leu618=)
|
rs1060504088
|
0.00001
|
|
NM_000548.5(TSC2):c.1863G>A (p.Leu621=)
|
rs1485599658
|
0.00001
|
|
NM_000548.5(TSC2):c.1923C>T (p.Ser641=)
|
rs1555505825
|
0.00001
|
|
NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr)
|
rs758301934
|
0.00001
|
|
NM_000548.5(TSC2):c.1945A>G (p.Met649Val)
|
rs762331610
|
0.00001
|
|
NM_000548.5(TSC2):c.1968G>A (p.Glu656=)
|
rs761781650
|
0.00001
|
|
NM_000548.5(TSC2):c.1993C>G (p.Pro665Ala)
|
rs1184908674
|
0.00001
|
|
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=)
|
rs1186913814
|
0.00001
|
|
NM_000548.5(TSC2):c.2062C>T (p.Leu688=)
|
rs1479736808
|
0.00001
|
|
NM_000548.5(TSC2):c.2077C>T (p.Leu693=)
|
rs1167258871
|
0.00001
|
|
NM_000548.5(TSC2):c.2098-13C>T
|
rs375903453
|
0.00001
|
|
NM_000548.5(TSC2):c.2098-9T>C
|
rs755416873
|
0.00001
|
|
NM_000548.5(TSC2):c.2106C>T (p.Asp702=)
|
rs1396298404
|
0.00001
|
|
NM_000548.5(TSC2):c.2122C>T (p.Leu708=)
|
rs778040604
|
0.00001
|
|
NM_000548.5(TSC2):c.2128C>T (p.Leu710=)
|
rs1225700612
|
0.00001
|
|
NM_000548.5(TSC2):c.2157T>C (p.Tyr719=)
|
rs902456479
|
0.00001
|
|
NM_000548.5(TSC2):c.2166C>T (p.Leu722=)
|
rs1009050362
|
0.00001
|
|
NM_000548.5(TSC2):c.2196G>C (p.Gln732His)
|
rs765646245
|
0.00001
|
|
NM_000548.5(TSC2):c.2219T>C (p.Met740Thr)
|
rs757347786
|
0.00001
|
|
NM_000548.5(TSC2):c.2221-19G>A
|
rs775879508
|
0.00001
|
|
NM_000548.5(TSC2):c.2226A>G (p.Ser742=)
|
rs1060504097
|
0.00001
|
|
NM_000548.5(TSC2):c.2238A>G (p.Thr746=)
|
rs1060504115
|
0.00001
|
|
NM_000548.5(TSC2):c.2245C>T (p.Arg749Trp)
|
rs377397369
|
0.00001
|
|
NM_000548.5(TSC2):c.2250C>T (p.Leu750=)
|
rs1387127083
|
0.00001
|
|
NM_000548.5(TSC2):c.2298G>C (p.Val766=)
|
rs1157138703
|
0.00001
|
|
NM_000548.5(TSC2):c.2301T>A (p.Val767=)
|
rs531724951
|
0.00001
|
|
NM_000548.5(TSC2):c.2308C>T (p.Leu770=)
|
rs762215859
|
0.00001
|
|
NM_000548.5(TSC2):c.2322C>T (p.Ile774=)
|
rs760885994
|
0.00001
|
|
NM_000548.5(TSC2):c.2337C>T (p.Tyr779=)
|
rs1060504118
|
0.00001
|
|
NM_000548.5(TSC2):c.234G>A (p.Val78=)
|
rs1347487177
|
0.00001
|
|
NM_000548.5(TSC2):c.2355+6A>T
|
rs904030973
|
0.00001
|
|
NM_000548.5(TSC2):c.2355+8G>A
|
rs199558375
|
0.00001
|
|
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile)
|
rs779472379
|
0.00001
|
|
NM_000548.5(TSC2):c.2454C>T (p.Ile818=)
|
rs786201599
|
0.00001
|
|
NM_000548.5(TSC2):c.2466G>A (p.Ala822=)
|
rs141728350
|
0.00001
|
|
NM_000548.5(TSC2):c.2467C>T (p.Leu823=)
|
rs554509064
|
0.00001
|
|
NM_000548.5(TSC2):c.2479G>A (p.Val827Met)
|
rs543738044
|
0.00001
|
|
NM_000548.5(TSC2):c.2496C>T (p.His832=)
|
rs1225070343
|
0.00001
|
|
NM_000548.5(TSC2):c.2526A>G (p.Pro842=)
|
rs753466189
|
0.00001
|
|
NM_000548.5(TSC2):c.2529G>T (p.Leu843=)
|
rs759108698
|
0.00001
|
|
NM_000548.5(TSC2):c.252G>A (p.Ala84=)
|
rs1316543957
|
0.00001
|
|
NM_000548.5(TSC2):c.2546-4G>A
|
rs746958032
|
0.00001
|
|
NM_000548.5(TSC2):c.2553C>T (p.Ala851=)
|
rs745687916
|
0.00001
|
|
NM_000548.5(TSC2):c.2571C>T (p.Tyr857=)
|
rs774063865
|
0.00001
|
|
NM_000548.5(TSC2):c.2595T>C (p.Tyr865=)
|
rs1277430773
|
0.00001
|
|
NM_000548.5(TSC2):c.2598C>T (p.Ala866=)
|
rs1395372159
|
0.00001
|
|
NM_000548.5(TSC2):c.2601T>C (p.Ser867=)
|
rs878854086
|
0.00001
|
|
NM_000548.5(TSC2):c.2610C>T (p.Ala870=)
|
rs755870234
|
0.00001
|
|
NM_000548.5(TSC2):c.2631C>T (p.Asn877=)
|
rs45517251
|
0.00001
|
|
NM_000548.5(TSC2):c.2655C>T (p.Ile885=)
|
rs1060504116
|
0.00001
|
|
NM_000548.5(TSC2):c.2736C>T (p.Ile912=)
|
rs1366613803
|
0.00001
|
|
NM_000548.5(TSC2):c.273G>A (p.Pro91=)
|
rs772296140
|
0.00001
|
|
NM_000548.5(TSC2):c.2742+3G>A
|
rs373935836
|
0.00001
|
|
NM_000548.5(TSC2):c.2748G>A (p.Leu916=)
|
rs757674443
|
0.00001
|
|
NM_000548.5(TSC2):c.2763C>A (p.Leu921=)
|
rs771817176
|
0.00001
|
|
NM_000548.5(TSC2):c.2766G>A (p.Leu922=)
|
rs772858520
|
0.00001
|
|
NM_000548.5(TSC2):c.2814T>C (p.Thr938=)
|
rs950740348
|
0.00001
|
|
NM_000548.5(TSC2):c.2820C>G (p.Leu940=)
|
rs876659493
|
0.00001
|
|
NM_000548.5(TSC2):c.2823C>T (p.Asn941=)
|
rs750806272
|
0.00001
|
|
NM_000548.5(TSC2):c.2838-13C>T
|
rs1419094468
|
0.00001
|
|
NM_000548.5(TSC2):c.2838-3T>C
|
rs553942147
|
0.00001
|
|
NM_000548.5(TSC2):c.2838-6C>T
|
rs528706539
|
0.00001
|
|
NM_000548.5(TSC2):c.2844G>A (p.Arg948=)
|
rs1060504114
|
0.00001
|
|
NM_000548.5(TSC2):c.2870T>G (p.Leu957Trp)
|
rs200030367
|
0.00001
|
|
NM_000548.5(TSC2):c.2886C>T (p.Pro962=)
|
rs140202176
|
0.00001
|
|
NM_000548.5(TSC2):c.2910T>C (p.Ser970=)
|
rs777705428
|
0.00001
|
|
NM_000548.5(TSC2):c.2997C>T (p.Ser999=)
|
rs893757571
|
0.00001
|
|
NM_000548.5(TSC2):c.2998T>C (p.Leu1000=)
|
rs756679047
|
0.00001
|
|
NM_000548.5(TSC2):c.3021C>T (p.Ser1007=)
|
rs201516931
|
0.00001
|
|
NM_000548.5(TSC2):c.3022G>A (p.Val1008Met)
|
rs397514985
|
0.00001
|
|
NM_000548.5(TSC2):c.3027C>A (p.Ala1009=)
|
rs1320888448
|
0.00001
|
|
NM_000548.5(TSC2):c.3030G>A (p.Gln1010=)
|
rs776658284
|
0.00001
|
|
NM_000548.5(TSC2):c.3054C>T (p.Leu1018=)
|
rs762570079
|
0.00001
|
|
NM_000548.5(TSC2):c.3057C>T (p.His1019=)
|
rs1060504102
|
0.00001
|
|
NM_000548.5(TSC2):c.3075C>T (p.Thr1025=)
|
rs1596382606
|
0.00001
|
|
NM_000548.5(TSC2):c.3132-11_3132-10del
|
rs2089819688
|
0.00001
|
|
NM_000548.5(TSC2):c.3132-13C>T
|
rs371948435
|
0.00001
|
|
NM_000548.5(TSC2):c.3150C>T (p.Phe1050=)
|
rs1060504105
|
0.00001
|
|
NM_000548.5(TSC2):c.3171C>G (p.Thr1057=)
|
rs1487006409
|
0.00001
|
|
NM_000548.5(TSC2):c.3201C>G (p.Val1067=)
|
rs781532053
|
0.00001
|
|
NM_000548.5(TSC2):c.3233G>A (p.Arg1078Gln)
|
rs368095502
|
0.00001
|
|
NM_000548.5(TSC2):c.324C>T (p.Ile108=)
|
rs973500815
|
0.00001
|
|
NM_000548.5(TSC2):c.3253T>C (p.Ser1085Pro)
|
rs767655384
|
0.00001
|
|
NM_000548.5(TSC2):c.3273C>T (p.Gly1091=)
|
rs1060500971
|
0.00001
|
|
NM_000548.5(TSC2):c.327G>A (p.Val109=)
|
rs754348511
|
0.00001
|
|
NM_000548.5(TSC2):c.3282G>A (p.Ser1094=)
|
rs1060504095
|
0.00001
|
|
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=)
|
rs150126331
|
0.00001
|
|
NM_000548.5(TSC2):c.3297G>C (p.Gly1099=)
|
rs138459325
|
0.00001
|
|
NM_000548.5(TSC2):c.3303T>C (p.His1101=)
|
rs1233334406
|
0.00001
|
|
NM_000548.5(TSC2):c.3306G>C (p.Val1102=)
|
rs762917290
|
0.00001
|
|
NM_000548.5(TSC2):c.3318G>A (p.Lys1106=)
|
rs1060504119
|
0.00001
|
|
NM_000548.5(TSC2):c.336+10A>G
|
rs587778005
|
0.00001
|
|
NM_000548.5(TSC2):c.336+8C>T
|
rs779174834
|
0.00001
|
|
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)
|
rs778352969
|
0.00001
|
|
NM_000548.5(TSC2):c.3369G>A (p.Gly1123=)
|
rs1555510958
|
0.00001
|
|
NM_000548.5(TSC2):c.337-3T>C
|
rs770515822
|
0.00001
|
|
NM_000548.5(TSC2):c.3390C>T (p.Ser1130=)
|
rs867238767
|
0.00001
|
|
NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr)
|
rs763122999
|
0.00001
|
|
NM_000548.5(TSC2):c.3398-9C>T
|
rs555194713
|
0.00001
|
|
NM_000548.5(TSC2):c.339C>A (p.Gly113=)
|
rs368451664
|
0.00001
|
|
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu)
|
rs397515162
|
0.00001
|
|
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=)
|
rs749633483
|
0.00001
|
|
NM_000548.5(TSC2):c.346T>C (p.Leu116=)
|
rs751923657
|
0.00001
|
|
NM_000548.5(TSC2):c.3480T>C (p.Thr1160=)
|
rs766888262
|
0.00001
|
|
NM_000548.5(TSC2):c.3480T>G (p.Thr1160=)
|
rs766888262
|
0.00001
|
|
NM_000548.5(TSC2):c.3486A>G (p.Pro1162=)
|
rs1277144134
|
0.00001
|
|
NM_000548.5(TSC2):c.351G>A (p.Gly117=)
|
rs1555497554
|
0.00001
|
|
NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln)
|
rs368666554
|
0.00001
|
|
NM_000548.5(TSC2):c.3528T>C (p.Pro1176=)
|
rs1157894225
|
0.00001
|
|
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=)
|
rs139313964
|
0.00001
|
|
NM_000548.5(TSC2):c.3570G>A (p.Leu1190=)
|
rs1366398727
|
0.00001
|
|
NM_000548.5(TSC2):c.3573C>T (p.Thr1191=)
|
rs768318835
|
0.00001
|
|
NM_000548.5(TSC2):c.3591C>T (p.Ile1197=)
|
rs765503216
|
0.00001
|
|
NM_000548.5(TSC2):c.3594G>A (p.Leu1198=)
|
rs202114637
|
0.00001
|
|
NM_000548.5(TSC2):c.3606C>T (p.Pro1202=)
|
rs772580979
|
0.00001
|
|
NM_000548.5(TSC2):c.3615C>T (p.Asn1205=)
|
rs924403519
|
0.00001
|
|
NM_000548.5(TSC2):c.3625C>T (p.Leu1209=)
|
rs1466425189
|
0.00001
|
|
NM_000548.5(TSC2):c.3634C>T (p.Leu1212=)
|
rs1358537146
|
0.00001
|
|
NM_000548.5(TSC2):c.3639G>A (p.Glu1213=)
|
rs747862818
|
0.00001
|
|
NM_000548.5(TSC2):c.3675C>T (p.Asn1225=)
|
rs1483188996
|
0.00001
|
|
NM_000548.5(TSC2):c.3682C>T (p.Leu1228=)
|
rs938124834
|
0.00001
|
|
NM_000548.5(TSC2):c.3687G>A (p.Gln1229=)
|
rs140384709
|
0.00001
|
|
NM_000548.5(TSC2):c.3690G>A (p.Glu1230=)
|
rs876659207
|
0.00001
|
|
NM_000548.5(TSC2):c.3696T>C (p.Ser1232=)
|
rs767812115
|
0.00001
|
|
NM_000548.5(TSC2):c.3699C>T (p.Asn1233=)
|
rs773240506
|
0.00001
|
|
NM_000548.5(TSC2):c.3702C>T (p.Ala1234=)
|
rs760755935
|
0.00001
|
|
NM_000548.5(TSC2):c.3705C>T (p.Leu1235=)
|
rs1386839308
|
0.00001
|
|
NM_000548.5(TSC2):c.3717G>A (p.Glu1239=)
|
rs765060368
|
0.00001
|
|
NM_000548.5(TSC2):c.3735G>A (p.Arg1245=)
|
rs756959674
|
0.00001
|
|
NM_000548.5(TSC2):c.3739A>G (p.Thr1247Ala)
|
rs369961807
|
0.00001
|
|
NM_000548.5(TSC2):c.3750C>T (p.Tyr1250=)
|
rs45517308
|
0.00001
|
|
NM_000548.5(TSC2):c.3757C>T (p.Leu1253=)
|
rs1596400529
|
0.00001
|
|
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=)
|
rs786202178
|
0.00001
|
|
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=)
|
rs199742312
|
0.00001
|
|
NM_000548.5(TSC2):c.3783C>T (p.Ala1261=)
|
rs2090170500
|
0.00001
|
|
NM_000548.5(TSC2):c.378C>G (p.Val126=)
|
rs1222534983
|
0.00001
|
|
NM_000548.5(TSC2):c.3798G>A (p.Leu1266=)
|
rs1187813837
|
0.00001
|
|
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His)
|
rs200577441
|
0.00001
|
|
NM_000548.5(TSC2):c.3814+10A>G
|
rs200309006
|
0.00001
|
|
NM_000548.5(TSC2):c.3814+7G>A
|
rs372189946
|
0.00001
|
|
NM_000548.5(TSC2):c.3814+9C>A
|
rs371944932
|
0.00001
|
|
NM_000548.5(TSC2):c.3816G>A (p.Val1272=)
|
rs45517314
|
0.00001
|
|
NM_000548.5(TSC2):c.3819C>T (p.Ala1273=)
|
rs1248167345
|
0.00001
|
|
NM_000548.5(TSC2):c.3843C>T (p.Ser1281=)
|
rs1223688571
|
0.00001
|
|
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=)
|
rs368712041
|
0.00001
|
|
NM_000548.5(TSC2):c.3927T>A (p.Pro1309=)
|
rs1488161104
|
0.00001
|
|
NM_000548.5(TSC2):c.3933G>T (p.Leu1311=)
|
rs768160843
|
0.00001
|
|
NM_000548.5(TSC2):c.3948G>T (p.Gly1316=)
|
rs763278787
|
0.00001
|
|
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile)
|
rs767495365
|
0.00001
|
|
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val)
|
rs587778736
|
0.00001
|
|
NM_000548.5(TSC2):c.3974G>A (p.Gly1325Asp)
|
rs754680848
|
0.00001
|
|
NM_000548.5(TSC2):c.3999C>T (p.Tyr1333=)
|
rs775604492
|
0.00001
|
|
NM_000548.5(TSC2):c.4006-6T>C
|
rs1060500953
|
0.00001
|
|
NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe)
|
rs200411484
|
0.00001
|
|
NM_000548.5(TSC2):c.4017C>T (p.Val1339=)
|
rs876658217
|
0.00001
|
|
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val)
|
rs201979616
|
0.00001
|
|
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu)
|
rs1555513920
|
0.00001
|
|
NM_000548.5(TSC2):c.4074C>T (p.Pro1358=)
|
rs144098854
|
0.00001
|
|
NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys)
|
rs397514997
|
0.00001
|
|
NM_000548.5(TSC2):c.4080G>A (p.Glu1360=)
|
rs786203798
|
0.00001
|
|
NM_000548.5(TSC2):c.4082G>A (p.Arg1361Gln)
|
rs762798984
|
0.00001
|
|
NM_000548.5(TSC2):c.4140G>A (p.Gln1380=)
|
rs1596416227
|
0.00001
|
|
NM_000548.5(TSC2):c.4170G>A (p.Glu1390=)
|
rs1244952951
|
0.00001
|
|
NM_000548.5(TSC2):c.4176G>A (p.Gln1392=)
|
rs749930791
|
0.00001
|
|
NM_000548.5(TSC2):c.4182G>A (p.Leu1394=)
|
rs1191824850
|
0.00001
|
|
NM_000548.5(TSC2):c.4191C>T (p.Ile1397=)
|
rs1170748581
|
0.00001
|
|
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=)
|
rs1285012780
|
0.00001
|
|
NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg)
|
rs763497329
|
0.00001
|
|
NM_000548.5(TSC2):c.4275G>A (p.Gly1425=)
|
rs1057522238
|
0.00001
|
|
NM_000548.5(TSC2):c.4279A>G (p.Ser1427Gly)
|
rs1248855623
|
0.00001
|
|
NM_000548.5(TSC2):c.429C>T (p.Phe143=)
|
rs137854406
|
0.00001
|
|
NM_000548.5(TSC2):c.4332C>G (p.Pro1444=)
|
rs373973956
|
0.00001
|
|
NM_000548.5(TSC2):c.4358C>T (p.Pro1453Leu)
|
rs748182471
|
0.00001
|
|
NM_000548.5(TSC2):c.4359C>T (p.Pro1453=)
|
rs1212442267
|
0.00001
|
|
NM_000548.5(TSC2):c.4383C>T (p.Tyr1461=)
|
rs397514977
|
0.00001
|
|
NM_000548.5(TSC2):c.4389C>T (p.Ile1463=)
|
rs1555514425
|
0.00001
|
|
NM_000548.5(TSC2):c.4425A>C (p.Val1475=)
|
rs878854106
|
0.00001
|
|
NM_000548.5(TSC2):c.4503C>T (p.Phe1501=)
|
rs778332133
|
0.00001
|
|
NM_000548.5(TSC2):c.4504C>T (p.Leu1502=)
|
rs928525608
|
0.00001
|
|
NM_000548.5(TSC2):c.4554C>T (p.Ile1518=)
|
rs1204199739
|
0.00001
|
|
NM_000548.5(TSC2):c.4555C>T (p.Leu1519=)
|
rs958487832
|
0.00001
|
|
NM_000548.5(TSC2):c.4569+4G>A
|
rs1051944517
|
0.00001
|
|
NM_000548.5(TSC2):c.456C>T (p.His152=)
|
rs1596265401
|
0.00001
|
|
NM_000548.5(TSC2):c.4570-3C>T
|
rs1166715944
|
0.00001
|
|
NM_000548.5(TSC2):c.4581T>C (p.Phe1527=)
|
rs745860116
|
0.00001
|
|
NM_000548.5(TSC2):c.4614A>G (p.Pro1538=)
|
rs1382897280
|
0.00001
|
|
NM_000548.5(TSC2):c.4626C>A (p.Thr1542=)
|
rs1164781795
|
0.00001
|
|
NM_000548.5(TSC2):c.4635C>T (p.Ile1545=)
|
rs757388437
|
0.00001
|
|
NM_000548.5(TSC2):c.4659C>G (p.Gly1553=)
|
rs202212109
|
0.00001
|
|
NM_000548.5(TSC2):c.4689C>T (p.Ser1563=)
|
rs45517363
|
0.00001
|
|
NM_000548.5(TSC2):c.4692T>C (p.Asn1564=)
|
rs774664591
|
0.00001
|
|
NM_000548.5(TSC2):c.4707C>T (p.Tyr1569=)
|
rs397515277
|
0.00001
|
|
NM_000548.5(TSC2):c.4731C>T (p.Gly1577=)
|
rs920181663
|
0.00001
|
|
NM_000548.5(TSC2):c.4732C>T (p.Leu1578=)
|
rs917807471
|
0.00001
|
|
NM_000548.5(TSC2):c.4740G>T (p.Arg1580=)
|
rs930171871
|
0.00001
|
|
NM_000548.5(TSC2):c.4779C>T (p.Tyr1593=)
|
rs45517368
|
0.00001
|
|
NM_000548.5(TSC2):c.4803T>G (p.Gly1601=)
|
rs377474730
|
0.00001
|
|
NM_000548.5(TSC2):c.481+9C>T
|
rs201026150
|
0.00001
|
|
NM_000548.5(TSC2):c.482-4C>T
|
rs780938957
|
0.00001
|
|
NM_000548.5(TSC2):c.4824C>T (p.Tyr1608=)
|
rs1422829075
|
0.00001
|
|
NM_000548.5(TSC2):c.4833C>T (p.His1611=)
|
rs765271161
|
0.00001
|
|
NM_000548.5(TSC2):c.4839C>T (p.Asp1613=)
|
rs876660657
|
0.00001
|
|
NM_000548.5(TSC2):c.4850-12G>A
|
rs371810493
|
0.00001
|
|
NM_000548.5(TSC2):c.4850-8A>G
|
rs372258482
|
0.00001
|
|
NM_000548.5(TSC2):c.4850-9C>T
|
rs778560020
|
0.00001
|
|
NM_000548.5(TSC2):c.4860C>T (p.His1620=)
|
rs1189943599
|
0.00001
|
|
NM_000548.5(TSC2):c.486C>T (p.Asp162=)
|
rs45473598
|
0.00001
|
|
NM_000548.5(TSC2):c.4886A>G (p.Asp1629Gly)
|
rs767444397
|
0.00001
|
|
NM_000548.5(TSC2):c.4893C>T (p.Asp1631=)
|
rs772915632
|
0.00001
|
|
NM_000548.5(TSC2):c.4899C>T (p.His1633=)
|
rs1223963841
|
0.00001
|
|
NM_000548.5(TSC2):c.4914G>A (p.Lys1638=)
|
rs137854094
|
0.00001
|
|
NM_000548.5(TSC2):c.492C>T (p.Val164=)
|
rs1424637610
|
0.00001
|
|
NM_000548.5(TSC2):c.4941C>T (p.Ser1647=)
|
rs780279747
|
0.00001
|
|
NM_000548.5(TSC2):c.4942A>G (p.Ile1648Val)
|
rs749554579
|
0.00001
|
|
NM_000548.5(TSC2):c.4950C>T (p.Tyr1650=)
|
rs1283177454
|
0.00001
|
|
NM_000548.5(TSC2):c.4977T>G (p.Leu1659=)
|
rs2090868794
|
0.00001
|
|
NM_000548.5(TSC2):c.4980C>T (p.Gly1660=)
|
rs2090869322
|
0.00001
|
|
NM_000548.5(TSC2):c.4990-11T>C
|
rs1006709973
|
0.00001
|
|
NM_000548.5(TSC2):c.5022C>T (p.Thr1674=)
|
rs777184691
|
0.00001
|
|
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=)
|
rs876658185
|
0.00001
|
|
NM_000548.5(TSC2):c.5043C>T (p.Asn1681=)
|
rs45476793
|
0.00001
|
|
NM_000548.5(TSC2):c.5049G>T (p.Val1683=)
|
rs1256890176
|
0.00001
|
|
NM_000548.5(TSC2):c.5058G>A (p.Gln1686=)
|
rs200700923
|
0.00001
|
|
NM_000548.5(TSC2):c.5061C>T (p.Cys1687=)
|
rs779923426
|
0.00001
|
|
NM_000548.5(TSC2):c.5069-5C>T
|
rs762149472
|
0.00001
|
|
NM_000548.5(TSC2):c.5088C>T (p.Asp1696=)
|
rs766472320
|
0.00001
|
|
NM_000548.5(TSC2):c.5091C>T (p.Thr1697=)
|
rs111675922
|
0.00001
|
|
NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg)
|
rs1397179937
|
0.00001
|
|
NM_000548.5(TSC2):c.5109G>A (p.Val1703=)
|
rs770413433
|
0.00001
|
|
NM_000548.5(TSC2):c.5118C>T (p.Arg1706=)
|
rs397515079
|
0.00001
|
|
NM_000548.5(TSC2):c.5127C>T (p.Pro1709=)
|
rs200162473
|
0.00001
|
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
|
NM_000548.5(TSC2):c.5184C>T (p.Ser1728=)
|
rs397514955
|
0.00001
|
|
NM_000548.5(TSC2):c.5196C>T (p.Pro1732=)
|
rs910514279
|
0.00001
|
|
NM_000548.5(TSC2):c.5205C>T (p.Ile1735=)
|
rs1308899138
|
0.00001
|
|
NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser)
|
rs780112037
|
0.00001
|
|
NM_000548.5(TSC2):c.5211C>A (p.Pro1737=)
|
rs151298910
|
0.00001
|
|
NM_000548.5(TSC2):c.5232C>T (p.Leu1744=)
|
rs772865175
|
0.00001
|
|
NM_000548.5(TSC2):c.5238C>T (p.His1746=)
|
rs1060504084
|
0.00001
|
|
NM_000548.5(TSC2):c.5260-14G>A
|
rs745529697
|
0.00001
|
|
NM_000548.5(TSC2):c.5276C>T (p.Ala1759Val)
|
rs45477298
|
0.00001
|
|
NM_000548.5(TSC2):c.5280C>T (p.Tyr1760=)
|
rs1555441203
|
0.00001
|
|
NM_000548.5(TSC2):c.5286C>T (p.Asn1762=)
|
rs757204634
|
0.00001
|
|
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg)
|
rs45517418
|
0.00001
|
|
NM_000548.5(TSC2):c.5329C>T (p.Pro1777Ser)
|
rs781226141
|
0.00001
|
|
NM_000548.5(TSC2):c.532C>T (p.Leu178=)
|
rs1465941679
|
0.00001
|
|
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg)
|
rs748947919
|
0.00001
|
|
NM_000548.5(TSC2):c.5337G>A (p.Gln1779=)
|
rs768237144
|
0.00001
|
|
NM_000548.5(TSC2):c.5343A>G (p.Pro1781=)
|
rs747614356
|
0.00001
|
|
NM_000548.5(TSC2):c.5352C>G (p.Pro1784=)
|
rs1367848310
|
0.00001
|
|
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg)
|
rs770117004
|
0.00001
|
|
NM_000548.5(TSC2):c.5367G>A (p.Glu1789=)
|
rs966695764
|
0.00001
|
|
NM_000548.5(TSC2):c.5370G>C (p.Val1790=)
|
rs762032752
|
0.00001
|
|
NM_000548.5(TSC2):c.5379G>A (p.Arg1793=)
|
rs750392366
|
0.00001
|
|
NM_000548.5(TSC2):c.5400G>C (p.Val1800=)
|
rs777327091
|
0.00001
|
|
NM_000548.5(TSC2):c.5406C>T (p.Asp1802=)
|
rs746376375
|
0.00001
|
|
NM_000548.5(TSC2):c.5409C>T (p.Phe1803=)
|
rs770270816
|
0.00001
|
|
NM_000548.5(TSC2):c.5416T>C (p.Phe1806Leu)
|
rs1060500910
|
0.00001
|
|
NM_000548.5(TSC2):c.5423G>A (p.Ter1808=)
|
rs762120606
|
0.00001
|
|
NM_000548.5(TSC2):c.558C>T (p.Phe186=)
|
rs775642056
|
0.00001
|
|
NM_000548.5(TSC2):c.573C>T (p.Leu191=)
|
rs397515059
|
0.00001
|
|
NM_000548.5(TSC2):c.576C>T (p.Asp192=)
|
rs761704292
|
0.00001
|
|
NM_000548.5(TSC2):c.579G>A (p.Glu193=)
|
rs1192379518
|
0.00001
|
|
NM_000548.5(TSC2):c.582C>T (p.Tyr194=)
|
rs750174170
|
0.00001
|
|
NM_000548.5(TSC2):c.599+10G>C
|
rs1037449903
|
0.00001
|
|
NM_000548.5(TSC2):c.600-18G>A
|
rs199683502
|
0.00001
|
|
NM_000548.5(TSC2):c.642C>T (p.Asp214=)
|
rs763726222
|
0.00001
|
|
NM_000548.5(TSC2):c.655C>T (p.Leu219=)
|
rs369046625
|
0.00001
|
|
NM_000548.5(TSC2):c.691C>T (p.Leu231=)
|
rs1555498820
|
0.00001
|
|
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn)
|
rs397514957
|
0.00001
|
|
NM_000548.5(TSC2):c.711G>A (p.Pro237=)
|
rs189380607
|
0.00001
|
|
NM_000548.5(TSC2):c.72G>A (p.Pro24=)
|
rs754121475
|
0.00001
|
|
NM_000548.5(TSC2):c.739A>G (p.Ile247Val)
|
rs774526017
|
0.00001
|
|
NM_000548.5(TSC2):c.744C>T (p.Asn248=)
|
rs767565673
|
0.00001
|
|
NM_000548.5(TSC2):c.756C>G (p.Leu252=)
|
rs1026303888
|
0.00001
|
|
NM_000548.5(TSC2):c.774+3G>A
|
rs2151081990
|
0.00001
|
|
NM_000548.5(TSC2):c.774+4G>A
|
rs1244859914
|
0.00001
|
|
NM_000548.5(TSC2):c.775-12T>C
|
rs753920940
|
0.00001
|
|
NM_000548.5(TSC2):c.775-17C>T
|
rs137854299
|
0.00001
|
|
NM_000548.5(TSC2):c.775-5C>T
|
rs181827303
|
0.00001
|
|
NM_000548.5(TSC2):c.789C>T (p.Leu263=)
|
rs1478468856
|
0.00001
|
|
NM_000548.5(TSC2):c.813C>T (p.Ser271=)
|
rs752676212
|
0.00001
|
|
NM_000548.5(TSC2):c.816C>A (p.Ala272=)
|
rs917246659
|
0.00001
|
|
NM_000548.5(TSC2):c.822C>T (p.Tyr274=)
|
rs1347972318
|
0.00001
|
|
NM_000548.5(TSC2):c.837C>T (p.Leu279=)
|
rs746694709
|
0.00001
|
|
NM_000548.5(TSC2):c.849-4T>C
|
rs752614339
|
0.00001
|
|
NM_000548.5(TSC2):c.855C>T (p.Tyr285=)
|
rs794726983
|
0.00001
|
|
NM_000548.5(TSC2):c.867G>A (p.Ala289=)
|
rs375163125
|
0.00001
|
|
NM_000548.5(TSC2):c.871C>T (p.Leu291=)
|
rs45517137
|
0.00001
|
|
NM_000548.5(TSC2):c.874C>T (p.Leu292=)
|
rs1031153520
|
0.00001
|
|
NM_000548.5(TSC2):c.879A>G (p.Arg293=)
|
rs369222477
|
0.00001
|
|
NM_000548.5(TSC2):c.885C>T (p.Ala295=)
|
rs778296481
|
0.00001
|
|
NM_000548.5(TSC2):c.951A>G (p.Thr317=)
|
rs767275578
|
0.00001
|
|
NM_000548.5(TSC2):c.954T>A (p.Ser318=)
|
rs1328588034
|
0.00001
|
|
NM_000548.5(TSC2):c.978C>G (p.Ala326=)
|
rs1294670888
|
0.00001
|
|
NM_000548.5(TSC2):c.994G>A (p.Glu332Lys)
|
rs911600402
|
0.00001
|
|
NM_000551.4(VHL):c.*7C>A
|
rs778005138
|
0.00001
|
|
NM_000551.4(VHL):c.105C>G (p.Ala35=)
|
rs1310829877
|
0.00001
|
|
NM_000551.4(VHL):c.12G>A (p.Arg4=)
|
rs1553619274
|
0.00001
|
|
NM_000551.4(VHL):c.141A>G (p.Glu47=)
|
rs1353920298
|
0.00001
|
|
NM_000551.4(VHL):c.165G>A (p.Glu55=)
|
rs1553619391
|
0.00001
|
|
NM_000551.4(VHL):c.171G>A (p.Gly57=)
|
rs750103719
|
0.00001
|
|
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
0.00001
|
|
NM_000551.4(VHL):c.192C>T (p.Arg64=)
|
rs1012545817
|
0.00001
|
|
NM_000551.4(VHL):c.1A>T (p.Met1Leu)
|
rs1060503557
|
0.00001
|
|
NM_000551.4(VHL):c.216C>T (p.Ser72=)
|
rs774557051
|
0.00001
|
|
NM_000551.4(VHL):c.222C>G (p.Val74=)
|
rs759737367
|
0.00001
|
|
NM_000551.4(VHL):c.249C>G (p.Val83=)
|
rs1271292937
|
0.00001
|
|
NM_000551.4(VHL):c.252G>C (p.Val84=)
|
rs1436342215
|
0.00001
|
|
NM_000551.4(VHL):c.255G>A (p.Leu85=)
|
rs876658508
|
0.00001
|
|
NM_000551.4(VHL):c.258C>G (p.Pro86=)
|
rs781063331
|
0.00001
|
|
NM_000551.4(VHL):c.261A>G (p.Val87=)
|
rs1386184754
|
0.00001
|
|
NM_000551.4(VHL):c.291C>G (p.Pro97=)
|
rs1805159
|
0.00001
|
|
NM_000551.4(VHL):c.385C>T (p.Leu129=)
|
rs369018004
|
0.00001
|
|
NM_000551.4(VHL):c.387G>T (p.Leu129=)
|
rs778846471
|
0.00001
|
|
NM_000551.4(VHL):c.39A>G (p.Val13=)
|
rs996469746
|
0.00001
|
|
NM_000551.4(VHL):c.417T>G (p.Ser139=)
|
rs1406004337
|
0.00001
|
|
NM_000551.4(VHL):c.471T>C (p.Thr157=)
|
rs1252473811
|
0.00001
|
|
NM_000551.4(VHL):c.507A>C (p.Leu169=)
|
rs878854126
|
0.00001
|
|
NM_000551.4(VHL):c.510C>A (p.Val170=)
|
rs765224880
|
0.00001
|
|
NM_000551.4(VHL):c.540C>T (p.Ile180=)
|
rs374927292
|
0.00001
|
|
NM_000551.4(VHL):c.561T>C (p.Asp187=)
|
rs370769257
|
0.00001
|
|
NM_000551.4(VHL):c.612G>A (p.Glu204=)
|
rs747805018
|
0.00001
|
|
NM_000551.4(VHL):c.93G>C (p.Glu31Asp)
|
rs1438911242
|
0.00001
|
|
NM_000551.4(VHL):c.99G>C (p.Ser33=)
|
rs912159589
|
0.00001
|
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
|
NM_000709.4(BCKDHA):c.647-1G>C
|
rs753216964
|
0.00001
|
|
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)
|
rs137852875
|
0.00001
|
|
NM_001039958.2(MESP2):c.921C>G (p.Tyr307Ter)
|
rs766664800
|
0.00001
|
|
NM_001040108.2(MLH3):c.1021del (p.Gln341fs)
|
rs879779919
|
0.00001
|
|
NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp)
|
rs750592289
|
0.00001
|
|
NM_001048174.2(MUTYH):c.559G>A (p.Val187Met)
|
rs776487884
|
0.00001
|
|
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu)
|
rs768553551
|
0.00001
|
|
NM_001079866.2(BCS1L):c.134G>A (p.Arg45His)
|
rs754414354
|
0.00001
|
|
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro)
|
rs751161742
|
0.00001
|
|
NM_001083116.3(PRF1):c.949G>A (p.Gly317Arg)
|
rs766783280
|
0.00001
|
|
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
|
rs576130413
|
0.00001
|
|
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)
|
rs757820496
|
0.00001
|
|
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)
|
rs863225135
|
0.00001
|
|
NM_001142800.2(EYS):c.5644+5G>A
|
rs794727412
|
0.00001
|
|
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)
|
rs373203896
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)
|
rs193302880
|
0.00001
|
|
NM_001164508.2(NEB):c.18891+1G>A
|
rs1443738549
|
0.00001
|
|
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter)
|
rs1555145605
|
0.00001
|
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
|
NM_001370259.2(MEN1):c.1020C>A (p.Ala340=)
|
rs1060503796
|
0.00001
|
|
NM_001370259.2(MEN1):c.1026G>A (p.Ala342=)
|
rs878855184
|
0.00001
|
|
NM_001370259.2(MEN1):c.1128G>A (p.Leu376=)
|
rs754129242
|
0.00001
|
|
NM_001370259.2(MEN1):c.114C>G (p.Ser38=)
|
rs1252317486
|
0.00001
|
|
NM_001370259.2(MEN1):c.1186-6G>A
|
rs576193460
|
0.00001
|
|
NM_001370259.2(MEN1):c.121C>T (p.Leu41=)
|
rs1441672096
|
0.00001
|
|
NM_001370259.2(MEN1):c.1230C>T (p.Phe410=)
|
rs878855188
|
0.00001
|
|
NM_001370259.2(MEN1):c.1275G>A (p.Glu425=)
|
rs1236745071
|
0.00001
|
|
NM_001370259.2(MEN1):c.1287G>A (p.Thr429=)
|
rs376598079
|
0.00001
|
|
NM_001370259.2(MEN1):c.1314C>G (p.Thr438=)
|
rs897481809
|
0.00001
|
|
NM_001370259.2(MEN1):c.1395C>T (p.Ala465=)
|
rs748820252
|
0.00001
|
|
NM_001370259.2(MEN1):c.1404G>A (p.Glu468=)
|
rs755734265
|
0.00001
|
|
NM_001370259.2(MEN1):c.1428G>C (p.Arg476=)
|
rs1555163730
|
0.00001
|
|
NM_001370259.2(MEN1):c.1458G>A (p.Glu486=)
|
rs1413990417
|
0.00001
|
|
NM_001370259.2(MEN1):c.1467A>G (p.Pro489=)
|
rs1592632826
|
0.00001
|
|
NM_001370259.2(MEN1):c.1482G>A (p.Pro494=)
|
rs773363654
|
0.00001
|
|
NM_001370259.2(MEN1):c.1497A>G (p.Ala499=)
|
rs1057121245
|
0.00001
|
|
NM_001370259.2(MEN1):c.1578C>A (p.Ala526=)
|
rs767655504
|
0.00001
|
|
NM_001370259.2(MEN1):c.1608G>A (p.Gln536=)
|
rs1055457298
|
0.00001
|
|
NM_001370259.2(MEN1):c.1635G>A (p.Pro545=)
|
rs1349729840
|
0.00001
|
|
NM_001370259.2(MEN1):c.1701C>T (p.Ala567=)
|
rs757417271
|
0.00001
|
|
NM_001370259.2(MEN1):c.1740G>A (p.Thr580=)
|
rs1114167530
|
0.00001
|
|
NM_001370259.2(MEN1):c.1758G>A (p.Gln586=)
|
rs759563305
|
0.00001
|
|
NM_001370259.2(MEN1):c.1779C>T (p.Ser593=)
|
rs1157546350
|
0.00001
|
|
NM_001370259.2(MEN1):c.177C>G (p.Pro59=)
|
rs749001511
|
0.00001
|
|
NM_001370259.2(MEN1):c.219C>T (p.Gly73=)
|
rs758434243
|
0.00001
|
|
NM_001370259.2(MEN1):c.21G>A (p.Gln7=)
|
rs1422628649
|
0.00001
|
|
NM_001370259.2(MEN1):c.249G>T (p.Leu83=)
|
rs386134252
|
0.00001
|
|
NM_001370259.2(MEN1):c.252T>C (p.Ser84=)
|
rs1592658989
|
0.00001
|
|
NM_001370259.2(MEN1):c.258C>T (p.Ile86=)
|
rs759731868
|
0.00001
|
|
NM_001370259.2(MEN1):c.300C>G (p.Ala100=)
|
rs773136972
|
0.00001
|
|
NM_001370259.2(MEN1):c.303C>T (p.Val101=)
|
rs1463347315
|
0.00001
|
|
NM_001370259.2(MEN1):c.336C>G (p.Val112=)
|
rs1200092213
|
0.00001
|
|
NM_001370259.2(MEN1):c.345T>C (p.Arg115=)
|
rs748948131
|
0.00001
|
|
NM_001370259.2(MEN1):c.366C>T (p.Ser122=)
|
rs1592658043
|
0.00001
|
|
NM_001370259.2(MEN1):c.387C>G (p.Leu129=)
|
rs1257890690
|
0.00001
|
|
NM_001370259.2(MEN1):c.396C>T (p.Ser132=)
|
rs896947172
|
0.00001
|
|
NM_001370259.2(MEN1):c.465C>T (p.Ser155=)
|
rs936786553
|
0.00001
|
|
NM_001370259.2(MEN1):c.474C>T (p.Ala158=)
|
rs772526802
|
0.00001
|
|
NM_001370259.2(MEN1):c.480T>C (p.Ala160=)
|
rs2136157794
|
0.00001
|
|
NM_001370259.2(MEN1):c.48C>T (p.Ile16=)
|
rs1060503797
|
0.00001
|
|
NM_001370259.2(MEN1):c.522C>T (p.His174=)
|
rs751487458
|
0.00001
|
|
NM_001370259.2(MEN1):c.609C>T (p.Asn203=)
|
rs749844029
|
0.00001
|
|
NM_001370259.2(MEN1):c.621G>A (p.Arg207=)
|
rs779966911
|
0.00001
|
|
NM_001370259.2(MEN1):c.681C>T (p.Tyr227=)
|
rs778921501
|
0.00001
|
|
NM_001370259.2(MEN1):c.696C>T (p.Arg232=)
|
rs753411991
|
0.00001
|
|
NM_001370259.2(MEN1):c.711G>A (p.Ala237=)
|
rs144677807
|
0.00001
|
|
NM_001370259.2(MEN1):c.726C>T (p.Ala242=)
|
rs1198651608
|
0.00001
|
|
NM_001370259.2(MEN1):c.729C>T (p.Ile243=)
|
rs1353237754
|
0.00001
|
|
NM_001370259.2(MEN1):c.801C>G (p.Leu267=)
|
rs760850856
|
0.00001
|
|
NM_001370259.2(MEN1):c.828C>T (p.Tyr276=)
|
rs1060503789
|
0.00001
|
|
NM_001370259.2(MEN1):c.849G>A (p.Leu283=)
|
rs1592646641
|
0.00001
|
|
NM_001370259.2(MEN1):c.909C>T (p.His303=)
|
rs878855200
|
0.00001
|
|
NM_001370259.2(MEN1):c.936C>T (p.Tyr312=)
|
rs386134260
|
0.00001
|
|
NM_001370259.2(MEN1):c.984C>T (p.His328=)
|
rs757323408
|
0.00001
|
|
NM_001370259.2(MEN1):c.999T>C (p.Asn333=)
|
rs763133775
|
0.00001
|
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
|
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)
|
rs749460715
|
0.00001
|
|
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)
|
rs1671237172
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)
|
rs1598914701
|
0.00001
|
|
NM_001386140.1(MTTP):c.1867+5G>A
|
rs1429774833
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)
|
rs121964880
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.988G>A (p.Glu330Lys)
|
rs781800676
|
0.00001
|
|
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter)
|
rs1251623714
|
0.00001
|
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
|
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys)
|
rs767905306
|
0.00001
|
|
NM_001876.4(CPT1A):c.740C>T (p.Pro247Leu)
|
rs763570668
|
0.00001
|
|
NM_001953.5(TYMP):c.1300+1G>A
|
rs1064792878
|
0.00001
|
|
NM_002439.5(MSH3):c.2179C>T (p.Arg727Ter)
|
rs376667075
|
0.00001
|
|
NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter)
|
rs1580035037
|
0.00001
|
|
NM_002439.5(MSH3):c.2319-1G>A
|
rs866260675
|
0.00001
|
|
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter)
|
rs2084372140
|
0.00001
|
|
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)
|
rs374489979
|
0.00001
|
|
NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)
|
rs1198246754
|
0.00001
|
|
NM_002528.7(NTHL1):c.685+1G>A
|
rs372946560
|
0.00001
|
|
NM_002528.7(NTHL1):c.800G>A (p.Trp267Ter)
|
rs1176002553
|
0.00001
|
|
NM_002691.4(POLD1):c.1011C>T (p.Ile337=)
|
rs1220975957
|
0.00001
|
|
NM_002691.4(POLD1):c.1029C>T (p.Arg343=)
|
rs759213871
|
0.00001
|
|
NM_002691.4(POLD1):c.1132C>T (p.Leu378=)
|
rs771705455
|
0.00001
|
|
NM_002691.4(POLD1):c.1170C>T (p.Pro390=)
|
rs753635334
|
0.00001
|
|
NM_002691.4(POLD1):c.1200C>T (p.Asn400=)
|
rs541753103
|
0.00001
|
|
NM_002691.4(POLD1):c.1230C>T (p.Ala410=)
|
rs1198011574
|
0.00001
|
|
NM_002691.4(POLD1):c.1281T>G (p.Leu427=)
|
rs754552596
|
0.00001
|
|
NM_002691.4(POLD1):c.1290C>T (p.Asn430=)
|
rs1060504348
|
0.00001
|
|
NM_002691.4(POLD1):c.1323G>C (p.Thr441=)
|
rs768901366
|
0.00001
|
|
NM_002691.4(POLD1):c.1338C>A (p.Thr446=)
|
rs1057521359
|
0.00001
|
|
NM_002691.4(POLD1):c.1389G>C (p.Leu463=)
|
rs1368969207
|
0.00001
|
|
NM_002691.4(POLD1):c.1404G>A (p.Lys468=)
|
rs2122326348
|
0.00001
|
|
NM_002691.4(POLD1):c.1428C>T (p.Ala476=)
|
rs761526047
|
0.00001
|
|
NM_002691.4(POLD1):c.1434C>T (p.Ser478=)
|
rs1199543659
|
0.00001
|
|
NM_002691.4(POLD1):c.1440C>T (p.His480=)
|
rs751922673
|
0.00001
|
|
NM_002691.4(POLD1):c.1476C>T (p.Ser492=)
|
rs1568626807
|
0.00001
|
|
NM_002691.4(POLD1):c.1494+3G>A
|
rs749556778
|
0.00001
|
|
NM_002691.4(POLD1):c.1521C>T (p.Arg507=)
|
rs1183909229
|
0.00001
|
|
NM_002691.4(POLD1):c.1527T>A (p.Ala509=)
|
rs1229053013
|
0.00001
|
|
NM_002691.4(POLD1):c.1542G>A (p.Lys514=)
|
rs779864085
|
0.00001
|
|
NM_002691.4(POLD1):c.1551C>T (p.Tyr517=)
|
rs769426460
|
0.00001
|
|
NM_002691.4(POLD1):c.1560G>A (p.Leu520=)
|
rs200345841
|
0.00001
|
|
NM_002691.4(POLD1):c.1590G>A (p.Val530=)
|
rs1485581703
|
0.00001
|
|
NM_002691.4(POLD1):c.1617T>C (p.Thr539=)
|
rs781343915
|
0.00001
|
|
NM_002691.4(POLD1):c.1623G>C (p.Val541=)
|
rs1451482701
|
0.00001
|
|
NM_002691.4(POLD1):c.1635C>T (p.Tyr545=)
|
rs1057522415
|
0.00001
|
|
NM_002691.4(POLD1):c.1636C>T (p.Leu546=)
|
rs1263352176
|
0.00001
|
|
NM_002691.4(POLD1):c.1638G>A (p.Leu546=)
|
rs748925155
|
0.00001
|
|
NM_002691.4(POLD1):c.1641C>T (p.Leu547=)
|
rs770573148
|
0.00001
|
|
NM_002691.4(POLD1):c.1650C>G (p.Gly550=)
|
rs1347433333
|
0.00001
|
|
NM_002691.4(POLD1):c.1681C>A (p.Arg561=)
|
rs368738479
|
0.00001
|
|
NM_002691.4(POLD1):c.867C>T (p.Asp289=)
|
rs893257425
|
0.00001
|
|
NM_002691.4(POLD1):c.882C>T (p.Asp294=)
|
rs773148463
|
0.00001
|
|
NM_002691.4(POLD1):c.894C>T (p.His298=)
|
rs1442547881
|
0.00001
|
|
NM_002691.4(POLD1):c.897A>G (p.Pro299=)
|
rs1601202571
|
0.00001
|
|
NM_002691.4(POLD1):c.933C>T (p.Arg311=)
|
rs749278926
|
0.00001
|
|
NM_002691.4(POLD1):c.960C>T (p.Ala320=)
|
rs761783513
|
0.00001
|
|
NM_002691.4(POLD1):c.966C>A (p.Arg322=)
|
rs927325156
|
0.00001
|
|
NM_002693.3(POLG):c.163C>T (p.Gln55Ter)
|
rs2055626123
|
0.00001
|
|
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln)
|
rs1001570418
|
0.00001
|
|
NM_002878.4(RAD51D):c.108G>A (p.Leu36=)
|
rs755962971
|
0.00001
|
|
NM_002878.4(RAD51D):c.117A>T (p.Val39=)
|
rs876660008
|
0.00001
|
|
NM_002878.4(RAD51D):c.126A>G (p.Lys42=)
|
rs145361433
|
0.00001
|
|
NM_002878.4(RAD51D):c.12C>G (p.Leu4=)
|
rs786203193
|
0.00001
|
|
NM_002878.4(RAD51D):c.132C>T (p.Gly44=)
|
rs761651126
|
0.00001
|
|
NM_002878.4(RAD51D):c.157C>T (p.Leu53=)
|
rs2091778688
|
0.00001
|
|
NM_002878.4(RAD51D):c.186G>A (p.Ser62=)
|
rs746984258
|
0.00001
|
|
NM_002878.4(RAD51D):c.213C>T (p.Leu71=)
|
rs745546403
|
0.00001
|
|
NM_002878.4(RAD51D):c.22C>T (p.Leu8=)
|
rs876659203
|
0.00001
|
|
NM_002878.4(RAD51D):c.255C>T (p.Gly85=)
|
rs750714062
|
0.00001
|
|
NM_002878.4(RAD51D):c.276G>C (p.Leu92=)
|
rs1057522424
|
0.00001
|
|
NM_002878.4(RAD51D):c.27C>T (p.Cys9=)
|
rs200487648
|
0.00001
|
|
NM_002878.4(RAD51D):c.324C>T (p.Gly108=)
|
rs758132417
|
0.00001
|
|
NM_002878.4(RAD51D):c.333C>T (p.Ser111=)
|
rs369396909
|
0.00001
|
|
NM_002878.4(RAD51D):c.382C>T (p.Leu128=)
|
rs1438461174
|
0.00001
|
|
NM_002878.4(RAD51D):c.384G>A (p.Leu128=)
|
rs1393403501
|
0.00001
|
|
NM_002878.4(RAD51D):c.399A>G (p.Leu133=)
|
rs774111609
|
0.00001
|
|
NM_002878.4(RAD51D):c.456T>C (p.Ala152=)
|
rs921214343
|
0.00001
|
|
NM_002878.4(RAD51D):c.462C>G (p.Thr154=)
|
rs2091612775
|
0.00001
|
|
NM_002878.4(RAD51D):c.510G>A (p.Val170=)
|
rs142134504
|
0.00001
|
|
NM_002878.4(RAD51D):c.567G>A (p.Val189=)
|
rs373975416
|
0.00001
|
|
NM_002878.4(RAD51D):c.573G>A (p.Gln191=)
|
rs1597861626
|
0.00001
|
|
NM_002878.4(RAD51D):c.607G>A (p.Val203Met)
|
rs730881947
|
0.00001
|
|
NM_002878.4(RAD51D):c.621G>A (p.Ser207=)
|
rs749859221
|
0.00001
|
|
NM_002878.4(RAD51D):c.621G>T (p.Ser207=)
|
rs749859221
|
0.00001
|
|
NM_002878.4(RAD51D):c.624C>T (p.Val208=)
|
rs1597858797
|
0.00001
|
|
NM_002878.4(RAD51D):c.630G>A (p.Ala210=)
|
rs762585552
|
0.00001
|
|
NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter)
|
rs775365939
|
0.00001
|
|
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter)
|
rs771007945
|
0.00001
|
|
NM_002878.4(RAD51D):c.669C>G (p.Gly223=)
|
rs1567726315
|
0.00001
|
|
NM_002878.4(RAD51D):c.739-3C>T
|
rs1235042092
|
0.00001
|
|
NM_002878.4(RAD51D):c.75C>T (p.Ile25=)
|
rs1555570482
|
0.00001
|
|
NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter)
|
rs750219200
|
0.00001
|
|
NM_002878.4(RAD51D):c.816C>T (p.Pro272=)
|
rs565863781
|
0.00001
|
|
NM_002878.4(RAD51D):c.840C>T (p.Thr280=)
|
rs751885496
|
0.00001
|
|
NM_002878.4(RAD51D):c.843C>T (p.Ile281=)
|
rs754455433
|
0.00001
|
|
NM_002878.4(RAD51D):c.84G>A (p.Val28=)
|
rs757325572
|
0.00001
|
|
NM_002878.4(RAD51D):c.900A>G (p.Arg300=)
|
rs370634278
|
0.00001
|
|
NM_002878.4(RAD51D):c.90C>T (p.Asp30=)
|
rs374725981
|
0.00001
|
|
NM_002878.4(RAD51D):c.939C>G (p.Thr313=)
|
rs374318553
|
0.00001
|
|
NM_002878.4(RAD51D):c.93G>C (p.Leu31=)
|
rs779637010
|
0.00001
|
|
NM_002878.4(RAD51D):c.945G>A (p.Gly315=)
|
rs142316409
|
0.00001
|
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
|
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)
|
rs778952116
|
0.00001
|
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
|
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)
|
rs138996609
|
0.00001
|
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
|
NM_003000.3(SDHB):c.700C>T (p.Leu234=)
|
rs201728852
|
0.00001
|
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
|
NM_003060.4(SLC22A5):c.825-1G>C
|
rs1057516805
|
0.00001
|
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
|
NM_004168.4(SDHA):c.1182C>T (p.Asp394=)
|
rs377317558
|
0.00001
|
|
NM_004168.4(SDHA):c.1323C>T (p.Ala441=)
|
rs751561561
|
0.00001
|
|
NM_004168.4(SDHA):c.1338del (p.His447fs)
|
rs1735791499
|
0.00001
|
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
|
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
|
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)
|
rs553257776
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1017C>G (p.Ala339=)
|
rs780130011
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1053C>T (p.Gly351=)
|
rs1554891081
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1081C>G (p.Arg361Gly)
|
rs764466442
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1089A>G (p.Leu363=)
|
rs863224393
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1101C>T (p.Asn367=)
|
rs863224394
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1104C>T (p.Ile368=)
|
rs1060504911
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1146C>A (p.Gly382=)
|
rs786203626
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1152T>C (p.Ala384=)
|
rs1057520795
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1173A>T (p.Thr391=)
|
rs766032673
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1191C>G (p.Pro397=)
|
rs751078831
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1206G>A (p.Val402=)
|
rs1843665394
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1242C>T (p.Asp414=)
|
rs767296986
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1266C>T (p.Phe422=)
|
rs786202823
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1296C>T (p.Ser432=)
|
rs1060504907
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1311T>C (p.Ile437=)
|
rs541331090
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1323T>C (p.Ala441=)
|
rs2133608618
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1335C>T (p.Ile445=)
|
rs1218546341
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1344G>A (p.Gly448=)
|
rs1589293406
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1347C>T (p.Ile449=)
|
rs1057520966
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1359C>T (p.Tyr453=)
|
rs876660878
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1362A>G (p.Gln454=)
|
rs764090248
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1371T>C (p.Tyr457=)
|
rs1484956301
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1398A>C (p.Ser466=)
|
rs56410735
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1422G>A (p.Val474=)
|
rs760220938
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1479A>G (p.Leu493=)
|
rs1554891640
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1536C>T (p.Leu512=)
|
rs758796892
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1543T>C (p.Leu515=)
|
rs746700427
|
0.00001
|
|
NM_004329.3(BMPR1A):c.189C>T (p.Cys63=)
|
rs1413243663
|
0.00001
|
|
NM_004329.3(BMPR1A):c.213T>C (p.Ala71=)
|
rs1554888138
|
0.00001
|
|
NM_004329.3(BMPR1A):c.225A>G (p.Thr75=)
|
rs1414026379
|
0.00001
|
|
NM_004329.3(BMPR1A):c.276A>G (p.Gly92=)
|
rs1564715466
|
0.00001
|
|
NM_004329.3(BMPR1A):c.285A>G (p.Thr95=)
|
rs1473234057
|
0.00001
|
|
NM_004329.3(BMPR1A):c.357C>G (p.Arg119=)
|
rs757950894
|
0.00001
|
|
NM_004329.3(BMPR1A):c.360G>T (p.Arg120=)
|
rs1554888968
|
0.00001
|
|
NM_004329.3(BMPR1A):c.372T>C (p.Cys124=)
|
rs755028781
|
0.00001
|
|
NM_004329.3(BMPR1A):c.384T>C (p.Asn128=)
|
rs2133454210
|
0.00001
|
|
NM_004329.3(BMPR1A):c.411A>G (p.Thr137=)
|
rs777389675
|
0.00001
|
|
NM_004329.3(BMPR1A):c.471C>T (p.Leu157=)
|
rs1060504903
|
0.00001
|
|
NM_004329.3(BMPR1A):c.474T>C (p.Ile158=)
|
rs759223499
|
0.00001
|
|
NM_004329.3(BMPR1A):c.516C>T (p.Ser172=)
|
rs1391614707
|
0.00001
|
|
NM_004329.3(BMPR1A):c.558A>G (p.Arg186=)
|
rs752388441
|
0.00001
|
|
NM_004329.3(BMPR1A):c.594A>G (p.Ala198=)
|
rs369860867
|
0.00001
|
|
NM_004329.3(BMPR1A):c.60T>C (p.Arg20=)
|
rs780704079
|
0.00001
|
|
NM_004329.3(BMPR1A):c.666A>G (p.Leu222=)
|
rs1843504404
|
0.00001
|
|
NM_004329.3(BMPR1A):c.676-3A>C
|
rs587782760
|
0.00001
|
|
NM_004329.3(BMPR1A):c.682C>A (p.Arg228=)
|
rs587782682
|
0.00001
|
|
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln)
|
rs191742018
|
0.00001
|
|
NM_004329.3(BMPR1A):c.732A>G (p.Arg244=)
|
rs1554890761
|
0.00001
|
|
NM_004329.3(BMPR1A):c.774G>A (p.Val258=)
|
rs540411494
|
0.00001
|
|
NM_004329.3(BMPR1A):c.786A>G (p.Val262=)
|
rs745728681
|
0.00001
|
|
NM_004329.3(BMPR1A):c.789C>T (p.Phe263=)
|
rs771932684
|
0.00001
|
|
NM_004329.3(BMPR1A):c.798T>C (p.Thr266=)
|
rs1439711488
|
0.00001
|
|
NM_004329.3(BMPR1A):c.825A>C (p.Thr275=)
|
rs1345972234
|
0.00001
|
|
NM_004329.3(BMPR1A):c.840T>C (p.Thr280=)
|
rs1032369061
|
0.00001
|
|
NM_004329.3(BMPR1A):c.868+9A>G
|
rs766298777
|
0.00001
|
|
NM_004329.3(BMPR1A):c.869-4A>C
|
rs964020576
|
0.00001
|
|
NM_004329.3(BMPR1A):c.897A>T (p.Thr299=)
|
rs1057521188
|
0.00001
|
|
NM_004329.3(BMPR1A):c.927T>C (p.Thr309=)
|
rs779691540
|
0.00001
|
|
NM_004329.3(BMPR1A):c.972T>C (p.Ala324=)
|
rs1301330096
|
0.00001
|
|
NM_004329.3(BMPR1A):c.975A>G (p.Thr325=)
|
rs974541270
|
0.00001
|
|
NM_004329.3(BMPR1A):c.990C>T (p.Ala330=)
|
rs199808362
|
0.00001
|
|
NM_004360.5(CDH1):c.1009-14C>T
|
rs368293695
|
0.00001
|
|
NM_004360.5(CDH1):c.1023T>C (p.Tyr341=)
|
rs587776398
|
0.00001
|
|
NM_004360.5(CDH1):c.1047C>T (p.Asp349=)
|
rs929343982
|
0.00001
|
|
NM_004360.5(CDH1):c.1063T>C (p.Leu355=)
|
rs750470983
|
0.00001
|
|
NM_004360.5(CDH1):c.1083T>C (p.Ala361=)
|
rs1057521835
|
0.00001
|
|
NM_004360.5(CDH1):c.111C>T (p.Tyr37=)
|
rs876660002
|
0.00001
|
|
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met)
|
rs587782856
|
0.00001
|
|
NM_004360.5(CDH1):c.1138-10T>C
|
rs758324153
|
0.00001
|
|
NM_004360.5(CDH1):c.114G>C (p.Thr38=)
|
rs786201492
|
0.00001
|
|
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)
|
rs372838203
|
0.00001
|
|
NM_004360.5(CDH1):c.1164G>A (p.Glu388=)
|
rs774875972
|
0.00001
|
|
NM_004360.5(CDH1):c.1209C>G (p.Ala403=)
|
rs982151802
|
0.00001
|
|
NM_004360.5(CDH1):c.1233T>C (p.Ala411=)
|
rs779630879
|
0.00001
|
|
NM_004360.5(CDH1):c.1242C>T (p.Thr414=)
|
rs779601817
|
0.00001
|
|
NM_004360.5(CDH1):c.1246T>C (p.Leu416=)
|
rs1459059254
|
0.00001
|
|
NM_004360.5(CDH1):c.1266A>G (p.Gln422=)
|
rs776805501
|
0.00001
|
|
NM_004360.5(CDH1):c.1323C>A (p.Gly441=)
|
rs763647680
|
0.00001
|
|
NM_004360.5(CDH1):c.136C>T (p.Leu46=)
|
rs1410833063
|
0.00001
|
|
NM_004360.5(CDH1):c.1383T>A (p.Pro461=)
|
rs1238176229
|
0.00001
|
|
NM_004360.5(CDH1):c.1416C>T (p.Thr472=)
|
rs139937234
|
0.00001
|
|
NM_004360.5(CDH1):c.1446A>T (p.Glu482Asp)
|
rs863224724
|
0.00001
|
|
NM_004360.5(CDH1):c.147C>T (p.Gly49=)
|
rs1057521592
|
0.00001
|
|
NM_004360.5(CDH1):c.1500C>T (p.Gly500=)
|
rs781317341
|
0.00001
|
|
NM_004360.5(CDH1):c.1503G>A (p.Val501=)
|
rs775290153
|
0.00001
|
|
NM_004360.5(CDH1):c.150C>A (p.Arg50=)
|
rs786201262
|
0.00001
|
|
NM_004360.5(CDH1):c.1565C>T (p.Thr522Ile)
|
rs863224725
|
0.00001
|
|
NM_004360.5(CDH1):c.1569T>C (p.Tyr523=)
|
rs876659716
|
0.00001
|
|
NM_004360.5(CDH1):c.156G>A (p.Leu52=)
|
rs748336113
|
0.00001
|
|
NM_004360.5(CDH1):c.1587T>C (p.Thr529=)
|
rs200399144
|
0.00001
|
|
NM_004360.5(CDH1):c.15C>T (p.Ser5=)
|
rs786201287
|
0.00001
|
|
NM_004360.5(CDH1):c.1611G>A (p.Pro537=)
|
rs1060504173
|
0.00001
|
|
NM_004360.5(CDH1):c.1617T>C (p.Thr539=)
|
rs1596960438
|
0.00001
|
|
NM_004360.5(CDH1):c.1623C>T (p.Ala541=)
|
rs376662384
|
0.00001
|
|
NM_004360.5(CDH1):c.1629C>T (p.Ser543=)
|
rs1596960459
|
0.00001
|
|
NM_004360.5(CDH1):c.1711+6G>T
|
rs1555516597
|
0.00001
|
|
NM_004360.5(CDH1):c.172G>A (p.Glu58Lys)
|
rs1060501234
|
0.00001
|
|
NM_004360.5(CDH1):c.1767T>C (p.Asn589=)
|
rs763862527
|
0.00001
|
|
NM_004360.5(CDH1):c.1773C>T (p.Asn591=)
|
rs373719554
|
0.00001
|
|
NM_004360.5(CDH1):c.1797T>C (p.Thr599=)
|
rs786201932
|
0.00001
|
|
NM_004360.5(CDH1):c.1833C>T (p.Val611=)
|
rs748413209
|
0.00001
|
|
NM_004360.5(CDH1):c.1842C>T (p.Ile614=)
|
rs773368593
|
0.00001
|
|
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val)
|
rs1003012321
|
0.00001
|
|
NM_004360.5(CDH1):c.1848T>C (p.Asp616=)
|
rs189334685
|
0.00001
|
|
NM_004360.5(CDH1):c.1866T>C (p.Asn622=)
|
rs786201678
|
0.00001
|
|
NM_004360.5(CDH1):c.1890A>C (p.Leu630=)
|
rs1178759799
|
0.00001
|
|
NM_004360.5(CDH1):c.1893A>C (p.Thr631=)
|
rs786201452
|
0.00001
|
|
NM_004360.5(CDH1):c.1902G>A (p.Ala634=)
|
rs754404223
|
0.00001
|
|
NM_004360.5(CDH1):c.1929C>T (p.Asn643=)
|
rs374152504
|
0.00001
|
|
NM_004360.5(CDH1):c.1944A>G (p.Glu648=)
|
rs1596965497
|
0.00001
|
|
NM_004360.5(CDH1):c.1971C>T (p.Ala657=)
|
rs1567513183
|
0.00001
|
|
NM_004360.5(CDH1):c.1977G>A (p.Glu659=)
|
rs368243190
|
0.00001
|
|
NM_004360.5(CDH1):c.2026G>A (p.Asp676Asn)
|
rs115408226
|
0.00001
|
|
NM_004360.5(CDH1):c.2046G>A (p.Glu682=)
|
rs753209043
|
0.00001
|
|
NM_004360.5(CDH1):c.2073C>T (p.Ala691=)
|
rs536104508
|
0.00001
|
|
NM_004360.5(CDH1):c.2079C>T (p.Gly693=)
|
rs771993728
|
0.00001
|
|
NM_004360.5(CDH1):c.2091G>A (p.Lys697=)
|
rs61747635
|
0.00001
|
|
NM_004360.5(CDH1):c.2115G>A (p.Leu705=)
|
rs759256066
|
0.00001
|
|
NM_004360.5(CDH1):c.2121T>C (p.Ile707=)
|
rs764657974
|
0.00001
|
|
NM_004360.5(CDH1):c.2154T>G (p.Leu718=)
|
rs1445172318
|
0.00001
|
|
NM_004360.5(CDH1):c.2167C>T (p.Leu723=)
|
rs142649208
|
0.00001
|
|
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp)
|
rs864622198
|
0.00001
|
|
NM_004360.5(CDH1):c.2220C>G (p.Pro740=)
|
rs1961376847
|
0.00001
|
|
NM_004360.5(CDH1):c.2221T>C (p.Leu741=)
|
rs772531531
|
0.00001
|
|
NM_004360.5(CDH1):c.2226G>A (p.Leu742=)
|
rs563767422
|
0.00001
|
|
NM_004360.5(CDH1):c.2235G>A (p.Glu745=)
|
rs1267384637
|
0.00001
|
|
NM_004360.5(CDH1):c.2316G>T (p.Leu772=)
|
rs1057523941
|
0.00001
|
|
NM_004360.5(CDH1):c.2318A>G (p.His773Arg)
|
rs587782823
|
0.00001
|
|
NM_004360.5(CDH1):c.2322G>A (p.Arg774=)
|
rs150734856
|
0.00001
|
|
NM_004360.5(CDH1):c.2325C>T (p.Gly775=)
|
rs970542777
|
0.00001
|
|
NM_004360.5(CDH1):c.2328G>A (p.Leu776=)
|
rs1302712373
|
0.00001
|
|
NM_004360.5(CDH1):c.2358C>T (p.Asp786=)
|
rs760701558
|
0.00001
|
|
NM_004360.5(CDH1):c.2361T>C (p.Val787=)
|
rs1555517864
|
0.00001
|
|
NM_004360.5(CDH1):c.2364A>G (p.Ala788=)
|
rs1555517873
|
0.00001
|
|
NM_004360.5(CDH1):c.2382C>A (p.Val794=)
|
rs786203579
|
0.00001
|
|
NM_004360.5(CDH1):c.2421T>C (p.Ile807=)
|
rs761852331
|
0.00001
|
|
NM_004360.5(CDH1):c.2436T>C (p.Asp812=)
|
rs1052245560
|
0.00001
|
|
NM_004360.5(CDH1):c.243T>C (p.Gly81=)
|
rs765879351
|
0.00001
|
|
NM_004360.5(CDH1):c.2440-3T>C
|
rs1360371971
|
0.00001
|
|
NM_004360.5(CDH1):c.24C>G (p.Leu8=)
|
rs1057521296
|
0.00001
|
|
NM_004360.5(CDH1):c.2505T>C (p.Tyr835=)
|
rs786202613
|
0.00001
|
|
NM_004360.5(CDH1):c.2542C>T (p.Leu848=)
|
rs1567517746
|
0.00001
|
|
NM_004360.5(CDH1):c.2577T>C (p.Tyr859=)
|
rs765545887
|
0.00001
|
|
NM_004360.5(CDH1):c.270G>A (p.Arg90=)
|
rs777822181
|
0.00001
|
|
NM_004360.5(CDH1):c.270G>C (p.Arg90=)
|
rs777822181
|
0.00001
|
|
NM_004360.5(CDH1):c.27G>A (p.Ser9=)
|
rs786201257
|
0.00001
|
|
NM_004360.5(CDH1):c.286A>G (p.Ile96Val)
|
rs749306433
|
0.00001
|
|
NM_004360.5(CDH1):c.342C>T (p.Val114=)
|
rs1555514470
|
0.00001
|
|
NM_004360.5(CDH1):c.34C>T (p.Leu12=)
|
rs781696878
|
0.00001
|
|
NM_004360.5(CDH1):c.357G>C (p.Val119=)
|
rs764499933
|
0.00001
|
|
NM_004360.5(CDH1):c.360G>A (p.Gly120=)
|
rs757497479
|
0.00001
|
|
NM_004360.5(CDH1):c.366C>T (p.His122=)
|
rs140123339
|
0.00001
|
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
|
NM_004360.5(CDH1):c.378G>T (p.Pro126=)
|
rs786201504
|
0.00001
|
|
NM_004360.5(CDH1):c.388-17A>G
|
rs571617503
|
0.00001
|
|
NM_004360.5(CDH1):c.462A>G (p.Arg154=)
|
rs1057520261
|
0.00001
|
|
NM_004360.5(CDH1):c.522C>T (p.Asn174=)
|
rs571581856
|
0.00001
|
|
NM_004360.5(CDH1):c.561G>A (p.Lys187=)
|
rs765426607
|
0.00001
|
|
NM_004360.5(CDH1):c.570C>T (p.Tyr190=)
|
rs761753486
|
0.00001
|
|
NM_004360.5(CDH1):c.582C>T (p.Gly194=)
|
rs786202924
|
0.00001
|
|
NM_004360.5(CDH1):c.627A>G (p.Arg209=)
|
rs371601956
|
0.00001
|
|
NM_004360.5(CDH1):c.750C>T (p.Ile250=)
|
rs1960782299
|
0.00001
|
|
NM_004360.5(CDH1):c.768T>C (p.Asn256=)
|
rs759207947
|
0.00001
|
|
NM_004360.5(CDH1):c.774C>T (p.Asn258=)
|
rs1057522747
|
0.00001
|
|
NM_004360.5(CDH1):c.801T>C (p.Phe267=)
|
rs763703927
|
0.00001
|
|
NM_004360.5(CDH1):c.807G>A (p.Gly269=)
|
rs1399656182
|
0.00001
|
|
NM_004360.5(CDH1):c.832+9A>T
|
rs1057521268
|
0.00001
|
|
NM_004360.5(CDH1):c.858C>A (p.Ala286=)
|
rs876660354
|
0.00001
|
|
NM_004360.5(CDH1):c.867G>A (p.Ala289=)
|
rs754143182
|
0.00001
|
|
NM_004360.5(CDH1):c.870C>T (p.Asp290=)
|
rs755215407
|
0.00001
|
|
NM_004360.5(CDH1):c.879G>A (p.Val293=)
|
rs778959722
|
0.00001
|
|
NM_004360.5(CDH1):c.897C>T (p.Ala299=)
|
rs769799936
|
0.00001
|
|
NM_004360.5(CDH1):c.939C>T (p.Asp313=)
|
rs955528859
|
0.00001
|
|
NM_004360.5(CDH1):c.93C>T (p.Gly31=)
|
rs1555509771
|
0.00001
|
|
NM_004360.5(CDH1):c.975C>T (p.Val325=)
|
rs1597894252
|
0.00001
|
|
NM_004360.5(CDH1):c.990C>T (p.Thr330=)
|
rs786203728
|
0.00001
|
|
NM_004360.5(CDH1):c.9T>C (p.Pro3=)
|
rs935070259
|
0.00001
|
|
NM_004525.3(LRP2):c.2639+1G>A
|
rs746752313
|
0.00001
|
|
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)
|
rs386833861
|
0.00001
|
|
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser)
|
rs386833884
|
0.00001
|
|
NM_004655.4(AXIN2):c.1020T>C (p.Ser340=)
|
rs768986730
|
0.00001
|
|
NM_004655.4(AXIN2):c.1083G>A (p.Glu361=)
|
rs1060504494
|
0.00001
|
|
NM_004655.4(AXIN2):c.1095G>A (p.Val365=)
|
rs754059595
|
0.00001
|
|
NM_004655.4(AXIN2):c.1131G>A (p.Arg377=)
|
rs1060504480
|
0.00001
|
|
NM_004655.4(AXIN2):c.1149G>C (p.Leu383=)
|
rs371063358
|
0.00001
|
|
NM_004655.4(AXIN2):c.1158G>A (p.Glu386=)
|
rs1357746305
|
0.00001
|
|
NM_004655.4(AXIN2):c.1164C>T (p.Arg388=)
|
rs781122679
|
0.00001
|
|
NM_004655.4(AXIN2):c.1188G>A (p.Gln396=)
|
rs1060504488
|
0.00001
|
|
NM_004655.4(AXIN2):c.1200+8G>A
|
rs776372607
|
0.00001
|
|
NM_004655.4(AXIN2):c.1201-2A>G
|
rs775783026
|
0.00001
|
|
NM_004655.4(AXIN2):c.1215G>A (p.Glu405=)
|
rs1053887162
|
0.00001
|
|
NM_004655.4(AXIN2):c.1218C>T (p.Gly406=)
|
rs1264541488
|
0.00001
|
|
NM_004655.4(AXIN2):c.1233C>T (p.Leu411=)
|
rs747555966
|
0.00001
|
|
NM_004655.4(AXIN2):c.1239G>A (p.Ser413=)
|
rs1338313550
|
0.00001
|
|
NM_004655.4(AXIN2):c.1248G>T (p.Gly416=)
|
rs1250361702
|
0.00001
|
|
NM_004655.4(AXIN2):c.1251G>T (p.Ala417=)
|
rs557397475
|
0.00001
|
|
NM_004655.4(AXIN2):c.1257G>A (p.Thr419=)
|
rs1415397819
|
0.00001
|
|
NM_004655.4(AXIN2):c.1276C>T (p.Leu426=)
|
rs1228091347
|
0.00001
|
|
NM_004655.4(AXIN2):c.1293C>T (p.Tyr431=)
|
rs552141978
|
0.00001
|
|
NM_004655.4(AXIN2):c.1299A>G (p.Glu433=)
|
rs1367280984
|
0.00001
|
|
NM_004655.4(AXIN2):c.1320C>T (p.Asp440=)
|
rs376935084
|
0.00001
|
|
NM_004655.4(AXIN2):c.1323T>C (p.Asp441=)
|
rs1427901007
|
0.00001
|
|
NM_004655.4(AXIN2):c.1356C>T (p.Cys452=)
|
rs746454700
|
0.00001
|
|
NM_004655.4(AXIN2):c.1413C>T (p.His471=)
|
rs1213025395
|
0.00001
|
|
NM_004655.4(AXIN2):c.1422T>C (p.His474=)
|
rs748049932
|
0.00001
|
|
NM_004655.4(AXIN2):c.1425G>T (p.Ser475=)
|
rs1321803175
|
0.00001
|
|
NM_004655.4(AXIN2):c.1446G>A (p.Pro482=)
|
rs750678891
|
0.00001
|
|
NM_004655.4(AXIN2):c.1467C>T (p.Pro489=)
|
rs1199756577
|
0.00001
|
|
NM_004655.4(AXIN2):c.1473C>T (p.Ala491=)
|
rs1048751630
|
0.00001
|
|
NM_004655.4(AXIN2):c.1476C>T (p.Ala492=)
|
rs931608809
|
0.00001
|
|
NM_004655.4(AXIN2):c.1482G>T (p.Pro494=)
|
rs1057522677
|
0.00001
|
|
NM_004655.4(AXIN2):c.1494C>T (p.Pro498=)
|
rs1353761854
|
0.00001
|
|
NM_004655.4(AXIN2):c.1497C>T (p.Leu499=)
|
rs976214591
|
0.00001
|
|
NM_004655.4(AXIN2):c.1500C>T (p.Leu500=)
|
rs745903369
|
0.00001
|
|
NM_004655.4(AXIN2):c.1509A>G (p.Lys503=)
|
rs1689259583
|
0.00001
|
|
NM_004655.4(AXIN2):c.1521C>T (p.Thr507=)
|
rs1317740172
|
0.00001
|
|
NM_004655.4(AXIN2):c.1533G>A (p.Thr511=)
|
rs765845602
|
0.00001
|
|
NM_004655.4(AXIN2):c.1569C>T (p.Ala523=)
|
rs745968863
|
0.00001
|
|
NM_004655.4(AXIN2):c.156T>C (p.Ser52=)
|
rs1433359604
|
0.00001
|
|
NM_004655.4(AXIN2):c.159C>T (p.Ser53=)
|
rs774320588
|
0.00001
|
|
NM_004655.4(AXIN2):c.1605C>T (p.Ala535=)
|
rs888040292
|
0.00001
|
|
NM_004655.4(AXIN2):c.1632T>C (p.Pro544=)
|
rs1555577634
|
0.00001
|
|
NM_004655.4(AXIN2):c.1644G>A (p.Glu548=)
|
rs1060504486
|
0.00001
|
|
NM_004655.4(AXIN2):c.1656C>T (p.Tyr552=)
|
rs1878615100
|
0.00001
|
|
NM_004655.4(AXIN2):c.1671C>T (p.Ser557=)
|
rs763146338
|
0.00001
|
|
NM_004655.4(AXIN2):c.1677C>T (p.Ser559=)
|
rs773383779
|
0.00001
|
|
NM_004655.4(AXIN2):c.1692C>G (p.Thr564=)
|
rs769069819
|
0.00001
|
|
NM_004655.4(AXIN2):c.1701C>T (p.Ser567=)
|
rs1226661498
|
0.00001
|
|
NM_004655.4(AXIN2):c.1764G>C (p.Pro588=)
|
rs1437268396
|
0.00001
|
|
NM_004655.4(AXIN2):c.1773C>T (p.Ala591=)
|
rs1413003297
|
0.00001
|
|
NM_004655.4(AXIN2):c.1779C>T (p.Pro593=)
|
rs780074933
|
0.00001
|
|
NM_004655.4(AXIN2):c.1785G>A (p.Arg595=)
|
rs1313383874
|
0.00001
|
|
NM_004655.4(AXIN2):c.1803C>T (p.Gly601=)
|
rs760735657
|
0.00001
|
|
NM_004655.4(AXIN2):c.1827C>T (p.Pro609=)
|
rs747605090
|
0.00001
|
|
NM_004655.4(AXIN2):c.1833G>A (p.Glu611=)
|
rs1555577394
|
0.00001
|
|
NM_004655.4(AXIN2):c.1848G>T (p.Ser616=)
|
rs1362072020
|
0.00001
|
|
NM_004655.4(AXIN2):c.184T>C (p.Leu62=)
|
rs769943988
|
0.00001
|
|
NM_004655.4(AXIN2):c.189G>A (p.Gly63=)
|
rs2044307748
|
0.00001
|
|
NM_004655.4(AXIN2):c.1902C>A (p.Pro634=)
|
rs1168312455
|
0.00001
|
|
NM_004655.4(AXIN2):c.1905T>C (p.His635=)
|
rs771764608
|
0.00001
|
|
NM_004655.4(AXIN2):c.1929C>T (p.Ala643=)
|
rs780233103
|
0.00001
|
|
NM_004655.4(AXIN2):c.1932C>T (p.Tyr644=)
|
rs1458077502
|
0.00001
|
|
NM_004655.4(AXIN2):c.195G>A (p.Pro65=)
|
rs748515719
|
0.00001
|
|
NM_004655.4(AXIN2):c.1983T>C (p.His661=)
|
rs199724028
|
0.00001
|
|
NM_004655.4(AXIN2):c.2001C>T (p.Ser667=)
|
rs376242268
|
0.00001
|
|
NM_004655.4(AXIN2):c.201G>C (p.Gly67=)
|
rs1303253199
|
0.00001
|
|
NM_004655.4(AXIN2):c.2022C>G (p.Pro674=)
|
rs556551269
|
0.00001
|
|
NM_004655.4(AXIN2):c.2046C>T (p.Asp682=)
|
rs1180854491
|
0.00001
|
|
NM_004655.4(AXIN2):c.2070A>G (p.Pro690=)
|
rs748402111
|
0.00001
|
|
NM_004655.4(AXIN2):c.2079G>A (p.Thr693=)
|
rs551098654
|
0.00001
|
|
NM_004655.4(AXIN2):c.2100C>T (p.Ala700=)
|
rs1057522521
|
0.00001
|
|
NM_004655.4(AXIN2):c.2118G>A (p.Glu706=)
|
rs1598096602
|
0.00001
|
|
NM_004655.4(AXIN2):c.2145C>T (p.Cys715=)
|
rs752684933
|
0.00001
|
|
NM_004655.4(AXIN2):c.2166G>A (p.Arg722=)
|
rs2043900688
|
0.00001
|
|
NM_004655.4(AXIN2):c.219C>T (p.Ser73=)
|
rs1292845864
|
0.00001
|
|
NM_004655.4(AXIN2):c.21G>A (p.Val7=)
|
rs1467193033
|
0.00001
|
|
NM_004655.4(AXIN2):c.2208C>G (p.Pro736=)
|
rs770458926
|
0.00001
|
|
NM_004655.4(AXIN2):c.2232A>C (p.Pro744=)
|
rs1453123162
|
0.00001
|
|
NM_004655.4(AXIN2):c.2256A>G (p.Lys752=)
|
rs1362609959
|
0.00001
|
|
NM_004655.4(AXIN2):c.2262A>C (p.Ala754=)
|
rs1060504485
|
0.00001
|
|
NM_004655.4(AXIN2):c.2271C>T (p.His757=)
|
rs772041910
|
0.00001
|
|
NM_004655.4(AXIN2):c.2274G>A (p.Ala758=)
|
rs756178538
|
0.00001
|
|
NM_004655.4(AXIN2):c.2343G>A (p.Leu781=)
|
rs1057522118
|
0.00001
|
|
NM_004655.4(AXIN2):c.2355C>T (p.Ser785=)
|
rs1392240261
|
0.00001
|
|
NM_004655.4(AXIN2):c.2394G>A (p.Lys798=)
|
rs878854726
|
0.00001
|
|
NM_004655.4(AXIN2):c.2397A>G (p.Gly799=)
|
rs1037067658
|
0.00001
|
|
NM_004655.4(AXIN2):c.2403T>C (p.Tyr801=)
|
rs745869388
|
0.00001
|
|
NM_004655.4(AXIN2):c.2430T>C (p.Asp810=)
|
rs757835133
|
0.00001
|
|
NM_004655.4(AXIN2):c.243C>A (p.Ser81=)
|
rs573383663
|
0.00001
|
|
NM_004655.4(AXIN2):c.2445A>C (p.Gly815=)
|
rs1359075414
|
0.00001
|
|
NM_004655.4(AXIN2):c.2448G>A (p.Ala816=)
|
rs752357462
|
0.00001
|
|
NM_004655.4(AXIN2):c.2487G>A (p.Pro829=)
|
rs768793839
|
0.00001
|
|
NM_004655.4(AXIN2):c.261C>T (p.Gly87=)
|
rs1567769274
|
0.00001
|
|
NM_004655.4(AXIN2):c.279C>T (p.Tyr93=)
|
rs2044304987
|
0.00001
|
|
NM_004655.4(AXIN2):c.282G>C (p.Leu94=)
|
rs1169205374
|
0.00001
|
|
NM_004655.4(AXIN2):c.295C>T (p.Leu99=)
|
rs761972319
|
0.00001
|
|
NM_004655.4(AXIN2):c.30C>A (p.Leu10=)
|
rs761670939
|
0.00001
|
|
NM_004655.4(AXIN2):c.321C>T (p.Thr107=)
|
rs1060504492
|
0.00001
|
|
NM_004655.4(AXIN2):c.330C>T (p.Phe110=)
|
rs772650933
|
0.00001
|
|
NM_004655.4(AXIN2):c.33G>A (p.Pro11=)
|
rs768626471
|
0.00001
|
|
NM_004655.4(AXIN2):c.390A>G (p.Val130=)
|
rs1266454647
|
0.00001
|
|
NM_004655.4(AXIN2):c.396A>G (p.Lys132=)
|
rs752373189
|
0.00001
|
|
NM_004655.4(AXIN2):c.39C>T (p.Pro13=)
|
rs1060504478
|
0.00001
|
|
NM_004655.4(AXIN2):c.402C>T (p.Ile134=)
|
rs375952649
|
0.00001
|
|
NM_004655.4(AXIN2):c.405C>T (p.Tyr135=)
|
rs141608578
|
0.00001
|
|
NM_004655.4(AXIN2):c.411G>A (p.Arg137=)
|
rs1293302547
|
0.00001
|
|
NM_004655.4(AXIN2):c.414C>T (p.Tyr138=)
|
rs878854730
|
0.00001
|
|
NM_004655.4(AXIN2):c.456C>T (p.Ala152=)
|
rs760074335
|
0.00001
|
|
NM_004655.4(AXIN2):c.459C>T (p.Thr153=)
|
rs1264323190
|
0.00001
|
|
NM_004655.4(AXIN2):c.468C>T (p.Tyr156=)
|
rs62640025
|
0.00001
|
|
NM_004655.4(AXIN2):c.48C>T (p.Ser16=)
|
rs774425655
|
0.00001
|
|
NM_004655.4(AXIN2):c.558C>T (p.Ala186=)
|
rs1598119456
|
0.00001
|
|
NM_004655.4(AXIN2):c.603G>A (p.Arg201=)
|
rs200479426
|
0.00001
|
|
NM_004655.4(AXIN2):c.657G>A (p.Lys219=)
|
rs374955858
|
0.00001
|
|
NM_004655.4(AXIN2):c.699G>A (p.Glu233=)
|
rs1212787166
|
0.00001
|
|
NM_004655.4(AXIN2):c.6T>C (p.Ser2=)
|
rs1475337539
|
0.00001
|
|
NM_004655.4(AXIN2):c.72C>T (p.Pro24=)
|
rs1598120407
|
0.00001
|
|
NM_004655.4(AXIN2):c.798T>C (p.Thr266=)
|
rs2044291724
|
0.00001
|
|
NM_004655.4(AXIN2):c.804C>T (p.Asp268=)
|
rs774218241
|
0.00001
|
|
NM_004655.4(AXIN2):c.815+1G>A
|
rs781384784
|
0.00001
|
|
NM_004655.4(AXIN2):c.876A>G (p.Ala292=)
|
rs755685014
|
0.00001
|
|
NM_004655.4(AXIN2):c.882C>T (p.Ala294=)
|
rs767103313
|
0.00001
|
|
NM_004655.4(AXIN2):c.90A>G (p.Glu30=)
|
rs1060504483
|
0.00001
|
|
NM_004655.4(AXIN2):c.918G>A (p.Ala306=)
|
rs746140442
|
0.00001
|
|
NM_004655.4(AXIN2):c.924G>A (p.Thr308=)
|
rs376829389
|
0.00001
|
|
NM_004655.4(AXIN2):c.945G>A (p.Thr315=)
|
rs780797394
|
0.00001
|
|
NM_004655.4(AXIN2):c.951C>T (p.Ser317=)
|
rs751285883
|
0.00001
|
|
NM_004655.4(AXIN2):c.975T>C (p.Tyr325=)
|
rs1555579360
|
0.00001
|
|
NM_004655.4(AXIN2):c.999C>T (p.Leu333=)
|
rs886848817
|
0.00001
|
|
NM_004656.4(BAP1):c.102C>T (p.Asp34=)
|
rs374877961
|
0.00001
|
|
NM_004656.4(BAP1):c.1032T>C (p.Asn344=)
|
rs781024993
|
0.00001
|
|
NM_004656.4(BAP1):c.1052C>T (p.Thr351Ile)
|
rs1291142030
|
0.00001
|
|
NM_004656.4(BAP1):c.1057A>G (p.Ile353Val)
|
rs1454672768
|
0.00001
|
|
NM_004656.4(BAP1):c.1081C>T (p.Leu361=)
|
rs1460743052
|
0.00001
|
|
NM_004656.4(BAP1):c.1086C>T (p.Asp362=)
|
rs1233834534
|
0.00001
|
|
NM_004656.4(BAP1):c.1117-15T>C
|
rs746597746
|
0.00001
|
|
NM_004656.4(BAP1):c.1128C>T (p.Asp376=)
|
rs756683094
|
0.00001
|
|
NM_004656.4(BAP1):c.1131G>A (p.Leu377=)
|
rs572089064
|
0.00001
|
|
NM_004656.4(BAP1):c.1134G>A (p.Ala378=)
|
rs371493799
|
0.00001
|
|
NM_004656.4(BAP1):c.1200C>T (p.Asp400=)
|
rs1060505013
|
0.00001
|
|
NM_004656.4(BAP1):c.1221T>C (p.Asp407=)
|
rs1028053412
|
0.00001
|
|
NM_004656.4(BAP1):c.123-17C>T
|
rs372265065
|
0.00001
|
|
NM_004656.4(BAP1):c.1236C>T (p.Thr412=)
|
rs1705080492
|
0.00001
|
|
NM_004656.4(BAP1):c.1250+7C>G
|
rs878854738
|
0.00001
|
|
NM_004656.4(BAP1):c.1253A>G (p.Tyr418Cys)
|
rs773947541
|
0.00001
|
|
NM_004656.4(BAP1):c.126T>C (p.Pro42=)
|
rs1156967472
|
0.00001
|
|
NM_004656.4(BAP1):c.1290C>T (p.Ser430=)
|
rs773592865
|
0.00001
|
|
NM_004656.4(BAP1):c.1308A>G (p.Gln436=)
|
rs202038162
|
0.00001
|
|
NM_004656.4(BAP1):c.1323G>A (p.Gln441=)
|
rs749372454
|
0.00001
|
|
NM_004656.4(BAP1):c.1356C>T (p.Leu452=)
|
rs1303107395
|
0.00001
|
|
NM_004656.4(BAP1):c.1358A>G (p.Lys453Arg)
|
rs758996824
|
0.00001
|
|
NM_004656.4(BAP1):c.1387C>T (p.Leu463=)
|
rs145361939
|
0.00001
|
|
NM_004656.4(BAP1):c.1416G>A (p.Gly472=)
|
rs375433595
|
0.00001
|
|
NM_004656.4(BAP1):c.1421C>T (p.Pro474Leu)
|
rs770422186
|
0.00001
|
|
NM_004656.4(BAP1):c.1446G>A (p.Ser482=)
|
rs768062289
|
0.00001
|
|
NM_004656.4(BAP1):c.1458C>T (p.Pro486=)
|
rs567707280
|
0.00001
|
|
NM_004656.4(BAP1):c.1495A>G (p.Ile499Val)
|
rs775760293
|
0.00001
|
|
NM_004656.4(BAP1):c.1515G>A (p.Ser505=)
|
rs374099588
|
0.00001
|
|
NM_004656.4(BAP1):c.1545C>T (p.Asn515=)
|
rs1705044494
|
0.00001
|
|
NM_004656.4(BAP1):c.1548G>A (p.Pro516=)
|
rs148990823
|
0.00001
|
|
NM_004656.4(BAP1):c.1563C>T (p.Ser521=)
|
rs1578220514
|
0.00001
|
|
NM_004656.4(BAP1):c.159C>T (p.Ile53=)
|
rs187643606
|
0.00001
|
|
NM_004656.4(BAP1):c.1611C>T (p.Ser537=)
|
rs773108662
|
0.00001
|
|
NM_004656.4(BAP1):c.1629C>T (p.Cys543=)
|
rs747971455
|
0.00001
|
|
NM_004656.4(BAP1):c.1663C>A (p.Pro555Thr)
|
rs753264498
|
0.00001
|
|
NM_004656.4(BAP1):c.1668C>T (p.Val556=)
|
rs1253002851
|
0.00001
|
|
NM_004656.4(BAP1):c.1692G>A (p.Leu564=)
|
rs773346448
|
0.00001
|
|
NM_004656.4(BAP1):c.1716C>T (p.Pro572=)
|
rs1240647699
|
0.00001
|
|
NM_004656.4(BAP1):c.1721C>T (p.Ala574Val)
|
rs761596789
|
0.00001
|
|
NM_004656.4(BAP1):c.1737G>A (p.Gly579=)
|
rs1276570098
|
0.00001
|
|
NM_004656.4(BAP1):c.174C>G (p.Ser58=)
|
rs776102639
|
0.00001
|
|
NM_004656.4(BAP1):c.1751C>A (p.Pro584His)
|
rs374877744
|
0.00001
|
|
NM_004656.4(BAP1):c.177G>A (p.Arg59=)
|
rs770446947
|
0.00001
|
|
NM_004656.4(BAP1):c.1791C>T (p.Ser597=)
|
rs751730111
|
0.00001
|
|
NM_004656.4(BAP1):c.1809C>T (p.Val603=)
|
rs1338737207
|
0.00001
|
|
NM_004656.4(BAP1):c.180A>G (p.Arg60=)
|
rs1553646020
|
0.00001
|
|
NM_004656.4(BAP1):c.1818C>T (p.Ala606=)
|
rs1553644724
|
0.00001
|
|
NM_004656.4(BAP1):c.1827C>T (p.Ser609=)
|
rs772835408
|
0.00001
|
|
NM_004656.4(BAP1):c.1833G>C (p.Glu611Asp)
|
rs771494475
|
0.00001
|
|
NM_004656.4(BAP1):c.1842G>C (p.Gly614=)
|
rs781269263
|
0.00001
|
|
NM_004656.4(BAP1):c.1858G>A (p.Glu620Lys)
|
rs758585834
|
0.00001
|
|
NM_004656.4(BAP1):c.1863C>G (p.Pro621=)
|
rs752636233
|
0.00001
|
|
NM_004656.4(BAP1):c.1881C>T (p.Tyr627=)
|
rs964152039
|
0.00001
|
|
NM_004656.4(BAP1):c.1905G>A (p.Leu635=)
|
rs1301208674
|
0.00001
|
|
NM_004656.4(BAP1):c.192C>T (p.Thr64=)
|
rs1041117929
|
0.00001
|
|
NM_004656.4(BAP1):c.1947C>T (p.Cys649=)
|
rs1041287605
|
0.00001
|
|
NM_004656.4(BAP1):c.1959G>A (p.Glu653=)
|
rs751219874
|
0.00001
|
|
NM_004656.4(BAP1):c.1968G>A (p.Lys656=)
|
rs762396224
|
0.00001
|
|
NM_004656.4(BAP1):c.1984-21_1984-20del
|
rs751271086
|
0.00001
|
|
NM_004656.4(BAP1):c.2014G>A (p.Asp672Asn)
|
rs144881611
|
0.00001
|
|
NM_004656.4(BAP1):c.2040C>T (p.Ser680=)
|
rs769923250
|
0.00001
|
|
NM_004656.4(BAP1):c.2056+7G>A
|
rs547941257
|
0.00001
|
|
NM_004656.4(BAP1):c.2067C>T (p.Ala689=)
|
rs1477957634
|
0.00001
|
|
NM_004656.4(BAP1):c.2079G>A (p.Glu693=)
|
rs550500585
|
0.00001
|
|
NM_004656.4(BAP1):c.2103C>T (p.Arg701=)
|
rs757780962
|
0.00001
|
|
NM_004656.4(BAP1):c.2118C>A (p.Ile706=)
|
rs201122466
|
0.00001
|
|
NM_004656.4(BAP1):c.2118C>T (p.Ile706=)
|
rs201122466
|
0.00001
|
|
NM_004656.4(BAP1):c.2150G>A (p.Arg717Gln)
|
rs765539314
|
0.00001
|
|
NM_004656.4(BAP1):c.2152C>A (p.Arg718=)
|
rs1186981831
|
0.00001
|
|
NM_004656.4(BAP1):c.2166C>A (p.Arg722=)
|
rs1230324368
|
0.00001
|
|
NM_004656.4(BAP1):c.216T>C (p.Ile72=)
|
rs1257200755
|
0.00001
|
|
NM_004656.4(BAP1):c.250C>T (p.His84Tyr)
|
rs1338231889
|
0.00001
|
|
NM_004656.4(BAP1):c.255+6_255+7insA
|
rs778194859
|
0.00001
|
|
NM_004656.4(BAP1):c.256-17T>C
|
rs543469377
|
0.00001
|
|
NM_004656.4(BAP1):c.285C>T (p.Ala95=)
|
rs1288003773
|
0.00001
|
|
NM_004656.4(BAP1):c.30C>T (p.Ser10=)
|
rs766423600
|
0.00001
|
|
NM_004656.4(BAP1):c.315C>T (p.Ser105=)
|
rs576176888
|
0.00001
|
|
NM_004656.4(BAP1):c.360G>A (p.Lys120=)
|
rs749405309
|
0.00001
|
|
NM_004656.4(BAP1):c.378C>T (p.Ser126=)
|
rs746830670
|
0.00001
|
|
NM_004656.4(BAP1):c.405G>A (p.Pro135=)
|
rs768046980
|
0.00001
|
|
NM_004656.4(BAP1):c.423T>C (p.His141=)
|
rs757571975
|
0.00001
|
|
NM_004656.4(BAP1):c.438-12G>C
|
rs142131779
|
0.00001
|
|
NM_004656.4(BAP1):c.441C>T (p.Pro147=)
|
rs768015706
|
0.00001
|
|
NM_004656.4(BAP1):c.459T>A (p.Pro153=)
|
rs536205982
|
0.00001
|
|
NM_004656.4(BAP1):c.459T>C (p.Pro153=)
|
rs536205982
|
0.00001
|
|
NM_004656.4(BAP1):c.477T>C (p.Leu159=)
|
rs1417121937
|
0.00001
|
|
NM_004656.4(BAP1):c.483A>G (p.Ala161=)
|
rs1578226473
|
0.00001
|
|
NM_004656.4(BAP1):c.54C>T (p.Leu18=)
|
rs769459561
|
0.00001
|
|
NM_004656.4(BAP1):c.576C>T (p.Asp192=)
|
rs765527118
|
0.00001
|
|
NM_004656.4(BAP1):c.581-4C>T
|
rs1578225974
|
0.00001
|
|
NM_004656.4(BAP1):c.581-6C>T
|
rs754576458
|
0.00001
|
|
NM_004656.4(BAP1):c.603G>A (p.Glu201=)
|
rs925338112
|
0.00001
|
|
NM_004656.4(BAP1):c.660-10G>A
|
rs749460317
|
0.00001
|
|
NM_004656.4(BAP1):c.664C>A (p.Pro222Thr)
|
rs780457225
|
0.00001
|
|
NM_004656.4(BAP1):c.688C>T (p.Leu230=)
|
rs150084170
|
0.00001
|
|
NM_004656.4(BAP1):c.6T>C (p.Asn2=)
|
rs753081347
|
0.00001
|
|
NM_004656.4(BAP1):c.720G>A (p.Lys240=)
|
rs1379682858
|
0.00001
|
|
NM_004656.4(BAP1):c.722A>G (p.Tyr241Cys)
|
rs367867008
|
0.00001
|
|
NM_004656.4(BAP1):c.72C>A (p.Val24=)
|
rs1264275534
|
0.00001
|
|
NM_004656.4(BAP1):c.744G>A (p.Leu248=)
|
rs762742357
|
0.00001
|
|
NM_004656.4(BAP1):c.755G>A (p.Arg252His)
|
rs759024400
|
0.00001
|
|
NM_004656.4(BAP1):c.779A>G (p.Gln260Arg)
|
rs878854742
|
0.00001
|
|
NM_004656.4(BAP1):c.795A>G (p.Val265=)
|
rs1553645516
|
0.00001
|
|
NM_004656.4(BAP1):c.948G>A (p.Ala316=)
|
rs776898908
|
0.00001
|
|
NM_005359.6(SMAD4):c.1005A>G (p.Val335=)
|
rs878854762
|
0.00001
|
|
NM_005359.6(SMAD4):c.1059C>T (p.Tyr353=)
|
rs863224400
|
0.00001
|
|
NM_005359.6(SMAD4):c.1098A>G (p.Gln366=)
|
rs990054989
|
0.00001
|
|
NM_005359.6(SMAD4):c.1263A>G (p.Ala421=)
|
rs1406947861
|
0.00001
|
|
NM_005359.6(SMAD4):c.1353G>A (p.Ala451=)
|
rs1441353791
|
0.00001
|
|
NM_005359.6(SMAD4):c.1371A>G (p.Ala457=)
|
rs750933193
|
0.00001
|
|
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=)
|
rs786201261
|
0.00001
|
|
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)
|
rs1057520520
|
0.00001
|
|
NM_005359.6(SMAD4):c.150A>G (p.Lys50=)
|
rs749503989
|
0.00001
|
|
NM_005359.6(SMAD4):c.160T>C (p.Leu54=)
|
rs1053158497
|
0.00001
|
|
NM_005359.6(SMAD4):c.249+10A>C
|
rs752243771
|
0.00001
|
|
NM_005359.6(SMAD4):c.276T>C (p.His92=)
|
rs762501162
|
0.00001
|
|
NM_005359.6(SMAD4):c.336T>A (p.Val112=)
|
rs1328102060
|
0.00001
|
|
NM_005359.6(SMAD4):c.375T>C (p.Ser125=)
|
rs863224401
|
0.00001
|
|
NM_005359.6(SMAD4):c.387T>C (p.Asn129=)
|
rs150229208
|
0.00001
|
|
NM_005359.6(SMAD4):c.390A>G (p.Pro130=)
|
rs755862230
|
0.00001
|
|
NM_005359.6(SMAD4):c.399C>T (p.Tyr133=)
|
rs779069779
|
0.00001
|
|
NM_005359.6(SMAD4):c.39T>C (p.Asn13=)
|
rs376371717
|
0.00001
|
|
NM_005359.6(SMAD4):c.408T>C (p.Val136=)
|
rs1283790116
|
0.00001
|
|
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn)
|
rs750355699
|
0.00001
|
|
NM_005359.6(SMAD4):c.474G>A (p.Val158=)
|
rs749594930
|
0.00001
|
|
NM_005359.6(SMAD4):c.594A>C (p.Pro198=)
|
rs547278031
|
0.00001
|
|
NM_005359.6(SMAD4):c.672G>A (p.Gln224=)
|
rs1397172791
|
0.00001
|
|
NM_005359.6(SMAD4):c.693C>T (p.Gly231=)
|
rs765597059
|
0.00001
|
|
NM_005359.6(SMAD4):c.768G>A (p.Gln256=)
|
rs755677513
|
0.00001
|
|
NM_005359.6(SMAD4):c.789C>T (p.Asn263=)
|
rs763510526
|
0.00001
|
|
NM_005359.6(SMAD4):c.855C>T (p.Asn285=)
|
rs1187796771
|
0.00001
|
|
NM_005359.6(SMAD4):c.870C>T (p.His290=)
|
rs1060504029
|
0.00001
|
|
NM_005359.6(SMAD4):c.876G>A (p.Pro292=)
|
rs753358186
|
0.00001
|
|
NM_005359.6(SMAD4):c.888C>G (p.Pro296=)
|
rs1060504026
|
0.00001
|
|
NM_005359.6(SMAD4):c.894C>T (p.Pro298=)
|
rs781519690
|
0.00001
|
|
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)
|
rs372732220
|
0.00001
|
|
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
|
rs765612286
|
0.00001
|
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
|
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)
|
rs368321176
|
0.00001
|
|
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter)
|
rs749361897
|
0.00001
|
|
NM_006231.4(POLE):c.1026T>C (p.His342=)
|
rs1472394680
|
0.00001
|
|
NM_006231.4(POLE):c.1050C>T (p.His350=)
|
rs752171701
|
0.00001
|
|
NM_006231.4(POLE):c.1062C>G (p.Thr354=)
|
rs145245295
|
0.00001
|
|
NM_006231.4(POLE):c.1092G>T (p.Gly364=)
|
rs749415346
|
0.00001
|
|
NM_006231.4(POLE):c.1110A>G (p.Pro370=)
|
rs772386963
|
0.00001
|
|
NM_006231.4(POLE):c.1134C>G (p.Val378=)
|
rs878854839
|
0.00001
|
|
NM_006231.4(POLE):c.1185G>A (p.Gly395=)
|
rs1593076777
|
0.00001
|
|
NM_006231.4(POLE):c.1197G>A (p.Ala399=)
|
rs1000162996
|
0.00001
|
|
NM_006231.4(POLE):c.1200C>T (p.Pro400=)
|
rs1330997509
|
0.00001
|
|
NM_006231.4(POLE):c.1224C>A (p.Leu408=)
|
rs748536025
|
0.00001
|
|
NM_006231.4(POLE):c.1260C>T (p.Gly420=)
|
rs1057523868
|
0.00001
|
|
NM_006231.4(POLE):c.1278G>A (p.Ala426=)
|
rs1437075270
|
0.00001
|
|
NM_006231.4(POLE):c.1308C>T (p.Pro436=)
|
rs755627156
|
0.00001
|
|
NM_006231.4(POLE):c.1326G>A (p.Glu442=)
|
rs745411507
|
0.00001
|
|
NM_006231.4(POLE):c.1344C>T (p.Ala448=)
|
rs771963023
|
0.00001
|
|
NM_006231.4(POLE):c.1360-20C>G
|
rs781212006
|
0.00001
|
|
NM_006231.4(POLE):c.1392C>T (p.Val464=)
|
rs772578799
|
0.00001
|
|
NM_006231.4(POLE):c.1419C>T (p.Tyr473=)
|
rs369961557
|
0.00001
|
|
NM_006231.4(POLE):c.1420G>A (p.Val474Ile)
|
rs980578884
|
0.00001
|
|
NM_006231.4(POLE):c.802-5C>T
|
rs376302620
|
0.00001
|
|
NM_006231.4(POLE):c.837C>G (p.Thr279=)
|
rs927395918
|
0.00001
|
|
NM_006231.4(POLE):c.841C>T (p.Leu281=)
|
rs765827736
|
0.00001
|
|
NM_006231.4(POLE):c.849C>G (p.Leu283=)
|
rs1232888774
|
0.00001
|
|
NM_006231.4(POLE):c.864T>C (p.Ala288=)
|
rs761167791
|
0.00001
|
|
NM_006231.4(POLE):c.910-5G>A
|
rs750101293
|
0.00001
|
|
NM_006231.4(POLE):c.942A>C (p.Ser314=)
|
rs548933169
|
0.00001
|
|
NM_006231.4(POLE):c.972C>G (p.Pro324=)
|
rs745638752
|
0.00001
|
|
NM_006231.4(POLE):c.975G>A (p.Lys325=)
|
rs778124242
|
0.00001
|
|
NM_006231.4(POLE):c.984T>C (p.Tyr328=)
|
rs1593078331
|
0.00001
|
|
NM_006231.4(POLE):c.996T>C (p.Phe332=)
|
rs779159186
|
0.00001
|
|
NM_006361.6(HOXB13):c.258G>C (p.Gly86=)
|
rs754872559
|
0.00001
|
|
NM_006361.6(HOXB13):c.489G>C (p.Leu163=)
|
rs199561305
|
0.00001
|
|
NM_007194.4(CHEK2):c.-6-4T>C
|
rs2054342764
|
0.00001
|
|
NM_007194.4(CHEK2):c.1005G>A (p.Val335=)
|
rs2052756490
|
0.00001
|
|
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)
|
rs760502479
|
0.00001
|
|
NM_007194.4(CHEK2):c.102G>A (p.Gln34=)
|
rs1555932675
|
0.00001
|
|
NM_007194.4(CHEK2):c.1035C>T (p.His345=)
|
rs756520206
|
0.00001
|
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
|
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His)
|
rs730881688
|
0.00001
|
|
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn)
|
rs28909980
|
0.00001
|
|
NM_007194.4(CHEK2):c.1080G>A (p.Glu360=)
|
rs1601726685
|
0.00001
|
|
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=)
|
rs572668197
|
0.00001
|
|
NM_007194.4(CHEK2):c.1089T>C (p.Leu363=)
|
rs761681864
|
0.00001
|
|
NM_007194.4(CHEK2):c.1096-4T>C
|
rs587782840
|
0.00001
|
|
NM_007194.4(CHEK2):c.1197T>C (p.Val399=)
|
rs1057520268
|
0.00001
|
|
NM_007194.4(CHEK2):c.1200G>C (p.Gly400=)
|
rs876659590
|
0.00001
|
|
NM_007194.4(CHEK2):c.1260-18C>T
|
rs1057521375
|
0.00001
|
|
NM_007194.4(CHEK2):c.1269G>T (p.Gly423=)
|
rs749368980
|
0.00001
|
|
NM_007194.4(CHEK2):c.1284T>C (p.Ser428=)
|
rs781514295
|
0.00001
|
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
|
NM_007194.4(CHEK2):c.1290T>C (p.His430=)
|
rs373864492
|
0.00001
|
|
NM_007194.4(CHEK2):c.1293G>A (p.Arg431=)
|
rs587780175
|
0.00001
|
|
NM_007194.4(CHEK2):c.132C>T (p.Ser44=)
|
rs199715101
|
0.00001
|
|
NM_007194.4(CHEK2):c.1376-13A>G
|
rs1064793330
|
0.00001
|
|
NM_007194.4(CHEK2):c.1386T>C (p.Leu462=)
|
rs876659337
|
0.00001
|
|
NM_007194.4(CHEK2):c.1410T>C (p.Asp470=)
|
rs864622382
|
0.00001
|
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
|
NM_007194.4(CHEK2):c.1431A>G (p.Thr477=)
|
rs2052468226
|
0.00001
|
|
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg)
|
rs587780177
|
0.00001
|
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
|
NM_007194.4(CHEK2):c.1462-1G>A
|
rs1060502698
|
0.00001
|
|
NM_007194.4(CHEK2):c.1476G>A (p.Lys492=)
|
rs898342452
|
0.00001
|
|
NM_007194.4(CHEK2):c.1489del (p.Asp497fs)
|
rs774175654
|
0.00001
|
|
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=)
|
rs762041905
|
0.00001
|
|
NM_007194.4(CHEK2):c.1494T>C (p.Leu498=)
|
rs531931623
|
0.00001
|
|
NM_007194.4(CHEK2):c.1518A>G (p.Thr506=)
|
rs1052262892
|
0.00001
|
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
|
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=)
|
rs786201796
|
0.00001
|
|
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)
|
rs758555487
|
0.00001
|
|
NM_007194.4(CHEK2):c.189A>G (p.Leu63=)
|
rs761028062
|
0.00001
|
|
NM_007194.4(CHEK2):c.225T>G (p.Pro75=)
|
rs1217608176
|
0.00001
|
|
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)
|
rs1555932341
|
0.00001
|
|
NM_007194.4(CHEK2):c.249A>G (p.Gln83=)
|
rs776271158
|
0.00001
|
|
NM_007194.4(CHEK2):c.255T>C (p.Pro85=)
|
rs1418971926
|
0.00001
|
|
NM_007194.4(CHEK2):c.288A>G (p.Leu96=)
|
rs767758092
|
0.00001
|
|
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)
|
rs1064793817
|
0.00001
|
|
NM_007194.4(CHEK2):c.30G>A (p.Gln10=)
|
rs1330700030
|
0.00001
|
|
NM_007194.4(CHEK2):c.319+1G>A
|
rs765080766
|
0.00001
|
|
NM_007194.4(CHEK2):c.319G>A (p.Glu107Lys)
|
rs775320614
|
0.00001
|
|
NM_007194.4(CHEK2):c.339C>T (p.Tyr113=)
|
rs905674348
|
0.00001
|
|
NM_007194.4(CHEK2):c.381A>G (p.Glu127=)
|
rs199929178
|
0.00001
|
|
NM_007194.4(CHEK2):c.387G>A (p.Leu129=)
|
rs560046142
|
0.00001
|
|
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=)
|
rs200917541
|
0.00001
|
|
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)
|
rs786203192
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+2T>G
|
rs560596101
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+3A>G
|
rs587781279
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+4G>A
|
rs1434760802
|
0.00001
|
|
NM_007194.4(CHEK2):c.468C>T (p.Tyr156=)
|
rs1555926996
|
0.00001
|
|
NM_007194.4(CHEK2):c.471T>C (p.Ile157=)
|
rs374170772
|
0.00001
|
|
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg)
|
rs72552323
|
0.00001
|
|
NM_007194.4(CHEK2):c.528G>C (p.Gly176=)
|
rs587780889
|
0.00001
|
|
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe)
|
rs745646057
|
0.00001
|
|
NM_007194.4(CHEK2):c.573G>C (p.Leu191=)
|
rs786201267
|
0.00001
|
|
NM_007194.4(CHEK2):c.582C>T (p.Ser194=)
|
rs761126328
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
|
NM_007194.4(CHEK2):c.592+9A>G
|
rs538351542
|
0.00001
|
|
NM_007194.4(CHEK2):c.645A>G (p.Ala215=)
|
rs761630560
|
0.00001
|
|
NM_007194.4(CHEK2):c.6T>C (p.Ser2=)
|
rs768632104
|
0.00001
|
|
NM_007194.4(CHEK2):c.708G>C (p.Leu236=)
|
rs1359839685
|
0.00001
|
|
NM_007194.4(CHEK2):c.714C>T (p.Phe238=)
|
rs864622322
|
0.00001
|
|
NM_007194.4(CHEK2):c.717G>A (p.Glu239=)
|
rs1555921253
|
0.00001
|
|
NM_007194.4(CHEK2):c.726A>G (p.Thr242=)
|
rs150150389
|
0.00001
|
|
NM_007194.4(CHEK2):c.753C>T (p.Ile251=)
|
rs1422471902
|
0.00001
|
|
NM_007194.4(CHEK2):c.760A>C (p.Arg254=)
|
rs1395878179
|
0.00001
|
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
|
NM_007194.4(CHEK2):c.847-30_847-11dup
|
rs760398606
|
0.00001
|
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
|
NM_007194.4(CHEK2):c.954C>T (p.Arg318=)
|
rs1601738778
|
0.00001
|
|
NM_007194.4(CHEK2):c.990G>A (p.Gln330=)
|
rs9625537
|
0.00001
|
|
NM_007194.4(CHEK2):c.996C>T (p.Leu332=)
|
rs1053994833
|
0.00001
|
|
NM_007194.4(CHEK2):c.997T>C (p.Leu333=)
|
rs1352758126
|
0.00001
|
|
NM_007194.4(CHEK2):c.99A>G (p.Ser33=)
|
rs925489951
|
0.00001
|
|
NM_007294.4(BRCA1):c.1978G>A (p.Val660Ile)
|
rs876660889
|
0.00001
|
|
NM_007294.4(BRCA1):c.2782G>A (p.Gly928Ser)
|
rs80356995
|
0.00001
|
|
NM_007294.4(BRCA1):c.3040A>T (p.Met1014Leu)
|
rs80356933
|
0.00001
|
|
NM_007294.4(BRCA1):c.3515A>G (p.Glu1172Gly)
|
rs80357206
|
0.00001
|
|
NM_007294.4(BRCA1):c.3965A>G (p.Lys1322Arg)
|
rs80357042
|
0.00001
|
|
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly)
|
rs397507225
|
0.00001
|
|
NM_007294.4(BRCA1):c.4846G>A (p.Ala1616Thr)
|
rs890599236
|
0.00001
|
|
NM_007294.4(BRCA1):c.4954A>G (p.Met1652Val)
|
rs1348949389
|
0.00001
|
|
NM_007294.4(BRCA1):c.503A>C (p.Lys168Thr)
|
rs273901743
|
0.00001
|
|
NM_007294.4(BRCA1):c.5407-12C>T
|
rs1432221089
|
0.00001
|
|
NM_007294.4(BRCA1):c.5492C>G (p.Pro1831Arg)
|
rs587782778
|
0.00001
|
|
NM_007294.4(BRCA1):c.5538G>C (p.Gln1846His)
|
rs80356849
|
0.00001
|
|
NM_007294.4(BRCA1):c.925A>G (p.Lys309Glu)
|
rs879255498
|
0.00001
|
|
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)
|
rs180177307
|
0.00001
|
|
NM_013339.4(ALG6):c.680+2T>G
|
rs868768232
|
0.00001
|
|
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)
|
rs372079206
|
0.00001
|
|
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln)
|
rs766096417
|
0.00001
|
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
|
NM_015166.4(MLC1):c.178-10T>A
|
rs80358243
|
0.00001
|
|
NM_015166.4(MLC1):c.240G>A (p.Met80Ile)
|
rs281875310
|
0.00001
|
|
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)
|
rs80358245
|
0.00001
|
|
NM_016955.4(SEPSECS):c.1148dup (p.His383fs)
|
rs761072755
|
0.00001
|
|
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)
|
rs267607035
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)
|
rs762972459
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)
|
rs150877512
|
0.00001
|
|
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)
|
rs375431575
|
0.00001
|
|
NM_017763.6(RNF43):c.988C>T (p.Arg330Ter)
|
rs1972767451
|
0.00001
|
|
NM_018941.4(CLN8):c.1A>G (p.Met1Val)
|
rs143730802
|
0.00001
|
|
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)
|
rs587779411
|
0.00001
|
|
NM_020533.3(MCOLN1):c.405+1G>A
|
rs148748724
|
0.00001
|
|
NM_020975.6(RET):c.1915G>A (p.Ala639Thr)
|
rs777122776
|
0.00001
|
|
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)
|
rs377767411
|
0.00001
|
|
NM_020975.6(RET):c.2070C>T (p.Ser690=)
|
rs201550433
|
0.00001
|
|
NM_020975.6(RET):c.2289C>T (p.Asn763=)
|
rs777349208
|
0.00001
|
|
NM_020975.6(RET):c.2715C>T (p.Tyr905=)
|
rs755023496
|
0.00001
|
|
NM_020975.6(RET):c.973G>A (p.Ala325Thr)
|
rs779719517
|
0.00001
|
|
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys)
|
rs769587233
|
0.00001
|
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
|
NM_024675.4(PALB2):c.1014A>G (p.Pro338=)
|
rs540622230
|
0.00001
|
|
NM_024675.4(PALB2):c.1033T>C (p.Leu345=)
|
rs786201393
|
0.00001
|
|
NM_024675.4(PALB2):c.1035A>G (p.Leu345=)
|
rs876658634
|
0.00001
|
|
NM_024675.4(PALB2):c.1038A>G (p.Lys346=)
|
rs515726059
|
0.00001
|
|
NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser)
|
rs876660876
|
0.00001
|
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
|
NM_024675.4(PALB2):c.1097A>G (p.Asn366Ser)
|
rs554849907
|
0.00001
|
|
NM_024675.4(PALB2):c.10C>T (p.Pro4Ser)
|
rs587782483
|
0.00001
|
|
NM_024675.4(PALB2):c.1110G>A (p.Gln370=)
|
rs756002989
|
0.00001
|
|
NM_024675.4(PALB2):c.1119G>A (p.Glu373=)
|
rs45623436
|
0.00001
|
|
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile)
|
rs373298267
|
0.00001
|
|
NM_024675.4(PALB2):c.1125A>G (p.Leu375=)
|
rs767284930
|
0.00001
|
|
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)
|
rs515726063
|
0.00001
|
|
NM_024675.4(PALB2):c.1164T>C (p.Pro388=)
|
rs1205215998
|
0.00001
|
|
NM_024675.4(PALB2):c.1179A>G (p.Lys393=)
|
rs976340416
|
0.00001
|
|
NM_024675.4(PALB2):c.1188C>T (p.Cys396=)
|
rs587780817
|
0.00001
|
|
NM_024675.4(PALB2):c.1230T>C (p.Val410=)
|
rs587780818
|
0.00001
|
|
NM_024675.4(PALB2):c.1242A>C (p.Arg414=)
|
rs875989795
|
0.00001
|
|
NM_024675.4(PALB2):c.1257C>T (p.Cys419=)
|
rs786201086
|
0.00001
|
|
NM_024675.4(PALB2):c.1263G>A (p.Arg421=)
|
rs876660359
|
0.00001
|
|
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)
|
rs765125459
|
0.00001
|
|
NM_024675.4(PALB2):c.1380A>G (p.Gln460=)
|
rs372641262
|
0.00001
|
|
NM_024675.4(PALB2):c.1398T>G (p.Ser466=)
|
rs780026905
|
0.00001
|
|
NM_024675.4(PALB2):c.1400G>A (p.Gly467Asp)
|
rs730881906
|
0.00001
|
|
NM_024675.4(PALB2):c.1446C>G (p.Leu482=)
|
rs368759893
|
0.00001
|
|
NM_024675.4(PALB2):c.1503G>A (p.Arg501=)
|
rs1060504705
|
0.00001
|
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
|
NM_024675.4(PALB2):c.1545A>G (p.Lys515=)
|
rs368503108
|
0.00001
|
|
NM_024675.4(PALB2):c.1551A>G (p.Lys517=)
|
rs755845383
|
0.00001
|
|
NM_024675.4(PALB2):c.1557C>T (p.Ala519=)
|
rs752349785
|
0.00001
|
|
NM_024675.4(PALB2):c.155T>C (p.Val52Ala)
|
rs373970237
|
0.00001
|
|
NM_024675.4(PALB2):c.1563C>G (p.Thr521=)
|
rs864622170
|
0.00001
|
|
NM_024675.4(PALB2):c.1569A>G (p.Ala523=)
|
rs1200825980
|
0.00001
|
|
NM_024675.4(PALB2):c.156del (p.Glu53fs)
|
rs587776406
|
0.00001
|
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
|
NM_024675.4(PALB2):c.1611G>A (p.Ser537=)
|
rs730881874
|
0.00001
|
|
NM_024675.4(PALB2):c.1662A>G (p.Glu554=)
|
rs786202692
|
0.00001
|
|
NM_024675.4(PALB2):c.1685-14T>A
|
rs780772404
|
0.00001
|
|
NM_024675.4(PALB2):c.1685-7T>G
|
rs1555460705
|
0.00001
|
|
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)
|
rs746582620
|
0.00001
|
|
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile)
|
rs587780207
|
0.00001
|
|
NM_024675.4(PALB2):c.1734T>C (p.Ser578=)
|
rs757036149
|
0.00001
|
|
NM_024675.4(PALB2):c.1743A>G (p.Leu581=)
|
rs180177105
|
0.00001
|
|
NM_024675.4(PALB2):c.1785T>C (p.Asp595=)
|
rs1555460651
|
0.00001
|
|
NM_024675.4(PALB2):c.1792C>T (p.Leu598=)
|
rs746702349
|
0.00001
|
|
NM_024675.4(PALB2):c.1809A>G (p.Leu603=)
|
rs878855103
|
0.00001
|
|
NM_024675.4(PALB2):c.1830A>G (p.Thr610=)
|
rs876659484
|
0.00001
|
|
NM_024675.4(PALB2):c.1883A>C (p.Lys628Thr)
|
rs954390684
|
0.00001
|
|
NM_024675.4(PALB2):c.1908G>A (p.Glu636=)
|
rs1392612467
|
0.00001
|
|
NM_024675.4(PALB2):c.1923A>G (p.Lys641=)
|
rs775283927
|
0.00001
|
|
NM_024675.4(PALB2):c.1932A>C (p.Gly644=)
|
rs1567218470
|
0.00001
|
|
NM_024675.4(PALB2):c.195G>A (p.Pro65=)
|
rs751176316
|
0.00001
|
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
|
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)
|
rs62625277
|
0.00001
|
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
|
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn)
|
rs730881885
|
0.00001
|
|
NM_024675.4(PALB2):c.2031T>C (p.Val677=)
|
rs864622756
|
0.00001
|
|
NM_024675.4(PALB2):c.206A>T (p.His69Leu)
|
rs749443090
|
0.00001
|
|
NM_024675.4(PALB2):c.2079T>C (p.His693=)
|
rs1433680345
|
0.00001
|
|
NM_024675.4(PALB2):c.2087C>T (p.Thr696Met)
|
rs587780820
|
0.00001
|
|
NM_024675.4(PALB2):c.2103C>T (p.Ser701=)
|
rs753583700
|
0.00001
|
|
NM_024675.4(PALB2):c.2107T>C (p.Leu703=)
|
rs756030419
|
0.00001
|
|
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)
|
rs765942523
|
0.00001
|
|
NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser)
|
rs148335539
|
0.00001
|
|
NM_024675.4(PALB2):c.2163A>C (p.Thr721=)
|
rs587781105
|
0.00001
|
|
NM_024675.4(PALB2):c.2176C>T (p.Pro726Ser)
|
rs566813395
|
0.00001
|
|
NM_024675.4(PALB2):c.21G>A (p.Lys7=)
|
rs1424944402
|
0.00001
|
|
NM_024675.4(PALB2):c.2229T>C (p.Tyr743=)
|
rs730881888
|
0.00001
|
|
NM_024675.4(PALB2):c.2235A>G (p.Lys745=)
|
rs765854776
|
0.00001
|
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
|
NM_024675.4(PALB2):c.2274C>T (p.Pro758=)
|
rs183322618
|
0.00001
|
|
NM_024675.4(PALB2):c.2277A>G (p.Gln759=)
|
rs786202524
|
0.00001
|
|
NM_024675.4(PALB2):c.2298A>G (p.Ser766=)
|
rs754921518
|
0.00001
|
|
NM_024675.4(PALB2):c.229T>C (p.Cys77Arg)
|
rs760045493
|
0.00001
|
|
NM_024675.4(PALB2):c.2328C>T (p.Phe776=)
|
rs45508997
|
0.00001
|
|
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)
|
rs148026749
|
0.00001
|
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
rs764509489
|
0.00001
|
|
NM_024675.4(PALB2):c.2337A>C (p.Ser779=)
|
rs786201651
|
0.00001
|
|
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)
|
rs786203296
|
0.00001
|
|
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)
|
rs786203608
|
0.00001
|
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
|
NM_024675.4(PALB2):c.2391A>G (p.Gln797=)
|
rs780015674
|
0.00001
|
|
NM_024675.4(PALB2):c.2415C>T (p.Val805=)
|
rs756996540
|
0.00001
|
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
rs763191051
|
0.00001
|
|
NM_024675.4(PALB2):c.2478C>T (p.Asn826=)
|
rs786201885
|
0.00001
|
|
NM_024675.4(PALB2):c.2484C>T (p.Cys828=)
|
rs875989798
|
0.00001
|
|
NM_024675.4(PALB2):c.24C>A (p.Pro8=)
|
rs766487850
|
0.00001
|
|
NM_024675.4(PALB2):c.24C>T (p.Pro8=)
|
rs766487850
|
0.00001
|
|
NM_024675.4(PALB2):c.2505C>T (p.Ser835=)
|
rs756502783
|
0.00001
|
|
NM_024675.4(PALB2):c.2508C>G (p.Val836=)
|
rs786203603
|
0.00001
|
|
NM_024675.4(PALB2):c.2514+3dup
|
rs587781602
|
0.00001
|
|
NM_024675.4(PALB2):c.2569T>C (p.Leu857=)
|
rs786201642
|
0.00001
|
|
NM_024675.4(PALB2):c.2571G>A (p.Leu857=)
|
rs587780821
|
0.00001
|
|
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)
|
rs587782387
|
0.00001
|
|
NM_024675.4(PALB2):c.2640C>T (p.Ala880=)
|
rs752928633
|
0.00001
|
|
NM_024675.4(PALB2):c.2655A>G (p.Pro885=)
|
rs1057524113
|
0.00001
|
|
NM_024675.4(PALB2):c.2673C>T (p.Cys891=)
|
rs78179744
|
0.00001
|
|
NM_024675.4(PALB2):c.2739C>T (p.His913=)
|
rs876660557
|
0.00001
|
|
NM_024675.4(PALB2):c.2753C>A (p.Pro918Gln)
|
rs587780822
|
0.00001
|
|
NM_024675.4(PALB2):c.2784G>A (p.Val928=)
|
rs763411245
|
0.00001
|
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
rs773831304
|
0.00001
|
|
NM_024675.4(PALB2):c.2799T>C (p.Cys933=)
|
rs748232940
|
0.00001
|
|
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)
|
rs778602038
|
0.00001
|
|
NM_024675.4(PALB2):c.2835-11A>G
|
rs747232850
|
0.00001
|
|
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)
|
rs515726103
|
0.00001
|
|
NM_024675.4(PALB2):c.2880A>G (p.Leu960=)
|
rs1057520342
|
0.00001
|
|
NM_024675.4(PALB2):c.2955T>G (p.Ser985=)
|
rs765643734
|
0.00001
|
|
NM_024675.4(PALB2):c.2967A>G (p.Val989=)
|
rs1966799199
|
0.00001
|
|
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)
|
rs61756146
|
0.00001
|
|
NM_024675.4(PALB2):c.2985A>T (p.Ala995=)
|
rs786202892
|
0.00001
|
|
NM_024675.4(PALB2):c.3024C>T (p.Pro1008=)
|
rs180177130
|
0.00001
|
|
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile)
|
rs367840862
|
0.00001
|
|
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg)
|
rs143808171
|
0.00001
|
|
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)
|
rs746872839
|
0.00001
|
|
NM_024675.4(PALB2):c.3099C>T (p.Asn1033=)
|
rs1057523064
|
0.00001
|
|
NM_024675.4(PALB2):c.309G>A (p.Gly103=)
|
rs546015723
|
0.00001
|
|
NM_024675.4(PALB2):c.30C>T (p.Ser10=)
|
rs758500749
|
0.00001
|
|
NM_024675.4(PALB2):c.3113+5G>C
|
rs876659463
|
0.00001
|
|
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)
|
rs377713277
|
0.00001
|
|
NM_024675.4(PALB2):c.312T>C (p.Pro104=)
|
rs749203259
|
0.00001
|
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
|
NM_024675.4(PALB2):c.3201+1G>T
|
rs587776423
|
0.00001
|
|
NM_024675.4(PALB2):c.3202-9C>T
|
rs757444247
|
0.00001
|
|
NM_024675.4(PALB2):c.3204G>A (p.Gly1068=)
|
rs786203475
|
0.00001
|
|
NM_024675.4(PALB2):c.3219C>G (p.Val1073=)
|
rs876658924
|
0.00001
|
|
NM_024675.4(PALB2):c.3276C>T (p.Leu1092=)
|
rs779003246
|
0.00001
|
|
NM_024675.4(PALB2):c.3282G>A (p.Val1094=)
|
rs747861082
|
0.00001
|
|
NM_024675.4(PALB2):c.3288C>T (p.Asn1096=)
|
rs1597066782
|
0.00001
|
|
NM_024675.4(PALB2):c.330A>G (p.Gly110=)
|
rs876660773
|
0.00001
|
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
|
NM_024675.4(PALB2):c.3357G>A (p.Leu1119=)
|
rs1966406468
|
0.00001
|
|
NM_024675.4(PALB2):c.3366C>T (p.Asp1122=)
|
rs373783514
|
0.00001
|
|
NM_024675.4(PALB2):c.336C>T (p.Gly112=)
|
rs1293127133
|
0.00001
|
|
NM_024675.4(PALB2):c.3394T>C (p.Leu1132=)
|
rs1282821765
|
0.00001
|
|
NM_024675.4(PALB2):c.3453C>G (p.Leu1151=)
|
rs777315394
|
0.00001
|
|
NM_024675.4(PALB2):c.3476G>T (p.Trp1159Leu)
|
rs587782050
|
0.00001
|
|
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=)
|
rs372686500
|
0.00001
|
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
|
NM_024675.4(PALB2):c.3510T>C (p.His1170=)
|
rs1966396385
|
0.00001
|
|
NM_024675.4(PALB2):c.351T>C (p.Pro117=)
|
rs763330757
|
0.00001
|
|
NM_024675.4(PALB2):c.3525A>G (p.Gln1175=)
|
rs763513849
|
0.00001
|
|
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val)
|
rs863224788
|
0.00001
|
|
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)
|
rs370404126
|
0.00001
|
|
NM_024675.4(PALB2):c.3558A>G (p.Ser1186=)
|
rs1164709092
|
0.00001
|
|
NM_024675.4(PALB2):c.36G>A (p.Glu12=)
|
rs760609798
|
0.00001
|
|
NM_024675.4(PALB2):c.372C>T (p.Thr124=)
|
rs786201904
|
0.00001
|
|
NM_024675.4(PALB2):c.405T>C (p.Pro135=)
|
rs786201586
|
0.00001
|
|
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser)
|
rs587781498
|
0.00001
|
|
NM_024675.4(PALB2):c.462A>G (p.Thr154=)
|
rs1057522196
|
0.00001
|
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
|
NM_024675.4(PALB2):c.504A>C (p.Ser168=)
|
rs754500464
|
0.00001
|
|
NM_024675.4(PALB2):c.507C>G (p.Leu169=)
|
rs1375166092
|
0.00001
|
|
NM_024675.4(PALB2):c.509G>C (p.Arg170Thr)
|
rs898765598
|
0.00001
|
|
NM_024675.4(PALB2):c.531G>A (p.Lys177=)
|
rs779739454
|
0.00001
|
|
NM_024675.4(PALB2):c.546C>T (p.Ile182=)
|
rs1597098917
|
0.00001
|
|
NM_024675.4(PALB2):c.585A>T (p.Ile195=)
|
rs767775306
|
0.00001
|
|
NM_024675.4(PALB2):c.587G>A (p.Arg196Lys)
|
rs730881904
|
0.00001
|
|
NM_024675.4(PALB2):c.615A>G (p.Glu205=)
|
rs748128739
|
0.00001
|
|
NM_024675.4(PALB2):c.620C>G (p.Pro207Arg)
|
rs515726125
|
0.00001
|
|
NM_024675.4(PALB2):c.636A>G (p.Pro212=)
|
rs1555461696
|
0.00001
|
|
NM_024675.4(PALB2):c.660T>C (p.Ser220=)
|
rs571762192
|
0.00001
|
|
NM_024675.4(PALB2):c.66A>G (p.Ala22=)
|
rs1057520982
|
0.00001
|
|
NM_024675.4(PALB2):c.735G>A (p.Ala245=)
|
rs371612049
|
0.00001
|
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
|
NM_024675.4(PALB2):c.769G>A (p.Gly257Ser)
|
rs587780824
|
0.00001
|
|
NM_024675.4(PALB2):c.78G>A (p.Arg26=)
|
rs45572434
|
0.00001
|
|
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)
|
rs515726127
|
0.00001
|
|
NM_024675.4(PALB2):c.828C>T (p.His276=)
|
rs911713488
|
0.00001
|
|
NM_024675.4(PALB2):c.831C>T (p.Asp277=)
|
rs62625273
|
0.00001
|
|
NM_024675.4(PALB2):c.840C>T (p.Asn280=)
|
rs375258299
|
0.00001
|
|
NM_024675.4(PALB2):c.84C>T (p.Tyr28=)
|
rs761533286
|
0.00001
|
|
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)
|
rs45585833
|
0.00001
|
|
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)
|
rs45561331
|
0.00001
|
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
|
NM_024675.4(PALB2):c.993A>G (p.Glu331=)
|
rs760362870
|
0.00001
|
|
NM_031885.5(BBS2):c.224T>G (p.Val75Gly)
|
rs121908174
|
0.00001
|
|
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp)
|
rs797045155
|
0.00001
|
|
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter)
|
rs1603342313
|
0.00001
|
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
0.00001
|
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
|
NM_032043.3(BRIP1):c.2419T>C (p.Leu807=)
|
rs786201708
|
0.00001
|
|
NM_032043.3(BRIP1):c.2427T>C (p.Gly809=)
|
rs754927538
|
0.00001
|
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
0.00001
|
|
NM_032043.3(BRIP1):c.2472C>T (p.Ala824=)
|
rs767666616
|
0.00001
|
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
0.00001
|
|
NM_032043.3(BRIP1):c.3276G>A (p.Pro1092=)
|
rs375911315
|
0.00001
|
|
NM_032043.3(BRIP1):c.3354T>C (p.Asn1118=)
|
rs757427210
|
0.00001
|
|
NM_032043.3(BRIP1):c.3489T>C (p.Asp1163=)
|
rs144245485
|
0.00001
|
|
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)
|
rs764848326
|
0.00001
|
|
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
|
rs1412610651
|
0.00001
|
|
NM_032520.5(GNPTG):c.233+1G>A
|
rs376679416
|
0.00001
|
|
NM_054012.4(ASS1):c.689-2A>C
|
rs374586230
|
0.00001
|
|
NM_058216.3(RAD51C):c.1008A>G (p.Thr336=)
|
rs1057521598
|
0.00001
|
|
NM_058216.3(RAD51C):c.141C>T (p.Ser47=)
|
rs568912602
|
0.00001
|
|
NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu)
|
rs730881927
|
0.00001
|
|
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile)
|
rs112832782
|
0.00001
|
|
NM_058216.3(RAD51C):c.252G>T (p.Lys84Asn)
|
rs786202890
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+2T>C
|
rs730881931
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+7T>C
|
rs1350153132
|
0.00001
|
|
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)
|
rs267606999
|
0.00001
|
|
NM_058216.3(RAD51C):c.435A>G (p.Pro145=)
|
rs555235745
|
0.00001
|
|
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)
|
rs765730332
|
0.00001
|
|
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)
|
rs587780838
|
0.00001
|
|
NM_058216.3(RAD51C):c.571+4A>G
|
rs587780257
|
0.00001
|
|
NM_058216.3(RAD51C):c.621T>A (p.His207Gln)
|
rs786201848
|
0.00001
|
|
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser)
|
rs201529791
|
0.00001
|
|
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln)
|
rs730881926
|
0.00001
|
|
NM_058216.3(RAD51C):c.835G>C (p.Ala279Pro)
|
rs587782507
|
0.00001
|
|
NM_058216.3(RAD51C):c.869T>C (p.Ile290Thr)
|
rs749645694
|
0.00001
|
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-2A>C
|
rs779582317
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
|
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs)
|
rs747170980
|
0.00001
|
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
|
NM_138694.4(PKHD1):c.707+1G>A
|
rs748365248
|
0.00001
|
|
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln)
|
rs375352888
|
0.00001
|
|
NM_144997.7(FLCN):c.1035C>G (p.Val345=)
|
rs755850825
|
0.00001
|
|
NM_144997.7(FLCN):c.1047C>T (p.Leu349=)
|
rs1460704611
|
0.00001
|
|
NM_144997.7(FLCN):c.1059G>A (p.Arg353=)
|
rs751513488
|
0.00001
|
|
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)
|
rs766801011
|
0.00001
|
|
NM_144997.7(FLCN):c.1197C>T (p.Cys399=)
|
rs750894316
|
0.00001
|
|
NM_144997.7(FLCN):c.1199T>C (p.Val400Ala)
|
rs760079073
|
0.00001
|
|
NM_144997.7(FLCN):c.1227C>T (p.Tyr409=)
|
rs561236067
|
0.00001
|
|
NM_144997.7(FLCN):c.1230G>A (p.Glu410=)
|
rs749287631
|
0.00001
|
|
NM_144997.7(FLCN):c.1236C>G (p.Ala412=)
|
rs769968368
|
0.00001
|
|
NM_144997.7(FLCN):c.1252C>T (p.Leu418=)
|
rs1060504595
|
0.00001
|
|
NM_144997.7(FLCN):c.1260C>G (p.Leu420=)
|
rs780571501
|
0.00001
|
|
NM_144997.7(FLCN):c.1260C>T (p.Leu420=)
|
rs780571501
|
0.00001
|
|
NM_144997.7(FLCN):c.1266G>A (p.Pro422=)
|
rs751013842
|
0.00001
|
|
NM_144997.7(FLCN):c.1267C>T (p.His423Tyr)
|
rs765628527
|
0.00001
|
|
NM_144997.7(FLCN):c.1301-8T>C
|
rs571192457
|
0.00001
|
|
NM_144997.7(FLCN):c.135G>A (p.Ala45=)
|
rs759930161
|
0.00001
|
|
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)
|
rs759637055
|
0.00001
|
|
NM_144997.7(FLCN):c.1392G>A (p.Glu464=)
|
rs1404739465
|
0.00001
|
|
NM_144997.7(FLCN):c.1415C>T (p.Pro472Leu)
|
rs1180118315
|
0.00001
|
|
NM_144997.7(FLCN):c.1416T>C (p.Pro472=)
|
rs1420039293
|
0.00001
|
|
NM_144997.7(FLCN):c.1419A>C (p.Val473=)
|
rs141036419
|
0.00001
|
|
NM_144997.7(FLCN):c.1433-13C>T
|
rs200771620
|
0.00001
|
|
NM_144997.7(FLCN):c.1433-15del
|
rs745790223
|
0.00001
|
|
NM_144997.7(FLCN):c.1440C>T (p.Pro480=)
|
rs1597579041
|
0.00001
|
|
NM_144997.7(FLCN):c.1476C>T (p.Asn492=)
|
rs779837933
|
0.00001
|
|
NM_144997.7(FLCN):c.1512C>T (p.Leu504=)
|
rs757471403
|
0.00001
|
|
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)
|
rs398124529
|
0.00001
|
|
NM_144997.7(FLCN):c.1539-16T>G
|
rs553673947
|
0.00001
|
|
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)
|
rs879255683
|
0.00001
|
|
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs)
|
rs753009073
|
0.00001
|
|
NM_144997.7(FLCN):c.1599G>C (p.Gln533His)
|
rs190965235
|
0.00001
|
|
NM_144997.7(FLCN):c.1623G>A (p.Ala541=)
|
rs185419942
|
0.00001
|
|
NM_144997.7(FLCN):c.1626C>T (p.Ser542=)
|
rs1433647771
|
0.00001
|
|
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)
|
rs760329266
|
0.00001
|
|
NM_144997.7(FLCN):c.1707C>T (p.Val569=)
|
rs1597573624
|
0.00001
|
|
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)
|
rs778275358
|
0.00001
|
|
NM_144997.7(FLCN):c.179C>T (p.Ala60Val)
|
rs779900587
|
0.00001
|
|
NM_144997.7(FLCN):c.190G>A (p.Ala64Thr)
|
rs778587763
|
0.00001
|
|
NM_144997.7(FLCN):c.201C>G (p.Ala67=)
|
rs764082089
|
0.00001
|
|
NM_144997.7(FLCN):c.207C>T (p.Val69=)
|
rs759772780
|
0.00001
|
|
NM_144997.7(FLCN):c.210G>A (p.Glu70=)
|
rs771202158
|
0.00001
|
|
NM_144997.7(FLCN):c.237G>A (p.Ser79=)
|
rs771650940
|
0.00001
|
|
NM_144997.7(FLCN):c.237G>T (p.Ser79=)
|
rs771650940
|
0.00001
|
|
NM_144997.7(FLCN):c.278C>T (p.Pro93Leu)
|
rs766548696
|
0.00001
|
|
NM_144997.7(FLCN):c.318C>T (p.Tyr106=)
|
rs773946854
|
0.00001
|
|
NM_144997.7(FLCN):c.321C>T (p.Val107=)
|
rs1383654925
|
0.00001
|
|
NM_144997.7(FLCN):c.339C>T (p.Ser113=)
|
rs1350727957
|
0.00001
|
|
NM_144997.7(FLCN):c.33C>T (p.Cys11=)
|
rs754616167
|
0.00001
|
|
NM_144997.7(FLCN):c.342C>A (p.His114Gln)
|
rs1448942524
|
0.00001
|
|
NM_144997.7(FLCN):c.42C>T (p.His14=)
|
rs766288960
|
0.00001
|
|
NM_144997.7(FLCN):c.45C>T (p.Gly15=)
|
rs773349151
|
0.00001
|
|
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)
|
rs774358971
|
0.00001
|
|
NM_144997.7(FLCN):c.546C>T (p.Leu182=)
|
rs773535830
|
0.00001
|
|
NM_144997.7(FLCN):c.561C>T (p.Pro187=)
|
rs1267713990
|
0.00001
|
|
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile)
|
rs1407566775
|
0.00001
|
|
NM_144997.7(FLCN):c.565C>T (p.Leu189=)
|
rs781433539
|
0.00001
|
|
NM_144997.7(FLCN):c.603G>T (p.Gln201His)
|
rs759405317
|
0.00001
|
|
NM_144997.7(FLCN):c.60C>T (p.Phe20=)
|
rs776605909
|
0.00001
|
|
NM_144997.7(FLCN):c.612G>A (p.Ala204=)
|
rs763168749
|
0.00001
|
|
NM_144997.7(FLCN):c.618+3G>A
|
rs773197802
|
0.00001
|
|
NM_144997.7(FLCN):c.619-15C>T
|
rs572284084
|
0.00001
|
|
NM_144997.7(FLCN):c.630A>G (p.Ala210=)
|
rs1305220357
|
0.00001
|
|
NM_144997.7(FLCN):c.672A>G (p.Thr224=)
|
rs1555609880
|
0.00001
|
|
NM_144997.7(FLCN):c.681G>A (p.Thr227=)
|
rs781035304
|
0.00001
|
|
NM_144997.7(FLCN):c.702C>T (p.Asn234=)
|
rs1471089893
|
0.00001
|
|
NM_144997.7(FLCN):c.703G>A (p.Gly235Ser)
|
rs200693409
|
0.00001
|
|
NM_144997.7(FLCN):c.729G>A (p.Ser243=)
|
rs377261933
|
0.00001
|
|
NM_144997.7(FLCN):c.780-6C>T
|
rs752746072
|
0.00001
|
|
NM_144997.7(FLCN):c.789G>A (p.Lys263=)
|
rs1483962771
|
0.00001
|
|
NM_144997.7(FLCN):c.791C>T (p.Ala264Val)
|
rs372304384
|
0.00001
|
|
NM_144997.7(FLCN):c.810C>A (p.Thr270=)
|
rs372342796
|
0.00001
|
|
NM_144997.7(FLCN):c.819C>T (p.Leu273=)
|
rs749057444
|
0.00001
|
|
NM_144997.7(FLCN):c.822G>A (p.Leu274=)
|
rs777731843
|
0.00001
|
|
NM_144997.7(FLCN):c.825A>G (p.Glu275=)
|
rs769758699
|
0.00001
|
|
NM_144997.7(FLCN):c.837C>T (p.Thr279=)
|
rs751877389
|
0.00001
|
|
NM_144997.7(FLCN):c.873T>C (p.Asp291=)
|
rs767527483
|
0.00001
|
|
NM_144997.7(FLCN):c.933T>C (p.Pro311=)
|
rs769183979
|
0.00001
|
|
NM_144997.7(FLCN):c.937T>C (p.Leu313=)
|
rs1432138522
|
0.00001
|
|
NM_144997.7(FLCN):c.939G>A (p.Leu313=)
|
rs558365108
|
0.00001
|
|
NM_144997.7(FLCN):c.958C>T (p.Arg320Trp)
|
rs777456756
|
0.00001
|
|
NM_144997.7(FLCN):c.978G>A (p.Pro326=)
|
rs920594920
|
0.00001
|
|
NM_144997.7(FLCN):c.981A>G (p.Ala327=)
|
rs763078516
|
0.00001
|
|
NM_144997.7(FLCN):c.984G>A (p.Glu328=)
|
rs773355729
|
0.00001
|
|
NM_144997.7(FLCN):c.997T>C (p.Ser333Pro)
|
rs1470514558
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
|
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)
|
rs780598553
|
0.00001
|
|
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594
|
0.00001
|
|
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys)
|
rs749121941
|
0.00001
|
|
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
|
rs759898765
|
0.00001
|
|
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)
|
rs397517984
|
0.00001
|
|
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)
|
rs527236122
|
0.00001
|
|
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)
|
rs758095361
|
0.00001
|
|
NM_206933.4(USH2A):c.6986C>A (p.Pro2329His)
|
rs554957414
|
0.00001
|
|
NC_000013.11:g.32316408C>T
|
rs398122721
|
|
|
NC_000016.10:g.23626399T>C
|
rs1060502787
|
|
|
NM_000016.6(ACADM):c.253G>C (p.Gly85Arg)
|
rs398123075
|
|
|
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter)
|
rs2525609535
|
|
|
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)
|
rs1553124735
|
|
|
NM_000018.4(ACADVL):c.1039del (p.Ala347fs)
|
rs2071295244
|
|
|
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)
|
rs776063244
|
|
|
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)
|
rs118204018
|
|
|
NM_000018.4(ACADVL):c.1269+1G>A
|
rs773401248
|
|
|
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
|
rs2071366876
|
|
|
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)
|
rs375284481
|
|
|
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)
|
rs796051920
|
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
|
NM_000019.4(ACAT1):c.824del (p.Asn275fs)
|
rs1163072872
|
|
|
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn)
|
rs1591371045
|
|
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
|
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter)
|
rs748810619
|
|
|
NM_000023.4(SGCA):c.271G>A (p.Gly91Ser)
|
rs890921874
|
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
|
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)
|
rs386833423
|
|
|
NM_000027.4(AGA):c.367_371del (p.Thr123fs)
|
rs1736928101
|
|
|
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)
|
rs121908521
|
|
|
NM_000030.3(AGXT):c.481G>C (p.Gly161Arg)
|
rs180177227
|
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
|
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)
|
rs200585150
|
|
|
NM_000038.6(APC):c.1002G>A (p.Leu334=)
|
rs928733098
|
|
|
NM_000038.6(APC):c.1005A>C (p.Leu335=)
|
rs3797704
|
|
|
NM_000038.6(APC):c.1020C>T (p.Ser340=)
|
rs1580528337
|
|
|
NM_000038.6(APC):c.102T>C (p.Leu34=)
|
rs1581122045
|
|
|
NM_000038.6(APC):c.1035A>T (p.Ile345=)
|
rs1057521594
|
|
|
NM_000038.6(APC):c.1038C>T (p.Ser346=)
|
rs2149780211
|
|
|
NM_000038.6(APC):c.1042C>T (p.Arg348Ter)
|
rs1314843920
|
|
|
NM_000038.6(APC):c.1044A>G (p.Arg348=)
|
rs772902822
|
|
|
NM_000038.6(APC):c.1053A>G (p.Gly351=)
|
rs1561541012
|
|
|
NM_000038.6(APC):c.105A>C (p.Thr35=)
|
rs1581122087
|
|
|
NM_000038.6(APC):c.1068C>T (p.Leu356=)
|
rs765876939
|
|
|
NM_000038.6(APC):c.1074G>A (p.Gln358=)
|
rs1580528988
|
|
|
NM_000038.6(APC):c.1077T>A (p.Leu359=)
|
rs1580529020
|
|
|
NM_000038.6(APC):c.1086C>G (p.Gly362=)
|
rs1762829914
|
|
|
NM_000038.6(APC):c.1101T>C (p.Ser367=)
|
rs1580529215
|
|
|
NM_000038.6(APC):c.1104A>G (p.Val368=)
|
rs752507116
|
|
|
NM_000038.6(APC):c.1108T>C (p.Leu370=)
|
rs1580529338
|
|
|
NM_000038.6(APC):c.1120C>A (p.Arg374=)
|
rs947634162
|
|
|
NM_000038.6(APC):c.1125C>T (p.Gly375=)
|
rs2149781450
|
|
|
NM_000038.6(APC):c.1131A>G (p.Lys377=)
|
rs2149781514
|
|
|
NM_000038.6(APC):c.1143C>A (p.Ala381=)
|
rs2149781680
|
|
|
NM_000038.6(APC):c.1143C>T (p.Ala381=)
|
rs2149781680
|
|
|
NM_000038.6(APC):c.1158A>C (p.Ala386=)
|
rs370669642
|
|
|
NM_000038.6(APC):c.1167C>T (p.Asn389=)
|
rs1424481501
|
|
|
NM_000038.6(APC):c.1179A>G (p.Ser393=)
|
rs876659399
|
|
|
NM_000038.6(APC):c.1185T>C (p.Pro395=)
|
rs2149782231
|
|
|
NM_000038.6(APC):c.1191_1192dup (p.Lys398fs)
|
rs2149782311
|
|
|
NM_000038.6(APC):c.1197A>G (p.Arg399=)
|
rs786202331
|
|
|
NM_000038.6(APC):c.1201A>C (p.Arg401=)
|
rs1580530476
|
|
|
NM_000038.6(APC):c.1203G>A (p.Arg401=)
|
rs587780589
|
|
|
NM_000038.6(APC):c.1213C>A (p.Arg405=)
|
rs587779780
|
|
|
NM_000038.6(APC):c.1236G>A (p.Gln412=)
|
rs1580530779
|
|
|
NM_000038.6(APC):c.123A>G (p.Ala41=)
|
rs1561445056
|
|
|
NM_000038.6(APC):c.1240del (p.Arg414fs)
|
rs1554080082
|
|
|
NM_000038.6(APC):c.1248C>T (p.Tyr416=)
|
rs2149783185
|
|
|
NM_000038.6(APC):c.1260T>C (p.Cys420=)
|
rs888081211
|
|
|
NM_000038.6(APC):c.1278T>C (p.Ala426=)
|
rs2149783641
|
|
|
NM_000038.6(APC):c.1281T>C (p.His427=)
|
rs770616197
|
|
|
NM_000038.6(APC):c.1284A>G (p.Glu428=)
|
rs1762869036
|
|
|
NM_000038.6(APC):c.1312+1G>A
|
rs863225310
|
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
|
NM_000038.6(APC):c.1313-10del
|
rs2533105222
|
|
|
NM_000038.6(APC):c.1320T>C (p.Ala440=)
|
rs2149791837
|
|
|
NM_000038.6(APC):c.1338C>A (p.Ile446=)
|
rs759703047
|
|
|
NM_000038.6(APC):c.135+5C>G
|
rs1754805687
|
|
|
NM_000038.6(APC):c.1350G>C (p.Val450=)
|
rs1554080701
|
|
|
NM_000038.6(APC):c.1353T>C (p.Cys451=)
|
rs1387916046
|
|
|
NM_000038.6(APC):c.1359A>T (p.Leu453=)
|
rs751945983
|
|
|
NM_000038.6(APC):c.136-1G>A
|
rs1554069481
|
|
|
NM_000038.6(APC):c.1383G>A (p.Glu461=)
|
rs1561546239
|
|
|
NM_000038.6(APC):c.1409-17T>G
|
rs764042245
|
|
|
NM_000038.6(APC):c.1409-1G>A
|
rs863225313
|
|
|
NM_000038.6(APC):c.1409-1G>C
|
rs863225313
|
|
|
NM_000038.6(APC):c.1409-1G>T
|
rs863225313
|
|
|
NM_000038.6(APC):c.1409-2A>C
|
rs1064794163
|
|
|
NM_000038.6(APC):c.1409-2_1409del
|
rs1554081631
|
|
|
NM_000038.6(APC):c.1416A>G (p.Leu472=)
|
rs1554081635
|
|
|
NM_000038.6(APC):c.1428A>T (p.Ala476=)
|
rs2149808707
|
|
|
NM_000038.6(APC):c.1435T>C (p.Leu479=)
|
rs780577693
|
|
|
NM_000038.6(APC):c.1437G>A (p.Leu479=)
|
rs1114167598
|
|
|
NM_000038.6(APC):c.1440A>G (p.Gln480=)
|
rs863224537
|
|
|
NM_000038.6(APC):c.1461G>A (p.Gly487=)
|
rs1554081682
|
|
|
NM_000038.6(APC):c.1467T>C (p.Thr489=)
|
rs2149809331
|
|
|
NM_000038.6(APC):c.1479C>T (p.Tyr493=)
|
rs1561553939
|
|
|
NM_000038.6(APC):c.1485T>C (p.Ile495=)
|
rs1472240007
|
|
|
NM_000038.6(APC):c.1491A>G (p.Leu497=)
|
rs201992951
|
|
|
NM_000038.6(APC):c.1497A>G (p.Arg499=)
|
rs2149809781
|
|
|
NM_000038.6(APC):c.1500T>C (p.Tyr500=)
|
rs387906230
|
|
|
NM_000038.6(APC):c.1503T>C (p.Ala501=)
|
rs201664378
|
|
|
NM_000038.6(APC):c.1503T>G (p.Ala501=)
|
rs201664378
|
|
|
NM_000038.6(APC):c.150A>G (p.Gln50=)
|
rs771884136
|
|
|
NM_000038.6(APC):c.1513T>C (p.Leu505=)
|
rs2149810029
|
|
|
NM_000038.6(APC):c.151C>T (p.Leu51=)
|
rs1554069497
|
|
|
NM_000038.6(APC):c.1530T>C (p.Phe510=)
|
rs1554081754
|
|
|
NM_000038.6(APC):c.1530dup (p.Gly511fs)
|
rs1554081749
|
|
|
NM_000038.6(APC):c.1548+10_1548+11insCTTGT
|
rs1763800247
|
|
|
NM_000038.6(APC):c.1548G>A (p.Lys516=)
|
rs879254090
|
|
|
NM_000038.6(APC):c.1560C>T (p.Cys520=)
|
rs1580568821
|
|
|
NM_000038.6(APC):c.156A>G (p.Gln52=)
|
rs1756319541
|
|
|
NM_000038.6(APC):c.1579A>C (p.Arg527=)
|
rs751120046
|
|
|
NM_000038.6(APC):c.1593C>G (p.Ala531=)
|
rs878853418
|
|
|
NM_000038.6(APC):c.1593C>T (p.Ala531=)
|
rs878853418
|
|
|
NM_000038.6(APC):c.1599A>G (p.Leu533=)
|
rs2149813778
|
|
|
NM_000038.6(APC):c.15A>C (p.Ser5=)
|
rs1554067106
|
|
|
NM_000038.6(APC):c.15A>G (p.Ser5=)
|
rs1554067106
|
|
|
NM_000038.6(APC):c.1629T>C (p.Val543=)
|
rs779848042
|
|
|
NM_000038.6(APC):c.1642T>C (p.Leu548=)
|
rs1060503373
|
|
|
NM_000038.6(APC):c.1647G>A (p.Arg549=)
|
rs1057521935
|
|
|
NM_000038.6(APC):c.1651T>C (p.Leu551=)
|
rs2533241903
|
|
|
NM_000038.6(APC):c.1653G>A (p.Leu551=)
|
rs2149817137
|
|
|
NM_000038.6(APC):c.1656T>G (p.Ser552=)
|
rs1554082105
|
|
|
NM_000038.6(APC):c.1689G>A (p.Leu563=)
|
rs2149817582
|
|
|
NM_000038.6(APC):c.168A>G (p.Glu56=)
|
rs1554069532
|
|
|
NM_000038.6(APC):c.1692A>C (p.Arg564=)
|
rs763295800
|
|
|
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer)
|
rs1554082135
|
|
|
NM_000038.6(APC):c.1710A>G (p.Lys570=)
|
rs1182822563
|
|
|
NM_000038.6(APC):c.171T>C (p.Asp57=)
|
rs770894012
|
|
|
NM_000038.6(APC):c.1737T>A (p.Val579=)
|
rs2149818517
|
|
|
NM_000038.6(APC):c.1737T>C (p.Val579=)
|
rs2149818517
|
|
|
NM_000038.6(APC):c.1743+5C>G
|
rs876658386
|
|
|
NM_000038.6(APC):c.1749A>C (p.Ser583=)
|
rs1580603138
|
|
|
NM_000038.6(APC):c.1752C>T (p.Thr584=)
|
rs1580603181
|
|
|
NM_000038.6(APC):c.1776A>G (p.Leu592=)
|
rs1554083127
|
|
|
NM_000038.6(APC):c.1806T>C (p.Asn602=)
|
rs2149841734
|
|
|
NM_000038.6(APC):c.1824T>C (p.Ala608=)
|
rs1455415709
|
|
|
NM_000038.6(APC):c.1833T>C (p.Gly611=)
|
rs1022354979
|
|
|
NM_000038.6(APC):c.1842A>G (p.Ala614=)
|
rs1057520424
|
|
|
NM_000038.6(APC):c.1851T>G (p.Val617=)
|
rs1554083163
|
|
|
NM_000038.6(APC):c.1857T>C (p.Thr619=)
|
rs1554083170
|
|
|
NM_000038.6(APC):c.1860T>A (p.Leu620=)
|
rs749754970
|
|
|
NM_000038.6(APC):c.186T>A (p.Ser62=)
|
rs2532273362
|
|
|
NM_000038.6(APC):c.1872C>T (p.Ser624=)
|
rs748550745
|
|
|
NM_000038.6(APC):c.1878A>G (p.Thr626=)
|
rs2149843208
|
|
|
NM_000038.6(APC):c.1879_1880del (p.Asn627fs)
|
rs2533339978
|
|
|
NM_000038.6(APC):c.1902T>G (p.Ser634Arg)
|
rs876659460
|
|
|
NM_000038.6(APC):c.1905A>G (p.Gly635=)
|
rs1580604886
|
|
|
NM_000038.6(APC):c.1908T>C (p.Gly636=)
|
rs79015778
|
|
|
NM_000038.6(APC):c.1908_1909dup (p.Gly637fs)
|
rs1764733583
|
|
|
NM_000038.6(APC):c.1923T>C (p.Asn641=)
|
rs1554083238
|
|
|
NM_000038.6(APC):c.1926G>A (p.Val642=)
|
rs1764737441
|
|
|
NM_000038.6(APC):c.1941T>A (p.Ala647=)
|
rs1554083247
|
|
|
NM_000038.6(APC):c.1958+11_1958+12del
|
rs1554083267
|
|
|
NM_000038.6(APC):c.1958+17A>G
|
rs753968575
|
|
|
NM_000038.6(APC):c.1958+23_1958+28del
|
rs2533346340
|
|
|
NM_000038.6(APC):c.1958+27del
|
rs1402242990
|
|
|
NM_000038.6(APC):c.1959-6T>C
|
rs2149857465
|
|
|
NM_000038.6(APC):c.195G>A (p.Gln65=)
|
rs1554069548
|
|
|
NM_000038.6(APC):c.1962A>G (p.Gln654=)
|
rs1057523515
|
|
|
NM_000038.6(APC):c.1966C>T (p.Leu656=)
|
rs577466163
|
|
|
NM_000038.6(APC):c.1974G>A (p.Glu658=)
|
rs747442953
|
|
|
NM_000038.6(APC):c.1980C>T (p.Asn660=)
|
rs1554083856
|
|
|
NM_000038.6(APC):c.1986A>G (p.Leu662=)
|
rs2149858182
|
|
|
NM_000038.6(APC):c.1989A>G (p.Gln663=)
|
rs864622539
|
|
|
NM_000038.6(APC):c.1992T>G (p.Thr664=)
|
rs2149858311
|
|
|
NM_000038.6(APC):c.1995A>G (p.Leu665=)
|
rs1023818848
|
|
|
NM_000038.6(APC):c.2001A>G (p.Gln667=)
|
rs1580617421
|
|
|
NM_000038.6(APC):c.2004C>T (p.His668=)
|
rs1380127485
|
|
|
NM_000038.6(APC):c.2016T>C (p.His672=)
|
rs1554083892
|
|
|
NM_000038.6(APC):c.2031C>T (p.Val677=)
|
rs769363082
|
|
|
NM_000038.6(APC):c.203del (p.Leu68fs)
|
rs1756331894
|
|
|
NM_000038.6(APC):c.2040A>C (p.Ala680=)
|
rs1276616448
|
|
|
NM_000038.6(APC):c.2040A>G (p.Ala680=)
|
rs1276616448
|
|
|
NM_000038.6(APC):c.2050T>C (p.Leu684=)
|
rs2149859493
|
|
|
NM_000038.6(APC):c.2054G>A (p.Trp685Ter)
|
rs2149859555
|
|
|
NM_000038.6(APC):c.2055G>A (p.Trp685Ter)
|
rs2149859582
|
|
|
NM_000038.6(APC):c.2085G>A (p.Gln695=)
|
rs2149860192
|
|
|
NM_000038.6(APC):c.2088A>G (p.Glu696=)
|
rs2149860260
|
|
|
NM_000038.6(APC):c.2094A>G (p.Leu698=)
|
rs1426881729
|
|
|
NM_000038.6(APC):c.210G>A (p.Glu70=)
|
rs761957941
|
|
|
NM_000038.6(APC):c.2124G>A (p.Lys708=)
|
rs1454608873
|
|
|
NM_000038.6(APC):c.2130C>T (p.Leu710=)
|
rs1057521787
|
|
|
NM_000038.6(APC):c.2139A>G (p.Ser713=)
|
rs1554083964
|
|
|
NM_000038.6(APC):c.2142G>A (p.Lys714=)
|
rs1561575161
|
|
|
NM_000038.6(APC):c.2145C>T (p.His715=)
|
rs1060504877
|
|
|
NM_000038.6(APC):c.2154T>A (p.Ile718=)
|
rs372725652
|
|
|
NM_000038.6(APC):c.216T>A (p.Leu72=)
|
rs1580324752
|
|
|
NM_000038.6(APC):c.216T>G (p.Leu72=)
|
rs1580324752
|
|
|
NM_000038.6(APC):c.2172A>T (p.Ala724=)
|
rs1580618948
|
|
|
NM_000038.6(APC):c.2176T>C (p.Leu726=)
|
rs2149862426
|
|
|
NM_000038.6(APC):c.2196T>C (p.Asn732=)
|
rs781693283
|
|
|
NM_000038.6(APC):c.21T>C (p.Asp7=)
|
rs2149737434
|
|
|
NM_000038.6(APC):c.220+1G>A
|
rs1554069570
|
|
|
NM_000038.6(APC):c.221-1G>A
|
rs863225327
|
|
|
NM_000038.6(APC):c.221-1G>C
|
rs863225327
|
|
|
NM_000038.6(APC):c.221-2A>G
|
rs786201291
|
|
|
NM_000038.6(APC):c.2211C>T (p.Tyr737=)
|
rs1765131004
|
|
|
NM_000038.6(APC):c.2223T>C (p.Asn741=)
|
rs1554084025
|
|
|
NM_000038.6(APC):c.2238C>T (p.Gly746=)
|
rs1304466462
|
|
|
NM_000038.6(APC):c.2240C>G (p.Ser747Ter)
|
rs773020689
|
|
|
NM_000038.6(APC):c.2245T>C (p.Leu749=)
|
rs976000214
|
|
|
NM_000038.6(APC):c.2259T>C (p.His753=)
|
rs763155470
|
|
|
NM_000038.6(APC):c.225T>C (p.Leu75=)
|
rs1756428442
|
|
|
NM_000038.6(APC):c.2262T>C (p.Val754=)
|
rs148987776
|
|
|
NM_000038.6(APC):c.2277C>G (p.Ala759=)
|
rs762441650
|
|
|
NM_000038.6(APC):c.2280A>T (p.Leu760=)
|
rs767947015
|
|
|
NM_000038.6(APC):c.2286A>G (p.Ala762=)
|
rs1424396565
|
|
|
NM_000038.6(APC):c.2292A>G (p.Leu764=)
|
rs1561575949
|
|
|
NM_000038.6(APC):c.2301G>A (p.Gln767=)
|
rs2149865790
|
|
|
NM_000038.6(APC):c.2307A>G (p.Leu769=)
|
rs1561576071
|
|
|
NM_000038.6(APC):c.2310A>G (p.Ser770=)
|
rs201019009
|
|
|
NM_000038.6(APC):c.2328A>C (p.Ile776=)
|
rs2149866464
|
|
|
NM_000038.6(APC):c.2331C>T (p.Asp777=)
|
rs1765155954
|
|
|
NM_000038.6(APC):c.2343C>G (p.Pro781=)
|
rs754449949
|
|
|
NM_000038.6(APC):c.2349A>G (p.Ala783=)
|
rs1580620884
|
|
|
NM_000038.6(APC):c.2352T>G (p.Ser784=)
|
rs2149867123
|
|
|
NM_000038.6(APC):c.2373C>T (p.His791=)
|
rs2149867589
|
|
|
NM_000038.6(APC):c.2379A>G (p.Gln793=)
|
rs1554084111
|
|
|
NM_000038.6(APC):c.2385_2386del (p.Tyr796fs)
|
rs1561576666
|
|
|
NM_000038.6(APC):c.2388T>C (p.Tyr796=)
|
rs1554084124
|
|
|
NM_000038.6(APC):c.2391T>A (p.Gly797=)
|
rs535294819
|
|
|
NM_000038.6(APC):c.2391T>C (p.Gly797=)
|
rs535294819
|
|
|
NM_000038.6(APC):c.2396_2397del (p.Tyr799fs)
|
rs2533418190
|
|
|
NM_000038.6(APC):c.2397T>C (p.Tyr799=)
|
rs1765170817
|
|
|
NM_000038.6(APC):c.2406C>T (p.Asp802=)
|
rs2149868534
|
|
|
NM_000038.6(APC):c.2427T>C (p.Asn809=)
|
rs1035293450
|
|
|
NM_000038.6(APC):c.2439T>C (p.Asn813=)
|
rs1554084165
|
|
|
NM_000038.6(APC):c.2448T>C (p.Thr816=)
|
rs2149869717
|
|
|
NM_000038.6(APC):c.2469A>G (p.Ser823=)
|
rs1765189659
|
|
|
NM_000038.6(APC):c.2472A>G (p.Pro824=)
|
rs746965994
|
|
|
NM_000038.6(APC):c.2475T>C (p.Tyr825=)
|
rs1554084195
|
|
|
NM_000038.6(APC):c.2476T>C (p.Leu826=)
|
rs145245264
|
|
|
NM_000038.6(APC):c.2478G>A (p.Leu826=)
|
rs1765191275
|
|
|
NM_000038.6(APC):c.2496C>T (p.Pro832=)
|
rs2149870996
|
|
|
NM_000038.6(APC):c.249T>G (p.Pro83=)
|
rs2149787783
|
|
|
NM_000038.6(APC):c.2505T>C (p.Ser835=)
|
rs905866396
|
|
|
NM_000038.6(APC):c.2508A>C (p.Ser836=)
|
rs1580623312
|
|
|
NM_000038.6(APC):c.2511A>C (p.Ser837=)
|
rs79909810
|
|
|
NM_000038.6(APC):c.2520C>T (p.Ser840=)
|
rs1460612068
|
|
|
NM_000038.6(APC):c.2523A>G (p.Leu841=)
|
rs1554084238
|
|
|
NM_000038.6(APC):c.2538T>A (p.Ser846=)
|
rs759201675
|
|
|
NM_000038.6(APC):c.2541A>G (p.Glu847=)
|
rs2149872002
|
|
|
NM_000038.6(APC):c.2544A>G (p.Lys848=)
|
rs764867930
|
|
|
NM_000038.6(APC):c.2548A>C (p.Arg850=)
|
rs1176934059
|
|
|
NM_000038.6(APC):c.2556G>A (p.Leu852=)
|
rs1580623889
|
|
|
NM_000038.6(APC):c.2565A>G (p.Glu855=)
|
rs763603183
|
|
|
NM_000038.6(APC):c.2568C>A (p.Arg856=)
|
rs751433216
|
|
|
NM_000038.6(APC):c.2571A>G (p.Gly857=)
|
rs1561578068
|
|
|
NM_000038.6(APC):c.2577T>C (p.Gly859=)
|
rs1561578087
|
|
|
NM_000038.6(APC):c.2580A>G (p.Leu860=)
|
rs2149872897
|
|
|
NM_000038.6(APC):c.2583C>A (p.Gly861=)
|
rs1580624343
|
|
|
NM_000038.6(APC):c.2586C>T (p.Asn862=)
|
rs147972247
|
|
|
NM_000038.6(APC):c.258A>G (p.Lys86=)
|
rs2149787881
|
|
|
NM_000038.6(APC):c.2622A>G (p.Ser874=)
|
rs1765225650
|
|
|
NM_000038.6(APC):c.2625G>A (p.Lys875=)
|
rs2149873941
|
|
|
NM_000038.6(APC):c.2632T>C (p.Leu878=)
|
rs1476958808
|
|
|
NM_000038.6(APC):c.2634G>A (p.Leu878=)
|
rs1160075832
|
|
|
NM_000038.6(APC):c.2637G>A (p.Gln879=)
|
rs763546422
|
|
|
NM_000038.6(APC):c.2640C>A (p.Ile880=)
|
rs200184105
|
|
|
NM_000038.6(APC):c.2643C>A (p.Ser881=)
|
rs2149874351
|
|
|
NM_000038.6(APC):c.264G>A (p.Arg88=)
|
rs1554069706
|
|
|
NM_000038.6(APC):c.2652A>T (p.Ala884=)
|
rs1554084343
|
|
|
NM_000038.6(APC):c.2655C>T (p.Ala885=)
|
rs1554084348
|
|
|
NM_000038.6(APC):c.2658G>A (p.Gln886=)
|
rs587780593
|
|
|
NM_000038.6(APC):c.2676A>G (p.Glu892=)
|
rs1580625658
|
|
|
NM_000038.6(APC):c.2677G>T (p.Glu893Ter)
|
rs199740875
|
|
|
NM_000038.6(APC):c.2684C>G (p.Ser895Ter)
|
rs2149875189
|
|
|
NM_000038.6(APC):c.2685A>C (p.Ser895=)
|
rs1554084377
|
|
|
NM_000038.6(APC):c.2685A>G (p.Ser895=)
|
rs1554084377
|
|
|
NM_000038.6(APC):c.2700T>C (p.Ser900=)
|
rs1554084399
|
|
|
NM_000038.6(APC):c.2703G>A (p.Gln901=)
|
rs2149875632
|
|
|
NM_000038.6(APC):c.2718T>C (p.Ser906=)
|
rs2149875934
|
|
|
NM_000038.6(APC):c.2730T>G (p.Thr910=)
|
rs2149876172
|
|
|
NM_000038.6(APC):c.2739T>C (p.His913=)
|
rs553363502
|
|
|
NM_000038.6(APC):c.2742T>C (p.Cys914=)
|
rs2149876401
|
|
|
NM_000038.6(APC):c.2760T>C (p.Asn920=)
|
rs1554084427
|
|
|
NM_000038.6(APC):c.2763A>T (p.Ala921=)
|
rs750259615
|
|
|
NM_000038.6(APC):c.276C>G (p.Ser92=)
|
rs369238363
|
|
|
NM_000038.6(APC):c.2775C>T (p.Ser925=)
|
rs864622701
|
|
|
NM_000038.6(APC):c.2787T>C (p.His929=)
|
rs1476420580
|
|
|
NM_000038.6(APC):c.2790A>G (p.Thr930=)
|
rs2149877460
|
|
|
NM_000038.6(APC):c.279C>T (p.Leu93=)
|
rs768492450
|
|
|
NM_000038.6(APC):c.2803dup (p.Tyr935fs)
|
rs2533450703
|
|
|
NM_000038.6(APC):c.2804dup (p.Tyr935Ter)
|
rs863225332
|
|
|
NM_000038.6(APC):c.2814T>C (p.Thr938=)
|
rs1554084501
|
|
|
NM_000038.6(APC):c.2817G>A (p.Lys939=)
|
rs756662900
|
|
|
NM_000038.6(APC):c.2829A>C (p.Ser943=)
|
rs1338601411
|
|
|
NM_000038.6(APC):c.282T>C (p.Arg94=)
|
rs1485825595
|
|
|
NM_000038.6(APC):c.2859A>G (p.Lys953=)
|
rs759348312
|
|
|
NM_000038.6(APC):c.2865A>G (p.Glu955=)
|
rs2149879057
|
|
|
NM_000038.6(APC):c.2868C>T (p.Tyr956=)
|
rs2149879114
|
|
|
NM_000038.6(APC):c.2871G>A (p.Lys957=)
|
rs1765285772
|
|
|
NM_000038.6(APC):c.2877T>C (p.Ser959=)
|
rs1580628428
|
|
|
NM_000038.6(APC):c.2883T>C (p.Asn961=)
|
rs1060503367
|
|
|
NM_000038.6(APC):c.2895T>C (p.Asn965=)
|
rs1269765079
|
|
|
NM_000038.6(APC):c.2901C>A (p.Val967=)
|
rs1060504876
|
|
|
NM_000038.6(APC):c.2904T>C (p.Ser968=)
|
rs1554084582
|
|
|
NM_000038.6(APC):c.2907_2911dup (p.Asp971fs)
|
rs2533458377
|
|
|
NM_000038.6(APC):c.2913T>C (p.Asp971=)
|
rs917767842
|
|
|
NM_000038.6(APC):c.2934A>G (p.Gln978=)
|
rs1765298867
|
|
|
NM_000038.6(APC):c.294C>T (p.Ser98=)
|
rs2149788328
|
|
|
NM_000038.6(APC):c.2952A>G (p.Glu984=)
|
rs772562489
|
|
|
NM_000038.6(APC):c.2955C>G (p.Ser985=)
|
rs2149881048
|
|
|
NM_000038.6(APC):c.295C>A (p.Arg99=)
|
rs139196838
|
|
|
NM_000038.6(APC):c.2979G>A (p.Lys993=)
|
rs2149881496
|
|
|
NM_000038.6(APC):c.2997A>G (p.Gln999=)
|
rs1554084635
|
|
|
NM_000038.6(APC):c.3015C>T (p.Ala1005=)
|
rs928401523
|
|
|
NM_000038.6(APC):c.3030T>C (p.Ser1010=)
|
rs1580630161
|
|
|
NM_000038.6(APC):c.303A>G (p.Gly101=)
|
rs1756452016
|
|
|
NM_000038.6(APC):c.3045T>C (p.Asp1015=)
|
rs1554084657
|
|
|
NM_000038.6(APC):c.3048T>C (p.Asp1016=)
|
rs2149883068
|
|
|
NM_000038.6(APC):c.3060A>G (p.Glu1020=)
|
rs1057522595
|
|
|
NM_000038.6(APC):c.3063A>G (p.Leu1021=)
|
rs2149883468
|
|
|
NM_000038.6(APC):c.3072A>G (p.Pro1024=)
|
rs1580630557
|
|
|
NM_000038.6(APC):c.3081T>C (p.Tyr1027=)
|
rs878853434
|
|
|
NM_000038.6(APC):c.3084T>C (p.Ser1028=)
|
rs876660265
|
|
|
NM_000038.6(APC):c.309A>G (p.Val103=)
|
rs863224279
|
|
|
NM_000038.6(APC):c.3102G>A (p.Glu1034=)
|
rs1580630877
|
|
|
NM_000038.6(APC):c.3117A>C (p.Gly1039=)
|
rs1580631098
|
|
|
NM_000038.6(APC):c.3117A>G (p.Gly1039=)
|
rs1580631098
|
|
|
NM_000038.6(APC):c.3120G>A (p.Arg1040=)
|
rs2149884761
|
|
|
NM_000038.6(APC):c.3133C>T (p.Gln1045Ter)
|
rs2149885099
|
|
|
NM_000038.6(APC):c.3150A>G (p.Ala1050=)
|
rs1554084742
|
|
|
NM_000038.6(APC):c.3151A>C (p.Arg1051=)
|
rs757981620
|
|
|
NM_000038.6(APC):c.315C>T (p.Ser105=)
|
rs2149788619
|
|
|
NM_000038.6(APC):c.3162C>T (p.His1054=)
|
rs1554084767
|
|
|
NM_000038.6(APC):c.3174T>C (p.Asp1058=)
|
rs1561582572
|
|
|
NM_000038.6(APC):c.3210T>C (p.Asn1070=)
|
rs886059794
|
|
|
NM_000038.6(APC):c.3219A>C (p.Thr1073=)
|
rs2149887167
|
|
|
NM_000038.6(APC):c.3224del (p.Tyr1075fs)
|
rs1765368708
|
|
|
NM_000038.6(APC):c.3240G>A (p.Glu1080=)
|
rs760005647
|
|
|
NM_000038.6(APC):c.3243C>T (p.Ser1081=)
|
rs1561583244
|
|
|
NM_000038.6(APC):c.3276T>C (p.His1092=)
|
rs1580633332
|
|
|
NM_000038.6(APC):c.3285G>A (p.Gln1095=)
|
rs1580633428
|
|
|
NM_000038.6(APC):c.3288G>A (p.Gln1096=)
|
rs1765383284
|
|
|
NM_000038.6(APC):c.3291A>G (p.Glu1097=)
|
rs2149888846
|
|
|
NM_000038.6(APC):c.3306C>T (p.Tyr1102=)
|
rs879254092
|
|
|
NM_000038.6(APC):c.330C>T (p.Cys110=)
|
rs1060504887
|
|
|
NM_000038.6(APC):c.3311C>A (p.Ser1104Ter)
|
rs1580633796
|
|
|
NM_000038.6(APC):c.3330A>C (p.Ser1110=)
|
rs2149889692
|
|
|
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)
|
rs121913331
|
|
|
NM_000038.6(APC):c.3357T>C (p.His1119=)
|
rs1554084963
|
|
|
NM_000038.6(APC):c.3366T>C (p.Asn1122=)
|
rs1765405918
|
|
|
NM_000038.6(APC):c.3372T>C (p.Asn1124=)
|
rs1345898742
|
|
|
NM_000038.6(APC):c.3378C>T (p.Ser1126=)
|
rs149353082
|
|
|
NM_000038.6(APC):c.3381G>A (p.Gln1127=)
|
rs1554084977
|
|
|
NM_000038.6(APC):c.3396A>G (p.Glu1132=)
|
rs1561584490
|
|
|
NM_000038.6(APC):c.3417G>A (p.Lys1139=)
|
rs2149891493
|
|
|
NM_000038.6(APC):c.3432T>C (p.Ser1144=)
|
rs2533497511
|
|
|
NM_000038.6(APC):c.3441C>T (p.Tyr1147=)
|
rs2149891970
|
|
|
NM_000038.6(APC):c.3456G>A (p.Gln1152=)
|
rs1018434615
|
|
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
|
NM_000038.6(APC):c.3468A>G (p.Glu1156=)
|
rs878853440
|
|
|
NM_000038.6(APC):c.3486T>C (p.Tyr1162=)
|
rs1580636096
|
|
|
NM_000038.6(APC):c.3498T>C (p.Tyr1166=)
|
rs2533503173
|
|
|
NM_000038.6(APC):c.3501T>C (p.Asn1167=)
|
rs1561585194
|
|
|
NM_000038.6(APC):c.3510A>G (p.Lys1170=)
|
rs786203746
|
|
|
NM_000038.6(APC):c.351A>C (p.Ser117=)
|
rs1294902871
|
|
|
NM_000038.6(APC):c.351A>G (p.Ser117=)
|
rs1294902871
|
|
|
NM_000038.6(APC):c.3537T>C (p.Tyr1179=)
|
rs1384420589
|
|
|
NM_000038.6(APC):c.3540T>C (p.Ser1180=)
|
rs2149893964
|
|
|
NM_000038.6(APC):c.3549T>C (p.Tyr1183=)
|
rs1561585641
|
|
|
NM_000038.6(APC):c.3564T>C (p.Pro1188=)
|
rs1367649227
|
|
|
NM_000038.6(APC):c.3576A>G (p.Lys1192=)
|
rs2149894727
|
|
|
NM_000038.6(APC):c.357A>G (p.Pro119=)
|
rs1306334779
|
|
|
NM_000038.6(APC):c.3588A>C (p.Ser1196=)
|
rs1765463829
|
|
|
NM_000038.6(APC):c.3591C>T (p.Phe1197=)
|
rs1765464418
|
|
|
NM_000038.6(APC):c.3594A>C (p.Ser1198=)
|
rs773494804
|
|
|
NM_000038.6(APC):c.3597G>A (p.Lys1199=)
|
rs1765466754
|
|
|
NM_000038.6(APC):c.3603A>G (p.Ser1201=)
|
rs760339669
|
|
|
NM_000038.6(APC):c.3609A>T (p.Gly1203=)
|
rs1554085177
|
|
|
NM_000038.6(APC):c.3612A>G (p.Gln1204=)
|
rs864622196
|
|
|
NM_000038.6(APC):c.3639A>G (p.Ser1213=)
|
rs1060504882
|
|
|
NM_000038.6(APC):c.3642del (p.Ser1214fs)
|
rs2149896180
|
|
|
NM_000038.6(APC):c.3654G>A (p.Thr1218=)
|
rs772743023
|
|
|
NM_000038.6(APC):c.3654G>T (p.Thr1218=)
|
rs772743023
|
|
|
NM_000038.6(APC):c.3657C>G (p.Ser1219=)
|
rs1001469995
|
|
|
NM_000038.6(APC):c.3663T>C (p.Pro1221=)
|
rs587780541
|
|
|
NM_000038.6(APC):c.3666A>T (p.Ser1222=)
|
rs1131691141
|
|
|
NM_000038.6(APC):c.3675C>G (p.Ala1225=)
|
rs759214956
|
|
|
NM_000038.6(APC):c.3675C>T (p.Ala1225=)
|
rs759214956
|
|
|
NM_000038.6(APC):c.3681G>A (p.Arg1227=)
|
rs942982122
|
|
|
NM_000038.6(APC):c.3687T>C (p.Asn1229=)
|
rs149045486
|
|
|
NM_000038.6(APC):c.3693C>T (p.Leu1231=)
|
rs1554085234
|
|
|
NM_000038.6(APC):c.3709_3710del (p.Gln1237fs)
|
rs1554085246
|
|
|
NM_000038.6(APC):c.3717A>G (p.Arg1239=)
|
rs1580639048
|
|
|
NM_000038.6(APC):c.3723T>C (p.Gly1241=)
|
rs2149897767
|
|
|
NM_000038.6(APC):c.3724C>T (p.Gln1242Ter)
|
rs1460397656
|
|
|
NM_000038.6(APC):c.3735G>A (p.Lys1245=)
|
rs1765505976
|
|
|
NM_000038.6(APC):c.3765C>T (p.Asn1255=)
|
rs876659957
|
|
|
NM_000038.6(APC):c.3771A>G (p.Glu1257=)
|
rs1554085294
|
|
|
NM_000038.6(APC):c.3774A>G (p.Thr1258=)
|
rs542928573
|
|
|
NM_000038.6(APC):c.3780G>A (p.Gln1260=)
|
rs763668164
|
|
|
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter)
|
rs863225345
|
|
|
NM_000038.6(APC):c.3787del (p.Cys1263fs)
|
rs2533524447
|
|
|
NM_000038.6(APC):c.3792A>G (p.Val1264=)
|
rs1765523305
|
|
|
NM_000038.6(APC):c.3801T>C (p.Thr1267=)
|
rs563358776
|
|
|
NM_000038.6(APC):c.3819A>G (p.Arg1273=)
|
rs1765530477
|
|
|
NM_000038.6(APC):c.3837T>G (p.Ser1279=)
|
rs1057522493
|
|
|
NM_000038.6(APC):c.3843A>G (p.Ser1281=)
|
rs2149900255
|
|
|
NM_000038.6(APC):c.3864A>G (p.Gly1288=)
|
rs2149900810
|
|
|
NM_000038.6(APC):c.3870T>C (p.Asn1290=)
|
rs758343243
|
|
|
NM_000038.6(APC):c.3873G>A (p.Gln1291=)
|
rs2149900974
|
|
|
NM_000038.6(APC):c.387A>G (p.Glu129=)
|
rs1554069832
|
|
|
NM_000038.6(APC):c.388del (p.Ser130fs)
|
rs1554069828
|
|
|
NM_000038.6(APC):c.3897T>C (p.Ala1299=)
|
rs1057521474
|
|
|
NM_000038.6(APC):c.3915A>G (p.Ala1305=)
|
rs2149901988
|
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
|
NM_000038.6(APC):c.393T>C (p.Thr131=)
|
rs775742850
|
|
|
NM_000038.6(APC):c.3942G>A (p.Arg1314=)
|
rs1315459181
|
|
|
NM_000038.6(APC):c.3951A>G (p.Glu1317=)
|
rs1183026416
|
|
|
NM_000038.6(APC):c.3957T>A (p.Pro1319=)
|
rs773123653
|
|
|
NM_000038.6(APC):c.3960G>A (p.Val1320=)
|
rs987999780
|
|
|
NM_000038.6(APC):c.396A>C (p.Gly132=)
|
rs1060504884
|
|
|
NM_000038.6(APC):c.396A>G (p.Gly132=)
|
rs1060504884
|
|
|
NM_000038.6(APC):c.3981A>C (p.Ser1327=)
|
rs1554085433
|
|
|
NM_000038.6(APC):c.3987C>T (p.His1329=)
|
rs2149903524
|
|
|
NM_000038.6(APC):c.3990T>A (p.Pro1330=)
|
rs758667746
|
|
|
NM_000038.6(APC):c.4009C>T (p.Leu1337=)
|
rs1554085448
|
|
|
NM_000038.6(APC):c.4011G>T (p.Leu1337=)
|
rs1765579898
|
|
|
NM_000038.6(APC):c.4017T>C (p.Gly1339=)
|
rs1554085461
|
|
|
NM_000038.6(APC):c.4020T>C (p.Ser1340=)
|
rs746379898
|
|
|
NM_000038.6(APC):c.4032A>C (p.Ser1344=)
|
rs756433996
|
|
|
NM_000038.6(APC):c.4041C>A (p.Ala1347=)
|
rs2149904805
|
|
|
NM_000038.6(APC):c.405A>G (p.Glu135=)
|
rs1554069842
|
|
|
NM_000038.6(APC):c.4065T>C (p.Ser1355=)
|
rs1580643558
|
|
|
NM_000038.6(APC):c.4068A>T (p.Ser1356=)
|
rs2149905525
|
|
|
NM_000038.6(APC):c.4074G>T (p.Ala1358=)
|
rs149782464
|
|
|
NM_000038.6(APC):c.4083C>G (p.Pro1361=)
|
rs1464598628
|
|
|
NM_000038.6(APC):c.4083C>T (p.Pro1361=)
|
rs1464598628
|
|
|
NM_000038.6(APC):c.4088A>T (p.Lys1363Ile)
|
rs373607243
|
|
|
NM_000038.6(APC):c.4095T>G (p.Gly1365=)
|
rs2149906319
|
|
|
NM_000038.6(APC):c.4098T>C (p.Ala1366=)
|
rs1035647216
|
|
|
NM_000038.6(APC):c.4107C>G (p.Pro1369=)
|
rs2149906668
|
|
|
NM_000038.6(APC):c.4107C>T (p.Pro1369=)
|
rs2149906668
|
|
|
NM_000038.6(APC):c.4119T>G (p.Pro1373=)
|
rs1248565162
|
|
|
NM_000038.6(APC):c.4125C>T (p.His1375=)
|
rs1060504880
|
|
|
NM_000038.6(APC):c.4127_4128del (p.Tyr1376fs)
|
rs1554085533
|
|
|
NM_000038.6(APC):c.4140C>G (p.Thr1380=)
|
rs754571230
|
|
|
NM_000038.6(APC):c.414G>A (p.Glu138=)
|
rs1554069845
|
|
|
NM_000038.6(APC):c.4155C>T (p.Ser1385=)
|
rs1554085568
|
|
|
NM_000038.6(APC):c.4164T>G (p.Thr1388=)
|
rs878853443
|
|
|
NM_000038.6(APC):c.4170C>T (p.Val1390=)
|
rs876659338
|
|
|
NM_000038.6(APC):c.4174del (p.Ser1392fs)
|
rs1765620003
|
|
|
NM_000038.6(APC):c.417A>G (p.Lys139=)
|
rs1554069848
|
|
|
NM_000038.6(APC):c.4182T>C (p.Asp1394=)
|
rs1765622006
|
|
|
NM_000038.6(APC):c.4185T>C (p.Ser1395=)
|
rs1561590472
|
|
|
NM_000038.6(APC):c.4200G>A (p.Ser1400=)
|
rs367782881
|
|
|
NM_000038.6(APC):c.4200G>C (p.Ser1400=)
|
rs367782881
|
|
|
NM_000038.6(APC):c.420G>C (p.Glu140Asp)
|
rs202161017
|
|
|
NM_000038.6(APC):c.4212C>T (p.Ser1404=)
|
rs144655979
|
|
|
NM_000038.6(APC):c.422+2T>C
|
rs879254169
|
|
|
NM_000038.6(APC):c.4222G>T (p.Glu1408Ter)
|
rs1554085632
|
|
|
NM_000038.6(APC):c.423-11A>G
|
rs1580358224
|
|
|
NM_000038.6(APC):c.423-3T>A
|
rs587782293
|
|
|
NM_000038.6(APC):c.423-3T>C
|
rs587782293
|
|
|
NM_000038.6(APC):c.423-8A>G
|
rs2149614206
|
|
|
NM_000038.6(APC):c.423-9A>G
|
rs1554071494
|
|
|
NM_000038.6(APC):c.4230C>A (p.Cys1410Ter)
|
rs2149909485
|
|
|
NM_000038.6(APC):c.4230C>T (p.Cys1410=)
|
rs2149909485
|
|
|
NM_000038.6(APC):c.4236A>C (p.Gly1412=)
|
rs2149909671
|
|
|
NM_000038.6(APC):c.4236A>T (p.Gly1412=)
|
rs2149909671
|
|
|
NM_000038.6(APC):c.4248C>T (p.Gly1416=)
|
rs1561590899
|
|
|
NM_000038.6(APC):c.4257C>T (p.Ser1419=)
|
rs2149910125
|
|
|
NM_000038.6(APC):c.4260C>A (p.Pro1420=)
|
rs770579741
|
|
|
NM_000038.6(APC):c.426A>G (p.Ser142=)
|
rs2149614407
|
|
|
NM_000038.6(APC):c.4284A>G (p.Gly1428=)
|
rs2149910792
|
|
|
NM_000038.6(APC):c.4287A>G (p.Gln1429=)
|
rs1765641681
|
|
|
NM_000038.6(APC):c.4317T>A (p.Pro1439=)
|
rs769586752
|
|
|
NM_000038.6(APC):c.4323A>T (p.Pro1441=)
|
rs923560245
|
|
|
NM_000038.6(APC):c.4326T>C (p.Pro1442=)
|
rs67622085
|
|
|
NM_000038.6(APC):c.432T>A (p.Leu144=)
|
rs2149614520
|
|
|
NM_000038.6(APC):c.4332A>G (p.Gln1444=)
|
rs748342378
|
|
|
NM_000038.6(APC):c.4383A>G (p.Glu1461=)
|
rs1561592054
|
|
|
NM_000038.6(APC):c.4386G>A (p.Lys1462=)
|
rs1057522179
|
|
|
NM_000038.6(APC):c.4389A>G (p.Arg1463=)
|
rs1765670761
|
|
|
NM_000038.6(APC):c.4392G>A (p.Glu1464=)
|
rs1561592147
|
|
|
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs)
|
rs387906234
|
|
|
NM_000038.6(APC):c.4416A>C (p.Val1472=)
|
rs773352404
|
|
|
NM_000038.6(APC):c.4440G>A (p.Gln1480=)
|
rs876659881
|
|
|
NM_000038.6(APC):c.4449A>G (p.Pro1483=)
|
rs1765683928
|
|
|
NM_000038.6(APC):c.4452T>C (p.Asp1484=)
|
rs1554085886
|
|
|
NM_000038.6(APC):c.4458T>C (p.Asp1486=)
|
rs2149915235
|
|
|
NM_000038.6(APC):c.4465T>C (p.Leu1489=)
|
rs1554085897
|
|
|
NM_000038.6(APC):c.4476C>T (p.Ala1492=)
|
rs2149915694
|
|
|
NM_000038.6(APC):c.4491A>G (p.Pro1497=)
|
rs904213754
|
|
|
NM_000038.6(APC):c.4491A>T (p.Pro1497=)
|
rs904213754
|
|
|
NM_000038.6(APC):c.4497A>G (p.Gly1499=)
|
rs2149916128
|
|
|
NM_000038.6(APC):c.4503T>C (p.Ser1501=)
|
rs1765696924
|
|
|
NM_000038.6(APC):c.4512C>G (p.Ser1504=)
|
rs999881274
|
|
|
NM_000038.6(APC):c.4518G>T (p.Leu1506=)
|
rs1554085932
|
|
|
NM_000038.6(APC):c.4521T>C (p.Ser1507=)
|
rs1060504885
|
|
|
NM_000038.6(APC):c.4524T>C (p.Ala1508=)
|
rs767025305
|
|
|
NM_000038.6(APC):c.4539G>A (p.Glu1513=)
|
rs1765705666
|
|
|
NM_000038.6(APC):c.4590A>G (p.Glu1530=)
|
rs1233687155
|
|
|
NM_000038.6(APC):c.45A>C (p.Ala15=)
|
rs2149737755
|
|
|
NM_000038.6(APC):c.4617A>C (p.Ser1539=)
|
rs1554086014
|
|
|
NM_000038.6(APC):c.4617A>G (p.Ser1539=)
|
rs1554086014
|
|
|
NM_000038.6(APC):c.4623G>A (p.Gln1541=)
|
rs369281524
|
|
|
NM_000038.6(APC):c.4644C>T (p.Asn1548=)
|
rs2149919882
|
|
|
NM_000038.6(APC):c.4647A>G (p.Gln1549=)
|
rs1580650685
|
|
|
NM_000038.6(APC):c.4659A>C (p.Ala1553=)
|
rs2149920334
|
|
|
NM_000038.6(APC):c.4668T>C (p.Thr1556=)
|
rs1554086074
|
|
|
NM_000038.6(APC):c.4683G>A (p.Lys1561=)
|
rs774900184
|
|
|
NM_000038.6(APC):c.4687C>T (p.Leu1563=)
|
rs1554086098
|
|
|
NM_000038.6(APC):c.4689A>C (p.Leu1563=)
|
rs1440495350
|
|
|
NM_000038.6(APC):c.4689A>G (p.Leu1563=)
|
rs1440495350
|
|
|
NM_000038.6(APC):c.468C>T (p.Asp156=)
|
rs752627126
|
|
|
NM_000038.6(APC):c.4690T>C (p.Leu1564=)
|
rs1009904304
|
|
|
NM_000038.6(APC):c.4695T>C (p.Asp1565=)
|
rs1561594772
|
|
|
NM_000038.6(APC):c.46C>T (p.Leu16=)
|
rs1057520603
|
|
|
NM_000038.6(APC):c.4704T>C (p.Asp1568=)
|
rs1554086117
|
|
|
NM_000038.6(APC):c.4707T>C (p.Asp1569=)
|
rs2149921724
|
|
|
NM_000038.6(APC):c.4710T>C (p.Asp1570=)
|
rs201764198
|
|
|
NM_000038.6(APC):c.4723C>T (p.Leu1575=)
|
rs1057523466
|
|
|
NM_000038.6(APC):c.4725A>G (p.Leu1575=)
|
rs1057523328
|
|
|
NM_000038.6(APC):c.4746C>T (p.Ala1582=)
|
rs2149922717
|
|
|
NM_000038.6(APC):c.474T>C (p.Tyr158=)
|
rs1060504891
|
|
|
NM_000038.6(APC):c.4752A>C (p.Pro1584=)
|
rs1554086150
|
|
|
NM_000038.6(APC):c.4752A>G (p.Pro1584=)
|
rs1554086150
|
|
|
NM_000038.6(APC):c.4755A>G (p.Thr1585=)
|
rs2149922960
|
|
|
NM_000038.6(APC):c.4758G>A (p.Lys1586=)
|
rs1060504890
|
|
|
NM_000038.6(APC):c.4761A>C (p.Ser1587=)
|
rs863224280
|
|
|
NM_000038.6(APC):c.4761A>G (p.Ser1587=)
|
rs863224280
|
|
|
NM_000038.6(APC):c.4764A>T (p.Ser1588=)
|
rs1554086165
|
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
|
NM_000038.6(APC):c.4767T>G (p.Arg1589=)
|
rs181255489
|
|
|
NM_000038.6(APC):c.476dup (p.Tyr159Ter)
|
rs878853451
|
|
|
NM_000038.6(APC):c.4770A>G (p.Lys1590=)
|
rs973476980
|
|
|
NM_000038.6(APC):c.4779G>A (p.Lys1593=)
|
rs1060504872
|
|
|
NM_000038.6(APC):c.4782A>G (p.Pro1594=)
|
rs2149923636
|
|
|
NM_000038.6(APC):c.4785C>T (p.Ala1595=)
|
rs201287984
|
|
|
NM_000038.6(APC):c.4797A>C (p.Ser1599=)
|
rs2149923978
|
|
|
NM_000038.6(APC):c.480T>C (p.Ala160=)
|
rs758296324
|
|
|
NM_000038.6(APC):c.4815G>A (p.Val1605=)
|
rs1060503313
|
|
|
NM_000038.6(APC):c.4818A>G (p.Ala1606=)
|
rs1561595697
|
|
|
NM_000038.6(APC):c.4827A>G (p.Pro1609=)
|
rs1398360614
|
|
|
NM_000038.6(APC):c.4836G>T (p.Leu1612=)
|
rs1765779549
|
|
|
NM_000038.6(APC):c.483A>G (p.Gln161=)
|
rs1554071578
|
|
|
NM_000038.6(APC):c.4842G>A (p.Val1614=)
|
rs919961971
|
|
|
NM_000038.6(APC):c.4863A>G (p.Gln1621=)
|
rs1561595977
|
|
|
NM_000038.6(APC):c.4866C>T (p.Asn1622=)
|
rs1765789672
|
|
|
NM_000038.6(APC):c.4867A>C (p.Arg1623=)
|
rs1057523581
|
|
|
NM_000038.6(APC):c.4869G>A (p.Arg1623=)
|
rs2149925981
|
|
|
NM_000038.6(APC):c.4870T>C (p.Leu1624=)
|
rs2149926015
|
|
|
NM_000038.6(APC):c.4884G>A (p.Lys1628=)
|
rs908764017
|
|
|
NM_000038.6(APC):c.4887T>C (p.His1629=)
|
rs2149926544
|
|
|
NM_000038.6(APC):c.4890T>G (p.Val1630=)
|
rs753384326
|
|
|
NM_000038.6(APC):c.48G>A (p.Leu16=)
|
rs2149737793
|
|
|
NM_000038.6(APC):c.4908T>C (p.Asp1636=)
|
rs1554086296
|
|
|
NM_000038.6(APC):c.4917A>G (p.Pro1639=)
|
rs1375316248
|
|
|
NM_000038.6(APC):c.4917A>T (p.Pro1639=)
|
rs1375316248
|
|
|
NM_000038.6(APC):c.4920G>C (p.Arg1640=)
|
rs1580654177
|
|
|
NM_000038.6(APC):c.492T>C (p.Asn164=)
|
rs1051740996
|
|
|
NM_000038.6(APC):c.4932T>G (p.Val1644=)
|
rs1554086321
|
|
|
NM_000038.6(APC):c.4941A>C (p.Thr1647=)
|
rs876660116
|
|
|
NM_000038.6(APC):c.4947A>C (p.Ile1649=)
|
rs1580654389
|
|
|
NM_000038.6(APC):c.4956C>T (p.Ser1652=)
|
rs1765812159
|
|
|
NM_000038.6(APC):c.4959A>G (p.Thr1653=)
|
rs2149928525
|
|
|
NM_000038.6(APC):c.495C>T (p.Leu165=)
|
rs1554071591
|
|
|
NM_000038.6(APC):c.4965A>C (p.Thr1655=)
|
rs863224282
|
|
|
NM_000038.6(APC):c.4965A>G (p.Thr1655=)
|
rs863224282
|
|
|
NM_000038.6(APC):c.4966_4967delinsAG (p.Ser1656=)
|
rs1765815215
|
|
|
NM_000038.6(APC):c.4971A>G (p.Leu1657=)
|
rs2149928876
|
|
|
NM_000038.6(APC):c.4978C>T (p.Leu1660=)
|
rs767271480
|
|
|
NM_000038.6(APC):c.4980A>G (p.Leu1660=)
|
rs863224283
|
|
|
NM_000038.6(APC):c.4983A>C (p.Thr1661=)
|
rs1765819907
|
|
|
NM_000038.6(APC):c.4986C>T (p.Ile1662=)
|
rs876658910
|
|
|
NM_000038.6(APC):c.4989A>G (p.Glu1663=)
|
rs863224284
|
|
|
NM_000038.6(APC):c.4992C>T (p.Ser1664=)
|
rs138743276
|
|
|
NM_000038.6(APC):c.4995T>C (p.Pro1665=)
|
rs2533613615
|
|
|
NM_000038.6(APC):c.5001T>A (p.Asn1667Lys)
|
rs1131691138
|
|
|
NM_000038.6(APC):c.5022A>G (p.Gly1674=)
|
rs1580655351
|
|
|
NM_000038.6(APC):c.5037A>G (p.Ala1679=)
|
rs1765833243
|
|
|
NM_000038.6(APC):c.503del (p.Arg168fs)
|
rs2149615791
|
|
|
NM_000038.6(APC):c.5043A>G (p.Ser1681=)
|
rs755065310
|
|
|
NM_000038.6(APC):c.5052T>C (p.Phe1684=)
|
rs1489564235
|
|
|
NM_000038.6(APC):c.5064T>C (p.Asp1688=)
|
rs1161046076
|
|
|
NM_000038.6(APC):c.5067C>G (p.Thr1689=)
|
rs1554086427
|
|
|
NM_000038.6(APC):c.5067C>T (p.Thr1689=)
|
rs1554086427
|
|
|
NM_000038.6(APC):c.5078A>G (p.Glu1693Gly)
|
rs533667536
|
|
|
NM_000038.6(APC):c.5097G>A (p.Glu1699=)
|
rs1561597648
|
|
|
NM_000038.6(APC):c.5106A>C (p.Gly1702=)
|
rs2533621358
|
|
|
NM_000038.6(APC):c.5115C>T (p.Thr1705=)
|
rs373698193
|
|
|
NM_000038.6(APC):c.5121T>C (p.Ser1707=)
|
rs2149932558
|
|
|
NM_000038.6(APC):c.5127C>G (p.Thr1709=)
|
rs2149932701
|
|
|
NM_000038.6(APC):c.5133T>C (p.Pro1711=)
|
rs764152659
|
|
|
NM_000038.6(APC):c.519T>C (p.Pro173=)
|
rs1323000561
|
|
|
NM_000038.6(APC):c.5205G>C (p.Gly1735=)
|
rs1580657367
|
|
|
NM_000038.6(APC):c.5208A>G (p.Lys1736=)
|
rs757577924
|
|
|
NM_000038.6(APC):c.5217G>A (p.Lys1739=)
|
rs1580657520
|
|
|
NM_000038.6(APC):c.5247G>A (p.Gln1749=)
|
rs1397709973
|
|
|
NM_000038.6(APC):c.5250C>T (p.Val1750=)
|
rs2229997
|
|
|
NM_000038.6(APC):c.5253G>A (p.Gln1751=)
|
rs1554086570
|
|
|
NM_000038.6(APC):c.5259A>G (p.Ala1753=)
|
rs2533632045
|
|
|
NM_000038.6(APC):c.5262T>A (p.Ser1754=)
|
rs876659812
|
|
|
NM_000038.6(APC):c.5265G>T (p.Ala1755=)
|
rs34506289
|
|
|
NM_000038.6(APC):c.5283C>T (p.Asn1761=)
|
rs933729249
|
|
|
NM_000038.6(APC):c.531+1G>A
|
rs876659973
|
|
|
NM_000038.6(APC):c.531+1G>C
|
rs876659973
|
|
|
NM_000038.6(APC):c.531+1G>T
|
rs876659973
|
|
|
NM_000038.6(APC):c.531+5G>A
|
rs587779798
|
|
|
NM_000038.6(APC):c.531+5G>C
|
rs587779798
|
|
|
NM_000038.6(APC):c.531+7A>G
|
rs2149616433
|
|
|
NM_000038.6(APC):c.5316A>G (p.Pro1772=)
|
rs1765922293
|
|
|
NM_000038.6(APC):c.5319T>A (p.Thr1773=)
|
rs563219702
|
|
|
NM_000038.6(APC):c.532-14_532-12del
|
rs765893314
|
|
|
NM_000038.6(APC):c.532-1G>A
|
rs1554072547
|
|
|
NM_000038.6(APC):c.532-2A>T
|
rs752152148
|
|
|
NM_000038.6(APC):c.532-8G>A
|
rs1060503323
|
|
|
NM_000038.6(APC):c.5325A>C (p.Pro1775=)
|
rs2149937554
|
|
|
NM_000038.6(APC):c.5328A>G (p.Val1776=)
|
rs2149937593
|
|
|
NM_000038.6(APC):c.5343A>G (p.Gln1781=)
|
rs2149937953
|
|
|
NM_000038.6(APC):c.5352A>G (p.Glu1784=)
|
rs2149938117
|
|
|
NM_000038.6(APC):c.5355T>C (p.Tyr1785=)
|
rs2149938166
|
|
|
NM_000038.6(APC):c.5361A>T (p.Thr1787=)
|
rs2149938317
|
|
|
NM_000038.6(APC):c.5367A>G (p.Val1789=)
|
rs1765934357
|
|
|
NM_000038.6(APC):c.537C>A (p.Ser179=)
|
rs149736402
|
|
|
NM_000038.6(APC):c.5382C>T (p.Asp1794=)
|
rs566370229
|
|
|
NM_000038.6(APC):c.538T>C (p.Leu180=)
|
rs1580379462
|
|
|
NM_000038.6(APC):c.5391T>C (p.Asn1797=)
|
rs2149938993
|
|
|
NM_000038.6(APC):c.5400T>C (p.Asn1800=)
|
rs376290290
|
|
|
NM_000038.6(APC):c.5409A>G (p.Arg1803=)
|
rs766679576
|
|
|
NM_000038.6(APC):c.540A>G (p.Leu180=)
|
rs2149639092
|
|
|
NM_000038.6(APC):c.5436G>A (p.Lys1812=)
|
rs746952584
|
|
|
NM_000038.6(APC):c.5460C>G (p.Ser1820=)
|
rs2149940725
|
|
|
NM_000038.6(APC):c.5478G>A (p.Lys1826=)
|
rs768922376
|
|
|
NM_000038.6(APC):c.5481C>A (p.Leu1827=)
|
rs774567729
|
|
|
NM_000038.6(APC):c.5481C>T (p.Leu1827=)
|
rs774567729
|
|
|
NM_000038.6(APC):c.5496T>C (p.Asp1832=)
|
rs1561600562
|
|
|
NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del)
|
rs587778029
|
|
|
NM_000038.6(APC):c.5502C>T (p.Val1834=)
|
rs1561600661
|
|
|
NM_000038.6(APC):c.5511T>C (p.Ser1837=)
|
rs754225941
|
|
|
NM_000038.6(APC):c.5520T>C (p.Phe1840=)
|
rs1765970267
|
|
|
NM_000038.6(APC):c.5556T>C (p.Thr1852=)
|
rs1765978234
|
|
|
NM_000038.6(APC):c.5556T>G (p.Thr1852=)
|
rs1765978234
|
|
|
NM_000038.6(APC):c.5559T>G (p.Pro1853=)
|
rs1407859071
|
|
|
NM_000038.6(APC):c.5568T>C (p.Phe1856=)
|
rs1580661426
|
|
|
NM_000038.6(APC):c.5572C>A (p.Arg1858=)
|
rs1270783041
|
|
|
NM_000038.6(APC):c.5577T>C (p.Asn1859=)
|
rs1561601173
|
|
|
NM_000038.6(APC):c.5593C>T (p.Leu1865=)
|
rs1064794887
|
|
|
NM_000038.6(APC):c.5613T>C (p.Asp1871=)
|
rs2149944607
|
|
|
NM_000038.6(APC):c.5628G>A (p.Arg1876=)
|
rs1064794942
|
|
|
NM_000038.6(APC):c.5634G>A (p.Lys1878=)
|
rs1580662013
|
|
|
NM_000038.6(APC):c.5659_5663del (p.Asn1887fs)
|
rs1554086854
|
|
|
NM_000038.6(APC):c.5661T>C (p.Asn1887=)
|
rs1766001708
|
|
|
NM_000038.6(APC):c.5667A>G (p.Glu1889=)
|
rs2149946016
|
|
|
NM_000038.6(APC):c.5669C>G (p.Ser1890Ter)
|
rs1554086862
|
|
|
NM_000038.6(APC):c.5673G>A (p.Glu1891=)
|
rs1554086868
|
|
|
NM_000038.6(APC):c.567G>A (p.Leu189=)
|
rs1554072586
|
|
|
NM_000038.6(APC):c.5691C>T (p.His1897=)
|
rs1766011377
|
|
|
NM_000038.6(APC):c.5694A>G (p.Thr1898=)
|
rs780923444
|
|
|
NM_000038.6(APC):c.5697A>G (p.Glu1899=)
|
rs1429224530
|
|
|
NM_000038.6(APC):c.5703C>G (p.Thr1901=)
|
rs1766016604
|
|
|
NM_000038.6(APC):c.5718A>G (p.Ser1906=)
|
rs1060504879
|
|
|
NM_000038.6(APC):c.5721T>C (p.Ala1907=)
|
rs2149947464
|
|
|
NM_000038.6(APC):c.5730A>G (p.Thr1910=)
|
rs2149947683
|
|
|
NM_000038.6(APC):c.5733A>G (p.Gln1911=)
|
rs1554086927
|
|
|
NM_000038.6(APC):c.5736T>G (p.Ala1912=)
|
rs1036907955
|
|
|
NM_000038.6(APC):c.5745G>A (p.Lys1915=)
|
rs201988789
|
|
|
NM_000038.6(APC):c.5757T>C (p.Asn1919=)
|
rs2149948420
|
|
|
NM_000038.6(APC):c.5763T>G (p.Gly1921=)
|
rs2149948571
|
|
|
NM_000038.6(APC):c.5793C>T (p.Ser1931=)
|
rs1580663971
|
|
|
NM_000038.6(APC):c.5799T>C (p.Phe1933=)
|
rs1048920936
|
|
|
NM_000038.6(APC):c.57G>A (p.Glu19=)
|
rs1754787495
|
|
|
NM_000038.6(APC):c.5802C>T (p.Pro1934=)
|
rs876658810
|
|
|
NM_000038.6(APC):c.5808A>G (p.Ser1936=)
|
rs2149949760
|
|
|
NM_000038.6(APC):c.5811C>G (p.Ser1937=)
|
rs2149949820
|
|
|
NM_000038.6(APC):c.5817C>T (p.Asp1939=)
|
rs1580664287
|
|
|
NM_000038.6(APC):c.5823A>C (p.Pro1941=)
|
rs770869007
|
|
|
NM_000038.6(APC):c.5832G>A (p.Gly1944=)
|
rs1286149699
|
|
|
NM_000038.6(APC):c.5838A>G (p.Ala1946=)
|
rs2149950539
|
|
|
NM_000038.6(APC):c.5850G>A (p.Lys1950=)
|
rs1554087034
|
|
|
NM_000038.6(APC):c.5865T>C (p.Ala1955=)
|
rs1060504868
|
|
|
NM_000038.6(APC):c.5877T>A (p.Thr1959=)
|
rs369899251
|
|
|
NM_000038.6(APC):c.5905C>T (p.Leu1969=)
|
rs2149952239
|
|
|
NM_000038.6(APC):c.5919T>C (p.Ser1973=)
|
rs1580665628
|
|
|
NM_000038.6(APC):c.5922C>T (p.Asp1974=)
|
rs1057522700
|
|
|
NM_000038.6(APC):c.5928C>T (p.Asp1976=)
|
rs1272676665
|
|
|
NM_000038.6(APC):c.5931A>G (p.Gln1977=)
|
rs975299630
|
|
|
NM_000038.6(APC):c.5934A>G (p.Glu1978=)
|
rs2149952850
|
|
|
NM_000038.6(APC):c.5936del (p.Asn1979fs)
|
rs863225368
|
|
|
NM_000038.6(APC):c.5940C>T (p.Asn1980=)
|
rs147598747
|
|
|
NM_000038.6(APC):c.5964A>G (p.Lys1988=)
|
rs1580666126
|
|
|
NM_000038.6(APC):c.5970T>C (p.Thr1990=)
|
rs2149953753
|
|
|
NM_000038.6(APC):c.5973G>A (p.Glu1991=)
|
rs1580666230
|
|
|
NM_000038.6(APC):c.5976C>G (p.Pro1992=)
|
rs768878237
|
|
|
NM_000038.6(APC):c.5985A>G (p.Ser1995=)
|
rs2149954214
|
|
|
NM_000038.6(APC):c.6006T>G (p.Pro2002=)
|
rs876658513
|
|
|
NM_000038.6(APC):c.6009A>G (p.Gln2003=)
|
rs1292898950
|
|
|
NM_000038.6(APC):c.6012A>G (p.Ala2004=)
|
rs1057521822
|
|
|
NM_000038.6(APC):c.6012A>T (p.Ala2004=)
|
rs1057521822
|
|
|
NM_000038.6(APC):c.6018C>G (p.Gly2006=)
|
rs1328658295
|
|
|
NM_000038.6(APC):c.6033A>G (p.Ser2011=)
|
rs750703971
|
|
|
NM_000038.6(APC):c.6033A>T (p.Ser2011=)
|
rs750703971
|
|
|
NM_000038.6(APC):c.6039T>C (p.His2013=)
|
rs1554087166
|
|
|
NM_000038.6(APC):c.6048T>C (p.Asp2016=)
|
rs2149955691
|
|
|
NM_000038.6(APC):c.606A>G (p.Glu202=)
|
rs878853460
|
|
|
NM_000038.6(APC):c.6081C>A (p.Leu2027=)
|
rs1316220949
|
|
|
NM_000038.6(APC):c.6087T>C (p.Ser2029=)
|
rs1554087193
|
|
|
NM_000038.6(APC):c.609A>G (p.Gln203=)
|
rs1060504874
|
|
|
NM_000038.6(APC):c.6102T>C (p.Ser2034=)
|
rs2149957033
|
|
|
NM_000038.6(APC):c.6112C>T (p.Leu2038=)
|
rs1433119360
|
|
|
NM_000038.6(APC):c.6117G>A (p.Leu2039=)
|
rs372418435
|
|
|
NM_000038.6(APC):c.6126T>C (p.Cys2042=)
|
rs2149957726
|
|
|
NM_000038.6(APC):c.6132C>T (p.Ser2044=)
|
rs1554087237
|
|
|
NM_000038.6(APC):c.6156G>A (p.Lys2052=)
|
rs1580668268
|
|
|
NM_000038.6(APC):c.6162A>G (p.Ser2054=)
|
rs776160547
|
|
|
NM_000038.6(APC):c.6168C>T (p.Leu2056=)
|
rs878853461
|
|
|
NM_000038.6(APC):c.6177T>C (p.Asp2059=)
|
rs2149958958
|
|
|
NM_000038.6(APC):c.6180T>C (p.Asn2060=)
|
rs2149959039
|
|
|
NM_000038.6(APC):c.6186A>G (p.Lys2062=)
|
rs1064796527
|
|
|
NM_000038.6(APC):c.6189T>C (p.His2063=)
|
rs1580668553
|
|
|
NM_000038.6(APC):c.618C>A (p.Thr206=)
|
rs1554072631
|
|
|
NM_000038.6(APC):c.618C>T (p.Thr206=)
|
rs1554072631
|
|
|
NM_000038.6(APC):c.6195C>G (p.Pro2065=)
|
rs2149959395
|
|
|
NM_000038.6(APC):c.6201T>C (p.Asn2067=)
|
rs876659306
|
|
|
NM_000038.6(APC):c.6207T>C (p.Gly2069=)
|
rs1580668745
|
|
|
NM_000038.6(APC):c.6222A>G (p.Glu2074=)
|
rs1284434276
|
|
|
NM_000038.6(APC):c.6231A>C (p.Thr2077=)
|
rs1580668899
|
|
|
NM_000038.6(APC):c.6234T>C (p.Leu2078=)
|
rs1766168375
|
|
|
NM_000038.6(APC):c.6246T>C (p.Asp2082=)
|
rs920756837
|
|
|
NM_000038.6(APC):c.6264A>G (p.Ser2088=)
|
rs2149960978
|
|
|
NM_000038.6(APC):c.6273T>C (p.Gly2091=)
|
rs368356944
|
|
|
NM_000038.6(APC):c.6273T>G (p.Gly2091=)
|
rs368356944
|
|
|
NM_000038.6(APC):c.6274C>T (p.Leu2092=)
|
rs930830740
|
|
|
NM_000038.6(APC):c.6279C>T (p.Ser2093=)
|
rs876659090
|
|
|
NM_000038.6(APC):c.627T>C (p.Asp209=)
|
rs1373069696
|
|
|
NM_000038.6(APC):c.6297T>C (p.Phe2099=)
|
rs2149961723
|
|
|
NM_000038.6(APC):c.6300T>C (p.Asp2100=)
|
rs2149961786
|
|
|
NM_000038.6(APC):c.6315G>A (p.Gln2105=)
|
rs1561606468
|
|
|
NM_000038.6(APC):c.6336A>G (p.Val2112=)
|
rs1766189212
|
|
|
NM_000038.6(APC):c.633A>G (p.Glu211=)
|
rs2532490399
|
|
|
NM_000038.6(APC):c.6345A>G (p.Leu2115=)
|
rs1561606585
|
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
|
NM_000038.6(APC):c.6360T>A (p.Ala2120=)
|
rs2149963150
|
|
|
NM_000038.6(APC):c.6366A>G (p.Ala2122=)
|
rs370948574
|
|
|
NM_000038.6(APC):c.636A>G (p.Lys212=)
|
rs2149641068
|
|
|
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter)
|
rs1057517568
|
|
|
NM_000038.6(APC):c.6375T>C (p.Ser2125=)
|
rs1580670194
|
|
|
NM_000038.6(APC):c.637C>T (p.Arg213Ter)
|
rs587781392
|
|
|
NM_000038.6(APC):c.6384T>A (p.Ala2128=)
|
rs1580670325
|
|
|
NM_000038.6(APC):c.6387G>C (p.Ser2129=)
|
rs374310157
|
|
|
NM_000038.6(APC):c.6387G>T (p.Ser2129=)
|
rs374310157
|
|
|
NM_000038.6(APC):c.6396A>G (p.Ser2132=)
|
rs1554087396
|
|
|
NM_000038.6(APC):c.6405C>T (p.Ile2135=)
|
rs2149964138
|
|
|
NM_000038.6(APC):c.6414G>A (p.Leu2138=)
|
rs1554087414
|
|
|
NM_000038.6(APC):c.642A>C (p.Ala214=)
|
rs1580380453
|
|
|
NM_000038.6(APC):c.6438A>G (p.Ser2146=)
|
rs2149964916
|
|
|
NM_000038.6(APC):c.6441A>G (p.Pro2147=)
|
rs1321804619
|
|
|
NM_000038.6(APC):c.6447T>C (p.His2149=)
|
rs1580670835
|
|
|
NM_000038.6(APC):c.645+1G>A
|
rs863225370
|
|
|
NM_000038.6(APC):c.645+1G>C
|
rs863225370
|
|
|
NM_000038.6(APC):c.645+1G>T
|
rs863225370
|
|
|
NM_000038.6(APC):c.646-2A>C
|
rs777848503
|
|
|
NM_000038.6(APC):c.6471A>G (p.Lys2157=)
|
rs1554087444
|
|
|
NM_000038.6(APC):c.6474C>A (p.Pro2158=)
|
rs772027192
|
|
|
NM_000038.6(APC):c.6474C>G (p.Pro2158=)
|
rs772027192
|
|
|
NM_000038.6(APC):c.6474C>T (p.Pro2158=)
|
rs772027192
|
|
|
NM_000038.6(APC):c.6474del (p.Phe2159fs)
|
rs1561607463
|
|
|
NM_000038.6(APC):c.6477T>C (p.Phe2159=)
|
rs1057521225
|
|
|
NM_000038.6(APC):c.6480A>C (p.Thr2160=)
|
rs1554087452
|
|
|
NM_000038.6(APC):c.6486T>C (p.Asn2162=)
|
rs776869030
|
|
|
NM_000038.6(APC):c.6495A>C (p.Pro2165=)
|
rs2149966196
|
|
|
NM_000038.6(APC):c.6510A>G (p.Pro2170=)
|
rs138571760
|
|
|
NM_000038.6(APC):c.6519A>G (p.Lys2173=)
|
rs1483070589
|
|
|
NM_000038.6(APC):c.6537A>G (p.Lys2179=)
|
rs775795102
|
|
|
NM_000038.6(APC):c.6549T>G (p.Ser2183=)
|
rs876659728
|
|
|
NM_000038.6(APC):c.6558A>G (p.Lys2186=)
|
rs1766244713
|
|
|
NM_000038.6(APC):c.6561A>C (p.Gly2187=)
|
rs2149967586
|
|
|
NM_000038.6(APC):c.6567A>G (p.Lys2189=)
|
rs2149967740
|
|
|
NM_000038.6(APC):c.6576A>G (p.Lys2192=)
|
rs876659760
|
|
|
NM_000038.6(APC):c.6621A>G (p.Ser2207=)
|
rs1057521923
|
|
|
NM_000038.6(APC):c.6627T>A (p.Ile2209=)
|
rs2149969232
|
|
|
NM_000038.6(APC):c.6633C>G (p.Gly2211=)
|
rs2149969403
|
|
|
NM_000038.6(APC):c.6652C>T (p.Gln2218Ter)
|
rs2149969843
|
|
|
NM_000038.6(APC):c.6687A>T (p.Thr2229=)
|
rs2149970679
|
|
|
NM_000038.6(APC):c.6696T>C (p.His2232=)
|
rs903180919
|
|
|
NM_000038.6(APC):c.6699T>C (p.Ile2233=)
|
rs1057521840
|
|
|
NM_000038.6(APC):c.6709C>A (p.Arg2237=)
|
rs768922431
|
|
|
NM_000038.6(APC):c.6717C>T (p.Ser2239=)
|
rs1580673845
|
|
|
NM_000038.6(APC):c.6720C>G (p.Ser2240=)
|
rs2149971468
|
|
|
NM_000038.6(APC):c.6723A>G (p.Ser2241=)
|
rs748105555
|
|
|
NM_000038.6(APC):c.6729A>C (p.Thr2243=)
|
rs761296130
|
|
|
NM_000038.6(APC):c.6729A>G (p.Thr2243=)
|
rs761296130
|
|
|
NM_000038.6(APC):c.672C>A (p.Ile224=)
|
rs367816013
|
|
|
NM_000038.6(APC):c.6759T>A (p.Leu2253=)
|
rs1554087705
|
|
|
NM_000038.6(APC):c.6759T>G (p.Leu2253=)
|
rs1554087705
|
|
|
NM_000038.6(APC):c.6765T>G (p.Thr2255=)
|
rs2533741444
|
|
|
NM_000038.6(APC):c.6771C>T (p.Ala2257=)
|
rs1060504893
|
|
|
NM_000038.6(APC):c.6780C>T (p.Ser2260=)
|
rs1170405641
|
|
|
NM_000038.6(APC):c.6783T>C (p.Pro2261=)
|
rs767285988
|
|
|
NM_000038.6(APC):c.6789A>G (p.Glu2263=)
|
rs1057521959
|
|
|
NM_000038.6(APC):c.6813T>C (p.Pro2271=)
|
rs1057520427
|
|
|
NM_000038.6(APC):c.681C>T (p.Asp227=)
|
rs1060503359
|
|
|
NM_000038.6(APC):c.6834G>A (p.Val2278=)
|
rs1580675277
|
|
|
NM_000038.6(APC):c.684A>T (p.Ile228=)
|
rs1057521466
|
|
|
NM_000038.6(APC):c.6852T>C (p.Pro2284=)
|
rs1428908199
|
|
|
NM_000038.6(APC):c.6852T>G (p.Pro2284=)
|
rs1428908199
|
|
|
NM_000038.6(APC):c.6855T>C (p.Val2285=)
|
rs1057524550
|
|
|
NM_000038.6(APC):c.6855T>G (p.Val2285=)
|
rs1057524550
|
|
|
NM_000038.6(APC):c.6873A>G (p.Gln2291=)
|
rs148878262
|
|
|
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg)
|
rs544549596
|
|
|
NM_000038.6(APC):c.6909A>T (p.Gly2303=)
|
rs2533753251
|
|
|
NM_000038.6(APC):c.6912T>C (p.Ser2304=)
|
rs1210017216
|
|
|
NM_000038.6(APC):c.6921G>C (p.Ser2307=)
|
rs2229993
|
|
|
NM_000038.6(APC):c.6924C>A (p.Thr2308=)
|
rs1580676369
|
|
|
NM_000038.6(APC):c.6924C>T (p.Thr2308=)
|
rs1580676369
|
|
|
NM_000038.6(APC):c.6931A>C (p.Arg2311=)
|
rs878853467
|
|
|
NM_000038.6(APC):c.6933A>G (p.Arg2311=)
|
rs752834820
|
|
|
NM_000038.6(APC):c.6936T>C (p.Pro2312=)
|
rs1580676516
|
|
|
NM_000038.6(APC):c.6942G>A (p.Gln2314=)
|
rs786203722
|
|
|
NM_000038.6(APC):c.694C>T (p.Arg232Ter)
|
rs397515734
|
|
|
NM_000038.6(APC):c.6966G>A (p.Gln2322=)
|
rs786204171
|
|
|
NM_000038.6(APC):c.6975C>T (p.Gly2325=)
|
rs2149977432
|
|
|
NM_000038.6(APC):c.6993T>C (p.Pro2331=)
|
rs1580677177
|
|
|
NM_000038.6(APC):c.7014T>C (p.Pro2338=)
|
rs1561611983
|
|
|
NM_000038.6(APC):c.7017T>C (p.Pro2339=)
|
rs761268806
|
|
|
NM_000038.6(APC):c.7026A>G (p.Leu2342=)
|
rs766086022
|
|
|
NM_000038.6(APC):c.702T>C (p.Leu234=)
|
rs1554074779
|
|
|
NM_000038.6(APC):c.7038A>G (p.Pro2346=)
|
rs1580677722
|
|
|
NM_000038.6(APC):c.703T>C (p.Leu235=)
|
rs750221991
|
|
|
NM_000038.6(APC):c.7044A>G (p.Thr2348=)
|
rs1057520428
|
|
|
NM_000038.6(APC):c.7047A>T (p.Ser2349=)
|
rs1274342268
|
|
|
NM_000038.6(APC):c.7053T>C (p.Pro2351=)
|
rs2149979026
|
|
|
NM_000038.6(APC):c.7059T>C (p.Thr2353=)
|
rs1054356903
|
|
|
NM_000038.6(APC):c.7059T>G (p.Thr2353=)
|
rs1054356903
|
|
|
NM_000038.6(APC):c.7074C>T (p.Ser2358=)
|
rs1554087974
|
|
|
NM_000038.6(APC):c.7086A>T (p.Gly2362=)
|
rs780439042
|
|
|
NM_000038.6(APC):c.7089A>G (p.Lys2363=)
|
rs864622761
|
|
|
NM_000038.6(APC):c.7110T>G (p.Gly2370=)
|
rs1554088015
|
|
|
NM_000038.6(APC):c.711C>G (p.Ser237=)
|
rs758646398
|
|
|
NM_000038.6(APC):c.7122C>T (p.Ser2374=)
|
rs1554088024
|
|
|
NM_000038.6(APC):c.714A>G (p.Gln238=)
|
rs1580424332
|
|
|
NM_000038.6(APC):c.7155C>T (p.Ser2385=)
|
rs2149981130
|
|
|
NM_000038.6(APC):c.715G>C (p.Ala239Pro)
|
rs777760565
|
|
|
NM_000038.6(APC):c.7161T>C (p.Asn2387=)
|
rs1580679289
|
|
|
NM_000038.6(APC):c.7164C>A (p.Ala2388=)
|
rs1554088092
|
|
|
NM_000038.6(APC):c.7164C>T (p.Ala2388=)
|
rs1554088092
|
|
|
NM_000038.6(APC):c.7197A>G (p.Lys2399=)
|
rs1580679717
|
|
|
NM_000038.6(APC):c.7200A>G (p.Gly2400=)
|
rs1766408359
|
|
|
NM_000038.6(APC):c.7215T>C (p.Asn2405=)
|
rs1040589307
|
|
|
NM_000038.6(APC):c.7221T>G (p.Gly2407=)
|
rs1554088138
|
|
|
NM_000038.6(APC):c.7239G>A (p.Lys2413=)
|
rs773598516
|
|
|
NM_000038.6(APC):c.723A>G (p.Glu241=)
|
rs1302603852
|
|
|
NM_000038.6(APC):c.7245A>G (p.Glu2415=)
|
rs1554088172
|
|
|
NM_000038.6(APC):c.7260T>C (p.Ser2420=)
|
rs755501155
|
|
|
NM_000038.6(APC):c.7266T>A (p.Thr2422=)
|
rs554878484
|
|
|
NM_000038.6(APC):c.726A>G (p.Ala242=)
|
rs1580424505
|
|
|
NM_000038.6(APC):c.7272A>G (p.Ser2424=)
|
rs1554088209
|
|
|
NM_000038.6(APC):c.730-3C>T
|
rs786203125
|
|
|
NM_000038.6(APC):c.7300del (p.Arg2434fs)
|
rs2533783025
|
|
|
NM_000038.6(APC):c.7305T>C (p.Pro2435=)
|
rs1580681028
|
|
|
NM_000038.6(APC):c.7308A>G (p.Val2436=)
|
rs1220693522
|
|
|
NM_000038.6(APC):c.7326T>A (p.Thr2442=)
|
rs1766448918
|
|
|
NM_000038.6(APC):c.7335A>G (p.Lys2445=)
|
rs1554088258
|
|
|
NM_000038.6(APC):c.7347C>T (p.Ser2449=)
|
rs2149985043
|
|
|
NM_000038.6(APC):c.7357A>C (p.Arg2453=)
|
rs1580681532
|
|
|
NM_000038.6(APC):c.735A>C (p.Ser245=)
|
rs876659397
|
|
|
NM_000038.6(APC):c.7366T>C (p.Leu2456=)
|
rs1192175221
|
|
|
NM_000038.6(APC):c.7380T>C (p.Ala2460=)
|
rs1060504889
|
|
|
NM_000038.6(APC):c.7380T>G (p.Ala2460=)
|
rs1060504889
|
|
|
NM_000038.6(APC):c.7383A>G (p.Ser2461=)
|
rs2149985770
|
|
|
NM_000038.6(APC):c.7389A>G (p.Glu2463=)
|
rs587782127
|
|
|
NM_000038.6(APC):c.7395_7398del (p.Ser2466fs)
|
rs1580682001
|
|
|
NM_000038.6(APC):c.7404A>T (p.Ser2468=)
|
rs863224287
|
|
|
NM_000038.6(APC):c.7419T>A (p.Ser2473=)
|
rs1035582477
|
|
|
NM_000038.6(APC):c.7425T>C (p.Thr2475=)
|
rs1554088347
|
|
|
NM_000038.6(APC):c.7434G>A (p.Gln2478=)
|
rs1766476194
|
|
|
NM_000038.6(APC):c.7443T>C (p.Thr2481=)
|
rs147757080
|
|
|
NM_000038.6(APC):c.7446A>C (p.Pro2482=)
|
rs780091029
|
|
|
NM_000038.6(APC):c.744C>T (p.Asn248=)
|
rs747634179
|
|
|
NM_000038.6(APC):c.7467_7468dup (p.Asp2490fs)
|
rs1554088383
|
|
|
NM_000038.6(APC):c.7470T>C (p.Asp2490=)
|
rs1766486824
|
|
|
NM_000038.6(APC):c.7476T>C (p.Ser2492=)
|
rs2149987860
|
|
|
NM_000038.6(APC):c.7477_7478del (p.Leu2493fs)
|
rs1554088391
|
|
|
NM_000038.6(APC):c.7479A>T (p.Leu2493=)
|
rs775954189
|
|
|
NM_000038.6(APC):c.7489dup (p.Ser2497fs)
|
rs1409414498
|
|
|
NM_000038.6(APC):c.7491G>C (p.Ser2497=)
|
rs776327733
|
|
|
NM_000038.6(APC):c.7491G>T (p.Ser2497=)
|
rs776327733
|
|
|
NM_000038.6(APC):c.7497T>C (p.Val2499=)
|
rs1554088406
|
|
|
NM_000038.6(APC):c.7500G>A (p.Gln2500=)
|
rs1766496160
|
|
|
NM_000038.6(APC):c.7509A>G (p.Gly2503=)
|
rs1580683429
|
|
|
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)
|
rs755046558
|
|
|
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)
|
rs79630786
|
|
|
NM_000038.6(APC):c.7521C>G (p.Leu2507=)
|
rs1580683631
|
|
|
NM_000038.6(APC):c.7521C>T (p.Leu2507=)
|
rs1580683631
|
|
|
NM_000038.6(APC):c.7524A>G (p.Pro2508=)
|
rs2149988898
|
|
|
NM_000038.6(APC):c.7524A>T (p.Pro2508=)
|
rs2149988898
|
|
|
NM_000038.6(APC):c.7536T>C (p.Ser2512=)
|
rs587780604
|
|
|
NM_000038.6(APC):c.753A>G (p.Glu251=)
|
rs1554076143
|
|
|
NM_000038.6(APC):c.7543A>G (p.Ile2515Val)
|
rs554356011
|
|
|
NM_000038.6(APC):c.7548G>A (p.Glu2516=)
|
rs548471464
|
|
|
NM_000038.6(APC):c.7557T>C (p.Asp2519=)
|
rs864622391
|
|
|
NM_000038.6(APC):c.756C>G (p.Thr252=)
|
rs771535363
|
|
|
NM_000038.6(APC):c.7575C>A (p.Arg2525=)
|
rs767974190
|
|
|
NM_000038.6(APC):c.7590G>A (p.Arg2530=)
|
rs2149990208
|
|
|
NM_000038.6(APC):c.7593T>G (p.Ser2531=)
|
rs1580684522
|
|
|
NM_000038.6(APC):c.759C>T (p.Gly253=)
|
rs746850663
|
|
|
NM_000038.6(APC):c.75A>G (p.Gln25=)
|
rs876659361
|
|
|
NM_000038.6(APC):c.7602A>G (p.Glu2534=)
|
rs1580684642
|
|
|
NM_000038.6(APC):c.7626T>C (p.Asn2542=)
|
rs1114167553
|
|
|
NM_000038.6(APC):c.762A>G (p.Ser254=)
|
rs2149711683
|
|
|
NM_000038.6(APC):c.7638C>T (p.Thr2546=)
|
rs1320719611
|
|
|
NM_000038.6(APC):c.7644A>G (p.Lys2548=)
|
rs1210531698
|
|
|
NM_000038.6(APC):c.7647T>A (p.Arg2549=)
|
rs748729919
|
|
|
NM_000038.6(APC):c.7653C>T (p.His2551=)
|
rs1248219316
|
|
|
NM_000038.6(APC):c.7671C>G (p.Ser2557=)
|
rs1580685454
|
|
|
NM_000038.6(APC):c.7678C>T (p.Arg2560Ter)
|
rs1580685528
|
|
|
NM_000038.6(APC):c.7680A>T (p.Arg2560=)
|
rs2149991851
|
|
|
NM_000038.6(APC):c.7686C>T (p.Ser2562=)
|
rs1580685620
|
|
|
NM_000038.6(APC):c.7689T>C (p.Thr2563=)
|
rs2149991964
|
|
|
NM_000038.6(APC):c.768T>C (p.Asp256=)
|
rs764268036
|
|
|
NM_000038.6(APC):c.7695A>G (p.Arg2565=)
|
rs2149992067
|
|
|
NM_000038.6(APC):c.7696A>C (p.Arg2566=)
|
rs1060504883
|
|
|
NM_000038.6(APC):c.7704A>C (p.Gly2568=)
|
rs35043160
|
|
|
NM_000038.6(APC):c.771T>G (p.Ala257=)
|
rs1554076169
|
|
|
NM_000038.6(APC):c.7743T>C (p.Ser2581=)
|
rs1291847947
|
|
|
NM_000038.6(APC):c.7752A>G (p.Ala2584=)
|
rs2149993168
|
|
|
NM_000038.6(APC):c.775C>A (p.Arg259=)
|
rs762117133
|
|
|
NM_000038.6(APC):c.7767A>G (p.Glu2589=)
|
rs1391922278
|
|
|
NM_000038.6(APC):c.7773T>C (p.His2591=)
|
rs754977173
|
|
|
NM_000038.6(APC):c.7779C>T (p.Asn2593=)
|
rs1425732484
|
|
|
NM_000038.6(APC):c.777G>A (p.Arg259=)
|
rs147704593
|
|
|
NM_000038.6(APC):c.777G>C (p.Arg259=)
|
rs147704593
|
|
|
NM_000038.6(APC):c.7782T>G (p.Ser2594=)
|
rs1580686545
|
|
|
NM_000038.6(APC):c.7794C>G (p.Thr2598=)
|
rs1554088662
|
|
|
NM_000038.6(APC):c.7794C>T (p.Thr2598=)
|
rs1554088662
|
|
|
NM_000038.6(APC):c.7798_7801del (p.Gln2600fs)
|
rs1561618361
|
|
|
NM_000038.6(APC):c.780G>A (p.Gln260=)
|
rs2149711950
|
|
|
NM_000038.6(APC):c.7818A>C (p.Val2606=)
|
rs1221514715
|
|
|
NM_000038.6(APC):c.7818A>G (p.Val2606=)
|
rs1221514715
|
|
|
NM_000038.6(APC):c.7837A>C (p.Arg2613=)
|
rs1580687107
|
|
|
NM_000038.6(APC):c.7849_7853del (p.Lys2616_Glu2617insTer)
|
rs1309569258
|
|
|
NM_000038.6(APC):c.7866C>G (p.Pro2622=)
|
rs1580687418
|
|
|
NM_000038.6(APC):c.7869A>G (p.Thr2623=)
|
rs775126492
|
|
|
NM_000038.6(APC):c.7881T>G (p.Ser2627=)
|
rs2149995423
|
|
|
NM_000038.6(APC):c.7884G>A (p.Gln2628=)
|
rs1554088722
|
|
|
NM_000038.6(APC):c.7887C>G (p.Thr2629=)
|
rs754051042
|
|
|
NM_000038.6(APC):c.7887C>T (p.Thr2629=)
|
rs754051042
|
|
|
NM_000038.6(APC):c.7893C>T (p.Ser2631=)
|
rs876659640
|
|
|
NM_000038.6(APC):c.7896A>G (p.Ser2632=)
|
rs779015041
|
|
|
NM_000038.6(APC):c.7896A>T (p.Ser2632=)
|
rs779015041
|
|
|
NM_000038.6(APC):c.78G>A (p.Glu26=)
|
rs1561444861
|
|
|
NM_000038.6(APC):c.7905A>G (p.Thr2635=)
|
rs1580687958
|
|
|
NM_000038.6(APC):c.7914T>G (p.Ala2638=)
|
rs758440266
|
|
|
NM_000038.6(APC):c.7920A>G (p.Ser2640=)
|
rs1766599566
|
|
|
NM_000038.6(APC):c.7923G>A (p.Lys2641=)
|
rs2149996252
|
|
|
NM_000038.6(APC):c.7926T>A (p.Thr2642=)
|
rs932271698
|
|
|
NM_000038.6(APC):c.7927_7928del (p.Leu2643fs)
|
rs1766600757
|
|
|
NM_000038.6(APC):c.7928dup (p.Ile2644fs)
|
rs2533830101
|
|
|
NM_000038.6(APC):c.7929A>C (p.Leu2643=)
|
rs138796072
|
|
|
NM_000038.6(APC):c.7929A>T (p.Leu2643=)
|
rs138796072
|
|
|
NM_000038.6(APC):c.7932T>C (p.Ile2644=)
|
rs781734502
|
|
|
NM_000038.6(APC):c.7938A>G (p.Gln2646=)
|
rs1580688401
|
|
|
NM_000038.6(APC):c.7944A>T (p.Ala2648=)
|
rs1554088776
|
|
|
NM_000038.6(APC):c.7953T>C (p.Val2651=)
|
rs1580688611
|
|
|
NM_000038.6(APC):c.7964_7965del (p.Glu2655fs)
|
rs2149997043
|
|
|
NM_000038.6(APC):c.7968T>C (p.Asp2656=)
|
rs1580688744
|
|
|
NM_000038.6(APC):c.7977G>C (p.Val2659=)
|
rs1392424178
|
|
|
NM_000038.6(APC):c.7980A>G (p.Arg2660=)
|
rs2149997334
|
|
|
NM_000038.6(APC):c.7989C>T (p.Asp2663=)
|
rs1580688943
|
|
|
NM_000038.6(APC):c.7995C>T (p.Pro2665=)
|
rs1554088819
|
|
|
NM_000038.6(APC):c.79C>T (p.Leu27=)
|
rs786202128
|
|
|
NM_000038.6(APC):c.8007T>C (p.Pro2669=)
|
rs1766621353
|
|
|
NM_000038.6(APC):c.8007T>G (p.Pro2669=)
|
rs1766621353
|
|
|
NM_000038.6(APC):c.8017A>C (p.Arg2673=)
|
rs767286063
|
|
|
NM_000038.6(APC):c.8043G>A (p.Pro2681=)
|
rs149347068
|
|
|
NM_000038.6(APC):c.8049T>A (p.Ile2683=)
|
rs1580689538
|
|
|
NM_000038.6(APC):c.804A>G (p.Glu268=)
|
rs970071415
|
|
|
NM_000038.6(APC):c.8052C>T (p.Asp2684=)
|
rs1260063954
|
|
|
NM_000038.6(APC):c.8055T>C (p.Ser2685=)
|
rs2149998568
|
|
|
NM_000038.6(APC):c.8079C>T (p.Asn2693=)
|
rs1766638656
|
|
|
NM_000038.6(APC):c.807C>A (p.Ile269=)
|
rs1000878850
|
|
|
NM_000038.6(APC):c.807C>T (p.Ile269=)
|
rs1000878850
|
|
|
NM_000038.6(APC):c.8082T>A (p.Ile2694=)
|
rs2149998938
|
|
|
NM_000038.6(APC):c.8090C>G (p.Ser2697Ter)
|
rs1253561626
|
|
|
NM_000038.6(APC):c.8091A>G (p.Ser2697=)
|
rs2149999087
|
|
|
NM_000038.6(APC):c.8106A>G (p.Ala2702=)
|
rs1554088899
|
|
|
NM_000038.6(APC):c.8106A>T (p.Ala2702=)
|
rs1554088899
|
|
|
NM_000038.6(APC):c.8118G>A (p.Val2706=)
|
rs1580690209
|
|
|
NM_000038.6(APC):c.8118G>C (p.Val2706=)
|
rs1580690209
|
|
|
NM_000038.6(APC):c.8127C>G (p.Gly2709=)
|
rs1060504871
|
|
|
NM_000038.6(APC):c.8130T>C (p.Ser2710=)
|
rs78176192
|
|
|
NM_000038.6(APC):c.8133T>C (p.Val2711=)
|
rs1489637060
|
|
|
NM_000038.6(APC):c.8148G>A (p.Val2716=)
|
rs1158207177
|
|
|
NM_000038.6(APC):c.8148G>C (p.Val2716=)
|
rs1158207177
|
|
|
NM_000038.6(APC):c.8163C>G (p.Arg2721=)
|
rs2150000245
|
|
|
NM_000038.6(APC):c.8166G>C (p.Leu2722=)
|
rs768031368
|
|
|
NM_000038.6(APC):c.8172C>G (p.Ser2724=)
|
rs2150000409
|
|
|
NM_000038.6(APC):c.8178T>A (p.Ile2726=)
|
rs1561621219
|
|
|
NM_000038.6(APC):c.8184G>A (p.Val2728=)
|
rs1766673977
|
|
|
NM_000038.6(APC):c.8196C>T (p.Asp2732=)
|
rs1554088957
|
|
|
NM_000038.6(APC):c.81A>C (p.Leu27=)
|
rs759312196
|
|
|
NM_000038.6(APC):c.8208T>C (p.Thr2736=)
|
rs786201421
|
|
|
NM_000038.6(APC):c.8208T>G (p.Thr2736=)
|
rs786201421
|
|
|
NM_000038.6(APC):c.8220A>G (p.Pro2740=)
|
rs773180005
|
|
|
NM_000038.6(APC):c.822T>C (p.Ser274=)
|
rs776589022
|
|
|
NM_000038.6(APC):c.8235T>C (p.Pro2745=)
|
rs786201446
|
|
|
NM_000038.6(APC):c.8238C>T (p.Val2746=)
|
rs1554088993
|
|
|
NM_000038.6(APC):c.8241T>G (p.Pro2747=)
|
rs1060504875
|
|
|
NM_000038.6(APC):c.8244A>G (p.Val2748=)
|
rs1422980338
|
|
|
NM_000038.6(APC):c.8247A>G (p.Ser2749=)
|
rs953342697
|
|
|
NM_000038.6(APC):c.8256T>C (p.Asn2752=)
|
rs1580691816
|
|
|
NM_000038.6(APC):c.8265T>C (p.Ser2755=)
|
rs756633556
|
|
|
NM_000038.6(APC):c.8265T>G (p.Ser2755=)
|
rs756633556
|
|
|
NM_000038.6(APC):c.8277T>C (p.Arg2759=)
|
rs1057523814
|
|
|
NM_000038.6(APC):c.8280C>T (p.Thr2760=)
|
rs1554089045
|
|
|
NM_000038.6(APC):c.8283A>T (p.Pro2761=)
|
rs1393043478
|
|
|
NM_000038.6(APC):c.8292T>C (p.Ser2764=)
|
rs2533857770
|
|
|
NM_000038.6(APC):c.8301A>C (p.Ser2767=)
|
rs2150002792
|
|
|
NM_000038.6(APC):c.8310C>T (p.His2770=)
|
rs200160084
|
|
|
NM_000038.6(APC):c.8316A>G (p.Ser2772=)
|
rs1554089062
|
|
|
NM_000038.6(APC):c.8319T>G (p.Pro2773=)
|
rs587780539
|
|
|
NM_000038.6(APC):c.831T>C (p.Gly277=)
|
rs2149712555
|
|
|
NM_000038.6(APC):c.8328T>A (p.Thr2776=)
|
rs776639348
|
|
|
NM_000038.6(APC):c.8328T>C (p.Thr2776=)
|
rs776639348
|
|
|
NM_000038.6(APC):c.834+5A>G
|
rs2149712663
|
|
|
NM_000038.6(APC):c.8349T>G (p.Pro2783=)
|
rs1468974374
|
|
|
NM_000038.6(APC):c.8373G>A (p.Arg2791=)
|
rs1554089081
|
|
|
NM_000038.6(APC):c.8376A>G (p.Lys2792=)
|
rs1766725841
|
|
|
NM_000038.6(APC):c.8385A>G (p.Ala2795=)
|
rs1766728712
|
|
|
NM_000038.6(APC):c.8397A>G (p.Ser2799=)
|
rs2150004626
|
|
|
NM_000038.6(APC):c.8415C>T (p.Ile2805=)
|
rs2150004945
|
|
|
NM_000038.6(APC):c.8430T>C (p.Asn2810=)
|
rs1057522374
|
|
|
NM_000038.6(APC):c.8433C>T (p.Asn2811=)
|
rs864622247
|
|
|
NM_000038.6(APC):c.8439A>C (p.Thr2813=)
|
rs864622211
|
|
|
NM_000038.6(APC):c.8439A>G (p.Thr2813=)
|
rs864622211
|
|
|
NM_000038.6(APC):c.8442G>A (p.Lys2814=)
|
rs1267993620
|
|
|
NM_000038.6(APC):c.8448A>G (p.Arg2816=)
|
rs1580693799
|
|
|
NM_000038.6(APC):c.8454C>T (p.Ser2818=)
|
rs1766752417
|
|
|
NM_000038.6(APC):c.8463C>T (p.Asp2821=)
|
rs2150005832
|
|
|
NM_000038.6(APC):c.8469A>G (p.Thr2823=)
|
rs2150005928
|
|
|
NM_000038.6(APC):c.846A>G (p.Thr282=)
|
rs1554079134
|
|
|
NM_000038.6(APC):c.8472A>G (p.Glu2824=)
|
rs904461634
|
|
|
NM_000038.6(APC):c.8475C>T (p.Ser2825=)
|
rs2150006013
|
|
|
NM_000038.6(APC):c.8481A>G (p.Gly2827=)
|
rs1554089192
|
|
|
NM_000038.6(APC):c.8484C>G (p.Thr2828=)
|
rs864622473
|
|
|
NM_000038.6(APC):c.8487A>G (p.Gln2829=)
|
rs1766760123
|
|
|
NM_000038.6(APC):c.8490T>C (p.Ser2830=)
|
rs1554089197
|
|
|
NM_000038.6(APC):c.8493T>C (p.Pro2831=)
|
rs2150006377
|
|
|
NM_000038.6(APC):c.849A>G (p.Arg283=)
|
rs878853478
|
|
|
NM_000038.6(APC):c.8517T>C (p.Leu2839=)
|
rs1276286382
|
|
|
NM_000038.6(APC):c.8523A>G (p.Thr2841=)
|
rs753003333
|
|
|
NM_000038.6(APC):c.8523A>T (p.Thr2841=)
|
rs753003333
|
|
|
NM_000038.6(APC):c.8529T>A (p.Val2843=)
|
rs2533874526
|
|
|
NM_000038.6(APC):c.858T>C (p.His286=)
|
rs876659340
|
|
|
NM_000038.6(APC):c.864A>G (p.Thr288=)
|
rs1580511694
|
|
|
NM_000038.6(APC):c.864A>T (p.Thr288=)
|
rs1580511694
|
|
|
NM_000038.6(APC):c.867C>G (p.Ala289=)
|
rs2149762899
|
|
|
NM_000038.6(APC):c.867C>T (p.Ala289=)
|
rs2149762899
|
|
|
NM_000038.6(APC):c.870T>C (p.Ser290=)
|
rs863224289
|
|
|
NM_000038.6(APC):c.878del (p.Ser293fs)
|
rs1580511939
|
|
|
NM_000038.6(APC):c.891A>G (p.Thr297=)
|
rs2149763411
|
|
|
NM_000038.6(APC):c.903T>A (p.Pro301=)
|
rs1554079205
|
|
|
NM_000038.6(APC):c.904C>T (p.Arg302Ter)
|
rs137854568
|
|
|
NM_000038.6(APC):c.909G>A (p.Arg303=)
|
rs1580512337
|
|
|
NM_000038.6(APC):c.915A>G (p.Thr305=)
|
rs1762428447
|
|
|
NM_000038.6(APC):c.922C>T (p.Leu308=)
|
rs993695568
|
|
|
NM_000038.6(APC):c.924G>A (p.Leu308=)
|
rs1060504873
|
|
|
NM_000038.6(APC):c.930C>G (p.Thr310=)
|
rs2149764113
|
|
|
NM_000038.6(APC):c.936G>A (p.Val312=)
|
rs766950362
|
|
|
NM_000038.6(APC):c.945G>A (p.Val315=)
|
rs1580527576
|
|
|
NM_000038.6(APC):c.951A>G (p.Ser317=)
|
rs970626019
|
|
|
NM_000038.6(APC):c.955T>C (p.Leu319=)
|
rs2149778929
|
|
|
NM_000038.6(APC):c.960A>G (p.Ser320=)
|
rs1580527718
|
|
|
NM_000038.6(APC):c.975T>C (p.His325=)
|
rs1196721514
|
|
|
NM_000038.6(APC):c.993G>T (p.Ser331=)
|
rs148343173
|
|
|
NM_000038.6(APC):c.9A>G (p.Ala3=)
|
rs1554067101
|
|
|
NM_000048.4(ASL):c.603-1G>C
|
rs1584028936
|
|
|
NM_000049.4(ASPA):c.456_459del (p.Cys152fs)
|
rs2543624410
|
|
|
NM_000049.4(ASPA):c.580C>T (p.Gln194Ter)
|
rs1482032907
|
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
|
NM_000051.4(ATM):c.1017del (p.Ile339fs)
|
rs1469427343
|
|
|
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)
|
rs1565375817
|
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
|
NM_000051.4(ATM):c.1066-2A>G
|
rs1555069514
|
|
|
NM_000051.4(ATM):c.1068T>G (p.Val356=)
|
rs1462038794
|
|
|
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
|
rs2497207173
|
|
|
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
|
rs2497211032
|
|
|
NM_000051.4(ATM):c.121A>T (p.Lys41Ter)
|
rs1060501672
|
|
|
NM_000051.4(ATM):c.1236-2A>G
|
rs80159221
|
|
|
NM_000051.4(ATM):c.1333del (p.Gln445fs)
|
rs1060501701
|
|
|
NM_000051.4(ATM):c.1367del (p.Leu456fs)
|
rs1555070832
|
|
|
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs)
|
rs1555070947
|
|
|
NM_000051.4(ATM):c.154G>T (p.Gly52Ter)
|
rs730881362
|
|
|
NM_000051.4(ATM):c.15del (p.Asn6fs)
|
rs876660842
|
|
|
NM_000051.4(ATM):c.15dup (p.Asn6Ter)
|
rs876660842
|
|
|
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)
|
rs886039644
|
|
|
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)
|
rs1057516721
|
|
|
NM_000051.4(ATM):c.1772dup (p.Asn591fs)
|
rs1591528248
|
|
|
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer)
|
rs2080230745
|
|
|
NM_000051.4(ATM):c.1880dup (p.Gln628fs)
|
rs786202474
|
|
|
NM_000051.4(ATM):c.1881C>T (p.Phe627=)
|
rs1555072574
|
|
|
NM_000051.4(ATM):c.1882C>T (p.Gln628Ter)
|
rs2135354813
|
|
|
NM_000051.4(ATM):c.1902A>G (p.Glu634=)
|
rs1060501633
|
|
|
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)
|
rs1555073111
|
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
|
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)
|
rs754033733
|
|
|
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter)
|
rs769338089
|
|
|
NM_000051.4(ATM):c.2125-12del
|
rs1555074807
|
|
|
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)
|
rs1555074976
|
|
|
NM_000051.4(ATM):c.2250+4G>A
|
rs1565395217
|
|
|
NM_000051.4(ATM):c.2262del (p.Gln754fs)
|
rs2080573967
|
|
|
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)
|
rs730881348
|
|
|
NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)
|
rs730881348
|
|
|
NM_000051.4(ATM):c.2456del (p.Cys819fs)
|
rs2135422280
|
|
|
NM_000051.4(ATM):c.2466+1G>A
|
rs914092098
|
|
|
NM_000051.4(ATM):c.2466+1del
|
rs786202783
|
|
|
NM_000051.4(ATM):c.24G>A (p.Leu8=)
|
rs1555053888
|
|
|
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter)
|
rs876660430
|
|
|
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer)
|
rs2081303007
|
|
|
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter)
|
rs2081303434
|
|
|
NM_000051.4(ATM):c.2524dup (p.Thr842fs)
|
rs1555082160
|
|
|
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter)
|
rs886039633
|
|
|
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)
|
rs1565416901
|
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
|
NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter)
|
rs2081381578
|
|
|
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)
|
rs1064794437
|
|
|
NM_000051.4(ATM):c.2754del (p.Phe918fs)
|
rs786202608
|
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
|
NM_000051.4(ATM):c.2921+1G>T
|
rs587781558
|
|
|
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer)
|
rs1060501600
|
|
|
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)
|
rs1555085210
|
|
|
NM_000051.4(ATM):c.3077+9A>G
|
rs2135555296
|
|
|
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)
|
rs587782103
|
|
|
NM_000051.4(ATM):c.3113dup (p.Arg1039fs)
|
rs2497712869
|
|
|
NM_000051.4(ATM):c.3154-1G>A
|
rs1555085973
|
|
|
NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)
|
rs1565428419
|
|
|
NM_000051.4(ATM):c.3206del (p.Pro1069fs)
|
rs1060501677
|
|
|
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)
|
rs1060501587
|
|
|
NM_000051.4(ATM):c.3281del (p.Asn1094fs)
|
rs776516754
|
|
|
NM_000051.4(ATM):c.3284+8dup
|
rs886047611
|
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
|
NM_000051.4(ATM):c.331+5G>A
|
rs752135143
|
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
|
NM_000051.4(ATM):c.3352del (p.Thr1118fs)
|
rs2082120435
|
|
|
NM_000051.4(ATM):c.340del (p.Arg114fs)
|
rs2497016267
|
|
|
NM_000051.4(ATM):c.3422del (p.Pro1141fs)
|
rs2546869322
|
|
|
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer)
|
rs1555091238
|
|
|
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer)
|
rs1555091370
|
|
|
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs)
|
rs1555091367
|
|
|
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)
|
rs886039637
|
|
|
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs)
|
rs1555093289
|
|
|
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter)
|
rs2082374257
|
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
|
NM_000051.4(ATM):c.3841del (p.Ser1281fs)
|
rs886039621
|
|
|
NM_000051.4(ATM):c.3852del (p.Asp1285fs)
|
rs886039605
|
|
|
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)
|
rs2546887130
|
|
|
NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)
|
rs2135707910
|
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
|
NM_000051.4(ATM):c.392C>G (p.Ser131Ter)
|
rs1363726955
|
|
|
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)
|
rs876659672
|
|
|
NM_000051.4(ATM):c.3937G>T (p.Glu1313Ter)
|
rs3092841
|
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
|
NM_000051.4(ATM):c.3952del (p.Val1318fs)
|
rs1591646354
|
|
|
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)
|
rs587782192
|
|
|
NM_000051.4(ATM):c.3993+1G>T
|
rs200196781
|
|
|
NM_000051.4(ATM):c.4000_4006del (p.His1334fs)
|
rs2135735093
|
|
|
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)
|
rs1057517140
|
|
|
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)
|
rs876658248
|
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
|
NM_000051.4(ATM):c.4110-1G>A
|
rs1060501692
|
|
|
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)
|
rs141087784
|
|
|
NM_000051.4(ATM):c.4161dup (p.Ala1388fs)
|
rs2546904297
|
|
|
NM_000051.4(ATM):c.4227del (p.Ser1411fs)
|
rs587782054
|
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
|
NM_000051.4(ATM):c.4414_4423del (p.Leu1472fs)
|
rs2546910604
|
|
|
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
|
rs2082861857
|
|
|
NM_000051.4(ATM):c.4545C>T (p.Asn1515=)
|
rs764039368
|
|
|
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)
|
rs2082872908
|
|
|
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)
|
rs730881304
|
|
|
NM_000051.4(ATM):c.4661del (p.Asn1554fs)
|
rs1064793390
|
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
|
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)
|
rs864622290
|
|
|
NM_000051.4(ATM):c.4938del (p.Lys1646fs)
|
rs587781754
|
|
|
NM_000051.4(ATM):c.4961T>G (p.Leu1654Ter)
|
rs587781679
|
|
|
NM_000051.4(ATM):c.4965del (p.Lys1656fs)
|
rs2546954923
|
|
|
NM_000051.4(ATM):c.5088T>C (p.Tyr1696=)
|
rs786203476
|
|
|
NM_000051.4(ATM):c.5130G>A (p.Trp1710Ter)
|
rs780816003
|
|
|
NM_000051.4(ATM):c.5145G>A (p.Leu1715=)
|
rs786202765
|
|
|
NM_000051.4(ATM):c.5178-4dup
|
rs747750958
|
|
|
NM_000051.4(ATM):c.5184dup (p.Val1729fs)
|
rs1555105588
|
|
|
NM_000051.4(ATM):c.5318del (p.Lys1773fs)
|
rs876660289
|
|
|
NM_000051.4(ATM):c.5319_5319+8delinsTGTTTG
|
rs1064792939
|
|
|
NM_000051.4(ATM):c.5320-5_5320-2del
|
rs730881310
|
|
|
NM_000051.4(ATM):c.5416del (p.Trp1805_Ile1806insTer)
|
rs879254041
|
|
|
NM_000051.4(ATM):c.5460del (p.Lys1820fs)
|
rs1057516760
|
|
|
NM_000051.4(ATM):c.5497-1G>A
|
rs876660245
|
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
|
NM_000051.4(ATM):c.5497-2A>G
|
rs786203796
|
|
|
NM_000051.4(ATM):c.549_550del (p.His183fs)
|
rs730881297
|
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
|
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)
|
rs754562056
|
|
|
NM_000051.4(ATM):c.5674+1G>T
|
rs1565482453
|
|
|
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
|
rs2547005376
|
|
|
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter)
|
rs2135976898
|
|
|
NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter)
|
rs1555111910
|
|
|
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)
|
rs375783941
|
|
|
NM_000051.4(ATM):c.6100C>A (p.Arg2034=)
|
rs532480170
|
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
|
NM_000051.4(ATM):c.6130A>T (p.Lys2044Ter)
|
rs2136128705
|
|
|
NM_000051.4(ATM):c.6133del (p.Ala2045fs)
|
rs1555113762
|
|
|
NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)
|
rs1555113821
|
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
|
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)
|
rs1555116381
|
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
|
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)
|
rs1339238483
|
|
|
NM_000051.4(ATM):c.6450dup (p.Arg2151fs)
|
rs2136222670
|
|
|
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs)
|
rs2085200653
|
|
|
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)
|
rs766706861
|
|
|
NM_000051.4(ATM):c.6585_6586del (p.His2195fs)
|
rs1555119004
|
|
|
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs)
|
rs768909644
|
|
|
NM_000051.4(ATM):c.680C>G (p.Ser227Ter)
|
rs762998620
|
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
|
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
|
rs1555119797
|
|
|
NM_000051.4(ATM):c.6975G>C (p.Ala2325=)
|
rs556778314
|
|
|
NM_000051.4(ATM):c.6976-1G>T
|
rs1591141963
|
|
|
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)
|
rs1591142418
|
|
|
NM_000051.4(ATM):c.710del (p.Thr237fs)
|
rs1060501642
|
|
|
NM_000051.4(ATM):c.7187_7190del (p.Thr2396fs)
|
rs2547248727
|
|
|
NM_000051.4(ATM):c.7248C>T (p.Leu2416=)
|
rs750513866
|
|
|
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs)
|
rs886039628
|
|
|
NM_000051.4(ATM):c.7307+1G>A
|
rs2086003529
|
|
|
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)
|
rs786203394
|
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
|
NM_000051.4(ATM):c.7410T>G (p.Tyr2470Ter)
|
rs1555123144
|
|
|
NM_000051.4(ATM):c.75_78del
|
rs1565344409
|
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
|
NM_000051.4(ATM):c.7630-1G>A
|
rs2086285148
|
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
|
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
|
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)
|
rs1060501547
|
|
|
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)
|
rs2086308918
|
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
|
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)
|
rs1057516599
|
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
|
NM_000051.4(ATM):c.7889T>G (p.Leu2630Ter)
|
rs1591178998
|
|
|
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)
|
rs863224440
|
|
|
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del)
|
rs876660743
|
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
|
NM_000051.4(ATM):c.8127del (p.Lys2710fs)
|
rs1591192266
|
|
|
NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter)
|
rs774334667
|
|
|
NM_000051.4(ATM):c.8152-1G>A
|
rs1398616877
|
|
|
NM_000051.4(ATM):c.8152-1G>T
|
rs1398616877
|
|
|
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)
|
rs1555128432
|
|
|
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)
|
rs1555128642
|
|
|
NM_000051.4(ATM):c.8291dup (p.Ser2764fs)
|
rs2547415413
|
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
|
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs)
|
rs786202318
|
|
|
NM_000051.4(ATM):c.8305del (p.Trp2769fs)
|
rs2547415915
|
|
|
NM_000051.4(ATM):c.8313A>C (p.Thr2771=)
|
rs1555135563
|
|
|
NM_000051.4(ATM):c.8376del (p.Arg2792fs)
|
rs2547418538
|
|
|
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)
|
rs2137026687
|
|
|
NM_000051.4(ATM):c.850C>T (p.Gln284Ter)
|
rs757782702
|
|
|
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)
|
rs786203976
|
|
|
NM_000051.4(ATM):c.8615_8616del (p.His2872fs)
|
rs1232259438
|
|
|
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter)
|
rs1565579084
|
|
|
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)
|
rs1555142816
|
|
|
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)
|
rs1555142845
|
|
|
NM_000051.4(ATM):c.8731dup (p.Thr2911fs)
|
rs2137291352
|
|
|
NM_000051.4(ATM):c.8787-1G>C
|
rs1591313869
|
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
|
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)
|
rs786202547
|
|
|
NM_000051.4(ATM):c.8850+1G>T
|
rs1555143620
|
|
|
NM_000051.4(ATM):c.8851-1G>T
|
rs1057516537
|
|
|
NM_000051.4(ATM):c.8942del (p.His2981fs)
|
rs786203489
|
|
|
NM_000051.4(ATM):c.8967del (p.Glu2990fs)
|
rs2547677906
|
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
|
NM_000051.4(ATM):c.8del (p.Leu3fs)
|
rs879254052
|
|
|
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs)
|
rs2137906600
|
|
|
NM_000051.4(ATM):c.901+1G>T
|
rs748840480
|
|
|
NM_000051.4(ATM):c.903T>A (p.Gly301=)
|
rs876659335
|
|
|
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter)
|
rs2137911487
|
|
|
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)
|
rs587782847
|
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
|
NM_000051.4(ATM):c.9112del (p.Gln3038fs)
|
rs587779878
|
|
|
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
|
rs2497178607
|
|
|
NM_000051.4(ATM):c.9169T>C (p.Ter3057Arg)
|
rs2091262473
|
|
|
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer)
|
rs2135265742
|
|
|
NM_000051.4(ATM):c.975del (p.His325fs)
|
rs2079883068
|
|
|
NM_000051.4(ATM):c.977_978del (p.Ile326fs)
|
rs876658832
|
|
|
NM_000053.4(ATP7B):c.1946+2T>C
|
|
|
|
NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu)
|
rs1555291809
|
|
|
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)
|
rs1957518268
|
|
|
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter)
|
rs1957506216
|
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
|
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)
|
rs758355520
|
|
|
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)
|
rs778732681
|
|
|
NM_000053.4(ATP7B):c.4125-2A>G
|
rs1555282347
|
|
|
NM_000055.4(BCHE):c.522_537del (p.Asn173_Tyr174insTer)
|
rs759643427
|
|
|
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)
|
rs1057517030
|
|
|
NM_000057.4(BLM):c.1087+2T>C
|
rs2505407634
|
|
|
NM_000057.4(BLM):c.1399dup (p.Asp467fs)
|
rs1555419862
|
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
|
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)
|
rs2505429817
|
|
|
NM_000057.4(BLM):c.213_214del (p.Ser72fs)
|
rs960430492
|
|
|
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)
|
rs1309932713
|
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
|
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)
|
rs2505546989
|
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
|
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter)
|
rs2151198389
|
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
|
NM_000057.4(BLM):c.991_995del (p.Lys331fs)
|
rs786204524
|
|
|
NM_000059.4(BRCA2):c.1062dup (p.Val355fs)
|
rs1555281716
|
|
|
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys)
|
rs80358410
|
|
|
NM_000059.4(BRCA2):c.1558T>G (p.Phe520Val)
|
rs80358441
|
|
|
NM_000059.4(BRCA2):c.1625T>C (p.Ile542Thr)
|
rs397507273
|
|
|
NM_000059.4(BRCA2):c.1627C>A (p.His543Asn)
|
rs80358446
|
|
|
NM_000059.4(BRCA2):c.1909+4C>A
|
rs768978701
|
|
|
NM_000059.4(BRCA2):c.2522G>A (p.Arg841Lys)
|
rs587781915
|
|
|
NM_000059.4(BRCA2):c.2592del (p.Glu865fs)
|
rs2137487979
|
|
|
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)
|
rs80358523
|
|
|
NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn)
|
rs587778119
|
|
|
NM_000059.4(BRCA2):c.3077A>G (p.Lys1026Arg)
|
rs1060502380
|
|
|
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)
|
rs762886975
|
|
|
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile)
|
rs587782420
|
|
|
NM_000059.4(BRCA2):c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle)
|
rs276174841
|
|
|
NM_000059.4(BRCA2):c.416T>C (p.Leu139Pro)
|
rs80358660
|
|
|
NM_000059.4(BRCA2):c.475+3A>G
|
rs81002795
|
|
|
NM_000059.4(BRCA2):c.4894A>C (p.Ser1632Arg)
|
rs80358712
|
|
|
NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val)
|
rs587778120
|
|
|
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala)
|
rs370252983
|
|
|
NM_000059.4(BRCA2):c.5981A>G (p.Gln1994Arg)
|
rs80358832
|
|
|
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)
|
rs80358852
|
|
|
NM_000059.4(BRCA2):c.631+2T>A
|
rs81002899
|
|
|
NM_000059.4(BRCA2):c.6823G>A (p.Glu2275Lys)
|
rs587782362
|
|
|
NM_000059.4(BRCA2):c.6916G>A (p.Ala2306Thr)
|
rs730881550
|
|
|
NM_000059.4(BRCA2):c.6938-1G>A
|
rs886040936
|
|
|
NM_000059.4(BRCA2):c.6971A>G (p.His2324Arg)
|
rs398122574
|
|
|
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)
|
rs876661032
|
|
|
NM_000059.4(BRCA2):c.7007+5G>C
|
rs81002816
|
|
|
NM_000059.4(BRCA2):c.7081C>T (p.His2361Tyr)
|
rs786203493
|
|
|
NM_000059.4(BRCA2):c.7436-19A>G
|
rs398122583
|
|
|
NM_000059.4(BRCA2):c.7457A>G (p.Asn2486Ser)
|
rs786203755
|
|
|
NM_000059.4(BRCA2):c.7598C>G (p.Ser2533Cys)
|
rs80358987
|
|
|
NM_000059.4(BRCA2):c.7751G>A (p.Gly2584Asp)
|
rs80359001
|
|
|
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly)
|
rs80359010
|
|
|
NM_000059.4(BRCA2):c.7883T>C (p.Ile2628Thr)
|
rs879255465
|
|
|
NM_000059.4(BRCA2):c.793+2T>G
|
rs886040942
|
|
|
NM_000059.4(BRCA2):c.8265_8275del (p.Ala2756fs)
|
rs2548546894
|
|
|
NM_000059.4(BRCA2):c.8633-14T>C
|
rs769984654
|
|
|
NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe)
|
rs80359138
|
|
|
NM_000059.4(BRCA2):c.9270C>A (p.Phe3090Leu)
|
rs587780873
|
|
|
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)
|
rs276174923
|
|
|
NM_000059.4(BRCA2):c.9698G>A (p.Cys3233Tyr)
|
rs398122620
|
|
|
NM_000070.3(CAPN3):c.1333G>C (p.Gly445Arg)
|
rs773827877
|
|
|
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del)
|
rs746075428
|
|
|
NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)
|
rs774048414
|
|
|
NM_000070.3(CAPN3):c.2163G>A (p.Trp721Ter)
|
rs2054179951
|
|
|
NM_000070.3(CAPN3):c.2380+2T>G
|
rs761935462
|
|
|
NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)
|
rs2053442769
|
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
|
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)
|
rs757448865
|
|
|
NM_000070.3(CAPN3):c.772A>T (p.Arg258Ter)
|
rs2053484604
|
|
|
NM_000071.3(CBS):c.1064C>T (p.Ala355Val)
|
rs772384826
|
|
|
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)
|
rs1170128038
|
|
|
NM_000071.3(CBS):c.1152G>C (p.Lys384Asn)
|
rs1304669003
|
|
|
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)
|
rs745704046
|
|
|
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)
|
rs775432669
|
|
|
NM_000075.4(CDK4):c.267A>G (p.Val89=)
|
rs886049715
|
|
|
NM_000075.4(CDK4):c.42C>T (p.Val14=)
|
rs786203182
|
|
|
NM_000075.4(CDK4):c.747T>C (p.Phe249=)
|
rs886049713
|
|
|
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)
|
rs199907548
|
|
|
NM_000077.5(CDKN2A):c.249C>A (p.His83Gln)
|
rs34968276
|
|
|
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)
|
rs6413463
|
|
|
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)
|
rs45476696
|
|
|
NM_000077.5(CDKN2A):c.47T>G (p.Leu16Arg)
|
rs864622263
|
|
|
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)
|
rs1064794292
|
|
|
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs)
|
rs1398583523
|
|
|
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)
|
rs977512223
|
|
|
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro)
|
rs121909517
|
|
|
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)
|
rs483353045
|
|
|
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter)
|
rs1749618632
|
|
|
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])
|
rs756539994
|
|
|
NM_000091.5(COL4A3):c.3749del (p.Pro1250fs)
|
rs1335923152
|
|
|
NM_000092.5(COL4A4):c.1433G>A (p.Gly478Glu)
|
rs781479400
|
|
|
NM_000092.5(COL4A4):c.3000_3004del (p.Gly1002fs)
|
rs2473974445
|
|
|
NM_000094.4(COL7A1):c.4011+1G>A
|
rs1553862581
|
|
|
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg)
|
rs1156352791
|
|
|
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)
|
rs397509431
|
|
|
NM_000101.4(CYBA):c.269G>A (p.Arg90Gln)
|
rs104894513
|
|
|
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del)
|
rs1459304265
|
|
|
NM_000128.4(F11):c.908del (p.Gly303fs)
|
rs786204722
|
|
|
NM_000132.4(F8):c.1372C>T (p.Arg458Cys)
|
rs2523950289
|
|
|
NM_000132.4(F8):c.5558C>T (p.Ala1853Val)
|
rs28933677
|
|
|
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu)
|
rs137852465
|
|
|
NM_000132.4(F8):c.6968G>A (p.Arg2323His)
|
rs137852474
|
|
|
NM_000133.4(F9):c.416G>A (p.Gly139Asp)
|
rs1216516070
|
|
|
NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)
|
rs2544273183
|
|
|
NM_000135.4(FANCA):c.1470+2T>C
|
rs2039844134
|
|
|
NM_000135.4(FANCA):c.1A>C (p.Met1Leu)
|
rs772751654
|
|
|
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)
|
rs772751654
|
|
|
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs)
|
rs2143351554
|
|
|
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)
|
rs2039260856
|
|
|
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
|
rs1452688134
|
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
|
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)
|
rs766643461
|
|
|
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
|
rs758384536
|
|
|
NM_000135.4(FANCA):c.2T>A (p.Met1Lys)
|
rs769479800
|
|
|
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)
|
rs1405317971
|
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
|
NM_000135.4(FANCA):c.4010+2T>C
|
rs2062067746
|
|
|
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)
|
rs2040853392
|
|
|
NM_000135.4(FANCA):c.710-5T>C
|
rs2040523640
|
|
|
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)
|
rs2041102320
|
|
|
NM_000136.3(FANCC):c.165+1G>T
|
rs794726668
|
|
|
NM_000137.4(FAH):c.192+1G>T
|
rs786204683
|
|
|
NM_000137.4(FAH):c.47A>T (p.Asn16Ile)
|
rs121965073
|
|
|
NM_000137.4(FAH):c.910A>T (p.Lys304Ter)
|
rs2041271608
|
|
|
NM_000137.4(FAH):c.971G>A (p.Trp324Ter)
|
rs2041316956
|
|
|
NM_000143.4(FH):c.1157A>G (p.Gln386Arg)
|
rs750447792
|
|
|
NM_000143.4(FH):c.349G>C (p.Ala117Pro)
|
rs886039363
|
|
|
NM_000143.4(FH):c.378+1G>A
|
rs1660143675
|
|
|
NM_000143.4(FH):c.556-2A>T
|
rs750273092
|
|
|
NM_000143.4(FH):c.584T>C (p.Met195Thr)
|
rs863223965
|
|
|
NM_000143.4(FH):c.698G>T (p.Arg233Leu)
|
rs121913123
|
|
|
NM_000143.4(FH):c.892G>C (p.Ala298Pro)
|
rs201395553
|
|
|
NM_000143.4(FH):c.965T>G (p.Val322Gly)
|
rs863224003
|
|
|
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile)
|
rs2056092654
|
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
|
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)
|
rs778068209
|
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
|
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)
|
rs2039212985
|
|
|
NM_000152.5(GAA):c.1562A>T (p.Glu521Val)
|
rs1455277014
|
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
|
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)
|
rs1275298143
|
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
|
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)
|
rs886043882
|
|
|
NM_000152.5(GAA):c.2646+2T>A
|
rs786204561
|
|
|
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)
|
rs1555603264
|
|
|
NM_000153.4(GALC):c.2002A>C (p.Thr668Pro)
|
rs1884498480
|
|
|
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
|
rs2061599016
|
|
|
NM_000154.2(GALK1):c.3G>T (p.Met1Ile)
|
|
|
|
NM_000154.2(GALK1):c.98C>G (p.Ser33Ter)
|
rs756290185
|
|
|
NM_000155.4(GALT):c.152G>A (p.Arg51Gln)
|
rs111033648
|
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
|
NM_000155.4(GALT):c.452T>C (p.Val151Ala)
|
rs111033701
|
|
|
NM_000155.4(GALT):c.508-29del
|
rs111033711
|
|
|
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)
|
rs1821176206
|
|
|
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)
|
rs1821178833
|
|
|
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
|
rs1367364158
|
|
|
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val)
|
rs778153326
|
|
|
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)
|
rs933624223
|
|
|
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter)
|
rs1970564107
|
|
|
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala)
|
rs1468636851
|
|
|
NM_000169.3(GLA):c.890C>T (p.Ser297Phe)
|
rs28935489
|
|
|
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter)
|
rs1818407147
|
|
|
NM_000170.3(GLDC):c.1654A>G (p.Met552Val)
|
rs386833529
|
|
|
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del)
|
rs121964975
|
|
|
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter)
|
rs765893483
|
|
|
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr)
|
rs758029533
|
|
|
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp)
|
rs1288008254
|
|
|
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter)
|
rs2129948971
|
|
|
NM_000179.3(MSH6):c.125_132dup (p.Gly45fs)
|
rs1553408245
|
|
|
NM_000179.3(MSH6):c.1560T>C (p.Gly520=)
|
rs762396230
|
|
|
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)
|
rs267608064
|
|
|
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)
|
rs864622153
|
|
|
NM_000179.3(MSH6):c.1767del (p.Pro591fs)
|
rs1114167765
|
|
|
NM_000179.3(MSH6):c.1776A>G (p.Val592=)
|
rs56132616
|
|
|
NM_000179.3(MSH6):c.1786T>A (p.Phe596Ile)
|
rs587779918
|
|
|
NM_000179.3(MSH6):c.183G>C (p.Ala61=)
|
rs1060504757
|
|
|
NM_000179.3(MSH6):c.1844G>T (p.Cys615Phe)
|
rs730881793
|
|
|
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)
|
rs772363120
|
|
|
NM_000179.3(MSH6):c.1866dup (p.Pro623fs)
|
rs2104372581
|
|
|
NM_000179.3(MSH6):c.189C>T (p.Ser63=)
|
rs917331457
|
|
|
NM_000179.3(MSH6):c.1989T>G (p.Thr663=)
|
rs1057520324
|
|
|
NM_000179.3(MSH6):c.2013G>A (p.Leu671=)
|
rs765289515
|
|
|
NM_000179.3(MSH6):c.215_258del (p.Leu72fs)
|
rs1553408380
|
|
|
NM_000179.3(MSH6):c.2187C>T (p.Ala729=)
|
rs375610656
|
|
|
NM_000179.3(MSH6):c.2194C>A (p.Arg732=)
|
rs63751127
|
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
|
NM_000179.3(MSH6):c.2415C>T (p.Ile805=)
|
rs1219649543
|
|
|
NM_000179.3(MSH6):c.255C>A (p.Pro85=)
|
rs587779242
|
|
|
NM_000179.3(MSH6):c.2759del (p.Lys920fs)
|
rs1114167794
|
|
|
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)
|
rs730881827
|
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
|
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)
|
rs1553414395
|
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
|
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)
|
rs1553410230
|
|
|
NM_000179.3(MSH6):c.3104G>A (p.Arg1035Gln)
|
rs730881801
|
|
|
NM_000179.3(MSH6):c.3104G>T (p.Arg1035Leu)
|
rs730881801
|
|
|
NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu)
|
rs587781673
|
|
|
NM_000179.3(MSH6):c.313del (p.Trp105fs)
|
rs1572708636
|
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
|
NM_000179.3(MSH6):c.3153A>G (p.Val1051=)
|
rs1057521587
|
|
|
NM_000179.3(MSH6):c.3173-10_3173-6del
|
rs781520783
|
|
|
NM_000179.3(MSH6):c.3173-18T>C
|
rs189672273
|
|
|
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)
|
rs1060502901
|
|
|
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs)
|
rs1057517552
|
|
|
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)
|
rs3136351
|
|
|
NM_000179.3(MSH6):c.3246G>C (p.Pro1082=)
|
rs3136351
|
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
|
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)
|
rs63750753
|
|
|
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)
|
rs63750753
|
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
|
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)
|
rs35642130
|
|
|
NM_000179.3(MSH6):c.3371dup (p.Asn1124fs)
|
rs1553331659
|
|
|
NM_000179.3(MSH6):c.339C>T (p.His113=)
|
rs886056141
|
|
|
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp)
|
rs1316409501
|
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
|
NM_000179.3(MSH6):c.3636G>T (p.Val1212=)
|
rs1363247790
|
|
|
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)
|
rs1114167744
|
|
|
NM_000179.3(MSH6):c.3646+1G>A
|
rs1553332772
|
|
|
NM_000179.3(MSH6):c.3646+2T>G
|
rs1553332776
|
|
|
NM_000179.3(MSH6):c.3647-1G>A
|
rs587779279
|
|
|
NM_000179.3(MSH6):c.3705T>C (p.Leu1235=)
|
rs545552712
|
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
|
NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs)
|
rs1553333093
|
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
|
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala)
|
rs202066386
|
|
|
NM_000179.3(MSH6):c.3792A>C (p.Leu1264=)
|
rs786202051
|
|
|
NM_000179.3(MSH6):c.3802-8T>G
|
rs864622195
|
|
|
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn)
|
rs864622400
|
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
|
NM_000179.3(MSH6):c.3852G>T (p.Thr1284=)
|
rs2229018
|
|
|
NM_000179.3(MSH6):c.3922_3938dup (p.Gln1314fs)
|
rs1670123011
|
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
|
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln)
|
rs184131049
|
|
|
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)
|
rs1553333753
|
|
|
NM_000179.3(MSH6):c.4001+4_4001+8dup
|
rs587782853
|
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
|
NM_000179.3(MSH6):c.4002-11_4002-10delinsA
|
rs1553333946
|
|
|
NM_000179.3(MSH6):c.4083GACT[3] (p.Ter1361=)
|
rs765313977
|
|
|
NM_000179.3(MSH6):c.423C>G (p.Gly141=)
|
rs777587467
|
|
|
NM_000179.3(MSH6):c.578del (p.Leu193fs)
|
rs587782281
|
|
|
NM_000179.3(MSH6):c.67G>A (p.Ala23Thr)
|
rs730881810
|
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
|
NM_000179.3(MSH6):c.741dup (p.Arg248fs)
|
rs267608041
|
|
|
NM_000179.3(MSH6):c.843_844insAC (p.Val282fs)
|
rs752540976
|
|
|
NM_000179.3(MSH6):c.893G>A (p.Arg298Gln)
|
rs765237563
|
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
|
NM_000179.3(MSH6):c.908dup (p.Met303fs)
|
rs1057517551
|
|
|
NM_000182.5(HADHA):c.1493A>G (p.His498Arg)
|
rs752005568
|
|
|
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
|
rs1669575714
|
|
|
NM_000187.4(HGD):c.1081G>A (p.Gly361Arg)
|
rs765219004
|
|
|
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
|
rs1638362423
|
|
|
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
|
rs774773010
|
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
|
NM_000202.8(IDS):c.817C>T (p.Arg273Trp)
|
rs1602740899
|
|
|
NM_000203.5(IDUA):c.1190-1del
|
rs2534092221
|
|
|
NM_000231.3(SGCG):c.320C>T (p.Ser107Leu)
|
|
|
|
NM_000231.3(SGCG):c.801_802del (p.Pro268fs)
|
rs2137534216
|
|
|
NM_000232.5(SGCB):c.30del (p.Glu10fs)
|
rs2109380824
|
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
|
NM_000245.4(MET):c.1011G>A (p.Leu337=)
|
rs886061942
|
|
|
NM_000245.4(MET):c.252C>T (p.Tyr84=)
|
rs1584876265
|
|
|
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)
|
rs121913246
|
|
|
NM_000245.4(MET):c.3867C>T (p.Thr1289=)
|
rs587780532
|
|
|
NM_000245.4(MET):c.3936-13_3936-10del
|
rs745366999
|
|
|
NM_000249.4(MLH1):c.-28A>T
|
rs56198082
|
|
|
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)
|
rs63751715
|
|
|
NM_000249.4(MLH1):c.1039-1G>A
|
rs267607819
|
|
|
NM_000249.4(MLH1):c.1039-1G>T
|
rs267607819
|
|
|
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys)
|
rs143009528
|
|
|
NM_000249.4(MLH1):c.1210C>T (p.Leu404=)
|
rs1057517538
|
|
|
NM_000249.4(MLH1):c.1211del (p.Leu404fs)
|
rs2471123696
|
|
|
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)
|
rs1057517541
|
|
|
NM_000249.4(MLH1):c.1255del (p.Ile419fs)
|
rs2471126138
|
|
|
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)
|
rs63750791
|
|
|
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)
|
rs370687064
|
|
|
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter)
|
rs63750443
|
|
|
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter)
|
rs756843954
|
|
|
NM_000249.4(MLH1):c.1409+1G>A
|
rs267607825
|
|
|
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC
|
rs1559558071
|
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
|
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)
|
rs63750226
|
|
|
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs)
|
rs1553653084
|
|
|
NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs)
|
rs2083718945
|
|
|
NM_000249.4(MLH1):c.1559-11T>C
|
rs730881750
|
|
|
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)
|
rs587779953
|
|
|
NM_000249.4(MLH1):c.1582_1583insGGTT (p.His528fs)
|
rs2471313402
|
|
|
NM_000249.4(MLH1):c.1587C>T (p.Ser529=)
|
rs767089159
|
|
|
NM_000249.4(MLH1):c.1620G>A (p.Leu540=)
|
rs786202409
|
|
|
NM_000249.4(MLH1):c.1633dup (p.Thr545fs)
|
rs1553658104
|
|
|
NM_000249.4(MLH1):c.1667+2T>C
|
rs878853780
|
|
|
NM_000249.4(MLH1):c.1668-1G>A
|
rs267607845
|
|
|
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser)
|
rs587781796
|
|
|
NM_000249.4(MLH1):c.1731+1G>T
|
rs267607853
|
|
|
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs)
|
rs1553662622
|
|
|
NM_000249.4(MLH1):c.1841_1842del (p.Phe614fs)
|
rs2471434803
|
|
|
NM_000249.4(MLH1):c.1853A>G (p.Lys618Arg)
|
rs63750449
|
|
|
NM_000249.4(MLH1):c.1858del (p.Glu620fs)
|
rs786203456
|
|
|
NM_000249.4(MLH1):c.186A>G (p.Gln62=)
|
rs1559506261
|
|
|
NM_000249.4(MLH1):c.1896+1G>T
|
rs267607867
|
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
|
NM_000249.4(MLH1):c.18G>A (p.Gly6=)
|
rs786202312
|
|
|
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
|
rs2125711616
|
|
|
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)
|
rs63750899
|
|
|
NM_000249.4(MLH1):c.1989+5G>T
|
rs267607878
|
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
|
NM_000249.4(MLH1):c.200G>T (p.Gly67Val)
|
rs63749939
|
|
|
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)
|
rs63750809
|
|
|
NM_000249.4(MLH1):c.2040C>T (p.Cys680=)
|
rs63749867
|
|
|
NM_000249.4(MLH1):c.2080_2081inv (p.Glu694Ser)
|
|
|
|
NM_000249.4(MLH1):c.2088C>G (p.Thr696=)
|
rs1060504015
|
|
|
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)
|
rs2471505083
|
|
|
NM_000249.4(MLH1):c.2239C>T (p.Pro747Ser)
|
rs587779958
|
|
|
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)
|
rs63750437
|
|
|
NM_000249.4(MLH1):c.253C>T (p.Leu85=)
|
rs63750659
|
|
|
NM_000249.4(MLH1):c.283del (p.Ser95fs)
|
rs1064795441
|
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
|
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro)
|
rs63750266
|
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
|
NM_000249.4(MLH1):c.304G>T (p.Glu102Ter)
|
rs63750453
|
|
|
NM_000249.4(MLH1):c.306+6C>T
|
rs746641892
|
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
|
NM_000249.4(MLH1):c.325del (p.His109fs)
|
rs1553641273
|
|
|
NM_000249.4(MLH1):c.366_369del (p.Lys123fs)
|
rs2470806854
|
|
|
NM_000249.4(MLH1):c.380+2T>C
|
rs267607742
|
|
|
NM_000249.4(MLH1):c.393del (p.Asp132fs)
|
rs2081922847
|
|
|
NM_000249.4(MLH1):c.404_407del (p.Leu135fs)
|
rs587779014
|
|
|
NM_000249.4(MLH1):c.588+5G>C
|
rs267607768
|
|
|
NM_000249.4(MLH1):c.589-6T>G
|
rs781244266
|
|
|
NM_000249.4(MLH1):c.677+1G>A
|
rs267607778
|
|
|
NM_000249.4(MLH1):c.677+3A>T
|
rs267607780
|
|
|
NM_000249.4(MLH1):c.678-13del
|
rs1553645092
|
|
|
NM_000249.4(MLH1):c.678-9_678-8del
|
rs1559534072
|
|
|
NM_000249.4(MLH1):c.705T>C (p.Asp235=)
|
rs876658869
|
|
|
NM_000249.4(MLH1):c.790+4A>G
|
rs267607786
|
|
|
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)
|
rs63751194
|
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
|
NM_000249.4(MLH1):c.81G>A (p.Arg27=)
|
rs878853791
|
|
|
NM_000249.4(MLH1):c.84del (p.Ala29fs)
|
rs587779045
|
|
|
NM_000249.4(MLH1):c.884+4A>G
|
rs267607777
|
|
|
NM_000249.4(MLH1):c.884G>A (p.Ser295Asn)
|
rs63750144
|
|
|
NM_000249.4(MLH1):c.885-21TC[2]
|
rs267607804
|
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
|
NM_000249.4(MLH1):c.927C>T (p.Pro309=)
|
rs63749896
|
|
|
NM_000249.4(MLH1):c.927dup (p.Thr310fs)
|
rs1553647995
|
|
|
NM_000249.4(MLH1):c.9C>A (p.Phe3Leu)
|
rs779759678
|
|
|
NM_000249.4(MLH1):c.9_21del (p.Phe3fs)
|
rs1064795341
|
|
|
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)
|
rs63751004
|
|
|
NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter)
|
rs1558466577
|
|
|
NM_000251.3(MSH2):c.1027A>G (p.Asn343Asp)
|
rs587779961
|
|
|
NM_000251.3(MSH2):c.1042del (p.Gln348fs)
|
rs1553353233
|
|
|
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)
|
rs587779067
|
|
|
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)
|
rs587779067
|
|
|
NM_000251.3(MSH2):c.1076+8A>T
|
rs1673084214
|
|
|
NM_000251.3(MSH2):c.108T>C (p.Leu36=)
|
rs876659034
|
|
|
NM_000251.3(MSH2):c.1098_1099insTC (p.Val367fs)
|
rs2465986626
|
|
|
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)
|
rs730881755
|
|
|
NM_000251.3(MSH2):c.1163dup (p.Asn388fs)
|
rs2104439295
|
|
|
NM_000251.3(MSH2):c.1191A>T (p.Gln397His)
|
rs768694189
|
|
|
NM_000251.3(MSH2):c.1206A>G (p.Gln402=)
|
rs1553356673
|
|
|
NM_000251.3(MSH2):c.1251T>C (p.Val417=)
|
rs1553356731
|
|
|
NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)
|
rs730881766
|
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
|
NM_000251.3(MSH2):c.1276+2T>C
|
rs267607953
|
|
|
NM_000251.3(MSH2):c.1303G>T (p.Val435Phe)
|
rs876658240
|
|
|
NM_000251.3(MSH2):c.1327C>A (p.Leu443Ile)
|
rs876659906
|
|
|
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs)
|
rs1553361231
|
|
|
NM_000251.3(MSH2):c.1387-9T>C
|
rs587779087
|
|
|
NM_000251.3(MSH2):c.1389G>T (p.Val463=)
|
rs1553365702
|
|
|
NM_000251.3(MSH2):c.1401del (p.Glu467fs)
|
rs1553365711
|
|
|
NM_000251.3(MSH2):c.1510+2T>C
|
rs1060502023
|
|
|
NM_000251.3(MSH2):c.1511-2A>G
|
rs267607962
|
|
|
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)
|
rs63750330
|
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
|
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)
|
rs749212640
|
|
|
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
|
rs1558511092
|
|
|
NM_000251.3(MSH2):c.1661+1G>A
|
rs267607969
|
|
|
NM_000251.3(MSH2):c.1661+1G>T
|
rs267607969
|
|
|
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)
|
rs63750597
|
|
|
NM_000251.3(MSH2):c.1662-1G>A
|
rs267607970
|
|
|
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)
|
rs786201077
|
|
|
NM_000251.3(MSH2):c.1746C>T (p.Val582=)
|
rs786201486
|
|
|
NM_000251.3(MSH2):c.174C>A (p.Phe58Leu)
|
rs372189599
|
|
|
NM_000251.3(MSH2):c.174C>G (p.Phe58Leu)
|
rs372189599
|
|
|
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile)
|
rs730881777
|
|
|
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)
|
rs587779113
|
|
|
NM_000251.3(MSH2):c.1899A>T (p.Ile633=)
|
rs1667243318
|
|
|
NM_000251.3(MSH2):c.2004delinsCA (p.Gly669fs)
|
rs876659961
|
|
|
NM_000251.3(MSH2):c.2005+8dup
|
rs267607992
|
|
|
NM_000251.3(MSH2):c.2006-2A>G
|
rs267607991
|
|
|
NM_000251.3(MSH2):c.2010dup (p.Asn671fs)
|
rs63751123
|
|
|
NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)
|
rs1057520735
|
|
|
NM_000251.3(MSH2):c.2028A>C (p.Ser676=)
|
rs1057522032
|
|
|
NM_000251.3(MSH2):c.2041C>G (p.Gln681Glu)
|
rs730881762
|
|
|
NM_000251.3(MSH2):c.204G>A (p.Gly68=)
|
rs753643218
|
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
|
NM_000251.3(MSH2):c.2139G>T (p.Gly713=)
|
rs63750003
|
|
|
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe)
|
rs63750794
|
|
|
NM_000251.3(MSH2):c.2210+1G>A
|
rs267608002
|
|
|
NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg)
|
rs63751119
|
|
|
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro)
|
rs1318630651
|
|
|
NM_000251.3(MSH2):c.2288C>T (p.Ala763Val)
|
rs144412585
|
|
|
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)
|
rs878853811
|
|
|
NM_000251.3(MSH2):c.2342del (p.Ala781fs)
|
rs2528987038
|
|
|
NM_000251.3(MSH2):c.2354A>C (p.His785Pro)
|
rs200252727
|
|
|
NM_000251.3(MSH2):c.2365del (p.Ala789fs)
|
rs2528988982
|
|
|
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)
|
rs202145681
|
|
|
NM_000251.3(MSH2):c.2458+1G>A
|
rs267608010
|
|
|
NM_000251.3(MSH2):c.2463C>T (p.Val821=)
|
rs886056136
|
|
|
NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp)
|
rs41295296
|
|
|
NM_000251.3(MSH2):c.2562del (p.Gln855fs)
|
rs1114167836
|
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
|
NM_000251.3(MSH2):c.2634+5G>C
|
rs267608017
|
|
|
NM_000251.3(MSH2):c.2635-1G>A
|
rs267608020
|
|
|
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter)
|
rs1230083633
|
|
|
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile)
|
rs34319539
|
|
|
NM_000251.3(MSH2):c.276T>G (p.Leu92=)
|
rs1060504425
|
|
|
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)
|
rs1553350250
|
|
|
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)
|
rs1060501989
|
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
|
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)
|
rs193096019
|
|
|
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer)
|
rs2465704185
|
|
|
NM_000251.3(MSH2):c.482T>A (p.Val161Asp)
|
rs63750126
|
|
|
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp)
|
rs63750582
|
|
|
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys)
|
rs587779166
|
|
|
NM_000251.3(MSH2):c.606C>G (p.Pro202=)
|
rs63750600
|
|
|
NM_000251.3(MSH2):c.606C>T (p.Pro202=)
|
rs63750600
|
|
|
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)
|
rs372619120
|
|
|
NM_000251.3(MSH2):c.6G>T (p.Ala2=)
|
rs368270856
|
|
|
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)
|
rs864622183
|
|
|
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)
|
rs63750058
|
|
|
NM_000251.3(MSH2):c.870_874del (p.Glu290fs)
|
rs1114167848
|
|
|
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)
|
rs757892928
|
|
|
NM_000251.3(MSH2):c.942+3A>C
|
rs193922376
|
|
|
NM_000251.3(MSH2):c.942G>A (p.Gln314=)
|
rs587779197
|
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
|
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser)
|
rs773301485
|
|
|
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)
|
rs4987188
|
|
|
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)
|
rs63750828
|
|
|
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)
|
rs200908035
|
|
|
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys)
|
rs1561959114
|
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
|
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter)
|
rs1401619267
|
|
|
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter)
|
rs782347270
|
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
|
NM_000263.4(NAGLU):c.2099del (p.Asn700fs)
|
rs1383530983
|
|
|
NM_000263.4(NAGLU):c.678+1G>A
|
rs2143087145
|
|
|
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)
|
rs1298238512
|
|
|
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
|
rs2511357450
|
|
|
NM_000271.5(NPC1):c.1757_1757+1del
|
rs1456597696
|
|
|
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
|
rs2511234836
|
|
|
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
|
rs1454412918
|
|
|
NM_000271.5(NPC1):c.2670C>A (p.Tyr890Ter)
|
rs780592540
|
|
|
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs)
|
rs2145366898
|
|
|
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter)
|
rs774602107
|
|
|
NM_000271.5(NPC1):c.3263A>G (p.Tyr1088Cys)
|
rs28942106
|
|
|
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)
|
rs1555632003
|
|
|
NM_000274.4(OAT):c.1181G>A (p.Cys394Tyr)
|
rs386833597
|
|
|
NM_000274.4(OAT):c.192_193del (p.Gly65fs)
|
rs386833600
|
|
|
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)
|
rs62516062
|
|
|
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala)
|
rs62516102
|
|
|
NM_000277.3(PAH):c.1289T>C (p.Leu430Pro)
|
rs199475607
|
|
|
NM_000277.3(PAH):c.1315+2T>C
|
rs1799970
|
|
|
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)
|
rs794727086
|
|
|
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)
|
rs199475624
|
|
|
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)
|
rs74486803
|
|
|
NM_000277.3(PAH):c.535T>C (p.Tyr179His)
|
rs199475671
|
|
|
NM_000277.3(PAH):c.665A>T (p.Asp222Val)
|
rs62507319
|
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
|
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)
|
rs796064503
|
|
|
NM_000277.3(PAH):c.842+4A>G
|
rs1555204434
|
|
|
NM_000282.4(PCCA):c.1812_1815del (p.Val605fs)
|
rs761625006
|
|
|
NM_000282.4(PCCA):c.2103del (p.Thr704fs)
|
rs1555331314
|
|
|
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
|
rs2498539706
|
|
|
NM_000303.3(PMM2):c.1A>G (p.Met1Val)
|
rs786204591
|
|
|
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)
|
rs387906824
|
|
|
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)
|
rs104894530
|
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
|
NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)
|
rs878853322
|
|
|
NM_000314.8(PTEN):c.*10del
|
rs756681683
|
|
|
NM_000314.8(PTEN):c.*10dup
|
rs756681683
|
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
|
NM_000314.8(PTEN):c.1026+1G>A
|
rs786201041
|
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
|
NM_000314.8(PTEN):c.104T>G (p.Met35Arg)
|
rs121909225
|
|
|
NM_000314.8(PTEN):c.165-24TTTG[2]
|
rs786204877
|
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
|
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)
|
rs876660634
|
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
|
NM_000314.8(PTEN):c.227_228del (p.His75_Tyr76insTer)
|
rs2493711950
|
|
|
NM_000314.8(PTEN):c.253+5G>T
|
rs1554897889
|
|
|
NM_000314.8(PTEN):c.254-20A>G
|
rs1045014545
|
|
|
NM_000314.8(PTEN):c.254-6C>T
|
rs1057520525
|
|
|
NM_000314.8(PTEN):c.300dup (p.Ile101fs)
|
rs1554898083
|
|
|
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs)
|
rs1554898085
|
|
|
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)
|
rs121909223
|
|
|
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)
|
rs876660535
|
|
|
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu)
|
rs121909218
|
|
|
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)
|
rs121909224
|
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
|
NM_000314.8(PTEN):c.395G>T (p.Gly132Val)
|
rs121909241
|
|
|
NM_000314.8(PTEN):c.39_40del (p.Arg14fs)
|
rs587776671
|
|
|
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)
|
rs786201044
|
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
|
NM_000314.8(PTEN):c.492+1G>T
|
rs1554898242
|
|
|
NM_000314.8(PTEN):c.493-12dup
|
rs756623620
|
|
|
NM_000314.8(PTEN):c.493G>C (p.Gly165Arg)
|
rs587782603
|
|
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
|
|
NM_000314.8(PTEN):c.635-1G>C
|
rs876661024
|
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
|
NM_000314.8(PTEN):c.802-51_802-14del
|
rs557364463
|
|
|
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)
|
rs1589665853
|
|
|
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser)
|
rs1114167667
|
|
|
NM_000314.8(PTEN):c.968dup (p.Asn323fs)
|
rs121913291
|
|
|
NM_000314.8(PTEN):c.972_977del (p.Leu325_Asp326del)
|
rs1860630372
|
|
|
NM_000314.8(PTEN):c.987_990del (p.Asn329fs)
|
rs587782304
|
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
|
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)
|
rs373652862
|
|
|
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
|
rs104894928
|
|
|
NM_000330.4(RS1):c.579dup (p.Ile194fs)
|
rs199469697
|
|
|
NM_000337.6(SGCD):c.390del (p.Ala131fs)
|
rs397517921
|
|
|
NM_000352.6(ABCC8):c.1333-1013A>G
|
rs980458021
|
|
|
NM_000352.6(ABCC8):c.148+1G>A
|
rs766312766
|
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
|
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
|
|
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
|
rs370962049
|
|
|
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile)
|
rs1845955010
|
|
|
NM_000368.5(TSC1):c.1005A>G (p.Thr335=)
|
rs753091213
|
|
|
NM_000368.5(TSC1):c.1006C>A (p.Arg336=)
|
rs118203483
|
|
|
NM_000368.5(TSC1):c.1026A>G (p.Pro342=)
|
rs1588324071
|
|
|
NM_000368.5(TSC1):c.1029+1G>C
|
rs118203485
|
|
|
NM_000368.5(TSC1):c.1030-14T>C
|
rs180810228
|
|
|
NM_000368.5(TSC1):c.1059T>C (p.Cys353=)
|
rs1216537041
|
|
|
NM_000368.5(TSC1):c.107-1G>A
|
rs1064793494
|
|
|
NM_000368.5(TSC1):c.1107G>A (p.Leu369=)
|
rs909737447
|
|
|
NM_000368.5(TSC1):c.1128C>G (p.Val376=)
|
rs1419093686
|
|
|
NM_000368.5(TSC1):c.114C>T (p.Gly38=)
|
rs776158461
|
|
|
NM_000368.5(TSC1):c.1167A>G (p.Gly389=)
|
rs876660723
|
|
|
NM_000368.5(TSC1):c.1167A>T (p.Gly389=)
|
rs876660723
|
|
|
NM_000368.5(TSC1):c.1179C>T (p.Thr393=)
|
rs2131944935
|
|
|
NM_000368.5(TSC1):c.1194C>G (p.Ala398=)
|
rs1060504861
|
|
|
NM_000368.5(TSC1):c.1209G>T (p.Ser403=)
|
rs141184479
|
|
|
NM_000368.5(TSC1):c.1236C>T (p.Pro412=)
|
rs1588321355
|
|
|
NM_000368.5(TSC1):c.1257C>A (p.Pro419=)
|
rs369642207
|
|
|
NM_000368.5(TSC1):c.1270A>C (p.Arg424=)
|
rs1845728736
|
|
|
NM_000368.5(TSC1):c.129C>T (p.Asn43=)
|
rs2132270030
|
|
|
NM_000368.5(TSC1):c.12A>G (p.Gln4=)
|
rs1588363707
|
|
|
NM_000368.5(TSC1):c.1329A>T (p.Gly443=)
|
rs2131878742
|
|
|
NM_000368.5(TSC1):c.1333+6del
|
rs1060503212
|
|
|
NM_000368.5(TSC1):c.1333+9T>A
|
rs747629498
|
|
|
NM_000368.5(TSC1):c.1338G>A (p.Glu446=)
|
rs1410493156
|
|
|
NM_000368.5(TSC1):c.1344T>C (p.Pro448=)
|
rs530908428
|
|
|
NM_000368.5(TSC1):c.1368A>G (p.Leu456=)
|
rs397514856
|
|
|
NM_000368.5(TSC1):c.1383G>A (p.Gly461=)
|
rs779981609
|
|
|
NM_000368.5(TSC1):c.1407A>G (p.Glu469=)
|
rs1272855447
|
|
|
NM_000368.5(TSC1):c.1416T>C (p.Ser472=)
|
rs2131862866
|
|
|
NM_000368.5(TSC1):c.1434A>G (p.Glu478=)
|
rs1588312602
|
|
|
NM_000368.5(TSC1):c.1443A>G (p.Ala481=)
|
rs1554816081
|
|
|
NM_000368.5(TSC1):c.1464G>A (p.Glu488=)
|
rs1588311193
|
|
|
NM_000368.5(TSC1):c.1467C>T (p.Ile489=)
|
rs2131849203
|
|
|
NM_000368.5(TSC1):c.1470C>T (p.Thr490=)
|
|
|
|
NM_000368.5(TSC1):c.1476A>C (p.Ala492=)
|
rs1554816067
|
|
|
NM_000368.5(TSC1):c.1488T>C (p.Pro496=)
|
rs2131847678
|
|
|
NM_000368.5(TSC1):c.1503A>C (p.Gly501=)
|
rs201810746
|
|
|
NM_000368.5(TSC1):c.1518C>T (p.Pro506=)
|
rs1588310935
|
|
|
NM_000368.5(TSC1):c.1528G>A (p.Asp510Asn)
|
rs779206386
|
|
|
NM_000368.5(TSC1):c.1530C>T (p.Asp510=)
|
rs1554816033
|
|
|
NM_000368.5(TSC1):c.1533T>C (p.Ser511=)
|
rs1588310849
|
|
|
NM_000368.5(TSC1):c.1536C>T (p.Leu512=)
|
rs1264512400
|
|
|
NM_000368.5(TSC1):c.1549C>A (p.Arg517=)
|
rs1243886871
|
|
|
NM_000368.5(TSC1):c.1551G>A (p.Arg517=)
|
|
|
|
NM_000368.5(TSC1):c.1560C>T (p.His520=)
|
|
|
|
NM_000368.5(TSC1):c.1563G>A (p.Ser521=)
|
rs1554816005
|
|
|
NM_000368.5(TSC1):c.1569C>T (p.Ala523=)
|
rs1234835402
|
|
|
NM_000368.5(TSC1):c.156C>G (p.Thr52=)
|
rs1564503304
|
|
|
NM_000368.5(TSC1):c.156C>T (p.Thr52=)
|
rs1564503304
|
|
|
NM_000368.5(TSC1):c.1572C>G (p.Ser524=)
|
rs397514810
|
|
|
NM_000368.5(TSC1):c.1611C>T (p.His537=)
|
rs898271020
|
|
|
NM_000368.5(TSC1):c.1614C>T (p.Ser538=)
|
rs878853961
|
|
|
NM_000368.5(TSC1):c.1623C>T (p.Asp541=)
|
|
|
|
NM_000368.5(TSC1):c.1662C>A (p.Pro554=)
|
|
|
|
NM_000368.5(TSC1):c.1671G>T (p.Leu557=)
|
rs2131833685
|
|
|
NM_000368.5(TSC1):c.1701G>C (p.Ala567=)
|
rs35478675
|
|
|
NM_000368.5(TSC1):c.1704A>C (p.Gly568=)
|
rs1171240569
|
|
|
NM_000368.5(TSC1):c.1710G>A (p.Arg570=)
|
rs777386797
|
|
|
NM_000368.5(TSC1):c.1713A>G (p.Glu571=)
|
rs1588309781
|
|
|
NM_000368.5(TSC1):c.171A>G (p.Ala57=)
|
rs1060504853
|
|
|
NM_000368.5(TSC1):c.171A>T (p.Ala57=)
|
rs1060504853
|
|
|
NM_000368.5(TSC1):c.1734C>T (p.Thr578=)
|
rs1251871091
|
|
|
NM_000368.5(TSC1):c.1746T>G (p.Thr582=)
|
rs2131827290
|
|
|
NM_000368.5(TSC1):c.1749C>T (p.Pro583=)
|
rs876659216
|
|
|
NM_000368.5(TSC1):c.176A>T (p.His59Leu)
|
rs757837986
|
|
|
NM_000368.5(TSC1):c.1773G>C (p.Pro591=)
|
rs146578402
|
|
|
NM_000368.5(TSC1):c.1773G>T (p.Pro591=)
|
rs146578402
|
|
|
NM_000368.5(TSC1):c.1806C>T (p.Pro602=)
|
rs771521648
|
|
|
NM_000368.5(TSC1):c.1809G>C (p.Pro603=)
|
rs112434645
|
|
|
NM_000368.5(TSC1):c.180C>A (p.Ile60=)
|
rs1162060045
|
|
|
NM_000368.5(TSC1):c.180C>T (p.Ile60=)
|
rs1162060045
|
|
|
NM_000368.5(TSC1):c.1812T>C (p.Tyr604=)
|
rs2131821679
|
|
|
NM_000368.5(TSC1):c.1830G>A (p.Val610=)
|
rs2131820356
|
|
|
NM_000368.5(TSC1):c.1833A>G (p.Ala611=)
|
rs1240702401
|
|
|
NM_000368.5(TSC1):c.1848C>G (p.Ala616=)
|
rs752286096
|
|
|
NM_000368.5(TSC1):c.1851T>C (p.His617=)
|
rs2131818787
|
|
|
NM_000368.5(TSC1):c.1860C>T (p.Val620=)
|
rs1588308756
|
|
|
NM_000368.5(TSC1):c.1863C>T (p.Ile621=)
|
rs898222579
|
|
|
NM_000368.5(TSC1):c.186C>G (p.Thr62=)
|
rs1554820640
|
|
|
NM_000368.5(TSC1):c.1872T>C (p.Thr624=)
|
rs2131817057
|
|
|
NM_000368.5(TSC1):c.1893A>T (p.Ala631=)
|
rs2131815302
|
|
|
NM_000368.5(TSC1):c.18T>C (p.Asn6=)
|
rs2132296958
|
|
|
NM_000368.5(TSC1):c.1905A>G (p.Thr635=)
|
rs2131814347
|
|
|
NM_000368.5(TSC1):c.1917T>C (p.Gly639=)
|
rs775816560
|
|
|
NM_000368.5(TSC1):c.1944G>A (p.Val648=)
|
rs1554815720
|
|
|
NM_000368.5(TSC1):c.1950C>T (p.Asp650=)
|
rs1845608638
|
|
|
NM_000368.5(TSC1):c.1977G>T (p.Ala659=)
|
rs35958226
|
|
|
NM_000368.5(TSC1):c.1997+1G>A
|
rs118203610
|
|
|
NM_000368.5(TSC1):c.2010C>T (p.Pro670=)
|
rs1588305958
|
|
|
NM_000368.5(TSC1):c.2022C>G (p.Val674=)
|
rs118203618
|
|
|
NM_000368.5(TSC1):c.2022C>T (p.Val674=)
|
rs118203618
|
|
|
NM_000368.5(TSC1):c.2031C>A (p.Thr677=)
|
rs1060504855
|
|
|
NM_000368.5(TSC1):c.2094G>T (p.Leu698=)
|
rs2131770442
|
|
|
NM_000368.5(TSC1):c.2103G>A (p.Gln701=)
|
rs118203639
|
|
|
NM_000368.5(TSC1):c.2109C>G (p.Leu703=)
|
rs1440846632
|
|
|
NM_000368.5(TSC1):c.211-11dup
|
rs397514775
|
|
|
NM_000368.5(TSC1):c.211-19dup
|
rs2539080129
|
|
|
NM_000368.5(TSC1):c.2127G>A (p.Arg709=)
|
rs2131765779
|
|
|
NM_000368.5(TSC1):c.2136T>C (p.His712=)
|
rs1554815286
|
|
|
NM_000368.5(TSC1):c.2149A>C (p.Arg717=)
|
rs1057523194
|
|
|
NM_000368.5(TSC1):c.2151G>A (p.Arg717=)
|
rs1301689988
|
|
|
NM_000368.5(TSC1):c.2178A>G (p.Ala726=)
|
rs1588303718
|
|
|
NM_000368.5(TSC1):c.217T>C (p.Leu73=)
|
rs2132239282
|
|
|
NM_000368.5(TSC1):c.2184T>C (p.Ala728=)
|
|
|
|
NM_000368.5(TSC1):c.21C>T (p.Val7=)
|
rs145987906
|
|
|
NM_000368.5(TSC1):c.2208+2T>A
|
rs1064794132
|
|
|
NM_000368.5(TSC1):c.2218T>C (p.Leu740=)
|
rs2131741485
|
|
|
NM_000368.5(TSC1):c.2220G>A (p.Leu740=)
|
rs1588302073
|
|
|
NM_000368.5(TSC1):c.2235G>A (p.Lys745=)
|
rs753265422
|
|
|
NM_000368.5(TSC1):c.2286T>C (p.Asn762=)
|
rs1554815010
|
|
|
NM_000368.5(TSC1):c.2343G>A (p.Gln781=)
|
rs2131731368
|
|
|
NM_000368.5(TSC1):c.2370C>T (p.Tyr790=)
|
rs1845442273
|
|
|
NM_000368.5(TSC1):c.2382G>A (p.Gln794=)
|
|
|
|
NM_000368.5(TSC1):c.2394G>A (p.Thr798=)
|
rs1060504860
|
|
|
NM_000368.5(TSC1):c.2410A>C (p.Arg804=)
|
|
|
|
NM_000368.5(TSC1):c.2412G>A (p.Arg804=)
|
rs1554814676
|
|
|
NM_000368.5(TSC1):c.2421T>A (p.Ile807=)
|
rs754248661
|
|
|
NM_000368.5(TSC1):c.2448G>A (p.Lys816=)
|
rs1588299142
|
|
|
NM_000368.5(TSC1):c.2457C>T (p.Asn819=)
|
rs1471536624
|
|
|
NM_000368.5(TSC1):c.2463G>C (p.Val821=)
|
rs764014190
|
|
|
NM_000368.5(TSC1):c.2472T>G (p.Thr824=)
|
rs762811821
|
|
|
NM_000368.5(TSC1):c.2478G>A (p.Leu826=)
|
rs149719514
|
|
|
NM_000368.5(TSC1):c.2503-15A>T
|
|
|
|
NM_000368.5(TSC1):c.2511C>T (p.Asn837=)
|
rs1554814448
|
|
|
NM_000368.5(TSC1):c.2514T>C (p.Ser838=)
|
rs786203259
|
|
|
NM_000368.5(TSC1):c.2520G>C (p.Ser840=)
|
rs547498792
|
|
|
NM_000368.5(TSC1):c.2523C>T (p.Val841=)
|
rs397514825
|
|
|
NM_000368.5(TSC1):c.252C>T (p.Ala84=)
|
rs2132236617
|
|
|
NM_000368.5(TSC1):c.2532G>A (p.Gln844=)
|
rs2131688269
|
|
|
NM_000368.5(TSC1):c.2565T>A (p.Leu855=)
|
rs1845331038
|
|
|
NM_000368.5(TSC1):c.2571G>A (p.Glu857=)
|
|
|
|
NM_000368.5(TSC1):c.2580G>A (p.Glu860=)
|
rs1845329120
|
|
|
NM_000368.5(TSC1):c.2607G>A (p.Lys869=)
|
rs1845327520
|
|
|
NM_000368.5(TSC1):c.2613A>G (p.Ser871=)
|
rs1031508405
|
|
|
NM_000368.5(TSC1):c.2622A>G (p.Thr874=)
|
rs2131684460
|
|
|
NM_000368.5(TSC1):c.2626-3dup
|
rs1554813639
|
|
|
NM_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
|
NM_000368.5(TSC1):c.264C>T (p.Ser88=)
|
rs2132235789
|
|
|
NM_000368.5(TSC1):c.2664A>G (p.Leu888=)
|
rs2131638076
|
|
|
NM_000368.5(TSC1):c.2667A>G (p.Glu889=)
|
rs1554813546
|
|
|
NM_000368.5(TSC1):c.2682T>C (p.His894=)
|
rs771479673
|
|
|
NM_000368.5(TSC1):c.2688C>T (p.Leu896=)
|
rs2131636756
|
|
|
NM_000368.5(TSC1):c.2691G>A (p.Gln897=)
|
rs372915963
|
|
|
NM_000368.5(TSC1):c.270C>G (p.Leu90=)
|
rs142325036
|
|
|
NM_000368.5(TSC1):c.2718A>G (p.Gln906=)
|
rs1845144230
|
|
|
NM_000368.5(TSC1):c.2722C>A (p.Arg908=)
|
rs748845915
|
|
|
NM_000368.5(TSC1):c.2724G>C (p.Arg908=)
|
|
|
|
NM_000368.5(TSC1):c.2736G>A (p.Leu912=)
|
rs1588290587
|
|
|
NM_000368.5(TSC1):c.273G>C (p.Ser91=)
|
rs115097221
|
|
|
NM_000368.5(TSC1):c.273G>T (p.Ser91=)
|
rs115097221
|
|
|
NM_000368.5(TSC1):c.2746C>T (p.Leu916=)
|
rs2131633483
|
|
|
NM_000368.5(TSC1):c.2748G>C (p.Leu916=)
|
rs1588290553
|
|
|
NM_000368.5(TSC1):c.2760C>T (p.Asp920=)
|
rs1226490074
|
|
|
NM_000368.5(TSC1):c.2772G>A (p.Leu924=)
|
|
|
|
NM_000368.5(TSC1):c.2778G>A (p.Gln926=)
|
rs1554813423
|
|
|
NM_000368.5(TSC1):c.2787T>C (p.Tyr929=)
|
rs753980869
|
|
|
NM_000368.5(TSC1):c.2808G>A (p.Gln936=)
|
rs1588290331
|
|
|
NM_000368.5(TSC1):c.2814-18C>T
|
rs1588290161
|
|
|
NM_000368.5(TSC1):c.2868G>A (p.Gln956=)
|
rs2131626958
|
|
|
NM_000368.5(TSC1):c.2874T>C (p.Phe958=)
|
rs2131626672
|
|
|
NM_000368.5(TSC1):c.2878T>C (p.Leu960=)
|
rs766383986
|
|
|
NM_000368.5(TSC1):c.2883G>A (p.Glu961=)
|
rs2131626309
|
|
|
NM_000368.5(TSC1):c.2904G>A (p.Arg968=)
|
rs1554813280
|
|
|
NM_000368.5(TSC1):c.2916T>C (p.Asp972=)
|
rs775179927
|
|
|
NM_000368.5(TSC1):c.2934T>C (p.Leu978=)
|
rs1554813253
|
|
|
NM_000368.5(TSC1):c.295C>T (p.Leu99=)
|
rs2132233679
|
|
|
NM_000368.5(TSC1):c.2997G>A (p.Gly999=)
|
rs1437222540
|
|
|
NM_000368.5(TSC1):c.3018G>T (p.Gly1006=)
|
rs910475358
|
|
|
NM_000368.5(TSC1):c.3024T>C (p.Asn1008=)
|
rs142954164
|
|
|
NM_000368.5(TSC1):c.303A>G (p.Pro101=)
|
rs2132233153
|
|
|
NM_000368.5(TSC1):c.3042C>T (p.His1014=)
|
rs1394343524
|
|
|
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=)
|
rs1380396209
|
|
|
NM_000368.5(TSC1):c.3063C>T (p.Pro1021=)
|
rs2131612277
|
|
|
NM_000368.5(TSC1):c.3066G>A (p.Arg1022=)
|
rs1588287932
|
|
|
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=)
|
rs1588287899
|
|
|
NM_000368.5(TSC1):c.3112AGC[5] (p.Ser1043del)
|
rs2234980
|
|
|
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup)
|
rs2234980
|
|
|
NM_000368.5(TSC1):c.3132G>A (p.Glu1044=)
|
rs1588287426
|
|
|
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val)
|
rs747162992
|
|
|
NM_000368.5(TSC1):c.3141C>A (p.Thr1047=)
|
rs892228756
|
|
|
NM_000368.5(TSC1):c.3165G>A (p.Arg1055=)
|
rs2131604362
|
|
|
NM_000368.5(TSC1):c.3177C>T (p.Phe1059=)
|
rs753263747
|
|
|
NM_000368.5(TSC1):c.3183T>C (p.Ser1061=)
|
rs2131603096
|
|
|
NM_000368.5(TSC1):c.318G>A (p.Lys106=)
|
rs2132232268
|
|
|
NM_000368.5(TSC1):c.3192G>A (p.Glu1064=)
|
rs2131602580
|
|
|
NM_000368.5(TSC1):c.3216C>G (p.Ala1072=)
|
rs118203747
|
|
|
NM_000368.5(TSC1):c.3225C>T (p.Pro1075=)
|
rs2131600409
|
|
|
NM_000368.5(TSC1):c.3228C>A (p.Thr1076=)
|
rs140622357
|
|
|
NM_000368.5(TSC1):c.3243T>A (p.Leu1081=)
|
rs2131599256
|
|
|
NM_000368.5(TSC1):c.3246C>T (p.Pro1082=)
|
rs2131599043
|
|
|
NM_000368.5(TSC1):c.3273G>A (p.Lys1091=)
|
rs2131597498
|
|
|
NM_000368.5(TSC1):c.3276T>G (p.Ala1092=)
|
rs2131597261
|
|
|
NM_000368.5(TSC1):c.3279A>C (p.Arg1093=)
|
rs772288584
|
|
|
NM_000368.5(TSC1):c.327A>G (p.Gln109=)
|
rs2132231769
|
|
|
NM_000368.5(TSC1):c.330A>T (p.Ala110=)
|
rs2132231516
|
|
|
NM_000368.5(TSC1):c.3315T>C (p.Asp1105=)
|
rs2131594829
|
|
|
NM_000368.5(TSC1):c.3336C>T (p.Ser1112=)
|
rs761334590
|
|
|
NM_000368.5(TSC1):c.3396C>G (p.Pro1132=)
|
rs774980129
|
|
|
NM_000368.5(TSC1):c.3399G>T (p.Leu1133=)
|
rs2131589934
|
|
|
NM_000368.5(TSC1):c.33T>C (p.Leu11=)
|
rs1329395556
|
|
|
NM_000368.5(TSC1):c.3403C>T (p.Leu1135=)
|
rs749612772
|
|
|
NM_000368.5(TSC1):c.3423T>C (p.Ser1141=)
|
rs1564469544
|
|
|
NM_000368.5(TSC1):c.3426C>T (p.Pro1142=)
|
rs758286878
|
|
|
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=)
|
rs759431801
|
|
|
NM_000368.5(TSC1):c.342T>G (p.Pro114=)
|
rs754220721
|
|
|
NM_000368.5(TSC1):c.3432C>G (p.Thr1144=)
|
rs1588285980
|
|
|
NM_000368.5(TSC1):c.3432C>T (p.Thr1144=)
|
rs1588285980
|
|
|
NM_000368.5(TSC1):c.3453A>G (p.Leu1151=)
|
rs1554812550
|
|
|
NM_000368.5(TSC1):c.3459C>T (p.Ile1153=)
|
rs1290663446
|
|
|
NM_000368.5(TSC1):c.3471T>C (p.Asn1157=)
|
rs2538420158
|
|
|
NM_000368.5(TSC1):c.3489C>T (p.His1163=)
|
rs1554812527
|
|
|
NM_000368.5(TSC1):c.348A>G (p.Leu116=)
|
rs755799702
|
|
|
NM_000368.5(TSC1):c.349C>T (p.Leu117=)
|
rs1242311755
|
|
|
NM_000368.5(TSC1):c.364-2A>G
|
rs1846685279
|
|
|
NM_000368.5(TSC1):c.396C>T (p.Gly132=)
|
rs368922726
|
|
|
NM_000368.5(TSC1):c.423A>G (p.Pro141=)
|
rs1846677189
|
|
|
NM_000368.5(TSC1):c.42G>A (p.Leu14=)
|
rs762233181
|
|
|
NM_000368.5(TSC1):c.432A>C (p.Pro144=)
|
rs1366888701
|
|
|
NM_000368.5(TSC1):c.444A>G (p.Lys148=)
|
rs2132189552
|
|
|
NM_000368.5(TSC1):c.447G>A (p.Gln149=)
|
rs2132189396
|
|
|
NM_000368.5(TSC1):c.477C>T (p.Gly159=)
|
rs2132187799
|
|
|
NM_000368.5(TSC1):c.483G>A (p.Leu161=)
|
rs1846671974
|
|
|
NM_000368.5(TSC1):c.489A>G (p.Ser163=)
|
rs118203386
|
|
|
NM_000368.5(TSC1):c.489A>T (p.Ser163=)
|
rs118203386
|
|
|
NM_000368.5(TSC1):c.48C>A (p.Ser16=)
|
|
|
|
NM_000368.5(TSC1):c.508+2T>C
|
rs2132185885
|
|
|
NM_000368.5(TSC1):c.516G>A (p.Val172=)
|
rs1419763219
|
|
|
NM_000368.5(TSC1):c.522A>G (p.Glu174=)
|
rs2132161619
|
|
|
NM_000368.5(TSC1):c.525C>G (p.Val175=)
|
rs2132161260
|
|
|
NM_000368.5(TSC1):c.542A>G (p.His181Arg)
|
rs397515294
|
|
|
NM_000368.5(TSC1):c.549T>C (p.Ser183=)
|
rs774398322
|
|
|
NM_000368.5(TSC1):c.558A>G (p.Ala186=)
|
rs2132158268
|
|
|
NM_000368.5(TSC1):c.561C>G (p.Leu187=)
|
rs2132158033
|
|
|
NM_000368.5(TSC1):c.576T>C (p.Tyr192=)
|
rs118203406
|
|
|
NM_000368.5(TSC1):c.585C>T (p.Tyr195=)
|
rs118203407
|
|
|
NM_000368.5(TSC1):c.633A>G (p.Glu211=)
|
rs753550247
|
|
|
NM_000368.5(TSC1):c.639G>A (p.Leu213=)
|
rs2132151091
|
|
|
NM_000368.5(TSC1):c.657G>A (p.Val219=)
|
rs755910789
|
|
|
NM_000368.5(TSC1):c.660C>G (p.Val220=)
|
rs1588346808
|
|
|
NM_000368.5(TSC1):c.660C>T (p.Val220=)
|
rs1588346808
|
|
|
NM_000368.5(TSC1):c.664-3T>C
|
|
|
|
NM_000368.5(TSC1):c.675G>A (p.Glu225=)
|
rs1846548662
|
|
|
NM_000368.5(TSC1):c.693G>A (p.Pro231=)
|
rs749311040
|
|
|
NM_000368.5(TSC1):c.711C>T (p.Ser237=)
|
rs1588345678
|
|
|
NM_000368.5(TSC1):c.720T>C (p.His240=)
|
rs779872953
|
|
|
NM_000368.5(TSC1):c.724C>T (p.Leu242=)
|
rs118203432
|
|
|
NM_000368.5(TSC1):c.756T>G (p.Thr252=)
|
rs2132006065
|
|
|
NM_000368.5(TSC1):c.765T>G (p.Val255=)
|
rs1588327624
|
|
|
NM_000368.5(TSC1):c.786C>T (p.Ile262=)
|
rs779015004
|
|
|
NM_000368.5(TSC1):c.792G>A (p.Leu264=)
|
rs1257538409
|
|
|
NM_000368.5(TSC1):c.807C>T (p.Ala269=)
|
rs766961309
|
|
|
NM_000368.5(TSC1):c.816A>G (p.Glu272=)
|
rs2132001195
|
|
|
NM_000368.5(TSC1):c.81T>C (p.Ala27=)
|
rs1588363327
|
|
|
NM_000368.5(TSC1):c.870C>G (p.Ala290=)
|
rs779155575
|
|
|
NM_000368.5(TSC1):c.870C>T (p.Ala290=)
|
rs779155575
|
|
|
NM_000368.5(TSC1):c.873T>C (p.Asp291=)
|
rs753928162
|
|
|
NM_000368.5(TSC1):c.876C>G (p.Val292=)
|
rs116756594
|
|
|
NM_000368.5(TSC1):c.879C>T (p.Thr293=)
|
rs1554817584
|
|
|
NM_000368.5(TSC1):c.885C>T (p.Ser295=)
|
rs973115696
|
|
|
NM_000368.5(TSC1):c.891T>C (p.Tyr297=)
|
rs118203461
|
|
|
NM_000368.5(TSC1):c.906T>C (p.Asn302=)
|
rs2131993782
|
|
|
NM_000368.5(TSC1):c.90A>G (p.Lys30=)
|
rs1847032608
|
|
|
NM_000368.5(TSC1):c.915G>A (p.Gly305=)
|
rs397515293
|
|
|
NM_000368.5(TSC1):c.915G>C (p.Gly305=)
|
rs397515293
|
|
|
NM_000368.5(TSC1):c.915G>T (p.Gly305=)
|
rs397515293
|
|
|
NM_000368.5(TSC1):c.936C>T (p.Tyr312=)
|
rs118203472
|
|
|
NM_000368.5(TSC1):c.951G>A (p.Leu317=)
|
rs1554817419
|
|
|
NM_000368.5(TSC1):c.957G>A (p.Leu319=)
|
rs1845961446
|
|
|
NM_000368.5(TSC1):c.965_966delinsCT (p.Met322Thr)
|
rs1588324568
|
|
|
NM_000368.5(TSC1):c.965_966inv (p.Met322Thr)
|
|
|
|
NM_000368.5(TSC1):c.969A>G (p.Pro323=)
|
rs1418510093
|
|
|
NM_000368.5(TSC1):c.975G>A (p.Gln325=)
|
rs1554817398
|
|
|
NM_000368.5(TSC1):c.976C>T (p.Leu326=)
|
rs1554817396
|
|
|
NM_000368.5(TSC1):c.996C>T (p.Ser332=)
|
rs1588324281
|
|
|
NM_000368.5(TSC1):c.999A>G (p.Pro333=)
|
rs1192409248
|
|
|
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)
|
rs773970123
|
|
|
NM_000380.4(XPA):c.323G>T (p.Cys108Phe)
|
rs104894131
|
|
|
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)
|
rs1451780491
|
|
|
NM_000382.3(ALDH3A2):c.385+2T>C
|
rs2084819840
|
|
|
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)
|
rs179363882
|
|
|
NM_000383.4(AIRE):c.868del (p.Gln290fs)
|
rs2146379725
|
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
|
NM_000400.4(ERCC2):c.2190+1del
|
rs1476160722
|
|
|
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
|
rs137853097
|
|
|
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr)
|
rs764300456
|
|
|
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter)
|
rs1583169005
|
|
|
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter)
|
rs1789395190
|
|
|
NM_000426.4(LAMA2):c.2749+1G>A
|
rs759555791
|
|
|
NM_000426.4(LAMA2):c.2916del (p.Phe972fs)
|
rs2482334983
|
|
|
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe)
|
rs143680577
|
|
|
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter)
|
rs1778794887
|
|
|
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter)
|
rs1008335405
|
|
|
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter)
|
rs1782333085
|
|
|
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter)
|
rs1784919273
|
|
|
NM_000441.2(SLC26A4):c.1614+1G>T
|
rs111033312
|
|
|
NM_000441.2(SLC26A4):c.2T>G (p.Met1Arg)
|
rs111033302
|
|
|
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)
|
rs111033199
|
|
|
NM_000455.5(STK11):c.*6G>A
|
rs1057523753
|
|
|
NM_000455.5(STK11):c.*9G>A
|
rs1057522868
|
|
|
NM_000455.5(STK11):c.1002C>T (p.Ser334=)
|
rs1057521267
|
|
|
NM_000455.5(STK11):c.1008T>C (p.Thr336=)
|
rs878853981
|
|
|
NM_000455.5(STK11):c.1014G>A (p.Val338=)
|
rs375462277
|
|
|
NM_000455.5(STK11):c.1017G>C (p.Pro339=)
|
rs773049570
|
|
|
NM_000455.5(STK11):c.1026G>A (p.Glu342=)
|
rs1195673013
|
|
|
NM_000455.5(STK11):c.102C>G (p.Val34=)
|
rs1060503784
|
|
|
NM_000455.5(STK11):c.1030C>T (p.Leu344=)
|
rs2145431096
|
|
|
NM_000455.5(STK11):c.1032G>A (p.Leu344=)
|
rs371928158
|
|
|
NM_000455.5(STK11):c.1042del (p.Asp348fs)
|
rs2512949158
|
|
|
NM_000455.5(STK11):c.1047G>A (p.Glu349=)
|
rs2080797337
|
|
|
NM_000455.5(STK11):c.1056C>T (p.Asp352=)
|
rs768217700
|
|
|
NM_000455.5(STK11):c.1059C>T (p.Leu353=)
|
rs757771824
|
|
|
NM_000455.5(STK11):c.105C>A (p.Ile35=)
|
rs1060503783
|
|
|
NM_000455.5(STK11):c.105C>T (p.Ile35=)
|
rs1060503783
|
|
|
NM_000455.5(STK11):c.1062C>T (p.Phe354=)
|
rs59912467
|
|
|
NM_000455.5(STK11):c.1065C>T (p.Asp355=)
|
rs577581156
|
|
|
NM_000455.5(STK11):c.1068C>A (p.Ile356=)
|
rs187744790
|
|
|
NM_000455.5(STK11):c.1071G>A (p.Glu357=)
|
rs556651007
|
|
|
NM_000455.5(STK11):c.1077C>T (p.Asp359=)
|
rs1321578734
|
|
|
NM_000455.5(STK11):c.1080C>T (p.Ile360=)
|
rs2145431392
|
|
|
NM_000455.5(STK11):c.1086C>T (p.Tyr362=)
|
rs2145431412
|
|
|
NM_000455.5(STK11):c.1089T>C (p.Thr363=)
|
rs876658309
|
|
|
NM_000455.5(STK11):c.1092G>A (p.Gln364=)
|
rs1555739339
|
|
|
NM_000455.5(STK11):c.1098C>T (p.Phe366=)
|
rs2080798043
|
|
|
NM_000455.5(STK11):c.1109-16_1109-15delinsTG
|
rs2512954543
|
|
|
NM_000455.5(STK11):c.1113G>A (p.Gln371=)
|
rs587780714
|
|
|
NM_000455.5(STK11):c.1119A>G (p.Pro373=)
|
rs2145435840
|
|
|
NM_000455.5(STK11):c.1122A>G (p.Glu374=)
|
rs1599932051
|
|
|
NM_000455.5(STK11):c.1134T>C (p.Ser378=)
|
|
|
|
NM_000455.5(STK11):c.1140T>C (p.Asn380=)
|
rs1057521658
|
|
|
NM_000455.5(STK11):c.1149C>T (p.Arg383=)
|
rs2145435963
|
|
|
NM_000455.5(STK11):c.1152G>A (p.Arg384=)
|
rs786201491
|
|
|
NM_000455.5(STK11):c.1152G>T (p.Arg384=)
|
rs786201491
|
|
|
NM_000455.5(STK11):c.1155C>T (p.Gly385=)
|
rs2145435988
|
|
|
NM_000455.5(STK11):c.1161C>A (p.Pro387=)
|
rs1427783283
|
|
|
NM_000455.5(STK11):c.1167C>T (p.Ala389=)
|
rs547919101
|
|
|
NM_000455.5(STK11):c.1170G>A (p.Val390=)
|
rs367911165
|
|
|
NM_000455.5(STK11):c.117C>G (p.Arg39=)
|
rs786203942
|
|
|
NM_000455.5(STK11):c.117C>T (p.Arg39=)
|
rs786203942
|
|
|
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)
|
rs768780695
|
|
|
NM_000455.5(STK11):c.1191G>A (p.Ala397=)
|
rs774759899
|
|
|
NM_000455.5(STK11):c.1191G>C (p.Ala397=)
|
rs774759899
|
|
|
NM_000455.5(STK11):c.1191G>T (p.Ala397=)
|
rs774759899
|
|
|
NM_000455.5(STK11):c.1194G>T (p.Ala398=)
|
rs184271025
|
|
|
NM_000455.5(STK11):c.1206C>T (p.Thr402=)
|
rs758129211
|
|
|
NM_000455.5(STK11):c.120C>T (p.Arg40=)
|
rs878853984
|
|
|
NM_000455.5(STK11):c.1212C>A (p.Ser404=)
|
rs754945004
|
|
|
NM_000455.5(STK11):c.1212C>T (p.Ser404=)
|
rs754945004
|
|
|
NM_000455.5(STK11):c.1215G>A (p.Arg405=)
|
rs781303270
|
|
|
NM_000455.5(STK11):c.1218G>C (p.Ala406=)
|
rs769772524
|
|
|
NM_000455.5(STK11):c.1224C>T (p.Gly408=)
|
rs1555740206
|
|
|
NM_000455.5(STK11):c.1225C>A (p.Arg409=)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1230C>A (p.Ala410=)
|
rs864622171
|
|
|
NM_000455.5(STK11):c.1230C>T (p.Ala410=)
|
rs864622171
|
|
|
NM_000455.5(STK11):c.1236C>T (p.Asn412=)
|
rs1158714606
|
|
|
NM_000455.5(STK11):c.1239T>A (p.Pro413=)
|
rs786201330
|
|
|
NM_000455.5(STK11):c.1239T>C (p.Pro413=)
|
rs786201330
|
|
|
NM_000455.5(STK11):c.1242C>T (p.Ala414=)
|
rs2512955209
|
|
|
NM_000455.5(STK11):c.1245C>A (p.Arg415=)
|
rs878853985
|
|
|
NM_000455.5(STK11):c.1248G>A (p.Lys416=)
|
|
|
|
NM_000455.5(STK11):c.1260C>A (p.Ala420=)
|
rs2145436473
|
|
|
NM_000455.5(STK11):c.1262GCA[1] (p.Ser422del)
|
rs587782439
|
|
|
NM_000455.5(STK11):c.1266C>T (p.Ser422=)
|
rs751352435
|
|
|
NM_000455.5(STK11):c.1272C>A (p.Ile424=)
|
rs2145436544
|
|
|
NM_000455.5(STK11):c.1272C>T (p.Ile424=)
|
rs2145436544
|
|
|
NM_000455.5(STK11):c.1275C>T (p.Arg425=)
|
rs2145436556
|
|
|
NM_000455.5(STK11):c.1276C>A (p.Arg426=)
|
rs587782687
|
|
|
NM_000455.5(STK11):c.1276C>G (p.Arg426Gly)
|
rs587782687
|
|
|
NM_000455.5(STK11):c.1279C>T (p.Leu427=)
|
rs1222940657
|
|
|
NM_000455.5(STK11):c.1283C>G (p.Ser428Trp)
|
rs587781537
|
|
|
NM_000455.5(STK11):c.1284G>C (p.Ser428=)
|
rs369097329
|
|
|
NM_000455.5(STK11):c.1284G>T (p.Ser428=)
|
rs369097329
|
|
|
NM_000455.5(STK11):c.1293G>A (p.Lys431=)
|
rs1060503787
|
|
|
NM_000455.5(STK11):c.129C>G (p.Ala43=)
|
rs1555734970
|
|
|
NM_000455.5(STK11):c.12G>A (p.Val4=)
|
rs1379886566
|
|
|
NM_000455.5(STK11):c.12G>C (p.Val4=)
|
rs1379886566
|
|
|
NM_000455.5(STK11):c.138C>T (p.Ile46=)
|
rs2080671593
|
|
|
NM_000455.5(STK11):c.156G>A (p.Gly52=)
|
rs1060499953
|
|
|
NM_000455.5(STK11):c.159C>T (p.Asp53=)
|
rs876660426
|
|
|
NM_000455.5(STK11):c.171A>G (p.Glu57=)
|
rs1060503785
|
|
|
NM_000455.5(STK11):c.183C>T (p.Gly61=)
|
rs2512921322
|
|
|
NM_000455.5(STK11):c.189G>A (p.Val63=)
|
rs1342321548
|
|
|
NM_000455.5(STK11):c.18G>C (p.Pro6=)
|
rs1555734869
|
|
|
NM_000455.5(STK11):c.192G>A (p.Lys64=)
|
rs2145405404
|
|
|
NM_000455.5(STK11):c.204C>T (p.Asp68=)
|
rs1337286592
|
|
|
NM_000455.5(STK11):c.207G>A (p.Ser69=)
|
rs746735912
|
|
|
NM_000455.5(STK11):c.213G>A (p.Thr71=)
|
|
|
|
NM_000455.5(STK11):c.213G>C (p.Thr71=)
|
rs768532101
|
|
|
NM_000455.5(STK11):c.216G>T (p.Leu72=)
|
rs1057524353
|
|
|
NM_000455.5(STK11):c.21G>A (p.Gln7=)
|
|
|
|
NM_000455.5(STK11):c.223A>C (p.Arg75=)
|
rs1599915199
|
|
|
NM_000455.5(STK11):c.228C>T (p.Ala76=)
|
rs763166927
|
|
|
NM_000455.5(STK11):c.237C>A (p.Ile79=)
|
rs751859508
|
|
|
NM_000455.5(STK11):c.240C>T (p.Leu80=)
|
rs2145405739
|
|
|
NM_000455.5(STK11):c.24G>A (p.Gln8=)
|
rs1379630288
|
|
|
NM_000455.5(STK11):c.255G>A (p.Leu85=)
|
rs1599915264
|
|
|
NM_000455.5(STK11):c.258A>G (p.Arg86=)
|
rs2145405874
|
|
|
NM_000455.5(STK11):c.264C>T (p.Ile88=)
|
rs56354945
|
|
|
NM_000455.5(STK11):c.270C>T (p.Asn90=)
|
rs1555735064
|
|
|
NM_000455.5(STK11):c.273G>A (p.Gly91=)
|
rs1244118815
|
|
|
NM_000455.5(STK11):c.27G>A (p.Leu9=)
|
rs876659432
|
|
|
NM_000455.5(STK11):c.285G>T (p.Val95=)
|
rs1354586362
|
|
|
NM_000455.5(STK11):c.288G>A (p.Lys96=)
|
rs1599915310
|
|
|
NM_000455.5(STK11):c.301C>T (p.Leu101=)
|
rs587780716
|
|
|
NM_000455.5(STK11):c.303A>G (p.Leu101=)
|
rs1057522543
|
|
|
NM_000455.5(STK11):c.304C>T (p.Leu102=)
|
rs1364363777
|
|
|
NM_000455.5(STK11):c.306G>T (p.Leu102=)
|
rs370130178
|
|
|
NM_000455.5(STK11):c.309G>A (p.Arg103=)
|
rs2145420591
|
|
|
NM_000455.5(STK11):c.30C>T (p.Gly10=)
|
rs876660012
|
|
|
NM_000455.5(STK11):c.318G>C (p.Arg106=)
|
rs777784520
|
|
|
NM_000455.5(STK11):c.318G>T (p.Arg106=)
|
rs777784520
|
|
|
NM_000455.5(STK11):c.330C>A (p.Val110=)
|
rs368548358
|
|
|
NM_000455.5(STK11):c.330C>T (p.Val110=)
|
rs368548358
|
|
|
NM_000455.5(STK11):c.339G>A (p.Leu113=)
|
rs2145420721
|
|
|
NM_000455.5(STK11):c.345T>C (p.Asp115=)
|
rs2145420737
|
|
|
NM_000455.5(STK11):c.348G>A (p.Val116=)
|
rs774482643
|
|
|
NM_000455.5(STK11):c.348G>C (p.Val116=)
|
rs774482643
|
|
|
NM_000455.5(STK11):c.351A>G (p.Leu117=)
|
rs2080758837
|
|
|
NM_000455.5(STK11):c.354C>T (p.Tyr118=)
|
rs1555737439
|
|
|
NM_000455.5(STK11):c.363G>A (p.Glu121=)
|
rs864622574
|
|
|
NM_000455.5(STK11):c.36C>T (p.Phe12=)
|
rs2145404533
|
|
|
NM_000455.5(STK11):c.375-5C>T
|
rs1057517626
|
|
|
NM_000455.5(STK11):c.384G>C (p.Val128=)
|
rs1599925298
|
|
|
NM_000455.5(STK11):c.393C>T (p.Tyr131=)
|
rs760399253
|
|
|
NM_000455.5(STK11):c.399G>A (p.Val133=)
|
rs757021648
|
|
|
NM_000455.5(STK11):c.399G>T (p.Val133=)
|
rs757021648
|
|
|
NM_000455.5(STK11):c.402T>C (p.Cys134=)
|
rs778868074
|
|
|
NM_000455.5(STK11):c.420G>C (p.Leu140=)
|
rs2145422349
|
|
|
NM_000455.5(STK11):c.432G>T (p.Pro144=)
|
rs376788924
|
|
|
NM_000455.5(STK11):c.435G>A (p.Glu145=)
|
rs1555737810
|
|
|
NM_000455.5(STK11):c.450G>A (p.Val150=)
|
rs1555737821
|
|
|
NM_000455.5(STK11):c.456G>A (p.Gln152=)
|
rs1599925457
|
|
|
NM_000455.5(STK11):c.459C>T (p.Ala153=)
|
rs1191357643
|
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
|
NM_000455.5(STK11):c.480G>A (p.Leu160=)
|
|
|
|
NM_000455.5(STK11):c.486C>T (p.Asp162=)
|
rs1269329328
|
|
|
NM_000455.5(STK11):c.489C>T (p.Gly163=)
|
rs1060499959
|
|
|
NM_000455.5(STK11):c.490C>T (p.Leu164=)
|
rs2080774116
|
|
|
NM_000455.5(STK11):c.492G>A (p.Leu164=)
|
rs2145424221
|
|
|
NM_000455.5(STK11):c.513C>T (p.Gly171=)
|
rs2145424303
|
|
|
NM_000455.5(STK11):c.516T>C (p.Ile172=)
|
rs1599926504
|
|
|
NM_000455.5(STK11):c.519G>A (p.Val173=)
|
rs2145424320
|
|
|
NM_000455.5(STK11):c.51G>A (p.Leu17=)
|
rs747435838
|
|
|
NM_000455.5(STK11):c.525G>A (p.Lys175=)
|
|
|
|
NM_000455.5(STK11):c.528C>T (p.Asp176=)
|
rs876658393
|
|
|
NM_000455.5(STK11):c.531C>T (p.Ile177=)
|
rs1264449076
|
|
|
NM_000455.5(STK11):c.537G>A (p.Pro179=)
|
rs528535500
|
|
|
NM_000455.5(STK11):c.537G>T (p.Pro179=)
|
rs528535500
|
|
|
NM_000455.5(STK11):c.544C>T (p.Leu182=)
|
rs1057522875
|
|
|
NM_000455.5(STK11):c.547C>T (p.Leu183=)
|
rs2145424469
|
|
|
NM_000455.5(STK11):c.549G>A (p.Leu183=)
|
rs1446789323
|
|
|
NM_000455.5(STK11):c.555C>T (p.Thr185=)
|
rs1060503781
|
|
|
NM_000455.5(STK11):c.558C>A (p.Thr186=)
|
rs749563734
|
|
|
NM_000455.5(STK11):c.558C>G (p.Thr186=)
|
rs749563734
|
|
|
NM_000455.5(STK11):c.558C>T (p.Thr186=)
|
rs749563734
|
|
|
NM_000455.5(STK11):c.564C>T (p.Gly188=)
|
rs786201344
|
|
|
NM_000455.5(STK11):c.567C>T (p.Thr189=)
|
rs2145424574
|
|
|
NM_000455.5(STK11):c.570C>G (p.Leu190=)
|
rs937650956
|
|
|
NM_000455.5(STK11):c.570C>T (p.Leu190=)
|
rs937650956
|
|
|
NM_000455.5(STK11):c.579C>A (p.Ser193=)
|
rs730881961
|
|
|
NM_000455.5(STK11):c.57G>A (p.Ser19=)
|
rs748698151
|
|
|
NM_000455.5(STK11):c.57G>T (p.Ser19=)
|
rs748698151
|
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
|
NM_000455.5(STK11):c.582C>T (p.Asp194=)
|
rs786202134
|
|
|
NM_000455.5(STK11):c.583C>T (p.Leu195=)
|
rs1555738276
|
|
|
NM_000455.5(STK11):c.585G>A (p.Leu195=)
|
rs2080775062
|
|
|
NM_000455.5(STK11):c.597+10_597+11insCTAG
|
|
|
|
NM_000455.5(STK11):c.598-11C>T
|
rs587782431
|
|
|
NM_000455.5(STK11):c.603G>A (p.Leu201=)
|
rs1599926767
|
|
|
NM_000455.5(STK11):c.603G>T (p.Leu201=)
|
|
|
|
NM_000455.5(STK11):c.609G>C (p.Pro203=)
|
rs786201228
|
|
|
NM_000455.5(STK11):c.609G>T (p.Pro203=)
|
rs786201228
|
|
|
NM_000455.5(STK11):c.618G>C (p.Ala206=)
|
rs370976710
|
|
|
NM_000455.5(STK11):c.618G>T (p.Ala206=)
|
rs370976710
|
|
|
NM_000455.5(STK11):c.630C>T (p.Cys210=)
|
rs786201213
|
|
|
NM_000455.5(STK11):c.639C>T (p.Ser213=)
|
rs1555738391
|
|
|
NM_000455.5(STK11):c.645C>G (p.Gly215=)
|
rs1599926859
|
|
|
NM_000455.5(STK11):c.648C>A (p.Ser216=)
|
rs376083300
|
|
|
NM_000455.5(STK11):c.654T>A (p.Ala218=)
|
rs2145425219
|
|
|
NM_000455.5(STK11):c.666C>G (p.Pro222=)
|
rs542189325
|
|
|
NM_000455.5(STK11):c.672T>A (p.Ile224=)
|
rs1230000936
|
|
|
NM_000455.5(STK11):c.675C>T (p.Ala225=)
|
rs1599926917
|
|
|
NM_000455.5(STK11):c.681C>T (p.Gly227=)
|
rs786201485
|
|
|
NM_000455.5(STK11):c.682C>T (p.Leu228=)
|
rs1599926930
|
|
|
NM_000455.5(STK11):c.684G>A (p.Leu228=)
|
rs1599926937
|
|
|
NM_000455.5(STK11):c.690C>T (p.Thr230=)
|
rs1057520971
|
|
|
NM_000455.5(STK11):c.693C>T (p.Phe231=)
|
rs1568708275
|
|
|
NM_000455.5(STK11):c.699C>G (p.Gly233=)
|
rs1490687998
|
|
|
NM_000455.5(STK11):c.702C>T (p.Phe234=)
|
rs1555738452
|
|
|
NM_000455.5(STK11):c.720G>T (p.Ser240=)
|
rs759743897
|
|
|
NM_000455.5(STK11):c.721G>A (p.Ala241Thr)
|
rs587780721
|
|
|
NM_000455.5(STK11):c.726G>T (p.Gly242=)
|
rs776823114
|
|
|
NM_000455.5(STK11):c.729C>A (p.Val243=)
|
rs2145425531
|
|
|
NM_000455.5(STK11):c.72G>A (p.Thr24=)
|
rs2145404738
|
|
|
NM_000455.5(STK11):c.732C>T (p.Thr244=)
|
rs1461624637
|
|
|
NM_000455.5(STK11):c.734+1G>T
|
rs587782018
|
|
|
NM_000455.5(STK11):c.735-16_735-15del
|
rs775965325
|
|
|
NM_000455.5(STK11):c.735-1G>A
|
rs1057517830
|
|
|
NM_000455.5(STK11):c.735-6_735-2del
|
rs759090799
|
|
|
NM_000455.5(STK11):c.738C>T (p.Tyr246=)
|
rs137853083
|
|
|
NM_000455.5(STK11):c.741C>T (p.Asn247=)
|
rs754761142
|
|
|
NM_000455.5(STK11):c.747C>T (p.Thr249=)
|
rs759546076
|
|
|
NM_000455.5(STK11):c.754C>T (p.Leu252=)
|
rs1363669559
|
|
|
NM_000455.5(STK11):c.756G>A (p.Leu252=)
|
rs786201544
|
|
|
NM_000455.5(STK11):c.759C>T (p.Tyr253=)
|
rs137853075
|
|
|
NM_000455.5(STK11):c.75C>T (p.Phe25=)
|
rs1466484547
|
|
|
NM_000455.5(STK11):c.762C>G (p.Pro254=)
|
rs1555738623
|
|
|
NM_000455.5(STK11):c.762C>T (p.Pro254=)
|
rs1555738623
|
|
|
NM_000455.5(STK11):c.771G>C (p.Gly257=)
|
rs777998890
|
|
|
NM_000455.5(STK11):c.777C>T (p.Asn259=)
|
rs786201105
|
|
|
NM_000455.5(STK11):c.780C>T (p.Ile260=)
|
rs876658493
|
|
|
NM_000455.5(STK11):c.783C>T (p.Tyr261=)
|
rs1555738647
|
|
|
NM_000455.5(STK11):c.792T>C (p.Phe264=)
|
rs1599927625
|
|
|
NM_000455.5(STK11):c.807G>A (p.Lys269=)
|
rs1057523146
|
|
|
NM_000455.5(STK11):c.810G>T (p.Gly270=)
|
|
|
|
NM_000455.5(STK11):c.825G>T (p.Pro275=)
|
rs202011521
|
|
|
NM_000455.5(STK11):c.828C>A (p.Gly276=)
|
rs200824447
|
|
|
NM_000455.5(STK11):c.837C>A (p.Gly279=)
|
rs373021819
|
|
|
NM_000455.5(STK11):c.837C>G (p.Gly279=)
|
rs373021819
|
|
|
NM_000455.5(STK11):c.840C>A (p.Pro280=)
|
rs1471868090
|
|
|
NM_000455.5(STK11):c.840C>T (p.Pro280=)
|
rs1471868090
|
|
|
NM_000455.5(STK11):c.849T>C (p.Ser283=)
|
rs876658659
|
|
|
NM_000455.5(STK11):c.852C>T (p.Asp284=)
|
rs2145427244
|
|
|
NM_000455.5(STK11):c.853C>T (p.Leu285=)
|
rs749344634
|
|
|
NM_000455.5(STK11):c.855G>A (p.Leu285=)
|
rs1599927757
|
|
|
NM_000455.5(STK11):c.855G>C (p.Leu285=)
|
rs1599927757
|
|
|
NM_000455.5(STK11):c.856C>T (p.Leu286=)
|
rs2145427271
|
|
|
NM_000455.5(STK11):c.862+3G>A
|
rs2145427312
|
|
|
NM_000455.5(STK11):c.862+4G>A
|
rs1555738736
|
|
|
NM_000455.5(STK11):c.864G>A (p.Gly288=)
|
rs2080787350
|
|
|
NM_000455.5(STK11):c.869T>C (p.Leu290Pro)
|
rs1057524439
|
|
|
NM_000455.5(STK11):c.870T>G (p.Leu290=)
|
rs876660056
|
|
|
NM_000455.5(STK11):c.87C>T (p.Ile29=)
|
rs745530022
|
|
|
NM_000455.5(STK11):c.889A>C (p.Arg297=)
|
rs730881978
|
|
|
NM_000455.5(STK11):c.891G>T (p.Arg297Ser)
|
rs730881984
|
|
|
NM_000455.5(STK11):c.894C>G (p.Phe298Leu)
|
rs199681533
|
|
|
NM_000455.5(STK11):c.910C>T (p.Arg304Trp)
|
rs786201090
|
|
|
NM_000455.5(STK11):c.911G>C (p.Arg304Pro)
|
rs376280361
|
|
|
NM_000455.5(STK11):c.915G>A (p.Gln305=)
|
rs1297148927
|
|
|
NM_000455.5(STK11):c.920+1G>A
|
rs1131690920
|
|
|
NM_000455.5(STK11):c.920+3G>A
|
rs2080788122
|
|
|
NM_000455.5(STK11):c.920+7G>A
|
rs2075607
|
|
|
NM_000455.5(STK11):c.920+7_920+8delinsCA
|
rs1057517545
|
|
|
NM_000455.5(STK11):c.930G>A (p.Arg310=)
|
rs2080795732
|
|
|
NM_000455.5(STK11):c.930G>C (p.Arg310=)
|
rs2080795732
|
|
|
NM_000455.5(STK11):c.933G>A (p.Lys311=)
|
rs1409790643
|
|
|
NM_000455.5(STK11):c.93C>A (p.Ser31=)
|
rs775258601
|
|
|
NM_000455.5(STK11):c.93C>T (p.Ser31=)
|
rs775258601
|
|
|
NM_000455.5(STK11):c.942T>C (p.Pro314=)
|
rs1256260277
|
|
|
NM_000455.5(STK11):c.945G>T (p.Pro315=)
|
rs376329042
|
|
|
NM_000455.5(STK11):c.951A>G (p.Glu317=)
|
rs2145430729
|
|
|
NM_000455.5(STK11):c.954A>C (p.Ala318=)
|
rs1555739188
|
|
|
NM_000455.5(STK11):c.96C>G (p.Thr32=)
|
rs79175212
|
|
|
NM_000455.5(STK11):c.96C>T (p.Thr32=)
|
rs79175212
|
|
|
NM_000455.5(STK11):c.978A>G (p.Pro326=)
|
rs1555739204
|
|
|
NM_000455.5(STK11):c.987G>A (p.Lys329=)
|
rs1555739210
|
|
|
NM_000455.5(STK11):c.990C>T (p.Asp330=)
|
rs786201811
|
|
|
NM_000455.5(STK11):c.993G>A (p.Arg331=)
|
rs1599929398
|
|
|
NM_000455.5(STK11):c.999C>T (p.Arg333=)
|
|
|
|
NM_000455.5(STK11):c.99G>A (p.Glu33=)
|
rs863224363
|
|
|
NM_000455.5(STK11):c.9G>A (p.Val3=)
|
rs1555734857
|
|
|
NM_000465.4(BARD1):c.1005A>G (p.Arg335=)
|
rs1574818013
|
|
|
NM_000465.4(BARD1):c.1017C>T (p.Ser339=)
|
rs2106109206
|
|
|
NM_000465.4(BARD1):c.1023G>A (p.Leu341=)
|
rs1553622298
|
|
|
NM_000465.4(BARD1):c.1029C>A (p.Thr343=)
|
rs35513316
|
|
|
NM_000465.4(BARD1):c.1035A>C (p.Gly345=)
|
rs1553622290
|
|
|
NM_000465.4(BARD1):c.1035A>G (p.Gly345=)
|
rs1553622290
|
|
|
NM_000465.4(BARD1):c.1038T>C (p.Asp346=)
|
rs1574817811
|
|
|
NM_000465.4(BARD1):c.1050A>G (p.Gln350=)
|
rs1060501277
|
|
|
NM_000465.4(BARD1):c.1053G>A (p.Thr351=)
|
rs2070096
|
|
|
NM_000465.4(BARD1):c.1053G>T (p.Thr351=)
|
rs2070096
|
|
|
NM_000465.4(BARD1):c.1056G>A (p.Val352=)
|
rs768469265
|
|
|
NM_000465.4(BARD1):c.1056G>T (p.Val352=)
|
rs768469265
|
|
|
NM_000465.4(BARD1):c.1059C>A (p.Pro353=)
|
rs368649242
|
|
|
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)
|
rs786202559
|
|
|
NM_000465.4(BARD1):c.1062A>G (p.Ser354=)
|
rs1057521964
|
|
|
NM_000465.4(BARD1):c.1065A>G (p.Glu355=)
|
rs1553622270
|
|
|
NM_000465.4(BARD1):c.1069dup (p.Ile357fs)
|
rs2106108903
|
|
|
NM_000465.4(BARD1):c.1071A>C (p.Ile357=)
|
rs786202366
|
|
|
NM_000465.4(BARD1):c.1074A>G (p.Pro358=)
|
rs1553622258
|
|
|
NM_000465.4(BARD1):c.1075T>C (p.Leu359=)
|
rs1694964207
|
|
|
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)
|
rs28997575
|
|
|
NM_000465.4(BARD1):c.1080T>C (p.Pro360=)
|
rs2106108809
|
|
|
NM_000465.4(BARD1):c.1101A>G (p.Ser367=)
|
rs876659194
|
|
|
NM_000465.4(BARD1):c.1104C>T (p.Cys368=)
|
rs371147849
|
|
|
NM_000465.4(BARD1):c.1125A>C (p.Thr375=)
|
rs1553622237
|
|
|
NM_000465.4(BARD1):c.1125A>T (p.Thr375=)
|
rs1553622237
|
|
|
NM_000465.4(BARD1):c.1128A>G (p.Ser376=)
|
rs1370139675
|
|
|
NM_000465.4(BARD1):c.1131G>A (p.Gly377=)
|
rs1574817193
|
|
|
NM_000465.4(BARD1):c.1131G>C (p.Gly377=)
|
rs1574817193
|
|
|
NM_000465.4(BARD1):c.1134G>A (p.Arg378=)
|
rs2229571
|
|
|
NM_000465.4(BARD1):c.1140C>T (p.Asn380=)
|
rs2106108484
|
|
|
NM_000465.4(BARD1):c.1152C>G (p.Ser384=)
|
rs368291318
|
|
|
NM_000465.4(BARD1):c.1155T>C (p.Asp385=)
|
rs2106108419
|
|
|
NM_000465.4(BARD1):c.1158A>G (p.Glu386=)
|
rs769665688
|
|
|
NM_000465.4(BARD1):c.1161C>T (p.Phe387=)
|
rs553790960
|
|
|
NM_000465.4(BARD1):c.117C>G (p.Ala39=)
|
rs786202271
|
|
|
NM_000465.4(BARD1):c.117C>T (p.Ala39=)
|
rs786202271
|
|
|
NM_000465.4(BARD1):c.1188T>C (p.Pro396=)
|
rs876658498
|
|
|
NM_000465.4(BARD1):c.120G>C (p.Ala40=)
|
rs1559454255
|
|
|
NM_000465.4(BARD1):c.120G>T (p.Ala40=)
|
rs1559454255
|
|
|
NM_000465.4(BARD1):c.1215G>A (p.Arg405=)
|
rs1180710928
|
|
|
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs)
|
rs1553622160
|
|
|
NM_000465.4(BARD1):c.1233C>T (p.Pro411=)
|
rs752186689
|
|
|
NM_000465.4(BARD1):c.123C>G (p.Leu41=)
|
rs764410072
|
|
|
NM_000465.4(BARD1):c.123C>T (p.Leu41=)
|
rs764410072
|
|
|
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)
|
rs1553622145
|
|
|
NM_000465.4(BARD1):c.1248G>A (p.Leu416=)
|
rs1426931125
|
|
|
NM_000465.4(BARD1):c.1266G>T (p.Val422=)
|
rs1574816160
|
|
|
NM_000465.4(BARD1):c.1269A>G (p.Lys423=)
|
rs775490960
|
|
|
NM_000465.4(BARD1):c.126C>T (p.Asp42=)
|
rs2106170963
|
|
|
NM_000465.4(BARD1):c.1278T>C (p.His426=)
|
rs2106107680
|
|
|
NM_000465.4(BARD1):c.1293G>A (p.Leu431=)
|
rs1469464372
|
|
|
NM_000465.4(BARD1):c.1296C>G (p.Leu432=)
|
rs1694937169
|
|
|
NM_000465.4(BARD1):c.12T>C (p.Asn4=)
|
rs1289598310
|
|
|
NM_000465.4(BARD1):c.1308T>A (p.Ser436=)
|
rs786203605
|
|
|
NM_000465.4(BARD1):c.1308T>C (p.Ser436=)
|
rs786203605
|
|
|
NM_000465.4(BARD1):c.130C>T (p.Leu44=)
|
rs876658807
|
|
|
NM_000465.4(BARD1):c.1311T>C (p.Ile437=)
|
rs876659789
|
|
|
NM_000465.4(BARD1):c.1314+1G>A
|
rs753785671
|
|
|
NM_000465.4(BARD1):c.1315-19_1315-18inv
|
|
|
|
NM_000465.4(BARD1):c.1315-5del
|
rs2106081615
|
|
|
NM_000465.4(BARD1):c.1320C>T (p.Asp440=)
|
rs780136325
|
|
|
NM_000465.4(BARD1):c.1329T>A (p.Ser443=)
|
rs767154578
|
|
|
NM_000465.4(BARD1):c.1329del (p.Val444fs)
|
rs767587416
|
|
|
NM_000465.4(BARD1):c.1338C>T (p.Tyr446=)
|
rs761702998
|
|
|
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
|
rs1553628365
|
|
|
NM_000465.4(BARD1):c.1345del (p.Gln449fs)
|
rs2106081379
|
|
|
NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs)
|
rs1553619713
|
|
|
NM_000465.4(BARD1):c.1349dup (p.Asn450fs)
|
rs876660390
|
|
|
NM_000465.4(BARD1):c.1350T>C (p.Asn450=)
|
rs876660753
|
|
|
NM_000465.4(BARD1):c.1353A>G (p.Gly451=)
|
rs369564500
|
|
|
NM_000465.4(BARD1):c.135G>A (p.Glu45=)
|
rs2469637671
|
|
|
NM_000465.4(BARD1):c.1392A>C (p.Pro464=)
|
rs2106081063
|
|
|
NM_000465.4(BARD1):c.1392A>G (p.Pro464=)
|
rs2106081063
|
|
|
NM_000465.4(BARD1):c.1396-22_1396-19del
|
rs765080315
|
|
|
NM_000465.4(BARD1):c.1396-27_1396-19del
|
rs2469445143
|
|
|
NM_000465.4(BARD1):c.13C>A (p.Arg5=)
|
rs766441081
|
|
|
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)
|
rs1553619349
|
|
|
NM_000465.4(BARD1):c.1407C>T (p.Cys469=)
|
rs1553619349
|
|
|
NM_000465.4(BARD1):c.1410T>C (p.Asn470=)
|
|
|
|
NM_000465.4(BARD1):c.1413T>C (p.His471=)
|
rs1574789071
|
|
|
NM_000465.4(BARD1):c.1419C>T (p.His473=)
|
rs786203473
|
|
|
NM_000465.4(BARD1):c.1420C>T (p.Leu474=)
|
rs1183978479
|
|
|
NM_000465.4(BARD1):c.1425G>A (p.Lys475=)
|
rs1057522431
|
|
|
NM_000465.4(BARD1):c.1428A>G (p.Val476=)
|
rs1057522429
|
|
|
NM_000465.4(BARD1):c.1438T>C (p.Leu480=)
|
rs786203220
|
|
|
NM_000465.4(BARD1):c.1443C>G (p.Leu481=)
|
rs1286691671
|
|
|
NM_000465.4(BARD1):c.144G>T (p.Leu48=)
|
rs151168457
|
|
|
NM_000465.4(BARD1):c.1455A>G (p.Ala485=)
|
rs1553619298
|
|
|
NM_000465.4(BARD1):c.1455A>T (p.Ala485=)
|
rs1553619298
|
|
|
NM_000465.4(BARD1):c.1461G>T (p.Val487=)
|
rs1694272372
|
|
|
NM_000465.4(BARD1):c.1464C>T (p.Asn488=)
|
rs1694271901
|
|
|
NM_000465.4(BARD1):c.1467C>A (p.Thr489=)
|
rs1694271621
|
|
|
NM_000465.4(BARD1):c.1467C>T (p.Thr489=)
|
rs1694271621
|
|
|
NM_000465.4(BARD1):c.1473G>T (p.Gly491=)
|
rs151080730
|
|
|
NM_000465.4(BARD1):c.1479A>G (p.Gln493=)
|
rs375029767
|
|
|
NM_000465.4(BARD1):c.147C>A (p.Arg49=)
|
rs1060504191
|
|
|
NM_000465.4(BARD1):c.1500T>C (p.Asp500=)
|
rs1694266892
|
|
|
NM_000465.4(BARD1):c.150C>T (p.Cys50=)
|
rs2106170807
|
|
|
NM_000465.4(BARD1):c.1519G>A (p.Val507Met)
|
rs2070094
|
|
|
NM_000465.4(BARD1):c.1530C>T (p.Val510=)
|
rs2469442873
|
|
|
NM_000465.4(BARD1):c.1536G>C (p.Leu512=)
|
rs2106076362
|
|
|
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)
|
rs2106076340
|
|
|
NM_000465.4(BARD1):c.153G>A (p.Ser51=)
|
rs761103724
|
|
|
NM_000465.4(BARD1):c.1545C>G (p.Ser515=)
|
rs777715537
|
|
|
NM_000465.4(BARD1):c.1545C>T (p.Ser515=)
|
rs777715537
|
|
|
NM_000465.4(BARD1):c.1551A>G (p.Gly517=)
|
rs2469442511
|
|
|
NM_000465.4(BARD1):c.1554C>G (p.Ala518=)
|
rs139612775
|
|
|
NM_000465.4(BARD1):c.1557C>T (p.Ser519=)
|
rs2106076207
|
|
|
NM_000465.4(BARD1):c.1558A>C (p.Arg520=)
|
rs2106076200
|
|
|
NM_000465.4(BARD1):c.1569-20dup
|
rs1693510645
|
|
|
NM_000465.4(BARD1):c.156T>G (p.Arg52=)
|
rs771809792
|
|
|
NM_000465.4(BARD1):c.158+5A>G
|
rs1057522270
|
|
|
NM_000465.4(BARD1):c.158+6G>T
|
rs1696451585
|
|
|
NM_000465.4(BARD1):c.1582C>T (p.Leu528=)
|
rs1693508020
|
|
|
NM_000465.4(BARD1):c.1587G>A (p.Arg529=)
|
rs532444144
|
|
|
NM_000465.4(BARD1):c.159-1G>A
|
rs879254139
|
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
|
NM_000465.4(BARD1):c.159-2A>C
|
rs1424761304
|
|
|
NM_000465.4(BARD1):c.1593C>G (p.Val531=)
|
rs564894014
|
|
|
NM_000465.4(BARD1):c.1599T>C (p.Tyr533=)
|
rs2106039024
|
|
|
NM_000465.4(BARD1):c.1602A>G (p.Thr534=)
|
rs1553616398
|
|
|
NM_000465.4(BARD1):c.1605T>C (p.Asp535=)
|
rs1172740478
|
|
|
NM_000465.4(BARD1):c.1624C>T (p.Leu542=)
|
rs2106038865
|
|
|
NM_000465.4(BARD1):c.1627T>C (p.Leu543=)
|
rs2469378258
|
|
|
NM_000465.4(BARD1):c.1635A>G (p.Leu545=)
|
rs786203364
|
|
|
NM_000465.4(BARD1):c.1638A>G (p.Pro546=)
|
rs2106038802
|
|
|
NM_000465.4(BARD1):c.1653A>G (p.Ser551=)
|
rs876660383
|
|
|
NM_000465.4(BARD1):c.1659A>G (p.Ser553=)
|
rs1262122385
|
|
|
NM_000465.4(BARD1):c.165C>T (p.Asn55=)
|
rs1553625775
|
|
|
NM_000465.4(BARD1):c.1662_1665del (p.Ser555fs)
|
rs753537518
|
|
|
NM_000465.4(BARD1):c.1668C>T (p.His556=)
|
rs2106038572
|
|
|
NM_000465.4(BARD1):c.1677+5G>A
|
rs587780019
|
|
|
NM_000465.4(BARD1):c.1678-1G>A
|
rs767208318
|
|
|
NM_000465.4(BARD1):c.1678-2A>G
|
rs1693089850
|
|
|
NM_000465.4(BARD1):c.1692G>A (p.Gln564=)
|
rs1168537193
|
|
|
NM_000465.4(BARD1):c.169C>T (p.Leu57=)
|
rs1559441908
|
|
|
NM_000465.4(BARD1):c.1701T>C (p.Asp567=)
|
rs1191401261
|
|
|
NM_000465.4(BARD1):c.1713A>G (p.Val571=)
|
rs1553615162
|
|
|
NM_000465.4(BARD1):c.1716T>C (p.Leu572=)
|
rs1693084402
|
|
|
NM_000465.4(BARD1):c.171G>A (p.Leu57=)
|
rs876659045
|
|
|
NM_000465.4(BARD1):c.1729C>T (p.Leu577=)
|
rs749756887
|
|
|
NM_000465.4(BARD1):c.172A>C (p.Arg58=)
|
|
|
|
NM_000465.4(BARD1):c.1743A>G (p.Gln581=)
|
rs1060504192
|
|
|
NM_000465.4(BARD1):c.1755C>T (p.Leu585=)
|
rs2106020941
|
|
|
NM_000465.4(BARD1):c.1761G>A (p.Glu587=)
|
rs1060501284
|
|
|
NM_000465.4(BARD1):c.1767A>G (p.Ala589=)
|
rs1553615121
|
|
|
NM_000465.4(BARD1):c.1767A>T (p.Ala589=)
|
rs1553615121
|
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
|
NM_000465.4(BARD1):c.1770A>G (p.Val590=)
|
rs946016547
|
|
|
NM_000465.4(BARD1):c.1776T>G (p.Leu592=)
|
|
|
|
NM_000465.4(BARD1):c.177G>A (p.Glu59=)
|
rs1060501307
|
|
|
NM_000465.4(BARD1):c.1788del (p.Lys596fs)
|
rs1574739005
|
|
|
NM_000465.4(BARD1):c.1794T>C (p.Thr598=)
|
rs1553615105
|
|
|
NM_000465.4(BARD1):c.1797G>A (p.Glu599=)
|
rs1317068399
|
|
|
NM_000465.4(BARD1):c.1811-16dup
|
rs760333316
|
|
|
NM_000465.4(BARD1):c.1824T>C (p.Val608=)
|
rs1268678327
|
|
|
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
|
rs2469338229
|
|
|
NM_000465.4(BARD1):c.183G>A (p.Val61=)
|
rs2106145654
|
|
|
NM_000465.4(BARD1):c.1845A>G (p.Gln615=)
|
rs1693040542
|
|
|
NM_000465.4(BARD1):c.1866T>C (p.Leu622=)
|
rs368195514
|
|
|
NM_000465.4(BARD1):c.1869G>A (p.Gly623=)
|
rs759973077
|
|
|
NM_000465.4(BARD1):c.1872del (p.Leu625fs)
|
rs876659572
|
|
|
NM_000465.4(BARD1):c.1875C>A (p.Leu625=)
|
rs1396679779
|
|
|
NM_000465.4(BARD1):c.1875C>T (p.Leu625=)
|
rs1396679779
|
|
|
NM_000465.4(BARD1):c.1878T>C (p.Asn626=)
|
rs1553614944
|
|
|
NM_000465.4(BARD1):c.1881A>G (p.Gly627=)
|
rs968535447
|
|
|
NM_000465.4(BARD1):c.189A>G (p.Leu63=)
|
rs2106145609
|
|
|
NM_000465.4(BARD1):c.1903+1G>A
|
rs876660237
|
|
|
NM_000465.4(BARD1):c.1904-2A>T
|
rs864622239
|
|
|
NM_000465.4(BARD1):c.1914A>C (p.Ala638=)
|
rs876658489
|
|
|
NM_000465.4(BARD1):c.1914A>G (p.Ala638=)
|
rs876658489
|
|
|
NM_000465.4(BARD1):c.1918C>T (p.Leu640=)
|
rs1553612535
|
|
|
NM_000465.4(BARD1):c.1920A>C (p.Leu640=)
|
rs780901872
|
|
|
NM_000465.4(BARD1):c.1923A>G (p.Arg641=)
|
rs2105990818
|
|
|
NM_000465.4(BARD1):c.1924A>C (p.Arg642=)
|
rs765487816
|
|
|
NM_000465.4(BARD1):c.1926A>G (p.Arg642=)
|
rs1553612528
|
|
|
NM_000465.4(BARD1):c.1932A>G (p.Val644=)
|
rs1274554835
|
|
|
NM_000465.4(BARD1):c.1935T>C (p.Cys645=)
|
rs1553612524
|
|
|
NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer)
|
rs587780024
|
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
|
NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter)
|
rs1350570988
|
|
|
NM_000465.4(BARD1):c.1941G>A (p.Gln647=)
|
|
|
|
NM_000465.4(BARD1):c.1947A>G (p.Glu649=)
|
|
|
|
NM_000465.4(BARD1):c.1950G>A (p.Lys650=)
|
rs1692302613
|
|
|
NM_000465.4(BARD1):c.195A>T (p.Gly65=)
|
rs1574847294
|
|
|
NM_000465.4(BARD1):c.1970del (p.Pro657fs)
|
rs786203739
|
|
|
NM_000465.4(BARD1):c.1980C>T (p.Ser660=)
|
rs1574706765
|
|
|
NM_000465.4(BARD1):c.1983G>A (p.Arg661=)
|
rs1553612481
|
|
|
NM_000465.4(BARD1):c.1986C>T (p.Leu662=)
|
rs1553612477
|
|
|
NM_000465.4(BARD1):c.1989C>T (p.Asn663=)
|
rs587782767
|
|
|
NM_000465.4(BARD1):c.1995A>G (p.Glu665=)
|
rs2105990404
|
|
|
NM_000465.4(BARD1):c.2001+3A>G
|
rs1553612461
|
|
|
NM_000465.4(BARD1):c.2002-1G>A
|
rs762601855
|
|
|
NM_000465.4(BARD1):c.2002-2A>C
|
rs876658260
|
|
|
NM_000465.4(BARD1):c.2002-2A>T
|
rs876658260
|
|
|
NM_000465.4(BARD1):c.2013G>C (p.Leu671=)
|
rs759021562
|
|
|
NM_000465.4(BARD1):c.2013G>T (p.Leu671=)
|
rs759021562
|
|
|
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)
|
rs1328046615
|
|
|
NM_000465.4(BARD1):c.2022A>G (p.Gly674=)
|
rs1574703887
|
|
|
NM_000465.4(BARD1):c.2024del (p.Cys675fs)
|
rs2105987971
|
|
|
NM_000465.4(BARD1):c.2034T>C (p.Tyr678=)
|
rs1057523192
|
|
|
NM_000465.4(BARD1):c.2036T>A (p.Leu679Ter)
|
rs1692227690
|
|
|
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs)
|
rs1553612222
|
|
|
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter)
|
rs1559372578
|
|
|
NM_000465.4(BARD1):c.2058_2061del (p.His686fs)
|
rs2105987749
|
|
|
NM_000465.4(BARD1):c.2061A>G (p.Pro687=)
|
rs750597867
|
|
|
NM_000465.4(BARD1):c.2063dup (p.Asp689fs)
|
rs1064796026
|
|
|
NM_000465.4(BARD1):c.2067C>T (p.Asp689=)
|
rs1692224260
|
|
|
NM_000465.4(BARD1):c.2070C>T (p.Asn690=)
|
rs1574703626
|
|
|
NM_000465.4(BARD1):c.2076T>A (p.Ile692=)
|
rs587781316
|
|
|
NM_000465.4(BARD1):c.2085C>T (p.Val695=)
|
rs2105987601
|
|
|
NM_000465.4(BARD1):c.2094T>C (p.Gly698=)
|
rs1057523211
|
|
|
NM_000465.4(BARD1):c.2094T>G (p.Gly698=)
|
rs1057523211
|
|
|
NM_000465.4(BARD1):c.2097G>A (p.Gly699=)
|
rs876659210
|
|
|
NM_000465.4(BARD1):c.2100C>T (p.Gly700=)
|
rs1692220418
|
|
|
NM_000465.4(BARD1):c.2104_2111del (p.Gln701_Ile702insTer)
|
rs2469270376
|
|
|
NM_000465.4(BARD1):c.2109C>T (p.Leu703=)
|
rs2105987417
|
|
|
NM_000465.4(BARD1):c.2127A>G (p.Pro709=)
|
rs1574703232
|
|
|
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs)
|
rs1692216921
|
|
|
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter)
|
rs1553612164
|
|
|
NM_000465.4(BARD1):c.2144dup (p.Thr716fs)
|
rs1574703115
|
|
|
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs)
|
rs786203811
|
|
|
NM_000465.4(BARD1):c.2154T>C (p.Asn718=)
|
rs2469269683
|
|
|
NM_000465.4(BARD1):c.2157A>G (p.Thr719=)
|
rs1574703001
|
|
|
NM_000465.4(BARD1):c.2159_2172del (p.Val720fs)
|
rs1692211675
|
|
|
NM_000465.4(BARD1):c.216-14T>C
|
rs775103922
|
|
|
NM_000465.4(BARD1):c.216-14del
|
rs56130510
|
|
|
NM_000465.4(BARD1):c.216-1G>T
|
rs876658905
|
|
|
NM_000465.4(BARD1):c.2160C>T (p.Val720=)
|
rs137888190
|
|
|
NM_000465.4(BARD1):c.2163A>C (p.Ala721=)
|
rs786202805
|
|
|
NM_000465.4(BARD1):c.2163A>G (p.Ala721=)
|
rs786202805
|
|
|
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
|
rs2105987094
|
|
|
NM_000465.4(BARD1):c.2166C>T (p.Tyr722=)
|
rs2105987094
|
|
|
NM_000465.4(BARD1):c.2169T>C (p.His723=)
|
rs779808630
|
|
|
NM_000465.4(BARD1):c.2172G>A (p.Ala724=)
|
rs143331809
|
|
|
NM_000465.4(BARD1):c.2178C>A (p.Pro726=)
|
rs201873551
|
|
|
NM_000465.4(BARD1):c.2178C>G (p.Pro726=)
|
rs201873551
|
|
|
NM_000465.4(BARD1):c.2184T>C (p.Ser728=)
|
rs1559372027
|
|
|
NM_000465.4(BARD1):c.2184T>G (p.Ser728=)
|
rs1559372027
|
|
|
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)
|
rs76744638
|
|
|
NM_000465.4(BARD1):c.2205G>A (p.Gln735=)
|
rs1574702556
|
|
|
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter)
|
rs2105986813
|
|
|
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
|
rs2469268815
|
|
|
NM_000465.4(BARD1):c.2223T>C (p.Asp741=)
|
rs1692203425
|
|
|
NM_000465.4(BARD1):c.2226G>A (p.Leu742=)
|
rs1064793606
|
|
|
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)
|
rs1259296823
|
|
|
NM_000465.4(BARD1):c.222T>C (p.Cys74=)
|
rs1168791343
|
|
|
NM_000465.4(BARD1):c.2241A>G (p.Pro747=)
|
rs2469268432
|
|
|
NM_000465.4(BARD1):c.2247G>A (p.Arg749=)
|
rs1057520455
|
|
|
NM_000465.4(BARD1):c.2259C>T (p.Gly753=)
|
rs753441393
|
|
|
NM_000465.4(BARD1):c.2262del (p.Val755fs)
|
rs1574702099
|
|
|
NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter)
|
rs786202118
|
|
|
NM_000465.4(BARD1):c.2268del (p.Val755_Trp756insTer)
|
rs1559371635
|
|
|
NM_000465.4(BARD1):c.2277T>C (p.Pro759=)
|
rs766070611
|
|
|
NM_000465.4(BARD1):c.2280G>C (p.Ser760=)
|
rs749959440
|
|
|
NM_000465.4(BARD1):c.2286G>A (p.Trp762Ter)
|
rs1262069856
|
|
|
NM_000465.4(BARD1):c.2295C>T (p.Asp765=)
|
rs1692192527
|
|
|
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)
|
rs750413473
|
|
|
NM_000465.4(BARD1):c.2301G>A (p.Val767=)
|
rs2105986191
|
|
|
NM_000465.4(BARD1):c.2301G>C (p.Val767=)
|
rs2105986191
|
|
|
NM_000465.4(BARD1):c.2307C>T (p.Ser769=)
|
rs1060504197
|
|
|
NM_000465.4(BARD1):c.2322T>C (p.Pro774=)
|
rs2469266845
|
|
|
NM_000465.4(BARD1):c.2331C>T (p.Ser777=)
|
rs1692188549
|
|
|
NM_000465.4(BARD1):c.2333G>A (p.Ter778=)
|
rs776958611
|
|
|
NM_000465.4(BARD1):c.246A>G (p.Gly82=)
|
rs1695565956
|
|
|
NM_000465.4(BARD1):c.249T>C (p.Cys83=)
|
rs1574839902
|
|
|
NM_000465.4(BARD1):c.252A>G (p.Pro84=)
|
rs786202670
|
|
|
NM_000465.4(BARD1):c.255G>A (p.Val85=)
|
rs769046326
|
|
|
NM_000465.4(BARD1):c.264C>T (p.Thr88=)
|
rs1695564144
|
|
|
NM_000465.4(BARD1):c.26_40del (p.4_8NRQPR[1])
|
rs587781979
|
|
|
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)
|
rs1559437094
|
|
|
NM_000465.4(BARD1):c.288G>A (p.Lys96=)
|
rs1553624778
|
|
|
NM_000465.4(BARD1):c.297A>G (p.Arg99=)
|
rs878854010
|
|
|
NM_000465.4(BARD1):c.315T>A (p.Ile105=)
|
rs1695557391
|
|
|
NM_000465.4(BARD1):c.318A>G (p.Gln106=)
|
rs1178885131
|
|
|
NM_000465.4(BARD1):c.336A>C (p.Arg112=)
|
rs776586419
|
|
|
NM_000465.4(BARD1):c.345A>G (p.Leu115=)
|
rs771012953
|
|
|
NM_000465.4(BARD1):c.357G>A (p.Glu119=)
|
rs1553624706
|
|
|
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
|
rs2469560081
|
|
|
NM_000465.4(BARD1):c.365-14_365-13dup
|
rs776103948
|
|
|
NM_000465.4(BARD1):c.365-14dup
|
rs776103948
|
|
|
NM_000465.4(BARD1):c.365-16del
|
rs2469515156
|
|
|
NM_000465.4(BARD1):c.365-8del
|
rs776103948
|
|
|
NM_000465.4(BARD1):c.369G>A (p.Leu123=)
|
rs1060504195
|
|
|
NM_000465.4(BARD1):c.372A>G (p.Lys124=)
|
rs1553622726
|
|
|
NM_000465.4(BARD1):c.378T>C (p.Asp126=)
|
rs1435093585
|
|
|
NM_000465.4(BARD1):c.384T>C (p.Pro128=)
|
rs2106112667
|
|
|
NM_000465.4(BARD1):c.396G>A (p.Leu132=)
|
rs1553622703
|
|
|
NM_000465.4(BARD1):c.39G>A (p.Arg13=)
|
rs770217979
|
|
|
NM_000465.4(BARD1):c.408A>G (p.Ala136=)
|
rs878854012
|
|
|
NM_000465.4(BARD1):c.420G>A (p.Lys140=)
|
rs758749603
|
|
|
NM_000465.4(BARD1):c.423T>C (p.Asn141=)
|
rs2106112492
|
|
|
NM_000465.4(BARD1):c.429T>A (p.Ile143=)
|
rs1695029571
|
|
|
NM_000465.4(BARD1):c.42C>T (p.Ile14=)
|
rs746266678
|
|
|
NM_000465.4(BARD1):c.450A>C (p.Arg150=)
|
rs2106112364
|
|
|
NM_000465.4(BARD1):c.450A>G (p.Arg150=)
|
|
|
|
NM_000465.4(BARD1):c.456G>A (p.Lys152=)
|
rs2106112336
|
|
|
NM_000465.4(BARD1):c.459A>G (p.Lys153=)
|
rs2106112328
|
|
|
NM_000465.4(BARD1):c.45C>A (p.Arg15=)
|
rs786201402
|
|
|
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs)
|
rs1553628445
|
|
|
NM_000465.4(BARD1):c.474G>A (p.Val158=)
|
rs1553622657
|
|
|
NM_000465.4(BARD1):c.486A>G (p.Ser162=)
|
rs1574821298
|
|
|
NM_000465.4(BARD1):c.48C>G (p.Ser16=)
|
rs770753803
|
|
|
NM_000465.4(BARD1):c.490C>T (p.Gln164Ter)
|
rs750350372
|
|
|
NM_000465.4(BARD1):c.492A>G (p.Gln164=)
|
rs1241515847
|
|
|
NM_000465.4(BARD1):c.495C>G (p.Thr165=)
|
rs1574821249
|
|
|
NM_000465.4(BARD1):c.495C>T (p.Thr165=)
|
rs1574821249
|
|
|
NM_000465.4(BARD1):c.498G>A (p.Gln166=)
|
rs1574821230
|
|
|
NM_000465.4(BARD1):c.501T>A (p.Pro167=)
|
rs1574821214
|
|
|
NM_000465.4(BARD1):c.504A>G (p.Ala168=)
|
rs1695023375
|
|
|
NM_000465.4(BARD1):c.507A>T (p.Ile169=)
|
rs2106112077
|
|
|
NM_000465.4(BARD1):c.513A>G (p.Lys171=)
|
|
|
|
NM_000465.4(BARD1):c.513dup (p.Asp172fs)
|
rs746325928
|
|
|
NM_000465.4(BARD1):c.51G>C (p.Gly17=)
|
rs864622419
|
|
|
NM_000465.4(BARD1):c.51G>T (p.Gly17=)
|
rs864622419
|
|
|
NM_000465.4(BARD1):c.522T>C (p.Ser174=)
|
rs1060504190
|
|
|
NM_000465.4(BARD1):c.537A>C (p.Ser179=)
|
rs786202959
|
|
|
NM_000465.4(BARD1):c.537A>G (p.Ser179=)
|
rs786202959
|
|
|
NM_000465.4(BARD1):c.537A>T (p.Ser179=)
|
rs786202959
|
|
|
NM_000465.4(BARD1):c.543A>G (p.Glu181=)
|
rs1574820966
|
|
|
NM_000465.4(BARD1):c.54C>A (p.Asn18Lys)
|
rs587780032
|
|
|
NM_000465.4(BARD1):c.54C>T (p.Asn18=)
|
rs587780032
|
|
|
NM_000465.4(BARD1):c.552C>T (p.Ser184=)
|
rs1060504193
|
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
|
NM_000465.4(BARD1):c.564T>C (p.Pro188=)
|
rs748511245
|
|
|
NM_000465.4(BARD1):c.567A>G (p.Ala189=)
|
rs878854015
|
|
|
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)
|
rs2469511702
|
|
|
NM_000465.4(BARD1):c.591G>A (p.Lys197=)
|
rs1695014095
|
|
|
NM_000465.4(BARD1):c.606T>C (p.Ser202=)
|
rs762810549
|
|
|
NM_000465.4(BARD1):c.609A>G (p.Gly203=)
|
rs28997574
|
|
|
NM_000465.4(BARD1):c.618A>G (p.Gln206=)
|
rs1559425566
|
|
|
NM_000465.4(BARD1):c.630T>A (p.Thr210=)
|
rs1574820293
|
|
|
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter)
|
rs762171436
|
|
|
NM_000465.4(BARD1):c.636T>C (p.Ala212=)
|
rs2106111263
|
|
|
NM_000465.4(BARD1):c.648A>G (p.Gln216=)
|
rs954825746
|
|
|
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter)
|
rs1553622534
|
|
|
NM_000465.4(BARD1):c.672A>G (p.Lys224=)
|
rs1574820067
|
|
|
NM_000465.4(BARD1):c.676G>C (p.Asp226His)
|
rs876659965
|
|
|
NM_000465.4(BARD1):c.678T>C (p.Asp226=)
|
rs1574820006
|
|
|
NM_000465.4(BARD1):c.690C>T (p.Asp230=)
|
rs587780034
|
|
|
NM_000465.4(BARD1):c.693C>T (p.Ser231=)
|
rs2106110948
|
|
|
NM_000465.4(BARD1):c.696A>G (p.Lys232=)
|
|
|
|
NM_000465.4(BARD1):c.699G>A (p.Glu233=)
|
rs1002531703
|
|
|
NM_000465.4(BARD1):c.6G>A (p.Pro2=)
|
rs876660278
|
|
|
NM_000465.4(BARD1):c.702A>G (p.Glu234=)
|
rs786202878
|
|
|
NM_000465.4(BARD1):c.716del (p.Leu239fs)
|
rs2106110871
|
|
|
NM_000465.4(BARD1):c.71C>G (p.Pro24Arg)
|
rs863224674
|
|
|
NM_000465.4(BARD1):c.72C>A (p.Pro24=)
|
rs2106171466
|
|
|
NM_000465.4(BARD1):c.732C>T (p.Ser244=)
|
rs774675180
|
|
|
NM_000465.4(BARD1):c.747C>T (p.Ile249=)
|
rs746551077
|
|
|
NM_000465.4(BARD1):c.789T>C (p.Ser263=)
|
rs1345594874
|
|
|
NM_000465.4(BARD1):c.792C>T (p.Gly264=)
|
rs1276619198
|
|
|
NM_000465.4(BARD1):c.807T>A (p.Ser269=)
|
rs1420328641
|
|
|
NM_000465.4(BARD1):c.828T>C (p.Thr276=)
|
rs1574819148
|
|
|
NM_000465.4(BARD1):c.838_839del (p.Leu280fs)
|
rs876659752
|
|
|
NM_000465.4(BARD1):c.840A>G (p.Leu280=)
|
rs2106110219
|
|
|
NM_000465.4(BARD1):c.844T>C (p.Leu282=)
|
rs1574819001
|
|
|
NM_000465.4(BARD1):c.84G>A (p.Pro28=)
|
rs746695035
|
|
|
NM_000465.4(BARD1):c.84G>T (p.Pro28=)
|
rs746695035
|
|
|
NM_000465.4(BARD1):c.852G>A (p.Glu284=)
|
rs2106110152
|
|
|
NM_000465.4(BARD1):c.860_861del (p.Glu287fs)
|
rs786201868
|
|
|
NM_000465.4(BARD1):c.862_863insGG (p.Ser288fs)
|
rs1478133549
|
|
|
NM_000465.4(BARD1):c.870C>T (p.Asp290=)
|
rs1694985290
|
|
|
NM_000465.4(BARD1):c.873T>G (p.Thr291=)
|
rs1574818810
|
|
|
NM_000465.4(BARD1):c.873dup (p.Lys292Ter)
|
rs1553622378
|
|
|
NM_000465.4(BARD1):c.876G>A (p.Lys292=)
|
rs1449269582
|
|
|
NM_000465.4(BARD1):c.885T>C (p.Asn295=)
|
rs1433418104
|
|
|
NM_000465.4(BARD1):c.906G>A (p.Lys302=)
|
rs1412871752
|
|
|
NM_000465.4(BARD1):c.909C>T (p.Val303=)
|
rs751581520
|
|
|
NM_000465.4(BARD1):c.912C>T (p.Cys304=)
|
rs1694981725
|
|
|
NM_000465.4(BARD1):c.924T>G (p.Leu308=)
|
rs758559877
|
|
|
NM_000465.4(BARD1):c.927A>G (p.Thr309=)
|
rs863224365
|
|
|
NM_000465.4(BARD1):c.939T>C (p.Ser313=)
|
rs765858289
|
|
|
NM_000465.4(BARD1):c.939T>G (p.Ser313=)
|
|
|
|
NM_000465.4(BARD1):c.93C>A (p.Arg31=)
|
rs778803692
|
|
|
NM_000465.4(BARD1):c.93C>G (p.Arg31=)
|
rs778803692
|
|
|
NM_000465.4(BARD1):c.945A>G (p.Pro315=)
|
rs876660284
|
|
|
NM_000465.4(BARD1):c.948A>G (p.Leu316=)
|
rs1553622329
|
|
|
NM_000465.4(BARD1):c.969C>G (p.Gly323=)
|
rs1553622322
|
|
|
NM_000465.4(BARD1):c.969C>T (p.Gly323=)
|
rs1553622322
|
|
|
NM_000465.4(BARD1):c.972T>C (p.His324=)
|
rs2469505934
|
|
|
NM_000465.4(BARD1):c.978T>C (p.Asn326=)
|
|
|
|
NM_000465.4(BARD1):c.987C>T (p.Ser329=)
|
rs747190023
|
|
|
NM_000478.6(ALPL):c.1171del (p.Arg391fs)
|
rs751404811
|
|
|
NM_000478.6(ALPL):c.508A>G (p.Asn170Asp)
|
rs2148161378
|
|
|
NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs)
|
rs774153480
|
|
|
NM_000487.6(ARSA):c.418del (p.His140fs)
|
rs745884435
|
|
|
NM_000487.6(ARSA):c.581C>G (p.Pro194Arg)
|
rs769492279
|
|
|
NM_000487.6(ARSA):c.607T>C (p.Tyr203His)
|
rs2082680103
|
|
|
NM_000487.6(ARSA):c.724G>T (p.Glu242Ter)
|
rs757891932
|
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
|
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
|
rs397508215
|
|
|
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter)
|
rs1799425190
|
|
|
NM_000492.4(CFTR):c.1731C>A (p.Tyr577Ter)
|
rs55928397
|
|
|
NM_000492.4(CFTR):c.1766+1G>T
|
rs121908748
|
|
|
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del)
|
rs121908777
|
|
|
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter)
|
rs1792036190
|
|
|
NM_000492.4(CFTR):c.273+3A>C
|
rs74467662
|
|
|
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter)
|
rs1408746819
|
|
|
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
|
rs2485125382
|
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
|
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter)
|
rs150020260
|
|
|
NM_000492.4(CFTR):c.332del (p.Pro111fs)
|
rs2116670123
|
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
|
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs)
|
rs1562919371
|
|
|
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter)
|
rs121908766
|
|
|
NM_000492.4(CFTR):c.3717+4A>G
|
rs387906362
|
|
|
NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter)
|
rs751098333
|
|
|
NM_000492.4(CFTR):c.772del (p.Arg258fs)
|
rs2485020207
|
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
|
NM_000518.5(HBB):c.-137C>G
|
rs33941377
|
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
|
NM_000518.5(HBB):c.217dup (p.Ser73fs)
|
rs33969853
|
|
|
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter)
|
rs979690054
|
|
|
NM_000520.6(HEXA):c.1114del (p.Val372fs)
|
rs2140321846
|
|
|
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu)
|
rs121907955
|
|
|
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter)
|
rs1361998528
|
|
|
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
|
rs2478771891
|
|
|
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter)
|
rs1748943719
|
|
|
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
|
rs2478695232
|
|
|
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter)
|
rs2112135868
|
|
|
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
|
rs777853621
|
|
|
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs)
|
rs2145290975
|
|
|
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
|
rs756680048
|
|
|
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter)
|
rs2023804275
|
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
|
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter)
|
rs2024210372
|
|
|
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter)
|
rs771479314
|
|
|
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)
|
rs72558452
|
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
|
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)
|
rs1583334346
|
|
|
NM_000535.7(PMS2):c.1144+2T>A
|
rs267608158
|
|
|
NM_000535.7(PMS2):c.1245G>A (p.Val415=)
|
rs370701800
|
|
|
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
|
rs2535825476
|
|
|
NM_000535.7(PMS2):c.1281del (p.His428fs)
|
rs1783147885
|
|
|
NM_000535.7(PMS2):c.1344A>G (p.Gly448=)
|
rs759192470
|
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
|
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)
|
rs376142390
|
|
|
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs)
|
rs1064793234
|
|
|
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
|
rs751261543
|
|
|
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer)
|
rs1554306288
|
|
|
NM_000535.7(PMS2):c.163+1G>T
|
rs1064795705
|
|
|
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)
|
rs863224498
|
|
|
NM_000535.7(PMS2):c.164-1G>C
|
rs763308607
|
|
|
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
|
rs751153838
|
|
|
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)
|
rs63750668
|
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
|
NM_000535.7(PMS2):c.1721del (p.Pro574fs)
|
rs1583316404
|
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
|
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)
|
rs63750456
|
|
|
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)
|
rs1064793426
|
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
|
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)
|
rs756358866
|
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
|
NM_000535.7(PMS2):c.1938del (p.Lys647fs)
|
rs2128720948
|
|
|
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)
|
rs587779333
|
|
|
NM_000535.7(PMS2):c.2007-2A>G
|
rs587782336
|
|
|
NM_000535.7(PMS2):c.2007-6C>G
|
rs376018314
|
|
|
NM_000535.7(PMS2):c.2040T>G (p.Gly680=)
|
|
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
|
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
|
rs1562695294
|
|
|
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)
|
rs876659900
|
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
|
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)
|
rs876661272
|
|
|
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)
|
rs200824831
|
|
|
NM_000535.7(PMS2):c.2275+1G>C
|
rs1554294393
|
|
|
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)
|
rs2128672594
|
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
|
|
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
|
rs730881919
|
|
|
NM_000535.7(PMS2):c.2506del (p.Glu836fs)
|
rs2128658092
|
|
|
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)
|
rs587782787
|
|
|
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)
|
rs1554304745
|
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
|
NM_000535.7(PMS2):c.353+1G>A
|
rs113517055
|
|
|
NM_000535.7(PMS2):c.354-1G>A
|
rs786203954
|
|
|
NM_000535.7(PMS2):c.354-2A>G
|
rs786202098
|
|
|
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)
|
rs1785199575
|
|
|
NM_000535.7(PMS2):c.503dup (p.Arg169fs)
|
rs2536435681
|
|
|
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)
|
rs1221485925
|
|
|
NM_000535.7(PMS2):c.538-8T>C
|
rs922948916
|
|
|
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
|
rs761134229
|
|
|
NM_000535.7(PMS2):c.636G>A (p.Gln212=)
|
rs1784804225
|
|
|
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)
|
rs1784802468
|
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
|
NM_000535.7(PMS2):c.741del (p.Ser248fs)
|
rs1583374709
|
|
|
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)
|
rs587782710
|
|
|
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs1064794905
|
|
|
NM_000535.7(PMS2):c.79del (p.Cys27fs)
|
rs2536588880
|
|
|
NM_000535.7(PMS2):c.803+1G>A
|
rs1562669585
|
|
|
NM_000535.7(PMS2):c.804-2A>G
|
rs1307026290
|
|
|
NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)
|
rs1784309424
|
|
|
NM_000535.7(PMS2):c.873del (p.Phe291fs)
|
rs1261282733
|
|
|
NM_000535.7(PMS2):c.903+1G>C
|
rs1554300689
|
|
|
NM_000535.7(PMS2):c.903G>A (p.Lys301=)
|
rs267608153
|
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
|
NM_000535.7(PMS2):c.904-2A>G
|
rs587781339
|
|
|
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter)
|
rs1562651617
|
|
|
NM_000546.6(TP53):c.1002G>A (p.Gly334=)
|
rs786203531
|
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
|
NM_000546.6(TP53):c.1024del (p.Arg342fs)
|
rs1131691022
|
|
|
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)
|
rs375338359
|
|
|
NM_000546.6(TP53):c.1026A>G (p.Arg342=)
|
rs2150994938
|
|
|
NM_000546.6(TP53):c.102C>T (p.Pro34=)
|
rs11575998
|
|
|
NM_000546.6(TP53):c.1030C>T (p.Leu344=)
|
rs1597349242
|
|
|
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)
|
rs121912662
|
|
|
NM_000546.6(TP53):c.1032G>A (p.Leu344=)
|
rs752189180
|
|
|
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)
|
rs397516434
|
|
|
NM_000546.6(TP53):c.1041C>G (p.Ala347=)
|
rs1450229137
|
|
|
NM_000546.6(TP53):c.1054_1055del (p.Asp352fs)
|
|
|
|
NM_000546.6(TP53):c.1060C>T (p.Gln354Ter)
|
rs755394212
|
|
|
NM_000546.6(TP53):c.1062G>A (p.Gln354=)
|
rs1382535379
|
|
|
NM_000546.6(TP53):c.107C>A (p.Pro36Gln)
|
rs587781866
|
|
|
NM_000546.6(TP53):c.1080G>A (p.Gly360=)
|
rs2150994011
|
|
|
NM_000546.6(TP53):c.1080G>C (p.Gly360=)
|
rs2150994011
|
|
|
NM_000546.6(TP53):c.1083G>A (p.Gly361=)
|
rs886038349
|
|
|
NM_000546.6(TP53):c.1083G>T (p.Gly361=)
|
rs886038349
|
|
|
NM_000546.6(TP53):c.1089G>A (p.Arg363=)
|
rs1597348743
|
|
|
NM_000546.6(TP53):c.1095C>T (p.His365=)
|
rs2150993756
|
|
|
NM_000546.6(TP53):c.1101-1G>A
|
rs876658982
|
|
|
NM_000546.6(TP53):c.1101-2A>G
|
rs587781664
|
|
|
NM_000546.6(TP53):c.1104C>T (p.His368=)
|
rs1289241865
|
|
|
NM_000546.6(TP53):c.1107G>A (p.Leu369=)
|
rs2150988882
|
|
|
NM_000546.6(TP53):c.111C>G (p.Ser37=)
|
rs1555526798
|
|
|
NM_000546.6(TP53):c.1125G>A (p.Gln375=)
|
rs764011631
|
|
|
NM_000546.6(TP53):c.1131C>A (p.Thr377=)
|
rs1456836660
|
|
|
NM_000546.6(TP53):c.1135C>A (p.Arg379Ser)
|
rs749061599
|
|
|
NM_000546.6(TP53):c.1137C>T (p.Arg379=)
|
rs786202368
|
|
|
NM_000546.6(TP53):c.1146A>G (p.Lys382=)
|
rs1567540280
|
|
|
NM_000546.6(TP53):c.1158G>A (p.Lys386=)
|
rs2150988281
|
|
|
NM_000546.6(TP53):c.1161A>G (p.Thr387=)
|
rs1131691017
|
|
|
NM_000546.6(TP53):c.1170T>G (p.Pro390=)
|
rs2150988094
|
|
|
NM_000546.6(TP53):c.1179C>T (p.Asp393=)
|
rs2072829931
|
|
|
NM_000546.6(TP53):c.11C>T (p.Pro4Leu)
|
rs878854064
|
|
|
NM_000546.6(TP53):c.12G>T (p.Pro4=)
|
rs876658274
|
|
|
NM_000546.6(TP53):c.138C>T (p.Ser46=)
|
rs2151043092
|
|
|
NM_000546.6(TP53):c.145G>C (p.Asp49His)
|
rs587780728
|
|
|
NM_000546.6(TP53):c.147T>C (p.Asp49=)
|
rs786201148
|
|
|
NM_000546.6(TP53):c.171C>T (p.Asp57=)
|
rs587782776
|
|
|
NM_000546.6(TP53):c.174A>G (p.Pro58=)
|
rs1060504166
|
|
|
NM_000546.6(TP53):c.18A>G (p.Ser6=)
|
rs573130482
|
|
|
NM_000546.6(TP53):c.192C>G (p.Pro64=)
|
rs1555526723
|
|
|
NM_000546.6(TP53):c.201A>G (p.Pro67=)
|
rs786203912
|
|
|
NM_000546.6(TP53):c.204G>A (p.Glu68=)
|
rs746814615
|
|
|
NM_000546.6(TP53):c.207T>C (p.Ala69=)
|
rs775185978
|
|
|
NM_000546.6(TP53):c.210T>A (p.Ala70=)
|
rs786203513
|
|
|
NM_000546.6(TP53):c.210T>C (p.Ala70=)
|
rs786203513
|
|
|
NM_000546.6(TP53):c.215_216delinsGT (p.Pro72Arg)
|
rs878854066
|
|
|
NM_000546.6(TP53):c.216C>G (p.Pro72=)
|
rs56275308
|
|
|
NM_000546.6(TP53):c.21T>C (p.Asp7=)
|
|
|
|
NM_000546.6(TP53):c.222C>G (p.Ala74=)
|
|
|
|
NM_000546.6(TP53):c.228A>G (p.Ala76=)
|
rs2151041380
|
|
|
NM_000546.6(TP53):c.246G>T (p.Pro82=)
|
rs372397095
|
|
|
NM_000546.6(TP53):c.252C>A (p.Ala84=)
|
rs549892645
|
|
|
NM_000546.6(TP53):c.261A>T (p.Pro87=)
|
rs2151040698
|
|
|
NM_000546.6(TP53):c.264C>T (p.Ala88=)
|
rs876660951
|
|
|
NM_000546.6(TP53):c.267C>A (p.Pro89=)
|
rs786201443
|
|
|
NM_000546.6(TP53):c.267del (p.Ser90fs)
|
rs587783062
|
|
|
NM_000546.6(TP53):c.279G>T (p.Leu93=)
|
rs878854067
|
|
|
NM_000546.6(TP53):c.285T>G (p.Ser95=)
|
rs876658696
|
|
|
NM_000546.6(TP53):c.298C>T (p.Gln100Ter)
|
rs1567555994
|
|
|
NM_000546.6(TP53):c.300G>A (p.Gln100=)
|
rs1597373952
|
|
|
NM_000546.6(TP53):c.303A>G (p.Lys101=)
|
rs878854069
|
|
|
NM_000546.6(TP53):c.306C>G (p.Thr102=)
|
rs2151039835
|
|
|
NM_000546.6(TP53):c.309C>T (p.Tyr103=)
|
|
|
|
NM_000546.6(TP53):c.30C>G (p.Val10=)
|
rs568171603
|
|
|
NM_000546.6(TP53):c.319T>G (p.Tyr107Asp)
|
rs368771578
|
|
|
NM_000546.6(TP53):c.31G>A (p.Glu11Lys)
|
rs201382018
|
|
|
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)
|
rs11540654
|
|
|
NM_000546.6(TP53):c.329G>T (p.Arg110Leu)
|
rs11540654
|
|
|
NM_000546.6(TP53):c.330T>C (p.Arg110=)
|
rs1060504167
|
|
|
NM_000546.6(TP53):c.332T>A (p.Leu111Gln)
|
rs1057519997
|
|
|
NM_000546.6(TP53):c.332T>C (p.Leu111Pro)
|
rs1057519997
|
|
|
NM_000546.6(TP53):c.336C>A (p.Gly112=)
|
rs876659177
|
|
|
NM_000546.6(TP53):c.336C>G (p.Gly112=)
|
rs876659177
|
|
|
NM_000546.6(TP53):c.337T>G (p.Phe113Val)
|
rs587781642
|
|
|
NM_000546.6(TP53):c.345T>C (p.His115=)
|
rs1555526530
|
|
|
NM_000546.6(TP53):c.351G>A (p.Gly117=)
|
rs876658998
|
|
|
NM_000546.6(TP53):c.354A>G (p.Thr118=)
|
rs751978853
|
|
|
NM_000546.6(TP53):c.358A>G (p.Lys120Glu)
|
rs121912658
|
|
|
NM_000546.6(TP53):c.366G>T (p.Val122=)
|
rs1374112390
|
|
|
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)
|
rs1057520003
|
|
|
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)
|
rs786201057
|
|
|
NM_000546.6(TP53):c.375+1G>A
|
rs1567555445
|
|
|
NM_000546.6(TP53):c.375+1dup
|
rs1555526470
|
|
|
NM_000546.6(TP53):c.375+5G>A
|
rs1555526466
|
|
|
NM_000546.6(TP53):c.375G>T (p.Thr125=)
|
rs55863639
|
|
|
NM_000546.6(TP53):c.376-21_376-20dup
|
rs2151034434
|
|
|
NM_000546.6(TP53):c.376-2A>G
|
rs786202799
|
|
|
NM_000546.6(TP53):c.376T>G (p.Tyr126Asp)
|
rs886039483
|
|
|
NM_000546.6(TP53):c.377A>G (p.Tyr126Cys)
|
rs1555526335
|
|
|
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)
|
rs1567554500
|
|
|
NM_000546.6(TP53):c.379T>A (p.Ser127Thr)
|
rs1597371694
|
|
|
NM_000546.6(TP53):c.379T>C (p.Ser127Pro)
|
rs1597371694
|
|
|
NM_000546.6(TP53):c.380C>A (p.Ser127Tyr)
|
rs730881999
|
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
|
NM_000546.6(TP53):c.381C>T (p.Ser127=)
|
rs2151034072
|
|
|
NM_000546.6(TP53):c.384T>G (p.Pro128=)
|
|
|
|
NM_000546.6(TP53):c.387C>T (p.Ala129=)
|
rs2543607814
|
|
|
NM_000546.6(TP53):c.388C>T (p.Leu130Phe)
|
rs863224683
|
|
|
NM_000546.6(TP53):c.38dup (p.Leu14fs)
|
rs1555527002
|
|
|
NM_000546.6(TP53):c.390CAA[1] (p.Asn131del)
|
rs879254214
|
|
|
NM_000546.6(TP53):c.392A>T (p.Asn131Ile)
|
rs1131691037
|
|
|
NM_000546.6(TP53):c.393C>T (p.Asn131=)
|
rs769270327
|
|
|
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)
|
rs747342068
|
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
|
NM_000546.6(TP53):c.400T>A (p.Phe134Ile)
|
rs267605077
|
|
|
NM_000546.6(TP53):c.400T>G (p.Phe134Val)
|
rs267605077
|
|
|
NM_000546.6(TP53):c.402T>A (p.Phe134Leu)
|
rs1555526278
|
|
|
NM_000546.6(TP53):c.402T>C (p.Phe134=)
|
rs1555526278
|
|
|
NM_000546.6(TP53):c.403T>C (p.Cys135Arg)
|
rs1057519975
|
|
|
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)
|
rs1057519975
|
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
|
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)
|
rs587781991
|
|
|
NM_000546.6(TP53):c.409_417del (p.Leu137_Lys139del)
|
rs2073395622
|
|
|
NM_000546.6(TP53):c.40C>T (p.Leu14=)
|
rs1567558112
|
|
|
NM_000546.6(TP53):c.411G>C (p.Leu137=)
|
rs876660731
|
|
|
NM_000546.6(TP53):c.413C>T (p.Ala138Val)
|
rs750600586
|
|
|
NM_000546.6(TP53):c.414C>T (p.Ala138=)
|
rs1555526254
|
|
|
NM_000546.6(TP53):c.417G>A (p.Lys139=)
|
|
|
|
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)
|
rs587781288
|
|
|
NM_000546.6(TP53):c.423C>T (p.Cys141=)
|
rs1057519977
|
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
|
NM_000546.6(TP53):c.428T>C (p.Val143Ala)
|
rs1555526241
|
|
|
NM_000546.6(TP53):c.42G>A (p.Leu14=)
|
rs773918872
|
|
|
NM_000546.6(TP53):c.42G>C (p.Leu14=)
|
rs773918872
|
|
|
NM_000546.6(TP53):c.432G>A (p.Gln144=)
|
rs786201419
|
|
|
NM_000546.6(TP53):c.434T>A (p.Leu145Gln)
|
rs587782197
|
|
|
NM_000546.6(TP53):c.434T>C (p.Leu145Pro)
|
rs587782197
|
|
|
NM_000546.6(TP53):c.435G>T (p.Leu145=)
|
|
|
|
NM_000546.6(TP53):c.437G>A (p.Trp146Ter)
|
rs1206165503
|
|
|
NM_000546.6(TP53):c.440T>A (p.Val147Asp)
|
rs1453167097
|
|
|
NM_000546.6(TP53):c.447C>T (p.Ser149=)
|
rs2151032725
|
|
|
NM_000546.6(TP53):c.448_459del (p.Thr150_Pro153del)
|
rs137852790
|
|
|
NM_000546.6(TP53):c.450A>C (p.Thr150=)
|
rs754020850
|
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
|
NM_000546.6(TP53):c.453C>G (p.Pro151=)
|
rs2151032585
|
|
|
NM_000546.6(TP53):c.456G>A (p.Pro152=)
|
rs876659481
|
|
|
NM_000546.6(TP53):c.456G>T (p.Pro152=)
|
rs876659481
|
|
|
NM_000546.6(TP53):c.464C>A (p.Thr155Asn)
|
rs786202752
|
|
|
NM_000546.6(TP53):c.465C>A (p.Thr155=)
|
rs786202992
|
|
|
NM_000546.6(TP53):c.465C>T (p.Thr155=)
|
rs786202992
|
|
|
NM_000546.6(TP53):c.469G>T (p.Val157Phe)
|
rs121912654
|
|
|
NM_000546.6(TP53):c.470T>A (p.Val157Asp)
|
rs1131691023
|
|
|
NM_000546.6(TP53):c.471C>A (p.Val157=)
|
rs1057522496
|
|
|
NM_000546.6(TP53):c.473G>C (p.Arg158Pro)
|
rs587782144
|
|
|
NM_000546.6(TP53):c.473G>T (p.Arg158Leu)
|
rs587782144
|
|
|
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu)
|
rs1567553501
|
|
|
NM_000546.6(TP53):c.474C>A (p.Arg158=)
|
rs139200646
|
|
|
NM_000546.6(TP53):c.476C>A (p.Ala159Asp)
|
rs1555526131
|
|
|
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
|
rs1555526131
|
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
|
NM_000546.6(TP53):c.482C>A (p.Ala161Asp)
|
rs1064795691
|
|
|
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp)
|
rs2073376974
|
|
|
NM_000546.6(TP53):c.483C>A (p.Ala161=)
|
rs1057523101
|
|
|
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn)
|
rs786203436
|
|
|
NM_000546.6(TP53):c.490A>G (p.Lys164Glu)
|
rs879254249
|
|
|
NM_000546.6(TP53):c.492G>A (p.Lys164=)
|
rs1131691034
|
|
|
NM_000546.6(TP53):c.498A>G (p.Ser166=)
|
rs1555526098
|
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
|
NM_000546.6(TP53):c.503A>G (p.His168Arg)
|
rs867114783
|
|
|
NM_000546.6(TP53):c.514G>T (p.Val172Phe)
|
rs1131691043
|
|
|
NM_000546.6(TP53):c.515T>A (p.Val172Asp)
|
rs1131691021
|
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
|
NM_000546.6(TP53):c.518T>A (p.Val173Glu)
|
rs1057519747
|
|
|
NM_000546.6(TP53):c.519G>A (p.Val173=)
|
rs1292303980
|
|
|
NM_000546.6(TP53):c.519G>C (p.Val173=)
|
rs1292303980
|
|
|
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)
|
rs138729528
|
|
|
NM_000546.6(TP53):c.525C>T (p.Arg175=)
|
rs976002907
|
|
|
NM_000546.6(TP53):c.526T>A (p.Cys176Ser)
|
rs967461896
|
|
|
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)
|
rs967461896
|
|
|
NM_000546.6(TP53):c.526T>G (p.Cys176Gly)
|
rs967461896
|
|
|
NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del)
|
rs2073361326
|
|
|
NM_000546.6(TP53):c.530C>G (p.Pro177Arg)
|
rs751477326
|
|
|
NM_000546.6(TP53):c.531C>G (p.Pro177=)
|
rs1597369785
|
|
|
NM_000546.6(TP53):c.535C>A (p.His179Asn)
|
rs587780070
|
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
|
NM_000546.6(TP53):c.537T>C (p.His179=)
|
rs876660821
|
|
|
NM_000546.6(TP53):c.537T>G (p.His179Gln)
|
rs876660821
|
|
|
NM_000546.6(TP53):c.538G>A (p.Glu180Lys)
|
rs879253911
|
|
|
NM_000546.6(TP53):c.540G>A (p.Glu180=)
|
rs2073362479
|
|
|
NM_000546.6(TP53):c.542G>C (p.Arg181Pro)
|
rs397514495
|
|
|
NM_000546.6(TP53):c.543C>T (p.Arg181=)
|
rs876659582
|
|
|
NM_000546.6(TP53):c.549A>G (p.Ser183=)
|
rs1597369559
|
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
|
NM_000546.6(TP53):c.559+1G>T
|
rs1131691042
|
|
|
NM_000546.6(TP53):c.560-19_560-9del
|
rs2073351094
|
|
|
NM_000546.6(TP53):c.560-3T>C
|
rs763746485
|
|
|
NM_000546.6(TP53):c.567C>G (p.Ala189=)
|
rs55764374
|
|
|
NM_000546.6(TP53):c.567C>T (p.Ala189=)
|
rs55764374
|
|
|
NM_000546.6(TP53):c.569C>T (p.Pro190Leu)
|
rs876660825
|
|
|
NM_000546.6(TP53):c.576G>A (p.Gln192=)
|
rs2073344721
|
|
|
NM_000546.6(TP53):c.577C>G (p.His193Asp)
|
rs876658468
|
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
|
NM_000546.6(TP53):c.578A>T (p.His193Leu)
|
rs786201838
|
|
|
NM_000546.6(TP53):c.57T>C (p.Phe19=)
|
rs763565673
|
|
|
NM_000546.6(TP53):c.581T>A (p.Leu194His)
|
rs1057519998
|
|
|
NM_000546.6(TP53):c.581T>G (p.Leu194Arg)
|
rs1057519998
|
|
|
NM_000546.6(TP53):c.584T>G (p.Ile195Ser)
|
rs760043106
|
|
|
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)
|
rs483352697
|
|
|
NM_000546.6(TP53):c.589G>A (p.Val197Met)
|
rs786204041
|
|
|
NM_000546.6(TP53):c.60A>T (p.Ser20=)
|
rs786201754
|
|
|
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)
|
rs1057520008
|
|
|
NM_000546.6(TP53):c.613T>C (p.Tyr205His)
|
rs1057520008
|
|
|
NM_000546.6(TP53):c.615T>C (p.Tyr205=)
|
rs786202222
|
|
|
NM_000546.6(TP53):c.630C>T (p.Asn210=)
|
rs1555525791
|
|
|
NM_000546.6(TP53):c.632C>T (p.Thr211Ile)
|
rs2073331490
|
|
|
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)
|
rs397516436
|
|
|
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)
|
rs587778720
|
|
|
NM_000546.6(TP53):c.641A>G (p.His214Arg)
|
rs1057519992
|
|
|
NM_000546.6(TP53):c.642T>C (p.His214=)
|
rs587781386
|
|
|
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
|
rs886039484
|
|
|
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)
|
rs587782177
|
|
|
NM_000546.6(TP53):c.645T>G (p.Ser215Arg)
|
rs1057520001
|
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
|
NM_000546.6(TP53):c.646G>T (p.Val216Leu)
|
rs730882025
|
|
|
NM_000546.6(TP53):c.646GTG[2] (p.Val218del)
|
rs1597367938
|
|
|
NM_000546.6(TP53):c.651G>T (p.Val217=)
|
rs1555525747
|
|
|
NM_000546.6(TP53):c.653T>G (p.Val218Gly)
|
rs1555525743
|
|
|
NM_000546.6(TP53):c.654G>A (p.Val218=)
|
rs753630563
|
|
|
NM_000546.6(TP53):c.655C>T (p.Pro219Ser)
|
rs879253894
|
|
|
NM_000546.6(TP53):c.657C>A (p.Pro219=)
|
rs786201859
|
|
|
NM_000546.6(TP53):c.657C>T (p.Pro219=)
|
|
|
|
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)
|
rs530941076
|
|
|
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)
|
rs530941076
|
|
|
NM_000546.6(TP53):c.660T>A (p.Tyr220Ter)
|
rs1567551150
|
|
|
NM_000546.6(TP53):c.663G>A (p.Glu221=)
|
rs1060504161
|
|
|
NM_000546.6(TP53):c.666G>A (p.Pro222=)
|
rs72661118
|
|
|
NM_000546.6(TP53):c.666G>T (p.Pro222=)
|
rs72661118
|
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
|
NM_000546.6(TP53):c.672+1G>C
|
rs863224499
|
|
|
NM_000546.6(TP53):c.672+1G>T
|
rs863224499
|
|
|
NM_000546.6(TP53):c.672+6_672+8delinsTTG
|
rs2073318029
|
|
|
NM_000546.6(TP53):c.672G>A (p.Glu224=)
|
rs267605076
|
|
|
NM_000546.6(TP53):c.673-19G>A
|
rs564974117
|
|
|
NM_000546.6(TP53):c.673-1G>C
|
rs878854073
|
|
|
NM_000546.6(TP53):c.673-2A>G
|
rs1555525585
|
|
|
NM_000546.6(TP53):c.678C>T (p.Gly226=)
|
rs916168683
|
|
|
NM_000546.6(TP53):c.687T>C (p.Cys229=)
|
rs2151022242
|
|
|
NM_000546.6(TP53):c.690C>T (p.Thr230=)
|
rs2151022180
|
|
|
NM_000546.6(TP53):c.698ACTACA[1] (p.Asn235_Tyr236del)
|
rs794727846
|
|
|
NM_000546.6(TP53):c.699C>T (p.His233=)
|
rs2151022006
|
|
|
NM_000546.6(TP53):c.700T>C (p.Tyr234His)
|
rs864622237
|
|
|
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
|
rs864622237
|
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
|
NM_000546.6(TP53):c.703A>G (p.Asn235Asp)
|
rs786204145
|
|
|
NM_000546.6(TP53):c.705C>T (p.Asn235=)
|
rs750893877
|
|
|
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn)
|
rs587782289
|
|
|
NM_000546.6(TP53):c.706T>C (p.Tyr236His)
|
rs587782289
|
|
|
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp)
|
rs587782289
|
|
|
NM_000546.6(TP53):c.708C>T (p.Tyr236=)
|
rs1597365202
|
|
|
NM_000546.6(TP53):c.710T>A (p.Met237Lys)
|
rs765848205
|
|
|
NM_000546.6(TP53):c.711G>C (p.Met237Ile)
|
rs587782664
|
|
|
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)
|
rs1057519981
|
|
|
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)
|
rs730882005
|
|
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
rs730882005
|
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
|
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)
|
rs1057519999
|
|
|
NM_000546.6(TP53):c.717C>T (p.Asn239=)
|
rs1057522275
|
|
|
NM_000546.6(TP53):c.721T>A (p.Ser241Thr)
|
rs1057520002
|
|
|
NM_000546.6(TP53):c.721T>G (p.Ser241Ala)
|
rs1057520002
|
|
|
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)
|
rs28934573
|
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
|
NM_000546.6(TP53):c.723C>T (p.Ser241=)
|
rs2543562410
|
|
|
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)
|
rs1057519982
|
|
|
NM_000546.6(TP53):c.724T>C (p.Cys242Arg)
|
rs1057519982
|
|
|
NM_000546.6(TP53):c.725G>C (p.Cys242Ser)
|
rs121912655
|
|
|
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)
|
rs985033810
|
|
|
NM_000546.6(TP53):c.731G>C (p.Gly244Ala)
|
rs985033810
|
|
|
NM_000546.6(TP53):c.733G>C (p.Gly245Arg)
|
rs28934575
|
|
|
NM_000546.6(TP53):c.741C>T (p.Asn247=)
|
rs786202448
|
|
|
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)
|
rs121912651
|
|
|
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)
|
rs11540652
|
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
|
NM_000546.6(TP53):c.745A>G (p.Arg249Gly)
|
rs587782082
|
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
|
NM_000546.6(TP53):c.746G>T (p.Arg249Met)
|
rs587782329
|
|
|
NM_000546.6(TP53):c.747G>A (p.Arg249=)
|
rs28934571
|
|
|
NM_000546.6(TP53):c.747G>C (p.Arg249Ser)
|
rs28934571
|
|
|
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)
|
rs28934571
|
|
|
NM_000546.6(TP53):c.747_748delinsTA (p.Arg249_Pro250delinsSerThr)
|
rs2543559728
|
|
|
NM_000546.6(TP53):c.75-23_75-20del
|
|
|
|
NM_000546.6(TP53):c.752T>A (p.Ile251Asn)
|
rs730882027
|
|
|
NM_000546.6(TP53):c.752T>G (p.Ile251Ser)
|
rs730882027
|
|
|
NM_000546.6(TP53):c.753C>T (p.Ile251=)
|
rs878854074
|
|
|
NM_000546.6(TP53):c.754_762del (p.Leu252_Ile254del)
|
rs2073243450
|
|
|
NM_000546.6(TP53):c.756C>A (p.Leu252=)
|
rs1597364197
|
|
|
NM_000546.6(TP53):c.757A>C (p.Thr253Pro)
|
rs1597364185
|
|
|
NM_000546.6(TP53):c.758C>T (p.Thr253Ile)
|
rs1555525465
|
|
|
NM_000546.6(TP53):c.759_767del (p.Ile254_Thr256del)
|
rs2543557972
|
|
|
NM_000546.6(TP53):c.761T>A (p.Ile254Asn)
|
rs1330865474
|
|
|
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
|
rs1330865474
|
|
|
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del)
|
rs1064794309
|
|
|
NM_000546.6(TP53):c.763A>T (p.Ile255Phe)
|
rs1057519995
|
|
|
NM_000546.6(TP53):c.764T>A (p.Ile255Asn)
|
rs876659675
|
|
|
NM_000546.6(TP53):c.766A>C (p.Thr256Pro)
|
rs587781433
|
|
|
NM_000546.6(TP53):c.770T>C (p.Leu257Pro)
|
rs28934577
|
|
|
NM_000546.6(TP53):c.773A>G (p.Glu258Gly)
|
rs1060501201
|
|
|
NM_000546.6(TP53):c.776A>T (p.Asp259Val)
|
rs745425759
|
|
|
NM_000546.6(TP53):c.782+1G>T
|
rs1555525429
|
|
|
NM_000546.6(TP53):c.783-2A>G
|
rs1060501207
|
|
|
NM_000546.6(TP53):c.789T>C (p.Asn263=)
|
rs770598448
|
|
|
NM_000546.6(TP53):c.78T>C (p.Leu26=)
|
rs934176141
|
|
|
NM_000546.6(TP53):c.794T>C (p.Leu265Pro)
|
rs879253942
|
|
|
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
|
rs193920774
|
|
|
NM_000546.6(TP53):c.798A>T (p.Gly266=)
|
rs1555525321
|
|
|
NM_000546.6(TP53):c.799C>A (p.Arg267=)
|
rs55832599
|
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
|
NM_000546.6(TP53):c.801G>A (p.Arg267=)
|
rs1597362195
|
|
|
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)
|
rs1057519986
|
|
|
NM_000546.6(TP53):c.814G>A (p.Val272Met)
|
rs121912657
|
|
|
NM_000546.6(TP53):c.814G>T (p.Val272Leu)
|
rs121912657
|
|
|
NM_000546.6(TP53):c.815T>A (p.Val272Glu)
|
rs876660333
|
|
|
NM_000546.6(TP53):c.815T>G (p.Val272Gly)
|
rs876660333
|
|
|
NM_000546.6(TP53):c.816G>A (p.Val272=)
|
rs756421198
|
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.820G>T (p.Val274Phe)
|
rs1057520005
|
|
|
NM_000546.6(TP53):c.821T>G (p.Val274Gly)
|
rs1057520006
|
|
|
NM_000546.6(TP53):c.822T>G (p.Val274=)
|
rs2151016232
|
|
|
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)
|
rs1057519983
|
|
|
NM_000546.6(TP53):c.823T>G (p.Cys275Gly)
|
rs1057519983
|
|
|
NM_000546.6(TP53):c.827C>A (p.Ala276Asp)
|
rs786202082
|
|
|
NM_000546.6(TP53):c.830G>T (p.Cys277Phe)
|
rs763098116
|
|
|
NM_000546.6(TP53):c.831T>C (p.Cys277=)
|
rs1057523347
|
|
|
NM_000546.6(TP53):c.832C>A (p.Pro278Thr)
|
rs17849781
|
|
|
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)
|
rs17849781
|
|
|
NM_000546.6(TP53):c.833C>A (p.Pro278His)
|
rs876659802
|
|
|
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)
|
rs876659802
|
|
|
NM_000546.6(TP53):c.836G>A (p.Gly279Glu)
|
rs1064793881
|
|
|
NM_000546.6(TP53):c.838A>C (p.Arg280=)
|
rs753660142
|
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
|
NM_000546.6(TP53):c.839G>T (p.Arg280Ile)
|
rs121912660
|
|
|
NM_000546.6(TP53):c.841G>C (p.Asp281His)
|
rs764146326
|
|
|
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)
|
rs764146326
|
|
|
NM_000546.6(TP53):c.843C>T (p.Asp281=)
|
rs1057519984
|
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.846G>A (p.Arg282=)
|
rs1555525211
|
|
|
NM_000546.6(TP53):c.848G>C (p.Arg283Pro)
|
rs371409680
|
|
|
NM_000546.6(TP53):c.852A>C (p.Thr284=)
|
rs786203004
|
|
|
NM_000546.6(TP53):c.852A>G (p.Thr284=)
|
rs786203004
|
|
|
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)
|
rs786201059
|
|
|
NM_000546.6(TP53):c.856G>C (p.Glu286Gln)
|
rs786201059
|
|
|
NM_000546.6(TP53):c.876A>G (p.Lys292=)
|
rs2073180917
|
|
|
NM_000546.6(TP53):c.87C>T (p.Asn29=)
|
rs1011445550
|
|
|
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer)
|
rs2073171970
|
|
|
NM_000546.6(TP53):c.892G>A (p.Glu298Lys)
|
rs201744589
|
|
|
NM_000546.6(TP53):c.894G>A (p.Glu298=)
|
rs756123992
|
|
|
NM_000546.6(TP53):c.895C>T (p.Leu299=)
|
rs752701561
|
|
|
NM_000546.6(TP53):c.897G>A (p.Leu299=)
|
rs2151014201
|
|
|
NM_000546.6(TP53):c.900C>T (p.Pro300=)
|
rs767356182
|
|
|
NM_000546.6(TP53):c.912T>C (p.Thr304=)
|
rs1555525052
|
|
|
NM_000546.6(TP53):c.916C>A (p.Arg306=)
|
rs121913344
|
|
|
NM_000546.6(TP53):c.917_919+6del
|
rs1567546716
|
|
|
NM_000546.6(TP53):c.919+1G>A
|
rs1131691039
|
|
|
NM_000546.6(TP53):c.919+2T>G
|
rs1131691016
|
|
|
NM_000546.6(TP53):c.920-2A>G
|
rs397516439
|
|
|
NM_000546.6(TP53):c.920-3T>C
|
rs1367689213
|
|
|
NM_000546.6(TP53):c.921A>G (p.Ala307=)
|
rs2073161500
|
|
|
NM_000546.6(TP53):c.922C>T (p.Leu308=)
|
rs1555525016
|
|
|
NM_000546.6(TP53):c.924G>A (p.Leu308=)
|
rs786202546
|
|
|
NM_000546.6(TP53):c.924G>C (p.Leu308=)
|
rs786202546
|
|
|
NM_000546.6(TP53):c.927C>T (p.Pro309=)
|
rs1393711933
|
|
|
NM_000546.6(TP53):c.930C>T (p.Asn310=)
|
rs876660829
|
|
|
NM_000546.6(TP53):c.933C>T (p.Asn311=)
|
rs201601993
|
|
|
NM_000546.6(TP53):c.93T>G (p.Val31=)
|
rs1406108270
|
|
|
NM_000546.6(TP53):c.942C>A (p.Ser314=)
|
rs765930028
|
|
|
NM_000546.6(TP53):c.948C>T (p.Pro316=)
|
rs1427959882
|
|
|
NM_000546.6(TP53):c.951G>A (p.Gln317=)
|
rs1060501199
|
|
|
NM_000546.6(TP53):c.954A>G (p.Pro318=)
|
rs761322293
|
|
|
NM_000546.6(TP53):c.96+1G>A
|
rs1131691003
|
|
|
NM_000546.6(TP53):c.96+1G>C
|
rs1131691003
|
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
|
NM_000546.6(TP53):c.963A>G (p.Lys321=)
|
rs2151011521
|
|
|
NM_000546.6(TP53):c.966A>G (p.Pro322=)
|
rs2543526769
|
|
|
NM_000546.6(TP53):c.97-1G>T
|
rs1597375294
|
|
|
NM_000546.6(TP53):c.975A>G (p.Gly325=)
|
rs1245012034
|
|
|
NM_000546.6(TP53):c.987C>T (p.Thr329=)
|
rs2151010987
|
|
|
NM_000546.6(TP53):c.993+5T>G
|
rs1310956961
|
|
|
NM_000546.6(TP53):c.993+8G>A
|
rs1060504163
|
|
|
NM_000546.6(TP53):c.993G>A (p.Gln331=)
|
rs11575996
|
|
|
NM_000546.6(TP53):c.994-1G>A
|
rs587782272
|
|
|
NM_000546.6(TP53):c.994-1G>C
|
rs587782272
|
|
|
NM_000546.6(TP53):c.994-2A>G
|
rs867389695
|
|
|
NM_000546.6(TP53):c.996C>T (p.Ile332=)
|
rs1555524470
|
|
|
NM_000546.6(TP53):c.9G>A (p.Glu3=)
|
rs1555527028
|
|
|
NM_000548.5(TSC2):c.1014C>T (p.Ile338=)
|
rs1250621196
|
|
|
NM_000548.5(TSC2):c.1018C>T (p.Leu340=)
|
rs2151135855
|
|
|
NM_000548.5(TSC2):c.1023C>T (p.Ser341=)
|
rs2086525075
|
|
|
NM_000548.5(TSC2):c.1029C>T (p.Thr343=)
|
rs45468201
|
|
|
NM_000548.5(TSC2):c.1032G>A (p.Arg344=)
|
rs1057524033
|
|
|
NM_000548.5(TSC2):c.1035C>T (p.Leu345=)
|
rs1476429068
|
|
|
NM_000548.5(TSC2):c.1047T>C (p.Tyr349=)
|
rs1042628888
|
|
|
NM_000548.5(TSC2):c.1050G>A (p.Arg350=)
|
rs1371264521
|
|
|
NM_000548.5(TSC2):c.1053G>A (p.Lys351=)
|
rs2151137077
|
|
|
NM_000548.5(TSC2):c.1062G>A (p.Gln354=)
|
rs771943476
|
|
|
NM_000548.5(TSC2):c.1080T>C (p.Ile360=)
|
rs2086534827
|
|
|
NM_000548.5(TSC2):c.1083G>A (p.Leu361=)
|
rs1057524138
|
|
|
NM_000548.5(TSC2):c.1086G>A (p.Leu362=)
|
rs1416323572
|
|
|
NM_000548.5(TSC2):c.1086G>C (p.Leu362=)
|
rs1416323572
|
|
|
NM_000548.5(TSC2):c.1092C>T (p.Ile364=)
|
rs2151138326
|
|
|
NM_000548.5(TSC2):c.1101G>C (p.Arg367=)
|
rs45517149
|
|
|
NM_000548.5(TSC2):c.1119+6G>T
|
rs397515305
|
|
|
NM_000548.5(TSC2):c.1120-12C>T
|
rs773688581
|
|
|
NM_000548.5(TSC2):c.1128C>T (p.Asp376=)
|
rs1183791367
|
|
|
NM_000548.5(TSC2):c.1146C>T (p.Thr382=)
|
rs887128869
|
|
|
NM_000548.5(TSC2):c.1149C>T (p.Ile383=)
|
rs764246333
|
|
|
NM_000548.5(TSC2):c.114T>C (p.Phe38=)
|
rs1060504110
|
|
|
NM_000548.5(TSC2):c.1155T>C (p.His385=)
|
rs2151154815
|
|
|
NM_000548.5(TSC2):c.1158C>T (p.Asp386=)
|
rs2151154909
|
|
|
NM_000548.5(TSC2):c.1161G>A (p.Leu387=)
|
rs781336082
|
|
|
NM_000548.5(TSC2):c.1161G>C (p.Leu387=)
|
rs781336082
|
|
|
NM_000548.5(TSC2):c.1167C>T (p.Thr389=)
|
rs745774782
|
|
|
NM_000548.5(TSC2):c.1179G>A (p.Glu393=)
|
rs2151155465
|
|
|
NM_000548.5(TSC2):c.1180C>T (p.Leu394=)
|
rs1409309186
|
|
|
NM_000548.5(TSC2):c.1182G>A (p.Leu394=)
|
rs779951754
|
|
|
NM_000548.5(TSC2):c.1206G>C (p.Gly402=)
|
rs558873383
|
|
|
NM_000548.5(TSC2):c.1215G>A (p.Glu405=)
|
rs2151156348
|
|
|
NM_000548.5(TSC2):c.1228C>T (p.Leu410=)
|
rs528727637
|
|
|
NM_000548.5(TSC2):c.1236G>A (p.Glu412=)
|
rs1596303728
|
|
|
NM_000548.5(TSC2):c.1248C>T (p.Asp416=)
|
rs1555501144
|
|
|
NM_000548.5(TSC2):c.1257+10C>G
|
rs756063576
|
|
|
NM_000548.5(TSC2):c.1257+9C>G
|
rs1166139497
|
|
|
NM_000548.5(TSC2):c.1260G>A (p.Glu420=)
|
rs876658585
|
|
|
NM_000548.5(TSC2):c.126G>A (p.Ala42=)
|
rs886043548
|
|
|
NM_000548.5(TSC2):c.126G>C (p.Ala42=)
|
rs886043548
|
|
|
NM_000548.5(TSC2):c.1275C>T (p.Asn425=)
|
rs878854076
|
|
|
NM_000548.5(TSC2):c.1276C>G (p.Leu426Val)
|
rs45478593
|
|
|
NM_000548.5(TSC2):c.1278G>A (p.Leu426=)
|
rs749771063
|
|
|
NM_000548.5(TSC2):c.1281C>T (p.Ile427=)
|
rs45478892
|
|
|
NM_000548.5(TSC2):c.1293G>T (p.Ala431=)
|
rs45517162
|
|
|
NM_000548.5(TSC2):c.1299C>T (p.Ser433=)
|
rs993220492
|
|
|
NM_000548.5(TSC2):c.1305C>T (p.His435=)
|
rs766461065
|
|
|
NM_000548.5(TSC2):c.1308G>C (p.Pro436=)
|
rs753764275
|
|
|
NM_000548.5(TSC2):c.1308G>T (p.Pro436=)
|
rs753764275
|
|
|
NM_000548.5(TSC2):c.1311C>A (p.Ala437=)
|
rs752435039
|
|
|
NM_000548.5(TSC2):c.1320C>G (p.Gly440=)
|
rs983982198
|
|
|
NM_000548.5(TSC2):c.133C>T (p.Leu45=)
|
rs1555494707
|
|
|
NM_000548.5(TSC2):c.1341G>T (p.Ala447=)
|
rs141609319
|
|
|
NM_000548.5(TSC2):c.1356C>T (p.Phe452=)
|
rs769147552
|
|
|
NM_000548.5(TSC2):c.135G>C (p.Leu45=)
|
rs1555494715
|
|
|
NM_000548.5(TSC2):c.1361+8del
|
rs746102053
|
|
|
NM_000548.5(TSC2):c.1362-4G>A
|
rs397515145
|
|
|
NM_000548.5(TSC2):c.1377C>G (p.Gly459=)
|
rs45517170
|
|
|
NM_000548.5(TSC2):c.1386C>T (p.Arg462=)
|
|
|
|
NM_000548.5(TSC2):c.1404G>C (p.Val468=)
|
rs778247396
|
|
|
NM_000548.5(TSC2):c.1410C>T (p.Ser470=)
|
rs2151172357
|
|
|
NM_000548.5(TSC2):c.141A>G (p.Glu47=)
|
rs137854133
|
|
|
NM_000548.5(TSC2):c.1428C>T (p.Asn476=)
|
rs2151172933
|
|
|
NM_000548.5(TSC2):c.1434G>A (p.Gln478=)
|
rs1555501735
|
|
|
NM_000548.5(TSC2):c.1449G>A (p.Glu483=)
|
rs768511587
|
|
|
NM_000548.5(TSC2):c.1455T>A (p.Ile485=)
|
|
|
|
NM_000548.5(TSC2):c.1467C>G (p.Val489=)
|
rs2151188723
|
|
|
NM_000548.5(TSC2):c.1473G>C (p.Ser491=)
|
rs764767361
|
|
|
NM_000548.5(TSC2):c.1476G>A (p.Gln492=)
|
rs1596311941
|
|
|
NM_000548.5(TSC2):c.1479C>T (p.Leu493=)
|
rs137854145
|
|
|
NM_000548.5(TSC2):c.147C>T (p.Ser49=)
|
rs1555495692
|
|
|
NM_000548.5(TSC2):c.1485C>T (p.His495=)
|
rs2151189170
|
|
|
NM_000548.5(TSC2):c.1491C>G (p.Pro497=)
|
rs781367910
|
|
|
NM_000548.5(TSC2):c.1503C>T (p.Asp501=)
|
rs2087016490
|
|
|
NM_000548.5(TSC2):c.1506C>T (p.His502=)
|
rs2548570951
|
|
|
NM_000548.5(TSC2):c.1512C>T (p.Val504=)
|
rs146359990
|
|
|
NM_000548.5(TSC2):c.1533G>A (p.Leu511=)
|
rs771932622
|
|
|
NM_000548.5(TSC2):c.153A>G (p.Glu51=)
|
rs746366461
|
|
|
NM_000548.5(TSC2):c.1545G>C (p.Leu515=)
|
rs2548571705
|
|
|
NM_000548.5(TSC2):c.1548A>G (p.Ala516=)
|
rs2151190793
|
|
|
NM_000548.5(TSC2):c.1551G>A (p.Glu517=)
|
rs1567437828
|
|
|
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn)
|
rs376573446
|
|
|
NM_000548.5(TSC2):c.1579C>T (p.Leu527=)
|
rs762173463
|
|
|
NM_000548.5(TSC2):c.1581G>A (p.Leu527=)
|
rs2151191739
|
|
|
NM_000548.5(TSC2):c.1590C>A (p.Ile530=)
|
rs2151191998
|
|
|
NM_000548.5(TSC2):c.1608C>G (p.Ala536=)
|
rs2151206478
|
|
|
NM_000548.5(TSC2):c.1611C>T (p.Arg537=)
|
rs45469702
|
|
|
NM_000548.5(TSC2):c.1614C>T (p.Ser538=)
|
rs759762459
|
|
|
NM_000548.5(TSC2):c.1617C>A (p.Leu539=)
|
rs1596317183
|
|
|
NM_000548.5(TSC2):c.1617C>T (p.Leu539=)
|
rs1596317183
|
|
|
NM_000548.5(TSC2):c.1626C>G (p.Pro542=)
|
rs376234285
|
|
|
NM_000548.5(TSC2):c.1626C>T (p.Pro542=)
|
rs376234285
|
|
|
NM_000548.5(TSC2):c.1633C>T (p.Leu545=)
|
rs1060504103
|
|
|
NM_000548.5(TSC2):c.1635G>A (p.Leu545=)
|
rs755923499
|
|
|
NM_000548.5(TSC2):c.1653C>G (p.Ala551=)
|
rs202171361
|
|
|
NM_000548.5(TSC2):c.165C>T (p.Asn55=)
|
rs1596245687
|
|
|
NM_000548.5(TSC2):c.1665C>T (p.Ala555=)
|
rs2151208963
|
|
|
NM_000548.5(TSC2):c.1668C>G (p.Ser556=)
|
rs764091433
|
|
|
NM_000548.5(TSC2):c.1668C>T (p.Ser556=)
|
rs764091433
|
|
|
NM_000548.5(TSC2):c.1692C>T (p.Val564=)
|
rs2151210021
|
|
|
NM_000548.5(TSC2):c.1710C>T (p.Ile570=)
|
rs1470229525
|
|
|
NM_000548.5(TSC2):c.1713T>C (p.Leu571=)
|
rs2151210746
|
|
|
NM_000548.5(TSC2):c.1717-15G>A
|
rs372949465
|
|
|
NM_000548.5(TSC2):c.1722G>A (p.Lys574=)
|
rs1596336026
|
|
|
NM_000548.5(TSC2):c.1725G>A (p.Leu575=)
|
rs747173035
|
|
|
NM_000548.5(TSC2):c.1725G>T (p.Leu575=)
|
rs747173035
|
|
|
NM_000548.5(TSC2):c.1728C>T (p.Tyr576=)
|
rs966102111
|
|
|
NM_000548.5(TSC2):c.1732C>T (p.Leu578=)
|
rs1204972424
|
|
|
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala)
|
rs45517196
|
|
|
NM_000548.5(TSC2):c.1743C>T (p.Ser581=)
|
rs775195398
|
|
|
NM_000548.5(TSC2):c.174C>T (p.Ile58=)
|
rs2150995862
|
|
|
NM_000548.5(TSC2):c.1755T>C (p.Arg585=)
|
rs755484371
|
|
|
NM_000548.5(TSC2):c.1770G>C (p.Leu590=)
|
rs778109774
|
|
|
NM_000548.5(TSC2):c.1773C>T (p.Val591=)
|
rs1596336485
|
|
|
NM_000548.5(TSC2):c.1776C>T (p.Ser592=)
|
rs1555505122
|
|
|
NM_000548.5(TSC2):c.1797G>A (p.Lys599=)
|
rs1168827262
|
|
|
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn)
|
rs758239066
|
|
|
NM_000548.5(TSC2):c.1815A>T (p.Pro605=)
|
rs961687056
|
|
|
NM_000548.5(TSC2):c.1821G>C (p.Ala607=)
|
rs149543046
|
|
|
NM_000548.5(TSC2):c.1824C>T (p.Ser608=)
|
rs886038351
|
|
|
NM_000548.5(TSC2):c.1840-4A>G
|
rs1057523736
|
|
|
NM_000548.5(TSC2):c.1845T>C (p.Phe615=)
|
rs1281870505
|
|
|
NM_000548.5(TSC2):c.1852C>T (p.Leu618=)
|
rs1164507294
|
|
|
NM_000548.5(TSC2):c.1858C>T (p.Leu620=)
|
rs1212638240
|
|
|
NM_000548.5(TSC2):c.1863G>T (p.Leu621=)
|
rs1485599658
|
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
|
NM_000548.5(TSC2):c.1866G>A (p.Arg622=)
|
rs1397060903
|
|
|
NM_000548.5(TSC2):c.1866G>T (p.Arg622=)
|
rs1397060903
|
|
|
NM_000548.5(TSC2):c.1869C>G (p.Ala623=)
|
rs111244727
|
|
|
NM_000548.5(TSC2):c.1872C>T (p.Asp624=)
|
rs1596342301
|
|
|
NM_000548.5(TSC2):c.1875A>C (p.Ser625=)
|
rs1555505786
|
|
|
NM_000548.5(TSC2):c.1881C>T (p.His627=)
|
rs967430707
|
|
|
NM_000548.5(TSC2):c.1884C>T (p.Arg628=)
|
rs1225653495
|
|
|
NM_000548.5(TSC2):c.1899C>T (p.Asn633=)
|
rs2088398113
|
|
|
NM_000548.5(TSC2):c.1914G>A (p.Val638=)
|
rs933464584
|
|
|
NM_000548.5(TSC2):c.1917G>A (p.Arg639=)
|
rs2151298410
|
|
|
NM_000548.5(TSC2):c.1929C>T (p.Tyr643=)
|
rs368710573
|
|
|
NM_000548.5(TSC2):c.1935C>G (p.Val645=)
|
rs1596342693
|
|
|
NM_000548.5(TSC2):c.1935C>T (p.Val645=)
|
rs1596342693
|
|
|
NM_000548.5(TSC2):c.1947-4G>A
|
rs201633455
|
|
|
NM_000548.5(TSC2):c.1950G>A (p.Glu650=)
|
rs2151303677
|
|
|
NM_000548.5(TSC2):c.1971G>A (p.Lys657=)
|
rs1596344117
|
|
|
NM_000548.5(TSC2):c.1980C>T (p.Ser660=)
|
rs959705365
|
|
|
NM_000548.5(TSC2):c.198A>G (p.Glu66=)
|
rs1596245865
|
|
|
NM_000548.5(TSC2):c.1998C>T (p.Pro666=)
|
rs1474891284
|
|
|
NM_000548.5(TSC2):c.2001A>G (p.Thr667=)
|
rs1412129753
|
|
|
NM_000548.5(TSC2):c.2004G>A (p.Gly668=)
|
rs746307631
|
|
|
NM_000548.5(TSC2):c.2004G>T (p.Gly668=)
|
rs746307631
|
|
|
NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp)
|
rs775881847
|
|
|
NM_000548.5(TSC2):c.2013C>T (p.Gly671=)
|
rs566848799
|
|
|
NM_000548.5(TSC2):c.201C>G (p.Val67=)
|
rs45460096
|
|
|
NM_000548.5(TSC2):c.2020C>T (p.Pro674Ser)
|
rs760566516
|
|
|
NM_000548.5(TSC2):c.2025A>G (p.Ala675=)
|
rs766113544
|
|
|
NM_000548.5(TSC2):c.2028C>G (p.Gly676=)
|
rs1057520807
|
|
|
NM_000548.5(TSC2):c.2031C>G (p.Pro677=)
|
rs45517208
|
|
|
NM_000548.5(TSC2):c.2040G>T (p.Arg680=)
|
rs1596344740
|
|
|
NM_000548.5(TSC2):c.2041C>T (p.Leu681=)
|
rs780502079
|
|
|
NM_000548.5(TSC2):c.2049C>A (p.Ser683=)
|
rs569518378
|
|
|
NM_000548.5(TSC2):c.2061C>A (p.Ser687=)
|
rs1596344926
|
|
|
NM_000548.5(TSC2):c.2067C>T (p.Leu689=)
|
rs1060504107
|
|
|
NM_000548.5(TSC2):c.2073C>A (p.Arg691=)
|
rs45512398
|
|
|
NM_000548.5(TSC2):c.2079G>A (p.Leu693=)
|
rs764932531
|
|
|
NM_000548.5(TSC2):c.2088C>T (p.Cys696=)
|
rs137854217
|
|
|
NM_000548.5(TSC2):c.2089T>C (p.Leu697=)
|
rs1596345177
|
|
|
NM_000548.5(TSC2):c.2097+10del
|
rs2151309351
|
|
|
NM_000548.5(TSC2):c.210C>G (p.Thr70=)
|
rs2084966494
|
|
|
NM_000548.5(TSC2):c.2112G>A (p.Lys704=)
|
rs1555506423
|
|
|
NM_000548.5(TSC2):c.2121G>A (p.Lys707=)
|
rs2151316314
|
|
|
NM_000548.5(TSC2):c.2130G>A (p.Leu710=)
|
rs747122485
|
|
|
NM_000548.5(TSC2):c.2136G>A (p.Arg712=)
|
rs995073369
|
|
|
NM_000548.5(TSC2):c.213G>A (p.Lys71=)
|
rs766200310
|
|
|
NM_000548.5(TSC2):c.2145G>A (p.Glu715=)
|
rs1596347274
|
|
|
NM_000548.5(TSC2):c.2148C>T (p.Ser716=)
|
|
|
|
NM_000548.5(TSC2):c.2154C>A (p.Arg718=)
|
rs878854081
|
|
|
NM_000548.5(TSC2):c.2154C>T (p.Arg718=)
|
rs878854081
|
|
|
NM_000548.5(TSC2):c.2166C>A (p.Leu722=)
|
rs1009050362
|
|
|
NM_000548.5(TSC2):c.216A>G (p.Lys72=)
|
rs1201047547
|
|
|
NM_000548.5(TSC2):c.2172T>C (p.Phe724=)
|
rs2151318241
|
|
|
NM_000548.5(TSC2):c.2178C>T (p.Ser726=)
|
rs1380835459
|
|
|
NM_000548.5(TSC2):c.2193C>T (p.Asp731=)
|
rs760053529
|
|
|
NM_000548.5(TSC2):c.2197C>T (p.Leu733=)
|
rs397515163
|
|
|
NM_000548.5(TSC2):c.2211C>A (p.Leu737=)
|
rs369851248
|
|
|
NM_000548.5(TSC2):c.2217C>T (p.Ser739=)
|
rs1596347651
|
|
|
NM_000548.5(TSC2):c.2232A>C (p.Pro744=)
|
rs1259596608
|
|
|
NM_000548.5(TSC2):c.2238A>C (p.Thr746=)
|
rs1060504115
|
|
|
NM_000548.5(TSC2):c.2256C>A (p.Gly752=)
|
rs778981034
|
|
|
NM_000548.5(TSC2):c.2262A>G (p.Pro754=)
|
rs2088691180
|
|
|
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)
|
rs574779350
|
|
|
NM_000548.5(TSC2):c.2271C>T (p.Phe757=)
|
rs1555506918
|
|
|
NM_000548.5(TSC2):c.2274C>T (p.Ser758=)
|
rs2151327344
|
|
|
NM_000548.5(TSC2):c.2290C>T (p.Leu764=)
|
rs777614710
|
|
|
NM_000548.5(TSC2):c.2292G>A (p.Leu764=)
|
|
|
|
NM_000548.5(TSC2):c.2295C>G (p.Ala765=)
|
rs45509500
|
|
|
NM_000548.5(TSC2):c.229G>T (p.Ala77Ser)
|
rs777459404
|
|
|
NM_000548.5(TSC2):c.2301T>C (p.Val767=)
|
rs531724951
|
|
|
NM_000548.5(TSC2):c.2301T>G (p.Val767=)
|
rs531724951
|
|
|
NM_000548.5(TSC2):c.2313A>T (p.Thr771=)
|
rs876658215
|
|
|
NM_000548.5(TSC2):c.2319A>G (p.Leu773=)
|
rs1359991984
|
|
|
NM_000548.5(TSC2):c.231A>C (p.Ala77=)
|
rs2151026046
|
|
|
NM_000548.5(TSC2):c.2328C>T (p.Tyr776=)
|
rs45517225
|
|
|
NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile)
|
rs562945619
|
|
|
NM_000548.5(TSC2):c.2352A>G (p.Lys784=)
|
rs1596350666
|
|
|
NM_000548.5(TSC2):c.2358C>A (p.Arg786=)
|
rs372834284
|
|
|
NM_000548.5(TSC2):c.2376G>A (p.Leu792=)
|
rs1596356233
|
|
|
NM_000548.5(TSC2):c.2382G>A (p.Gln794=)
|
rs778138047
|
|
|
NM_000548.5(TSC2):c.2394C>T (p.His798=)
|
rs547019464
|
|
|
NM_000548.5(TSC2):c.2397C>T (p.Arg799=)
|
rs2151348621
|
|
|
NM_000548.5(TSC2):c.240A>G (p.Ala80=)
|
|
|
|
NM_000548.5(TSC2):c.2421C>T (p.Ala807=)
|
rs1060504089
|
|
|
NM_000548.5(TSC2):c.2472T>C (p.Pro824=)
|
rs1596356689
|
|
|
NM_000548.5(TSC2):c.2475T>C (p.Val825=)
|
rs2088932822
|
|
|
NM_000548.5(TSC2):c.2478G>C (p.Leu826=)
|
rs1398112464
|
|
|
NM_000548.5(TSC2):c.2490C>T (p.Leu830=)
|
rs768573698
|
|
|
NM_000548.5(TSC2):c.2493G>A (p.Thr831=)
|
rs773645613
|
|
|
NM_000548.5(TSC2):c.2499C>T (p.Ile833=)
|
rs2151354582
|
|
|
NM_000548.5(TSC2):c.2505C>T (p.Ala835=)
|
rs1200802987
|
|
|
NM_000548.5(TSC2):c.2508A>T (p.Thr836=)
|
rs137854242
|
|
|
NM_000548.5(TSC2):c.2520C>G (p.Ala840=)
|
rs147683438
|
|
|
NM_000548.5(TSC2):c.2520C>T (p.Ala840=)
|
rs147683438
|
|
|
NM_000548.5(TSC2):c.2530C>T (p.Leu844=)
|
rs1596357053
|
|
|
NM_000548.5(TSC2):c.2538C>T (p.Phe846=)
|
rs1360361868
|
|
|
NM_000548.5(TSC2):c.2546-5C>G
|
rs45517247
|
|
|
NM_000548.5(TSC2):c.2547T>C (p.Thr849=)
|
rs1596364841
|
|
|
NM_000548.5(TSC2):c.2550G>A (p.Leu850=)
|
rs781100484
|
|
|
NM_000548.5(TSC2):c.258G>C (p.Ala86=)
|
rs397514912
|
|
|
NM_000548.5(TSC2):c.2592G>A (p.Gln864=)
|
rs763099064
|
|
|
NM_000548.5(TSC2):c.2598C>A (p.Ala866=)
|
rs1395372159
|
|
|
NM_000548.5(TSC2):c.2613C>T (p.Ile871=)
|
rs1555508408
|
|
|
NM_000548.5(TSC2):c.2617C>T (p.Leu873=)
|
rs1555508418
|
|
|
NM_000548.5(TSC2):c.2637C>T (p.Ser879=)
|
rs1596365444
|
|
|
NM_000548.5(TSC2):c.2640-2A>G
|
rs137854380
|
|
|
NM_000548.5(TSC2):c.264G>A (p.Leu88=)
|
rs1466279830
|
|
|
NM_000548.5(TSC2):c.2658G>A (p.Val886=)
|
rs1035837417
|
|
|
NM_000548.5(TSC2):c.2676C>T (p.Val892=)
|
|
|
|
NM_000548.5(TSC2):c.2682C>T (p.Ala894=)
|
rs45517253
|
|
|
NM_000548.5(TSC2):c.2704C>T (p.Leu902=)
|
rs756696525
|
|
|
NM_000548.5(TSC2):c.2709C>A (p.Pro903=)
|
rs780558633
|
|
|
NM_000548.5(TSC2):c.2709C>T (p.Pro903=)
|
rs780558633
|
|
|
NM_000548.5(TSC2):c.2712C>T (p.Phe904=)
|
rs137920189
|
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
|
NM_000548.5(TSC2):c.2727C>G (p.Val909=)
|
rs2151388902
|
|
|
NM_000548.5(TSC2):c.2733C>T (p.Phe911=)
|
rs1596367012
|
|
|
NM_000548.5(TSC2):c.2739T>C (p.Thr913=)
|
rs773285889
|
|
|
NM_000548.5(TSC2):c.273G>T (p.Pro91=)
|
rs772296140
|
|
|
NM_000548.5(TSC2):c.2743-10A>G
|
rs1060504094
|
|
|
NM_000548.5(TSC2):c.2743-19G>A
|
rs539121865
|
|
|
NM_000548.5(TSC2):c.2745C>T (p.Gly915=)
|
rs2151393775
|
|
|
NM_000548.5(TSC2):c.2746C>T (p.Leu916=)
|
rs137854274
|
|
|
NM_000548.5(TSC2):c.2751G>A (p.Arg917=)
|
rs1555508897
|
|
|
NM_000548.5(TSC2):c.2759T>C (p.Val920Ala)
|
rs749383639
|
|
|
NM_000548.5(TSC2):c.2763C>T (p.Leu921=)
|
rs771817176
|
|
|
NM_000548.5(TSC2):c.276G>A (p.Glu92=)
|
rs1271369775
|
|
|
NM_000548.5(TSC2):c.2781C>A (p.Thr927=)
|
rs376275903
|
|
|
NM_000548.5(TSC2):c.2784C>G (p.Pro928=)
|
rs45517267
|
|
|
NM_000548.5(TSC2):c.2787G>A (p.Glu929=)
|
rs968144525
|
|
|
NM_000548.5(TSC2):c.2793C>T (p.Asp931=)
|
rs2151395350
|
|
|
NM_000548.5(TSC2):c.27A>G (p.Ser9=)
|
rs1555494555
|
|
|
NM_000548.5(TSC2):c.2802G>A (p.Arg934=)
|
rs2151395548
|
|
|
NM_000548.5(TSC2):c.2820C>T (p.Leu940=)
|
rs876659493
|
|
|
NM_000548.5(TSC2):c.282G>T (p.Pro94=)
|
rs145624233
|
|
|
NM_000548.5(TSC2):c.2832C>T (p.Pro944=)
|
rs2151396371
|
|
|
NM_000548.5(TSC2):c.2835G>A (p.Lys945=)
|
rs780292534
|
|
|
NM_000548.5(TSC2):c.2842A>C (p.Arg948=)
|
rs770710202
|
|
|
NM_000548.5(TSC2):c.2849C>T (p.Ala950Val)
|
rs780737734
|
|
|
NM_000548.5(TSC2):c.2877C>T (p.Asn959=)
|
rs147523833
|
|
|
NM_000548.5(TSC2):c.2883A>T (p.Pro961=)
|
rs1596374943
|
|
|
NM_000548.5(TSC2):c.2916C>G (p.Ala972=)
|
rs751474097
|
|
|
NM_000548.5(TSC2):c.2916C>T (p.Ala972=)
|
rs751474097
|
|
|
NM_000548.5(TSC2):c.2928G>A (p.Arg976=)
|
rs2151415832
|
|
|
NM_000548.5(TSC2):c.2934C>T (p.Arg978=)
|
rs2089594737
|
|
|
NM_000548.5(TSC2):c.2940C>T (p.Ile980=)
|
rs2151416105
|
|
|
NM_000548.5(TSC2):c.294G>A (p.Arg98=)
|
rs2085370771
|
|
|
NM_000548.5(TSC2):c.294G>C (p.Arg98=)
|
rs2085370771
|
|
|
NM_000548.5(TSC2):c.2961C>A (p.Val987=)
|
rs775637322
|
|
|
NM_000548.5(TSC2):c.2961C>T (p.Val987=)
|
rs775637322
|
|
|
NM_000548.5(TSC2):c.2973A>C (p.Ile991=)
|
rs750003833
|
|
|
NM_000548.5(TSC2):c.2985C>T (p.Leu995=)
|
rs786203324
|
|
|
NM_000548.5(TSC2):c.3000G>A (p.Leu1000=)
|
rs2151431126
|
|
|
NM_000548.5(TSC2):c.3003G>A (p.Gly1001=)
|
rs768864105
|
|
|
NM_000548.5(TSC2):c.300G>T (p.Ala100=)
|
rs45517100
|
|
|
NM_000548.5(TSC2):c.3027C>G (p.Ala1009=)
|
rs1320888448
|
|
|
NM_000548.5(TSC2):c.3045G>A (p.Leu1015=)
|
|
|
|
NM_000548.5(TSC2):c.3069G>T (p.Thr1023=)
|
rs373950550
|
|
|
NM_000548.5(TSC2):c.3075C>G (p.Thr1025=)
|
rs1596382606
|
|
|
NM_000548.5(TSC2):c.3084C>T (p.Asp1028=)
|
rs1555510350
|
|
|
NM_000548.5(TSC2):c.30C>G (p.Gly10=)
|
rs876659726
|
|
|
NM_000548.5(TSC2):c.3102C>G (p.Val1034=)
|
rs562998574
|
|
|
NM_000548.5(TSC2):c.3102C>T (p.Val1034=)
|
rs562998574
|
|
|
NM_000548.5(TSC2):c.3105C>T (p.Phe1035=)
|
rs2151434410
|
|
|
NM_000548.5(TSC2):c.3108C>T (p.Ser1036=)
|
rs377575867
|
|
|
NM_000548.5(TSC2):c.310C>T (p.Leu104=)
|
rs1596259554
|
|
|
NM_000548.5(TSC2):c.3111C>T (p.Asn1037=)
|
rs1222753588
|
|
|
NM_000548.5(TSC2):c.3114C>T (p.Phe1038=)
|
rs1567497089
|
|
|
NM_000548.5(TSC2):c.3123C>T (p.Val1041=)
|
rs776710692
|
|
|
NM_000548.5(TSC2):c.3126G>A (p.Pro1042=)
|
rs36078782
|
|
|
NM_000548.5(TSC2):c.3132-15C>T
|
rs769659537
|
|
|
NM_000548.5(TSC2):c.313C>T (p.Leu105=)
|
rs2151028526
|
|
|
NM_000548.5(TSC2):c.3177C>G (p.Thr1059=)
|
rs1031918517
|
|
|
NM_000548.5(TSC2):c.3177C>T (p.Thr1059=)
|
rs1031918517
|
|
|
NM_000548.5(TSC2):c.3192C>G (p.Asn1064Lys)
|
rs201670791
|
|
|
NM_000548.5(TSC2):c.31T>C (p.Leu11=)
|
rs978517404
|
|
|
NM_000548.5(TSC2):c.3201C>T (p.Val1067=)
|
rs781532053
|
|
|
NM_000548.5(TSC2):c.3210G>C (p.Thr1070=)
|
rs539927192
|
|
|
NM_000548.5(TSC2):c.3210G>T (p.Thr1070=)
|
rs539927192
|
|
|
NM_000548.5(TSC2):c.321C>T (p.Ala107=)
|
rs1280933774
|
|
|
NM_000548.5(TSC2):c.3228G>C (p.Gly1076=)
|
rs771763773
|
|
|
NM_000548.5(TSC2):c.3246C>T (p.Gly1082=)
|
rs764691385
|
|
|
NM_000548.5(TSC2):c.3247C>T (p.Leu1083=)
|
rs752010244
|
|
|
NM_000548.5(TSC2):c.3252C>T (p.Asp1084=)
|
rs45517286
|
|
|
NM_000548.5(TSC2):c.3255G>A (p.Ser1085=)
|
rs750617693
|
|
|
NM_000548.5(TSC2):c.3255G>C (p.Ser1085=)
|
rs750617693
|
|
|
NM_000548.5(TSC2):c.3255G>T (p.Ser1085=)
|
rs750617693
|
|
|
NM_000548.5(TSC2):c.3261G>A (p.Glu1087=)
|
rs45438093
|
|
|
NM_000548.5(TSC2):c.3264G>A (p.Leu1088=)
|
rs920434484
|
|
|
NM_000548.5(TSC2):c.3267G>A (p.Gln1089=)
|
rs1555510717
|
|
|
NM_000548.5(TSC2):c.3273C>G (p.Gly1091=)
|
|
|
|
NM_000548.5(TSC2):c.3276G>C (p.Pro1092=)
|
rs368923127
|
|
|
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu)
|
rs397514887
|
|
|
NM_000548.5(TSC2):c.3284+3G>A
|
rs2089847916
|
|
|
NM_000548.5(TSC2):c.3285-13A>T
|
rs2544063648
|
|
|
NM_000548.5(TSC2):c.3291C>G (p.Ser1097Arg)
|
rs1173297358
|
|
|
NM_000548.5(TSC2):c.3291C>T (p.Ser1097=)
|
rs1173297358
|
|
|
NM_000548.5(TSC2):c.3321G>A (p.Glu1107=)
|
rs1596385920
|
|
|
NM_000548.5(TSC2):c.3324G>A (p.Ala1108=)
|
rs786203392
|
|
|
NM_000548.5(TSC2):c.3324G>T (p.Ala1108=)
|
rs786203392
|
|
|
NM_000548.5(TSC2):c.3327G>T (p.Pro1109=)
|
rs45478393
|
|
|
NM_000548.5(TSC2):c.3330C>G (p.Ala1110=)
|
rs1555510912
|
|
|
NM_000548.5(TSC2):c.3336G>T (p.Leu1112=)
|
rs1389714633
|
|
|
NM_000548.5(TSC2):c.3339G>A (p.Glu1113=)
|
rs1060504092
|
|
|
NM_000548.5(TSC2):c.3351G>A (p.Gly1117=)
|
rs1596386166
|
|
|
NM_000548.5(TSC2):c.3357G>A (p.Gln1119=)
|
rs1309073649
|
|
|
NM_000548.5(TSC2):c.3363C>G (p.Ser1121=)
|
rs1555510946
|
|
|
NM_000548.5(TSC2):c.3372C>T (p.Ala1124=)
|
rs1555510963
|
|
|
NM_000548.5(TSC2):c.3373C>A (p.Arg1125=)
|
rs747420910
|
|
|
NM_000548.5(TSC2):c.3381G>A (p.Arg1127=)
|
rs1596386421
|
|
|
NM_000548.5(TSC2):c.3387T>C (p.Arg1129=)
|
rs2544071369
|
|
|
NM_000548.5(TSC2):c.3399G>A (p.Gly1133=)
|
rs2151455530
|
|
|
NM_000548.5(TSC2):c.3411T>G (p.Leu1137=)
|
rs876660766
|
|
|
NM_000548.5(TSC2):c.3424C>T (p.Leu1142=)
|
rs1060504111
|
|
|
NM_000548.5(TSC2):c.3435G>T (p.Pro1145=)
|
rs749633483
|
|
|
NM_000548.5(TSC2):c.3448C>T (p.Leu1150=)
|
rs1060504121
|
|
|
NM_000548.5(TSC2):c.3450G>T (p.Leu1150=)
|
|
|
|
NM_000548.5(TSC2):c.3453C>T (p.Gly1151=)
|
rs1596389809
|
|
|
NM_000548.5(TSC2):c.3459C>G (p.Ala1153=)
|
rs1596389837
|
|
|
NM_000548.5(TSC2):c.3459C>T (p.Ala1153=)
|
rs1596389837
|
|
|
NM_000548.5(TSC2):c.3465T>A (p.Ser1155=)
|
rs747004487
|
|
|
NM_000548.5(TSC2):c.3471A>G (p.Gly1157=)
|
rs1192862238
|
|
|
NM_000548.5(TSC2):c.3486A>T (p.Pro1162=)
|
rs1277144134
|
|
|
NM_000548.5(TSC2):c.348G>A (p.Leu116=)
|
rs2151040222
|
|
|
NM_000548.5(TSC2):c.3490G>T (p.Ala1164Ser)
|
rs776579875
|
|
|
NM_000548.5(TSC2):c.3498T>C (p.Pro1166=)
|
rs2151458951
|
|
|
NM_000548.5(TSC2):c.3507C>G (p.Ala1169=)
|
|
|
|
NM_000548.5(TSC2):c.3516C>T (p.Gly1172=)
|
rs1555511474
|
|
|
NM_000548.5(TSC2):c.3519C>T (p.Thr1173=)
|
rs754306983
|
|
|
NM_000548.5(TSC2):c.351G>C (p.Gly117=)
|
rs1555497554
|
|
|
NM_000548.5(TSC2):c.3543G>C (p.Thr1181=)
|
rs139313964
|
|
|
NM_000548.5(TSC2):c.3546C>T (p.Asn1182=)
|
rs2151460683
|
|
|
NM_000548.5(TSC2):c.3549G>A (p.Leu1183=)
|
rs1596390611
|
|
|
NM_000548.5(TSC2):c.354C>T (p.Val118=)
|
rs762228318
|
|
|
NM_000548.5(TSC2):c.3552G>T (p.Ala1184=)
|
rs549427685
|
|
|
NM_000548.5(TSC2):c.3554C>T (p.Ala1185Val)
|
rs1057521812
|
|
|
NM_000548.5(TSC2):c.3555C>A (p.Ala1185=)
|
rs745762286
|
|
|
NM_000548.5(TSC2):c.3561G>A (p.Val1187=)
|
rs2151461210
|
|
|
NM_000548.5(TSC2):c.3564C>G (p.Pro1188=)
|
rs1253270588
|
|
|
NM_000548.5(TSC2):c.3565C>T (p.Leu1189=)
|
rs796053476
|
|
|
NM_000548.5(TSC2):c.357C>G (p.Leu119=)
|
rs1168763677
|
|
|
NM_000548.5(TSC2):c.357C>T (p.Leu119=)
|
rs1168763677
|
|
|
NM_000548.5(TSC2):c.3594G>C (p.Leu1198=)
|
rs202114637
|
|
|
NM_000548.5(TSC2):c.3611-11C>T
|
rs375617364
|
|
|
NM_000548.5(TSC2):c.3612G>C (p.Gly1204=)
|
rs1555512292
|
|
|
NM_000548.5(TSC2):c.3618C>A (p.Thr1206=)
|
rs1057522260
|
|
|
NM_000548.5(TSC2):c.3618C>G (p.Thr1206=)
|
rs1057522260
|
|
|
NM_000548.5(TSC2):c.3621C>T (p.Ser1207=)
|
rs2151480833
|
|
|
NM_000548.5(TSC2):c.3636G>A (p.Leu1212=)
|
rs778744545
|
|
|
NM_000548.5(TSC2):c.3642C>T (p.Asn1214=)
|
rs2151481160
|
|
|
NM_000548.5(TSC2):c.3645G>A (p.Pro1215=)
|
rs758114962
|
|
|
NM_000548.5(TSC2):c.3645G>T (p.Pro1215=)
|
rs758114962
|
|
|
NM_000548.5(TSC2):c.3648C>G (p.Leu1216=)
|
rs777246414
|
|
|
NM_000548.5(TSC2):c.3657C>T (p.Phe1219=)
|
rs1596399888
|
|
|
NM_000548.5(TSC2):c.3663G>C (p.Ser1221=)
|
rs137854268
|
|
|
NM_000548.5(TSC2):c.3669C>T (p.Ile1223=)
|
rs2151481655
|
|
|
NM_000548.5(TSC2):c.3681C>T (p.Pro1227=)
|
rs181279399
|
|
|
NM_000548.5(TSC2):c.3684G>A (p.Leu1228=)
|
rs185457522
|
|
|
NM_000548.5(TSC2):c.3691C>T (p.Leu1231=)
|
rs2544156361
|
|
|
NM_000548.5(TSC2):c.3729G>A (p.Glu1243=)
|
rs2151483009
|
|
|
NM_000548.5(TSC2):c.3732C>T (p.His1244=)
|
rs1264194267
|
|
|
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=)
|
rs777489742
|
|
|
NM_000548.5(TSC2):c.3744C>G (p.Ala1248=)
|
rs45517307
|
|
|
NM_000548.5(TSC2):c.3745C>T (p.Leu1249=)
|
rs1596400436
|
|
|
NM_000548.5(TSC2):c.3759G>A (p.Leu1253=)
|
rs878854095
|
|
|
NM_000548.5(TSC2):c.3786A>G (p.Lys1262=)
|
rs752513898
|
|
|
NM_000548.5(TSC2):c.3789C>G (p.Pro1263=)
|
rs2151484598
|
|
|
NM_000548.5(TSC2):c.3792T>C (p.Pro1264=)
|
rs763855971
|
|
|
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs)
|
rs796053505
|
|
|
NM_000548.5(TSC2):c.3804C>T (p.Arg1268=)
|
rs1358080651
|
|
|
NM_000548.5(TSC2):c.3807C>T (p.Ser1269=)
|
rs1596400911
|
|
|
NM_000548.5(TSC2):c.3815-15G>T
|
rs45480591
|
|
|
NM_000548.5(TSC2):c.381C>T (p.Ile127=)
|
rs2085502591
|
|
|
NM_000548.5(TSC2):c.3828C>T (p.Ser1276=)
|
rs773135685
|
|
|
NM_000548.5(TSC2):c.3837C>T (p.Tyr1279=)
|
rs1555512861
|
|
|
NM_000548.5(TSC2):c.3846C>T (p.Ser1282=)
|
rs1596404651
|
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
|
NM_000548.5(TSC2):c.384G>A (p.Lys128=)
|
rs748095129
|
|
|
NM_000548.5(TSC2):c.385G>T (p.Asp129Tyr)
|
rs771961048
|
|
|
NM_000548.5(TSC2):c.3861G>C (p.Leu1287=)
|
rs2151493248
|
|
|
NM_000548.5(TSC2):c.3876C>A (p.Ser1292=)
|
rs1173548095
|
|
|
NM_000548.5(TSC2):c.3876C>T (p.Ser1292=)
|
rs1173548095
|
|
|
NM_000548.5(TSC2):c.3884-17C>G
|
rs45517317
|
|
|
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=)
|
rs373508609
|
|
|
NM_000548.5(TSC2):c.3903G>A (p.Glu1301=)
|
rs1429956058
|
|
|
NM_000548.5(TSC2):c.3906G>A (p.Glu1302=)
|
rs2151510679
|
|
|
NM_000548.5(TSC2):c.3915G>C (p.Pro1305=)
|
rs11551373
|
|
|
NM_000548.5(TSC2):c.3924T>G (p.Val1308=)
|
rs878854097
|
|
|
NM_000548.5(TSC2):c.3936G>A (p.Val1312=)
|
rs876659932
|
|
|
NM_000548.5(TSC2):c.3939G>A (p.Glu1313=)
|
rs149340262
|
|
|
NM_000548.5(TSC2):c.3945A>G (p.Pro1315=)
|
rs1811018177
|
|
|
NM_000548.5(TSC2):c.3948G>A (p.Gly1316=)
|
rs763278787
|
|
|
NM_000548.5(TSC2):c.3954G>A (p.Glu1318=)
|
rs1165479631
|
|
|
NM_000548.5(TSC2):c.3963G>A (p.Glu1321=)
|
rs587778737
|
|
|
NM_000548.5(TSC2):c.3967G>A (p.Ala1323Thr)
|
rs1248093496
|
|
|
NM_000548.5(TSC2):c.3969G>T (p.Ala1323=)
|
rs749057825
|
|
|
NM_000548.5(TSC2):c.3970C>T (p.Leu1324=)
|
rs549060036
|
|
|
NM_000548.5(TSC2):c.3990G>T (p.Thr1330=)
|
rs369943684
|
|
|
NM_000548.5(TSC2):c.3996C>A (p.Ala1332=)
|
rs1421997373
|
|
|
NM_000548.5(TSC2):c.3996C>G (p.Ala1332=)
|
|
|
|
NM_000548.5(TSC2):c.4002C>T (p.Ser1334=)
|
rs1060500911
|
|
|
NM_000548.5(TSC2):c.4005+7G>A
|
rs2151514474
|
|
|
NM_000548.5(TSC2):c.4011C>T (p.Ser1337=)
|
rs2544254073
|
|
|
NM_000548.5(TSC2):c.4020C>T (p.Ser1340=)
|
rs1596415292
|
|
|
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del)
|
rs878854100
|
|
|
NM_000548.5(TSC2):c.4029G>A (p.Glu1343=)
|
rs752502287
|
|
|
NM_000548.5(TSC2):c.4029G>C (p.Glu1343Asp)
|
rs752502287
|
|
|
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=)
|
rs1060504109
|
|
|
NM_000548.5(TSC2):c.4050G>A (p.Glu1350=)
|
rs2090485089
|
|
|
NM_000548.5(TSC2):c.4056G>A (p.Leu1352=)
|
rs772309833
|
|
|
NM_000548.5(TSC2):c.4056G>C (p.Leu1352=)
|
rs772309833
|
|
|
NM_000548.5(TSC2):c.405C>T (p.Asp135=)
|
rs1005115266
|
|
|
NM_000548.5(TSC2):c.4062C>T (p.Gly1354=)
|
rs2151521887
|
|
|
NM_000548.5(TSC2):c.4065G>A (p.Arg1355=)
|
rs2151521953
|
|
|
NM_000548.5(TSC2):c.4077C>A (p.Ile1359=)
|
|
|
|
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile)
|
rs751203255
|
|
|
NM_000548.5(TSC2):c.4089C>T (p.Val1363=)
|
rs1036544111
|
|
|
NM_000548.5(TSC2):c.4095G>C (p.Ser1365=)
|
rs139630605
|
|
|
NM_000548.5(TSC2):c.4105C>A (p.Arg1369=)
|
rs45517328
|
|
|
NM_000548.5(TSC2):c.4110C>T (p.Pro1370=)
|
rs771107874
|
|
|
NM_000548.5(TSC2):c.4122C>G (p.Leu1374=)
|
rs2544261338
|
|
|
NM_000548.5(TSC2):c.4125C>G (p.Ser1375=)
|
rs1050512482
|
|
|
NM_000548.5(TSC2):c.4128C>T (p.Phe1376=)
|
rs1060504086
|
|
|
NM_000548.5(TSC2):c.4134C>T (p.Pro1378=)
|
rs1060504081
|
|
|
NM_000548.5(TSC2):c.4137G>T (p.Ser1379=)
|
rs769653533
|
|
|
NM_000548.5(TSC2):c.4143C>T (p.Pro1381=)
|
rs1555514056
|
|
|
NM_000548.5(TSC2):c.414A>G (p.Glu138=)
|
|
|
|
NM_000548.5(TSC2):c.4152G>A (p.Lys1384=)
|
rs2151525029
|
|
|
NM_000548.5(TSC2):c.4155C>T (p.Ser1385=)
|
rs1057521540
|
|
|
NM_000548.5(TSC2):c.4161C>A (p.Ser1387=)
|
rs985829355
|
|
|
NM_000548.5(TSC2):c.4167C>A (p.Pro1389=)
|
rs45508504
|
|
|
NM_000548.5(TSC2):c.4173G>A (p.Leu1391=)
|
rs2151525915
|
|
|
NM_000548.5(TSC2):c.418C>T (p.Leu140=)
|
rs1555497657
|
|
|
NM_000548.5(TSC2):c.4203T>C (p.Pro1401=)
|
rs893072428
|
|
|
NM_000548.5(TSC2):c.420G>A (p.Leu140=)
|
rs876660078
|
|
|
NM_000548.5(TSC2):c.4212G>A (p.Lys1404=)
|
rs2090506660
|
|
|
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn)
|
rs147719291
|
|
|
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr)
|
rs147719291
|
|
|
NM_000548.5(TSC2):c.4227G>T (p.Arg1409=)
|
rs1555514188
|
|
|
NM_000548.5(TSC2):c.4233C>T (p.Ser1411=)
|
rs1060504090
|
|
|
NM_000548.5(TSC2):c.4239G>A (p.Glu1413=)
|
rs907082165
|
|
|
NM_000548.5(TSC2):c.423G>A (p.Glu141=)
|
rs2151042934
|
|
|
NM_000548.5(TSC2):c.4248C>A (p.Ala1416=)
|
rs1393358018
|
|
|
NM_000548.5(TSC2):c.4248C>G (p.Ala1416=)
|
rs1393358018
|
|
|
NM_000548.5(TSC2):c.4251G>A (p.Arg1417=)
|
rs1455362130
|
|
|
NM_000548.5(TSC2):c.4257G>A (p.Gln1419=)
|
rs1403321543
|
|
|
NM_000548.5(TSC2):c.4260A>C (p.Ser1420=)
|
rs1285012780
|
|
|
NM_000548.5(TSC2):c.4266C>T (p.Thr1422=)
|
rs2090513817
|
|
|
NM_000548.5(TSC2):c.4273G>C (p.Gly1425Arg)
|
rs763497329
|
|
|
NM_000548.5(TSC2):c.4287C>T (p.Ala1429=)
|
rs2151531120
|
|
|
NM_000548.5(TSC2):c.42G>A (p.Lys14=)
|
rs2548348958
|
|
|
NM_000548.5(TSC2):c.4302C>G (p.Gly1434=)
|
rs137854000
|
|
|
NM_000548.5(TSC2):c.4308C>T (p.Asp1436=)
|
rs45517336
|
|
|
NM_000548.5(TSC2):c.4314G>A (p.Arg1438=)
|
rs1240764768
|
|
|
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser)
|
rs201710642
|
|
|
NM_000548.5(TSC2):c.4341C>T (p.Ser1447=)
|
rs1060504117
|
|
|
NM_000548.5(TSC2):c.4347C>T (p.Ser1449=)
|
rs2151533587
|
|
|
NM_000548.5(TSC2):c.4350C>A (p.Pro1450=)
|
rs767996683
|
|
|
NM_000548.5(TSC2):c.4350C>T (p.Pro1450=)
|
rs767996683
|
|
|
NM_000548.5(TSC2):c.435C>T (p.Ala145=)
|
rs762200040
|
|
|
NM_000548.5(TSC2):c.4365C>T (p.Gly1455=)
|
rs2090527409
|
|
|
NM_000548.5(TSC2):c.4368C>G (p.Leu1456=)
|
rs1555514397
|
|
|
NM_000548.5(TSC2):c.4368C>T (p.Leu1456=)
|
rs1555514397
|
|
|
NM_000548.5(TSC2):c.4375C>A (p.Arg1459=)
|
rs45517340
|
|
|
NM_000548.5(TSC2):c.4380T>G (p.Gly1460=)
|
rs2151534821
|
|
|
NM_000548.5(TSC2):c.4386C>T (p.Thr1462=)
|
rs2151534904
|
|
|
NM_000548.5(TSC2):c.4395C>T (p.Asp1465=)
|
rs2151535121
|
|
|
NM_000548.5(TSC2):c.4401C>A (p.Ala1467=)
|
rs370735624
|
|
|
NM_000548.5(TSC2):c.4420A>C (p.Arg1474=)
|
rs766719443
|
|
|
NM_000548.5(TSC2):c.4431G>A (p.Arg1477=)
|
rs76934857
|
|
|
NM_000548.5(TSC2):c.4437C>T (p.Ala1479=)
|
rs2151536553
|
|
|
NM_000548.5(TSC2):c.4452C>T (p.Ala1484=)
|
rs1555514573
|
|
|
NM_000548.5(TSC2):c.4455A>G (p.Thr1485=)
|
rs1555514579
|
|
|
NM_000548.5(TSC2):c.4461C>G (p.Ser1487=)
|
rs777104003
|
|
|
NM_000548.5(TSC2):c.4473A>G (p.Lys1491=)
|
rs1266546987
|
|
|
NM_000548.5(TSC2):c.4476G>A (p.Val1492=)
|
rs1596418854
|
|
|
NM_000548.5(TSC2):c.4494-12dup
|
rs2090575419
|
|
|
NM_000548.5(TSC2):c.4506G>A (p.Leu1502=)
|
rs1555514870
|
|
|
NM_000548.5(TSC2):c.4506G>C (p.Leu1502=)
|
rs1555514870
|
|
|
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)
|
rs45516293
|
|
|
NM_000548.5(TSC2):c.4509G>A (p.Gln1503=)
|
rs45517349
|
|
|
NM_000548.5(TSC2):c.4524C>A (p.Pro1508=)
|
rs1596422510
|
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
|
NM_000548.5(TSC2):c.4530T>C (p.Phe1510=)
|
rs763126313
|
|
|
NM_000548.5(TSC2):c.453A>G (p.Arg151=)
|
rs2151043990
|
|
|
NM_000548.5(TSC2):c.4557G>T (p.Leu1519=)
|
rs1260508226
|
|
|
NM_000548.5(TSC2):c.4560G>A (p.Leu1520=)
|
rs1596423200
|
|
|
NM_000548.5(TSC2):c.4560G>T (p.Leu1520=)
|
rs1596423200
|
|
|
NM_000548.5(TSC2):c.4563C>T (p.Pro1521=)
|
rs989650743
|
|
|
NM_000548.5(TSC2):c.4569+2T>C
|
rs1555514984
|
|
|
NM_000548.5(TSC2):c.4575G>A (p.Gln1525=)
|
rs1596426497
|
|
|
NM_000548.5(TSC2):c.4587G>A (p.Arg1529=)
|
rs2151550637
|
|
|
NM_000548.5(TSC2):c.4605C>T (p.Asp1535=)
|
rs1555515283
|
|
|
NM_000548.5(TSC2):c.4623C>T (p.Asp1541=)
|
rs1555515315
|
|
|
NM_000548.5(TSC2):c.4635C>A (p.Ile1545=)
|
rs757388437
|
|
|
NM_000548.5(TSC2):c.4641C>T (p.Val1547=)
|
rs1060504087
|
|
|
NM_000548.5(TSC2):c.4642C>T (p.Leu1548=)
|
rs769883910
|
|
|
NM_000548.5(TSC2):c.4644G>T (p.Leu1548=)
|
rs780071959
|
|
|
NM_000548.5(TSC2):c.4647T>C (p.Tyr1549=)
|
rs397515028
|
|
|
NM_000548.5(TSC2):c.4650T>C (p.Val1550=)
|
rs1555515367
|
|
|
NM_000548.5(TSC2):c.4656A>G (p.Glu1552=)
|
rs878854110
|
|
|
NM_000548.5(TSC2):c.4662+7C>G
|
rs1555515435
|
|
|
NM_000548.5(TSC2):c.4663-12dup
|
rs2544364887
|
|
|
NM_000548.5(TSC2):c.4668C>T (p.Asn1556=)
|
rs2151569345
|
|
|
NM_000548.5(TSC2):c.466T>C (p.Leu156=)
|
rs2151044466
|
|
|
NM_000548.5(TSC2):c.4674G>A (p.Glu1558=)
|
rs2151569595
|
|
|
NM_000548.5(TSC2):c.4684C>T (p.Leu1562=)
|
rs1057523304
|
|
|
NM_000548.5(TSC2):c.4686G>A (p.Leu1562=)
|
rs780703883
|
|
|
NM_000548.5(TSC2):c.4689C>A (p.Ser1563=)
|
rs45517363
|
|
|
NM_000548.5(TSC2):c.4701C>G (p.Gly1567=)
|
rs763804965
|
|
|
NM_000548.5(TSC2):c.4701C>T (p.Gly1567=)
|
rs763804965
|
|
|
NM_000548.5(TSC2):c.4710G>A (p.Arg1570=)
|
rs1389060581
|
|
|
NM_000548.5(TSC2):c.4713C>T (p.Tyr1571=)
|
rs45517366
|
|
|
NM_000548.5(TSC2):c.4716G>T (p.Thr1572=)
|
rs369346726
|
|
|
NM_000548.5(TSC2):c.4723C>T (p.Leu1575=)
|
rs2151571611
|
|
|
NM_000548.5(TSC2):c.4725G>C (p.Leu1575=)
|
rs1308764758
|
|
|
NM_000548.5(TSC2):c.4728G>C (p.Thr1576=)
|
rs752642825
|
|
|
NM_000548.5(TSC2):c.4743C>T (p.Leu1581=)
|
rs2544373777
|
|
|
NM_000548.5(TSC2):c.4749G>A (p.Glu1583=)
|
rs1257270850
|
|
|
NM_000548.5(TSC2):c.474A>G (p.Glu158=)
|
rs2151044701
|
|
|
NM_000548.5(TSC2):c.4750C>T (p.Leu1584=)
|
rs2151572888
|
|
|
NM_000548.5(TSC2):c.4752G>A (p.Leu1584=)
|
rs1555516171
|
|
|
NM_000548.5(TSC2):c.4758C>T (p.Asp1586=)
|
rs1366814192
|
|
|
NM_000548.5(TSC2):c.4770C>T (p.Asp1590=)
|
rs1596439135
|
|
|
NM_000548.5(TSC2):c.4780C>T (p.Leu1594=)
|
rs45511204
|
|
|
NM_000548.5(TSC2):c.4788C>G (p.Gly1596=)
|
rs1596439233
|
|
|
NM_000548.5(TSC2):c.4788C>T (p.Gly1596=)
|
rs1596439233
|
|
|
NM_000548.5(TSC2):c.4812C>T (p.Gly1604=)
|
rs397515103
|
|
|
NM_000548.5(TSC2):c.4836T>C (p.Asp1612=)
|
rs2151576368
|
|
|
NM_000548.5(TSC2):c.4854C>G (p.Val1618=)
|
rs45517378
|
|
|
NM_000548.5(TSC2):c.4857C>T (p.Phe1619=)
|
rs1596443022
|
|
|
NM_000548.5(TSC2):c.4866C>T (p.Ala1622=)
|
rs775723717
|
|
|
NM_000548.5(TSC2):c.4869C>G (p.Thr1623=)
|
rs150239180
|
|
|
NM_000548.5(TSC2):c.4870C>T (p.Leu1624=)
|
rs786203263
|
|
|
NM_000548.5(TSC2):c.4872G>A (p.Leu1624=)
|
rs2151584763
|
|
|
NM_000548.5(TSC2):c.4884G>A (p.Lys1628=)
|
rs2090853639
|
|
|
NM_000548.5(TSC2):c.4920C>T (p.His1640=)
|
rs1555438576
|
|
|
NM_000548.5(TSC2):c.4974G>A (p.Lys1658=)
|
rs45511393
|
|
|
NM_000548.5(TSC2):c.4989+6dup
|
rs2151590002
|
|
|
NM_000548.5(TSC2):c.4990-5G>T
|
rs753000765
|
|
|
NM_000548.5(TSC2):c.4992C>T (p.Gly1664=)
|
rs145002269
|
|
|
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=)
|
rs551938797
|
|
|
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu)
|
rs45490993
|
|
|
NM_000548.5(TSC2):c.5019C>T (p.Val1673=)
|
rs374149407
|
|
|
NM_000548.5(TSC2):c.5022C>G (p.Thr1674=)
|
rs777184691
|
|
|
NM_000548.5(TSC2):c.5044C>T (p.Leu1682=)
|
rs1336904838
|
|
|
NM_000548.5(TSC2):c.5046G>A (p.Leu1682=)
|
rs781417654
|
|
|
NM_000548.5(TSC2):c.5049G>A (p.Val1683=)
|
rs1256890176
|
|
|
NM_000548.5(TSC2):c.5052C>T (p.Ser1684=)
|
rs1596455470
|
|
|
NM_000548.5(TSC2):c.5069-10G>A
|
rs1409032179
|
|
|
NM_000548.5(TSC2):c.5069-11A>C
|
rs562381623
|
|
|
NM_000548.5(TSC2):c.5082T>C (p.Leu1694=)
|
rs2151620148
|
|
|
NM_000548.5(TSC2):c.5085G>A (p.Val1695=)
|
rs2151620310
|
|
|
NM_000548.5(TSC2):c.5100C>T (p.Ala1700=)
|
rs1172938826
|
|
|
NM_000548.5(TSC2):c.5103G>A (p.Lys1701=)
|
rs768476974
|
|
|
NM_000548.5(TSC2):c.5109G>C (p.Val1703=)
|
rs770413433
|
|
|
NM_000548.5(TSC2):c.5121C>T (p.Asn1707=)
|
rs2151621840
|
|
|
NM_000548.5(TSC2):c.5124G>A (p.Leu1708=)
|
rs2151622005
|
|
|
NM_000548.5(TSC2):c.5148C>T (p.Ala1716=)
|
rs45482604
|
|
|
NM_000548.5(TSC2):c.5160+3G>A
|
rs45517401
|
|
|
NM_000548.5(TSC2):c.5169A>G (p.Ser1723=)
|
rs1567131059
|
|
|
NM_000548.5(TSC2):c.5187C>G (p.Arg1729=)
|
rs2091133958
|
|
|
NM_000548.5(TSC2):c.5187C>T (p.Arg1729=)
|
rs2091133958
|
|
|
NM_000548.5(TSC2):c.5211C>T (p.Pro1737=)
|
rs151298910
|
|
|
NM_000548.5(TSC2):c.5214C>G (p.Ser1738=)
|
rs761621735
|
|
|
NM_000548.5(TSC2):c.5226C>G (p.Ala1742=)
|
rs2091144761
|
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
rs45507199
|
|
|
NM_000548.5(TSC2):c.522G>A (p.Ser174=)
|
rs2085660429
|
|
|
NM_000548.5(TSC2):c.5232C>G (p.Leu1744=)
|
rs772865175
|
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
|
NM_000548.5(TSC2):c.5241C>A (p.Ile1747=)
|
rs2151632082
|
|
|
NM_000548.5(TSC2):c.5241C>T (p.Ile1747=)
|
|
|
|
NM_000548.5(TSC2):c.5247G>A (p.Arg1749=)
|
rs2151632398
|
|
|
NM_000548.5(TSC2):c.5250C>A (p.Leu1750=)
|
rs370353005
|
|
|
NM_000548.5(TSC2):c.5250C>T (p.Leu1750=)
|
rs370353005
|
|
|
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)
|
rs45517414
|
|
|
NM_000548.5(TSC2):c.5262C>A (p.Ile1754=)
|
rs397515318
|
|
|
NM_000548.5(TSC2):c.5277C>G (p.Ala1759=)
|
rs2151638252
|
|
|
NM_000548.5(TSC2):c.5277C>T (p.Ala1759=)
|
rs2151638252
|
|
|
NM_000548.5(TSC2):c.5283C>T (p.Ser1761=)
|
rs747002312
|
|
|
NM_000548.5(TSC2):c.5293C>T (p.Leu1765=)
|
rs1060500954
|
|
|
NM_000548.5(TSC2):c.5299C>T (p.Leu1767=)
|
rs1051758
|
|
|
NM_000548.5(TSC2):c.5301G>A (p.Leu1767=)
|
rs886051798
|
|
|
NM_000548.5(TSC2):c.5316C>G (p.Ser1772=)
|
rs2151639594
|
|
|
NM_000548.5(TSC2):c.5322C>T (p.Ser1774=)
|
rs751622894
|
|
|
NM_000548.5(TSC2):c.5349G>A (p.Glu1783=)
|
rs2151640927
|
|
|
NM_000548.5(TSC2):c.5352C>A (p.Pro1784=)
|
rs1367848310
|
|
|
NM_000548.5(TSC2):c.5352C>T (p.Pro1784=)
|
rs1367848310
|
|
|
NM_000548.5(TSC2):c.5355A>G (p.Thr1785=)
|
rs1057522896
|
|
|
NM_000548.5(TSC2):c.5361C>A (p.Gly1787=)
|
rs1334165353
|
|
|
NM_000548.5(TSC2):c.5361C>T (p.Gly1787=)
|
rs1334165353
|
|
|
NM_000548.5(TSC2):c.5370G>A (p.Val1790=)
|
rs762032752
|
|
|
NM_000548.5(TSC2):c.5373C>G (p.Gly1791=)
|
rs1555441528
|
|
|
NM_000548.5(TSC2):c.5388C>T (p.Leu1796=)
|
rs1412229429
|
|
|
NM_000548.5(TSC2):c.5391C>T (p.Ile1797=)
|
rs571792728
|
|
|
NM_000548.5(TSC2):c.5394C>T (p.Ser1798=)
|
rs2151642575
|
|
|
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=)
|
rs1051771
|
|
|
NM_000548.5(TSC2):c.5397G>T (p.Ser1799=)
|
rs1051771
|
|
|
NM_000548.5(TSC2):c.5403G>A (p.Glu1801=)
|
rs1060500918
|
|
|
NM_000548.5(TSC2):c.540G>A (p.Leu180=)
|
rs1567403619
|
|
|
NM_000548.5(TSC2):c.5412C>A (p.Thr1804=)
|
rs397515252
|
|
|
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys)
|
rs376017665
|
|
|
NM_000548.5(TSC2):c.5417_5418del (p.Phe1806fs)
|
rs2544521795
|
|
|
NM_000548.5(TSC2):c.5421G>A (p.Val1807=)
|
rs1596464773
|
|
|
NM_000548.5(TSC2):c.546C>T (p.Asn182=)
|
rs2085665682
|
|
|
NM_000548.5(TSC2):c.54G>C (p.Leu18=)
|
rs2150971145
|
|
|
NM_000548.5(TSC2):c.552C>G (p.Val184=)
|
rs199991910
|
|
|
NM_000548.5(TSC2):c.561T>C (p.Asn187=)
|
rs2151060729
|
|
|
NM_000548.5(TSC2):c.570C>T (p.Tyr190=)
|
rs397515099
|
|
|
NM_000548.5(TSC2):c.573C>G (p.Leu191=)
|
rs397515059
|
|
|
NM_000548.5(TSC2):c.599+9A>G
|
rs2548437341
|
|
|
NM_000548.5(TSC2):c.609T>C (p.Cys203=)
|
rs1596275256
|
|
|
NM_000548.5(TSC2):c.60A>C (p.Gly20=)
|
rs1060504108
|
|
|
NM_000548.5(TSC2):c.610C>T (p.Leu204=)
|
rs1439997904
|
|
|
NM_000548.5(TSC2):c.613C>T (p.Leu205=)
|
rs1596275276
|
|
|
NM_000548.5(TSC2):c.615G>A (p.Leu205=)
|
rs1596275291
|
|
|
NM_000548.5(TSC2):c.615G>C (p.Leu205=)
|
rs1596275291
|
|
|
NM_000548.5(TSC2):c.622C>A (p.Arg208=)
|
rs374410454
|
|
|
NM_000548.5(TSC2):c.624G>A (p.Arg208=)
|
rs2085792359
|
|
|
NM_000548.5(TSC2):c.630G>C (p.Ala210=)
|
rs567756494
|
|
|
NM_000548.5(TSC2):c.633C>G (p.Ser211=)
|
rs762659998
|
|
|
NM_000548.5(TSC2):c.633C>T (p.Ser211=)
|
rs762659998
|
|
|
NM_000548.5(TSC2):c.636T>C (p.Ser212=)
|
rs2151071330
|
|
|
NM_000548.5(TSC2):c.648+9C>T
|
rs756588732
|
|
|
NM_000548.5(TSC2):c.651C>T (p.Val217=)
|
rs780004703
|
|
|
NM_000548.5(TSC2):c.664C>T (p.Leu222=)
|
rs2151077923
|
|
|
NM_000548.5(TSC2):c.666G>A (p.Leu222=)
|
rs761351907
|
|
|
NM_000548.5(TSC2):c.675G>A (p.Val225=)
|
rs2085881355
|
|
|
NM_000548.5(TSC2):c.678C>T (p.Val226=)
|
rs2151078413
|
|
|
NM_000548.5(TSC2):c.684C>T (p.Tyr228=)
|
rs397515034
|
|
|
NM_000548.5(TSC2):c.699T>C (p.Ala233=)
|
rs1596278327
|
|
|
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys)
|
rs778544723
|
|
|
NM_000548.5(TSC2):c.717C>T (p.Phe239=)
|
rs1567408727
|
|
|
NM_000548.5(TSC2):c.729C>T (p.Leu243=)
|
rs45473698
|
|
|
NM_000548.5(TSC2):c.741C>T (p.Ile247=)
|
rs2151080723
|
|
|
NM_000548.5(TSC2):c.756C>T (p.Leu252=)
|
rs1026303888
|
|
|
NM_000548.5(TSC2):c.75G>A (p.Arg25=)
|
rs2150971828
|
|
|
NM_000548.5(TSC2):c.802C>T (p.Leu268=)
|
rs1396943042
|
|
|
NM_000548.5(TSC2):c.810C>T (p.His270=)
|
rs1596280678
|
|
|
NM_000548.5(TSC2):c.816C>G (p.Ala272=)
|
rs917246659
|
|
|
NM_000548.5(TSC2):c.849-3T>C
|
rs45489591
|
|
|
NM_000548.5(TSC2):c.852C>T (p.Ala284=)
|
rs1555499631
|
|
|
NM_000548.5(TSC2):c.861G>A (p.Glu287=)
|
rs192567788
|
|
|
NM_000548.5(TSC2):c.867G>T (p.Ala289=)
|
rs375163125
|
|
|
NM_000548.5(TSC2):c.870C>T (p.Pro290=)
|
rs1166082765
|
|
|
NM_000548.5(TSC2):c.87G>A (p.Arg29=)
|
rs1010489256
|
|
|
NM_000548.5(TSC2):c.909C>T (p.Leu303=)
|
rs1433197017
|
|
|
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)
|
rs397515108
|
|
|
NM_000548.5(TSC2):c.918C>T (p.Ala306=)
|
rs2151107825
|
|
|
NM_000548.5(TSC2):c.924G>T (p.Arg308=)
|
|
|
|
NM_000548.5(TSC2):c.933T>G (p.Ser311=)
|
rs1596289005
|
|
|
NM_000548.5(TSC2):c.936C>G (p.Leu312=)
|
rs2086239603
|
|
|
NM_000548.5(TSC2):c.936C>T (p.Leu312=)
|
rs2086239603
|
|
|
NM_000548.5(TSC2):c.954T>C (p.Ser318=)
|
rs1328588034
|
|
|
NM_000548.5(TSC2):c.957G>A (p.Val319=)
|
|
|
|
NM_000548.5(TSC2):c.966A>C (p.Ser322=)
|
rs1236668149
|
|
|
NM_000548.5(TSC2):c.972C>T (p.Tyr324=)
|
rs45517143
|
|
|
NM_000548.5(TSC2):c.976-3del
|
rs2151134253
|
|
|
NM_000548.5(TSC2):c.984A>C (p.Ala328=)
|
rs2548519531
|
|
|
NM_000548.5(TSC2):c.999G>A (p.Val333=)
|
rs746177025
|
|
|
NM_000551.4(VHL):c.*1_*3del (p.Ter214=)
|
rs1286603999
|
|
|
NM_000551.4(VHL):c.-10C>G
|
|
|
|
NM_000551.4(VHL):c.-11T>C
|
|
|
|
NM_000551.4(VHL):c.-13G>C
|
rs1057522448
|
|
|
NM_000551.4(VHL):c.120G>A (p.Pro40=)
|
rs1189123803
|
|
|
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1])
|
rs863224839
|
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
|
NM_000551.4(VHL):c.180G>A (p.Arg60=)
|
rs1224891387
|
|
|
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)
|
rs5030802
|
|
|
NM_000551.4(VHL):c.21C>T (p.Asn7=)
|
rs1060503561
|
|
|
NM_000551.4(VHL):c.240T>C (p.Ser80=)
|
rs1553619424
|
|
|
NM_000551.4(VHL):c.267C>T (p.Leu89=)
|
rs755794553
|
|
|
NM_000551.4(VHL):c.276C>T (p.Asp92=)
|
rs1442093467
|
|
|
NM_000551.4(VHL):c.27C>T (p.Asp9=)
|
rs1017141110
|
|
|
NM_000551.4(VHL):c.291C>T (p.Pro97=)
|
rs1805159
|
|
|
NM_000551.4(VHL):c.311G>T (p.Gly104Val)
|
rs869025630
|
|
|
NM_000551.4(VHL):c.330C>T (p.His110=)
|
rs1696140667
|
|
|
NM_000551.4(VHL):c.334T>C (p.Tyr112His)
|
rs104893824
|
|
|
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys)
|
rs869025633
|
|
|
NM_000551.4(VHL):c.340+7del
|
rs1575922613
|
|
|
NM_000551.4(VHL):c.341-4A>T
|
rs1559428033
|
|
|
NM_000551.4(VHL):c.341-5G>A
|
rs372340900
|
|
|
NM_000551.4(VHL):c.345C>T (p.His115=)
|
rs864622646
|
|
|
NM_000551.4(VHL):c.366A>C (p.Ala122=)
|
rs1474241640
|
|
|
NM_000551.4(VHL):c.366A>G (p.Ala122=)
|
rs1474241640
|
|
|
NM_000551.4(VHL):c.378T>C (p.Asp126=)
|
|
|
|
NM_000551.4(VHL):c.385C>G (p.Leu129Val)
|
rs369018004
|
|
|
NM_000551.4(VHL):c.3G>A (p.Met1Ile)
|
rs578091032
|
|
|
NM_000551.4(VHL):c.3G>T (p.Met1Ile)
|
rs578091032
|
|
|
NM_000551.4(VHL):c.432A>G (p.Gly144=)
|
rs1575928044
|
|
|
NM_000551.4(VHL):c.459G>T (p.Leu153=)
|
rs1382653522
|
|
|
NM_000551.4(VHL):c.45G>A (p.Ala15=)
|
rs563813895
|
|
|
NM_000551.4(VHL):c.463+5T>G
|
rs1003364563
|
|
|
NM_000551.4(VHL):c.489C>G (p.Leu163=)
|
rs1575932067
|
|
|
NM_000551.4(VHL):c.519G>A (p.Glu173=)
|
rs1696359154
|
|
|
NM_000551.4(VHL):c.525C>T (p.Tyr175=)
|
rs5030835
|
|
|
NM_000551.4(VHL):c.549G>T (p.Ser183=)
|
rs193922614
|
|
|
NM_000551.4(VHL):c.576A>C (p.Pro192=)
|
rs1372952726
|
|
|
NM_000551.4(VHL):c.613C>T (p.Arg205Cys)
|
rs199926195
|
|
|
NM_000551.4(VHL):c.66G>A (p.Glu22=)
|
rs768452685
|
|
|
NM_000551.4(VHL):c.72C>A (p.Gly24=)
|
rs1375079282
|
|
|
NM_000551.4(VHL):c.72C>T (p.Gly24=)
|
rs1375079282
|
|
|
NM_000551.4(VHL):c.87C>T (p.Gly29=)
|
rs987301475
|
|
|
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter)
|
rs1651872905
|
|
|
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter)
|
rs1651881949
|
|
|
NM_000642.3(AGL):c.18_19del (p.Gln6fs)
|
rs113994127
|
|
|
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
|
rs2524647813
|
|
|
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter)
|
rs1652877420
|
|
|
NM_000642.3(AGL):c.294-2A>T
|
rs1057516868
|
|
|
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)
|
rs1650125542
|
|
|
NM_000709.4(BCKDHA):c.1167+1del
|
rs1555767169
|
|
|
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)
|
rs755691417
|
|
|
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
|
rs2513452174
|
|
|
NM_000709.4(BCKDHA):c.655del (p.Ala219fs)
|
rs2513459631
|
|
|
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)
|
rs1303770209
|
|
|
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)
|
rs764247545
|
|
|
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)
|
rs1943689766
|
|
|
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)
|
rs1943690848
|
|
|
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)
|
rs1943736070
|
|
|
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)
|
rs1943741125
|
|
|
NM_000785.4(CYP27B1):c.335C>T (p.Pro112Leu)
|
rs1024923221
|
|
|
NM_001040108.2(MLH3):c.1301dup (p.Asn434fs)
|
rs1212794587
|
|
|
NM_001040108.2(MLH3):c.1755dup (p.Glu586fs)
|
rs751465048
|
|
|
NM_001040108.2(MLH3):c.2021dup (p.Asn674fs)
|
rs767782578
|
|
|
NM_001040108.2(MLH3):c.2482G>T (p.Glu828Ter)
|
rs587776622
|
|
|
NM_001040108.2(MLH3):c.2937del (p.Thr980fs)
|
rs758226404
|
|
|
NM_001040108.2(MLH3):c.3132G>A (p.Trp1044Ter)
|
rs772314175
|
|
|
NM_001040108.2(MLH3):c.3154del (p.Leu1052fs)
|
rs745657036
|
|
|
NM_001040108.2(MLH3):c.615del (p.Asp206fs)
|
rs746171271
|
|
|
NM_001040108.2(MLH3):c.885del (p.His296fs)
|
rs1431264077
|
|
|
NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter)
|
rs2506482028
|
|
|
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg)
|
rs199474737
|
|
|
NM_001042492.3(NF1):c.1845G>A (p.Lys615=)
|
rs1131691080
|
|
|
NM_001042492.3(NF1):c.2251+1G>C
|
rs1555613843
|
|
|
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
|
rs267606607
|
|
|
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)
|
rs1135402888
|
|
|
NM_001048174.2(MUTYH):c.1269dup (p.Thr424fs)
|
rs2523923671
|
|
|
NM_001048174.2(MUTYH):c.323T>C (p.Met108Thr)
|
rs770153763
|
|
|
NM_001048174.2(MUTYH):c.460C>G (p.Arg154Gly)
|
rs747993448
|
|
|
NM_001048174.2(MUTYH):c.849A>G (p.Arg283=)
|
rs369973885
|
|
|
NM_001048174.2(MUTYH):c.940_962del (p.Cys314fs)
|
rs1553126848
|
|
|
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)
|
rs758992291
|
|
|
NM_001142800.1(EYS):c.1057del
|
|
|
|
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs)
|
rs1455826633
|
|
|
NM_001142800.2(EYS):c.5868del (p.Phe1956fs)
|
|
|
|
NM_001142800.2(EYS):c.6192-1G>A
|
rs570020451
|
|
|
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs)
|
rs2149802267
|
|
|
NM_001142800.2(EYS):c.8830del (p.Val2944fs)
|
rs776526721
|
|
|
NM_001142800.2(EYS):c.9177_9180del (p.Ala3058_Tyr3059insTer)
|
rs1162806402
|
|
|
NM_001164508.2(NEB):c.126T>A (p.Tyr42Ter)
|
rs2552280353
|
|
|
NM_001164508.2(NEB):c.22511del (p.Lys7504fs)
|
rs2080623161
|
|
|
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
|
rs2552076658
|
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
|
NM_001164508.2(NEB):c.3255+1G>C
|
rs375628303
|
|
|
NM_001164508.2(NEB):c.3843del (p.Leu1282fs)
|
rs2154199737
|
|
|
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter)
|
rs2154175437
|
|
|
NM_001164508.2(NEB):c.5343+5G>A
|
rs2154175371
|
|
|
NM_001201543.2(FAM161A):c.1525_1530delinsCCCG (p.Cys509fs)
|
rs2466022357
|
|
|
NM_001276270.2(MBD4):c.942_945del (p.Glu314fs)
|
rs758351838
|
|
|
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
|
rs2066882139
|
|
|
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)
|
rs776431253
|
|
|
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
rs1388238708
|
|
|
NM_001354629.2(MLH1):c.208-3445_208-3433del
|
rs1057517543
|
|
|
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter)
|
rs1949357136
|
|
|
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)
|
rs80338858
|
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
|
NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs)
|
rs1462578042
|
|
|
NM_001369.3(DNAH5):c.3598+2T>C
|
rs981267400
|
|
|
NM_001369.3(DNAH5):c.5851_5852del (p.Asp1951fs)
|
rs2546902682
|
|
|
NM_001370259.2(MEN1):c.*1A>C
|
|
|
|
NM_001370259.2(MEN1):c.100C>T (p.Leu34=)
|
rs771554497
|
|
|
NM_001370259.2(MEN1):c.1020C>T (p.Ala340=)
|
|
|
|
NM_001370259.2(MEN1):c.1050-34_1050-14del
|
rs2497161877
|
|
|
NM_001370259.2(MEN1):c.1065G>C (p.Arg355=)
|
rs1592640719
|
|
|
NM_001370259.2(MEN1):c.1083C>T (p.Tyr361=)
|
rs1168237114
|
|
|
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)
|
rs869025185
|
|
|
NM_001370259.2(MEN1):c.108C>T (p.Leu36=)
|
rs1592660352
|
|
|
NM_001370259.2(MEN1):c.1098A>G (p.Glu366=)
|
rs149383809
|
|
|
NM_001370259.2(MEN1):c.1119C>A (p.Pro373=)
|
rs535417698
|
|
|
NM_001370259.2(MEN1):c.1147C>T (p.Leu383=)
|
rs2136109092
|
|
|
NM_001370259.2(MEN1):c.1155G>T (p.Ala385=)
|
rs201091135
|
|
|
NM_001370259.2(MEN1):c.1158C>G (p.Gly386=)
|
rs794728653
|
|
|
NM_001370259.2(MEN1):c.1170G>C (p.Pro390=)
|
rs587780841
|
|
|
NM_001370259.2(MEN1):c.1170G>T (p.Pro390=)
|
rs587780841
|
|
|
NM_001370259.2(MEN1):c.1173G>A (p.Gly391=)
|
rs1592639850
|
|
|
NM_001370259.2(MEN1):c.1186-10C>T
|
rs762303621
|
|
|
NM_001370259.2(MEN1):c.1191C>T (p.Thr397=)
|
rs1166154585
|
|
|
NM_001370259.2(MEN1):c.1203T>C (p.Gly401=)
|
rs878855187
|
|
|
NM_001370259.2(MEN1):c.1206C>A (p.Ser402=)
|
rs770037856
|
|
|
NM_001370259.2(MEN1):c.1209C>T (p.Ala403=)
|
|
|
|
NM_001370259.2(MEN1):c.1251C>T (p.Tyr417=)
|
rs751481164
|
|
|
NM_001370259.2(MEN1):c.126C>T (p.Gly42=)
|
rs2136193097
|
|
|
NM_001370259.2(MEN1):c.1287G>T (p.Thr429=)
|
rs376598079
|
|
|
NM_001370259.2(MEN1):c.129C>T (p.Phe43=)
|
rs1592660139
|
|
|
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)
|
rs104894259
|
|
|
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)
|
rs104894259
|
|
|
NM_001370259.2(MEN1):c.1314C>T (p.Thr438=)
|
rs897481809
|
|
|
NM_001370259.2(MEN1):c.1344G>A (p.Glu448=)
|
rs371339952
|
|
|
NM_001370259.2(MEN1):c.1350+3G>A
|
rs769835611
|
|
|
NM_001370259.2(MEN1):c.1351-24_1351-14del
|
rs753219137
|
|
|
NM_001370259.2(MEN1):c.1351-35ACCTTGCTCTC[3]
|
rs753219137
|
|
|
NM_001370259.2(MEN1):c.1356G>A (p.Arg452=)
|
rs1180957953
|
|
|
NM_001370259.2(MEN1):c.1359G>A (p.Gln453=)
|
rs2136094210
|
|
|
NM_001370259.2(MEN1):c.135G>A (p.Glu45=)
|
rs778670301
|
|
|
NM_001370259.2(MEN1):c.1365G>A (p.Val455=)
|
rs2497131947
|
|
|
NM_001370259.2(MEN1):c.1374G>C (p.Val458=)
|
rs771297499
|
|
|
NM_001370259.2(MEN1):c.1377C>T (p.Ser459=)
|
rs2136093597
|
|
|
NM_001370259.2(MEN1):c.1378C>A (p.Arg460=)
|
rs104894267
|
|
|
NM_001370259.2(MEN1):c.1380A>G (p.Arg460=)
|
rs2136093385
|
|
|
NM_001370259.2(MEN1):c.1386C>G (p.Ala462=)
|
rs771827808
|
|
|
NM_001370259.2(MEN1):c.1386C>T (p.Ala462=)
|
rs771827808
|
|
|
NM_001370259.2(MEN1):c.1392G>C (p.Ala464=)
|
rs754445482
|
|
|
NM_001370259.2(MEN1):c.1395C>G (p.Ala465=)
|
rs748820252
|
|
|
NM_001370259.2(MEN1):c.1398G>A (p.Glu466=)
|
rs990566024
|
|
|
NM_001370259.2(MEN1):c.1401C>G (p.Ala467=)
|
rs878855190
|
|
|
NM_001370259.2(MEN1):c.1410G>A (p.Pro470=)
|
rs1060503795
|
|
|
NM_001370259.2(MEN1):c.1419G>A (p.Glu473=)
|
rs2136091112
|
|
|
NM_001370259.2(MEN1):c.1437G>A (p.Arg479=)
|
rs1354865958
|
|
|
NM_001370259.2(MEN1):c.144G>A (p.Leu48=)
|
rs1329477531
|
|
|
NM_001370259.2(MEN1):c.144G>T (p.Leu48=)
|
rs1329477531
|
|
|
NM_001370259.2(MEN1):c.1453C>A (p.Arg485=)
|
rs1254459338
|
|
|
NM_001370259.2(MEN1):c.1455G>A (p.Arg485=)
|
rs2136089265
|
|
|
NM_001370259.2(MEN1):c.1479G>T (p.Pro493=)
|
rs546721780
|
|
|
NM_001370259.2(MEN1):c.1494A>T (p.Pro498=)
|
rs1037335560
|
|
|
NM_001370259.2(MEN1):c.1503C>T (p.Asp501=)
|
rs2136087305
|
|
|
NM_001370259.2(MEN1):c.1509C>T (p.Gly503=)
|
rs2497118734
|
|
|
NM_001370259.2(MEN1):c.1521C>A (p.Gly507=)
|
rs1407833502
|
|
|
NM_001370259.2(MEN1):c.1536A>G (p.Ser512=)
|
rs2136085950
|
|
|
NM_001370259.2(MEN1):c.153C>T (p.Asn51=)
|
rs1555166669
|
|
|
NM_001370259.2(MEN1):c.1554T>C (p.Pro518=)
|
rs2136084986
|
|
|
NM_001370259.2(MEN1):c.1569T>G (p.Ala523=)
|
rs1592631415
|
|
|
NM_001370259.2(MEN1):c.156C>T (p.Arg52=)
|
rs1592659960
|
|
|
NM_001370259.2(MEN1):c.1578C>T (p.Ala526=)
|
rs767655504
|
|
|
NM_001370259.2(MEN1):c.15C>A (p.Ala5=)
|
rs757821521
|
|
|
NM_001370259.2(MEN1):c.15C>T (p.Ala5=)
|
rs757821521
|
|
|
NM_001370259.2(MEN1):c.1602G>A (p.Thr534=)
|
rs1592631034
|
|
|
NM_001370259.2(MEN1):c.1602G>C (p.Thr534=)
|
rs1592631034
|
|
|
NM_001370259.2(MEN1):c.1620_1621inv (p.Thr541Ala)
|
|
|
|
NM_001370259.2(MEN1):c.1632A>G (p.Pro544=)
|
rs1440375091
|
|
|
NM_001370259.2(MEN1):c.1647A>G (p.Pro549=)
|
rs2136081746
|
|
|
NM_001370259.2(MEN1):c.1659C>T (p.Phe553=)
|
rs1299138529
|
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
|
NM_001370259.2(MEN1):c.1668G>A (p.Glu556=)
|
rs2136080910
|
|
|
NM_001370259.2(MEN1):c.1689G>A (p.Glu563=)
|
rs1178628764
|
|
|
NM_001370259.2(MEN1):c.171C>T (p.Asn57=)
|
rs1171829753
|
|
|
NM_001370259.2(MEN1):c.1729C>T (p.Leu577=)
|
rs762744342
|
|
|
NM_001370259.2(MEN1):c.1749G>A (p.Ser583=)
|
rs765105348
|
|
|
NM_001370259.2(MEN1):c.1749G>T (p.Ser583=)
|
rs765105348
|
|
|
NM_001370259.2(MEN1):c.1794C>T (p.Tyr598=)
|
rs2136077605
|
|
|
NM_001370259.2(MEN1):c.1806C>T (p.Phe602=)
|
rs1060503794
|
|
|
NM_001370259.2(MEN1):c.180G>A (p.Glu60=)
|
rs2136190736
|
|
|
NM_001370259.2(MEN1):c.189C>T (p.Phe63=)
|
rs137880635
|
|
|
NM_001370259.2(MEN1):c.18C>G (p.Ala6=)
|
rs369348210
|
|
|
NM_001370259.2(MEN1):c.195C>T (p.Pro65=)
|
rs1438097332
|
|
|
NM_001370259.2(MEN1):c.198C>T (p.Ser66=)
|
rs2136189969
|
|
|
NM_001370259.2(MEN1):c.201C>T (p.Pro67=)
|
rs1060503791
|
|
|
NM_001370259.2(MEN1):c.213G>A (p.Pro71=)
|
rs778154183
|
|
|
NM_001370259.2(MEN1):c.225C>T (p.Leu75=)
|
rs1333791405
|
|
|
NM_001370259.2(MEN1):c.228C>T (p.Thr76=)
|
rs1394017906
|
|
|
NM_001370259.2(MEN1):c.237C>T (p.Pro79=)
|
rs1592659200
|
|
|
NM_001370259.2(MEN1):c.243C>T (p.Ala81=)
|
rs1313339255
|
|
|
NM_001370259.2(MEN1):c.24G>A (p.Lys8=)
|
rs2136196440
|
|
|
NM_001370259.2(MEN1):c.264C>T (p.Ala88=)
|
rs754098190
|
|
|
NM_001370259.2(MEN1):c.267C>G (p.Leu89=)
|
rs1060499972
|
|
|
NM_001370259.2(MEN1):c.27G>A (p.Thr9=)
|
rs1190267704
|
|
|
NM_001370259.2(MEN1):c.282C>T (p.Thr94=)
|
rs760442763
|
|
|
NM_001370259.2(MEN1):c.288G>A (p.Gln96=)
|
rs2136185997
|
|
|
NM_001370259.2(MEN1):c.297C>T (p.Gly99=)
|
rs1941992347
|
|
|
NM_001370259.2(MEN1):c.300C>T (p.Ala100=)
|
rs773136972
|
|
|
NM_001370259.2(MEN1):c.306C>T (p.Asp102=)
|
rs1941991134
|
|
|
NM_001370259.2(MEN1):c.351G>A (p.Leu117=)
|
rs2136182319
|
|
|
NM_001370259.2(MEN1):c.360G>A (p.Lys120=)
|
rs1477714779
|
|
|
NM_001370259.2(MEN1):c.36G>A (p.Pro12=)
|
rs775721366
|
|
|
NM_001370259.2(MEN1):c.390C>T (p.Ser130=)
|
rs771272168
|
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
|
NM_001370259.2(MEN1):c.409C>A (p.Arg137=)
|
rs1208267598
|
|
|
NM_001370259.2(MEN1):c.411G>C (p.Arg137=)
|
rs371437505
|
|
|
NM_001370259.2(MEN1):c.417C>T (p.His139=)
|
rs386134254
|
|
|
NM_001370259.2(MEN1):c.420C>T (p.Ile140=)
|
rs778299878
|
|
|
NM_001370259.2(MEN1):c.429C>G (p.Leu143=)
|
rs2136178098
|
|
|
NM_001370259.2(MEN1):c.450C>T (p.Thr150=)
|
rs1425022697
|
|
|
NM_001370259.2(MEN1):c.45C>T (p.Ser15=)
|
rs1213911551
|
|
|
NM_001370259.2(MEN1):c.51C>T (p.Asp17=)
|
rs2136195633
|
|
|
NM_001370259.2(MEN1):c.579A>T (p.Thr193=)
|
rs1212976165
|
|
|
NM_001370259.2(MEN1):c.57G>A (p.Val19=)
|
rs759282395
|
|
|
NM_001370259.2(MEN1):c.582T>A (p.Ala194=)
|
rs1592650942
|
|
|
NM_001370259.2(MEN1):c.588C>T (p.Val196=)
|
rs1592650906
|
|
|
NM_001370259.2(MEN1):c.591C>G (p.Thr197=)
|
rs527294715
|
|
|
NM_001370259.2(MEN1):c.591C>T (p.Thr197=)
|
rs527294715
|
|
|
NM_001370259.2(MEN1):c.60G>C (p.Val20=)
|
rs776432516
|
|
|
NM_001370259.2(MEN1):c.627G>A (p.Gln209=)
|
rs1565647751
|
|
|
NM_001370259.2(MEN1):c.63C>T (p.Arg21=)
|
rs1018289242
|
|
|
NM_001370259.2(MEN1):c.645G>A (p.Val215=)
|
rs1347044526
|
|
|
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)
|
rs794728620
|
|
|
NM_001370259.2(MEN1):c.655-1G>C
|
rs1592649615
|
|
|
NM_001370259.2(MEN1):c.655-5dup
|
rs772016629
|
|
|
NM_001370259.2(MEN1):c.655-6C>A
|
rs77461664
|
|
|
NM_001370259.2(MEN1):c.663G>C (p.Leu221=)
|
rs1466764986
|
|
|
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro)
|
rs886039415
|
|
|
NM_001370259.2(MEN1):c.675A>T (p.Gly225=)
|
rs2497207176
|
|
|
NM_001370259.2(MEN1):c.720G>A (p.Val240=)
|
rs1555165534
|
|
|
NM_001370259.2(MEN1):c.750C>T (p.His250=)
|
rs2497204154
|
|
|
NM_001370259.2(MEN1):c.756C>T (p.Asp252=)
|
rs2497203921
|
|
|
NM_001370259.2(MEN1):c.75C>A (p.Ala25=)
|
rs1399788808
|
|
|
NM_001370259.2(MEN1):c.784-19TC[2]
|
rs764290037
|
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
|
NM_001370259.2(MEN1):c.786G>A (p.Lys262=)
|
rs2136134487
|
|
|
NM_001370259.2(MEN1):c.792C>G (p.Leu264=)
|
rs2136134213
|
|
|
NM_001370259.2(MEN1):c.819G>T (p.Leu273=)
|
rs748369241
|
|
|
NM_001370259.2(MEN1):c.81G>C (p.Leu27=)
|
rs1592660553
|
|
|
NM_001370259.2(MEN1):c.830C>A (p.Pro277His)
|
rs1060499973
|
|
|
NM_001370259.2(MEN1):c.831C>T (p.Pro277=)
|
rs2136129852
|
|
|
NM_001370259.2(MEN1):c.84C>T (p.Gly28=)
|
rs2136194730
|
|
|
NM_001370259.2(MEN1):c.861G>A (p.Glu287=)
|
rs1336658836
|
|
|
NM_001370259.2(MEN1):c.870G>A (p.Glu290=)
|
rs1337324454
|
|
|
NM_001370259.2(MEN1):c.873C>T (p.Pro291=)
|
rs2497187428
|
|
|
NM_001370259.2(MEN1):c.876C>G (p.Thr292=)
|
rs756782257
|
|
|
NM_001370259.2(MEN1):c.876C>T (p.Thr292=)
|
rs756782257
|
|
|
NM_001370259.2(MEN1):c.87A>C (p.Arg29=)
|
rs1198070818
|
|
|
NM_001370259.2(MEN1):c.894A>C (p.Pro298=)
|
rs2497186557
|
|
|
NM_001370259.2(MEN1):c.897C>T (p.Leu299=)
|
rs1409781409
|
|
|
NM_001370259.2(MEN1):c.915C>T (p.Gly305=)
|
rs1485325548
|
|
|
NM_001370259.2(MEN1):c.933C>T (p.Thr311=)
|
rs1592643965
|
|
|
NM_001370259.2(MEN1):c.963C>T (p.Tyr321=)
|
rs1555165094
|
|
|
NM_001370259.2(MEN1):c.96G>A (p.Pro32=)
|
rs1268807885
|
|
|
NM_001370259.2(MEN1):c.990C>G (p.Arg330=)
|
rs1359880787
|
|
|
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)
|
rs397514335
|
|
|
NM_001377.3(DYNC2H1):c.11565dup (p.Asp3856fs)
|
|
|
|
NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs)
|
rs1555052524
|
|
|
NM_001378454.1(ALMS1):c.1045A>T (p.Lys349Ter)
|
rs1467207143
|
|
|
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)
|
rs886038614
|
|
|
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter)
|
rs777080769
|
|
|
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)
|
rs137853003
|
|
|
NM_001384140.1(PCDH15):c.705+1G>A
|
rs1554903842
|
|
|
NM_001386140.1(MTTP):c.1769+2T>C
|
|
|
|
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs)
|
rs1679840658
|
|
|
NM_001692.4(ATP6V1B1):c.67C>T (p.Arg23Ter)
|
rs1553415274
|
|
|
NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter)
|
rs1337182136
|
|
|
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs)
|
rs1700454068
|
|
|
NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter)
|
rs1700523651
|
|
|
NM_001875.5(CPS1):c.4099C>T (p.Gln1367Ter)
|
rs1701172643
|
|
|
NM_001875.5(CPS1):c.4101+2T>C
|
rs767575696
|
|
|
NM_001876.4(CPT1A):c.1762_1766dup (p.Tyr589Ter)
|
rs2153995212
|
|
|
NM_001918.5(DBT):c.961C>T (p.Gln321Ter)
|
rs1662088383
|
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
|
NM_002439.5(MSH3):c.1534G>T (p.Glu512Ter)
|
rs1379605717
|
|
|
NM_002439.5(MSH3):c.2191C>T (p.Gln731Ter)
|
rs2112885230
|
|
|
NM_002439.5(MSH3):c.2749C>T (p.Gln917Ter)
|
rs1745048937
|
|
|
NM_002439.5(MSH3):c.763A>T (p.Lys255Ter)
|
rs2546721227
|
|
|
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter)
|
rs1554559308
|
|
|
NM_002485.5(NBN):c.848del (p.Pro283fs)
|
rs2129827996
|
|
|
NM_002495.4(NDUFS4):c.350+1G>A
|
rs1260453815
|
|
|
NM_002528.7(NTHL1):c.164_165del (p.Arg55fs)
|
rs1290880136
|
|
|
NM_002528.7(NTHL1):c.199A>T (p.Lys67Ter)
|
rs2548320872
|
|
|
NM_002528.7(NTHL1):c.203del (p.Gly68fs)
|
rs1555492819
|
|
|
NM_002528.7(NTHL1):c.211dup (p.Ala71fs)
|
rs745671590
|
|
|
NM_002528.7(NTHL1):c.232del (p.Val78fs)
|
rs1314290585
|
|
|
NM_002528.7(NTHL1):c.350del (p.Pro117fs)
|
rs763525759
|
|
|
NM_002528.7(NTHL1):c.350dup (p.Val119fs)
|
rs763525759
|
|
|
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs)
|
rs1596220478
|
|
|
NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter)
|
rs758667255
|
|
|
NM_002528.7(NTHL1):c.625_626del (p.Val209fs)
|
rs2150941243
|
|
|
NM_002528.7(NTHL1):c.745A>T (p.Lys249Ter)
|
rs2150938327
|
|
|
NM_002529.4(NTRK1):c.1251+1G>A
|
rs754483923
|
|
|
NM_002529.4(NTRK1):c.268_277del (p.Gly89_Leu90insTer)
|
rs2525572091
|
|
|
NM_002691.4(POLD1):c.1002C>T (p.Val334=)
|
|
|
|
NM_002691.4(POLD1):c.1008G>A (p.Gln336=)
|
rs1060501825
|
|
|
NM_002691.4(POLD1):c.1011C>A (p.Ile337=)
|
rs1220975957
|
|
|
NM_002691.4(POLD1):c.1017G>A (p.Ser339=)
|
rs373404887
|
|
|
NM_002691.4(POLD1):c.1023C>T (p.Gly341=)
|
rs1601204206
|
|
|
NM_002691.4(POLD1):c.1024C>T (p.Leu342=)
|
|
|
|
NM_002691.4(POLD1):c.1029C>A (p.Arg343=)
|
rs759213871
|
|
|
NM_002691.4(POLD1):c.1029C>G (p.Arg343=)
|
rs759213871
|
|
|
NM_002691.4(POLD1):c.1035G>A (p.Gly345=)
|
rs1601204320
|
|
|
NM_002691.4(POLD1):c.1038G>A (p.Glu346=)
|
rs2122269479
|
|
|
NM_002691.4(POLD1):c.1051C>T (p.Leu351=)
|
rs1555790421
|
|
|
NM_002691.4(POLD1):c.1057C>T (p.Leu353=)
|
rs1601204455
|
|
|
NM_002691.4(POLD1):c.1059G>A (p.Leu353=)
|
rs1601204466
|
|
|
NM_002691.4(POLD1):c.1065C>A (p.Leu355=)
|
rs1555790429
|
|
|
NM_002691.4(POLD1):c.1065C>T (p.Leu355=)
|
rs1555790429
|
|
|
NM_002691.4(POLD1):c.1069C>T (p.Leu357=)
|
rs766467152
|
|
|
NM_002691.4(POLD1):c.1077C>T (p.Pro359=)
|
rs747907179
|
|
|
NM_002691.4(POLD1):c.1086C>A (p.Pro362=)
|
rs1379420694
|
|
|
NM_002691.4(POLD1):c.1086C>T (p.Pro362=)
|
rs1379420694
|
|
|
NM_002691.4(POLD1):c.1089C>T (p.Ile363=)
|
rs2122271134
|
|
|
NM_002691.4(POLD1):c.1090C>T (p.Leu364=)
|
rs2122271161
|
|
|
NM_002691.4(POLD1):c.1095T>C (p.Gly365=)
|
rs1057522748
|
|
|
NM_002691.4(POLD1):c.1098C>T (p.Ala366=)
|
rs2513973913
|
|
|
NM_002691.4(POLD1):c.1101G>A (p.Lys367=)
|
rs2038729860
|
|
|
NM_002691.4(POLD1):c.1107G>A (p.Gln369=)
|
rs1400257948
|
|
|
NM_002691.4(POLD1):c.1116G>A (p.Glu372=)
|
rs2513974051
|
|
|
NM_002691.4(POLD1):c.1119G>A (p.Lys373=)
|
rs2513974090
|
|
|
NM_002691.4(POLD1):c.1122G>A (p.Glu374=)
|
rs1304117623
|
|
|
NM_002691.4(POLD1):c.1131G>A (p.Leu377=)
|
rs2038731908
|
|
|
NM_002691.4(POLD1):c.1138-5C>T
|
rs1374129343
|
|
|
NM_002691.4(POLD1):c.1140C>A (p.Ala380=)
|
rs1555790554
|
|
|
NM_002691.4(POLD1):c.1140C>T (p.Ala380=)
|
|
|
|
NM_002691.4(POLD1):c.1155C>A (p.Ile385=)
|
rs1555790563
|
|
|
NM_002691.4(POLD1):c.1158T>C (p.Arg386=)
|
rs1601206043
|
|
|
NM_002691.4(POLD1):c.1176G>A (p.Val392=)
|
|
|
|
NM_002691.4(POLD1):c.1179C>T (p.Ile393=)
|
rs2122278219
|
|
|
NM_002691.4(POLD1):c.1185T>C (p.Gly395=)
|
rs1601206201
|
|
|
NM_002691.4(POLD1):c.1188C>T (p.Tyr396=)
|
rs2513977162
|
|
|
NM_002691.4(POLD1):c.1203C>T (p.Phe401=)
|
rs746700905
|
|
|
NM_002691.4(POLD1):c.1204G>A (p.Asp402Asn)
|
rs1426325954
|
|
|
NM_002691.4(POLD1):c.1215C>T (p.Tyr405=)
|
rs1555790585
|
|
|
NM_002691.4(POLD1):c.1239C>T (p.Leu413=)
|
rs992994991
|
|
|
NM_002691.4(POLD1):c.1242+3G>A
|
rs2513977781
|
|
|
NM_002691.4(POLD1):c.1243-11C>T
|
rs2122315641
|
|
|
NM_002691.4(POLD1):c.1243-20A>G
|
rs1601214948
|
|
|
NM_002691.4(POLD1):c.1245A>G (p.Val415=)
|
rs2122316070
|
|
|
NM_002691.4(POLD1):c.1251A>G (p.Thr417=)
|
rs1601215170
|
|
|
NM_002691.4(POLD1):c.1254C>T (p.Phe418=)
|
rs2038871423
|
|
|
NM_002691.4(POLD1):c.1260C>T (p.Phe420=)
|
rs1601215186
|
|
|
NM_002691.4(POLD1):c.1269T>C (p.Arg423=)
|
rs2122316891
|
|
|
NM_002691.4(POLD1):c.1284C>T (p.Cys428=)
|
rs1601215350
|
|
|
NM_002691.4(POLD1):c.1299C>T (p.Asp433=)
|
rs1555791106
|
|
|
NM_002691.4(POLD1):c.1305A>C (p.Ser435=)
|
rs2122318403
|
|
|
NM_002691.4(POLD1):c.1305A>G (p.Ser435=)
|
rs2122318403
|
|
|
NM_002691.4(POLD1):c.1323G>A (p.Thr441=)
|
rs768901366
|
|
|
NM_002691.4(POLD1):c.1323G>T (p.Thr441=)
|
rs768901366
|
|
|
NM_002691.4(POLD1):c.1326C>T (p.Gly442=)
|
rs2038875580
|
|
|
NM_002691.4(POLD1):c.1329G>A (p.Arg443=)
|
rs2122319463
|
|
|
NM_002691.4(POLD1):c.1338C>G (p.Thr446=)
|
rs1057521359
|
|
|
NM_002691.4(POLD1):c.1347C>T (p.Val449=)
|
rs2122320508
|
|
|
NM_002691.4(POLD1):c.1350C>T (p.Ser450=)
|
rs2038876789
|
|
|
NM_002691.4(POLD1):c.1362C>G (p.Arg454=)
|
rs773075581
|
|
|
NM_002691.4(POLD1):c.1365G>A (p.Val455=)
|
rs2122321402
|
|
|
NM_002691.4(POLD1):c.1374C>T (p.Asp458=)
|
rs2038878765
|
|
|
NM_002691.4(POLD1):c.1380G>A (p.Leu460=)
|
rs2038879186
|
|
|
NM_002691.4(POLD1):c.1383+4T>A
|
rs1060501854
|
|
|
NM_002691.4(POLD1):c.1384-13C>G
|
rs536467012
|
|
|
NM_002691.4(POLD1):c.1384-14A>C
|
rs2513994179
|
|
|
NM_002691.4(POLD1):c.1384-3T>C
|
rs2038884150
|
|
|
NM_002691.4(POLD1):c.1386G>A (p.Val462=)
|
rs2122325613
|
|
|
NM_002691.4(POLD1):c.1392G>A (p.Leu464=)
|
|
|
|
NM_002691.4(POLD1):c.1395G>A (p.Arg465=)
|
rs2038884888
|
|
|
NM_002691.4(POLD1):c.1398G>A (p.Glu466=)
|
rs1555791173
|
|
|
NM_002691.4(POLD1):c.1401C>T (p.Tyr467=)
|
rs1555791180
|
|
|
NM_002691.4(POLD1):c.1410C>T (p.Arg470=)
|
rs2122326571
|
|
|
NM_002691.4(POLD1):c.1413C>T (p.Ser471=)
|
rs2122326640
|
|
|
NM_002691.4(POLD1):c.1419G>T (p.Thr473=)
|
rs763643495
|
|
|
NM_002691.4(POLD1):c.1421T>C (p.Leu474Pro)
|
rs587777627
|
|
|
NM_002691.4(POLD1):c.1422C>G (p.Leu474=)
|
rs369332787
|
|
|
NM_002691.4(POLD1):c.1422C>T (p.Leu474=)
|
rs369332787
|
|
|
NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn)
|
rs397514632
|
|
|
NM_002691.4(POLD1):c.1443C>T (p.Phe481=)
|
rs1489180867
|
|
|
NM_002691.4(POLD1):c.1444C>T (p.Leu482=)
|
rs2122327315
|
|
|
NM_002691.4(POLD1):c.1449C>G (p.Gly483=)
|
rs878854522
|
|
|
NM_002691.4(POLD1):c.1452G>A (p.Glu484=)
|
rs1191052495
|
|
|
NM_002691.4(POLD1):c.1458G>A (p.Lys486=)
|
rs2513995179
|
|
|
NM_002691.4(POLD1):c.1470G>A (p.Gln490=)
|
rs1384806459
|
|
|
NM_002691.4(POLD1):c.1473C>T (p.His491=)
|
rs2038889765
|
|
|
NM_002691.4(POLD1):c.1485C>G (p.Thr495=)
|
rs2230245
|
|
|
NM_002691.4(POLD1):c.1489C>T (p.Leu497=)
|
rs1057522413
|
|
|
NM_002691.4(POLD1):c.1494+5C>T
|
rs565428379
|
|
|
NM_002691.4(POLD1):c.1497T>C (p.Asn499=)
|
rs1601218865
|
|
|
NM_002691.4(POLD1):c.1506C>T (p.Asp502=)
|
rs753870010
|
|
|
NM_002691.4(POLD1):c.1524G>A (p.Leu508=)
|
rs1601219069
|
|
|
NM_002691.4(POLD1):c.1530G>A (p.Val510=)
|
rs2038914261
|
|
|
NM_002691.4(POLD1):c.1533C>T (p.Tyr511=)
|
rs2122336754
|
|
|
NM_002691.4(POLD1):c.1554G>A (p.Leu518=)
|
rs2513999892
|
|
|
NM_002691.4(POLD1):c.1558C>T (p.Leu520=)
|
rs1026145989
|
|
|
NM_002691.4(POLD1):c.1564C>T (p.Leu522=)
|
rs1601219353
|
|
|
NM_002691.4(POLD1):c.1566G>C (p.Leu522=)
|
rs1601219364
|
|
|
NM_002691.4(POLD1):c.1567C>T (p.Leu523=)
|
rs1555791382
|
|
|
NM_002691.4(POLD1):c.1572G>A (p.Glu524=)
|
rs1601219373
|
|
|
NM_002691.4(POLD1):c.1573C>A (p.Arg525=)
|
rs201804732
|
|
|
NM_002691.4(POLD1):c.1575G>C (p.Arg525=)
|
rs984632459
|
|
|
NM_002691.4(POLD1):c.1575G>T (p.Arg525=)
|
rs984632459
|
|
|
NM_002691.4(POLD1):c.1578C>T (p.Leu526=)
|
rs1212558974
|
|
|
NM_002691.4(POLD1):c.1587G>A (p.Leu529=)
|
rs148226884
|
|
|
NM_002691.4(POLD1):c.1608G>C (p.Ala536=)
|
rs568549476
|
|
|
NM_002691.4(POLD1):c.1614C>T (p.Val538=)
|
rs1555791419
|
|
|
NM_002691.4(POLD1):c.1629C>A (p.Leu543=)
|
rs1601219755
|
|
|
NM_002691.4(POLD1):c.1629C>T (p.Leu543=)
|
rs1601219755
|
|
|
NM_002691.4(POLD1):c.1641C>G (p.Leu547=)
|
rs770573148
|
|
|
NM_002691.4(POLD1):c.1647T>C (p.Arg549=)
|
rs1601219883
|
|
|
NM_002691.4(POLD1):c.1653G>A (p.Gln551=)
|
rs919580802
|
|
|
NM_002691.4(POLD1):c.1659C>T (p.Val553=)
|
rs2038923516
|
|
|
NM_002691.4(POLD1):c.1662G>A (p.Lys554=)
|
rs1132244
|
|
|
NM_002691.4(POLD1):c.1665C>A (p.Val555=)
|
rs150238541
|
|
|
NM_002691.4(POLD1):c.1671C>G (p.Ser557=)
|
rs1601220047
|
|
|
NM_002691.4(POLD1):c.1677G>A (p.Leu559=)
|
rs1555791446
|
|
|
NM_002691.4(POLD1):c.1677G>C (p.Leu559=)
|
rs1555791446
|
|
|
NM_002691.4(POLD1):c.1680G>A (p.Leu560=)
|
rs1193877394
|
|
|
NM_002691.4(POLD1):c.1683G>C (p.Arg561=)
|
|
|
|
NM_002691.4(POLD1):c.846G>T (p.Thr282=)
|
rs780498642
|
|
|
NM_002691.4(POLD1):c.852C>T (p.Cys284=)
|
rs1163046836
|
|
|
NM_002691.4(POLD1):c.871C>T (p.Leu291=)
|
rs2038698205
|
|
|
NM_002691.4(POLD1):c.873G>A (p.Leu291=)
|
rs1057522553
|
|
|
NM_002691.4(POLD1):c.879T>C (p.Ser293=)
|
rs2122256752
|
|
|
NM_002691.4(POLD1):c.885G>A (p.Val295=)
|
rs201946114
|
|
|
NM_002691.4(POLD1):c.900G>A (p.Pro300=)
|
rs142407935
|
|
|
NM_002691.4(POLD1):c.900G>C (p.Pro300=)
|
rs142407935
|
|
|
NM_002691.4(POLD1):c.900G>T (p.Pro300=)
|
rs142407935
|
|
|
NM_002691.4(POLD1):c.906G>C (p.Gly302=)
|
rs2513969228
|
|
|
NM_002691.4(POLD1):c.915G>A (p.Gln305=)
|
rs2122258558
|
|
|
NM_002691.4(POLD1):c.918C>A (p.Arg306=)
|
rs878854559
|
|
|
NM_002691.4(POLD1):c.924G>A (p.Ala308=)
|
rs1601202732
|
|
|
NM_002691.4(POLD1):c.933C>A (p.Arg311=)
|
rs749278926
|
|
|
NM_002691.4(POLD1):c.939C>T (p.Leu313=)
|
rs2122259809
|
|
|
NM_002691.4(POLD1):c.942C>T (p.Ser314=)
|
rs1555790296
|
|
|
NM_002691.4(POLD1):c.954G>A (p.Glu318=)
|
rs2122260360
|
|
|
NM_002691.4(POLD1):c.960C>G (p.Ala320=)
|
rs761783513
|
|
|
NM_002691.4(POLD1):c.963C>A (p.Gly321=)
|
rs2122260840
|
|
|
NM_002691.4(POLD1):c.963C>T (p.Gly321=)
|
rs2122260840
|
|
|
NM_002691.4(POLD1):c.966C>T (p.Arg322=)
|
rs927325156
|
|
|
NM_002691.4(POLD1):c.971-4G>T
|
rs200144991
|
|
|
NM_002691.4(POLD1):c.971-5C>T
|
rs778993986
|
|
|
NM_002691.4(POLD1):c.975C>T (p.Ile325=)
|
rs747246607
|
|
|
NM_002691.4(POLD1):c.978C>T (p.Phe326=)
|
rs2513972687
|
|
|
NM_002691.4(POLD1):c.987T>C (p.Pro329=)
|
rs2513972757
|
|
|
NM_002691.4(POLD1):c.990G>A (p.Glu330=)
|
rs2038721920
|
|
|
NM_002691.4(POLD1):c.993G>A (p.Arg331=)
|
rs2122268281
|
|
|
NM_002691.4(POLD1):c.996C>T (p.Asp332=)
|
rs781015976
|
|
|
NM_002693.3(POLG):c.3601del (p.Ser1201fs)
|
rs781311846
|
|
|
NM_002878.4(RAD51D):c.105C>T (p.Asp35=)
|
rs1555570413
|
|
|
NM_002878.4(RAD51D):c.114G>A (p.Glu38=)
|
rs2142477518
|
|
|
NM_002878.4(RAD51D):c.117A>G (p.Val39=)
|
rs876660008
|
|
|
NM_002878.4(RAD51D):c.12C>T (p.Leu4=)
|
rs786203193
|
|
|
NM_002878.4(RAD51D):c.131_144+24del
|
rs1064795716
|
|
|
NM_002878.4(RAD51D):c.13A>C (p.Arg5=)
|
rs876660779
|
|
|
NM_002878.4(RAD51D):c.141C>G (p.Tyr47Ter)
|
rs771077929
|
|
|
NM_002878.4(RAD51D):c.141C>T (p.Tyr47=)
|
rs771077929
|
|
|
NM_002878.4(RAD51D):c.144+1G>T
|
rs2142477107
|
|
|
NM_002878.4(RAD51D):c.156C>G (p.Ala52=)
|
rs2142474782
|
|
|
NM_002878.4(RAD51D):c.160A>C (p.Arg54=)
|
|
|
|
NM_002878.4(RAD51D):c.171G>C (p.Leu57=)
|
rs786202885
|
|
|
NM_002878.4(RAD51D):c.177T>C (p.Ala59=)
|
rs1567735421
|
|
|
NM_002878.4(RAD51D):c.180G>A (p.Gln60=)
|
rs1423192061
|
|
|
NM_002878.4(RAD51D):c.18C>T (p.Val6=)
|
rs1200345768
|
|
|
NM_002878.4(RAD51D):c.192C>T (p.Phe64=)
|
rs1567735397
|
|
|
NM_002878.4(RAD51D):c.195C>G (p.Pro65=)
|
rs376616485
|
|
|
NM_002878.4(RAD51D):c.204C>A (p.Gly68=)
|
rs764351040
|
|
|
NM_002878.4(RAD51D):c.204C>T (p.Gly68=)
|
rs764351040
|
|
|
NM_002878.4(RAD51D):c.213C>G (p.Leu71=)
|
rs745546403
|
|
|
NM_002878.4(RAD51D):c.216_218del (p.Tyr72_Glu73delinsTer)
|
rs2509181675
|
|
|
NM_002878.4(RAD51D):c.219G>A (p.Glu73=)
|
rs2142474030
|
|
|
NM_002878.4(RAD51D):c.21A>G (p.Gly7=)
|
rs2142480858
|
|
|
NM_002878.4(RAD51D):c.223C>T (p.Leu75=)
|
rs746929682
|
|
|
NM_002878.4(RAD51D):c.225G>A (p.Leu75=)
|
rs2142473944
|
|
|
NM_002878.4(RAD51D):c.231C>G (p.Thr77=)
|
rs376670250
|
|
|
NM_002878.4(RAD51D):c.240C>A (p.Ala80=)
|
rs2142473765
|
|
|
NM_002878.4(RAD51D):c.240C>T (p.Ala80=)
|
rs2142473765
|
|
|
NM_002878.4(RAD51D):c.243C>T (p.Ile81=)
|
rs1483056988
|
|
|
NM_002878.4(RAD51D):c.246G>A (p.Leu82=)
|
rs778585939
|
|
|
NM_002878.4(RAD51D):c.264-1G>A
|
rs2091622013
|
|
|
NM_002878.4(RAD51D):c.264-2A>G
|
rs1555568514
|
|
|
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)
|
rs753862052
|
|
|
NM_002878.4(RAD51D):c.276G>T (p.Leu92=)
|
rs1057522424
|
|
|
NM_002878.4(RAD51D):c.291C>T (p.Leu97=)
|
rs1597863353
|
|
|
NM_002878.4(RAD51D):c.294_295del (p.Thr99fs)
|
rs2509143037
|
|
|
NM_002878.4(RAD51D):c.300A>C (p.Gly100=)
|
rs1555568499
|
|
|
NM_002878.4(RAD51D):c.324C>A (p.Gly108=)
|
rs758132417
|
|
|
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter)
|
rs786202434
|
|
|
NM_002878.4(RAD51D):c.336C>T (p.Gly112=)
|
rs2142436504
|
|
|
NM_002878.4(RAD51D):c.33C>T (p.Gly11=)
|
rs760444811
|
|
|
NM_002878.4(RAD51D):c.345G>C (p.Gln115His)
|
rs1555568469
|
|
|
NM_002878.4(RAD51D):c.346-1G>C
|
rs1555568386
|
|
|
NM_002878.4(RAD51D):c.348A>T (p.Val116=)
|
rs1233886388
|
|
|
NM_002878.4(RAD51D):c.354C>T (p.Leu118=)
|
rs2142433941
|
|
|
NM_002878.4(RAD51D):c.357T>C (p.Cys119=)
|
rs1272809785
|
|
|
NM_002878.4(RAD51D):c.369T>C (p.Asn123=)
|
rs2142433717
|
|
|
NM_002878.4(RAD51D):c.372G>A (p.Val124=)
|
rs1597862777
|
|
|
NM_002878.4(RAD51D):c.372G>T (p.Val124=)
|
rs1597862777
|
|
|
NM_002878.4(RAD51D):c.378T>C (p.His126=)
|
rs2142433584
|
|
|
NM_002878.4(RAD51D):c.39C>T (p.Thr13=)
|
rs146448657
|
|
|
NM_002878.4(RAD51D):c.417A>C (p.Gly139=)
|
rs786202049
|
|
|
NM_002878.4(RAD51D):c.420G>T (p.Gly140=)
|
rs1567728317
|
|
|
NM_002878.4(RAD51D):c.423G>A (p.Leu141=)
|
rs2142432938
|
|
|
NM_002878.4(RAD51D):c.438C>T (p.Leu146=)
|
rs145452047
|
|
|
NM_002878.4(RAD51D):c.441C>A (p.Leu147=)
|
rs1567728273
|
|
|
NM_002878.4(RAD51D):c.441C>G (p.Leu147=)
|
|
|
|
NM_002878.4(RAD51D):c.445C>T (p.Leu149=)
|
rs1555568301
|
|
|
NM_002878.4(RAD51D):c.453G>A (p.Gln151=)
|
|
|
|
NM_002878.4(RAD51D):c.462C>T (p.Thr154=)
|
rs2091612775
|
|
|
NM_002878.4(RAD51D):c.463C>T (p.Gln155Ter)
|
rs1555568293
|
|
|
NM_002878.4(RAD51D):c.471G>A (p.Glu157=)
|
rs55942401
|
|
|
NM_002878.4(RAD51D):c.474G>A (p.Glu158=)
|
rs1161017731
|
|
|
NM_002878.4(RAD51D):c.483A>G (p.Ala161=)
|
rs2142429725
|
|
|
NM_002878.4(RAD51D):c.489T>C (p.Ala163=)
|
rs2142429662
|
|
|
NM_002878.4(RAD51D):c.507G>A (p.Val169=)
|
rs1555568162
|
|
|
NM_002878.4(RAD51D):c.516A>C (p.Ala172=)
|
rs2142429380
|
|
|
NM_002878.4(RAD51D):c.516A>G (p.Ala172=)
|
rs2142429380
|
|
|
NM_002878.4(RAD51D):c.51C>T (p.Ile17=)
|
rs769903986
|
|
|
NM_002878.4(RAD51D):c.51_52delinsG (p.Ile17fs)
|
rs2142480422
|
|
|
NM_002878.4(RAD51D):c.522C>T (p.Asp174=)
|
|
|
|
NM_002878.4(RAD51D):c.531G>A (p.Gln177=)
|
rs1555568143
|
|
|
NM_002878.4(RAD51D):c.543G>A (p.Val181=)
|
rs1555568135
|
|
|
NM_002878.4(RAD51D):c.54G>A (p.Gln18=)
|
rs1331918329
|
|
|
NM_002878.4(RAD51D):c.564T>C (p.Thr188=)
|
rs1258276444
|
|
|
NM_002878.4(RAD51D):c.576+1G>T
|
rs781161543
|
|
|
NM_002878.4(RAD51D):c.577-2A>G
|
rs1555567649
|
|
|
NM_002878.4(RAD51D):c.579G>T (p.Val193=)
|
|
|
|
NM_002878.4(RAD51D):c.582T>A (p.Thr194=)
|
rs1555567645
|
|
|
NM_002878.4(RAD51D):c.584del (p.Gly195fs)
|
rs2509130611
|
|
|
NM_002878.4(RAD51D):c.597T>C (p.Thr199=)
|
rs1597858897
|
|
|
NM_002878.4(RAD51D):c.603G>A (p.Lys201=)
|
rs2091565129
|
|
|
NM_002878.4(RAD51D):c.606G>C (p.Val202=)
|
rs1555567627
|
|
|
NM_002878.4(RAD51D):c.609G>C (p.Val203=)
|
rs876660256
|
|
|
NM_002878.4(RAD51D):c.615G>A (p.Val205=)
|
rs1555567620
|
|
|
NM_002878.4(RAD51D):c.618C>T (p.Asp206=)
|
rs2142420737
|
|
|
NM_002878.4(RAD51D):c.621G>C (p.Ser207=)
|
rs749859221
|
|
|
NM_002878.4(RAD51D):c.623dup (p.Thr209fs)
|
rs1555567610
|
|
|
NM_002878.4(RAD51D):c.630G>C (p.Ala210=)
|
rs762585552
|
|
|
NM_002878.4(RAD51D):c.639C>G (p.Ser213=)
|
|
|
|
NM_002878.4(RAD51D):c.642A>G (p.Pro214=)
|
rs876660847
|
|
|
NM_002878.4(RAD51D):c.645T>A (p.Leu215=)
|
rs1597858726
|
|
|
NM_002878.4(RAD51D):c.667+2T>C
|
rs2142420150
|
|
|
NM_002878.4(RAD51D):c.667+3G>A
|
rs773138393
|
|
|
NM_002878.4(RAD51D):c.668-13CCT[2]
|
rs1230625396
|
|
|
NM_002878.4(RAD51D):c.668-20dup
|
rs2142419061
|
|
|
NM_002878.4(RAD51D):c.668-25CT[2]
|
rs2142419078
|
|
|
NM_002878.4(RAD51D):c.66C>T (p.Ser22=)
|
rs876660902
|
|
|
NM_002878.4(RAD51D):c.675C>A (p.Ala225=)
|
rs760789270
|
|
|
NM_002878.4(RAD51D):c.675C>T (p.Ala225=)
|
rs760789270
|
|
|
NM_002878.4(RAD51D):c.690G>A (p.Leu230=)
|
rs1555567526
|
|
|
NM_002878.4(RAD51D):c.693C>G (p.Ala231=)
|
rs1597858361
|
|
|
NM_002878.4(RAD51D):c.694C>A (p.Arg232=)
|
rs587780104
|
|
|
NM_002878.4(RAD51D):c.694_697dup (p.Glu233fs)
|
rs2142418516
|
|
|
NM_002878.4(RAD51D):c.69C>T (p.His23=)
|
rs1597878540
|
|
|
NM_002878.4(RAD51D):c.6C>A (p.Gly2=)
|
rs1255954226
|
|
|
NM_002878.4(RAD51D):c.6C>T (p.Gly2=)
|
rs1255954226
|
|
|
NM_002878.4(RAD51D):c.702G>A (p.Leu234=)
|
rs901491798
|
|
|
NM_002878.4(RAD51D):c.714C>A (p.Ala238=)
|
rs780258990
|
|
|
NM_002878.4(RAD51D):c.714C>T (p.Ala238=)
|
rs780258990
|
|
|
NM_002878.4(RAD51D):c.720C>T (p.Asp240=)
|
rs1555567499
|
|
|
NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter)
|
rs1555567197
|
|
|
NM_002878.4(RAD51D):c.741G>A (p.Val247=)
|
rs757986080
|
|
|
NM_002878.4(RAD51D):c.741G>C (p.Val247=)
|
rs757986080
|
|
|
NM_002878.4(RAD51D):c.750C>T (p.His250=)
|
rs1300633211
|
|
|
NM_002878.4(RAD51D):c.757C>A (p.Arg253=)
|
rs137886232
|
|
|
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)
|
rs137886232
|
|
|
NM_002878.4(RAD51D):c.762C>T (p.Asp254=)
|
rs2142412351
|
|
|
NM_002878.4(RAD51D):c.768C>T (p.Asp256=)
|
rs569428131
|
|
|
NM_002878.4(RAD51D):c.772_778del (p.Gly258fs)
|
rs1064795045
|
|
|
NM_002878.4(RAD51D):c.786T>C (p.Pro262=)
|
rs771631684
|
|
|
NM_002878.4(RAD51D):c.786T>G (p.Pro262=)
|
rs771631684
|
|
|
NM_002878.4(RAD51D):c.792C>T (p.Leu264=)
|
rs536544621
|
|
|
NM_002878.4(RAD51D):c.801C>T (p.Ser267=)
|
rs2509124901
|
|
|
NM_002878.4(RAD51D):c.807C>T (p.Ser269=)
|
rs764319986
|
|
|
NM_002878.4(RAD51D):c.81del (p.Val28fs)
|
rs1064793952
|
|
|
NM_002878.4(RAD51D):c.823C>A (p.Arg275=)
|
rs752780416
|
|
|
NM_002878.4(RAD51D):c.828T>C (p.Ile276=)
|
|
|
|
NM_002878.4(RAD51D):c.832C>T (p.Leu278=)
|
rs2091533606
|
|
|
NM_002878.4(RAD51D):c.834G>A (p.Leu278=)
|
rs876658123
|
|
|
NM_002878.4(RAD51D):c.837C>T (p.Asp279=)
|
rs2142411560
|
|
|
NM_002878.4(RAD51D):c.849A>C (p.Gly283=)
|
rs766847072
|
|
|
NM_002878.4(RAD51D):c.855A>T (p.Gly285=)
|
|
|
|
NM_002878.4(RAD51D):c.85del (p.Val29fs)
|
rs1057517586
|
|
|
NM_002878.4(RAD51D):c.867C>G (p.Gly289=)
|
rs2091532621
|
|
|
NM_002878.4(RAD51D):c.867C>T (p.Gly289=)
|
rs2091532621
|
|
|
NM_002878.4(RAD51D):c.870G>A (p.Arg290=)
|
rs2091532491
|
|
|
NM_002878.4(RAD51D):c.879G>C (p.Ala293=)
|
rs368209468
|
|
|
NM_002878.4(RAD51D):c.879G>T (p.Ala293=)
|
rs368209468
|
|
|
NM_002878.4(RAD51D):c.885G>A (p.Leu295=)
|
rs876659714
|
|
|
NM_002878.4(RAD51D):c.885G>T (p.Leu295=)
|
rs876659714
|
|
|
NM_002878.4(RAD51D):c.898del (p.Arg300fs)
|
rs786202251
|
|
|
NM_002878.4(RAD51D):c.903+6C>T
|
rs2142410756
|
|
|
NM_002878.4(RAD51D):c.904-12TTC[2]
|
rs779850240
|
|
|
NM_002878.4(RAD51D):c.912T>C (p.Gly304=)
|
rs2142409341
|
|
|
NM_002878.4(RAD51D):c.921G>A (p.Glu307=)
|
rs1057523377
|
|
|
NM_002878.4(RAD51D):c.930C>T (p.Asp310=)
|
rs2142409178
|
|
|
NM_002878.4(RAD51D):c.939C>A (p.Thr313=)
|
rs374318553
|
|
|
NM_002878.4(RAD51D):c.948C>G (p.Thr316=)
|
rs1195107125
|
|
|
NM_002878.4(RAD51D):c.94_95del (p.Val32fs)
|
rs786203137
|
|
|
NM_002878.4(RAD51D):c.954G>A (p.Glu318=)
|
rs876658131
|
|
|
NM_002878.4(RAD51D):c.984A>G (p.Thr328=)
|
rs1597855297
|
|
|
NM_003000.3(SDHB):c.565T>C (p.Cys189Arg)
|
rs2077978513
|
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
|
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)
|
rs1385634398
|
|
|
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)
|
rs1437174685
|
|
|
NM_003072.5(SMARCA4):c.134C>A (p.Pro45His)
|
rs367601832
|
|
|
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)
|
rs1428656431
|
|
|
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
|
rs137853022
|
|
|
NM_003640.5(ELP1):c.882G>A (p.Trp294Ter)
|
rs2537936552
|
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
|
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)
|
rs750380279
|
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
|
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter)
|
rs778737664
|
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
|
NM_004168.4(SDHA):c.944dup (p.Gly316fs)
|
rs1579402180
|
|
|
NM_004329.3(BMPR1A):c.*1T>C
|
rs1843704052
|
|
|
NM_004329.3(BMPR1A):c.*2G>A
|
rs876660618
|
|
|
NM_004329.3(BMPR1A):c.1000T>C (p.Leu334=)
|
rs749873461
|
|
|
NM_004329.3(BMPR1A):c.1011A>G (p.Ser337=)
|
|
|
|
NM_004329.3(BMPR1A):c.1023T>C (p.Gly341=)
|
rs2133591869
|
|
|
NM_004329.3(BMPR1A):c.1023T>G (p.Gly341=)
|
rs2133591869
|
|
|
NM_004329.3(BMPR1A):c.1029C>T (p.Cys343=)
|
rs2133591953
|
|
|
NM_004329.3(BMPR1A):c.1032C>T (p.His344=)
|
rs1589291699
|
|
|
NM_004329.3(BMPR1A):c.1041A>T (p.Thr347=)
|
|
|
|
NM_004329.3(BMPR1A):c.1044A>G (p.Glu348=)
|
rs781082609
|
|
|
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=)
|
rs1060503407
|
|
|
NM_004329.3(BMPR1A):c.1062A>G (p.Gly354=)
|
rs2539621694
|
|
|
NM_004329.3(BMPR1A):c.1077T>A (p.Ala359=)
|
rs761131818
|
|
|
NM_004329.3(BMPR1A):c.1077T>C (p.Ala359=)
|
rs761131818
|
|
|
NM_004329.3(BMPR1A):c.1080T>C (p.His360=)
|
rs2133592946
|
|
|
NM_004329.3(BMPR1A):c.1089A>C (p.Leu363=)
|
rs863224393
|
|
|
NM_004329.3(BMPR1A):c.10C>T (p.Leu4=)
|
rs2133321068
|
|
|
NM_004329.3(BMPR1A):c.1104C>A (p.Ile368=)
|
|
|
|
NM_004329.3(BMPR1A):c.1107C>G (p.Leu369=)
|
rs761569881
|
|
|
NM_004329.3(BMPR1A):c.1107C>T (p.Leu369=)
|
rs761569881
|
|
|
NM_004329.3(BMPR1A):c.1119T>C (p.Asn373=)
|
rs1224219121
|
|
|
NM_004329.3(BMPR1A):c.1122G>A (p.Gly374=)
|
rs1589291806
|
|
|
NM_004329.3(BMPR1A):c.1141C>T (p.Leu381=)
|
rs864622566
|
|
|
NM_004329.3(BMPR1A):c.1146C>G (p.Gly382=)
|
rs786203626
|
|
|
NM_004329.3(BMPR1A):c.1155T>A (p.Val385=)
|
rs2539623858
|
|
|
NM_004329.3(BMPR1A):c.1166+3G>A
|
rs2133594431
|
|
|
NM_004329.3(BMPR1A):c.1167-13T>G
|
rs1057517581
|
|
|
NM_004329.3(BMPR1A):c.1170C>T (p.Asp390=)
|
|
|
|
NM_004329.3(BMPR1A):c.1176T>C (p.Asn392=)
|
rs1589292569
|
|
|
NM_004329.3(BMPR1A):c.117C>G (p.Ser39=)
|
rs757333646
|
|
|
NM_004329.3(BMPR1A):c.1188G>A (p.Val396=)
|
rs1843665086
|
|
|
NM_004329.3(BMPR1A):c.1194G>A (p.Leu398=)
|
|
|
|
NM_004329.3(BMPR1A):c.1212C>G (p.Thr404=)
|
rs2539636144
|
|
|
NM_004329.3(BMPR1A):c.1214A>G (p.Lys405Arg)
|
rs1064795593
|
|
|
NM_004329.3(BMPR1A):c.1215A>G (p.Lys405=)
|
rs587781522
|
|
|
NM_004329.3(BMPR1A):c.1218C>A (p.Arg406=)
|
|
|
|
NM_004329.3(BMPR1A):c.1230C>G (p.Pro410=)
|
rs200642188
|
|
|
NM_004329.3(BMPR1A):c.1249C>T (p.Leu417=)
|
rs1554891334
|
|
|
NM_004329.3(BMPR1A):c.1251G>A (p.Leu417=)
|
rs1554891336
|
|
|
NM_004329.3(BMPR1A):c.1263C>T (p.His421=)
|
rs1589292651
|
|
|
NM_004329.3(BMPR1A):c.126A>G (p.Lys42=)
|
rs773814289
|
|
|
NM_004329.3(BMPR1A):c.1272C>T (p.Pro424=)
|
|
|
|
NM_004329.3(BMPR1A):c.1287C>T (p.Asp429=)
|
rs777021606
|
|
|
NM_004329.3(BMPR1A):c.1290C>T (p.Ile430=)
|
rs2133608002
|
|
|
NM_004329.3(BMPR1A):c.1293C>T (p.Tyr431=)
|
rs1554891344
|
|
|
NM_004329.3(BMPR1A):c.1305A>G (p.Leu435=)
|
rs2133608266
|
|
|
NM_004329.3(BMPR1A):c.132A>C (p.Ser44=)
|
rs1554888111
|
|
|
NM_004329.3(BMPR1A):c.132A>G (p.Ser44=)
|
rs1554888111
|
|
|
NM_004329.3(BMPR1A):c.1342+3G>A
|
rs2133608987
|
|
|
NM_004329.3(BMPR1A):c.1347C>A (p.Ile449=)
|
rs1057520966
|
|
|
NM_004329.3(BMPR1A):c.1365G>A (p.Leu455=)
|
rs753694209
|
|
|
NM_004329.3(BMPR1A):c.1374C>T (p.Tyr458=)
|
rs1564725603
|
|
|
NM_004329.3(BMPR1A):c.1386G>A (p.Pro462=)
|
rs751815388
|
|
|
NM_004329.3(BMPR1A):c.1386G>C (p.Pro462=)
|
rs751815388
|
|
|
NM_004329.3(BMPR1A):c.1386G>T (p.Pro462=)
|
rs751815388
|
|
|
NM_004329.3(BMPR1A):c.1394del (p.Pro465fs)
|
rs2539648615
|
|
|
NM_004329.3(BMPR1A):c.1395G>A (p.Pro465=)
|
rs55845713
|
|
|
NM_004329.3(BMPR1A):c.1398A>G (p.Ser466=)
|
rs56410735
|
|
|
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr)
|
rs199476089
|
|
|
NM_004329.3(BMPR1A):c.1416G>A (p.Glu472=)
|
rs1410256559
|
|
|
NM_004329.3(BMPR1A):c.1422G>T (p.Val474=)
|
rs760220938
|
|
|
NM_004329.3(BMPR1A):c.1428C>A (p.Val476=)
|
rs1589293466
|
|
|
NM_004329.3(BMPR1A):c.1434T>A (p.Arg478=)
|
rs1057521680
|
|
|
NM_004329.3(BMPR1A):c.1435T>C (p.Leu479=)
|
rs1564725667
|
|
|
NM_004329.3(BMPR1A):c.1440G>C (p.Arg480=)
|
rs1564725678
|
|
|
NM_004329.3(BMPR1A):c.1446T>C (p.Ile482=)
|
rs1843696706
|
|
|
NM_004329.3(BMPR1A):c.1449G>T (p.Val483=)
|
rs759740989
|
|
|
NM_004329.3(BMPR1A):c.1473+3G>A
|
rs1589293539
|
|
|
NM_004329.3(BMPR1A):c.1473+6_1473+10dup
|
|
|
|
NM_004329.3(BMPR1A):c.1477C>T (p.Leu493=)
|
rs2133623926
|
|
|
NM_004329.3(BMPR1A):c.1485A>C (p.Ala495=)
|
rs2133624106
|
|
|
NM_004329.3(BMPR1A):c.148T>C (p.Leu50=)
|
rs964544915
|
|
|
NM_004329.3(BMPR1A):c.1515C>G (p.Ala505=)
|
rs1589293633
|
|
|
NM_004329.3(BMPR1A):c.1536C>A (p.Leu512=)
|
rs758796892
|
|
|
NM_004329.3(BMPR1A):c.1539A>G (p.Thr513=)
|
rs780244868
|
|
|
NM_004329.3(BMPR1A):c.1539A>T (p.Thr513=)
|
rs780244868
|
|
|
NM_004329.3(BMPR1A):c.153A>C (p.Ala51=)
|
rs2539431710
|
|
|
NM_004329.3(BMPR1A):c.153A>G (p.Ala51=)
|
rs2539431710
|
|
|
NM_004329.3(BMPR1A):c.1551T>A (p.Ile517=)
|
rs1471929511
|
|
|
NM_004329.3(BMPR1A):c.1560G>T (p.Thr520=)
|
rs142775086
|
|
|
NM_004329.3(BMPR1A):c.156A>G (p.Pro52=)
|
rs1589763398
|
|
|
NM_004329.3(BMPR1A):c.1596C>A (p.Ile532=)
|
rs201345248
|
|
|
NM_004329.3(BMPR1A):c.15C>T (p.Tyr5=)
|
rs1392086533
|
|
|
NM_004329.3(BMPR1A):c.162T>C (p.Asp54=)
|
rs2133395611
|
|
|
NM_004329.3(BMPR1A):c.165C>T (p.Thr55=)
|
|
|
|
NM_004329.3(BMPR1A):c.168G>A (p.Leu56=)
|
rs1589763414
|
|
|
NM_004329.3(BMPR1A):c.177A>G (p.Leu59=)
|
rs1030150137
|
|
|
NM_004329.3(BMPR1A):c.186T>C (p.Tyr62=)
|
rs2133396011
|
|
|
NM_004329.3(BMPR1A):c.195G>A (p.Gly65=)
|
rs765437517
|
|
|
NM_004329.3(BMPR1A):c.195G>C (p.Gly65=)
|
rs765437517
|
|
|
NM_004329.3(BMPR1A):c.204A>C (p.Pro68=)
|
rs1843128030
|
|
|
NM_004329.3(BMPR1A):c.207T>C (p.Asp69=)
|
rs2133396430
|
|
|
NM_004329.3(BMPR1A):c.210T>C (p.Asp70=)
|
rs1589763468
|
|
|
NM_004329.3(BMPR1A):c.21C>T (p.Tyr7=)
|
rs2133321194
|
|
|
NM_004329.3(BMPR1A):c.222C>T (p.Asn74=)
|
rs2133396713
|
|
|
NM_004329.3(BMPR1A):c.231-10del
|
rs747206781
|
|
|
NM_004329.3(BMPR1A):c.231-10dup
|
rs747206781
|
|
|
NM_004329.3(BMPR1A):c.240A>G (p.Gly80=)
|
rs1282223116
|
|
|
NM_004329.3(BMPR1A):c.240A>T (p.Gly80=)
|
rs1282223116
|
|
|
NM_004329.3(BMPR1A):c.246C>T (p.Cys82=)
|
rs759647230
|
|
|
NM_004329.3(BMPR1A):c.24C>T (p.Ile8=)
|
rs1554886810
|
|
|
NM_004329.3(BMPR1A):c.261A>G (p.Glu87=)
|
rs1564715455
|
|
|
NM_004329.3(BMPR1A):c.294A>G (p.Ser98=)
|
rs764466269
|
|
|
NM_004329.3(BMPR1A):c.297G>T (p.Gly99=)
|
rs1251509897
|
|
|
NM_004329.3(BMPR1A):c.300T>C (p.Cys100=)
|
rs754180012
|
|
|
NM_004329.3(BMPR1A):c.309T>C (p.Tyr103=)
|
rs876658891
|
|
|
NM_004329.3(BMPR1A):c.312A>G (p.Glu104=)
|
rs1199044872
|
|
|
NM_004329.3(BMPR1A):c.315A>C (p.Gly105=)
|
rs2133408970
|
|
|
NM_004329.3(BMPR1A):c.321T>C (p.Asp107=)
|
rs2539446592
|
|
|
NM_004329.3(BMPR1A):c.327G>A (p.Gln109=)
|
rs1589764339
|
|
|
NM_004329.3(BMPR1A):c.334-3T>C
|
rs1060503411
|
|
|
NM_004329.3(BMPR1A):c.336T>C (p.Asp112=)
|
|
|
|
NM_004329.3(BMPR1A):c.348C>T (p.Ala116=)
|
rs2133453411
|
|
|
NM_004329.3(BMPR1A):c.352C>T (p.Leu118=)
|
rs587782418
|
|
|
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys)
|
rs587782494
|
|
|
NM_004329.3(BMPR1A):c.363A>G (p.Thr121=)
|
rs2133453764
|
|
|
NM_004329.3(BMPR1A):c.366A>T (p.Ile122=)
|
rs1843280770
|
|
|
NM_004329.3(BMPR1A):c.375T>C (p.Cys125=)
|
rs1449209053
|
|
|
NM_004329.3(BMPR1A):c.390T>C (p.Cys130=)
|
rs2539490786
|
|
|
NM_004329.3(BMPR1A):c.396G>A (p.Gln132=)
|
rs1564717712
|
|
|
NM_004329.3(BMPR1A):c.399T>C (p.Tyr133=)
|
rs1843282106
|
|
|
NM_004329.3(BMPR1A):c.39C>G (p.Ala13=)
|
rs1554886813
|
|
|
NM_004329.3(BMPR1A):c.405A>G (p.Gln135=)
|
rs1589768073
|
|
|
NM_004329.3(BMPR1A):c.430+4G>A
|
rs777139606
|
|
|
NM_004329.3(BMPR1A):c.435G>T (p.Pro145=)
|
rs11818239
|
|
|
NM_004329.3(BMPR1A):c.43T>C (p.Leu15=)
|
rs1163803159
|
|
|
NM_004329.3(BMPR1A):c.447C>T (p.Gly149=)
|
rs1589768207
|
|
|
NM_004329.3(BMPR1A):c.456A>G (p.Arg152=)
|
rs2133456447
|
|
|
NM_004329.3(BMPR1A):c.486C>T (p.Val162=)
|
rs1843287389
|
|
|
NM_004329.3(BMPR1A):c.51C>T (p.Ile17=)
|
rs2539351000
|
|
|
NM_004329.3(BMPR1A):c.537T>C (p.Tyr179=)
|
rs1305949468
|
|
|
NM_004329.3(BMPR1A):c.543G>A (p.Lys181=)
|
rs2133543775
|
|
|
NM_004329.3(BMPR1A):c.546C>T (p.Ser182=)
|
rs2133543824
|
|
|
NM_004329.3(BMPR1A):c.549C>T (p.Ile183=)
|
rs748339701
|
|
|
NM_004329.3(BMPR1A):c.561T>C (p.Arg187=)
|
rs1843501884
|
|
|
NM_004329.3(BMPR1A):c.567C>T (p.Tyr189=)
|
rs1554890213
|
|
|
NM_004329.3(BMPR1A):c.579G>A (p.Leu193=)
|
rs1060503404
|
|
|
NM_004329.3(BMPR1A):c.591A>G (p.Glu197=)
|
rs2133544983
|
|
|
NM_004329.3(BMPR1A):c.603A>G (p.Pro201=)
|
rs2133545231
|
|
|
NM_004329.3(BMPR1A):c.642A>G (p.Gln214=)
|
|
|
|
NM_004329.3(BMPR1A):c.648T>C (p.Ser216=)
|
rs1060504905
|
|
|
NM_004329.3(BMPR1A):c.651T>C (p.Gly217=)
|
|
|
|
NM_004329.3(BMPR1A):c.654T>C (p.Ser218=)
|
rs1843504209
|
|
|
NM_004329.3(BMPR1A):c.657G>T (p.Gly219=)
|
rs2133546041
|
|
|
NM_004329.3(BMPR1A):c.663A>C (p.Gly221=)
|
rs1462920023
|
|
|
NM_004329.3(BMPR1A):c.693C>G (p.Ala231=)
|
rs1060504906
|
|
|
NM_004329.3(BMPR1A):c.693C>T (p.Ala231=)
|
rs1060504906
|
|
|
NM_004329.3(BMPR1A):c.69A>G (p.Gly23=)
|
rs780227469
|
|
|
NM_004329.3(BMPR1A):c.705G>A (p.Gln235=)
|
rs780907902
|
|
|
NM_004329.3(BMPR1A):c.711C>A (p.Val237=)
|
rs1554890747
|
|
|
NM_004329.3(BMPR1A):c.714G>A (p.Arg238=)
|
rs1554890752
|
|
|
NM_004329.3(BMPR1A):c.726A>G (p.Lys242=)
|
rs876659766
|
|
|
NM_004329.3(BMPR1A):c.729C>G (p.Gly243=)
|
rs770821763
|
|
|
NM_004329.3(BMPR1A):c.729C>T (p.Gly243=)
|
rs770821763
|
|
|
NM_004329.3(BMPR1A):c.735T>C (p.Tyr245=)
|
rs1131691182
|
|
|
NM_004329.3(BMPR1A):c.744A>G (p.Val248=)
|
rs1060504910
|
|
|
NM_004329.3(BMPR1A):c.76C>T (p.Leu26=)
|
rs2539429870
|
|
|
NM_004329.3(BMPR1A):c.81T>C (p.Asp27=)
|
rs1589763301
|
|
|
NM_004329.3(BMPR1A):c.828A>G (p.Glu276=)
|
rs1554890804
|
|
|
NM_004329.3(BMPR1A):c.834C>T (p.Tyr278=)
|
rs1230919713
|
|
|
NM_004329.3(BMPR1A):c.846A>G (p.Leu282=)
|
rs1843588559
|
|
|
NM_004329.3(BMPR1A):c.888T>C (p.Ile296=)
|
rs2133589202
|
|
|
NM_004329.3(BMPR1A):c.903C>G (p.Ser301=)
|
rs1843621876
|
|
|
NM_004329.3(BMPR1A):c.909T>C (p.Thr303=)
|
rs1554891026
|
|
|
NM_004329.3(BMPR1A):c.90T>C (p.Leu30=)
|
rs1564714758
|
|
|
NM_004329.3(BMPR1A):c.915C>T (p.Leu305=)
|
|
|
|
NM_004329.3(BMPR1A):c.933C>T (p.Tyr311=)
|
rs1554891035
|
|
|
NM_004329.3(BMPR1A):c.945A>G (p.Gly315=)
|
rs1843623133
|
|
|
NM_004329.3(BMPR1A):c.951C>G (p.Leu317=)
|
rs908671564
|
|
|
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)
|
rs587778111
|
|
|
NM_004329.3(BMPR1A):c.963G>A (p.Leu321=)
|
|
|
|
NM_004329.3(BMPR1A):c.96C>T (p.Gly32=)
|
rs781458073
|
|
|
NM_004329.3(BMPR1A):c.978G>A (p.Leu326=)
|
rs761040138
|
|
|
NM_004329.3(BMPR1A):c.984C>T (p.Thr328=)
|
rs981282948
|
|
|
NM_004329.3(BMPR1A):c.993G>A (p.Leu331=)
|
rs786202827
|
|
|
NM_004360.5(CDH1):c.1002C>T (p.Asp334=)
|
rs761981219
|
|
|
NM_004360.5(CDH1):c.1008+1G>T
|
rs1960844889
|
|
|
NM_004360.5(CDH1):c.1008+8G>T
|
rs990193541
|
|
|
NM_004360.5(CDH1):c.1008+8dup
|
rs1555515665
|
|
|
NM_004360.5(CDH1):c.1008G>A (p.Glu336=)
|
rs267606712
|
|
|
NM_004360.5(CDH1):c.1020G>T (p.Thr340=)
|
rs61747632
|
|
|
NM_004360.5(CDH1):c.1029G>T (p.Leu343=)
|
rs1597894681
|
|
|
NM_004360.5(CDH1):c.102C>G (p.Ala34=)
|
rs864622213
|
|
|
NM_004360.5(CDH1):c.102C>T (p.Ala34=)
|
rs864622213
|
|
|
NM_004360.5(CDH1):c.1032G>A (p.Val344=)
|
rs2152132524
|
|
|
NM_004360.5(CDH1):c.103G>T (p.Glu35Ter)
|
rs1597838625
|
|
|
NM_004360.5(CDH1):c.1041T>C (p.Ala347=)
|
rs1960855371
|
|
|
NM_004360.5(CDH1):c.1044T>C (p.Ala348=)
|
rs2152132555
|
|
|
NM_004360.5(CDH1):c.1056T>A (p.Gly352=)
|
rs876658922
|
|
|
NM_004360.5(CDH1):c.1057G>A (p.Glu353Lys)
|
rs876661091
|
|
|
NM_004360.5(CDH1):c.1059G>A (p.Glu353=)
|
rs537703872
|
|
|
NM_004360.5(CDH1):c.1062G>A (p.Gly354=)
|
rs1006997341
|
|
|
NM_004360.5(CDH1):c.1065A>G (p.Leu355=)
|
|
|
|
NM_004360.5(CDH1):c.1078del (p.Thr360fs)
|
rs2543924300
|
|
|
NM_004360.5(CDH1):c.1092A>C (p.Thr364=)
|
rs1960858246
|
|
|
NM_004360.5(CDH1):c.1104C>T (p.Thr368=)
|
rs1597894838
|
|
|
NM_004360.5(CDH1):c.1107C>T (p.Asn369=)
|
rs786201189
|
|
|
NM_004360.5(CDH1):c.1122C>A (p.Ile374=)
|
rs2152132700
|
|
|
NM_004360.5(CDH1):c.1128T>C (p.Asn376=)
|
rs1960860496
|
|
|
NM_004360.5(CDH1):c.1137+9A>G
|
rs780705655
|
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
|
NM_004360.5(CDH1):c.1138-15C>G
|
rs752733398
|
|
|
NM_004360.5(CDH1):c.1140C>T (p.Tyr380=)
|
rs2152133295
|
|
|
NM_004360.5(CDH1):c.1143G>A (p.Lys381=)
|
rs143727462
|
|
|
NM_004360.5(CDH1):c.114G>A (p.Thr38=)
|
rs786201492
|
|
|
NM_004360.5(CDH1):c.1170C>T (p.Asn390=)
|
rs766505270
|
|
|
NM_004360.5(CDH1):c.1179C>A (p.Ile393=)
|
rs2152133374
|
|
|
NM_004360.5(CDH1):c.1179C>T (p.Ile393=)
|
rs2152133374
|
|
|
NM_004360.5(CDH1):c.1182C>T (p.Thr394=)
|
rs2152133380
|
|
|
NM_004360.5(CDH1):c.1185A>C (p.Thr395=)
|
rs1190964498
|
|
|
NM_004360.5(CDH1):c.1186C>T (p.Leu396=)
|
rs1597895834
|
|
|
NM_004360.5(CDH1):c.1194G>A (p.Val398=)
|
rs1303655653
|
|
|
NM_004360.5(CDH1):c.120G>A (p.Thr40=)
|
rs786201115
|
|
|
NM_004360.5(CDH1):c.1212C>T (p.Pro404=)
|
rs2152133441
|
|
|
NM_004360.5(CDH1):c.1218C>T (p.Thr406=)
|
rs876659476
|
|
|
NM_004360.5(CDH1):c.1221A>C (p.Pro407=)
|
rs1555515894
|
|
|
NM_004360.5(CDH1):c.1224G>T (p.Ala408=)
|
rs200161607
|
|
|
NM_004360.5(CDH1):c.1230G>A (p.Glu410=)
|
rs876659952
|
|
|
NM_004360.5(CDH1):c.1236A>G (p.Val412=)
|
rs1198273516
|
|
|
NM_004360.5(CDH1):c.1254T>C (p.Asp418=)
|
rs1057520936
|
|
|
NM_004360.5(CDH1):c.1257T>C (p.Asp419=)
|
rs876658765
|
|
|
NM_004360.5(CDH1):c.1257TGG[1] (p.Gly421del)
|
rs775730054
|
|
|
NM_004360.5(CDH1):c.1260T>C (p.Gly420=)
|
rs1555515903
|
|
|
NM_004360.5(CDH1):c.1275C>T (p.Val425=)
|
rs1555515907
|
|
|
NM_004360.5(CDH1):c.1278C>T (p.Thr426=)
|
rs2152133592
|
|
|
NM_004360.5(CDH1):c.1287A>G (p.Pro429=)
|
|
|
|
NM_004360.5(CDH1):c.1290G>A (p.Val430=)
|
rs2152133615
|
|
|
NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)
|
rs1555509636
|
|
|
NM_004360.5(CDH1):c.1302C>T (p.Gly434=)
|
rs754580159
|
|
|
NM_004360.5(CDH1):c.1308G>A (p.Leu436=)
|
rs557551011
|
|
|
NM_004360.5(CDH1):c.1317A>G (p.Ala439=)
|
rs2152133668
|
|
|
NM_004360.5(CDH1):c.1320+1G>A
|
rs886039685
|
|
|
NM_004360.5(CDH1):c.1321-3T>C
|
rs2152134662
|
|
|
NM_004360.5(CDH1):c.1324T>C (p.Leu442=)
|
rs1555516075
|
|
|
NM_004360.5(CDH1):c.1347G>A (p.Gln449=)
|
rs2152134716
|
|
|
NM_004360.5(CDH1):c.1350C>T (p.Tyr450=)
|
rs2152134724
|
|
|
NM_004360.5(CDH1):c.1354C>T (p.Leu452=)
|
rs1597897808
|
|
|
NM_004360.5(CDH1):c.1356A>G (p.Leu452=)
|
rs61747633
|
|
|
NM_004360.5(CDH1):c.1362A>T (p.Val454=)
|
rs2152134754
|
|
|
NM_004360.5(CDH1):c.1368G>A (p.Val456=)
|
rs1555516103
|
|
|
NM_004360.5(CDH1):c.1374T>C (p.Asn458=)
|
rs786202640
|
|
|
NM_004360.5(CDH1):c.1380A>G (p.Val460=)
|
rs1597897867
|
|
|
NM_004360.5(CDH1):c.138G>A (p.Leu46=)
|
rs1567471510
|
|
|
NM_004360.5(CDH1):c.1392C>G (p.Val464=)
|
rs373811706
|
|
|
NM_004360.5(CDH1):c.1404C>G (p.Thr468=)
|
rs1555516122
|
|
|
NM_004360.5(CDH1):c.1404C>T (p.Thr468=)
|
rs1555516122
|
|
|
NM_004360.5(CDH1):c.1416C>G (p.Thr472=)
|
rs139937234
|
|
|
NM_004360.5(CDH1):c.1419C>T (p.Val473=)
|
rs1597897961
|
|
|
NM_004360.5(CDH1):c.1431G>A (p.Val477=)
|
rs2152134905
|
|
|
NM_004360.5(CDH1):c.1434G>A (p.Leu478=)
|
rs1960963649
|
|
|
NM_004360.5(CDH1):c.1434G>C (p.Leu478=)
|
rs1960963649
|
|
|
NM_004360.5(CDH1):c.1443T>C (p.Asn481=)
|
rs876658750
|
|
|
NM_004360.5(CDH1):c.1449C>T (p.Ala483=)
|
rs1960964572
|
|
|
NM_004360.5(CDH1):c.1452C>G (p.Pro484=)
|
rs1597898030
|
|
|
NM_004360.5(CDH1):c.1452C>T (p.Pro484=)
|
rs1597898030
|
|
|
NM_004360.5(CDH1):c.1455C>T (p.Ile485=)
|
rs786201613
|
|
|
NM_004360.5(CDH1):c.1464T>A (p.Pro488=)
|
rs876658378
|
|
|
NM_004360.5(CDH1):c.1479G>A (p.Val493=)
|
rs755157715
|
|
|
NM_004360.5(CDH1):c.1479G>C (p.Val493=)
|
rs755157715
|
|
|
NM_004360.5(CDH1):c.1494C>T (p.Asp498=)
|
rs56836234
|
|
|
NM_004360.5(CDH1):c.1497T>C (p.Phe499=)
|
rs878854678
|
|
|
NM_004360.5(CDH1):c.1509G>A (p.Gln503=)
|
rs876659548
|
|
|
NM_004360.5(CDH1):c.150C>G (p.Arg50=)
|
rs786201262
|
|
|
NM_004360.5(CDH1):c.150C>T (p.Arg50=)
|
rs786201262
|
|
|
NM_004360.5(CDH1):c.1521C>T (p.Ser507=)
|
rs149687235
|
|
|
NM_004360.5(CDH1):c.1524C>T (p.Tyr508=)
|
rs786201302
|
|
|
NM_004360.5(CDH1):c.1530C>T (p.Ala510=)
|
rs1597898262
|
|
|
NM_004360.5(CDH1):c.1536G>A (p.Glu512=)
|
rs1597898279
|
|
|
NM_004360.5(CDH1):c.153C>A (p.Val51=)
|
rs786201265
|
|
|
NM_004360.5(CDH1):c.153C>T (p.Val51=)
|
rs786201265
|
|
|
NM_004360.5(CDH1):c.1541_1565delinsTGTAGT (p.Asp514_Thr522delinsValTer)
|
rs2543931410
|
|
|
NM_004360.5(CDH1):c.1542C>T (p.Asp514=)
|
rs1555516187
|
|
|
NM_004360.5(CDH1):c.1545A>G (p.Thr515=)
|
rs2152135137
|
|
|
NM_004360.5(CDH1):c.154C>T (p.Leu52=)
|
rs374569322
|
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
|
NM_004360.5(CDH1):c.1565+1G>C
|
rs587780113
|
|
|
NM_004360.5(CDH1):c.1565+1G>T
|
rs587780113
|
|
|
NM_004360.5(CDH1):c.1565+1del
|
rs1064795267
|
|
|
NM_004360.5(CDH1):c.1565+2dup
|
rs1555516200
|
|
|
NM_004360.5(CDH1):c.1566-7del
|
rs1216887221
|
|
|
NM_004360.5(CDH1):c.1572G>T (p.Arg524=)
|
rs771419468
|
|
|
NM_004360.5(CDH1):c.1581A>G (p.Arg527=)
|
rs2152136765
|
|
|
NM_004360.5(CDH1):c.1590C>T (p.Ala530=)
|
rs786201805
|
|
|
NM_004360.5(CDH1):c.1593C>T (p.Asn531=)
|
rs1596960362
|
|
|
NM_004360.5(CDH1):c.1602G>A (p.Glu534=)
|
rs753031606
|
|
|
NM_004360.5(CDH1):c.1608T>C (p.Asn536=)
|
rs2543937320
|
|
|
NM_004360.5(CDH1):c.1623C>G (p.Ala541=)
|
rs376662384
|
|
|
NM_004360.5(CDH1):c.164-1G>A
|
rs1597884512
|
|
|
NM_004360.5(CDH1):c.1641G>A (p.Glu547=)
|
rs778565234
|
|
|
NM_004360.5(CDH1):c.1653G>A (p.Glu551=)
|
rs2152136921
|
|
|
NM_004360.5(CDH1):c.1659T>C (p.Phe553=)
|
rs1180742144
|
|
|
NM_004360.5(CDH1):c.1662G>A (p.Glu554=)
|
rs2152136943
|
|
|
NM_004360.5(CDH1):c.1665C>T (p.His555=)
|
rs559270110
|
|
|
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg)
|
rs746481984
|
|
|
NM_004360.5(CDH1):c.1680G>A (p.Thr560=)
|
rs35741240
|
|
|
NM_004360.5(CDH1):c.1680G>T (p.Thr560=)
|
rs35741240
|
|
|
NM_004360.5(CDH1):c.1686A>G (p.Thr562=)
|
rs2152136980
|
|
|
NM_004360.5(CDH1):c.1689C>A (p.Ala563=)
|
rs587780786
|
|
|
NM_004360.5(CDH1):c.1690C>T (p.Leu564=)
|
rs786201342
|
|
|
NM_004360.5(CDH1):c.1692A>C (p.Leu564=)
|
rs1060504168
|
|
|
NM_004360.5(CDH1):c.1692A>T (p.Leu564=)
|
rs1060504168
|
|
|
NM_004360.5(CDH1):c.1711+1G>A
|
rs886041161
|
|
|
NM_004360.5(CDH1):c.1711+1G>C
|
rs886041161
|
|
|
NM_004360.5(CDH1):c.1711+1dup
|
rs2152137028
|
|
|
NM_004360.5(CDH1):c.1712-8T>C
|
rs1060504172
|
|
|
NM_004360.5(CDH1):c.1716T>C (p.Ser572=)
|
rs876660176
|
|
|
NM_004360.5(CDH1):c.1719A>G (p.Pro573=)
|
rs1596963337
|
|
|
NM_004360.5(CDH1):c.1722T>C (p.Val574=)
|
rs1961156325
|
|
|
NM_004360.5(CDH1):c.1728T>C (p.Thr576=)
|
rs786203525
|
|
|
NM_004360.5(CDH1):c.1728T>G (p.Thr576=)
|
rs786203525
|
|
|
NM_004360.5(CDH1):c.1747C>T (p.Leu583=)
|
rs898744939
|
|
|
NM_004360.5(CDH1):c.1752C>A (p.Ile584=)
|
|
|
|
NM_004360.5(CDH1):c.1776C>T (p.Ala592=)
|
rs876660329
|
|
|
NM_004360.5(CDH1):c.1779C>T (p.Pro593=)
|
rs1596963500
|
|
|
NM_004360.5(CDH1):c.1795del (p.Thr599fs)
|
rs2543942324
|
|
|
NM_004360.5(CDH1):c.1803C>T (p.Phe601=)
|
|
|
|
NM_004360.5(CDH1):c.180C>T (p.Cys60=)
|
rs1555514402
|
|
|
NM_004360.5(CDH1):c.1821A>C (p.Pro607=)
|
rs1961162578
|
|
|
NM_004360.5(CDH1):c.1821A>T (p.Pro607=)
|
rs1961162578
|
|
|
NM_004360.5(CDH1):c.1830G>A (p.Gln610=)
|
rs1596963602
|
|
|
NM_004360.5(CDH1):c.183C>T (p.Thr61=)
|
rs575896144
|
|
|
NM_004360.5(CDH1):c.1860T>G (p.Pro620=)
|
rs786201329
|
|
|
NM_004360.5(CDH1):c.1869A>G (p.Thr623=)
|
rs786201138
|
|
|
NM_004360.5(CDH1):c.1872T>A (p.Ser624=)
|
rs876659970
|
|
|
NM_004360.5(CDH1):c.187C>A (p.Arg63=)
|
rs587783047
|
|
|
NM_004360.5(CDH1):c.1881A>G (p.Thr627=)
|
rs1060504176
|
|
|
NM_004360.5(CDH1):c.1887A>G (p.Glu629=)
|
rs886052236
|
|
|
NM_004360.5(CDH1):c.1890A>G (p.Leu630=)
|
|
|
|
NM_004360.5(CDH1):c.1895_1896del (p.His632fs)
|
rs1060501224
|
|
|
NM_004360.5(CDH1):c.1899G>C (p.Gly633=)
|
rs1961169875
|
|
|
NM_004360.5(CDH1):c.189A>C (p.Arg63=)
|
|
|
|
NM_004360.5(CDH1):c.189A>G (p.Arg63=)
|
rs2152126635
|
|
|
NM_004360.5(CDH1):c.18C>A (p.Arg6=)
|
rs786201300
|
|
|
NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)
|
rs121964878
|
|
|
NM_004360.5(CDH1):c.1917C>T (p.Thr639=)
|
rs1057522719
|
|
|
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)
|
rs587782750
|
|
|
NM_004360.5(CDH1):c.1936+3G>A
|
|
|
|
NM_004360.5(CDH1):c.1936+4G>A
|
rs864622365
|
|
|
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)
|
rs971882211
|
|
|
NM_004360.5(CDH1):c.1950C>T (p.Ile650=)
|
rs786202320
|
|
|
NM_004360.5(CDH1):c.195G>A (p.Arg65=)
|
rs1057522751
|
|
|
NM_004360.5(CDH1):c.1965G>A (p.Lys655=)
|
|
|
|
NM_004360.5(CDH1):c.1983T>C (p.Gly661=)
|
rs748114797
|
|
|
NM_004360.5(CDH1):c.1989C>T (p.Tyr663=)
|
rs2543945387
|
|
|
NM_004360.5(CDH1):c.1998T>C (p.Asn666=)
|
rs1167042883
|
|
|
NM_004360.5(CDH1):c.1A>G (p.Met1Val)
|
rs1555509622
|
|
|
NM_004360.5(CDH1):c.1A>T (p.Met1Leu)
|
rs1555509622
|
|
|
NM_004360.5(CDH1):c.2007C>T (p.Leu669=)
|
rs1596965732
|
|
|
NM_004360.5(CDH1):c.2041T>C (p.Leu681=)
|
rs1555517106
|
|
|
NM_004360.5(CDH1):c.2049C>T (p.Val683=)
|
rs2152139440
|
|
|
NM_004360.5(CDH1):c.2097G>A (p.Gln699=)
|
rs2152139545
|
|
|
NM_004360.5(CDH1):c.210C>T (p.Ser70=)
|
rs1597884617
|
|
|
NM_004360.5(CDH1):c.2113T>C (p.Leu705=)
|
rs369525438
|
|
|
NM_004360.5(CDH1):c.2124T>A (p.Pro708=)
|
rs786201660
|
|
|
NM_004360.5(CDH1):c.2124T>G (p.Pro708=)
|
|
|
|
NM_004360.5(CDH1):c.2133G>A (p.Leu711=)
|
rs2152139627
|
|
|
NM_004360.5(CDH1):c.2136G>A (p.Gly712=)
|
rs763402728
|
|
|
NM_004360.5(CDH1):c.213C>G (p.Leu71=)
|
rs376667778
|
|
|
NM_004360.5(CDH1):c.2151T>C (p.Ile717=)
|
rs1205147360
|
|
|
NM_004360.5(CDH1):c.2157T>C (p.Ala719=)
|
rs762224244
|
|
|
NM_004360.5(CDH1):c.2164+5G>A
|
rs2152139704
|
|
|
NM_004360.5(CDH1):c.2165-11dup
|
rs2152141349
|
|
|
NM_004360.5(CDH1):c.2165-1G>C
|
rs1385720097
|
|
|
NM_004360.5(CDH1):c.2165-1G>T
|
rs1385720097
|
|
|
NM_004360.5(CDH1):c.2165-2A>G
|
rs1596970624
|
|
|
NM_004360.5(CDH1):c.2165-5C>T
|
rs1567515317
|
|
|
NM_004360.5(CDH1):c.216C>T (p.Asp72=)
|
rs2152126685
|
|
|
NM_004360.5(CDH1):c.2178G>A (p.Leu726=)
|
rs751544748
|
|
|
NM_004360.5(CDH1):c.2181C>T (p.Leu727=)
|
rs781156061
|
|
|
NM_004360.5(CDH1):c.2182T>C (p.Leu728=)
|
rs2543953353
|
|
|
NM_004360.5(CDH1):c.2187G>C (p.Leu729=)
|
rs961833483
|
|
|
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)
|
rs1060501244
|
|
|
NM_004360.5(CDH1):c.2199G>A (p.Arg733=)
|
rs1555517637
|
|
|
NM_004360.5(CDH1):c.219C>A (p.Thr73=)
|
rs1567501098
|
|
|
NM_004360.5(CDH1):c.2205G>A (p.Ala735=)
|
rs138493551
|
|
|
NM_004360.5(CDH1):c.2205G>C (p.Ala735=)
|
rs138493551
|
|
|
NM_004360.5(CDH1):c.2208G>A (p.Val736=)
|
rs745899007
|
|
|
NM_004360.5(CDH1):c.2217G>A (p.Glu739=)
|
rs1596970771
|
|
|
NM_004360.5(CDH1):c.2220C>T (p.Pro740=)
|
rs1961376847
|
|
|
NM_004360.5(CDH1):c.2229C>G (p.Pro743=)
|
rs786203083
|
|
|
NM_004360.5(CDH1):c.2229C>T (p.Pro743=)
|
rs786203083
|
|
|
NM_004360.5(CDH1):c.2232A>G (p.Pro744=)
|
rs879026401
|
|
|
NM_004360.5(CDH1):c.2262C>T (p.Tyr754=)
|
rs1596970988
|
|
|
NM_004360.5(CDH1):c.2271A>G (p.Glu757=)
|
rs2152141556
|
|
|
NM_004360.5(CDH1):c.2282_2284del (p.Gly761del)
|
rs878854683
|
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
|
NM_004360.5(CDH1):c.228A>G (p.Lys76=)
|
|
|
|
NM_004360.5(CDH1):c.2295+3G>A
|
rs786203544
|
|
|
NM_004360.5(CDH1):c.2295+4G>A
|
rs1961384041
|
|
|
NM_004360.5(CDH1):c.2296-1G>A
|
rs1057517542
|
|
|
NM_004360.5(CDH1):c.2296-2A>G
|
rs876660393
|
|
|
NM_004360.5(CDH1):c.2296-3A>G
|
rs113067020
|
|
|
NM_004360.5(CDH1):c.2296-9dup
|
rs2543956594
|
|
|
NM_004360.5(CDH1):c.2298C>T (p.Asp766=)
|
rs1057523470
|
|
|
NM_004360.5(CDH1):c.2310C>T (p.Ser770=)
|
rs754162869
|
|
|
NM_004360.5(CDH1):c.2314C>T (p.Leu772=)
|
rs1961424604
|
|
|
NM_004360.5(CDH1):c.2316G>A (p.Leu772=)
|
rs1057523941
|
|
|
NM_004360.5(CDH1):c.231G>A (p.Val77=)
|
rs1446769308
|
|
|
NM_004360.5(CDH1):c.231G>T (p.Val77=)
|
rs1446769308
|
|
|
NM_004360.5(CDH1):c.2325C>A (p.Gly775=)
|
rs970542777
|
|
|
NM_004360.5(CDH1):c.2326C>T (p.Leu776=)
|
rs765299711
|
|
|
NM_004360.5(CDH1):c.2337G>C (p.Arg779=)
|
rs771292184
|
|
|
NM_004360.5(CDH1):c.2340T>C (p.Pro780=)
|
rs2152142296
|
|
|
NM_004360.5(CDH1):c.234C>T (p.Gly78=)
|
rs1060504174
|
|
|
NM_004360.5(CDH1):c.2352T>C (p.Arg784=)
|
rs768796172
|
|
|
NM_004360.5(CDH1):c.2367A>G (p.Pro789=)
|
rs2152142342
|
|
|
NM_004360.5(CDH1):c.2370C>A (p.Thr790=)
|
rs1596972620
|
|
|
NM_004360.5(CDH1):c.2370C>T (p.Thr790=)
|
rs1596972620
|
|
|
NM_004360.5(CDH1):c.237A>G (p.Thr79=)
|
rs1597884701
|
|
|
NM_004360.5(CDH1):c.2382C>T (p.Val794=)
|
rs786203579
|
|
|
NM_004360.5(CDH1):c.2386C>A (p.Arg796=)
|
rs777363517
|
|
|
NM_004360.5(CDH1):c.2388G>A (p.Arg796=)
|
rs1287819180
|
|
|
NM_004360.5(CDH1):c.2388G>T (p.Arg796=)
|
rs1287819180
|
|
|
NM_004360.5(CDH1):c.2400C>T (p.Arg800=)
|
rs786201718
|
|
|
NM_004360.5(CDH1):c.2416G>T (p.Glu806Ter)
|
rs376922615
|
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
|
NM_004360.5(CDH1):c.2443C>T (p.Leu815=)
|
rs2152143831
|
|
|
NM_004360.5(CDH1):c.244_248del (p.Val82fs)
|
rs2543904994
|
|
|
NM_004360.5(CDH1):c.2454T>C (p.Ala818=)
|
rs761471987
|
|
|
NM_004360.5(CDH1):c.2466C>T (p.Pro822=)
|
rs2152143868
|
|
|
NM_004360.5(CDH1):c.2469A>G (p.Thr823=)
|
rs2152143874
|
|
|
NM_004360.5(CDH1):c.246G>A (p.Val82=)
|
rs1597884733
|
|
|
NM_004360.5(CDH1):c.2472C>A (p.Ala824=)
|
rs1596976216
|
|
|
NM_004360.5(CDH1):c.2475G>A (p.Pro825=)
|
rs755658014
|
|
|
NM_004360.5(CDH1):c.2481T>C (p.Tyr827=)
|
rs767045364
|
|
|
NM_004360.5(CDH1):c.2487T>C (p.Ser829=)
|
rs1555518229
|
|
|
NM_004360.5(CDH1):c.2490G>A (p.Leu830=)
|
rs754360330
|
|
|
NM_004360.5(CDH1):c.2493C>A (p.Leu831=)
|
rs779267700
|
|
|
NM_004360.5(CDH1):c.2493C>G (p.Leu831=)
|
rs779267700
|
|
|
NM_004360.5(CDH1):c.2493C>T (p.Leu831=)
|
rs779267700
|
|
|
NM_004360.5(CDH1):c.2496G>A (p.Val832=)
|
rs2152143935
|
|
|
NM_004360.5(CDH1):c.2496G>C (p.Val832=)
|
rs2152143935
|
|
|
NM_004360.5(CDH1):c.249T>C (p.Ile83=)
|
rs878854687
|
|
|
NM_004360.5(CDH1):c.24C>T (p.Leu8=)
|
rs1057521296
|
|
|
NM_004360.5(CDH1):c.2517T>A (p.Gly839=)
|
rs2152143977
|
|
|
NM_004360.5(CDH1):c.2529T>C (p.Ala843=)
|
rs1596976414
|
|
|
NM_004360.5(CDH1):c.2535G>A (p.Leu845=)
|
rs144902472
|
|
|
NM_004360.5(CDH1):c.2541C>T (p.Ser847=)
|
rs147968870
|
|
|
NM_004360.5(CDH1):c.2544G>C (p.Leu848=)
|
rs2152144040
|
|
|
NM_004360.5(CDH1):c.2550C>G (p.Ser850=)
|
rs1057521295
|
|
|
NM_004360.5(CDH1):c.2553A>G (p.Ser851=)
|
rs1555518253
|
|
|
NM_004360.5(CDH1):c.2556G>A (p.Glu852=)
|
rs760315494
|
|
|
NM_004360.5(CDH1):c.255C>A (p.Val85=)
|
rs755461028
|
|
|
NM_004360.5(CDH1):c.255C>T (p.Val85=)
|
rs755461028
|
|
|
NM_004360.5(CDH1):c.2562C>T (p.Asp854=)
|
rs1172127740
|
|
|
NM_004360.5(CDH1):c.2580C>T (p.Asp860=)
|
rs2152144118
|
|
|
NM_004360.5(CDH1):c.258A>G (p.Lys86=)
|
rs2152126783
|
|
|
NM_004360.5(CDH1):c.2592A>G (p.Glu864=)
|
rs2152144154
|
|
|
NM_004360.5(CDH1):c.2598C>A (p.Gly866=)
|
rs1961543971
|
|
|
NM_004360.5(CDH1):c.2598C>T (p.Gly866=)
|
rs1961543971
|
|
|
NM_004360.5(CDH1):c.2601T>C (p.Asn867=)
|
rs2152144175
|
|
|
NM_004360.5(CDH1):c.2614C>T (p.Leu872=)
|
rs749203461
|
|
|
NM_004360.5(CDH1):c.2616G>A (p.Leu872=)
|
rs1596976693
|
|
|
NM_004360.5(CDH1):c.261G>A (p.Arg87=)
|
rs878854689
|
|
|
NM_004360.5(CDH1):c.2628C>T (p.Tyr876=)
|
rs778681919
|
|
|
NM_004360.5(CDH1):c.2631A>C (p.Gly877=)
|
rs1280792587
|
|
|
NM_004360.5(CDH1):c.2640G>A (p.Glu880=)
|
rs864622218
|
|
|
NM_004360.5(CDH1):c.2646C>T (p.Asp882=)
|
rs1555518315
|
|
|
NM_004360.5(CDH1):c.264T>C (p.Pro88=)
|
rs2152126798
|
|
|
NM_004360.5(CDH1):c.267A>G (p.Leu89=)
|
|
|
|
NM_004360.5(CDH1):c.291T>C (p.His97=)
|
rs2152126862
|
|
|
NM_004360.5(CDH1):c.297G>A (p.Leu99=)
|
rs876660223
|
|
|
NM_004360.5(CDH1):c.2T>C (p.Met1Thr)
|
rs1555509623
|
|
|
NM_004360.5(CDH1):c.2T>G (p.Met1Arg)
|
rs1555509623
|
|
|
NM_004360.5(CDH1):c.300C>G (p.Val100=)
|
rs786201463
|
|
|
NM_004360.5(CDH1):c.306C>A (p.Ala102=)
|
rs772779133
|
|
|
NM_004360.5(CDH1):c.30G>T (p.Ala10=)
|
rs1203525339
|
|
|
NM_004360.5(CDH1):c.31C>T (p.Leu11=)
|
rs2152113973
|
|
|
NM_004360.5(CDH1):c.327G>A (p.Lys109=)
|
rs1057522987
|
|
|
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup)
|
rs587782476
|
|
|
NM_004360.5(CDH1):c.336C>A (p.Thr112=)
|
rs876660703
|
|
|
NM_004360.5(CDH1):c.342C>G (p.Val114=)
|
rs1555514470
|
|
|
NM_004360.5(CDH1):c.346C>T (p.Leu116=)
|
rs1555514474
|
|
|
NM_004360.5(CDH1):c.351T>C (p.Asn117=)
|
rs1555514475
|
|
|
NM_004360.5(CDH1):c.372C>A (p.Arg124=)
|
rs786201511
|
|
|
NM_004360.5(CDH1):c.372C>G (p.Arg124=)
|
rs786201511
|
|
|
NM_004360.5(CDH1):c.372C>T (p.Arg124=)
|
rs786201511
|
|
|
NM_004360.5(CDH1):c.375C>T (p.Pro125=)
|
rs773044699
|
|
|
NM_004360.5(CDH1):c.381C>T (p.Pro127=)
|
rs62055766
|
|
|
NM_004360.5(CDH1):c.390C>G (p.Ala130=)
|
rs1555515177
|
|
|
NM_004360.5(CDH1):c.390C>T (p.Ala130=)
|
rs1555515177
|
|
|
NM_004360.5(CDH1):c.399T>G (p.Ser133=)
|
rs1801024
|
|
|
NM_004360.5(CDH1):c.3G>A (p.Met1Ile)
|
rs878854691
|
|
|
NM_004360.5(CDH1):c.408A>G (p.Gln136=)
|
rs1060501229
|
|
|
NM_004360.5(CDH1):c.417G>A (p.Leu139=)
|
rs1057521858
|
|
|
NM_004360.5(CDH1):c.420C>A (p.Leu140=)
|
rs763562818
|
|
|
NM_004360.5(CDH1):c.423A>G (p.Thr141=)
|
rs1597890499
|
|
|
NM_004360.5(CDH1):c.423A>T (p.Thr141=)
|
rs1597890499
|
|
|
NM_004360.5(CDH1):c.435C>T (p.Ser145=)
|
rs1060504177
|
|
|
NM_004360.5(CDH1):c.438T>C (p.Ser146=)
|
rs2152129677
|
|
|
NM_004360.5(CDH1):c.456G>A (p.Gln152=)
|
rs745589555
|
|
|
NM_004360.5(CDH1):c.45G>A (p.Leu15=)
|
rs746331438
|
|
|
NM_004360.5(CDH1):c.48+6_48+7delinsTG
|
rs786200947
|
|
|
NM_004360.5(CDH1):c.480C>T (p.Pro160=)
|
rs769371658
|
|
|
NM_004360.5(CDH1):c.483C>A (p.Ile161=)
|
rs779445240
|
|
|
NM_004360.5(CDH1):c.486C>T (p.Ser162=)
|
rs1555515219
|
|
|
NM_004360.5(CDH1):c.488G>C (p.Cys163Ser)
|
rs748783182
|
|
|
NM_004360.5(CDH1):c.489C>T (p.Cys163=)
|
rs1064794230
|
|
|
NM_004360.5(CDH1):c.49-16C>G
|
rs1057517618
|
|
|
NM_004360.5(CDH1):c.49-19T>C
|
rs1555509751
|
|
|
NM_004360.5(CDH1):c.49-2A>G
|
rs1060501226
|
|
|
NM_004360.5(CDH1):c.49-8del
|
rs1240151598
|
|
|
NM_004360.5(CDH1):c.49-8dup
|
rs1240151598
|
|
|
NM_004360.5(CDH1):c.510A>C (p.Pro170=)
|
rs774962542
|
|
|
NM_004360.5(CDH1):c.51C>T (p.Val17=)
|
rs1597838436
|
|
|
NM_004360.5(CDH1):c.525G>C (p.Leu175=)
|
rs1567504645
|
|
|
NM_004360.5(CDH1):c.528T>C (p.Val176=)
|
rs1555515230
|
|
|
NM_004360.5(CDH1):c.531+4G>A
|
rs1172442868
|
|
|
NM_004360.5(CDH1):c.532-1G>C
|
rs771085839
|
|
|
NM_004360.5(CDH1):c.532-9dup
|
rs1555515243
|
|
|
NM_004360.5(CDH1):c.540C>T (p.Ser180=)
|
rs1597890935
|
|
|
NM_004360.5(CDH1):c.546A>G (p.Lys182=)
|
rs201141645
|
|
|
NM_004360.5(CDH1):c.549C>T (p.Asp183=)
|
rs1567504746
|
|
|
NM_004360.5(CDH1):c.564T>C (p.Val188=)
|
rs2152130105
|
|
|
NM_004360.5(CDH1):c.576C>A (p.Ile192=)
|
rs2152130125
|
|
|
NM_004360.5(CDH1):c.588A>G (p.Gly196=)
|
rs1597891031
|
|
|
NM_004360.5(CDH1):c.600C>T (p.Pro200=)
|
rs973385466
|
|
|
NM_004360.5(CDH1):c.603T>C (p.Pro201=)
|
rs2152130170
|
|
|
NM_004360.5(CDH1):c.606T>C (p.Val202=)
|
rs2152130174
|
|
|
NM_004360.5(CDH1):c.609T>A (p.Gly203=)
|
rs1597891089
|
|
|
NM_004360.5(CDH1):c.612C>T (p.Val204=)
|
rs1555515273
|
|
|
NM_004360.5(CDH1):c.621T>C (p.Ile207=)
|
rs1597891129
|
|
|
NM_004360.5(CDH1):c.63C>G (p.Leu21=)
|
|
|
|
NM_004360.5(CDH1):c.63C>T (p.Leu21=)
|
rs1212723972
|
|
|
NM_004360.5(CDH1):c.645G>A (p.Lys215=)
|
rs2152130244
|
|
|
NM_004360.5(CDH1):c.651A>G (p.Thr217=)
|
rs2152130262
|
|
|
NM_004360.5(CDH1):c.654G>A (p.Glu218=)
|
rs1356763082
|
|
|
NM_004360.5(CDH1):c.656del (p.Pro219fs)
|
rs1555515284
|
|
|
NM_004360.5(CDH1):c.660G>A (p.Leu220=)
|
rs747484647
|
|
|
NM_004360.5(CDH1):c.66C>T (p.Cys22=)
|
rs865838543
|
|
|
NM_004360.5(CDH1):c.684C>T (p.Tyr228=)
|
rs1960744183
|
|
|
NM_004360.5(CDH1):c.687+1G>A
|
rs1567504977
|
|
|
NM_004360.5(CDH1):c.687+1G>C
|
rs1567504977
|
|
|
NM_004360.5(CDH1):c.690C>T (p.Leu230=)
|
rs863224397
|
|
|
NM_004360.5(CDH1):c.693C>T (p.Phe231=)
|
rs2152130994
|
|
|
NM_004360.5(CDH1):c.69G>A (p.Gln23=)
|
rs786202657
|
|
|
NM_004360.5(CDH1):c.6C>T (p.Gly2=)
|
rs786201283
|
|
|
NM_004360.5(CDH1):c.708A>C (p.Ser236=)
|
rs863224398
|
|
|
NM_004360.5(CDH1):c.708A>G (p.Ser236=)
|
rs863224398
|
|
|
NM_004360.5(CDH1):c.711C>A (p.Ser237=)
|
rs1597892308
|
|
|
NM_004360.5(CDH1):c.711C>G (p.Ser237=)
|
rs1597892308
|
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
|
NM_004360.5(CDH1):c.717G>A (p.Gly239=)
|
rs749491453
|
|
|
NM_004360.5(CDH1):c.720T>C (p.Asn240=)
|
rs2152131034
|
|
|
NM_004360.5(CDH1):c.720del (p.Asn240fs)
|
rs1131690819
|
|
|
NM_004360.5(CDH1):c.723A>T (p.Ala241=)
|
rs768781036
|
|
|
NM_004360.5(CDH1):c.759C>A (p.Thr253=)
|
rs372934565
|
|
|
NM_004360.5(CDH1):c.75G>A (p.Pro25=)
|
rs786202428
|
|
|
NM_004360.5(CDH1):c.786C>T (p.Phe262=)
|
rs876658994
|
|
|
NM_004360.5(CDH1):c.789C>G (p.Thr263=)
|
rs1555515457
|
|
|
NM_004360.5(CDH1):c.792G>A (p.Gln264=)
|
|
|
|
NM_004360.5(CDH1):c.813C>G (p.Val271=)
|
rs1300078492
|
|
|
NM_004360.5(CDH1):c.828T>C (p.Leu276=)
|
rs2152131206
|
|
|
NM_004360.5(CDH1):c.832+1G>A
|
rs878854697
|
|
|
NM_004360.5(CDH1):c.832+1G>T
|
rs878854697
|
|
|
NM_004360.5(CDH1):c.832+4T>A
|
rs1555515470
|
|
|
NM_004360.5(CDH1):c.832+5A>G
|
rs756521764
|
|
|
NM_004360.5(CDH1):c.833-2A>G
|
rs1555515596
|
|
|
NM_004360.5(CDH1):c.834A>G (p.Gly278=)
|
rs1597893922
|
|
|
NM_004360.5(CDH1):c.837C>T (p.Thr279=)
|
rs1364692858
|
|
|
NM_004360.5(CDH1):c.840T>A (p.Ser280=)
|
rs2152131883
|
|
|
NM_004360.5(CDH1):c.861A>G (p.Thr287=)
|
rs1597893981
|
|
|
NM_004360.5(CDH1):c.864C>T (p.Asp288=)
|
rs1057520804
|
|
|
NM_004360.5(CDH1):c.873T>C (p.Asp291=)
|
rs786202039
|
|
|
NM_004360.5(CDH1):c.87C>T (p.His29=)
|
rs1555509762
|
|
|
NM_004360.5(CDH1):c.885C>G (p.Thr295=)
|
rs1555515612
|
|
|
NM_004360.5(CDH1):c.894C>A (p.Ala298=)
|
rs139110184
|
|
|
NM_004360.5(CDH1):c.903T>C (p.Ala301=)
|
rs2152131987
|
|
|
NM_004360.5(CDH1):c.909C>T (p.Thr303=)
|
rs786202408
|
|
|
NM_004360.5(CDH1):c.90T>C (p.Pro30=)
|
rs1555509766
|
|
|
NM_004360.5(CDH1):c.90T>G (p.Pro30=)
|
rs1555509766
|
|
|
NM_004360.5(CDH1):c.915C>T (p.Leu305=)
|
rs1057522178
|
|
|
NM_004360.5(CDH1):c.921A>G (p.Gln307=)
|
rs876660221
|
|
|
NM_004360.5(CDH1):c.924T>C (p.Asp308=)
|
rs1555515629
|
|
|
NM_004360.5(CDH1):c.927T>C (p.Pro309=)
|
rs1597894149
|
|
|
NM_004360.5(CDH1):c.927T>G (p.Pro309=)
|
rs1597894149
|
|
|
NM_004360.5(CDH1):c.933C>T (p.Leu311=)
|
rs35539711
|
|
|
NM_004360.5(CDH1):c.936T>C (p.Pro312=)
|
|
|
|
NM_004360.5(CDH1):c.960C>T (p.Asn320=)
|
rs1555515647
|
|
|
NM_004360.5(CDH1):c.966C>T (p.Asn322=)
|
rs1555515654
|
|
|
NM_004360.5(CDH1):c.969A>G (p.Thr323=)
|
rs1567506753
|
|
|
NM_004360.5(CDH1):c.984G>A (p.Val328=)
|
rs1960843053
|
|
|
NM_004360.5(CDH1):c.990C>G (p.Thr330=)
|
rs786203728
|
|
|
NM_004360.5(CDH1):c.996G>A (p.Gly332=)
|
rs876658414
|
|
|
NM_004360.5(CDH1):c.996G>C (p.Gly332=)
|
rs876658414
|
|
|
NM_004646.3(NPHS1):c.1758-8_1785del
|
rs386833891
|
|
|
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys)
|
rs143092783
|
|
|
NM_004646.4(NPHS1):c.3554del (p.Pro1185fs)
|
rs750714387
|
|
|
NM_004646.4(NPHS1):c.398-1G>A
|
rs386833942
|
|
|
NM_004655.4(AXIN2):c.1026G>A (p.Lys342=)
|
rs1060504489
|
|
|
NM_004655.4(AXIN2):c.1032T>C (p.Asn344=)
|
rs2144500062
|
|
|
NM_004655.4(AXIN2):c.1047A>G (p.Leu349=)
|
rs2144499878
|
|
|
NM_004655.4(AXIN2):c.105G>T (p.Pro35=)
|
rs1060504491
|
|
|
NM_004655.4(AXIN2):c.1060-3T>C
|
rs2043981901
|
|
|
NM_004655.4(AXIN2):c.1065C>T (p.Thr355=)
|
rs201451100
|
|
|
NM_004655.4(AXIN2):c.1071C>T (p.Arg357=)
|
|
|
|
NM_004655.4(AXIN2):c.1074G>C (p.Leu358=)
|
rs1336532585
|
|
|
NM_004655.4(AXIN2):c.1089C>T (p.Thr363=)
|
rs748698260
|
|
|
NM_004655.4(AXIN2):c.1098A>G (p.Glu366=)
|
rs761105129
|
|
|
NM_004655.4(AXIN2):c.1104C>T (p.Ala368=)
|
rs2144477944
|
|
|
NM_004655.4(AXIN2):c.1107C>A (p.Thr369=)
|
rs1177671049
|
|
|
NM_004655.4(AXIN2):c.1107C>T (p.Thr369=)
|
rs1177671049
|
|
|
NM_004655.4(AXIN2):c.1110T>C (p.Phe370=)
|
rs1405139649
|
|
|
NM_004655.4(AXIN2):c.1113A>G (p.Ala371=)
|
rs2144477713
|
|
|
NM_004655.4(AXIN2):c.1128G>A (p.Ser376=)
|
rs2144477422
|
|
|
NM_004655.4(AXIN2):c.1128G>C (p.Ser376=)
|
rs2144477422
|
|
|
NM_004655.4(AXIN2):c.1134G>A (p.Leu378=)
|
rs1380265124
|
|
|
NM_004655.4(AXIN2):c.1140G>A (p.Lys380=)
|
|
|
|
NM_004655.4(AXIN2):c.1143G>T (p.Leu381=)
|
rs1567757423
|
|
|
NM_004655.4(AXIN2):c.114A>G (p.Pro38=)
|
rs2144590869
|
|
|
NM_004655.4(AXIN2):c.1155G>A (p.Leu385=)
|
rs1003920705
|
|
|
NM_004655.4(AXIN2):c.1164C>A (p.Arg388=)
|
rs781122679
|
|
|
NM_004655.4(AXIN2):c.1167C>T (p.His389=)
|
rs2043978734
|
|
|
NM_004655.4(AXIN2):c.1179G>A (p.Glu393=)
|
rs922684515
|
|
|
NM_004655.4(AXIN2):c.117G>A (p.Gly39=)
|
rs2044310171
|
|
|
NM_004655.4(AXIN2):c.117G>T (p.Gly39=)
|
rs2044310171
|
|
|
NM_004655.4(AXIN2):c.1182C>T (p.Arg394=)
|
rs2544181681
|
|
|
NM_004655.4(AXIN2):c.1185G>A (p.Leu395=)
|
rs2043977790
|
|
|
NM_004655.4(AXIN2):c.1194C>A (p.Ile398=)
|
rs948958592
|
|
|
NM_004655.4(AXIN2):c.1195C>A (p.Arg399=)
|
rs1157452251
|
|
|
NM_004655.4(AXIN2):c.1206A>G (p.Glu402=)
|
rs746253101
|
|
|
NM_004655.4(AXIN2):c.120G>A (p.Val40=)
|
rs2144590786
|
|
|
NM_004655.4(AXIN2):c.120G>T (p.Val40=)
|
rs2144590786
|
|
|
NM_004655.4(AXIN2):c.1218C>A (p.Gly406=)
|
rs1264541488
|
|
|
NM_004655.4(AXIN2):c.1221C>T (p.Ser407=)
|
rs1000980201
|
|
|
NM_004655.4(AXIN2):c.1224G>A (p.Glu408=)
|
rs2509418376
|
|
|
NM_004655.4(AXIN2):c.1230A>G (p.Thr410=)
|
rs778125851
|
|
|
NM_004655.4(AXIN2):c.1233C>G (p.Leu411=)
|
rs747555966
|
|
|
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser)
|
rs115931022
|
|
|
NM_004655.4(AXIN2):c.1251G>A (p.Ala417=)
|
rs557397475
|
|
|
NM_004655.4(AXIN2):c.1254C>T (p.Pro418=)
|
rs1425499560
|
|
|
NM_004655.4(AXIN2):c.1257G>T (p.Thr419=)
|
rs1415397819
|
|
|
NM_004655.4(AXIN2):c.1260G>A (p.Gln420=)
|
rs771340546
|
|
|
NM_004655.4(AXIN2):c.1263C>T (p.His421=)
|
rs763220028
|
|
|
NM_004655.4(AXIN2):c.1266C>A (p.Pro422=)
|
rs773785363
|
|
|
NM_004655.4(AXIN2):c.126G>A (p.Lys42=)
|
rs1555583730
|
|
|
NM_004655.4(AXIN2):c.1272C>T (p.Ser424=)
|
rs768259872
|
|
|
NM_004655.4(AXIN2):c.1275A>G (p.Leu425=)
|
rs758219268
|
|
|
NM_004655.4(AXIN2):c.1278G>A (p.Leu426=)
|
rs2144466921
|
|
|
NM_004655.4(AXIN2):c.1281C>T (p.Pro427=)
|
rs903366422
|
|
|
NM_004655.4(AXIN2):c.129C>T (p.Gly43=)
|
rs878854720
|
|
|
NM_004655.4(AXIN2):c.12T>C (p.Ala4=)
|
rs1598120479
|
|
|
NM_004655.4(AXIN2):c.1305G>T (p.Pro435=)
|
rs369221405
|
|
|
NM_004655.4(AXIN2):c.1311G>A (p.Thr437=)
|
rs1555578002
|
|
|
NM_004655.4(AXIN2):c.1311G>C (p.Thr437=)
|
rs1555578002
|
|
|
NM_004655.4(AXIN2):c.1311G>T (p.Thr437=)
|
rs1555578002
|
|
|
NM_004655.4(AXIN2):c.1317G>A (p.Leu439=)
|
rs763400320
|
|
|
NM_004655.4(AXIN2):c.1326C>T (p.His442=)
|
rs1555577987
|
|
|
NM_004655.4(AXIN2):c.1335G>A (p.Arg445=)
|
rs2144465684
|
|
|
NM_004655.4(AXIN2):c.1338C>A (p.Val446=)
|
rs369864600
|
|
|
NM_004655.4(AXIN2):c.1338C>T (p.Val446=)
|
rs369864600
|
|
|
NM_004655.4(AXIN2):c.1341C>G (p.Leu447=)
|
rs2144465433
|
|
|
NM_004655.4(AXIN2):c.1341C>T (p.Leu447=)
|
rs2144465433
|
|
|
NM_004655.4(AXIN2):c.1344G>A (p.Lys448=)
|
rs2144465376
|
|
|
NM_004655.4(AXIN2):c.1347C>T (p.Thr449=)
|
rs762279806
|
|
|
NM_004655.4(AXIN2):c.1350T>G (p.Pro450=)
|
rs1555577970
|
|
|
NM_004655.4(AXIN2):c.1365A>T (p.Pro455=)
|
rs9915936
|
|
|
NM_004655.4(AXIN2):c.1371A>G (p.Val457=)
|
rs757050940
|
|
|
NM_004655.4(AXIN2):c.1374C>G (p.Gly458=)
|
rs1555577948
|
|
|
NM_004655.4(AXIN2):c.1377C>G (p.Arg459=)
|
rs1567756229
|
|
|
NM_004655.4(AXIN2):c.1392C>A (p.Ser464=)
|
rs1425878510
|
|
|
NM_004655.4(AXIN2):c.1392C>T (p.Ser464=)
|
rs1425878510
|
|
|
NM_004655.4(AXIN2):c.1398C>A (p.Ser466=)
|
rs760282693
|
|
|
NM_004655.4(AXIN2):c.1398C>G (p.Ser466=)
|
rs760282693
|
|
|
NM_004655.4(AXIN2):c.1398C>T (p.Ser466=)
|
rs760282693
|
|
|
NM_004655.4(AXIN2):c.1401G>T (p.Pro467=)
|
rs771579039
|
|
|
NM_004655.4(AXIN2):c.1404C>T (p.Asp468=)
|
rs2144463784
|
|
|
NM_004655.4(AXIN2):c.1425G>A (p.Ser475=)
|
rs1321803175
|
|
|
NM_004655.4(AXIN2):c.1428G>A (p.Gln476=)
|
rs1285545891
|
|
|
NM_004655.4(AXIN2):c.1437C>G (p.Ser479=)
|
rs1287699534
|
|
|
NM_004655.4(AXIN2):c.1438C>T (p.Leu480=)
|
rs1060504490
|
|
|
NM_004655.4(AXIN2):c.1440G>A (p.Leu480=)
|
rs2043953695
|
|
|
NM_004655.4(AXIN2):c.1443C>T (p.Leu481=)
|
rs886053272
|
|
|
NM_004655.4(AXIN2):c.1446G>T (p.Pro482=)
|
rs750678891
|
|
|
NM_004655.4(AXIN2):c.1449C>T (p.Pro483=)
|
rs765434564
|
|
|
NM_004655.4(AXIN2):c.1455C>T (p.Gly485=)
|
rs2509414655
|
|
|
NM_004655.4(AXIN2):c.1467C>A (p.Pro489=)
|
rs1199756577
|
|
|
NM_004655.4(AXIN2):c.1470G>A (p.Ala490=)
|
rs1060502143
|
|
|
NM_004655.4(AXIN2):c.1474_1492del (p.Ala492fs)
|
rs2509414042
|
|
|
NM_004655.4(AXIN2):c.1479G>T (p.Ser493=)
|
rs1057522399
|
|
|
NM_004655.4(AXIN2):c.1512C>T (p.Gly504=)
|
rs1555577745
|
|
|
NM_004655.4(AXIN2):c.1521C>G (p.Thr507=)
|
rs1317740172
|
|
|
NM_004655.4(AXIN2):c.1536G>A (p.Lys512=)
|
rs1235854145
|
|
|
NM_004655.4(AXIN2):c.1539T>C (p.His513=)
|
rs2144460041
|
|
|
NM_004655.4(AXIN2):c.153C>G (p.Val51=)
|
rs763946063
|
|
|
NM_004655.4(AXIN2):c.153C>T (p.Val51=)
|
rs763946063
|
|
|
NM_004655.4(AXIN2):c.1542C>G (p.Val514=)
|
rs2144459978
|
|
|
NM_004655.4(AXIN2):c.1548C>T (p.His516=)
|
rs1598098830
|
|
|
NM_004655.4(AXIN2):c.1554C>T (p.Tyr518=)
|
rs2043949599
|
|
|
NM_004655.4(AXIN2):c.1557C>A (p.Ile519=)
|
rs374444786
|
|
|
NM_004655.4(AXIN2):c.1560C>T (p.His520=)
|
rs1598098799
|
|
|
NM_004655.4(AXIN2):c.1563C>T (p.His521=)
|
rs2144459269
|
|
|
NM_004655.4(AXIN2):c.1566T>C (p.His522=)
|
rs2509412978
|
|
|
NM_004655.4(AXIN2):c.1569C>G (p.Ala523=)
|
rs745968863
|
|
|
NM_004655.4(AXIN2):c.1572C>T (p.Val524=)
|
rs1567755682
|
|
|
NM_004655.4(AXIN2):c.1575C>G (p.Pro525=)
|
rs1598098758
|
|
|
NM_004655.4(AXIN2):c.1575C>T (p.Pro525=)
|
rs1598098758
|
|
|
NM_004655.4(AXIN2):c.1578G>A (p.Lys526=)
|
rs1555577678
|
|
|
NM_004655.4(AXIN2):c.1590G>A (p.Glu530=)
|
rs2144458605
|
|
|
NM_004655.4(AXIN2):c.1593C>A (p.Ile531=)
|
|
|
|
NM_004655.4(AXIN2):c.1608G>A (p.Thr536=)
|
rs1403070766
|
|
|
NM_004655.4(AXIN2):c.1626C>T (p.Phe542=)
|
rs1040027666
|
|
|
NM_004655.4(AXIN2):c.1629C>T (p.Cys543=)
|
rs1555577636
|
|
|
NM_004655.4(AXIN2):c.162C>T (p.Asn54=)
|
rs1427989179
|
|
|
NM_004655.4(AXIN2):c.1635G>C (p.Gly545=)
|
rs778710067
|
|
|
NM_004655.4(AXIN2):c.1638C>T (p.Gly546=)
|
rs2144457304
|
|
|
NM_004655.4(AXIN2):c.1659G>A (p.Ser553=)
|
rs967153637
|
|
|
NM_004655.4(AXIN2):c.165C>G (p.Thr55=)
|
rs1417465644
|
|
|
NM_004655.4(AXIN2):c.1668A>G (p.Lys556=)
|
|
|
|
NM_004655.4(AXIN2):c.166A>C (p.Arg56=)
|
rs1431601772
|
|
|
NM_004655.4(AXIN2):c.1686G>A (p.Pro562=)
|
rs969426606
|
|
|
NM_004655.4(AXIN2):c.1698C>T (p.Pro566=)
|
rs1060504484
|
|
|
NM_004655.4(AXIN2):c.169C>A (p.Arg57=)
|
rs1555583686
|
|
|
NM_004655.4(AXIN2):c.16T>C (p.Leu6=)
|
rs2144592326
|
|
|
NM_004655.4(AXIN2):c.1716C>T (p.Gly572=)
|
rs2509409153
|
|
|
NM_004655.4(AXIN2):c.171G>A (p.Arg57=)
|
rs1308077533
|
|
|
NM_004655.4(AXIN2):c.1725C>G (p.Gly575=)
|
rs2043937249
|
|
|
NM_004655.4(AXIN2):c.1728T>C (p.Ser576=)
|
rs2144452082
|
|
|
NM_004655.4(AXIN2):c.1734G>A (p.Leu578=)
|
rs775673863
|
|
|
NM_004655.4(AXIN2):c.1737C>T (p.Pro579=)
|
rs2144451775
|
|
|
NM_004655.4(AXIN2):c.1740A>G (p.Lys580=)
|
rs2043936895
|
|
|
NM_004655.4(AXIN2):c.1743C>T (p.Arg581=)
|
rs774932064
|
|
|
NM_004655.4(AXIN2):c.1746T>C (p.Asn582=)
|
rs1555577456
|
|
|
NM_004655.4(AXIN2):c.174C>T (p.Asn58=)
|
rs763012548
|
|
|
NM_004655.4(AXIN2):c.1764G>A (p.Pro588=)
|
rs1437268396
|
|
|
NM_004655.4(AXIN2):c.1768C>T (p.Leu590=)
|
rs1344737332
|
|
|
NM_004655.4(AXIN2):c.1773C>A (p.Ala591=)
|
rs1413003297
|
|
|
NM_004655.4(AXIN2):c.1774C>T (p.Leu592=)
|
rs1159551938
|
|
|
NM_004655.4(AXIN2):c.1782C>T (p.Ala594=)
|
rs2509408181
|
|
|
NM_004655.4(AXIN2):c.1809T>C (p.Ala603=)
|
rs774539942
|
|
|
NM_004655.4(AXIN2):c.1809T>G (p.Ala603=)
|
rs774539942
|
|
|
NM_004655.4(AXIN2):c.1812G>A (p.Gly604=)
|
rs1555577413
|
|
|
NM_004655.4(AXIN2):c.1816C>T (p.Leu606=)
|
rs1057522718
|
|
|
NM_004655.4(AXIN2):c.1818G>A (p.Leu606=)
|
rs1189712284
|
|
|
NM_004655.4(AXIN2):c.1842C>T (p.Asp614=)
|
rs373339394
|
|
|
NM_004655.4(AXIN2):c.1848G>C (p.Ser616=)
|
rs1362072020
|
|
|
NM_004655.4(AXIN2):c.1857C>G (p.Val619=)
|
rs756196500
|
|
|
NM_004655.4(AXIN2):c.1857C>T (p.Val619=)
|
rs756196500
|
|
|
NM_004655.4(AXIN2):c.1870C>T (p.Leu624=)
|
rs2144448788
|
|
|
NM_004655.4(AXIN2):c.1872G>A (p.Leu624=)
|
rs1598097741
|
|
|
NM_004655.4(AXIN2):c.1884G>A (p.Arg628=)
|
rs1307368931
|
|
|
NM_004655.4(AXIN2):c.1893G>A (p.Lys631=)
|
rs761440645
|
|
|
NM_004655.4(AXIN2):c.1902C>G (p.Pro634=)
|
rs1168312455
|
|
|
NM_004655.4(AXIN2):c.1907+6C>T
|
rs1555577337
|
|
|
NM_004655.4(AXIN2):c.1908-3T>C
|
rs1287639468
|
|
|
NM_004655.4(AXIN2):c.1911C>A (p.Ala637=)
|
|
|
|
NM_004655.4(AXIN2):c.1911C>T (p.Ala637=)
|
rs1555577233
|
|
|
NM_004655.4(AXIN2):c.1926G>A (p.Lys642=)
|
rs2043921696
|
|
|
NM_004655.4(AXIN2):c.1935C>T (p.Pro645=)
|
rs2144443906
|
|
|
NM_004655.4(AXIN2):c.1936T>C (p.Leu646=)
|
rs1598097114
|
|
|
NM_004655.4(AXIN2):c.1944T>C (p.Ser648=)
|
rs1598097101
|
|
|
NM_004655.4(AXIN2):c.1950C>A (p.Arg650=)
|
rs1236721857
|
|
|
NM_004655.4(AXIN2):c.1953G>A (p.Ser651=)
|
rs372086777
|
|
|
NM_004655.4(AXIN2):c.1962C>T (p.Gly654=)
|
rs377642903
|
|
|
NM_004655.4(AXIN2):c.1971C>T (p.Ala657=)
|
rs754480214
|
|
|
NM_004655.4(AXIN2):c.1980C>T (p.His660=)
|
rs1598097031
|
|
|
NM_004655.4(AXIN2):c.1984C>T (p.Leu662=)
|
|
|
|
NM_004655.4(AXIN2):c.1986G>A (p.Leu662=)
|
rs1057520705
|
|
|
NM_004655.4(AXIN2):c.1986G>T (p.Leu662=)
|
rs1057520705
|
|
|
NM_004655.4(AXIN2):c.1988G>A (p.Trp663Ter)
|
rs761870581
|
|
|
NM_004655.4(AXIN2):c.1992G>A (p.Gly664=)
|
rs776430866
|
|
|
NM_004655.4(AXIN2):c.1998C>T (p.Asn666=)
|
rs1460508423
|
|
|
NM_004655.4(AXIN2):c.2007C>T (p.His669=)
|
rs756419208
|
|
|
NM_004655.4(AXIN2):c.2016C>A (p.Thr672=)
|
rs1358201134
|
|
|
NM_004655.4(AXIN2):c.2019C>A (p.Thr673=)
|
rs1450619354
|
|
|
NM_004655.4(AXIN2):c.201G>A (p.Gly67=)
|
rs1303253199
|
|
|
NM_004655.4(AXIN2):c.2022C>T (p.Pro674=)
|
rs556551269
|
|
|
NM_004655.4(AXIN2):c.2028C>T (p.Ala676=)
|
rs1598096818
|
|
|
NM_004655.4(AXIN2):c.2031C>T (p.His677=)
|
rs1555577104
|
|
|
NM_004655.4(AXIN2):c.2032C>T (p.Leu678=)
|
rs2043917337
|
|
|
NM_004655.4(AXIN2):c.2037C>T (p.Phe679=)
|
rs1165276318
|
|
|
NM_004655.4(AXIN2):c.2040C>T (p.Thr680=)
|
rs900176493
|
|
|
NM_004655.4(AXIN2):c.2067C>G (p.Thr689=)
|
rs2144440522
|
|
|
NM_004655.4(AXIN2):c.2073C>T (p.Pro691=)
|
rs781738256
|
|
|
NM_004655.4(AXIN2):c.2079G>T (p.Thr693=)
|
rs551098654
|
|
|
NM_004655.4(AXIN2):c.2080C>T (p.Leu694=)
|
rs1325648219
|
|
|
NM_004655.4(AXIN2):c.2082G>C (p.Leu694=)
|
rs2043915421
|
|
|
NM_004655.4(AXIN2):c.2085T>C (p.Ala695=)
|
rs750097494
|
|
|
NM_004655.4(AXIN2):c.2089C>T (p.Leu697=)
|
rs2043915137
|
|
|
NM_004655.4(AXIN2):c.2091G>A (p.Leu697=)
|
rs2043915103
|
|
|
NM_004655.4(AXIN2):c.2100C>G (p.Ala700=)
|
rs1057522521
|
|
|
NM_004655.4(AXIN2):c.2103T>C (p.Cys701=)
|
rs1057520454
|
|
|
NM_004655.4(AXIN2):c.2112A>T (p.Leu704=)
|
rs1057524181
|
|
|
NM_004655.4(AXIN2):c.2121G>A (p.Val707=)
|
rs2144439332
|
|
|
NM_004655.4(AXIN2):c.2124G>A (p.Ser708=)
|
rs143243661
|
|
|
NM_004655.4(AXIN2):c.2127G>A (p.Lys709=)
|
rs2144439196
|
|
|
NM_004655.4(AXIN2):c.2133A>G (p.Pro711=)
|
rs1598096560
|
|
|
NM_004655.4(AXIN2):c.213G>A (p.Pro71=)
|
rs2144589652
|
|
|
NM_004655.4(AXIN2):c.2141+3G>A
|
rs1318855105
|
|
|
NM_004655.4(AXIN2):c.2172G>A (p.Arg724=)
|
rs2144433603
|
|
|
NM_004655.4(AXIN2):c.2181G>A (p.Ser727=)
|
rs1227518579
|
|
|
NM_004655.4(AXIN2):c.2187T>C (p.Thr729=)
|
rs760974572
|
|
|
NM_004655.4(AXIN2):c.2199A>C (p.Gly733=)
|
rs1598095790
|
|
|
NM_004655.4(AXIN2):c.2202C>T (p.Ala734=)
|
rs2144432898
|
|
|
NM_004655.4(AXIN2):c.2205A>G (p.Thr735=)
|
rs1598095782
|
|
|
NM_004655.4(AXIN2):c.2214C>T (p.Ser738=)
|
rs2144432594
|
|
|
NM_004655.4(AXIN2):c.2224C>T (p.Leu742=)
|
rs1323762983
|
|
|
NM_004655.4(AXIN2):c.2226G>A (p.Leu742=)
|
rs2043898469
|
|
|
NM_004655.4(AXIN2):c.2247G>A (p.Glu749=)
|
rs2509390315
|
|
|
NM_004655.4(AXIN2):c.2253G>A (p.Lys751=)
|
rs776281840
|
|
|
NM_004655.4(AXIN2):c.2262A>G (p.Ala754=)
|
rs1060504485
|
|
|
NM_004655.4(AXIN2):c.2277C>G (p.Leu759=)
|
rs1555576405
|
|
|
NM_004655.4(AXIN2):c.2280G>A (p.Gln760=)
|
|
|
|
NM_004655.4(AXIN2):c.2283C>T (p.Ala761=)
|
rs2144419743
|
|
|
NM_004655.4(AXIN2) |