|
NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
|
NM_000527.5(LDLR):c.1060+7=
|
rs2738442
|
0.99995
|
|
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=)
|
rs509504
|
0.98339
|
|
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
|
rs1042034
|
0.76948
|
|
NM_000069.3(CACNA1S):c.1828-5T>C
|
rs1998721
|
0.71016
|
|
NM_174936.4(PCSK9):c.-861G>A
|
rs2479409
|
0.65476
|
|
NM_000540.3(RYR1):c.594A>G (p.Leu198=)
|
rs2229139
|
0.60966
|
|
NM_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
|
NM_000527.5(LDLR):c.1959T>C (p.Val653=)
|
rs5925
|
0.37645
|
|
NM_000527.5(LDLR):c.1060+10G>C
|
rs12710260
|
0.34072
|
|
NM_000527.5(LDLR):c.1773C>T (p.Asn591=)
|
rs688
|
0.33665
|
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
|
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)
|
rs2229144
|
0.33092
|
|
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)
|
rs2960340
|
0.33086
|
|
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)
|
rs2229146
|
0.33010
|
|
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
|
NM_000540.3(RYR1):c.8693-10G>C
|
rs2915958
|
0.32159
|
|
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)
|
rs2915952
|
0.32150
|
|
NM_000540.3(RYR1):c.7863C>T (p.His2621=)
|
rs2229142
|
0.16968
|
|
NM_000540.3(RYR1):c.10687-7C>T
|
rs2960354
|
0.11845
|
|
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=)
|
rs2229147
|
0.10248
|
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08157
|
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
rs11669576
|
0.08075
|
|
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=)
|
rs2228071
|
0.06653
|
|
NM_000169.3(GLA):c.-12G>A
|
rs3027585
|
0.06554
|
|
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)
|
rs2234997
|
0.06244
|
|
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=)
|
rs11818239
|
0.04296
|
|
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=)
|
rs35959206
|
0.04188
|
|
NM_174936.4(PCSK9):c.657+9G>A
|
rs11800243
|
0.04011
|
|
NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
|
rs6752026
|
0.03579
|
|
NM_000384.3(APOB):c.2706C>T (p.Asn902=)
|
rs1801700
|
0.03503
|
|
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly)
|
rs12406479
|
0.03481
|
|
NM_004360.5(CDH1):c.48+5C>G
|
rs77312180
|
0.03370
|
|
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)
|
rs1800889
|
0.03133
|
|
NM_000540.3(RYR1):c.7260C>T (p.His2420=)
|
rs12973632
|
0.03006
|
|
NM_000540.3(RYR1):c.2871-5C>T
|
rs45585535
|
0.03001
|
|
NM_000038.6(APC):c.7704A>G (p.Gly2568=)
|
rs35043160
|
0.02992
|
|
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
|
rs533617
|
0.02869
|
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
|
NM_000051.4(ATM):c.657T>C (p.Cys219=)
|
rs2235003
|
0.02841
|
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
|
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=)
|
rs11882640
|
0.02804
|
|
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
|
rs28362263
|
0.02744
|
|
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
|
rs12691202
|
0.02673
|
|
NM_000455.5(STK11):c.816C>T (p.Tyr272=)
|
rs9282859
|
0.02603
|
|
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)
|
rs1801248
|
0.02598
|
|
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
|
rs61736761
|
0.02591
|
|
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
|
rs1801695
|
0.02558
|
|
NM_000051.4(ATM):c.1254A>G (p.Gln418=)
|
rs4987943
|
0.02542
|
|
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_000051.4(ATM):c.8786+8A>C
|
rs4986839
|
0.02488
|
|
NM_174936.4(PCSK9):c.705C>T (p.Ser235=)
|
rs7552471
|
0.02435
|
|
NM_000540.3(RYR1):c.1577-6C>G
|
rs61586345
|
0.02394
|
|
NM_000535.7(PMS2):c.1488C>T (p.His496=)
|
rs1805320
|
0.02307
|
|
NM_000455.5(STK11):c.264C>A (p.Ile88=)
|
rs56354945
|
0.02303
|
|
NM_000069.3(CACNA1S):c.2748C>T (p.His916=)
|
rs2297902
|
0.02302
|
|
NM_000540.3(RYR1):c.11908-14A>G
|
rs2292799
|
0.02290
|
|
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
|
rs12714192
|
0.02253
|
|
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=)
|
rs35021937
|
0.02251
|
|
NM_000384.3(APOB):c.8148C>T (p.Ile2716=)
|
rs6413458
|
0.02201
|
|
NM_000384.3(APOB):c.10701G>A (p.Thr3567=)
|
rs12713558
|
0.02176
|
|
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_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
|
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=)
|
rs45613041
|
0.02154
|
|
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu)
|
rs4802584
|
0.02143
|
|
NM_000051.4(ATM):c.5497-8T>C
|
rs3092829
|
0.02129
|
|
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)
|
rs57605939
|
0.02101
|
|
NM_004360.5(CDH1):c.1896C>T (p.His632=)
|
rs33969373
|
0.02054
|
|
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=)
|
rs2960319
|
0.01964
|
|
NM_000384.3(APOB):c.4365C>T (p.Phe1455=)
|
rs12720847
|
0.01812
|
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01796
|
|
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
|
rs1801699
|
0.01706
|
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
|
NM_007194.4(CHEK2):c.1542+11T>A
|
rs17881716
|
0.01603
|
|
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=)
|
rs142518033
|
0.01592
|
|
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu)
|
rs34934920
|
0.01583
|
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01574
|
|
NM_004360.5(CDH1):c.2634C>T (p.Gly878=)
|
rs2229044
|
0.01569
|
|
NM_000051.4(ATM):c.2193C>T (p.Tyr731=)
|
rs2229019
|
0.01543
|
|
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=)
|
rs35572415
|
0.01512
|
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
|
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp)
|
rs11570076
|
0.01409
|
|
NM_000051.4(ATM):c.2685A>G (p.Leu895=)
|
rs3218687
|
0.01393
|
|
NM_000540.3(RYR1):c.7835+7C>T
|
rs114522234
|
0.01374
|
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
|
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_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01296
|
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01274
|
|
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)
|
rs55876273
|
0.01258
|
|
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)
|
rs80325569
|
0.01244
|
|
NM_000546.6(TP53):c.639A>G (p.Arg213=)
|
rs1800372
|
0.01238
|
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
|
NM_058216.3(RAD51C):c.90G>A (p.Ala30=)
|
rs115414895
|
0.01193
|
|
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=)
|
rs2020910
|
0.01157
|
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
|
NM_000038.6(APC):c.7201C>T (p.Leu2401=)
|
rs2229994
|
0.01134
|
|
NM_000251.3(MSH2):c.2766T>C (p.Phe922=)
|
rs55859129
|
0.01118
|
|
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
|
rs1800058
|
0.01106
|
|
NM_000038.6(APC):c.3732A>G (p.Gln1244=)
|
rs74380081
|
0.01095
|
|
NM_000038.6(APC):c.1695A>G (p.Glu565=)
|
rs77921116
|
0.01091
|
|
NM_000051.4(ATM):c.735C>T (p.Val245=)
|
rs3218674
|
0.01085
|
|
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)
|
rs116091486
|
0.01080
|
|
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)
|
rs114771537
|
0.01071
|
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
|
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)
|
rs3219497
|
0.01036
|
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01016
|
|
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)
|
rs6972869
|
0.00992
|
|
NM_000540.3(RYR1):c.11625G>A (p.Ala3875=)
|
rs61729397
|
0.00991
|
|
NM_000546.6(TP53):c.108G>A (p.Pro36=)
|
rs1800370
|
0.00974
|
|
NM_000527.5(LDLR):c.90C>T (p.Asn30=)
|
rs72658855
|
0.00965
|
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
|
NM_001035.3(RYR2):c.2204-7C>G
|
rs147479514
|
0.00944
|
|
NM_004415.4(DSP):c.3510G>A (p.Glu1170=)
|
rs28763964
|
0.00942
|
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00910
|
|
NM_004360.5(CDH1):c.933C>G (p.Leu311=)
|
rs35539711
|
0.00904
|
|
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)
|
rs114975624
|
0.00899
|
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00891
|
|
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn)
|
rs142356235
|
0.00873
|
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
|
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_000138.5(FBN1):c.3965-8T>C
|
rs140637
|
0.00859
|
|
NM_000038.6(APC):c.2608C>T (p.Pro870Ser)
|
rs33974176
|
0.00858
|
|
NM_000051.4(ATM):c.8419-19A>G
|
rs12279930
|
0.00824
|
|
NM_174936.4(PCSK9):c.141C>T (p.Ser47=)
|
rs28385701
|
0.00824
|
|
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=)
|
rs10405232
|
0.00800
|
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00785
|
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
|
NM_000527.5(LDLR):c.941-4G>A
|
rs116405216
|
0.00771
|
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
|
NM_000540.3(RYR1):c.906C>T (p.Asp302=)
|
rs145943283
|
0.00765
|
|
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
|
rs12720854
|
0.00761
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
rs72658867
|
0.00757
|
|
NM_000527.5(LDLR):c.940+9C>T
|
rs17242906
|
0.00749
|
|
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=)
|
rs80039127
|
0.00745
|
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
|
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)
|
rs72549415
|
0.00737
|
|
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
|
rs12713844
|
0.00735
|
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00731
|
|
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His)
|
rs35856559
|
0.00730
|
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00725
|
|
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)
|
rs143004808
|
0.00716
|
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00711
|
|
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)
|
rs45517320
|
0.00705
|
|
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)
|
rs73202048
|
0.00704
|
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
|
NM_000527.5(LDLR):c.1586+16G>A
|
rs114891301
|
0.00699
|
|
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=)
|
rs77310009
|
0.00694
|
|
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly)
|
rs112105381
|
0.00685
|
|
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
|
rs1042023
|
0.00669
|
|
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00668
|
|
NM_000038.6(APC):c.5265G>A (p.Ala1755=)
|
rs34506289
|
0.00657
|
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00657
|
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00653
|
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
|
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)
|
rs1800060
|
0.00649
|
|
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=)
|
rs151313865
|
0.00648
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
rs72658861
|
0.00640
|
|
NM_000540.3(RYR1):c.3876C>A (p.Leu1292=)
|
rs143750836
|
0.00639
|
|
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly)
|
rs4151539
|
0.00623
|
|
NM_000540.3(RYR1):c.3326G>A (p.Arg1109Lys)
|
rs35719391
|
0.00619
|
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
|
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
|
rs4988111
|
0.00608
|
|
NM_000368.5(TSC1):c.2626-3C>T
|
rs1060503192
|
0.00608
|
|
NM_000540.3(RYR1):c.573C>T (p.Asp191=)
|
rs892054
|
0.00607
|
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00600
|
|
NM_000059.4(BRCA2):c.5704G>A
|
rs4987048
|
0.00598
|
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
|
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=)
|
rs146072491
|
0.00597
|
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
|
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)
|
rs76537615
|
0.00586
|
|
NM_000455.5(STK11):c.369G>A (p.Gln123=)
|
rs140112347
|
0.00584
|
|
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
|
rs13306194
|
0.00578
|
|
NM_000540.3(RYR1):c.6384C>T (p.Tyr2128=)
|
rs75181912
|
0.00574
|
|
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu)
|
rs73933023
|
0.00572
|
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
|
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=)
|
rs35480887
|
0.00563
|
|
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
|
rs1801703
|
0.00562
|
|
NM_000384.3(APOB):c.10131G>A (p.Leu3377=)
|
rs1799812
|
0.00560
|
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
|
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
|
rs72654423
|
0.00557
|
|
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=)
|
rs112868209
|
0.00555
|
|
NM_000540.3(RYR1):c.5037C>G (p.Arg1679=)
|
rs34169029
|
0.00555
|
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00554
|
|
NM_000540.3(RYR1):c.8068-14C>T
|
rs57376136
|
0.00554
|
|
NM_000321.3(RB1):c.2521-11G>A
|
rs4151624
|
0.00551
|
|
NM_000138.5(FBN1):c.1029G>A (p.Gly343=)
|
rs75655780
|
0.00545
|
|
NM_000540.3(RYR1):c.9771C>T (p.Ala3257=)
|
rs75991872
|
0.00545
|
|
NM_174936.4(PCSK9):c.720C>T (p.Gly240=)
|
rs41297883
|
0.00544
|
|
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)
|
rs35028636
|
0.00535
|
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00529
|
|
NM_000540.3(RYR1):c.2241G>A (p.Leu747=)
|
rs34097444
|
0.00526
|
|
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser)
|
rs113902911
|
0.00524
|
|
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=)
|
rs61730051
|
0.00522
|
|
NM_000138.5(FBN1):c.2855-9C>T
|
rs140590
|
0.00521
|
|
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala)
|
rs61743502
|
0.00516
|
|
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser)
|
rs17886163
|
0.00514
|
|
NM_000038.6(APC):c.1958+8T>C
|
rs62626346
|
0.00510
|
|
NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
|
rs191143292
|
0.00508
|
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00504
|
|
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr)
|
rs187200982
|
0.00499
|
|
NM_001048174.2(MUTYH):c.421-4A>G
|
rs201678305
|
0.00496
|
|
NM_000251.3(MSH2):c.984C>T (p.Ala328=)
|
rs4987189
|
0.00495
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
rs45508991
|
0.00495
|
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
|
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser)
|
rs28362261
|
0.00485
|
|
NM_000540.3(RYR1):c.873G>A (p.Ala291=)
|
rs2229140
|
0.00484
|
|
NM_000548.5(TSC2):c.2239C>T (p.Leu747=)
|
rs45517221
|
0.00480
|
|
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)
|
rs111536363
|
0.00480
|
|
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=)
|
rs61750975
|
0.00478
|
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00477
|
|
NM_007294.4(BRCA1):c.5406+8T>C
|
rs55946644
|
0.00474
|
|
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)
|
rs150397923
|
0.00468
|
|
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=)
|
rs61739895
|
0.00460
|
|
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp)
|
rs114203198
|
0.00452
|
|
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_000540.3(RYR1):c.9882C>T (p.Ser3294=)
|
rs142610625
|
0.00443
|
|
NM_000321.3(RB1):c.862-15C>A
|
rs115108608
|
0.00442
|
|
NM_007294.4(BRCA1):c.5333-221C>A
|
rs8176304
|
0.00441
|
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00439
|
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
|
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)
|
rs148147223
|
0.00436
|
|
NM_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
|
NM_004656.4(BAP1):c.2057-4G>T
|
rs149499021
|
0.00433
|
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00423
|
|
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln)
|
rs28363283
|
0.00423
|
|
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=)
|
rs200451188
|
0.00422
|
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
|
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=)
|
rs78795178
|
0.00417
|
|
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)
|
rs147240502
|
0.00417
|
|
NM_000540.3(RYR1):c.8949T>C (p.Ser2983=)
|
rs116537677
|
0.00415
|
|
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=)
|
rs35118875
|
0.00415
|
|
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=)
|
rs116703544
|
0.00413
|
|
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
|
rs28362277
|
0.00409
|
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00408
|
|
NM_000540.3(RYR1):c.1923C>G (p.Thr641=)
|
rs116591968
|
0.00404
|
|
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=)
|
rs140004449
|
0.00403
|
|
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00400
|
|
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)
|
rs55953736
|
0.00396
|
|
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr)
|
rs148772854
|
0.00392
|
|
NM_000051.4(ATM):c.1176C>G (p.Gly392=)
|
rs1800727
|
0.00388
|
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00387
|
|
NM_000384.3(APOB):c.606A>T (p.Glu202Asp)
|
rs61746672
|
0.00387
|
|
NM_000540.3(RYR1):c.3946C>A (p.Pro1316Thr)
|
rs200894780
|
0.00386
|
|
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)
|
rs146882581
|
0.00386
|
|
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)
|
rs143906555
|
0.00382
|
|
NM_004360.5(CDH1):c.532-18C>T
|
rs200673941
|
0.00381
|
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00376
|
|
NM_002878.4(RAD51D):c.873C>T (p.Arg291=)
|
rs140848654
|
0.00368
|
|
NM_004656.4(BAP1):c.1729+8T>C
|
rs150945583
|
0.00364
|
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
|
NM_000540.3(RYR1):c.6732G>A (p.Arg2244=)
|
rs78915828
|
0.00357
|
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00356
|
|
NM_000540.3(RYR1):c.4071C>T (p.Pro1357=)
|
rs375709463
|
0.00354
|
|
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=)
|
rs2228074
|
0.00351
|
|
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
|
rs145910245
|
0.00349
|
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
|
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00346
|
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00344
|
|
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
|
rs28362270
|
0.00344
|
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00340
|
|
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)
|
rs72541816
|
0.00335
|
|
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)
|
rs138049175
|
0.00333
|
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00329
|
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
|
NM_000540.3(RYR1):c.10941C>G (p.His3647Gln)
|
rs114351116
|
0.00326
|
|
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=)
|
rs34355306
|
0.00324
|
|
NM_058216.3(RAD51C):c.186A>G (p.Gln62=)
|
rs28363303
|
0.00322
|
|
NM_000527.5(LDLR):c.67+18C>A
|
rs17242759
|
0.00319
|
|
NM_000540.3(RYR1):c.2415T>C (p.Pro805=)
|
rs141881325
|
0.00319
|
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00318
|
|
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)
|
rs5926
|
0.00316
|
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00315
|
|
NC_000019.10:g.11089332C>T
|
rs17249141
|
0.00314
|
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
|
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_004656.4(BAP1):c.1002A>G (p.Leu334=)
|
rs28997577
|
0.00310
|
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
|
NM_024675.4(PALB2):c.1419A>C (p.Pro473=)
|
rs62625275
|
0.00309
|
|
NM_000038.6(APC):c.3471G>A (p.Glu1157=)
|
rs143927847
|
0.00308
|
|
NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn)
|
rs79294840
|
0.00307
|
|
NM_004656.4(BAP1):c.1026C>T (p.Ser342=)
|
rs71651686
|
0.00304
|
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00302
|
|
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=)
|
rs150388417
|
0.00301
|
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
|
NM_007294.4(BRCA1):c.114G>A (p.Lys38=)
|
rs1800062
|
0.00300
|
|
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_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
|
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)
|
rs35180584
|
0.00291
|
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
|
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)
|
rs7861780
|
0.00290
|
|
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)
|
rs11571657
|
0.00288
|
|
NM_000051.4(ATM):c.3993+5G>T
|
rs3092842
|
0.00287
|
|
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)
|
rs11840224
|
0.00287
|
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00287
|
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
|
NM_000059.4(BRCA2):c.67+62T>G
|
rs11571574
|
0.00284
|
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
|
NM_000038.6(APC):c.3165A>T (p.Ile1055=)
|
rs61734287
|
0.00280
|
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00280
|
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00280
|
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00279
|
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
|
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=)
|
rs141317474
|
0.00277
|
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
|
NM_024426.6(WT1):c.181C>A (p.Arg61=)
|
rs2234581
|
0.00269
|
|
NM_000038.6(APC):c.4893T>C (p.Ser1631=)
|
rs35634377
|
0.00268
|
|
NM_000051.4(ATM):c.7630-17T>C
|
rs116047570
|
0.00268
|
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
|
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=)
|
rs148516442
|
0.00268
|
|
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)
|
rs145988618
|
0.00268
|
|
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)
|
rs138073811
|
0.00264
|
|
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_000540.3(RYR1):c.11360-9T>A
|
rs150187840
|
0.00260
|
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00259
|
|
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=)
|
rs55992440
|
0.00257
|
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
|
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
|
rs141502002
|
0.00255
|
|
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=)
|
rs138498780
|
0.00254
|
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
|
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys)
|
rs116150891
|
0.00248
|
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00247
|
|
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser)
|
rs139491817
|
0.00246
|
|
NM_000051.4(ATM):c.2921+19dup
|
rs56112367
|
0.00245
|
|
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=)
|
rs149566621
|
0.00245
|
|
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)
|
rs70953664
|
0.00244
|
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00243
|
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00243
|
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00242
|
|
NM_000384.3(APOB):c.4825T>C (p.Leu1609=)
|
rs72653083
|
0.00242
|
|
NM_000540.3(RYR1):c.14130-8C>G
|
rs140808099
|
0.00242
|
|
NM_002474.3(MYH11):c.453G>A (p.Pro151=)
|
rs61734199
|
0.00242
|
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
|
NM_004360.5(CDH1):c.345G>A (p.Thr115=)
|
rs1801023
|
0.00236
|
|
NM_007194.4(CHEK2):c.593-14C>T
|
rs145754558
|
0.00235
|
|
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)
|
rs149547196
|
0.00234
|
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
|
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly)
|
rs139326669
|
0.00230
|
|
NM_000384.3(APOB):c.581C>T (p.Thr194Met)
|
rs13306198
|
0.00229
|
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
|
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile)
|
rs114191482
|
0.00228
|
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
|
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=)
|
rs138573101
|
0.00226
|
|
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp)
|
rs3729799
|
0.00223
|
|
NM_000527.5(LDLR):c.2390-16G>A
|
rs183496025
|
0.00221
|
|
NM_003000.3(SDHB):c.170A>G (p.His57Arg)
|
rs35962811
|
0.00221
|
|
NM_002474.3(MYH11):c.3652-6C>T
|
rs193922630
|
0.00219
|
|
NM_004656.4(BAP1):c.960C>T (p.Cys320=)
|
rs143659795
|
0.00219
|
|
NM_174936.4(PCSK9):c.753C>T (p.Arg251=)
|
rs28385710
|
0.00219
|
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00218
|
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
|
NM_000038.6(APC):c.705A>G (p.Leu235=)
|
rs147036141
|
0.00213
|
|
NM_000540.3(RYR1):c.216G>T (p.Leu72=)
|
rs113389877
|
0.00213
|
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00213
|
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00211
|
|
NM_000540.3(RYR1):c.958-11del
|
rs537751969
|
0.00211
|
|
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)
|
rs72749169
|
0.00210
|
|
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=)
|
rs115200071
|
0.00209
|
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
|
NM_000059.4(BRCA2):c.2927C>T (p.Ser976Phe)
|
rs11571656
|
0.00208
|
|
NM_000455.5(STK11):c.464+9G>A
|
rs376313955
|
0.00208
|
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00206
|
|
NM_002878.4(RAD51D):c.771C>T (p.Ser257=)
|
rs146212490
|
0.00206
|
|
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)
|
rs61733680
|
0.00204
|
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
|
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)
|
rs147336515
|
0.00202
|
|
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_004329.3(BMPR1A):c.777G>A (p.Ala259=)
|
rs56108371
|
0.00200
|
|
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)
|
rs11570052
|
0.00199
|
|
NM_001943.5(DSG2):c.2484T>C (p.Asp828=)
|
rs201051252
|
0.00199
|
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00198
|
|
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
|
rs72653077
|
0.00198
|
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
|
NM_000540.3(RYR1):c.3557-6C>T
|
rs139849689
|
0.00196
|
|
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)
|
rs142429411
|
0.00196
|
|
NM_000540.3(RYR1):c.12283-7C>T
|
rs143861818
|
0.00195
|
|
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr)
|
rs147012990
|
0.00194
|
|
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)
|
rs113194608
|
0.00194
|
|
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_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
|
NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr)
|
rs144862123
|
0.00192
|
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
|
NM_000540.3(RYR1):c.271-7C>G
|
rs192495718
|
0.00192
|
|
NM_000384.3(APOB):c.751G>A (p.Ala251Thr)
|
rs61741625
|
0.00190
|
|
NM_007194.4(CHEK2):c.1407G>A (p.Val469=)
|
rs17881378
|
0.00190
|
|
NM_000540.3(RYR1):c.9353C>T (p.Ala3118Val)
|
rs2915960
|
0.00188
|
|
NM_007294.4(BRCA1):c.5277+48_5277+59dup
|
rs572766355
|
0.00187
|
|
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)
|
rs75091137
|
0.00187
|
|
NM_000540.3(RYR1):c.297G>A (p.Thr99=)
|
rs144241486
|
0.00186
|
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00185
|
|
NM_000540.3(RYR1):c.9555-9G>A
|
rs149569999
|
0.00185
|
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
|
NM_000546.6(TP53):c.782+17C>T
|
rs17880172
|
0.00184
|
|
NM_024675.4(PALB2):c.2256A>G (p.Gly752=)
|
rs147120218
|
0.00184
|
|
NM_000527.5(LDLR):c.1545C>T (p.Asn515=)
|
rs147896205
|
0.00183
|
|
NM_000535.7(PMS2):c.23+10G>C
|
rs192027828
|
0.00182
|
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00182
|
|
NM_000384.3(APOB):c.3426G>A (p.Ser1142=)
|
rs142448733
|
0.00180
|
|
NM_000321.3(RB1):c.2212-15A>G
|
rs372815788
|
0.00178
|
|
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)
|
rs200224422
|
0.00176
|
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00174
|
|
NM_000268.4(NF2):c.1123-6C>T
|
rs147898623
|
0.00173
|
|
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)
|
rs61754141
|
0.00173
|
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00172
|
|
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn)
|
rs116347156
|
0.00172
|
|
NM_000384.3(APOB):c.905-16A>C
|
rs12720810
|
0.00172
|
|
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)
|
rs113667224
|
0.00171
|
|
NM_002878.4(RAD51D):c.481-7G>A
|
rs145832514
|
0.00171
|
|
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
|
NM_002474.3(MYH11):c.1848C>T (p.Ala616=)
|
rs112834652
|
0.00167
|
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00167
|
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00166
|
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00166
|
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00166
|
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00166
|
|
NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys)
|
rs115109161
|
0.00166
|
|
NM_007294.4(BRCA1):c.21C>T (p.Arg7=)
|
rs149402012
|
0.00165
|
|
NM_000321.3(RB1):c.2212-6C>T
|
rs776162179
|
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_000540.3(RYR1):c.6612C>T (p.His2204=)
|
rs141646642
|
0.00161
|
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
rs139555085
|
0.00160
|
|
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=)
|
rs138423302
|
0.00159
|
|
NM_000251.3(MSH2):c.1277-8T>C
|
rs145400590
|
0.00159
|
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00158
|
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00156
|
|
NM_000540.3(RYR1):c.2622G>A (p.Ala874=)
|
rs149381996
|
0.00155
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
rs17248882
|
0.00154
|
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00154
|
|
NM_000527.5(LDLR):c.498C>T (p.Ala166=)
|
rs10417394
|
0.00153
|
|
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)
|
rs3219496
|
0.00153
|
|
NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=)
|
rs150946485
|
0.00153
|
|
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)
|
rs112414873
|
0.00153
|
|
NM_000251.3(MSH2):c.1387-8G>T
|
rs187525243
|
0.00152
|
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00152
|
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00151
|
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00151
|
|
NM_000314.8(PTEN):c.1104T>C (p.Asp368=)
|
rs35979531
|
0.00151
|
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00149
|
|
NM_000548.5(TSC2):c.3815-15G>A
|
rs45480591
|
0.00149
|
|
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)
|
rs199789628
|
0.00148
|
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
|
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)
|
rs4986844
|
0.00147
|
|
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr)
|
rs140868933
|
0.00146
|
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
|
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala)
|
rs41263775
|
0.00146
|
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00145
|
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
|
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)
|
rs55815649
|
0.00145
|
|
NM_000038.6(APC):c.6921G>A (p.Ser2307=)
|
rs2229993
|
0.00143
|
|
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_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00142
|
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
|
NM_002474.3(MYH11):c.2961C>T (p.Ile987=)
|
rs137988790
|
0.00142
|
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00141
|
|
NM_000540.3(RYR1):c.2919C>T (p.His973=)
|
rs139363830
|
0.00140
|
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
|
NM_002474.3(MYH11):c.4578+3A>G
|
rs143288748
|
0.00139
|
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
|
NM_000527.5(LDLR):c.1194C>T (p.Ile398=)
|
rs13306498
|
0.00138
|
|
NM_000548.5(TSC2):c.5260-15C>T
|
rs45517416
|
0.00138
|
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
rs151009667
|
0.00137
|
|
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)
|
rs148623597
|
0.00137
|
|
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala)
|
rs79068489
|
0.00137
|
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
|
NM_000314.8(PTEN):c.79+35C>T
|
rs190707033
|
0.00135
|
|
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)
|
rs147448807
|
0.00135
|
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
|
NM_000527.5(LDLR):c.1323C>T (p.Ile441=)
|
rs5933
|
0.00134
|
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00133
|
|
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)
|
rs139956524
|
0.00133
|
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
|
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)
|
rs144256966
|
0.00132
|
|
NM_002878.4(RAD51D):c.666A>G (p.Glu222=)
|
rs114012742
|
0.00131
|
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00130
|
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00129
|
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00128
|
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00127
|
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00127
|
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
|
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)
|
rs142558977
|
0.00126
|
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00126
|
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
|
NM_000455.5(STK11):c.598-8C>T
|
rs373610101
|
0.00123
|
|
NM_002878.4(RAD51D):c.263+1588A>G
|
rs180869630
|
0.00123
|
|
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr)
|
rs114544564
|
0.00122
|
|
NM_020975.6(RET):c.654G>A (p.Pro218=)
|
rs137928436
|
0.00121
|
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
|
NM_032043.3(BRIP1):c.918+15T>A
|
rs117820198
|
0.00121
|
|
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=)
|
rs142775086
|
0.00120
|
|
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)
|
rs138770431
|
0.00119
|
|
NM_000527.5(LDLR):c.*19G>A
|
rs56270417
|
0.00117
|
|
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)
|
rs142230276
|
0.00117
|
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00116
|
|
NM_000527.5(LDLR):c.858C>T (p.Ser286=)
|
rs140241383
|
0.00116
|
|
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)
|
rs138630815
|
0.00116
|
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00116
|
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00116
|
|
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)
|
rs113577372
|
0.00115
|
|
NM_000249.4(MLH1):c.-7C>T
|
rs104894994
|
0.00115
|
|
NM_000268.4(NF2):c.12C>T (p.Ala4=)
|
rs144477078
|
0.00115
|
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
|
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)
|
rs56014374
|
0.00115
|
|
NM_000069.3(CACNA1S):c.3795+3G>A
|
rs191758096
|
0.00113
|
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
rs5928
|
0.00113
|
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
|
NM_174936.4(PCSK9):c.525C>T (p.Asp175=)
|
rs148612296
|
0.00113
|
|
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)
|
rs11570082
|
0.00111
|
|
NM_000540.3(RYR1):c.725+6G>A
|
rs201679831
|
0.00111
|
|
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_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00110
|
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
|
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=)
|
rs11571652
|
0.00109
|
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
|
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)
|
rs45439097
|
0.00109
|
|
NM_000384.3(APOB):c.2068-4T>A
|
rs41291161
|
0.00108
|
|
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr)
|
rs45490792
|
0.00108
|
|
NM_004415.4(DSP):c.2986-6T>A
|
rs144748036
|
0.00108
|
|
NM_017841.4(SDHAF2):c.32C>T (p.Ser11Leu)
|
rs148425779
|
0.00108
|
|
NM_020975.6(RET):c.1197G>A (p.Pro399=)
|
rs148371113
|
0.00108
|
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00107
|
|
NM_007294.4(BRCA1):c.765G>A (p.Glu255=)
|
rs62625299
|
0.00107
|
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
|
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)
|
rs187705120
|
0.00106
|
|
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)
|
rs80357459
|
0.00106
|
|
NM_058216.3(RAD51C):c.195A>G (p.Arg65=)
|
rs45511291
|
0.00105
|
|
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=)
|
rs143055643
|
0.00104
|
|
NM_000321.3(RB1):c.1961-12T>C
|
rs201697122
|
0.00104
|
|
NM_001943.5(DSG2):c.221A>G (p.His74Arg)
|
rs201855245
|
0.00104
|
|
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_058216.3(RAD51C):c.837+13T>C
|
rs188613030
|
0.00103
|
|
NM_000051.4(ATM):c.2127T>C (p.Ile709=)
|
rs56252953
|
0.00102
|
|
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=)
|
rs147961615
|
0.00102
|
|
NM_000384.3(APOB):c.7612C>T (p.Leu2538=)
|
rs72653093
|
0.00102
|
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
|
NM_000179.3(MSH6):c.984C>T (p.Ser328=)
|
rs138143769
|
0.00101
|
|
NM_000251.3(MSH2):c.942+2T>A
|
rs587779195
|
0.00101
|
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
|
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys)
|
rs61739911
|
0.00101
|
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00101
|
|
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=)
|
rs150520884
|
0.00100
|
|
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=)
|
rs199727625
|
0.00100
|
|
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=)
|
rs34490141
|
0.00100
|
|
NM_000535.7(PMS2):c.353+9A>C
|
rs139990791
|
0.00100
|
|
NM_000321.3(RB1):c.1421+9T>C
|
rs183417081
|
0.00099
|
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00098
|
|
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)
|
rs56091799
|
0.00098
|
|
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)
|
rs144206959
|
0.00098
|
|
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)
|
rs150547672
|
0.00098
|
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00098
|
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
0.00098
|
|
NM_000038.6(APC):c.5790A>G (p.Gln1930=)
|
rs141152252
|
0.00097
|
|
NM_000038.6(APC):c.2262T>G (p.Val754=)
|
rs148987776
|
0.00096
|
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
|
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp)
|
rs193922382
|
0.00096
|
|
NM_005359.6(SMAD4):c.787+1_788-1del
|
rs1599189646
|
0.00095
|
|
NM_000059.4(BRCA2):c.6937+594T>G
|
rs191253965
|
0.00094
|
|
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=)
|
rs140584234
|
0.00094
|
|
NM_000251.3(MSH2):c.819A>G (p.Val273=)
|
rs146577635
|
0.00094
|
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00093
|
|
NM_002474.3(MYH11):c.3604G>A (p.Ala1202Thr)
|
rs112657320
|
0.00093
|
|
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=)
|
rs114556043
|
0.00093
|
|
NM_000038.6(APC):c.8043G>C (p.Pro2681=)
|
rs149347068
|
0.00092
|
|
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)
|
rs3092859
|
0.00092
|
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00092
|
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00092
|
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
|
NM_000257.4(MYH7):c.930T>C (p.Tyr310=)
|
rs111626355
|
0.00091
|
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00090
|
|
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
0.00089
|
|
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=)
|
rs55845713
|
0.00089
|
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
|
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala)
|
rs45491005
|
0.00088
|
|
NM_000527.5(LDLR):c.828C>T (p.Cys276=)
|
rs146651743
|
0.00088
|
|
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)
|
rs56321129
|
0.00088
|
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00087
|
|
NM_000546.6(TP53):c.994-17C>T
|
rs368691910
|
0.00087
|
|
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys)
|
rs115227204
|
0.00086
|
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00086
|
|
NM_000535.7(PMS2):c.251-20T>G
|
rs149343081
|
0.00086
|
|
NM_001035.3(RYR2):c.828A>G (p.Arg276=)
|
rs180711819
|
0.00086
|
|
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg)
|
rs568391206
|
0.00086
|
|
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)
|
rs200313585
|
0.00085
|
|
NM_000548.5(TSC2):c.2838-4A>G
|
rs45517272
|
0.00085
|
|
NM_000465.4(BARD1):c.90T>A (p.Gly30=)
|
rs150354152
|
0.00084
|
|
NM_000540.3(RYR1):c.4088C>T (p.Ala1363Val)
|
rs774603798
|
0.00084
|
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
|
NM_000527.5(LDLR):c.817+9T>C
|
rs375163928
|
0.00083
|
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00083
|
|
NM_000548.5(TSC2):c.2979G>A (p.Thr993=)
|
rs45517277
|
0.00083
|
|
NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
|
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys)
|
rs115031549
|
0.00083
|
|
NM_000268.4(NF2):c.1451T>C (p.Met484Thr)
|
rs141538143
|
0.00082
|
|
NM_000540.3(RYR1):c.14130-9T>G
|
rs191894192
|
0.00082
|
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00081
|
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00081
|
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
|
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=)
|
rs112051451
|
0.00081
|
|
NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu)
|
rs183044693
|
0.00080
|
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
|
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=)
|
rs368560744
|
0.00080
|
|
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=)
|
rs181744522
|
0.00080
|
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
|
NM_000051.4(ATM):c.3517T>C (p.Leu1173=)
|
rs141460670
|
0.00079
|
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00079
|
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00078
|
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00078
|
|
NM_000540.3(RYR1):c.4971C>T (p.Asp1657=)
|
rs141107290
|
0.00078
|
|
NM_020975.6(RET):c.1119G>A (p.Ala373=)
|
rs113931414
|
0.00078
|
|
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln)
|
rs143275858
|
0.00078
|
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
|
NM_000069.3(CACNA1S):c.2601C>T (p.Tyr867=)
|
rs34374418
|
0.00076
|
|
NM_000069.3(CACNA1S):c.4114-8T>C
|
rs373675720
|
0.00076
|
|
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr)
|
rs201098973
|
0.00076
|
|
NM_000321.3(RB1):c.1129A>T (p.Thr377Ser)
|
rs146897002
|
0.00076
|
|
NM_000321.3(RB1):c.52G>T (p.Ala18Ser)
|
rs528218090
|
0.00076
|
|
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)
|
rs147196739
|
0.00076
|
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
|
NM_032043.3(BRIP1):c.195A>G (p.Gln65=)
|
rs141436143
|
0.00076
|
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
|
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)
|
rs149359120
|
0.00075
|
|
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met)
|
rs111854563
|
0.00075
|
|
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=)
|
rs139881155
|
0.00075
|
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00075
|
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
|
NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn)
|
rs200893443
|
0.00074
|
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00072
|
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00072
|
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00072
|
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00072
|
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
|
NM_000540.3(RYR1):c.7860G>A (p.Gln2620=)
|
rs147587000
|
0.00072
|
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
|
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)
|
rs75870842
|
0.00071
|
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
|
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)
|
rs370890951
|
0.00071
|
|
NM_058216.3(RAD51C):c.146-8A>G
|
rs201079501
|
0.00071
|
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00070
|
|
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met)
|
rs367577681
|
0.00070
|
|
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_000531.6(OTC):c.298+5G>C
|
rs72554348
|
0.00069
|
|
NM_000540.3(RYR1):c.4902C>G (p.Thr1634=)
|
rs377100871
|
0.00069
|
|
NM_000455.5(STK11):c.597+14del
|
rs536282050
|
0.00068
|
|
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=)
|
rs200950362
|
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_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
|
NM_000540.3(RYR1):c.7020C>T (p.Phe2340=)
|
rs199993301
|
0.00067
|
|
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)
|
rs45517171
|
0.00067
|
|
NM_000551.4(VHL):c.183C>G (p.Pro61=)
|
rs63650860
|
0.00067
|
|
NM_002474.3(MYH11):c.1871G>A (p.Arg624His)
|
rs201991156
|
0.00067
|
|
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)
|
rs148478829
|
0.00067
|
|
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys)
|
rs145886902
|
0.00067
|
|
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)
|
rs199807461
|
0.00066
|
|
NM_001005242.3(PKP2):c.1379-2067G>A
|
rs138538072
|
0.00066
|
|
NM_007294.4(BRCA1):c.81-12C>G
|
rs80358055
|
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_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
|
NM_001035.3(RYR2):c.615C>T (p.Ala205=)
|
rs112680790
|
0.00065
|
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
|
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_017841.4(SDHAF2):c.319C>T (p.Arg107Cys)
|
rs140191819
|
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_000257.4(MYH7):c.3156G>A (p.Lys1052=)
|
rs138294643
|
0.00063
|
|
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu)
|
rs148527903
|
0.00063
|
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00063
|
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00063
|
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
|
NM_000268.4(NF2):c.1113C>T (p.Asn371=)
|
rs142459414
|
0.00062
|
|
NM_000540.3(RYR1):c.6387C>T (p.Asp2129=)
|
rs117886618
|
0.00062
|
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
|
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=)
|
rs200663253
|
0.00061
|
|
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
|
rs72653092
|
0.00061
|
|
NM_000540.3(RYR1):c.11609-13C>T
|
rs374885508
|
0.00061
|
|
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)
|
rs151325948
|
0.00061
|
|
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr)
|
rs200494044
|
0.00061
|
|
NM_002474.3(MYH11):c.3196G>A (p.Asp1066Asn)
|
rs200315340
|
0.00061
|
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00061
|
|
NM_000540.3(RYR1):c.9555-7C>G
|
rs376790946
|
0.00060
|
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
|
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile)
|
rs56309455
|
0.00059
|
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
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_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
|
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=)
|
rs145756629
|
0.00058
|
|
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
|
rs149127230
|
0.00058
|
|
NM_004656.4(BAP1):c.519T>C (p.Tyr173=)
|
rs143901408
|
0.00058
|
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00057
|
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00057
|
|
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)
|
rs113058779
|
0.00057
|
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00057
|
|
NM_002474.3(MYH11):c.12G>A (p.Lys4=)
|
rs112650390
|
0.00057
|
|
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=)
|
rs760611400
|
0.00057
|
|
NM_003000.3(SDHB):c.65G>C (p.Cys22Ser)
|
rs141230910
|
0.00057
|
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
|
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=)
|
rs112566179
|
0.00056
|
|
NM_000069.3(CACNA1S):c.3796-11C>T
|
rs369565379
|
0.00056
|
|
NM_000069.3(CACNA1S):c.5049-2A>G
|
rs148989517
|
0.00056
|
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00056
|
|
NM_002474.3(MYH11):c.2649G>A (p.Ser883=)
|
rs150943863
|
0.00056
|
|
NM_004656.4(BAP1):c.1320G>A (p.Leu440=)
|
rs77722216
|
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_000069.3(CACNA1S):c.369T>C (p.Asn123=)
|
rs148680317
|
0.00055
|
|
NM_000077.5(CDKN2A):c.151-4G>C
|
rs529380972
|
0.00055
|
|
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)
|
rs142509759
|
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_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00054
|
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
|
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=)
|
rs138574576
|
0.00054
|
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00054
|
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
|
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)
|
rs56119278
|
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_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
|
NM_000059.4(BRCA2):c.7435+6G>A
|
rs81002852
|
0.00053
|
|
NM_000069.3(CACNA1S):c.1506C>T (p.Phe502=)
|
rs141808465
|
0.00053
|
|
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)
|
rs148870919
|
0.00053
|
|
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=)
|
rs149790711
|
0.00053
|
|
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
0.00053
|
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00053
|
|
NM_000455.5(STK11):c.426C>T (p.Ser142=)
|
rs758448869
|
0.00053
|
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
|
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val)
|
rs146361173
|
0.00053
|
|
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=)
|
rs144218745
|
0.00052
|
|
NM_000321.3(RB1):c.1707A>G (p.Leu569=)
|
rs3092895
|
0.00052
|
|
NM_000527.5(LDLR):c.1167G>A (p.Thr389=)
|
rs139066906
|
0.00052
|
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00052
|
|
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val)
|
rs111936548
|
0.00052
|
|
NM_004656.4(BAP1):c.501G>A (p.Ala167=)
|
rs148631953
|
0.00052
|
|
NM_020975.6(RET):c.225G>A (p.Thr75=)
|
rs151267865
|
0.00052
|
|
NM_000038.6(APC):c.3963C>T (p.Ser1321=)
|
rs150595875
|
0.00051
|
|
NM_000069.3(CACNA1S):c.4339-14G>A
|
rs200570483
|
0.00051
|
|
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu)
|
rs139069946
|
0.00051
|
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
|
NM_001005242.3(PKP2):c.1379-2019C>T
|
rs149930872
|
0.00051
|
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
|
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr)
|
rs55808233
|
0.00051
|
|
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)
|
rs61746358
|
0.00051
|
|
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr)
|
rs200736454
|
0.00051
|
|
NM_020975.6(RET):c.405C>T (p.Gly135=)
|
rs142345108
|
0.00051
|
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00050
|
|
NM_000069.3(CACNA1S):c.-4A>G
|
rs200408018
|
0.00050
|
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00050
|
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
|
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp)
|
rs187912365
|
0.00050
|
|
NM_000548.5(TSC2):c.1821G>A (p.Ala607=)
|
rs149543046
|
0.00050
|
|
NM_000548.5(TSC2):c.2640-13C>T
|
rs201184637
|
0.00050
|
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00050
|
|
NM_003000.3(SDHB):c.21C>T (p.Leu7=)
|
rs147815442
|
0.00050
|
|
NM_017841.4(SDHAF2):c.309C>T (p.Asn103=)
|
rs184314049
|
0.00050
|
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00049
|
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00049
|
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
|
NM_000540.3(RYR1):c.7830C>T (p.Leu2610=)
|
rs140063541
|
0.00049
|
|
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)
|
rs28897744
|
0.00048
|
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
|
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)
|
rs115670442
|
0.00048
|
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00048
|
|
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu)
|
rs150033906
|
0.00048
|
|
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)
|
rs143615668
|
0.00048
|
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
|
NM_000059.4(BRCA2):c.9411T>G (p.Thr3137=)
|
rs1799968
|
0.00047
|
|
NM_000069.3(CACNA1S):c.1112C>T (p.Thr371Met)
|
rs150954040
|
0.00047
|
|
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp)
|
rs193068692
|
0.00047
|
|
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=)
|
rs145434723
|
0.00047
|
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00047
|
|
NM_058216.3(RAD51C):c.706-18T>C
|
rs56401264
|
0.00047
|
|
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met)
|
rs377030324
|
0.00046
|
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
|
NM_000465.4(BARD1):c.144G>A (p.Leu48=)
|
rs151168457
|
0.00046
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
0.00046
|
|
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)
|
rs145044872
|
0.00046
|
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
|
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro)
|
rs149141477
|
0.00046
|
|
NM_004415.4(DSP):c.8301C>G (p.Thr2767=)
|
rs145362059
|
0.00046
|
|
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)
|
rs80356892
|
0.00046
|
|
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)
|
rs200996053
|
0.00045
|
|
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser)
|
rs146136274
|
0.00045
|
|
NM_000179.3(MSH6):c.491A>C (p.His164Pro)
|
rs146469162
|
0.00045
|
|
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=)
|
rs368221517
|
0.00045
|
|
NM_000465.4(BARD1):c.215+12C>T
|
rs373816832
|
0.00045
|
|
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro)
|
rs148069478
|
0.00045
|
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
|
NM_004360.5(CDH1):c.1744C>T (p.Leu582=)
|
rs1801025
|
0.00045
|
|
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)
|
rs142410803
|
0.00045
|
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
|
NM_000059.4(BRCA2):c.198A>G (p.Gln66=)
|
rs28897700
|
0.00044
|
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
|
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=)
|
rs1005074
|
0.00044
|
|
NM_000249.4(MLH1):c.1410-10T>G
|
rs372053184
|
0.00044
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
rs150673992
|
0.00044
|
|
NM_000540.3(RYR1):c.1152C>T (p.Asp384=)
|
rs149770144
|
0.00044
|
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00044
|
|
NM_174936.4(PCSK9):c.1491C>T (p.Gly497=)
|
rs147599496
|
0.00044
|
|
NM_174936.4(PCSK9):c.1864-13C>T
|
rs147470944
|
0.00044
|
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00043
|
|
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly)
|
rs200342067
|
0.00043
|
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00043
|
|
NM_000527.5(LDLR):c.2548-19G>A
|
rs146008484
|
0.00043
|
|
NM_000540.3(RYR1):c.12203A>G (p.Lys4068Arg)
|
rs114009747
|
0.00043
|
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
|
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)
|
rs150269172
|
0.00043
|
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
|
NM_000138.5(FBN1):c.645A>C (p.Arg215=)
|
rs200062771
|
0.00042
|
|
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys)
|
rs74315503
|
0.00042
|
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00042
|
|
NM_000540.3(RYR1):c.4090G>C (p.Gly1364Arg)
|
rs35869497
|
0.00042
|
|
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln)
|
rs146793133
|
0.00042
|
|
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe)
|
rs143445685
|
0.00042
|
|
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser)
|
rs185661462
|
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.1687G>A (p.Asp563Asn)
|
rs199875471
|
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_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)
|
rs144079536
|
0.00041
|
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
|
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
|
rs34916635
|
0.00041
|
|
NM_004360.5(CDH1):c.*16C>T
|
rs769544370
|
0.00041
|
|
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=)
|
rs36074916
|
0.00041
|
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
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_000268.4(NF2):c.1753G>A (p.Ala585Thr)
|
rs145446060
|
0.00040
|
|
NM_000321.3(RB1):c.411A>T (p.Glu137Asp)
|
rs3092902
|
0.00040
|
|
NM_000368.5(TSC1):c.1773G>A (p.Pro591=)
|
rs146578402
|
0.00040
|
|
NM_000527.5(LDLR):c.2055G>A (p.Pro685=)
|
rs149126953
|
0.00040
|
|
NM_000527.5(LDLR):c.694+9G>A
|
rs34093283
|
0.00040
|
|
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=)
|
rs146617004
|
0.00040
|
|
NM_002474.3(MYH11):c.3776C>T (p.Ala1259Val)
|
rs138623948
|
0.00040
|
|
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His)
|
rs116911972
|
0.00040
|
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
|
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser)
|
rs181834806
|
0.00039
|
|
NM_000368.5(TSC1):c.2505C>T (p.Leu835=)
|
rs112384441
|
0.00039
|
|
NM_000540.3(RYR1):c.7788C>T (p.Thr2596=)
|
rs199636890
|
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_000038.6(APC):c.2847G>T (p.Met949Ile)
|
rs147394539
|
0.00038
|
|
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr)
|
rs138933660
|
0.00038
|
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
|
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
|
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)
|
rs199474808
|
0.00038
|
|
NM_000527.5(LDLR):c.1056C>T (p.Cys352=)
|
rs13306515
|
0.00038
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
rs148698650
|
0.00038
|
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
|
NM_000540.3(RYR1):c.1123-11C>T
|
rs3745845
|
0.00038
|
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
|
NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp)
|
rs200264407
|
0.00038
|
|
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
|
NM_005902.4(SMAD3):c.483C>T (p.Pro161=)
|
rs202203039
|
0.00038
|
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
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_000540.3(RYR1):c.12553G>A (p.Ala4185Thr)
|
rs151119428
|
0.00037
|
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
|
NM_000053.4(ATP7B):c.3465G>T (p.Arg1155Ser)
|
rs201985951
|
0.00036
|
|
NM_000059.4(BRCA2):c.6842-20T>A
|
rs81002811
|
0.00036
|
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
|
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val)
|
rs370412052
|
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_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00036
|
|
NM_000548.5(TSC2):c.1143G>A (p.Arg381=)
|
rs45517155
|
0.00036
|
|
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=)
|
rs371931287
|
0.00036
|
|
NM_002474.3(MYH11):c.471C>T (p.Ile157=)
|
rs140267000
|
0.00036
|
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
|
NM_007294.4(BRCA1):c.4484+14A>G
|
rs80358022
|
0.00036
|
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
|
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser)
|
rs200863613
|
0.00035
|
|
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
|
rs369097329
|
0.00035
|
|
NM_000540.3(RYR1):c.2658C>T (p.Ile886=)
|
rs148094797
|
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_016203.4(PRKAG2):c.247C>T (p.Pro83Ser)
|
rs148791216
|
0.00035
|
|
NM_000038.6(APC):c.1554G>A (p.Thr518=)
|
rs546568052
|
0.00034
|
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00034
|
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
|
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)
|
rs141122361
|
0.00034
|
|
NM_000540.3(RYR1):c.10938-9C>T
|
rs201976186
|
0.00034
|
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
|
NM_007194.4(CHEK2):c.*18C>T
|
rs17884403
|
0.00034
|
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
|
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln)
|
rs201953758
|
0.00034
|
|
NM_032043.3(BRIP1):c.380-17T>A
|
rs200050729
|
0.00034
|
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00033
|
|
NM_000053.4(ATP7B):c.1947-4C>T
|
rs74904335
|
0.00033
|
|
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)
|
rs3136334
|
0.00033
|
|
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_002474.3(MYH11):c.1989G>A (p.Lys663=)
|
rs138581000
|
0.00033
|
|
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)
|
rs147710374
|
0.00033
|
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
|
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=)
|
rs140487104
|
0.00033
|
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
0.00032
|
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
|
NM_000069.3(CACNA1S):c.1382C>T (p.Thr461Ile)
|
rs143202536
|
0.00032
|
|
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=)
|
rs138245131
|
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_000527.5(LDLR):c.1977C>A (p.Thr659=)
|
rs72658866
|
0.00032
|
|
NM_000535.7(PMS2):c.988+11T>C
|
rs139969671
|
0.00032
|
|
NM_000551.4(VHL):c.-73C>T
|
rs1034934219
|
0.00032
|
|
NM_002474.3(MYH11):c.3669C>T (p.Asp1223=)
|
rs111940956
|
0.00032
|
|
NM_005359.6(SMAD4):c.102A>G (p.Thr34=)
|
rs146104321
|
0.00032
|
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
|
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)
|
rs80357015
|
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_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
|
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=)
|
rs113022801
|
0.00031
|
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
|
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser)
|
rs192863857
|
0.00031
|
|
NM_000540.3(RYR1):c.6127+3A>G
|
rs78851466
|
0.00031
|
|
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=)
|
rs145446438
|
0.00031
|
|
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met)
|
rs138325444
|
0.00031
|
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
|
NM_004656.4(BAP1):c.1962A>C (p.Val654=)
|
rs148624125
|
0.00031
|
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00031
|
|
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)
|
rs55870064
|
0.00030
|
|
NM_000069.3(CACNA1S):c.2361-11C>T
|
rs376279583
|
0.00030
|
|
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)
|
rs140453525
|
0.00030
|
|
NM_000268.4(NF2):c.886-15C>T
|
rs200837904
|
0.00030
|
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
|
NM_001048174.2(MUTYH):c.116-54C>T
|
rs367908623
|
0.00030
|
|
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu)
|
rs35035518
|
0.00030
|
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
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_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)
|
rs141204958
|
0.00029
|
|
NM_000069.3(CACNA1S):c.542-13C>T
|
rs199502458
|
0.00029
|
|
NM_000077.5(CDKN2A):c.-14C>T
|
rs764244718
|
0.00029
|
|
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=)
|
rs184402915
|
0.00029
|
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
|
NM_000179.3(MSH6):c.-18G>T
|
rs199913053
|
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_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
|
NM_000321.3(RB1):c.1140C>T (p.Asn380=)
|
rs117865557
|
0.00029
|
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
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_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
|
NM_000540.3(RYR1):c.4026C>A (p.Ser1342Arg)
|
rs182004703
|
0.00029
|
|
NM_000540.3(RYR1):c.79G>A (p.Val27Met)
|
rs143481004
|
0.00029
|
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
|
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=)
|
rs149980738
|
0.00029
|
|
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)
|
rs142654744
|
0.00029
|
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00029
|
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
|
NM_020975.6(RET):c.1050C>T (p.Thr350=)
|
rs142188675
|
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_000069.3(CACNA1S):c.4114-3C>T
|
rs182873269
|
0.00028
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
rs5742904
|
0.00028
|
|
NM_000531.6(OTC):c.941A>C (p.Glu314Ala)
|
rs137899554
|
0.00028
|
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00028
|
|
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)
|
rs200780880
|
0.00028
|
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00028
|
|
NM_017841.4(SDHAF2):c.97C>T (p.Arg33Cys)
|
rs144867876
|
0.00028
|
|
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)
|
rs192620988
|
0.00027
|
|
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)
|
rs372456815
|
0.00027
|
|
NM_000069.3(CACNA1S):c.1395C>T (p.Asp465=)
|
rs189129662
|
0.00027
|
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
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.1491A>G (p.Pro497=)
|
rs61754117
|
0.00027
|
|
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly)
|
rs149984626
|
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_000548.5(TSC2):c.3611-10G>A
|
rs372045362
|
0.00027
|
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00027
|
|
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)
|
rs148893135
|
0.00027
|
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00027
|
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00027
|
|
NM_024426.6(WT1):c.1182C>T (p.Arg394=)
|
rs147939483
|
0.00027
|
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
|
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)
|
rs146623472
|
0.00026
|
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
|
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)
|
rs28897730
|
0.00026
|
|
NM_000059.4(BRCA2):c.4813G>A (p.Val1605Ile)
|
rs786201175
|
0.00026
|
|
NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=)
|
rs200487405
|
0.00026
|
|
NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp)
|
rs141618437
|
0.00026
|
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
|
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)
|
rs145040593
|
0.00026
|
|
NM_000138.5(FBN1):c.539-15del
|
rs193922211
|
0.00026
|
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
|
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)
|
rs397515922
|
0.00026
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
rs143992984
|
0.00026
|
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
|
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)
|
rs370966353
|
0.00026
|
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
|
NM_005902.4(SMAD3):c.207-11C>T
|
rs148430981
|
0.00026
|
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
|
NM_024422.6(DSC2):c.631-13dup
|
rs551337657
|
0.00026
|
|
NC_000019.10:g.11089461G>A
|
rs879254376
|
0.00025
|
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00025
|
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
|
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg)
|
rs145173864
|
0.00025
|
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
|
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)
|
rs80358674
|
0.00025
|
|
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)
|
rs55794205
|
0.00025
|
|
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile)
|
rs376504548
|
0.00025
|
|
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)
|
rs137853962
|
0.00025
|
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
|
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)
|
rs144336148
|
0.00025
|
|
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=)
|
rs149471411
|
0.00025
|
|
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser)
|
rs143398211
|
0.00025
|
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
|
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=)
|
rs45517307
|
0.00025
|
|
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)
|
rs367992907
|
0.00025
|
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
|
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=)
|
rs146030104
|
0.00025
|
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00025
|
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00025
|
|
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)
|
rs28897688
|
0.00025
|
|
NM_007294.4(BRCA1):c.5333-304G>A
|
rs55633264
|
0.00025
|
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00025
|
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00025
|
|
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)
|
rs550707862
|
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_000051.4(ATM):c.6108T>C (p.Tyr2036=)
|
rs3092826
|
0.00024
|
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00024
|
|
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)
|
rs41293521
|
0.00024
|
|
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys)
|
rs147392278
|
0.00024
|
|
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)
|
rs200625851
|
0.00024
|
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00024
|
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00024
|
|
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=)
|
rs750335699
|
0.00024
|
|
NM_001370259.2(MEN1):c.-6G>A
|
rs768088337
|
0.00024
|
|
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln)
|
rs148938946
|
0.00024
|
|
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)
|
rs146228576
|
0.00024
|
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00024
|
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
0.00024
|
|
NM_007294.4(BRCA1):c.4358-10C>T
|
rs80358111
|
0.00024
|
|
NM_020975.6(RET):c.2943C>T (p.Tyr981=)
|
rs147318495
|
0.00024
|
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00024
|
|
NM_000038.6(APC):c.1488A>T (p.Thr496=)
|
rs9282599
|
0.00023
|
|
NM_000038.6(APC):c.5274T>A (p.Ser1758=)
|
rs199600387
|
0.00023
|
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
|
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val)
|
rs35335654
|
0.00023
|
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
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_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)
|
rs149455643
|
0.00023
|
|
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=)
|
rs202061237
|
0.00023
|
|
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)
|
rs149866955
|
0.00023
|
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00023
|
|
NM_004360.5(CDH1):c.2412C>T (p.Pro804=)
|
rs202075199
|
0.00023
|
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
|
NM_016203.4(PRKAG2):c.1585-4G>A
|
rs373649956
|
0.00023
|
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
|
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp)
|
rs202241382
|
0.00023
|
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00023
|
|
NM_000038.6(APC):c.6526T>C (p.Leu2176=)
|
rs183468041
|
0.00022
|
|
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)
|
rs200324179
|
0.00022
|
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
|
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His)
|
rs4915212
|
0.00022
|
|
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=)
|
rs141717649
|
0.00022
|
|
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His)
|
rs146179135
|
0.00022
|
|
NM_000249.4(MLH1):c.307-19A>G
|
rs121909451
|
0.00022
|
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
|
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)
|
rs199473113
|
0.00022
|
|
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
|
rs199473603
|
0.00022
|
|
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp)
|
rs118203483
|
0.00022
|
|
NM_000527.5(LDLR):c.1705+18C>A
|
rs186896947
|
0.00022
|
|
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=)
|
rs377282283
|
0.00022
|
|
NM_000540.3(RYR1):c.548C>T (p.Thr183Ile)
|
rs150038701
|
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_002474.3(MYH11):c.1078G>A (p.Val360Ile)
|
rs111677442
|
0.00022
|
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
|
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)
|
rs115817750
|
0.00022
|
|
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=)
|
rs80356833
|
0.00022
|
|
NM_000038.6(APC):c.1419G>A (p.Gln473=)
|
rs141579422
|
0.00021
|
|
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp)
|
rs140493115
|
0.00021
|
|
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)
|
rs376494248
|
0.00021
|
|
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)
|
rs2235011
|
0.00021
|
|
NM_000051.4(ATM):c.3403-15_3403-14insTA
|
rs1555091084
|
0.00021
|
|
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)
|
rs56354559
|
0.00021
|
|
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr)
|
rs139289704
|
0.00021
|
|
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=)
|
rs11571654
|
0.00021
|
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
|
NM_000069.3(CACNA1S):c.1949-7C>T
|
rs368564115
|
0.00021
|
|
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala)
|
rs200765341
|
0.00021
|
|
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met)
|
rs200665694
|
0.00021
|
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00021
|
|
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)
|
rs397515985
|
0.00021
|
|
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val)
|
rs199473192
|
0.00021
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
rs139791325
|
0.00021
|
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
|
NM_000540.3(RYR1):c.7881G>A (p.Val2627=)
|
rs201877620
|
0.00021
|
|
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)
|
rs144165984
|
0.00021
|
|
NM_000548.5(TSC2):c.2427C>T (p.Ser809=)
|
rs182849638
|
0.00021
|
|
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)
|
rs149342980
|
0.00021
|
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
|
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)
|
rs565502802
|
0.00021
|
|
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser)
|
rs372586694
|
0.00021
|
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
|
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp)
|
rs80356920
|
0.00021
|
|
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)
|
rs80357090
|
0.00021
|
|
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met)
|
rs148056866
|
0.00021
|
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
|
NM_032043.3(BRIP1):c.852C>T (p.Val284=)
|
rs144940449
|
0.00021
|
|
NM_000059.4(BRCA2):c.5020A>G (p.Ser1674Gly)
|
rs80358725
|
0.00020
|
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
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_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00020
|
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
|
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn)
|
rs145629242
|
0.00020
|
|
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=)
|
rs377664510
|
0.00020
|
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00020
|
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00020
|
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00020
|
|
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)
|
rs369588942
|
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_000051.4(ATM):c.2495G>A (p.Arg832His)
|
rs199875915
|
0.00019
|
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
|
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=)
|
rs187343742
|
0.00019
|
|
NM_000053.4(ATP7B):c.4334C>T (p.Ala1445Val)
|
rs553861183
|
0.00019
|
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00019
|
|
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys)
|
rs80358521
|
0.00019
|
|
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)
|
rs55847618
|
0.00019
|
|
NM_000069.3(CACNA1S):c.1620-15C>T
|
rs374877250
|
0.00019
|
|
NM_000069.3(CACNA1S):c.3256-12T>A
|
rs374335683
|
0.00019
|
|
NM_000069.3(CACNA1S):c.5531G>C (p.Ser1844Thr)
|
rs145195149
|
0.00019
|
|
NM_000077.5(CDKN2A):c.51C>A (p.Ala17=)
|
rs764362225
|
0.00019
|
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
|
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)
|
rs25397
|
0.00019
|
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
|
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)
|
rs63750006
|
0.00019
|
|
NM_000251.3(MSH2):c.481G>A (p.Val161Ile)
|
rs149511545
|
0.00019
|
|
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)
|
rs376736293
|
0.00019
|
|
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe)
|
rs375776406
|
0.00019
|
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
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_000527.5(LDLR):c.1009G>A (p.Glu337Lys)
|
rs539080792
|
0.00019
|
|
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
|
rs141673997
|
0.00019
|
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00019
|
|
NM_000540.3(RYR1):c.2160C>G (p.Leu720=)
|
rs200914778
|
0.00019
|
|
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)
|
rs748568687
|
0.00019
|
|
NM_000540.3(RYR1):c.2933C>T (p.Pro978Leu)
|
rs200124278
|
0.00019
|
|
NM_000540.3(RYR1):c.3618C>T (p.Asp1206=)
|
rs191970833
|
0.00019
|
|
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=)
|
rs374630822
|
0.00019
|
|
NM_000540.3(RYR1):c.7141G>A (p.Glu2381Lys)
|
rs148426762
|
0.00019
|
|
NM_000540.3(RYR1):c.89A>T (p.Glu30Val)
|
rs145771708
|
0.00019
|
|
NM_000540.3(RYR1):c.9886C>G (p.Leu3296Val)
|
rs368433841
|
0.00019
|
|
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)
|
rs35993958
|
0.00019
|
|
NM_000548.5(TSC2):c.1377C>T (p.Gly459=)
|
rs45517170
|
0.00019
|
|
NM_000548.5(TSC2):c.251C>T (p.Ala84Val)
|
rs35660529
|
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_001048174.2(MUTYH):c.1219C>T (p.His407Tyr)
|
rs141432759
|
0.00019
|
|
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
|
rs144421849
|
0.00019
|
|
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)
|
rs200375156
|
0.00019
|
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00019
|
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
|
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys)
|
rs55650082
|
0.00019
|
|
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=)
|
rs397517263
|
0.00019
|
|
NM_020975.6(RET):c.2052G>A (p.Pro684=)
|
rs145122337
|
0.00019
|
|
NM_000038.6(APC):c.4237A>G (p.Met1413Val)
|
rs141519952
|
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_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)
|
rs757549770
|
0.00018
|
|
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)
|
rs11571653
|
0.00018
|
|
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)
|
rs80358589
|
0.00018
|
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00018
|
|
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala)
|
rs377459546
|
0.00018
|
|
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val)
|
rs201784750
|
0.00018
|
|
NM_000138.5(FBN1):c.3590-8T>C
|
rs140600
|
0.00018
|
|
NM_000138.5(FBN1):c.76G>C (p.Asp26His)
|
rs146267697
|
0.00018
|
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
|
NM_000527.5(LDLR):c.345C>G (p.Arg115=)
|
rs150144164
|
0.00018
|
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
|
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=)
|
rs370350821
|
0.00018
|
|
NM_000540.3(RYR1):c.8733C>A (p.Leu2911=)
|
rs200427576
|
0.00018
|
|
NM_000540.3(RYR1):c.9896G>T (p.Gly3299Val)
|
rs376790408
|
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_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00018
|
|
NM_001370259.2(MEN1):c.762G>A (p.Leu254=)
|
rs199909967
|
0.00018
|
|
NM_001943.5(DSG2):c.2643C>T (p.Thr881=)
|
rs180695545
|
0.00018
|
|
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)
|
rs188516326
|
0.00018
|
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00018
|
|
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)
|
rs80357087
|
0.00018
|
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
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.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00017
|
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00017
|
|
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly)
|
rs376398239
|
0.00017
|
|
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly)
|
rs151218760
|
0.00017
|
|
NM_000069.3(CACNA1S):c.3609C>T (p.Asp1203=)
|
rs374324793
|
0.00017
|
|
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
|
rs111567071
|
0.00017
|
|
NM_000138.5(FBN1):c.4211-10C>T
|
rs28730793
|
0.00017
|
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00017
|
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00017
|
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
|
NM_000540.3(RYR1):c.14061G>A (p.Leu4687=)
|
rs201629205
|
0.00017
|
|
NM_000540.3(RYR1):c.14304-10G>A
|
rs368201693
|
0.00017
|
|
NM_000540.3(RYR1):c.7836-7C>T
|
rs370713261
|
0.00017
|
|
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=)
|
rs566157997
|
0.00017
|
|
NM_002474.3(MYH11):c.1212G>C (p.Gly404=)
|
rs201198815
|
0.00017
|
|
NM_004656.4(BAP1):c.376-4G>A
|
rs369277958
|
0.00017
|
|
NM_004656.4(BAP1):c.404C>T (p.Pro135Leu)
|
rs374928824
|
0.00017
|
|
NM_020975.6(RET):c.1118C>T (p.Ala373Val)
|
rs546866208
|
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_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
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_000053.4(ATP7B):c.445G>A (p.Val149Met)
|
rs200606656
|
0.00016
|
|
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)
|
rs45525041
|
0.00016
|
|
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=)
|
rs144883479
|
0.00016
|
|
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=)
|
rs528563981
|
0.00016
|
|
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp)
|
rs138541733
|
0.00016
|
|
NM_000069.3(CACNA1S):c.2490+5C>T
|
rs369813191
|
0.00016
|
|
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys)
|
rs201205904
|
0.00016
|
|
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu)
|
rs140330831
|
0.00016
|
|
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=)
|
rs112164939
|
0.00016
|
|
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)
|
rs371583734
|
0.00016
|
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00016
|
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
|
NM_000179.3(MSH6):c.866G>A (p.Gly289Asp)
|
rs368318845
|
0.00016
|
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
|
NM_000268.4(NF2):c.613A>G (p.Met205Val)
|
rs141629512
|
0.00016
|
|
NM_000314.8(PTEN):c.234C>T (p.Thr78=)
|
rs35917308
|
0.00016
|
|
NM_000321.3(RB1):c.113G>A (p.Gly38Asp)
|
rs766529534
|
0.00016
|
|
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)
|
rs140352085
|
0.00016
|
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
|
NM_000527.5(LDLR):c.564C>T (p.Tyr188=)
|
rs121908034
|
0.00016
|
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
|
NM_000540.3(RYR1):c.14919G>A (p.Pro4973=)
|
rs535386378
|
0.00016
|
|
NM_000540.3(RYR1):c.2223C>T (p.Asp741=)
|
rs150831055
|
0.00016
|
|
NM_000540.3(RYR1):c.4257C>T (p.Asn1419=)
|
rs36042816
|
0.00016
|
|
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)
|
rs776194441
|
0.00016
|
|
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)
|
rs149185729
|
0.00016
|
|
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)
|
rs144777676
|
0.00016
|
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
|
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu)
|
rs201588259
|
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_001005242.3(PKP2):c.1504G>A (p.Ala502Thr)
|
rs368740836
|
0.00016
|
|
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr)
|
rs139215336
|
0.00016
|
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
|
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val)
|
rs185720909
|
0.00016
|
|
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)
|
rs553907248
|
0.00016
|
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
|
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=)
|
rs200062984
|
0.00016
|
|
NM_004656.4(BAP1):c.534C>T (p.Gly178=)
|
rs200285587
|
0.00016
|
|
NM_004656.4(BAP1):c.651C>T (p.Ala217=)
|
rs202170860
|
0.00016
|
|
NM_005359.6(SMAD4):c.582A>G (p.Thr194=)
|
rs145805120
|
0.00016
|
|
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)
|
rs202094530
|
0.00016
|
|
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)
|
rs80357075
|
0.00016
|
|
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)
|
rs145616631
|
0.00016
|
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00016
|
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00016
|
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00016
|
|
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)
|
rs140804406
|
0.00016
|
|
NM_058216.3(RAD51C):c.744T>C (p.Phe248=)
|
rs150142859
|
0.00016
|
|
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)
|
rs143026267
|
0.00016
|
|
NM_000038.6(APC):c.2586C>G (p.Asn862Lys)
|
rs147972247
|
0.00015
|
|
NM_000038.6(APC):c.6985A>G (p.Ile2329Val)
|
rs146048493
|
0.00015
|
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00015
|
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00015
|
|
NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu)
|
rs55773834
|
0.00015
|
|
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)
|
rs147112322
|
0.00015
|
|
NM_000069.3(CACNA1S):c.258+6A>G
|
rs376899610
|
0.00015
|
|
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=)
|
rs189797100
|
0.00015
|
|
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=)
|
rs147646714
|
0.00015
|
|
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)
|
rs112371422
|
0.00015
|
|
NM_000138.5(FBN1):c.1371C>G (p.Arg457=)
|
rs25436
|
0.00015
|
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
|
NM_000138.5(FBN1):c.863-3C>T
|
rs955955089
|
0.00015
|
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00015
|
|
NM_000314.8(PTEN):c.802-12T>C
|
rs587781129
|
0.00015
|
|
NM_000432.4(MYL2):c.243G>T (p.Val81=)
|
rs368851472
|
0.00015
|
|
NM_000527.5(LDLR):c.1491T>C (p.Thr497=)
|
rs145252288
|
0.00015
|
|
NM_000527.5(LDLR):c.165C>G (p.Gly55=)
|
rs150644181
|
0.00015
|
|
NM_000527.5(LDLR):c.2358C>T (p.Ser786=)
|
rs183255090
|
0.00015
|
|
NM_000540.3(RYR1):c.10441-10G>A
|
rs200939091
|
0.00015
|
|
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)
|
rs146754847
|
0.00015
|
|
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=)
|
rs144350050
|
0.00015
|
|
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)
|
rs148041292
|
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.552C>T (p.Val184=)
|
rs199991910
|
0.00015
|
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00015
|
|
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)
|
rs147480076
|
0.00015
|
|
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)
|
rs200165598
|
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_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00015
|
|
NM_001943.5(DSG2):c.875G>A (p.Arg292His)
|
rs185821167
|
0.00015
|
|
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln)
|
rs149241435
|
0.00015
|
|
NM_004360.5(CDH1):c.394G>A (p.Val132Ile)
|
rs142498771
|
0.00015
|
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00015
|
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
|
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val)
|
rs200642204
|
0.00014
|
|
NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met)
|
rs376112375
|
0.00014
|
|
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)
|
rs200563529
|
0.00014
|
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
|
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)
|
rs150646872
|
0.00014
|
|
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)
|
rs142102094
|
0.00014
|
|
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln)
|
rs377474103
|
0.00014
|
|
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu)
|
rs201880122
|
0.00014
|
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
|
NM_000138.5(FBN1):c.6380-3A>G
|
rs567703513
|
0.00014
|
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00014
|
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
|
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)
|
rs397515869
|
0.00014
|
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
|
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)
|
rs377403073
|
0.00014
|
|
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=)
|
rs532996422
|
0.00014
|
|
NM_000268.4(NF2):c.107A>G (p.Asn36Ser)
|
rs372279458
|
0.00014
|
|
NM_000321.3(RB1):c.1156A>G (p.Met386Val)
|
rs564780653
|
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_000465.4(BARD1):c.279A>G (p.Gln93=)
|
rs370000575
|
0.00014
|
|
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=)
|
rs2229149
|
0.00014
|
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
|
NM_000540.3(RYR1):c.2319C>T (p.Asp773=)
|
rs374924686
|
0.00014
|
|
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=)
|
rs375402078
|
0.00014
|
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
|
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=)
|
rs771306571
|
0.00014
|
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
|
NM_000551.4(VHL):c.246C>T (p.Arg82=)
|
rs587780993
|
0.00014
|
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
|
NM_001370259.2(MEN1):c.1351-4C>T
|
rs764408631
|
0.00014
|
|
NM_001613.4(ACTA2):c.936C>T (p.Ala312=)
|
rs200213764
|
0.00014
|
|
NM_002474.3(MYH11):c.1635G>C (p.Thr545=)
|
rs773802963
|
0.00014
|
|
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)
|
rs112948385
|
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_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.-4C>T
|
rs374938148
|
0.00014
|
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
|
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)
|
rs41293447
|
0.00014
|
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
|
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.2606C>G (p.Ala869Gly)
|
rs145513717
|
0.00013
|
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
|
NM_000053.4(ATP7B):c.1544-12T>C
|
rs201167060
|
0.00013
|
|
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=)
|
rs369620062
|
0.00013
|
|
NM_000053.4(ATP7B):c.3243+5G>A
|
rs373193482
|
0.00013
|
|
NM_000053.4(ATP7B):c.813C>T (p.Cys271=)
|
rs572147914
|
0.00013
|
|
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)
|
rs142243359
|
0.00013
|
|
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)
|
rs80358726
|
0.00013
|
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00013
|
|
NM_000059.4(BRCA2):c.68-3T>G
|
rs786201770
|
0.00013
|
|
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys)
|
rs138364213
|
0.00013
|
|
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys)
|
rs143933255
|
0.00013
|
|
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe)
|
rs556751671
|
0.00013
|
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00013
|
|
NM_000138.5(FBN1):c.6054C>T (p.Val2018=)
|
rs542953863
|
0.00013
|
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
|
NM_000179.3(MSH6):c.102C>A (p.Ala34=)
|
rs201132087
|
0.00013
|
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
|
NM_000251.3(MSH2):c.505A>G (p.Ile169Val)
|
rs63750716
|
0.00013
|
|
NM_000268.4(NF2):c.1439C>T (p.Thr480Met)
|
rs145666157
|
0.00013
|
|
NM_000268.4(NF2):c.652G>A (p.Gly218Ser)
|
rs776818377
|
0.00013
|
|
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys)
|
rs4151534
|
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.659T>C (p.Leu220Ser)
|
rs138593305
|
0.00013
|
|
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val)
|
rs555292896
|
0.00013
|
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
|
NM_000535.7(PMS2):c.1864A>G (p.Met622Val)
|
rs370853512
|
0.00013
|
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
|
NM_000540.3(RYR1):c.11450A>T (p.Asp3817Val)
|
rs372491219
|
0.00013
|
|
NM_000540.3(RYR1):c.11517C>T (p.Ser3839=)
|
rs151239950
|
0.00013
|
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
|
NM_000540.3(RYR1):c.6251G>A (p.Arg2084Gln)
|
rs143681974
|
0.00013
|
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
|
NM_000540.3(RYR1):c.7672G>A (p.Val2558Met)
|
rs771523641
|
0.00013
|
|
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=)
|
rs368063600
|
0.00013
|
|
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)
|
rs200797340
|
0.00013
|
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
|
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=)
|
rs56338790
|
0.00013
|
|
NM_000551.4(VHL):c.-64C>T
|
rs772944298
|
0.00013
|
|
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)
|
rs138780791
|
0.00013
|
|
NM_001005242.3(PKP2):c.1842A>G (p.Gln614=)
|
rs138901574
|
0.00013
|
|
NM_001035.3(RYR2):c.11811C>T (p.His3937=)
|
rs370924416
|
0.00013
|
|
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)
|
rs397516524
|
0.00013
|
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00013
|
|
NM_004360.5(CDH1):c.1020G>A (p.Thr340=)
|
rs61747632
|
0.00013
|
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
|
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)
|
rs80357024
|
0.00013
|
|
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu)
|
rs4986847
|
0.00013
|
|
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)
|
rs41293451
|
0.00013
|
|
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)
|
rs144857453
|
0.00013
|
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
|
NM_000038.6(APC):c.2204C>T (p.Ala735Val)
|
rs147655929
|
0.00012
|
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
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_000053.4(ATP7B):c.2475G>A (p.Val825=)
|
rs373528664
|
0.00012
|
|
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=)
|
rs145887771
|
0.00012
|
|
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr)
|
rs199773340
|
0.00012
|
|
NM_000053.4(ATP7B):c.540C>T (p.Asn180=)
|
rs537892210
|
0.00012
|
|
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val)
|
rs55638633
|
0.00012
|
|
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val)
|
rs146885451
|
0.00012
|
|
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)
|
rs146696748
|
0.00012
|
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
|
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
|
rs587782651
|
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_000268.4(NF2):c.465C>T (p.Pro155=)
|
rs374911526
|
0.00012
|
|
NM_000321.3(RB1):c.2570G>A (p.Arg857His)
|
rs144668210
|
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_000368.5(TSC1):c.467A>C (p.Asp156Ala)
|
rs893232039
|
0.00012
|
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00012
|
|
NM_000455.5(STK11):c.920+12C>T
|
rs186518799
|
0.00012
|
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
|
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
|
rs113972139
|
0.00012
|
|
NM_000527.5(LDLR):c.2389+8C>T
|
rs747170426
|
0.00012
|
|
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys)
|
rs376042544
|
0.00012
|
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00012
|
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00012
|
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
|
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=)
|
rs2302296
|
0.00012
|
|
NM_000540.3(RYR1):c.13660-10T>C
|
rs188836987
|
0.00012
|
|
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu)
|
rs199837883
|
0.00012
|
|
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser)
|
rs777365708
|
0.00012
|
|
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)
|
rs745404679
|
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_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00012
|
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00012
|
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
|
NM_020975.6(RET):c.398G>A (p.Arg133His)
|
rs138265837
|
0.00012
|
|
NM_020975.6(RET):c.626-7T>C
|
rs768246167
|
0.00012
|
|
NM_024426.6(WT1):c.1017-15T>C
|
rs374441355
|
0.00012
|
|
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr)
|
rs200875161
|
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_000038.6(APC):c.277C>G (p.Leu93Val)
|
rs201567345
|
0.00011
|
|
NM_000038.6(APC):c.3875C>T (p.Thr1292Met)
|
rs371113837
|
0.00011
|
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00011
|
|
NM_000038.6(APC):c.7621A>G (p.Ile2541Val)
|
rs587778033
|
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_000053.4(ATP7B):c.-676A>G
|
rs1021025464
|
0.00011
|
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00011
|
|
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
|
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)
|
rs80358833
|
0.00011
|
|
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)
|
rs79483201
|
0.00011
|
|
NM_000059.4(BRCA2):c.9501+9A>C
|
rs81002867
|
0.00011
|
|
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val)
|
rs148770452
|
0.00011
|
|
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His)
|
rs370861322
|
0.00011
|
|
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala)
|
rs369192794
|
0.00011
|
|
NM_000069.3(CACNA1S):c.3415-13G>T
|
rs755431424
|
0.00011
|
|
NM_000069.3(CACNA1S):c.3796-14C>T
|
rs377210987
|
0.00011
|
|
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)
|
rs757433005
|
0.00011
|
|
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=)
|
rs146619460
|
0.00011
|
|
NM_000069.3(CACNA1S):c.4858C>G (p.Pro1620Ala)
|
rs199691275
|
0.00011
|
|
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr)
|
rs145340252
|
0.00011
|
|
NM_000069.3(CACNA1S):c.951C>T (p.Leu317=)
|
rs773209639
|
0.00011
|
|
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu)
|
rs373838193
|
0.00011
|
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00011
|
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
|
NM_000090.4(COL3A1):c.838G>A (p.Ala280Thr)
|
rs142042452
|
0.00011
|
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00011
|
|
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=)
|
rs369058466
|
0.00011
|
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
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_000249.4(MLH1):c.19G>T (p.Val7Phe)
|
rs730881746
|
0.00011
|
|
NM_000251.3(MSH2):c.1387-4G>C
|
rs376796243
|
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_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
|
NM_000256.3(MYBPC3):c.909C>T (p.Asp303=)
|
rs200713257
|
0.00011
|
|
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
|
NM_000268.4(NF2):c.1385G>A (p.Arg462His)
|
rs373650983
|
0.00011
|
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
|
NM_000321.3(RB1):c.59C>T (p.Pro20Leu)
|
rs587778637
|
0.00011
|
|
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln)
|
rs118203692
|
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.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
|
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
|
rs376207800
|
0.00011
|
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
|
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)
|
rs67939655
|
0.00011
|
|
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His)
|
rs370236216
|
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_000540.3(RYR1):c.14196C>A (p.Ile4732=)
|
rs201670423
|
0.00011
|
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
|
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=)
|
rs375640581
|
0.00011
|
|
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=)
|
rs202160739
|
0.00011
|
|
NM_000546.6(TP53):c.97-9C>T
|
rs202217267
|
0.00011
|
|
NM_000546.6(TP53):c.993+223T>G
|
rs3021068
|
0.00011
|
|
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys)
|
rs145470784
|
0.00011
|
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00011
|
|
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val)
|
rs141837529
|
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_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
0.00011
|
|
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=)
|
rs377412651
|
0.00011
|
|
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)
|
rs142454490
|
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_004415.4(DSP):c.3646A>G (p.Ile1216Val)
|
rs199795359
|
0.00011
|
|
NM_004656.4(BAP1):c.1212C>G (p.Asp404Glu)
|
rs140998455
|
0.00011
|
|
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg)
|
rs576538858
|
0.00011
|
|
NM_005159.5(ACTC1):c.130-9T>C
|
rs147406641
|
0.00011
|
|
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=)
|
rs41286292
|
0.00011
|
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
0.00011
|
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
|
NM_007294.4(BRCA1):c.5152+20T>A
|
rs376836050
|
0.00011
|
|
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)
|
rs62625298
|
0.00011
|
|
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn)
|
rs55975699
|
0.00011
|
|
NM_020975.6(RET):c.1437C>T (p.Ala479=)
|
rs576806356
|
0.00011
|
|
NM_020975.6(RET):c.2601G>T (p.Glu867Asp)
|
rs141459368
|
0.00011
|
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
|
NM_000038.6(APC):c.3786T>C (p.Tyr1262=)
|
rs147411334
|
0.00010
|
|
NM_000038.6(APC):c.388A>G (p.Ser130Gly)
|
rs150973053
|
0.00010
|
|
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)
|
rs730881342
|
0.00010
|
|
NM_000051.4(ATM):c.2466+7A>G
|
rs55812024
|
0.00010
|
|
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)
|
rs587782239
|
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.6572+11C>T
|
rs368049107
|
0.00010
|
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
|
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)
|
rs368545738
|
0.00010
|
|
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala)
|
rs80358387
|
0.00010
|
|
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala)
|
rs202217590
|
0.00010
|
|
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met)
|
rs200334886
|
0.00010
|
|
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=)
|
rs140924492
|
0.00010
|
|
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)
|
rs747618077
|
0.00010
|
|
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)
|
rs183195890
|
0.00010
|
|
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)
|
rs200434921
|
0.00010
|
|
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His)
|
rs138533702
|
0.00010
|
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
|
NM_000138.5(FBN1):c.2892C>T (p.Asp964=)
|
rs116945525
|
0.00010
|
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
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.335A>G (p.Asn112Ser)
|
rs587779934
|
0.00010
|
|
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)
|
rs147852216
|
0.00010
|
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00010
|
|
NM_000257.4(MYH7):c.4170-8C>A
|
rs199632504
|
0.00010
|
|
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg)
|
rs766339217
|
0.00010
|
|
NM_000314.8(PTEN):c.579G>A (p.Leu193=)
|
rs568851024
|
0.00010
|
|
NM_000321.3(RB1):c.2463A>G (p.Thr821=)
|
rs370088029
|
0.00010
|
|
NM_000321.3(RB1):c.367A>G (p.Asn123Asp)
|
rs149800437
|
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_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
rs200990725
|
0.00010
|
|
NM_000531.6(OTC):c.1006-14T>C
|
rs188215770
|
0.00010
|
|
NM_000540.3(RYR1):c.10348-6C>G
|
rs193922837
|
0.00010
|
|
NM_000540.3(RYR1):c.10440+4G>A
|
rs373523691
|
0.00010
|
|
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)
|
rs138593495
|
0.00010
|
|
NM_000540.3(RYR1):c.11691T>C (p.Asp3897=)
|
rs201588544
|
0.00010
|
|
NM_000540.3(RYR1):c.14670G>C (p.Val4890=)
|
rs773080803
|
0.00010
|
|
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr)
|
rs142474192
|
0.00010
|
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
|
NM_000540.3(RYR1):c.4758G>A (p.Pro1586=)
|
rs374222028
|
0.00010
|
|
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)
|
rs193922808
|
0.00010
|
|
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn)
|
rs141298868
|
0.00010
|
|
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=)
|
rs45517331
|
0.00010
|
|
NM_001018005.2(TPM1):c.522C>T (p.Ser174=)
|
rs200173919
|
0.00010
|
|
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)
|
rs200574919
|
0.00010
|
|
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)
|
rs193922626
|
0.00010
|
|
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)
|
rs587780744
|
0.00010
|
|
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)
|
rs564930066
|
0.00010
|
|
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)
|
rs147754007
|
0.00010
|
|
NM_001048174.2(MUTYH):c.640G>T (p.Val214Leu)
|
rs769766446
|
0.00010
|
|
NM_001276345.2(TNNT2):c.720-4G>T
|
rs201753429
|
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_002474.3(MYH11):c.5269G>A (p.Asp1757Asn)
|
rs752996609
|
0.00010
|
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
|
NM_003000.3(SDHB):c.113G>A (p.Arg38His)
|
rs143058777
|
0.00010
|
|
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=)
|
rs78843072
|
0.00010
|
|
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg)
|
rs370004702
|
0.00010
|
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
|
NM_007194.4(CHEK2):c.1095+19G>A
|
rs200020484
|
0.00010
|
|
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)
|
rs70953661
|
0.00010
|
|
NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu)
|
rs149277592
|
0.00010
|
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
|
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr)
|
rs146218439
|
0.00010
|
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00010
|
|
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)
|
rs139669564
|
0.00010
|
|
NM_000038.6(APC):c.5025T>G (p.Val1675=)
|
rs876658169
|
0.00009
|
|
NM_000038.6(APC):c.5072C>T (p.Pro1691Leu)
|
rs1060503346
|
0.00009
|
|
NM_000038.6(APC):c.6525A>G (p.Thr2175=)
|
rs200151646
|
0.00009
|
|
NM_000038.6(APC):c.6948A>G (p.Pro2316=)
|
rs202144406
|
0.00009
|
|
NM_000038.6(APC):c.7781C>G (p.Ser2594Cys)
|
rs543396310
|
0.00009
|
|
NM_000038.6(APC):c.95A>G (p.Asn32Ser)
|
rs539108537
|
0.00009
|
|
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)
|
rs3218684
|
0.00009
|
|
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)
|
rs201719927
|
0.00009
|
|
NM_000051.4(ATM):c.332-3T>C
|
rs376116157
|
0.00009
|
|
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)
|
rs183214437
|
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.5005+7_5005+8del
|
rs587780626
|
0.00009
|
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
|
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)
|
rs587778079
|
0.00009
|
|
NM_000051.4(ATM):c.8851-3T>G
|
rs748874219
|
0.00009
|
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
0.00009
|
|
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=)
|
rs373102009
|
0.00009
|
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00009
|
|
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly)
|
rs199924281
|
0.00009
|
|
NM_000053.4(ATP7B):c.3747G>A (p.Val1249=)
|
rs572110753
|
0.00009
|
|
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
|
rs762866453
|
0.00009
|
|
NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr)
|
rs745866259
|
0.00009
|
|
NM_000053.4(ATP7B):c.610A>G (p.Met204Val)
|
rs200605351
|
0.00009
|
|
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)
|
rs374691587
|
0.00009
|
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
|
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=)
|
rs45484897
|
0.00009
|
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
|
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)
|
rs80358874
|
0.00009
|
|
NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys)
|
rs431825347
|
0.00009
|
|
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)
|
rs74047012
|
0.00009
|
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
|
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr)
|
rs150218077
|
0.00009
|
|
NM_000069.3(CACNA1S):c.1470G>A (p.Gln490=)
|
rs373712202
|
0.00009
|
|
NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His)
|
rs748711395
|
0.00009
|
|
NM_000069.3(CACNA1S):c.1881C>T (p.Tyr627=)
|
rs145689664
|
0.00009
|
|
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile)
|
rs138837077
|
0.00009
|
|
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile)
|
rs202240111
|
0.00009
|
|
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)
|
rs756750256
|
0.00009
|
|
NM_000090.4(COL3A1):c.217G>C (p.Asp73His)
|
rs200246388
|
0.00009
|
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
|
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00009
|
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00009
|
|
NM_000169.3(GLA):c.865A>G (p.Ile289Val)
|
rs140329381
|
0.00009
|
|
NM_000179.3(MSH6):c.3439-10T>A
|
rs730881819
|
0.00009
|
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
|
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)
|
rs150440246
|
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.1505A>G (p.Asp502Gly)
|
rs148192104
|
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.382C>G (p.Leu128Val)
|
rs145649774
|
0.00009
|
|
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val)
|
rs121913644
|
0.00009
|
|
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)
|
rs145677314
|
0.00009
|
|
NM_000268.4(NF2):c.1540A>G (p.Met514Val)
|
rs201527155
|
0.00009
|
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
|
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)
|
rs148992508
|
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_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
|
rs144467873
|
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.1127C>T (p.Ser376Leu)
|
rs587782333
|
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_000527.5(LDLR):c.1538G>A (p.Arg513Lys)
|
rs879254934
|
0.00009
|
|
NM_000527.5(LDLR):c.1586+15C>T
|
rs371716068
|
0.00009
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
rs201573863
|
0.00009
|
|
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)
|
rs774698247
|
0.00009
|
|
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461
|
0.00009
|
|
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)
|
rs151207122
|
0.00009
|
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00009
|
|
NM_000540.3(RYR1):c.10664A>T (p.Asn3555Ile)
|
rs199689862
|
0.00009
|
|
NM_000540.3(RYR1):c.13849G>A (p.Gly4617Arg)
|
rs202226983
|
0.00009
|
|
NM_000540.3(RYR1):c.1593C>T (p.Gly531=)
|
rs927675372
|
0.00009
|
|
NM_000540.3(RYR1):c.4185C>T (p.Val1395=)
|
rs761955179
|
0.00009
|
|
NM_000540.3(RYR1):c.6549-9C>T
|
rs370994573
|
0.00009
|
|
NM_000540.3(RYR1):c.9063G>A (p.Pro3021=)
|
rs200068725
|
0.00009
|
|
NM_000546.6(TP53):c.474C>T (p.Arg158=)
|
rs139200646
|
0.00009
|
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00009
|
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
|
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln)
|
rs140156029
|
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_002474.3(MYH11):c.5353A>T (p.Ser1785Cys)
|
rs772663756
|
0.00009
|
|
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)
|
rs201141245
|
0.00009
|
|
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)
|
rs768385200
|
0.00009
|
|
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met)
|
rs55932635
|
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.1888C>G (p.Leu630Val)
|
rs2276331
|
0.00009
|
|
NM_004360.5(CDH1):c.1996A>C (p.Asn666His)
|
rs150427791
|
0.00009
|
|
NM_004360.5(CDH1):c.387+5G>A
|
rs113055163
|
0.00009
|
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
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_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
|
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys)
|
rs28897673
|
0.00009
|
|
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
|
rs80357191
|
0.00009
|
|
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)
|
rs140920079
|
0.00009
|
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00009
|
|
NM_020975.6(RET):c.961G>A (p.Gly321Arg)
|
rs377767388
|
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.344G>T (p.Gly115Val)
|
rs145598272
|
0.00009
|
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
|
NM_058216.3(RAD51C):c.-19G>A
|
rs375889604
|
0.00009
|
|
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
|
rs368257906
|
0.00009
|
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00008
|
|
NM_000038.6(APC):c.573T>C (p.Tyr191=)
|
rs185154886
|
0.00008
|
|
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)
|
rs367905430
|
0.00008
|
|
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)
|
rs200431631
|
0.00008
|
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
0.00008
|
|
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)
|
rs566485657
|
0.00008
|
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00008
|
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00008
|
|
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=)
|
rs118093942
|
0.00008
|
|
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala)
|
rs80358899
|
0.00008
|
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00008
|
|
NM_000059.4(BRCA2):c.9872C>G (p.Ser3291Cys)
|
rs200210279
|
0.00008
|
|
NM_000069.3(CACNA1S):c.181A>G (p.Ile61Val)
|
rs147382463
|
0.00008
|
|
NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp)
|
rs199758244
|
0.00008
|
|
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=)
|
rs200898535
|
0.00008
|
|
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser)
|
rs771585795
|
0.00008
|
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
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.1742C>T (p.Pro581Leu)
|
rs63751684
|
0.00008
|
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00008
|
|
NM_000251.3(MSH2):c.1159C>T (p.Leu387Phe)
|
rs751249745
|
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.317G>A (p.Arg106Lys)
|
rs41295286
|
0.00008
|
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
|
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser)
|
rs574005462
|
0.00008
|
|
NM_000268.4(NF2):c.879T>C (p.Asn293=)
|
rs151198477
|
0.00008
|
|
NM_000321.3(RB1):c.2212-12G>A
|
rs776987458
|
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.851G>A (p.Arg284His)
|
rs151309813
|
0.00008
|
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
|
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala)
|
rs730882107
|
0.00008
|
|
NM_000527.5(LDLR):c.2179G>A (p.Val727Ile)
|
rs769247787
|
0.00008
|
|
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)
|
rs373611083
|
0.00008
|
|
NM_000535.7(PMS2):c.735G>T (p.Leu245=)
|
rs373366661
|
0.00008
|
|
NM_000535.7(PMS2):c.993C>T (p.Cys331=)
|
rs186577215
|
0.00008
|
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
|
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile)
|
rs140616359
|
0.00008
|
|
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)
|
rs142548565
|
0.00008
|
|
NM_000540.3(RYR1):c.2712G>A (p.Pro904=)
|
rs139339574
|
0.00008
|
|
NM_000540.3(RYR1):c.5289G>A (p.Pro1763=)
|
rs376482004
|
0.00008
|
|
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=)
|
rs368684717
|
0.00008
|
|
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)
|
rs111246617
|
0.00008
|
|
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln)
|
rs752144775
|
0.00008
|
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
|
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp)
|
rs751551400
|
0.00008
|
|
NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr)
|
rs147923905
|
0.00008
|
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
|
NM_001048174.2(MUTYH):c.929A>G (p.Gln310Arg)
|
rs199742231
|
0.00008
|
|
NM_001370259.2(MEN1):c.1434C>T (p.Gly478=)
|
rs200280309
|
0.00008
|
|
NM_002474.3(MYH11):c.300C>T (p.Ser100=)
|
rs111662326
|
0.00008
|
|
NM_002474.3(MYH11):c.3293+5C>T
|
rs766421052
|
0.00008
|
|
NM_002474.3(MYH11):c.3827C>T (p.Ala1276Val)
|
rs547038802
|
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_004656.4(BAP1):c.869A>G (p.Asn290Ser)
|
rs747079481
|
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_007294.4(BRCA1):c.4644G>A (p.Thr1548=)
|
rs28897692
|
0.00008
|
|
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly)
|
rs754797146
|
0.00008
|
|
NM_024422.6(DSC2):c.23G>T (p.Gly8Val)
|
rs794728063
|
0.00008
|
|
NM_024426.6(WT1):c.1017-9T>C
|
rs368486676
|
0.00008
|
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
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_174936.4(PCSK9):c.493C>T (p.Arg165Trp)
|
rs141593516
|
0.00008
|
|
NM_000038.6(APC):c.1408+3A>G
|
rs534358523
|
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.4919G>A (p.Arg1640Gln)
|
rs529480958
|
0.00007
|
|
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg)
|
rs587779804
|
0.00007
|
|
NM_000038.6(APC):c.721G>A (p.Glu241Lys)
|
rs777603154
|
0.00007
|
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
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_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
|
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)
|
rs587778075
|
0.00007
|
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
|
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu)
|
rs771789585
|
0.00007
|
|
NM_000053.4(ATP7B):c.1910A>G (p.Asn637Ser)
|
rs61733683
|
0.00007
|
|
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)
|
rs539585071
|
0.00007
|
|
NM_000053.4(ATP7B):c.2583C>T (p.Ala861=)
|
rs565717791
|
0.00007
|
|
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=)
|
rs534622837
|
0.00007
|
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
|
NM_000059.4(BRCA2):c.1644G>A (p.Gln548=)
|
rs55986646
|
0.00007
|
|
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)
|
rs80358451
|
0.00007
|
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
|
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp)
|
rs80358604
|
0.00007
|
|
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val)
|
rs56337919
|
0.00007
|
|
NM_000059.4(BRCA2):c.5529A>C (p.Ala1843=)
|
rs372951842
|
0.00007
|
|
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)
|
rs55996097
|
0.00007
|
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00007
|
|
NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys)
|
rs372188754
|
0.00007
|
|
NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn)
|
rs80359088
|
0.00007
|
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00007
|
|
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn)
|
rs112236248
|
0.00007
|
|
NM_000069.3(CACNA1S):c.1780C>T (p.Arg594Cys)
|
rs200165212
|
0.00007
|
|
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val)
|
rs138708497
|
0.00007
|
|
NM_000069.3(CACNA1S):c.3143A>G (p.Tyr1048Cys)
|
rs745571736
|
0.00007
|
|
NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val)
|
rs142286187
|
0.00007
|
|
NM_000069.3(CACNA1S):c.3741G>A (p.Leu1247=)
|
rs764626621
|
0.00007
|
|
NM_000069.3(CACNA1S):c.4001A>G (p.Tyr1334Cys)
|
rs146158332
|
0.00007
|
|
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=)
|
rs149036408
|
0.00007
|
|
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)
|
rs372436488
|
0.00007
|
|
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)
|
rs202120583
|
0.00007
|
|
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met)
|
rs370661912
|
0.00007
|
|
NM_000069.3(CACNA1S):c.948C>T (p.Thr316=)
|
rs149079621
|
0.00007
|
|
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser)
|
rs771671892
|
0.00007
|
|
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser)
|
rs769622439
|
0.00007
|
|
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)
|
rs756125442
|
0.00007
|
|
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)
|
rs200816828
|
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_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00007
|
|
NM_000249.4(MLH1):c.1558+5G>A
|
rs199935667
|
0.00007
|
|
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)
|
rs4986984
|
0.00007
|
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
|
NM_000251.3(MSH2):c.1087G>T (p.Val363Leu)
|
rs377345366
|
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_000256.3(MYBPC3):c.1370C>T (p.Thr457Met)
|
rs370538243
|
0.00007
|
|
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg)
|
rs199728019
|
0.00007
|
|
NM_000321.3(RB1):c.1967G>A (p.Arg656Gln)
|
rs202031219
|
0.00007
|
|
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)
|
rs199473625
|
0.00007
|
|
NM_000368.5(TSC1):c.1051A>G (p.Met351Val)
|
rs781312535
|
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_000455.5(STK11):c.863-16G>A
|
rs373096204
|
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.1973G>A (p.Arg658His)
|
rs377227840
|
0.00007
|
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00007
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
rs146200173
|
0.00007
|
|
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)
|
rs200142970
|
0.00007
|
|
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
|
rs5931
|
0.00007
|
|
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)
|
rs759109699
|
0.00007
|
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00007
|
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00007
|
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
|
NM_000540.3(RYR1):c.10032C>T (p.Pro3344=)
|
rs376687300
|
0.00007
|
|
NM_000540.3(RYR1):c.10260-12C>T
|
rs779541890
|
0.00007
|
|
NM_000540.3(RYR1):c.11260-13C>T
|
rs540088883
|
0.00007
|
|
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=)
|
rs376851030
|
0.00007
|
|
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys)
|
rs187569997
|
0.00007
|
|
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)
|
rs536148030
|
0.00007
|
|
NM_000540.3(RYR1):c.1475G>A (p.Arg492His)
|
rs901087791
|
0.00007
|
|
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser)
|
rs551509462
|
0.00007
|
|
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)
|
rs754476250
|
0.00007
|
|
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=)
|
rs143418190
|
0.00007
|
|
NM_000540.3(RYR1):c.6138A>G (p.Leu2046=)
|
rs551228795
|
0.00007
|
|
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys)
|
rs199870223
|
0.00007
|
|
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)
|
rs767805554
|
0.00007
|
|
NM_000546.6(TP53):c.248C>T (p.Ala83Val)
|
rs201717599
|
0.00007
|
|
NM_000546.6(TP53):c.903A>G (p.Pro301=)
|
rs72661120
|
0.00007
|
|
NM_000548.5(TSC2):c.1656A>G (p.Ala552=)
|
rs373515515
|
0.00007
|
|
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=)
|
rs137854152
|
0.00007
|
|
NM_000551.4(VHL):c.25G>A (p.Asp9Asn)
|
rs587780730
|
0.00007
|
|
NM_001035.3(RYR2):c.4101A>G (p.Lys1367=)
|
rs376792533
|
0.00007
|
|
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=)
|
rs201412035
|
0.00007
|
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00007
|
|
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp)
|
rs373766973
|
0.00007
|
|
NM_001370259.2(MEN1):c.685C>T (p.Arg229Cys)
|
rs754378887
|
0.00007
|
|
NM_002474.3(MYH11):c.1056G>A (p.Ser352=)
|
rs201256839
|
0.00007
|
|
NM_002474.3(MYH11):c.1434C>T (p.Tyr478=)
|
rs763773359
|
0.00007
|
|
NM_002474.3(MYH11):c.3611C>T (p.Ala1204Val)
|
rs772621139
|
0.00007
|
|
NM_002474.3(MYH11):c.4117-6T>G
|
rs370252949
|
0.00007
|
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
|
NM_002878.4(RAD51D):c.973G>A (p.Gly325Ser)
|
rs587780106
|
0.00007
|
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
|
NM_003242.6(TGFBR2):c.1013C>T (p.Thr338Met)
|
rs752866783
|
0.00007
|
|
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val)
|
rs145101532
|
0.00007
|
|
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)
|
rs200951235
|
0.00007
|
|
NM_004360.5(CDH1):c.1289T>G (p.Val430Gly)
|
rs730881665
|
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_004415.4(DSP):c.5555G>A (p.Arg1852His)
|
rs193922669
|
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.539G>A (p.Arg180His)
|
rs137853009
|
0.00007
|
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
|
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)
|
rs28897690
|
0.00007
|
|
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)
|
rs80357465
|
0.00007
|
|
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)
|
rs80357001
|
0.00007
|
|
NM_016203.4(PRKAG2):c.*2C>T
|
rs199559205
|
0.00007
|
|
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu)
|
rs150187184
|
0.00007
|
|
NM_024426.6(WT1):c.696C>T (p.Ser232=)
|
rs9332974
|
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_032043.3(BRIP1):c.2873T>A (p.Leu958Gln)
|
rs145859791
|
0.00007
|
|
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)
|
rs201523760
|
0.00007
|
|
NM_058216.3(RAD51C):c.769C>G (p.Leu257Val)
|
rs750551012
|
0.00007
|
|
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
|
rs564427867
|
0.00007
|
|
NM_000038.6(APC):c.1005A>G (p.Leu335=)
|
rs3797704
|
0.00006
|
|
NM_000038.6(APC):c.2110G>A (p.Val704Ile)
|
rs367804502
|
0.00006
|
|
NM_000038.6(APC):c.4249A>C (p.Ile1417Leu)
|
rs200166878
|
0.00006
|
|
NM_000038.6(APC):c.4478C>T (p.Thr1493Met)
|
rs374892194
|
0.00006
|
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
|
NM_000038.6(APC):c.5216A>G (p.Lys1739Arg)
|
rs769558291
|
0.00006
|
|
NM_000038.6(APC):c.5774C>A (p.Pro1925His)
|
rs762682111
|
0.00006
|
|
NM_000038.6(APC):c.7472T>C (p.Met2491Thr)
|
rs369075403
|
0.00006
|
|
NM_000038.6(APC):c.7574G>A (p.Arg2525His)
|
rs762034315
|
0.00006
|
|
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu)
|
rs730881270
|
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.198A>G (p.Lys66=)
|
rs540920248
|
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.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
0.00006
|
|
NM_000053.4(ATP7B):c.1036C>T (p.Pro346Ser)
|
rs201200863
|
0.00006
|
|
NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser)
|
rs186300062
|
0.00006
|
|
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=)
|
rs529527733
|
0.00006
|
|
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=)
|
rs550565277
|
0.00006
|
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
0.00006
|
|
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=)
|
rs377586515
|
0.00006
|
|
NM_000053.4(ATP7B):c.325C>T (p.Leu109=)
|
rs751920801
|
0.00006
|
|
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn)
|
rs769655497
|
0.00006
|
|
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
|
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)
|
rs546721020
|
0.00006
|
|
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp)
|
rs373762572
|
0.00006
|
|
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp)
|
rs755476114
|
0.00006
|
|
NM_000053.4(ATP7B):c.664A>G (p.Ile222Val)
|
rs200866801
|
0.00006
|
|
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=)
|
rs55919657
|
0.00006
|
|
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)
|
rs55968715
|
0.00006
|
|
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)
|
rs28897718
|
0.00006
|
|
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)
|
rs80358550
|
0.00006
|
|
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile)
|
rs80358716
|
0.00006
|
|
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)
|
rs80358862
|
0.00006
|
|
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg)
|
rs371067421
|
0.00006
|
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
|
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His)
|
rs56070345
|
0.00006
|
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
|
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys)
|
rs80359218
|
0.00006
|
|
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)
|
rs146696298
|
0.00006
|
|
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr)
|
rs144590408
|
0.00006
|
|
NM_000069.3(CACNA1S):c.208G>A (p.Val70Met)
|
rs771706267
|
0.00006
|
|
NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln)
|
rs553619980
|
0.00006
|
|
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val)
|
rs200646947
|
0.00006
|
|
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys)
|
rs375318710
|
0.00006
|
|
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys)
|
rs80338782
|
0.00006
|
|
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser)
|
rs145039828
|
0.00006
|
|
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln)
|
rs530655602
|
0.00006
|
|
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys)
|
rs201257304
|
0.00006
|
|
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys)
|
rs533353353
|
0.00006
|
|
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile)
|
rs756066219
|
0.00006
|
|
NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys)
|
rs141556780
|
0.00006
|
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
|
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser)
|
rs757192342
|
0.00006
|
|
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)
|
rs200394946
|
0.00006
|
|
NM_000090.4(COL3A1):c.1585G>A (p.Val529Ile)
|
rs140257722
|
0.00006
|
|
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu)
|
rs139610730
|
0.00006
|
|
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)
|
rs139619440
|
0.00006
|
|
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=)
|
rs148918486
|
0.00006
|
|
NM_000090.4(COL3A1):c.898-5T>C
|
rs535434618
|
0.00006
|
|
NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg)
|
rs374537884
|
0.00006
|
|
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)
|
rs377722423
|
0.00006
|
|
NM_000138.5(FBN1):c.2901C>T (p.Cys967=)
|
rs755610084
|
0.00006
|
|
NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys)
|
rs564713154
|
0.00006
|
|
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)
|
rs193922233
|
0.00006
|
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
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.197C>T (p.Pro66Leu)
|
rs730881812
|
0.00006
|
|
NM_000179.3(MSH6):c.2724A>G (p.Glu908=)
|
rs35389622
|
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.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
|
NM_000249.4(MLH1):c.552A>T (p.Ser184=)
|
rs35225190
|
0.00006
|
|
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)
|
rs587779086
|
0.00006
|
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
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.818T>C (p.Val273Ala)
|
rs144288433
|
0.00006
|
|
NM_000251.3(MSH2):c.944G>T (p.Gly315Val)
|
rs202026056
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
|
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn)
|
rs730880906
|
0.00006
|
|
NM_000268.4(NF2):c.1392G>A (p.Ala464=)
|
rs375819833
|
0.00006
|
|
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln)
|
rs748094394
|
0.00006
|
|
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)
|
rs45475899
|
0.00006
|
|
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile)
|
rs201452238
|
0.00006
|
|
NM_000368.5(TSC1):c.1209G>A (p.Ser403=)
|
rs141184479
|
0.00006
|
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
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_000432.4(MYL2):c.275-7G>A
|
rs373241541
|
0.00006
|
|
NM_000455.5(STK11):c.1069G>A (p.Glu357Lys)
|
rs759473833
|
0.00006
|
|
NM_000455.5(STK11):c.1257C>T (p.Ser419=)
|
rs375328708
|
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_000465.4(BARD1):c.1084T>G (p.Cys362Gly)
|
rs141351035
|
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.665C>T (p.Ala222Val)
|
rs142086060
|
0.00006
|
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
|
NM_000527.5(LDLR):c.108C>T (p.Asp36=)
|
rs373144619
|
0.00006
|
|
NM_000527.5(LDLR):c.1359-31G>A
|
rs369781605
|
0.00006
|
|
NM_000527.5(LDLR):c.1359-3C>T
|
rs775657243
|
0.00006
|
|
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
|
rs148181903
|
0.00006
|
|
NM_000527.5(LDLR):c.1846-10G>T
|
rs368243304
|
0.00006
|
|
NM_000527.5(LDLR):c.1988-5C>G
|
rs375877599
|
0.00006
|
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
|
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn)
|
rs138190838
|
0.00006
|
|
NM_000527.5(LDLR):c.233G>A (p.Arg78His)
|
rs146675823
|
0.00006
|
|
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser)
|
rs13306510
|
0.00006
|
|
NM_000527.5(LDLR):c.681C>T (p.Asp227=)
|
rs121908028
|
0.00006
|
|
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)
|
rs373869746
|
0.00006
|
|
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)
|
rs747507019
|
0.00006
|
|
NM_000531.6(OTC):c.541-11G>A
|
rs374923521
|
0.00006
|
|
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg)
|
rs141084758
|
0.00006
|
|
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)
|
rs368516768
|
0.00006
|
|
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly)
|
rs143235330
|
0.00006
|
|
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met)
|
rs372341850
|
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.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
|
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met)
|
rs150977342
|
0.00006
|
|
NM_000540.3(RYR1):c.10825-11C>A
|
rs201114660
|
0.00006
|
|
NM_000540.3(RYR1):c.11597A>G (p.Asn3866Ser)
|
rs767107632
|
0.00006
|
|
NM_000540.3(RYR1):c.14868+6T>A
|
rs759934562
|
0.00006
|
|
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn)
|
rs193922749
|
0.00006
|
|
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile)
|
rs369281291
|
0.00006
|
|
NM_000540.3(RYR1):c.2603G>A (p.Arg868His)
|
rs750938678
|
0.00006
|
|
NM_000540.3(RYR1):c.2844C>T (p.Asn948=)
|
rs761045773
|
0.00006
|
|
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)
|
rs150993059
|
0.00006
|
|
NM_000540.3(RYR1):c.2996G>A (p.Arg999His)
|
rs180714609
|
0.00006
|
|
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)
|
rs777049924
|
0.00006
|
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
|
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile)
|
rs193922795
|
0.00006
|
|
NM_000540.3(RYR1):c.7229C>T (p.Pro2410Leu)
|
rs145787667
|
0.00006
|
|
NM_000540.3(RYR1):c.8598C>T (p.Thr2866=)
|
rs538250432
|
0.00006
|
|
NM_000540.3(RYR1):c.9472C>T (p.Leu3158=)
|
rs770942162
|
0.00006
|
|
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=)
|
rs557648435
|
0.00006
|
|
NM_000551.4(VHL):c.89G>A (p.Gly30Glu)
|
rs1064793290
|
0.00006
|
|
NM_001018005.2(TPM1):c.27G>A (p.Gln9=)
|
rs397516365
|
0.00006
|
|
NM_001035.3(RYR2):c.10725+4A>T
|
rs116444428
|
0.00006
|
|
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu)
|
rs143353451
|
0.00006
|
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
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_001943.5(DSG2):c.2470C>T (p.Arg824Cys)
|
rs201845396
|
0.00006
|
|
NM_002474.3(MYH11):c.3235G>A (p.Ala1079Thr)
|
rs140479999
|
0.00006
|
|
NM_002474.3(MYH11):c.4096A>G (p.Ile1366Val)
|
rs147127121
|
0.00006
|
|
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)
|
rs770250516
|
0.00006
|
|
NM_004329.3(BMPR1A):c.118G>A (p.Asp40Asn)
|
rs587781556
|
0.00006
|
|
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser)
|
rs750840234
|
0.00006
|
|
NM_004360.5(CDH1):c.1174G>A (p.Val392Ile)
|
rs141864044
|
0.00006
|
|
NM_004360.5(CDH1):c.1241C>A (p.Thr414Asn)
|
rs755571454
|
0.00006
|
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00006
|
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
|
NM_004360.5(CDH1):c.393C>T (p.Ser131=)
|
rs145430811
|
0.00006
|
|
NM_004360.5(CDH1):c.48+15_48+16del
|
rs730881655
|
0.00006
|
|
NM_004656.4(BAP1):c.1781G>C (p.Gly594Ala)
|
rs144172190
|
0.00006
|
|
NM_007194.4(CHEK2):c.1260-10C>G
|
rs730881706
|
0.00006
|
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
|
NM_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.1243G>A (p.Val415Ile)
|
rs587782770
|
0.00006
|
|
NM_007294.4(BRCA1):c.135-3T>C
|
rs759417413
|
0.00006
|
|
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly)
|
rs111539978
|
0.00006
|
|
NM_007294.4(BRCA1):c.1802A>G (p.His601Arg)
|
rs371631805
|
0.00006
|
|
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)
|
rs80357102
|
0.00006
|
|
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)
|
rs55746541
|
0.00006
|
|
NM_007294.4(BRCA1):c.301+7G>A
|
rs80358113
|
0.00006
|
|
NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu)
|
rs397507213
|
0.00006
|
|
NM_007294.4(BRCA1):c.3346G>C (p.Val1116Leu)
|
rs55909400
|
0.00006
|
|
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)
|
rs55930959
|
0.00006
|
|
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys)
|
rs80356923
|
0.00006
|
|
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met)
|
rs80357345
|
0.00006
|
|
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)
|
rs28897691
|
0.00006
|
|
NM_007294.4(BRCA1):c.878C>G (p.Thr293Ser)
|
rs747172803
|
0.00006
|
|
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly)
|
rs55874646
|
0.00006
|
|
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)
|
rs182750960
|
0.00006
|
|
NM_020975.6(RET):c.1150C>G (p.Pro384Ala)
|
rs536298339
|
0.00006
|
|
NM_020975.6(RET):c.175G>A (p.Ala59Thr)
|
rs376565365
|
0.00006
|
|
NM_020975.6(RET):c.2116G>A (p.Val706Met)
|
rs137855422
|
0.00006
|
|
NM_020975.6(RET):c.2607+3G>A
|
rs752538741
|
0.00006
|
|
NM_024675.4(PALB2):c.-10C>T
|
rs1038099508
|
0.00006
|
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
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.3103C>T (p.Arg1035Cys)
|
rs45437094
|
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_000038.6(APC):c.1553C>T (p.Thr518Met)
|
rs371453363
|
0.00005
|
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00005
|
|
NM_000038.6(APC):c.2418T>A (p.His806Gln)
|
rs372917037
|
0.00005
|
|
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)
|
rs201522866
|
0.00005
|
|
NM_000038.6(APC):c.385G>C (p.Glu129Gln)
|
rs376628500
|
0.00005
|
|
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)
|
rs749142480
|
0.00005
|
|
NM_000038.6(APC):c.4424C>T (p.Ala1475Val)
|
rs375380414
|
0.00005
|
|
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu)
|
rs587781546
|
0.00005
|
|
NM_000038.6(APC):c.6173G>A (p.Gly2058Asp)
|
rs150140908
|
0.00005
|
|
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)
|
rs139893395
|
0.00005
|
|
NM_000051.4(ATM):c.3614G>A (p.Arg1205His)
|
rs769106895
|
0.00005
|
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00005
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
0.00005
|
|
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser)
|
rs587779853
|
0.00005
|
|
NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg)
|
rs730881382
|
0.00005
|
|
NM_000051.4(ATM):c.659C>T (p.Ala220Val)
|
rs145355104
|
0.00005
|
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00005
|
|
NM_000053.4(ATP7B):c.1050G>A (p.Pro350=)
|
rs372191499
|
0.00005
|
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
|
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)
|
rs137853285
|
0.00005
|
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
|
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)
|
rs368902724
|
0.00005
|
|
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)
|
rs121907996
|
0.00005
|
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00005
|
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00005
|
|
NM_000059.4(BRCA2):c.1694C>T (p.Ala565Val)
|
rs55821741
|
0.00005
|
|
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=)
|
rs80359785
|
0.00005
|
|
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg)
|
rs28897720
|
0.00005
|
|
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)
|
rs80358705
|
0.00005
|
|
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser)
|
rs80358776
|
0.00005
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
0.00005
|
|
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)
|
rs576279166
|
0.00005
|
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
|
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=)
|
rs146430937
|
0.00005
|
|
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)
|
rs80359105
|
0.00005
|
|
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser)
|
rs398122714
|
0.00005
|
|
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)
|
rs28897758
|
0.00005
|
|
NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr)
|
rs56204128
|
0.00005
|
|
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg)
|
rs80359229
|
0.00005
|
|
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=)
|
rs80359811
|
0.00005
|
|
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln)
|
rs763360081
|
0.00005
|
|
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val)
|
rs369139165
|
0.00005
|
|
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)
|
rs35521793
|
0.00005
|
|
NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala)
|
rs149195094
|
0.00005
|
|
NM_000069.3(CACNA1S):c.1936G>A (p.Val646Ile)
|
rs139860737
|
0.00005
|
|
NM_000069.3(CACNA1S):c.1944C>T (p.Gly648=)
|
rs145733062
|
0.00005
|
|
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=)
|
rs376863448
|
0.00005
|
|
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser)
|
rs139935847
|
0.00005
|
|
NM_000069.3(CACNA1S):c.2980G>A (p.Asp994Asn)
|
rs369941827
|
0.00005
|
|
NM_000069.3(CACNA1S):c.398+3G>A
|
rs764710968
|
0.00005
|
|
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)
|
rs371849585
|
0.00005
|
|
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=)
|
rs765581827
|
0.00005
|
|
NM_000069.3(CACNA1S):c.790G>A (p.Gly264Ser)
|
rs779029870
|
0.00005
|
|
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu)
|
rs201314211
|
0.00005
|
|
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr)
|
rs550665335
|
0.00005
|
|
NM_000138.5(FBN1):c.1992A>T (p.Gly664=)
|
rs183929553
|
0.00005
|
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00005
|
|
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met)
|
rs774851476
|
0.00005
|
|
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=)
|
rs794727601
|
0.00005
|
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
|
NM_000138.5(FBN1):c.7820-4G>A
|
rs750036723
|
0.00005
|
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00005
|
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
|
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)
|
rs193922242
|
0.00005
|
|
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)
|
rs193922245
|
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.2173A>G (p.Ile725Val)
|
rs148898662
|
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_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.80G>A (p.Arg27Gln)
|
rs138705565
|
0.00005
|
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00005
|
|
NM_000251.3(MSH2):c.1473G>T (p.Lys491Asn)
|
rs1064795039
|
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.2694A>C (p.Glu898Asp)
|
rs890670494
|
0.00005
|
|
NM_000251.3(MSH2):c.646A>G (p.Ile216Val)
|
rs63749936
|
0.00005
|
|
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)
|
rs201334592
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)
|
rs727503195
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3190+4C>T
|
rs571457875
|
0.00005
|
|
NM_000268.4(NF2):c.1341-7C>T
|
rs574718828
|
0.00005
|
|
NM_000268.4(NF2):c.947T>G (p.Leu316Trp)
|
rs750633919
|
0.00005
|
|
NM_000321.3(RB1):c.2003G>A (p.Arg668His)
|
rs551747882
|
0.00005
|
|
NM_000321.3(RB1):c.462G>A (p.Lys154=)
|
rs369830657
|
0.00005
|
|
NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys)
|
rs199473193
|
0.00005
|
|
NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn)
|
rs199473195
|
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.2654G>A (p.Arg885Gln)
|
rs200514807
|
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_000455.5(STK11):c.1027G>A (p.Asp343Asn)
|
rs368547224
|
0.00005
|
|
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp)
|
rs587780715
|
0.00005
|
|
NM_000455.5(STK11):c.666C>T (p.Pro222=)
|
rs542189325
|
0.00005
|
|
NM_000455.5(STK11):c.920+6C>T
|
rs730881964
|
0.00005
|
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
|
NM_000465.4(BARD1):c.1268A>G (p.Lys423Arg)
|
rs749383704
|
0.00005
|
|
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)
|
rs587780017
|
0.00005
|
|
NM_000465.4(BARD1):c.690C>G (p.Asp230Glu)
|
rs587780034
|
0.00005
|
|
NM_000465.4(BARD1):c.709C>G (p.Gln237Glu)
|
rs587780035
|
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_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00005
|
|
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
|
rs370471092
|
0.00005
|
|
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu)
|
rs749322464
|
0.00005
|
|
NM_000527.5(LDLR):c.1431C>T (p.Asp477=)
|
rs368610522
|
0.00005
|
|
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
|
rs879255079
|
0.00005
|
|
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu)
|
rs369943481
|
0.00005
|
|
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp)
|
rs756864388
|
0.00005
|
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00005
|
|
NM_000527.5(LDLR):c.2389+7G>A
|
rs369551855
|
0.00005
|
|
NM_000527.5(LDLR):c.2427A>G (p.Leu809=)
|
rs147191787
|
0.00005
|
|
NM_000527.5(LDLR):c.2575G>A (p.Val859Met)
|
rs202049029
|
0.00005
|
|
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val)
|
rs13306505
|
0.00005
|
|
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn)
|
rs139089530
|
0.00005
|
|
NM_000527.5(LDLR):c.660C>T (p.Pro220=)
|
rs143002616
|
0.00005
|
|
NM_000527.5(LDLR):c.710G>A (p.Arg237His)
|
rs148171426
|
0.00005
|
|
NM_000527.5(LDLR):c.73G>A (p.Asp25Asn)
|
rs562712652
|
0.00005
|
|
NM_000527.5(LDLR):c.861C>T (p.Gly287=)
|
rs770191650
|
0.00005
|
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00005
|
|
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg)
|
rs72658858
|
0.00005
|
|
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
|
NM_000531.6(OTC):c.621C>T (p.Ser207=)
|
rs72558415
|
0.00005
|
|
NM_000535.7(PMS2):c.-4A>G
|
rs544503598
|
0.00005
|
|
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val)
|
rs587780039
|
0.00005
|
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00005
|
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
|
NM_000540.3(RYR1):c.10347C>T (p.His3449=)
|
rs373702420
|
0.00005
|
|
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=)
|
rs376830015
|
0.00005
|
|
NM_000540.3(RYR1):c.13926C>T (p.Pro4642=)
|
rs559685703
|
0.00005
|
|
NM_000540.3(RYR1):c.13998+3G>A
|
rs765404523
|
0.00005
|
|
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=)
|
rs201157293
|
0.00005
|
|
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)
|
rs746538672
|
0.00005
|
|
NM_000540.3(RYR1):c.1909A>G (p.Ile637Val)
|
rs567084532
|
0.00005
|
|
NM_000540.3(RYR1):c.1956G>A (p.Ala652=)
|
rs202105428
|
0.00005
|
|
NM_000540.3(RYR1):c.2835G>A (p.Ala945=)
|
rs576990255
|
0.00005
|
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
|
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)
|
rs201174268
|
0.00005
|
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
|
NM_000540.3(RYR1):c.4346C>T (p.Ala1449Val)
|
rs775455157
|
0.00005
|
|
NM_000540.3(RYR1):c.6418C>T (p.Arg2140Trp)
|
rs750275456
|
0.00005
|
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00005
|
|
NM_000540.3(RYR1):c.767G>A (p.Arg256His)
|
rs772767943
|
0.00005
|
|
NM_000540.3(RYR1):c.7800T>C (p.Arg2600=)
|
rs762682222
|
0.00005
|
|
NM_000540.3(RYR1):c.7839C>T (p.Tyr2613=)
|
rs758413758
|
0.00005
|
|
NM_000540.3(RYR1):c.8179G>A (p.Ala2727Thr)
|
rs545688934
|
0.00005
|
|
NM_000540.3(RYR1):c.9348G>A (p.Ser3116=)
|
rs763655831
|
0.00005
|
|
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=)
|
rs369206584
|
0.00005
|
|
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=)
|
rs199828145
|
0.00005
|
|
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)
|
rs201276068
|
0.00005
|
|
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala)
|
rs17881470
|
0.00005
|
|
NM_000548.5(TSC2):c.1293G>A (p.Ala431=)
|
rs45517162
|
0.00005
|
|
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=)
|
rs146734084
|
0.00005
|
|
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=)
|
rs142085017
|
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_001048174.2(MUTYH):c.229G>A (p.Asp77Asn)
|
rs587780746
|
0.00005
|
|
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)
|
rs369677603
|
0.00005
|
|
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=)
|
rs767327888
|
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.1640A>G (p.Glu547Gly)
|
rs914488914
|
0.00005
|
|
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu)
|
rs199706698
|
0.00005
|
|
NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys)
|
rs773500082
|
0.00005
|
|
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu)
|
rs771128441
|
0.00005
|
|
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val)
|
rs370240337
|
0.00005
|
|
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val)
|
rs369950711
|
0.00005
|
|
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)
|
rs768140376
|
0.00005
|
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00005
|
|
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met)
|
rs150116445
|
0.00005
|
|
NM_003242.6(TGFBR2):c.91T>G (p.Ser31Ala)
|
rs761400349
|
0.00005
|
|
NM_003242.6(TGFBR2):c.95-7T>C
|
rs764533083
|
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.1865A>G (p.Asn622Ser)
|
rs147925149
|
0.00005
|
|
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys)
|
rs372182377
|
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.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00005
|
|
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
|
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)
|
rs377119288
|
0.00005
|
|
NM_005902.4(SMAD3):c.401-7C>T
|
rs774268232
|
0.00005
|
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
|
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His)
|
rs56272539
|
0.00005
|
|
NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp)
|
rs530464947
|
0.00005
|
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
|
NM_020975.6(RET):c.1187C>T (p.Ser396Leu)
|
rs781646869
|
0.00005
|
|
NM_020975.6(RET):c.2427C>T (p.Tyr809=)
|
rs577929869
|
0.00005
|
|
NM_024334.3(TMEM43):c.214G>A (p.Val72Met)
|
rs368603914
|
0.00005
|
|
NM_024426.6(WT1):c.1020C>T (p.His340=)
|
rs375114529
|
0.00005
|
|
NM_024426.6(WT1):c.785G>A (p.Gly262Asp)
|
rs372225738
|
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.2773G>C (p.Val925Leu)
|
rs180177125
|
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.2863A>C (p.Asn955His)
|
rs587782244
|
0.00005
|
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00005
|
|
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)
|
rs587781666
|
0.00005
|
|
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)
|
rs587780255
|
0.00005
|
|
NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala)
|
rs755522807
|
0.00005
|
|
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys)
|
rs185392267
|
0.00005
|
|
NM_000038.6(APC):c.2534G>A (p.Arg845His)
|
rs776878597
|
0.00004
|
|
NM_000038.6(APC):c.2820G>A (p.Ser940=)
|
rs780366551
|
0.00004
|
|
NM_000038.6(APC):c.317G>A (p.Arg106His)
|
rs201764637
|
0.00004
|
|
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser)
|
rs730881244
|
0.00004
|
|
NM_000038.6(APC):c.3368A>C (p.Gln1123Pro)
|
rs587779789
|
0.00004
|
|
NM_000038.6(APC):c.3436C>T (p.Arg1146Cys)
|
rs202168805
|
0.00004
|
|
NM_000038.6(APC):c.3628C>T (p.His1210Tyr)
|
rs145181563
|
0.00004
|
|
NM_000038.6(APC):c.4055T>C (p.Val1352Ala)
|
rs528724202
|
0.00004
|
|
NM_000038.6(APC):c.4073C>T (p.Ala1358Val)
|
rs730881249
|
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.5083A>G (p.Arg1695Gly)
|
rs555019540
|
0.00004
|
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
|
NM_000038.6(APC):c.5756A>G (p.Asn1919Ser)
|
rs147740612
|
0.00004
|
|
NM_000038.6(APC):c.5839A>G (p.Thr1947Ala)
|
rs746346292
|
0.00004
|
|
NM_000038.6(APC):c.5894A>C (p.His1965Pro)
|
rs773776516
|
0.00004
|
|
NM_000038.6(APC):c.6020A>G (p.Tyr2007Cys)
|
rs752604668
|
0.00004
|
|
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)
|
rs372418435
|
0.00004
|
|
NM_000038.6(APC):c.6387G>A (p.Ser2129=)
|
rs374310157
|
0.00004
|
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
|
NM_000038.6(APC):c.6682A>G (p.Arg2228Gly)
|
rs199648202
|
0.00004
|
|
NM_000038.6(APC):c.6694C>G (p.His2232Asp)
|
rs730881256
|
0.00004
|
|
NM_000038.6(APC):c.669A>C (p.Gln223His)
|
rs769482880
|
0.00004
|
|
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln)
|
rs531178000
|
0.00004
|
|
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro)
|
rs375586273
|
0.00004
|
|
NM_000038.6(APC):c.776G>A (p.Arg259Gln)
|
rs767457050
|
0.00004
|
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
|
NM_000038.6(APC):c.7832C>A (p.Thr2611Lys)
|
rs587778037
|
0.00004
|
|
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)
|
rs369721828
|
0.00004
|
|
NM_000038.6(APC):c.8402G>A (p.Arg2801Gln)
|
rs754363694
|
0.00004
|
|
NM_000038.6(APC):c.883A>G (p.Ser295Gly)
|
rs587780611
|
0.00004
|
|
NM_000038.6(APC):c.995G>A (p.Arg332Gln)
|
rs377665107
|
0.00004
|
|
NM_000051.4(ATM):c.1685A>G (p.Asn562Ser)
|
rs368209025
|
0.00004
|
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00004
|
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
0.00004
|
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
|
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)
|
rs587779841
|
0.00004
|
|
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met)
|
rs587781712
|
0.00004
|
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
|
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)
|
rs730881325
|
0.00004
|
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
|
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)
|
rs201254466
|
0.00004
|
|
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)
|
rs778775834
|
0.00004
|
|
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu)
|
rs750724856
|
0.00004
|
|
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=)
|
rs770787421
|
0.00004
|
|
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=)
|
rs1052485948
|
0.00004
|
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
|
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)
|
rs200597654
|
0.00004
|
|
NM_000053.4(ATP7B):c.3956G>A (p.Arg1319Gln)
|
rs529307157
|
0.00004
|
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
|
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)
|
rs767721448
|
0.00004
|
|
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro)
|
rs756237962
|
0.00004
|
|
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg)
|
rs55833327
|
0.00004
|
|
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter)
|
rs80358402
|
0.00004
|
|
NM_000059.4(BRCA2):c.1070A>C (p.Glu357Ala)
|
rs587781399
|
0.00004
|
|
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser)
|
rs80358425
|
0.00004
|
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
|
NM_000059.4(BRCA2):c.2848G>A (p.Val950Ile)
|
rs775903570
|
0.00004
|
|
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)
|
rs375125172
|
0.00004
|
|
NM_000059.4(BRCA2):c.3900_3902del (p.Met1300_Thr1301delinsIle)
|
rs397507697
|
0.00004
|
|
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr)
|
rs80358657
|
0.00004
|
|
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val)
|
rs56386506
|
0.00004
|
|
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys)
|
rs397507793
|
0.00004
|
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
|
NM_000059.4(BRCA2):c.5927G>T (p.Gly1976Val)
|
rs587782751
|
0.00004
|
|
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile)
|
rs397507365
|
0.00004
|
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
|
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)
|
rs397507382
|
0.00004
|
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
rs80359055
|
0.00004
|
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
rs55763607
|
0.00004
|
|
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)
|
rs80359129
|
0.00004
|
|
NM_000059.4(BRCA2):c.8755-19A>G
|
rs398122713
|
0.00004
|
|
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)
|
rs80359237
|
0.00004
|
|
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)
|
rs532351874
|
0.00004
|
|
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
|
rs773440873
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)
|
rs141031133
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn)
|
rs752513328
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2258C>T (p.Pro753Leu)
|
rs190705834
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys)
|
rs373328930
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2457A>G (p.Glu819=)
|
rs770817376
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met)
|
rs202131129
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2635T>C (p.Ser879Pro)
|
rs573597311
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=)
|
rs188071541
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile)
|
rs76460090
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2962C>T (p.Arg988Cys)
|
rs143722841
|
0.00004
|
|
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met)
|
rs777328046
|
0.00004
|
|
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)
|
rs775009783
|
0.00004
|
|
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His)
|
rs201463541
|
0.00004
|
|
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)
|
rs368421264
|
0.00004
|
|
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys)
|
rs138768414
|
0.00004
|
|
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)
|
rs200848930
|
0.00004
|
|
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)
|
rs576536458
|
0.00004
|
|
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr)
|
rs527702358
|
0.00004
|
|
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile)
|
rs767571919
|
0.00004
|
|
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)
|
rs186538122
|
0.00004
|
|
NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln)
|
rs758594181
|
0.00004
|
|
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile)
|
rs138205421
|
0.00004
|
|
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)
|
rs148317787
|
0.00004
|
|
NM_000077.5(CDKN2A):c.*13G>C
|
rs374668781
|
0.00004
|
|
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His)
|
rs568986390
|
0.00004
|
|
NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln)
|
rs367754862
|
0.00004
|
|
NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=)
|
rs749357239
|
0.00004
|
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
|
NM_000138.5(FBN1):c.4176G>A (p.Lys1392=)
|
rs141633998
|
0.00004
|
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00004
|
|
NM_000169.3(GLA):c.1000-14T>C
|
rs397515868
|
0.00004
|
|
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala)
|
rs375661583
|
0.00004
|
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00004
|
|
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)
|
rs28935197
|
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.1974G>A (p.Val658=)
|
rs372916347
|
0.00004
|
|
NM_000179.3(MSH6):c.242C>T (p.Ala81Val)
|
rs587779924
|
0.00004
|
|
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
|
rs186240214
|
0.00004
|
|
NM_000179.3(MSH6):c.3557-17del
|
rs778393939
|
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_000249.4(MLH1):c.1148T>C (p.Met383Thr)
|
rs141344760
|
0.00004
|
|
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)
|
rs377433038
|
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.1813G>T (p.Val605Phe)
|
rs730881777
|
0.00004
|
|
NM_000251.3(MSH2):c.183G>T (p.Gln61His)
|
rs751082926
|
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.2794G>A (p.Val932Ile)
|
rs1172428337
|
0.00004
|
|
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)
|
rs587779973
|
0.00004
|
|
NM_000251.3(MSH2):c.860G>C (p.Gly287Ala)
|
rs587782567
|
0.00004
|
|
NM_000251.3(MSH2):c.891C>G (p.Ser297Arg)
|
rs551236465
|
0.00004
|
|
NM_000251.3(MSH2):c.958A>G (p.Thr320Ala)
|
rs368982417
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
|
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg)
|
rs373730381
|
0.00004
|
|
NM_000257.4(MYH7):c.3993C>T (p.His1331=)
|
rs200288088
|
0.00004
|
|
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)
|
rs397516211
|
0.00004
|
|
NM_000268.4(NF2):c.1055C>T (p.Thr352Met)
|
rs764441073
|
0.00004
|
|
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys)
|
rs765540111
|
0.00004
|
|
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)
|
rs774824164
|
0.00004
|
|
NM_000321.3(RB1):c.1619G>T (p.Gly540Val)
|
rs769696726
|
0.00004
|
|
NM_000321.3(RB1):c.731T>C (p.Ile244Thr)
|
rs147754935
|
0.00004
|
|
NM_000368.5(TSC1):c.110G>A (p.Arg37His)
|
rs750441497
|
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.1976C>T (p.Ala659Val)
|
rs118203609
|
0.00004
|
|
NM_000368.5(TSC1):c.2115G>A (p.Glu705=)
|
rs142662480
|
0.00004
|
|
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)
|
rs769389702
|
0.00004
|
|
NM_000455.5(STK11):c.1041G>A (p.Ala347=)
|
rs537906142
|
0.00004
|
|
NM_000455.5(STK11):c.1109-3C>T
|
rs864622219
|
0.00004
|
|
NM_000455.5(STK11):c.1286C>G (p.Ala429Gly)
|
rs757369900
|
0.00004
|
|
NM_000455.5(STK11):c.298C>G (p.Gln100Glu)
|
rs757841535
|
0.00004
|
|
NM_000455.5(STK11):c.598-14C>T
|
rs769378511
|
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_000465.4(BARD1):c.160A>G (p.Thr54Ala)
|
rs200254470
|
0.00004
|
|
NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser)
|
rs587781443
|
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.581G>A (p.Arg194Lys)
|
rs181748854
|
0.00004
|
|
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)
|
rs146223579
|
0.00004
|
|
NM_000527.5(LDLR):c.1078G>C (p.Asp360His)
|
rs777926251
|
0.00004
|
|
NM_000527.5(LDLR):c.1279A>C (p.Arg427=)
|
rs371355878
|
0.00004
|
|
NM_000527.5(LDLR):c.1359-5C>G
|
rs531005522
|
0.00004
|
|
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile)
|
rs5932
|
0.00004
|
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
rs28941776
|
0.00004
|
|
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)
|
rs201971888
|
0.00004
|
|
NM_000527.5(LDLR):c.190T>C (p.Leu64=)
|
rs761629258
|
0.00004
|
|
NM_000527.5(LDLR):c.1988-13T>G
|
rs200201131
|
0.00004
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
rs28942084
|
0.00004
|
|
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)
|
rs150104358
|
0.00004
|
|
NM_000527.5(LDLR):c.291C>T (p.Asn97=)
|
rs372845091
|
0.00004
|
|
NM_000527.5(LDLR):c.434T>C (p.Val145Ala)
|
rs776872913
|
0.00004
|
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
|
NM_000531.6(OTC):c.299-7dup
|
rs374145788
|
0.00004
|
|
NM_000531.6(OTC):c.498G>T (p.Leu166Phe)
|
rs759911602
|
0.00004
|
|
NM_000531.6(OTC):c.85C>G (p.Gln29Glu)
|
rs752916728
|
0.00004
|
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
|
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)
|
rs536111818
|
0.00004
|
|
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala)
|
rs587781382
|
0.00004
|
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
|
NM_000535.7(PMS2):c.166C>G (p.Leu56Val)
|
rs371011390
|
0.00004
|
|
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu)
|
rs199700509
|
0.00004
|
|
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln)
|
rs587780044
|
0.00004
|
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
|
NM_000540.3(RYR1):c.10170C>T (p.Gly3390=)
|
rs369239179
|
0.00004
|
|
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=)
|
rs770132934
|
0.00004
|
|
NM_000540.3(RYR1):c.10485G>C (p.Lys3495Asn)
|
rs753726014
|
0.00004
|
|
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=)
|
rs371952058
|
0.00004
|
|
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys)
|
rs145087576
|
0.00004
|
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
|
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys)
|
rs752192756
|
0.00004
|
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
|
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=)
|
rs763954439
|
0.00004
|
|
NM_000540.3(RYR1):c.14700C>T (p.Asp4900=)
|
rs759063883
|
0.00004
|
|
NM_000540.3(RYR1):c.2199G>C (p.Gly733=)
|
rs749285937
|
0.00004
|
|
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu)
|
rs759317223
|
0.00004
|
|
NM_000540.3(RYR1):c.5638G>A (p.Glu1880Lys)
|
rs777733662
|
0.00004
|
|
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
0.00004
|
|
NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln)
|
rs144526634
|
0.00004
|
|
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=)
|
rs375997435
|
0.00004
|
|
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=)
|
rs781110591
|
0.00004
|
|
NM_000540.3(RYR1):c.8112C>T (p.Cys2704=)
|
rs763722972
|
0.00004
|
|
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn)
|
rs566495420
|
0.00004
|
|
NM_000540.3(RYR1):c.9234-11T>G
|
rs750322384
|
0.00004
|
|
NM_000540.3(RYR1):c.9477C>T (p.Asp3159=)
|
rs139409128
|
0.00004
|
|
NM_000546.6(TP53):c.141G>A (p.Pro47=)
|
rs201741778
|
0.00004
|
|
NM_000546.6(TP53):c.554G>A (p.Ser185Asn)
|
rs150607408
|
0.00004
|
|
NM_000546.6(TP53):c.677G>T (p.Gly226Val)
|
rs970212462
|
0.00004
|
|
NM_000546.6(TP53):c.868C>T (p.Arg290Cys)
|
rs770374782
|
0.00004
|
|
NM_000546.6(TP53):c.993+313G>A
|
rs372821099
|
0.00004
|
|
NM_000546.6(TP53):c.998G>A (p.Arg333His)
|
rs573154688
|
0.00004
|
|
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser)
|
rs45457694
|
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.2009C>T (p.Pro670Leu)
|
rs397515288
|
0.00004
|
|
NM_000548.5(TSC2):c.2049C>T (p.Ser683=)
|
rs569518378
|
0.00004
|
|
NM_000548.5(TSC2):c.2539C>T (p.Leu847=)
|
rs377300009
|
0.00004
|
|
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp)
|
rs372321790
|
0.00004
|
|
NM_000548.5(TSC2):c.4867A>T (p.Thr1623Ser)
|
rs749501410
|
0.00004
|
|
NM_000548.5(TSC2):c.5010C>T (p.His1670=)
|
rs376306544
|
0.00004
|
|
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile)
|
rs778395191
|
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_001018005.2(TPM1):c.851+7G>A
|
rs765721221
|
0.00004
|
|
NM_001035.3(RYR2):c.463+6C>T
|
rs397516533
|
0.00004
|
|
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)
|
rs369323506
|
0.00004
|
|
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala)
|
rs375597447
|
0.00004
|
|
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)
|
rs587778542
|
0.00004
|
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
|
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile)
|
rs759295912
|
0.00004
|
|
NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr)
|
rs587778534
|
0.00004
|
|
NM_001276345.2(TNNT2):c.403G>A (p.Asp135Asn)
|
rs765359025
|
0.00004
|
|
NM_001276345.2(TNNT2):c.720-5T>G
|
rs730881092
|
0.00004
|
|
NM_001276345.2(TNNT2):c.720-7C>T
|
rs376303087
|
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_001370259.2(MEN1):c.941G>A (p.Arg314Gln)
|
rs771645621
|
0.00004
|
|
NM_001943.5(DSG2):c.1920C>T (p.Gly640=)
|
rs775642244
|
0.00004
|
|
NM_002474.3(MYH11):c.2592C>T (p.Thr864=)
|
rs771714041
|
0.00004
|
|
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr)
|
rs571504063
|
0.00004
|
|
NM_002474.3(MYH11):c.6G>A (p.Ala2=)
|
rs762011909
|
0.00004
|
|
NM_002878.4(RAD51D):c.509T>C (p.Val170Ala)
|
rs370679685
|
0.00004
|
|
NM_002878.4(RAD51D):c.797G>A (p.Arg266His)
|
rs779808083
|
0.00004
|
|
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)
|
rs570278423
|
0.00004
|
|
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)
|
rs146277116
|
0.00004
|
|
NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser)
|
rs751587466
|
0.00004
|
|
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys)
|
rs587781332
|
0.00004
|
|
NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu)
|
rs368595543
|
0.00004
|
|
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val)
|
rs376651641
|
0.00004
|
|
NM_004329.3(BMPR1A):c.383A>G (p.Asn128Ser)
|
rs375165807
|
0.00004
|
|
NM_004360.5(CDH1):c.1161C>T (p.Asn387=)
|
rs111266450
|
0.00004
|
|
NM_004360.5(CDH1):c.1244T>C (p.Ile415Thr)
|
rs587782372
|
0.00004
|
|
NM_004360.5(CDH1):c.1501G>A (p.Val501Met)
|
rs368690400
|
0.00004
|
|
NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln)
|
rs780759537
|
0.00004
|
|
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr)
|
rs201637081
|
0.00004
|
|
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln)
|
rs530717933
|
0.00004
|
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
|
NM_004360.5(CDH1):c.2637C>T (p.Gly879=)
|
rs141001592
|
0.00004
|
|
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys)
|
rs34507583
|
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.712A>C (p.Asn238His)
|
rs730881664
|
0.00004
|
|
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=)
|
rs758280185
|
0.00004
|
|
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser)
|
rs201050937
|
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.1837A>G (p.Thr613Ala)
|
rs749728488
|
0.00004
|
|
NM_004656.4(BAP1):c.206C>T (p.Thr69Met)
|
rs572063023
|
0.00004
|
|
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu)
|
rs777664260
|
0.00004
|
|
NM_007194.4(CHEK2):c.*2dup
|
rs749257861
|
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.1470C>A (p.Asp490Glu)
|
rs587780178
|
0.00004
|
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
|
NM_007194.4(CHEK2):c.908+19A>T
|
rs759973493
|
0.00004
|
|
NM_007294.4(BRCA1):c.1016A>C (p.Lys339Thr)
|
rs587781737
|
0.00004
|
|
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met)
|
rs80357374
|
0.00004
|
|
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr)
|
rs80357328
|
0.00004
|
|
NM_007294.4(BRCA1):c.2518A>G (p.Ser840Gly)
|
rs377475866
|
0.00004
|
|
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val)
|
rs80356874
|
0.00004
|
|
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys)
|
rs80356955
|
0.00004
|
|
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)
|
rs80356899
|
0.00004
|
|
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)
|
rs397509100
|
0.00004
|
|
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys)
|
rs80357407
|
0.00004
|
|
NM_007294.4(BRCA1):c.425C>A (p.Pro142His)
|
rs55971303
|
0.00004
|
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
|
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His)
|
rs80357022
|
0.00004
|
|
NM_007294.4(BRCA1):c.4669G>C (p.Asp1557His)
|
rs80356906
|
0.00004
|
|
NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala)
|
rs145466894
|
0.00004
|
|
NM_007294.4(BRCA1):c.5333-483T>G
|
rs967027857
|
0.00004
|
|
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser)
|
rs80357088
|
0.00004
|
|
NM_007294.4(BRCA1):c.81-11del
|
rs273902788
|
0.00004
|
|
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His)
|
rs535627239
|
0.00004
|
|
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly)
|
rs200911550
|
0.00004
|
|
NM_020975.6(RET):c.1094C>T (p.Ser365Leu)
|
rs763670106
|
0.00004
|
|
NM_020975.6(RET):c.1420C>T (p.Arg474Trp)
|
rs775842917
|
0.00004
|
|
NM_020975.6(RET):c.1891G>A (p.Asp631Asn)
|
rs377767406
|
0.00004
|
|
NM_020975.6(RET):c.693C>T (p.Arg231=)
|
rs576806329
|
0.00004
|
|
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter)
|
rs778127887
|
0.00004
|
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
0.00004
|
|
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)
|
rs147241955
|
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.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.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.829G>A (p.Asp277Asn)
|
rs778309339
|
0.00004
|
|
NM_032043.3(BRIP1):c.-5G>A
|
rs754270436
|
0.00004
|
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
|
NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)
|
rs777741543
|
0.00004
|
|
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His)
|
rs367816363
|
0.00004
|
|
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala)
|
rs372799558
|
0.00004
|
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
|
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)
|
rs138743097
|
0.00004
|
|
NM_058216.3(RAD51C):c.34C>T (p.Arg12Trp)
|
rs28910276
|
0.00004
|
|
NM_058216.3(RAD51C):c.406A>T (p.Met136Leu)
|
rs587780254
|
0.00004
|
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
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_058216.3(RAD51C):c.956G>A (p.Arg319Gln)
|
rs367846829
|
0.00004
|
|
NM_170707.4(LMNA):c.1931G>A (p.Arg644His)
|
rs368386019
|
0.00004
|
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
|
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala)
|
rs772677312
|
0.00004
|
|
NM_174936.4(PCSK9):c.1863+6G>A
|
rs568853401
|
0.00004
|
|
NC_000011.10:g.47333340G>A
|
rs373012629
|
0.00003
|
|
NC_000011.10:g.47346380G>A
|
rs201078659
|
0.00003
|
|
NM_000038.6(APC):c.1114A>G (p.Asn372Asp)
|
rs201478136
|
0.00003
|
|
NM_000038.6(APC):c.1241G>A (p.Arg414His)
|
rs730881233
|
0.00003
|
|
NM_000038.6(APC):c.1685C>T (p.Thr562Met)
|
rs587783034
|
0.00003
|
|
NM_000038.6(APC):c.1904G>C (p.Gly635Ala)
|
rs730881239
|
0.00003
|
|
NM_000038.6(APC):c.2090C>T (p.Ala697Val)
|
rs761733547
|
0.00003
|
|
NM_000038.6(APC):c.2627G>A (p.Arg876Gln)
|
rs373428732
|
0.00003
|
|
NM_000038.6(APC):c.2738A>G (p.His913Arg)
|
rs762572576
|
0.00003
|
|
NM_000038.6(APC):c.280C>A (p.Arg94Ser)
|
rs550945533
|
0.00003
|
|
NM_000038.6(APC):c.2870A>G (p.Lys957Arg)
|
rs777881096
|
0.00003
|
|
NM_000038.6(APC):c.2966A>G (p.Asp989Gly)
|
rs770976457
|
0.00003
|
|
NM_000038.6(APC):c.3205A>G (p.Arg1069Gly)
|
rs375408871
|
0.00003
|
|
NM_000038.6(APC):c.3299C>T (p.Ser1100Phe)
|
rs863224541
|
0.00003
|
|
NM_000038.6(APC):c.3529A>G (p.Ile1177Val)
|
rs369834416
|
0.00003
|
|
NM_000038.6(APC):c.379A>G (p.Ser127Gly)
|
rs200089324
|
0.00003
|
|
NM_000038.6(APC):c.4901C>T (p.Pro1634Leu)
|
rs370433763
|
0.00003
|
|
NM_000038.6(APC):c.5179T>C (p.Cys1727Arg)
|
rs758815860
|
0.00003
|
|
NM_000038.6(APC):c.5257G>C (p.Ala1753Pro)
|
rs587781350
|
0.00003
|
|
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg)
|
rs766739164
|
0.00003
|
|
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)
|
rs587779799
|
0.00003
|
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
|
NM_000038.6(APC):c.6019T>C (p.Tyr2007His)
|
rs745811356
|
0.00003
|
|
NM_000038.6(APC):c.6099C>G (p.Asp2033Glu)
|
rs370532497
|
0.00003
|
|
NM_000038.6(APC):c.6131G>A (p.Ser2044Asn)
|
rs375743017
|
0.00003
|
|
NM_000038.6(APC):c.6236A>C (p.Asp2079Ala)
|
rs779413228
|
0.00003
|
|
NM_000038.6(APC):c.647G>A (p.Arg216Gln)
|
rs76685252
|
0.00003
|
|
NM_000038.6(APC):c.689G>A (p.Arg230His)
|
rs587780545
|
0.00003
|
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
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.7262C>T (p.Ser2421Leu)
|
rs536557651
|
0.00003
|
|
NM_000038.6(APC):c.7264A>G (p.Thr2422Ala)
|
rs730881260
|
0.00003
|
|
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)
|
rs200399245
|
0.00003
|
|
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe)
|
rs72541815
|
0.00003
|
|
NM_000038.6(APC):c.7731A>G (p.Ser2577=)
|
rs537187449
|
0.00003
|
|
NM_000038.6(APC):c.791A>G (p.Gln264Arg)
|
rs369345931
|
0.00003
|
|
NM_000038.6(APC):c.8071A>G (p.Asn2691Asp)
|
rs1060503281
|
0.00003
|
|
NM_000038.6(APC):c.8273A>G (p.Glu2758Gly)
|
rs371616945
|
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.854A>G (p.Asp285Gly)
|
rs201093383
|
0.00003
|
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00003
|
|
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)
|
rs587781841
|
0.00003
|
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
|
NM_000051.4(ATM):c.1661C>T (p.Thr554Met)
|
rs1060501694
|
0.00003
|
|
NM_000051.4(ATM):c.1898+3A>G
|
rs200169643
|
0.00003
|
|
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)
|
rs141175037
|
0.00003
|
|
NM_000051.4(ATM):c.2005T>C (p.Cys669Arg)
|
rs587782141
|
0.00003
|
|
NM_000051.4(ATM):c.2159G>A (p.Arg720His)
|
rs55830714
|
0.00003
|
|
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe)
|
rs730881345
|
0.00003
|
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
|
NM_000051.4(ATM):c.2354G>A (p.Arg785His)
|
rs587782128
|
0.00003
|
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
|
NM_000051.4(ATM):c.2449G>C (p.Asp817His)
|
rs587778067
|
0.00003
|
|
NM_000051.4(ATM):c.2498G>C (p.Gly833Ala)
|
rs552010421
|
0.00003
|
|
NM_000051.4(ATM):c.2519A>T (p.Asp840Val)
|
rs786202605
|
0.00003
|
|
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr)
|
rs778123895
|
0.00003
|
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
|
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)
|
rs730881353
|
0.00003
|
|
NM_000051.4(ATM):c.2751C>T (p.Ser917=)
|
rs876659611
|
0.00003
|
|
NM_000051.4(ATM):c.2838+9C>G
|
rs370160823
|
0.00003
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
0.00003
|
|
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)
|
rs370282831
|
0.00003
|
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
0.00003
|
|
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)
|
rs149182949
|
0.00003
|
|
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)
|
rs730881369
|
0.00003
|
|
NM_000051.4(ATM):c.4444T>C (p.Cys1482Arg)
|
rs752559455
|
0.00003
|
|
NM_000051.4(ATM):c.4445G>A (p.Cys1482Tyr)
|
rs201277352
|
0.00003
|
|
NM_000051.4(ATM):c.4702C>T (p.His1568Tyr)
|
rs753269143
|
0.00003
|
|
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr)
|
rs786201215
|
0.00003
|
|
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly)
|
rs786202089
|
0.00003
|
|
NM_000051.4(ATM):c.6219C>T (p.Leu2073=)
|
rs752478345
|
0.00003
|
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
|
NM_000051.4(ATM):c.6703A>G (p.Met2235Val)
|
rs768791795
|
0.00003
|
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00003
|
|
NM_000051.4(ATM):c.9006C>T (p.Phe3002=)
|
rs540172506
|
0.00003
|
|
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=)
|
rs551051945
|
0.00003
|
|
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=)
|
rs138962570
|
0.00003
|
|
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)
|
rs751202110
|
0.00003
|
|
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)
|
rs570594838
|
0.00003
|
|
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)
|
rs750019452
|
0.00003
|
|
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)
|
rs201497300
|
0.00003
|
|
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)
|
rs371840514
|
0.00003
|
|
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)
|
rs746485916
|
0.00003
|
|
NM_000053.4(ATP7B):c.3189G>A (p.Ala1063=)
|
rs370527611
|
0.00003
|
|
NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val)
|
rs770428835
|
0.00003
|
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
|
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)
|
rs758355520
|
0.00003
|
|
NM_000053.4(ATP7B):c.3888C>T (p.Asp1296=)
|
rs772616533
|
0.00003
|
|
NM_000053.4(ATP7B):c.52-15T>A
|
rs201243102
|
0.00003
|
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00003
|
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00003
|
|
NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)
|
rs587782137
|
0.00003
|
|
NM_000059.4(BRCA2):c.1219C>G (p.Gln407Glu)
|
rs781079248
|
0.00003
|
|
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile)
|
rs80358448
|
0.00003
|
|
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro)
|
rs80358457
|
0.00003
|
|
NM_000059.4(BRCA2):c.1793C>T (p.Thr598Ile)
|
rs80358462
|
0.00003
|
|
NM_000059.4(BRCA2):c.1803A>C (p.Lys601Asn)
|
rs768106492
|
0.00003
|
|
NM_000059.4(BRCA2):c.235A>G (p.Ile79Val)
|
rs80358502
|
0.00003
|
|
NM_000059.4(BRCA2):c.2561A>G (p.Asn854Ser)
|
rs80358520
|
0.00003
|
|
NM_000059.4(BRCA2):c.2593G>C (p.Glu865Gln)
|
rs587782014
|
0.00003
|
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00003
|
|
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)
|
rs80358548
|
0.00003
|
|
NM_000059.4(BRCA2):c.3329A>T (p.Glu1110Val)
|
rs587782072
|
0.00003
|
|
NM_000059.4(BRCA2):c.341A>G (p.His114Arg)
|
rs80358586
|
0.00003
|
|
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys)
|
rs183920365
|
0.00003
|
|
NM_000059.4(BRCA2):c.3595G>A (p.Asp1199Asn)
|
rs1060502404
|
0.00003
|
|
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)
|
rs28897722
|
0.00003
|
|
NM_000059.4(BRCA2):c.3863A>G (p.Asn1288Ser)
|
rs80358630
|
0.00003
|
|
NM_000059.4(BRCA2):c.3904A>T (p.Thr1302Ser)
|
rs543339423
|
0.00003
|
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
rs28897723
|
0.00003
|
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
|
NM_000059.4(BRCA2):c.4483G>A (p.Val1495Ile)
|
rs80358680
|
0.00003
|
|
NM_000059.4(BRCA2):c.5002G>A (p.Ala1668Thr)
|
rs587782182
|
0.00003
|
|
NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys)
|
rs80358741
|
0.00003
|
|
NM_000059.4(BRCA2):c.5167A>T (p.Thr1723Ser)
|
rs80358742
|
0.00003
|
|
NM_000059.4(BRCA2):c.521G>A (p.Arg174His)
|
rs80358747
|
0.00003
|
|
NM_000059.4(BRCA2):c.5239A>G (p.Asn1747Asp)
|
rs431825328
|
0.00003
|
|
NM_000059.4(BRCA2):c.53G>A (p.Arg18His)
|
rs80358762
|
0.00003
|
|
NM_000059.4(BRCA2):c.5566C>T (p.His1856Tyr)
|
rs755791142
|
0.00003
|
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
|
NM_000059.4(BRCA2):c.5726A>G (p.Asp1909Gly)
|
rs80358798
|
0.00003
|
|
NM_000059.4(BRCA2):c.6172T>A (p.Phe2058Ile)
|
rs80358857
|
0.00003
|
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
|
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe)
|
rs80358867
|
0.00003
|
|
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)
|
rs80358896
|
0.00003
|
|
NM_000059.4(BRCA2):c.750G>A (p.Val250=)
|
rs143214959
|
0.00003
|
|
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg)
|
rs55647716
|
0.00003
|
|
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly)
|
rs80359041
|
0.00003
|
|
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)
|
rs756105620
|
0.00003
|
|
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn)
|
rs80359056
|
0.00003
|
|
NM_000059.4(BRCA2):c.8755-9T>C
|
rs397507413
|
0.00003
|
|
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys)
|
rs45469092
|
0.00003
|
|
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val)
|
rs80359162
|
0.00003
|
|
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg)
|
rs80359167
|
0.00003
|
|
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn)
|
rs80359177
|
0.00003
|
|
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro)
|
rs397507423
|
0.00003
|
|
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)
|
rs80359194
|
0.00003
|
|
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)
|
rs80359228
|
0.00003
|
|
NM_000069.3(CACNA1S):c.140T>A (p.Ile47Asn)
|
rs372497364
|
0.00003
|
|
NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr)
|
rs763794604
|
0.00003
|
|
NM_000069.3(CACNA1S):c.1845C>T (p.Asp615=)
|
rs200091030
|
0.00003
|
|
NM_000069.3(CACNA1S):c.1948+1G>A
|
rs745712829
|
0.00003
|
|
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn)
|
rs200844059
|
0.00003
|
|
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=)
|
rs143816534
|
0.00003
|
|
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His)
|
rs760674518
|
0.00003
|
|
NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met)
|
rs373701906
|
0.00003
|
|
NM_000069.3(CACNA1S):c.284T>C (p.Ile95Thr)
|
rs550479246
|
0.00003
|
|
NM_000069.3(CACNA1S):c.2956C>T (p.Arg986Cys)
|
rs770099347
|
0.00003
|
|
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu)
|
rs149658326
|
0.00003
|
|
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His)
|
rs774884290
|
0.00003
|
|
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu)
|
rs749856222
|
0.00003
|
|
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met)
|
rs753195502
|
0.00003
|
|
NM_000069.3(CACNA1S):c.4250T>A (p.Ile1417Asn)
|
rs372383822
|
0.00003
|
|
NM_000069.3(CACNA1S):c.430G>A (p.Val144Ile)
|
rs1295305811
|
0.00003
|
|
NM_000069.3(CACNA1S):c.4404T>A (p.Phe1468Leu)
|
rs373506089
|
0.00003
|
|
NM_000069.3(CACNA1S):c.4436C>T (p.Thr1479Met)
|
rs780785403
|
0.00003
|
|
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu)
|
rs970352258
|
0.00003
|
|
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val)
|
rs369332959
|
0.00003
|
|
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala)
|
rs141521945
|
0.00003
|
|
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe)
|
rs747238231
|
0.00003
|
|
NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu)
|
rs374763528
|
0.00003
|
|
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val)
|
rs190152688
|
0.00003
|
|
NM_000069.3(CACNA1S):c.785G>A (p.Arg262Gln)
|
rs776311349
|
0.00003
|
|
NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp)
|
rs577022740
|
0.00003
|
|
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly)
|
rs372670098
|
0.00003
|
|
NM_000090.4(COL3A1):c.1472G>A (p.Arg491Gln)
|
rs774551212
|
0.00003
|
|
NM_000090.4(COL3A1):c.1509+2T>C
|
rs1553508039
|
0.00003
|
|
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=)
|
rs373963384
|
0.00003
|
|
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu)
|
rs886038849
|
0.00003
|
|
NM_000138.5(FBN1):c.1837+4C>T
|
rs199950267
|
0.00003
|
|
NM_000138.5(FBN1):c.1961-3T>C
|
rs751388860
|
0.00003
|
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
|
NM_000138.5(FBN1):c.2142G>A (p.Gly714=)
|
rs1423523072
|
0.00003
|
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00003
|
|
NM_000138.5(FBN1):c.4337-5C>G
|
rs370959127
|
0.00003
|
|
NM_000138.5(FBN1):c.442+1G>A
|
rs868403743
|
0.00003
|
|
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile)
|
rs780957696
|
0.00003
|
|
NM_000138.5(FBN1):c.7129A>G (p.Ile2377Val)
|
rs955085872
|
0.00003
|
|
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg)
|
rs374630707
|
0.00003
|
|
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys)
|
rs750199580
|
0.00003
|
|
NM_000138.5(FBN1):c.885T>G (p.Ile295Met)
|
rs151056963
|
0.00003
|
|
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)
|
rs869312163
|
0.00003
|
|
NM_000169.3(GLA):c.57G>A (p.Leu19=)
|
rs1255932020
|
0.00003
|
|
NM_000169.3(GLA):c.639+6A>C
|
rs200096940
|
0.00003
|
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
|
NM_000179.3(MSH6):c.1049C>T (p.Ala350Val)
|
rs587782331
|
0.00003
|
|
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)
|
rs587779207
|
0.00003
|
|
NM_000179.3(MSH6):c.115G>A (p.Gly39Arg)
|
rs751838296
|
0.00003
|
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
|
NM_000179.3(MSH6):c.182C>T (p.Ala61Val)
|
rs572336612
|
0.00003
|
|
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser)
|
rs868760377
|
0.00003
|
|
NM_000179.3(MSH6):c.2156C>T (p.Thr719Ile)
|
rs373418713
|
0.00003
|
|
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)
|
rs587779926
|
0.00003
|
|
NM_000179.3(MSH6):c.2818G>T (p.Ala940Ser)
|
rs772978164
|
0.00003
|
|
NM_000179.3(MSH6):c.3173-10C>T
|
rs587780559
|
0.00003
|
|
NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu)
|
rs587779932
|
0.00003
|
|
NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=)
|
rs544518097
|
0.00003
|
|
NM_000179.3(MSH6):c.359T>C (p.Ile120Thr)
|
rs775971872
|
0.00003
|
|
NM_000179.3(MSH6):c.364G>A (p.Glu122Lys)
|
rs143036974
|
0.00003
|
|
NM_000179.3(MSH6):c.3772C>G (p.Gln1258Glu)
|
rs63750554
|
0.00003
|
|
NM_000179.3(MSH6):c.393A>C (p.Val131=)
|
rs752488540
|
0.00003
|
|
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)
|
rs730881813
|
0.00003
|
|
NM_000179.3(MSH6):c.796A>C (p.Lys266Gln)
|
rs1333079379
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)
|
rs199473482
|
0.00003
|
|
NM_000249.4(MLH1):c.1039-3C>T
|
rs730881737
|
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.1976G>A (p.Arg659Gln)
|
rs63749900
|
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.9C>G (p.Phe3Leu)
|
rs779759678
|
0.00003
|
|
NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu)
|
rs557339938
|
0.00003
|
|
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala)
|
rs730881756
|
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.157G>T (p.Ala53Ser)
|
rs755931648
|
0.00003
|
|
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly)
|
rs370330868
|
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.2138G>A (p.Gly713Glu)
|
rs753555602
|
0.00003
|
|
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)
|
rs533553381
|
0.00003
|
|
NM_000251.3(MSH2):c.2426A>G (p.Glu809Gly)
|
rs1374788237
|
0.00003
|
|
NM_000251.3(MSH2):c.2517T>A (p.His839Gln)
|
rs267608016
|
0.00003
|
|
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr)
|
rs747700106
|
0.00003
|
|
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp)
|
rs587781453
|
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.2635-11A>G
|
rs201291595
|
0.00003
|
|
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)
|
rs587779969
|
0.00003
|
|
NM_000251.3(MSH2):c.391T>G (p.Phe131Val)
|
rs755423698
|
0.00003
|
|
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)
|
rs587781795
|
0.00003
|
|
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)
|
rs767747378
|
0.00003
|
|
NM_000251.3(MSH2):c.763A>C (p.Ser255Arg)
|
rs761529282
|
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_000256.3(MYBPC3):c.148A>G (p.Ser50Gly)
|
rs373164247
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3154A>G (p.Met1052Val)
|
rs730880589
|
0.00003
|
|
NM_000257.4(MYH7):c.3134G>A (p.Arg1045His)
|
rs397516178
|
0.00003
|
|
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln)
|
rs730880808
|
0.00003
|
|
NM_000257.4(MYH7):c.503-5C>T
|
rs397516236
|
0.00003
|
|
NM_000258.3(MYL3):c.92G>A (p.Arg31His)
|
rs199639940
|
0.00003
|
|
NM_000268.4(NF2):c.1231C>T (p.Arg411Cys)
|
rs773296925
|
0.00003
|
|
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr)
|
rs900545157
|
0.00003
|
|
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn)
|
rs757586383
|
0.00003
|
|
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu)
|
rs764972504
|
0.00003
|
|
NM_000268.4(NF2):c.255T>C (p.Asp85=)
|
rs375802248
|
0.00003
|
|
NM_000268.4(NF2):c.683A>G (p.Lys228Arg)
|
rs145384260
|
0.00003
|
|
NM_000314.8(PTEN):c.492G>A (p.Lys164=)
|
rs146629065
|
0.00003
|
|
NM_000321.3(RB1):c.1215C>T (p.Asn405=)
|
rs758187955
|
0.00003
|
|
NM_000321.3(RB1):c.1764T>A (p.Ser588=)
|
rs542783532
|
0.00003
|
|
NM_000321.3(RB1):c.1814+3A>G
|
rs376886420
|
0.00003
|
|
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp)
|
rs367668687
|
0.00003
|
|
NM_000321.3(RB1):c.2344A>G (p.Ile782Val)
|
rs1283644725
|
0.00003
|
|
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser)
|
rs754507551
|
0.00003
|
|
NM_000321.3(RB1):c.2490-15A>C
|
rs772625432
|
0.00003
|
|
NM_000321.3(RB1):c.761G>A (p.Arg254Lys)
|
rs200674097
|
0.00003
|
|
NM_000363.5(TNNI3):c.-8G>A
|
rs773513015
|
0.00003
|
|
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln)
|
rs397514808
|
0.00003
|
|
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe)
|
rs1461609607
|
0.00003
|
|
NM_000368.5(TSC1):c.1317G>C (p.Leu439=)
|
rs770692313
|
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.1585G>A (p.Ala529Thr)
|
rs751125011
|
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.1922C>A (p.Pro641His)
|
rs397514863
|
0.00003
|
|
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys)
|
rs202241429
|
0.00003
|
|
NM_000368.5(TSC1):c.2478G>C (p.Leu826=)
|
rs149719514
|
0.00003
|
|
NM_000368.5(TSC1):c.2677A>C (p.Ser893Arg)
|
rs1396314595
|
0.00003
|
|
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser)
|
rs76801599
|
0.00003
|
|
NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg)
|
rs1433723046
|
0.00003
|
|
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys)
|
rs200398750
|
0.00003
|
|
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val)
|
rs202121327
|
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.379G>A (p.Val127Ile)
|
rs372215435
|
0.00003
|
|
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)
|
rs118203400
|
0.00003
|
|
NM_000368.5(TSC1):c.840A>G (p.Gln280=)
|
rs1171852730
|
0.00003
|
|
NM_000368.5(TSC1):c.850C>T (p.Arg284Cys)
|
rs140544652
|
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_000368.5(TSC1):c.941C>T (p.Thr314Met)
|
rs373454700
|
0.00003
|
|
NM_000455.5(STK11):c.*11C>T
|
rs553039153
|
0.00003
|
|
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)
|
rs369744528
|
0.00003
|
|
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile)
|
rs587778695
|
0.00003
|
|
NM_000455.5(STK11):c.1109-13G>A
|
rs568152768
|
0.00003
|
|
NM_000455.5(STK11):c.1109-5C>T
|
rs587782020
|
0.00003
|
|
NM_000455.5(STK11):c.1118C>T (p.Pro373Leu)
|
rs876661153
|
0.00003
|
|
NM_000455.5(STK11):c.1130C>T (p.Ala377Val)
|
rs199973552
|
0.00003
|
|
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln)
|
rs587782364
|
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.613G>A (p.Ala205Thr)
|
rs730881981
|
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_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.1148T>A (p.Met383Lys)
|
rs763596413
|
0.00003
|
|
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)
|
rs370771157
|
0.00003
|
|
NM_000465.4(BARD1):c.1724G>A (p.Ser575Asn)
|
rs774352844
|
0.00003
|
|
NM_000465.4(BARD1):c.1904-5G>A
|
rs376639978
|
0.00003
|
|
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)
|
rs587781948
|
0.00003
|
|
NM_000465.4(BARD1):c.2179G>A (p.Asp727Asn)
|
rs730881424
|
0.00003
|
|
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly)
|
rs16852741
|
0.00003
|
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
|
NM_000465.4(BARD1):c.59C>T (p.Pro20Leu)
|
rs753686197
|
0.00003
|
|
NM_000527.5(LDLR):c.-121T>C
|
rs777716188
|
0.00003
|
|
NM_000527.5(LDLR):c.-286C>G
|
rs989307060
|
0.00003
|
|
NM_000527.5(LDLR):c.1002C>T (p.Ile334=)
|
rs762853526
|
0.00003
|
|
NM_000527.5(LDLR):c.1060+9C>T
|
rs540073140
|
0.00003
|
|
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)
|
rs755449669
|
0.00003
|
|
NM_000527.5(LDLR):c.1221C>T (p.His407=)
|
rs778424518
|
0.00003
|
|
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)
|
rs773658037
|
0.00003
|
|
NM_000527.5(LDLR):c.1383C>T (p.Gly461=)
|
rs764929176
|
0.00003
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
rs144614838
|
0.00003
|
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
rs137929307
|
0.00003
|
|
NM_000527.5(LDLR):c.1835C>T (p.Ala612Val)
|
rs377449975
|
0.00003
|
|
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr)
|
rs141155833
|
0.00003
|
|
NM_000527.5(LDLR):c.186G>A (p.Thr62=)
|
rs55958434
|
0.00003
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
rs746118995
|
0.00003
|
|
NM_000527.5(LDLR):c.2301G>A (p.Met767Ile)
|
rs149237737
|
0.00003
|
|
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala)
|
rs780300776
|
0.00003
|
|
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00003
|
|
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)
|
rs764493597
|
0.00003
|
|
NM_000527.5(LDLR):c.2388C>T (p.Ile796=)
|
rs543852919
|
0.00003
|
|
NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu)
|
rs377437226
|
0.00003
|
|
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)
|
rs750474121
|
0.00003
|
|
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)
|
rs774723292
|
0.00003
|
|
NM_000527.5(LDLR):c.450C>T (p.Pro150=)
|
rs773365925
|
0.00003
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
rs121908026
|
0.00003
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
rs373822756
|
0.00003
|
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00003
|
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
|
NM_000531.6(OTC):c.863T>G (p.Met288Arg)
|
rs777210088
|
0.00003
|
|
NM_000535.7(PMS2):c.1096G>C (p.Asp366His)
|
rs141769057
|
0.00003
|
|
NM_000535.7(PMS2):c.1364C>G (p.Ser455Cys)
|
rs748698776
|
0.00003
|
|
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)
|
rs146848345
|
0.00003
|
|
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)
|
rs587782602
|
0.00003
|
|
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser)
|
rs758018736
|
0.00003
|
|
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)
|
rs587780045
|
0.00003
|
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
|
NM_000535.7(PMS2):c.2265C>T (p.Ile755=)
|
rs145646046
|
0.00003
|
|
NM_000535.7(PMS2):c.591C>T (p.Gly197=)
|
rs748518694
|
0.00003
|
|
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp)
|
rs876661233
|
0.00003
|
|
NM_000535.7(PMS2):c.751G>A (p.Val251Met)
|
rs142434011
|
0.00003
|
|
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)
|
rs182246929
|
0.00003
|
|
NM_000535.7(PMS2):c.916G>A (p.Val306Met)
|
rs587780063
|
0.00003
|
|
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)
|
rs114185660
|
0.00003
|
|
NM_000540.3(RYR1):c.10053G>A (p.Pro3351=)
|
rs774096421
|
0.00003
|
|
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu)
|
rs769196275
|
0.00003
|
|
NM_000540.3(RYR1):c.10578G>A (p.Ala3526=)
|
rs368360689
|
0.00003
|
|
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe)
|
rs752477271
|
0.00003
|
|
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp)
|
rs140037232
|
0.00003
|
|
NM_000540.3(RYR1):c.11731A>G (p.Thr3911Ala)
|
rs200622493
|
0.00003
|
|
NM_000540.3(RYR1):c.1211A>G (p.His404Arg)
|
rs561546643
|
0.00003
|
|
NM_000540.3(RYR1):c.1218C>T (p.Thr406=)
|
rs3745846
|
0.00003
|
|
NM_000540.3(RYR1):c.1227A>G (p.Leu409=)
|
rs745659458
|
0.00003
|
|
NM_000540.3(RYR1):c.1318G>A (p.Val440Ile)
|
rs763251588
|
0.00003
|
|
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly)
|
rs139647387
|
0.00003
|
|
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)
|
rs864309559
|
0.00003
|
|
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)
|
rs368874586
|
0.00003
|
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
|
NM_000540.3(RYR1):c.2937G>A (p.Ala979=)
|
rs775442275
|
0.00003
|
|
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met)
|
rs370851779
|
0.00003
|
|
NM_000540.3(RYR1):c.4454+6G>A
|
rs771877667
|
0.00003
|
|
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His)
|
rs371566475
|
0.00003
|
|
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp)
|
rs779733902
|
0.00003
|
|
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=)
|
rs201310026
|
0.00003
|
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
|
NM_000540.3(RYR1):c.6211C>T (p.Arg2071Trp)
|
rs147441124
|
0.00003
|
|
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg)
|
rs761224660
|
0.00003
|
|
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr)
|
rs146306934
|
0.00003
|
|
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln)
|
rs201584482
|
0.00003
|
|
NM_000540.3(RYR1):c.7755C>T (p.Thr2585=)
|
rs768702294
|
0.00003
|
|
NM_000540.3(RYR1):c.8820C>A (p.Gly2940=)
|
rs951057994
|
0.00003
|
|
NM_000540.3(RYR1):c.9001-8G>A
|
rs768611849
|
0.00003
|
|
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu)
|
rs193922761
|
0.00003
|
|
NM_000540.3(RYR1):c.9624G>T (p.Pro3208=)
|
rs552470353
|
0.00003
|
|
NM_000540.3(RYR1):c.9811G>A (p.Glu3271Lys)
|
rs773026490
|
0.00003
|
|
NM_000540.3(RYR1):c.9895G>A (p.Gly3299Ser)
|
rs372203483
|
0.00003
|
|
NM_000546.6(TP53):c.105G>C (p.Leu35Phe)
|
rs121912661
|
0.00003
|
|
NM_000546.6(TP53):c.1120G>C (p.Gly374Arg)
|
rs587781858
|
0.00003
|
|
NM_000546.6(TP53):c.188C>G (p.Ala63Gly)
|
rs372201428
|
0.00003
|
|
NM_000546.6(TP53):c.329G>A (p.Arg110His)
|
rs11540654
|
0.00003
|
|
NM_000546.6(TP53):c.382C>A (p.Pro128Thr)
|
rs1555526327
|
0.00003
|
|
NM_000548.5(TSC2):c.1095C>T (p.Ile365=)
|
rs757135168
|
0.00003
|
|
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu)
|
rs587778729
|
0.00003
|
|
NM_000548.5(TSC2):c.1775G>A (p.Ser592Asn)
|
rs374371998
|
0.00003
|
|
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro)
|
rs45517215
|
0.00003
|
|
NM_000548.5(TSC2):c.2437G>A (p.Val813Met)
|
rs375030314
|
0.00003
|
|
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala)
|
rs781713438
|
0.00003
|
|
NM_000548.5(TSC2):c.3210G>A (p.Thr1070=)
|
rs539927192
|
0.00003
|
|
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=)
|
rs769562717
|
0.00003
|
|
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe)
|
rs759004251
|
0.00003
|
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
|
NM_000551.4(VHL):c.549G>A (p.Ser183=)
|
rs193922614
|
0.00003
|
|
NM_001035.3(RYR2):c.8209-4T>C
|
rs371966353
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1007G>A (p.Arg336His)
|
rs587780741
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1045C>G (p.Leu349Val)
|
rs1216396008
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)
|
rs587778540
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1399C>T (p.Arg467Cys)
|
rs587781668
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln)
|
rs369410616
|
0.00003
|
|
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln)
|
rs587780081
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1516C>T (p.Arg506Trp)
|
rs144616312
|
0.00003
|
|
NM_001048174.2(MUTYH):c.184G>A (p.Val62Ile)
|
rs375526246
|
0.00003
|
|
NM_001048174.2(MUTYH):c.253T>A (p.Trp85Arg)
|
rs776719541
|
0.00003
|
|
NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln)
|
rs587782683
|
0.00003
|
|
NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser)
|
rs771641237
|
0.00003
|
|
NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys)
|
rs587780748
|
0.00003
|
|
NM_001048174.2(MUTYH):c.852G>A (p.Val284=)
|
rs751875215
|
0.00003
|
|
NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu)
|
rs587778538
|
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.1479G>A (p.Pro493=)
|
rs546721780
|
0.00003
|
|
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)
|
rs587780843
|
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.566A>G (p.Asn189Ser)
|
rs587780844
|
0.00003
|
|
NM_001370259.2(MEN1):c.759G>A (p.Ser253=)
|
rs201829546
|
0.00003
|
|
NM_001370259.2(MEN1):c.774G>C (p.Gln258His)
|
rs374659656
|
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_001613.4(ACTA2):c.401T>C (p.Met134Thr)
|
rs181698127
|
0.00003
|
|
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
|
rs200830807
|
0.00003
|
|
NM_002474.3(MYH11):c.1000G>T (p.Ala334Ser)
|
rs1425974785
|
0.00003
|
|
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn)
|
rs369751362
|
0.00003
|
|
NM_002474.3(MYH11):c.5092G>A (p.Ala1698Thr)
|
rs187172581
|
0.00003
|
|
NM_002474.3(MYH11):c.5375G>A (p.Arg1792Gln)
|
rs751495086
|
0.00003
|
|
NM_002474.3(MYH11):c.632C>T (p.Thr211Met)
|
rs557865832
|
0.00003
|
|
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)
|
rs199657566
|
0.00003
|
|
NM_002878.4(RAD51D):c.145-13G>T
|
rs760867838
|
0.00003
|
|
NM_002878.4(RAD51D):c.208G>A (p.Asp70Asn)
|
rs142189122
|
0.00003
|
|
NM_002878.4(RAD51D):c.481-8C>T
|
rs762247126
|
0.00003
|
|
NM_002878.4(RAD51D):c.5G>C (p.Gly2Ala)
|
rs763716638
|
0.00003
|
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00003
|
|
NM_002878.4(RAD51D):c.868C>T (p.Arg290Trp)
|
rs527964137
|
0.00003
|
|
NM_002878.4(RAD51D):c.878C>T (p.Ala293Val)
|
rs769732230
|
0.00003
|
|
NM_002878.4(RAD51D):c.915C>G (p.Phe305Leu)
|
rs1316114457
|
0.00003
|
|
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)
|
rs898854295
|
0.00003
|
|
NM_003002.4(SDHD):c.80G>A (p.Arg27Lys)
|
rs200671534
|
0.00003
|
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00003
|
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00003
|
|
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)
|
rs201560560
|
0.00003
|
|
NM_004329.3(BMPR1A):c.1420G>C (p.Val474Leu)
|
rs567733221
|
0.00003
|
|
NM_004329.3(BMPR1A):c.1513G>A (p.Ala505Thr)
|
rs369966011
|
0.00003
|
|
NM_004329.3(BMPR1A):c.437T>C (p.Phe146Ser)
|
rs587778112
|
0.00003
|
|
NM_004329.3(BMPR1A):c.510C>T (p.Phe170=)
|
rs747266339
|
0.00003
|
|
NM_004329.3(BMPR1A):c.569A>G (p.Asn190Ser)
|
rs574229174
|
0.00003
|
|
NM_004329.3(BMPR1A):c.583C>A (p.Gln195Lys)
|
rs771910503
|
0.00003
|
|
NM_004329.3(BMPR1A):c.68-12A>G
|
rs201120747
|
0.00003
|
|
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn)
|
rs369012159
|
0.00003
|
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00003
|
|
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg)
|
rs587778176
|
0.00003
|
|
NM_004360.5(CDH1):c.1360G>A (p.Val454Ile)
|
rs587780112
|
0.00003
|
|
NM_004360.5(CDH1):c.1684A>T (p.Thr562Ser)
|
rs587782061
|
0.00003
|
|
NM_004360.5(CDH1):c.1796C>T (p.Thr599Ile)
|
rs377302798
|
0.00003
|
|
NM_004360.5(CDH1):c.184G>A (p.Gly62Ser)
|
rs587781898
|
0.00003
|
|
NM_004360.5(CDH1):c.2017C>A (p.Gln673Lys)
|
rs587781701
|
0.00003
|
|
NM_004360.5(CDH1):c.2052C>T (p.Ser684=)
|
rs764379691
|
0.00003
|
|
NM_004360.5(CDH1):c.2074G>A (p.Ala692Thr)
|
rs376854556
|
0.00003
|
|
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)
|
rs769076258
|
0.00003
|
|
NM_004360.5(CDH1):c.61C>G (p.Leu21Val)
|
rs863224729
|
0.00003
|
|
NM_004360.5(CDH1):c.671G>A (p.Arg224His)
|
rs201511530
|
0.00003
|
|
NM_004360.5(CDH1):c.833-3C>T
|
rs587782839
|
0.00003
|
|
NM_004415.4(DSP):c.1743C>T (p.Ala581=)
|
rs139095230
|
0.00003
|
|
NM_004612.4(TGFBR1):c.452G>A (p.Arg151His)
|
rs539413187
|
0.00003
|
|
NM_004656.4(BAP1):c.1066C>T (p.Arg356Trp)
|
rs761029538
|
0.00003
|
|
NM_004656.4(BAP1):c.1073C>T (p.Pro358Leu)
|
rs773379358
|
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.1339G>A (p.Val447Ile)
|
rs762654322
|
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_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
|
NM_005359.6(SMAD4):c.956-3T>C
|
rs748283001
|
0.00003
|
|
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser)
|
rs140880290
|
0.00003
|
|
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val)
|
rs1317532064
|
0.00003
|
|
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)
|
rs587780171
|
0.00003
|
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00003
|
|
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro)
|
rs587781960
|
0.00003
|
|
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu)
|
rs587782541
|
0.00003
|
|
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)
|
rs149501505
|
0.00003
|
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
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.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
|
NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu)
|
rs41286290
|
0.00003
|
|
NM_007294.4(BRCA1):c.1460T>G (p.Val487Gly)
|
rs748812609
|
0.00003
|
|
NM_007294.4(BRCA1):c.179A>G (p.Gln60Arg)
|
rs373655067
|
0.00003
|
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
0.00003
|
|
NM_007294.4(BRCA1):c.2108C>T (p.Thr703Ile)
|
rs1302055573
|
0.00003
|
|
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr)
|
rs80357182
|
0.00003
|
|
NM_007294.4(BRCA1):c.2299A>G (p.Ser767Gly)
|
rs80357194
|
0.00003
|
|
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)
|
rs80357108
|
0.00003
|
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
|
NM_007294.4(BRCA1):c.3355A>T (p.Thr1119Ser)
|
rs80356949
|
0.00003
|
|
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser)
|
rs80356919
|
0.00003
|
|
NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro)
|
rs80357483
|
0.00003
|
|
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)
|
rs80357413
|
0.00003
|
|
NM_007294.4(BRCA1):c.4185+10G>C
|
rs80358104
|
0.00003
|
|
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)
|
rs80357079
|
0.00003
|
|
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00003
|
|
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)
|
rs191373374
|
0.00003
|
|
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)
|
rs80357442
|
0.00003
|
|
NM_007294.4(BRCA1):c.594-2A>C
|
rs80358033
|
0.00003
|
|
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe)
|
rs80357394
|
0.00003
|
|
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly)
|
rs55680408
|
0.00003
|
|
NM_007294.4(BRCA1):c.671-8A>G
|
rs80358144
|
0.00003
|
|
NM_007294.4(BRCA1):c.733G>T (p.Asp245Tyr)
|
rs147519994
|
0.00003
|
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00003
|
|
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly)
|
rs772684048
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1234-6G>A
|
rs780341115
|
0.00003
|
|
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu)
|
rs757900380
|
0.00003
|
|
NM_020975.6(RET):c.1018G>T (p.Val340Phe)
|
rs367737920
|
0.00003
|
|
NM_020975.6(RET):c.1095G>A (p.Ser365=)
|
rs201992974
|
0.00003
|
|
NM_020975.6(RET):c.1771G>A (p.Val591Ile)
|
rs776013456
|
0.00003
|
|
NM_020975.6(RET):c.178C>T (p.Pro60Ser)
|
rs748402485
|
0.00003
|
|
NM_020975.6(RET):c.1867G>A (p.Glu623Lys)
|
rs377767402
|
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_020975.6(RET):c.2332G>A (p.Val778Ile)
|
rs75686697
|
0.00003
|
|
NM_020975.6(RET):c.31C>A (p.Leu11Met)
|
rs587780812
|
0.00003
|
|
NM_020975.6(RET):c.539G>A (p.Arg180Gln)
|
rs370736139
|
0.00003
|
|
NM_024334.3(TMEM43):c.748G>A (p.Gly250Ser)
|
rs371797765
|
0.00003
|
|
NM_024422.6(DSC2):c.669A>G (p.Pro223=)
|
rs923697621
|
0.00003
|
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
|
NM_024426.6(WT1):c.1124G>A (p.Arg375His)
|
rs554416372
|
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.1766C>T (p.Thr589Met)
|
rs773340677
|
0.00003
|
|
NM_024675.4(PALB2):c.1958G>A (p.Cys653Tyr)
|
rs771246748
|
0.00003
|
|
NM_024675.4(PALB2):c.2057G>A (p.Arg686Lys)
|
rs267604470
|
0.00003
|
|
NM_024675.4(PALB2):c.2106A>G (p.Ile702Met)
|
rs730881886
|
0.00003
|
|
NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu)
|
rs764509489
|
0.00003
|
|
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)
|
rs587782579
|
0.00003
|
|
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)
|
rs995629797
|
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.3146T>C (p.Met1049Thr)
|
rs138273800
|
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.3464C>G (p.Ser1155Cys)
|
rs755609496
|
0.00003
|
|
NM_024675.4(PALB2):c.3473A>G (p.His1158Arg)
|
rs45505500
|
0.00003
|
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
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.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
|
NM_032043.3(BRIP1):c.2590G>A (p.Val864Ile)
|
rs149529390
|
0.00003
|
|
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)
|
rs778916092
|
0.00003
|
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00003
|
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
|
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)
|
rs188258913
|
0.00003
|
|
NM_032043.3(BRIP1):c.379+4_379+5del
|
rs773332695
|
0.00003
|
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00003
|
|
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)
|
rs376893571
|
0.00003
|
|
NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly)
|
rs587782565
|
0.00003
|
|
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)
|
rs587780253
|
0.00003
|
|
NM_058216.3(RAD51C):c.189T>G (p.Ile63Met)
|
rs730881923
|
0.00003
|
|
NM_058216.3(RAD51C):c.287C>G (p.Thr96Ser)
|
rs750381200
|
0.00003
|
|
NM_058216.3(RAD51C):c.451G>C (p.Val151Leu)
|
rs753912045
|
0.00003
|
|
NM_058216.3(RAD51C):c.571+5G>A
|
rs145779113
|
0.00003
|
|
NM_058216.3(RAD51C):c.706-13C>G
|
rs747406535
|
0.00003
|
|
NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)
|
rs199886026
|
0.00003
|
|
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met)
|
rs746026526
|
0.00003
|
|
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg)
|
rs376403182
|
0.00003
|
|
NM_058216.3(RAD51C):c.883G>A (p.Ala295Thr)
|
rs746571208
|
0.00003
|
|
NM_174936.4(PCSK9):c.1432G>A (p.Ala478Thr)
|
rs375582388
|
0.00003
|
|
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)
|
rs374603772
|
0.00003
|
|
NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn)
|
rs793888521
|
0.00003
|
|
NC_000011.10:g.47343017C>T
|
rs777487971
|
0.00002
|
|
NM_000038.6(APC):c.1589T>C (p.Val530Ala)
|
rs202199891
|
0.00002
|
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
0.00002
|
|
NM_000038.6(APC):c.2026A>G (p.Ile676Val)
|
rs745529713
|
0.00002
|
|
NM_000038.6(APC):c.2222A>G (p.Asn741Ser)
|
rs150209825
|
0.00002
|
|
NM_000038.6(APC):c.2240C>T (p.Ser747Leu)
|
rs773020689
|
0.00002
|
|
NM_000038.6(APC):c.2359A>G (p.Ser787Gly)
|
rs748075979
|
0.00002
|
|
NM_000038.6(APC):c.2411A>G (p.Asn804Ser)
|
rs775727621
|
0.00002
|
|
NM_000038.6(APC):c.2444A>C (p.Asn815Thr)
|
rs762990578
|
0.00002
|
|
NM_000038.6(APC):c.2764C>T (p.Leu922Phe)
|
rs150543576
|
0.00002
|
|
NM_000038.6(APC):c.2780C>G (p.Ala927Gly)
|
rs587781500
|
0.00002
|
|
NM_000038.6(APC):c.3341G>A (p.Arg1114Gln)
|
rs753209586
|
0.00002
|
|
NM_000038.6(APC):c.3347G>A (p.Gly1116Asp)
|
rs730881224
|
0.00002
|
|
NM_000038.6(APC):c.3425A>C (p.Asn1142Thr)
|
rs138410865
|
0.00002
|
|
NM_000038.6(APC):c.3661C>T (p.Pro1221Ser)
|
rs760999992
|
0.00002
|
|
NM_000038.6(APC):c.3935G>C (p.Gly1312Ala)
|
rs587779791
|
0.00002
|
|
NM_000038.6(APC):c.3946G>C (p.Ala1316Pro)
|
rs761621587
|
0.00002
|
|
NM_000038.6(APC):c.4124A>G (p.His1375Arg)
|
rs750884499
|
0.00002
|
|
NM_000038.6(APC):c.4343C>T (p.Thr1448Ile)
|
rs907886109
|
0.00002
|
|
NM_000038.6(APC):c.4349G>A (p.Arg1450Gln)
|
rs587782678
|
0.00002
|
|
NM_000038.6(APC):c.4525C>T (p.Leu1509=)
|
rs572839648
|
0.00002
|
|
NM_000038.6(APC):c.4709A>G (p.Asp1570Gly)
|
rs373419559
|
0.00002
|
|
NM_000038.6(APC):c.5060G>A (p.Arg1687Gln)
|
rs779068685
|
0.00002
|
|
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu)
|
rs551183536
|
0.00002
|
|
NM_000038.6(APC):c.5752A>G (p.Ile1918Val)
|
rs776966222
|
0.00002
|
|
NM_000038.6(APC):c.5957C>T (p.Pro1986Leu)
|
rs756266694
|
0.00002
|
|
NM_000038.6(APC):c.6497G>A (p.Arg2166Gln)
|
rs752091655
|
0.00002
|
|
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu)
|
rs748745776
|
0.00002
|
|
NM_000038.6(APC):c.6539A>G (p.Lys2180Arg)
|
rs762955111
|
0.00002
|
|
NM_000038.6(APC):c.6588A>C (p.Lys2196Asn)
|
rs961108427
|
0.00002
|
|
NM_000038.6(APC):c.6670A>G (p.Ile2224Val)
|
rs374597207
|
0.00002
|
|
NM_000038.6(APC):c.7071G>T (p.Lys2357Asn)
|
rs1249303627
|
0.00002
|
|
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)
|
rs377308875
|
0.00002
|
|
NM_000038.6(APC):c.7379C>T (p.Ala2460Val)
|
rs768590443
|
0.00002
|
|
NM_000038.6(APC):c.7391C>A (p.Ser2464Tyr)
|
rs766473931
|
0.00002
|
|
NM_000038.6(APC):c.7495G>C (p.Val2499Leu)
|
rs33941929
|
0.00002
|
|
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys)
|
rs587783036
|
0.00002
|
|
NM_000038.6(APC):c.7577A>G (p.His2526Arg)
|
rs750012595
|
0.00002
|
|
NM_000038.6(APC):c.7821C>T (p.Ser2607=)
|
rs532235331
|
0.00002
|
|
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)
|
rs767286063
|
0.00002
|
|
NM_000038.6(APC):c.8141G>A (p.Arg2714His)
|
rs747362422
|
0.00002
|
|
NM_000038.6(APC):c.8162G>A (p.Arg2721His)
|
rs587780606
|
0.00002
|
|
NM_000038.6(APC):c.835-3T>C
|
rs372090940
|
0.00002
|
|
NM_000038.6(APC):c.8353A>C (p.Asn2785His)
|
rs769736863
|
0.00002
|
|
NM_000038.6(APC):c.8429A>G (p.Asn2810Ser)
|
rs758044862
|
0.00002
|
|
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln)
|
rs760676955
|
0.00002
|
|
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)
|
rs202144949
|
0.00002
|
|
NM_000051.4(ATM):c.1792A>G (p.Ile598Val)
|
rs730881343
|
0.00002
|
|
NM_000051.4(ATM):c.1855A>C (p.Asn619His)
|
rs140882609
|
0.00002
|
|
NM_000051.4(ATM):c.2466+1552G>C
|
rs963653732
|
0.00002
|
|
NM_000051.4(ATM):c.2638+6T>C
|
rs768305533
|
0.00002
|
|
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu)
|
rs567344545
|
0.00002
|
|
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys)
|
rs778123057
|
0.00002
|
|
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile)
|
rs587779838
|
0.00002
|
|
NM_000051.4(ATM):c.4921G>C (p.Asp1641His)
|
rs587782896
|
0.00002
|
|
NM_000051.4(ATM):c.49C>A (p.His17Asn)
|
rs876658161
|
0.00002
|
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
|
NM_000051.4(ATM):c.518G>T (p.Arg173Met)
|
rs372694758
|
0.00002
|
|
NM_000051.4(ATM):c.5319+8A>G
|
rs375051697
|
0.00002
|
|
NM_000051.4(ATM):c.6163A>G (p.Ile2055Val)
|
rs758038580
|
0.00002
|
|
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val)
|
rs587779857
|
0.00002
|
|
NM_000051.4(ATM):c.7358G>A (p.Arg2453His)
|
rs587781361
|
0.00002
|
|
NM_000051.4(ATM):c.7593G>A (p.Met2531Ile)
|
rs786203764
|
0.00002
|
|
NM_000051.4(ATM):c.7630-3C>T
|
rs587782448
|
0.00002
|
|
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys)
|
rs755009196
|
0.00002
|
|
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)
|
rs587779870
|
0.00002
|
|
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg)
|
rs587782001
|
0.00002
|
|
NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg)
|
rs730881324
|
0.00002
|
|
NM_000051.4(ATM):c.9045G>A (p.Glu3015=)
|
rs786203336
|
0.00002
|
|
NM_000051.4(ATM):c.9119T>C (p.Ile3040Thr)
|
rs369870357
|
0.00002
|
|
NM_000051.4(ATM):c.95G>A (p.Arg32His)
|
rs368161489
|
0.00002
|
|
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=)
|
rs772843652
|
0.00002
|
|
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)
|
rs375689672
|
0.00002
|
|
NM_000053.4(ATP7B):c.2122-3C>T
|
rs1593726901
|
0.00002
|
|
NM_000053.4(ATP7B):c.236G>A (p.Arg79Lys)
|
rs375470066
|
0.00002
|
|
NM_000053.4(ATP7B):c.2374C>T (p.Leu792=)
|
rs757244072
|
0.00002
|
|
NM_000053.4(ATP7B):c.2575+5G>C
|
rs551030054
|
0.00002
|
|
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met)
|
rs786204718
|
0.00002
|
|
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=)
|
rs146232015
|
0.00002
|
|
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)
|
rs779323689
|
0.00002
|
|
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr)
|
rs1441316018
|
0.00002
|
|
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)
|
rs749085322
|
0.00002
|
|
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)
|
rs756029120
|
0.00002
|
|
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=)
|
rs761183334
|
0.00002
|
|
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)
|
rs568009639
|
0.00002
|
|
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=)
|
rs564541246
|
0.00002
|
|
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp)
|
rs749626601
|
0.00002
|
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
|
NM_000059.4(BRCA2):c.1078C>G (p.Pro360Ala)
|
rs587782057
|
0.00002
|
|
NM_000059.4(BRCA2):c.1312G>T (p.Asp438Tyr)
|
rs765436962
|
0.00002
|
|
NM_000059.4(BRCA2):c.1376T>C (p.Leu459Ser)
|
rs587781799
|
0.00002
|
|
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala)
|
rs750341436
|
0.00002
|
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
rs80358439
|
0.00002
|
|
NM_000059.4(BRCA2):c.1574C>G (p.Thr525Ser)
|
rs397507271
|
0.00002
|
|
NM_000059.4(BRCA2):c.167A>C (p.Asn56Thr)
|
rs80358454
|
0.00002
|
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
rs80358463
|
0.00002
|
|
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg)
|
rs80358466
|
0.00002
|
|
NM_000059.4(BRCA2):c.1817C>T (p.Pro606Leu)
|
rs80358469
|
0.00002
|
|
NM_000059.4(BRCA2):c.1993A>G (p.Thr665Ala)
|
rs144192844
|
0.00002
|
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00002
|
|
NM_000059.4(BRCA2):c.2299A>C (p.Ser767Arg)
|
rs750755676
|
0.00002
|
|
NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu)
|
rs587782737
|
0.00002
|
|
NM_000059.4(BRCA2):c.2484T>C (p.Tyr828=)
|
rs45619134
|
0.00002
|
|
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro)
|
rs572782576
|
0.00002
|
|
NM_000059.4(BRCA2):c.2671G>C (p.Val891Leu)
|
rs756951335
|
0.00002
|
|
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala)
|
rs80358528
|
0.00002
|
|
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)
|
rs80358559
|
0.00002
|
|
NM_000059.4(BRCA2):c.3208G>T (p.Ala1070Ser)
|
rs372433502
|
0.00002
|
|
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)
|
rs80358575
|
0.00002
|
|
NM_000059.4(BRCA2):c.3304A>T (p.Asn1102Tyr)
|
rs28897719
|
0.00002
|
|
NM_000059.4(BRCA2):c.3358G>C (p.Glu1120Gln)
|
rs587778124
|
0.00002
|
|
NM_000059.4(BRCA2):c.3494A>G (p.His1165Arg)
|
rs587782201
|
0.00002
|
|
NM_000059.4(BRCA2):c.3697G>A (p.Ala1233Thr)
|
rs80358613
|
0.00002
|
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
|
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile)
|
rs80358636
|
0.00002
|
|
NM_000059.4(BRCA2):c.4127G>T (p.Gly1376Val)
|
rs780458959
|
0.00002
|
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
rs398122776
|
0.00002
|
|
NM_000059.4(BRCA2):c.4429A>G (p.Ile1477Val)
|
rs1159807733
|
0.00002
|
|
NM_000059.4(BRCA2):c.4819A>G (p.Ile1607Val)
|
rs200582465
|
0.00002
|
|
NM_000059.4(BRCA2):c.4862G>T (p.Cys1621Phe)
|
rs730881534
|
0.00002
|
|
NM_000059.4(BRCA2):c.4906A>G (p.Lys1636Glu)
|
rs398122788
|
0.00002
|
|
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala)
|
rs587782186
|
0.00002
|
|
NM_000059.4(BRCA2):c.5035A>C (p.Thr1679Pro)
|
rs80358728
|
0.00002
|
|
NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly)
|
rs80358732
|
0.00002
|
|
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala)
|
rs80358742
|
0.00002
|
|
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn)
|
rs587782714
|
0.00002
|
|
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)
|
rs587776466
|
0.00002
|
|
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=)
|
rs80359791
|
0.00002
|
|
NM_000059.4(BRCA2):c.5474C>T (p.Ala1825Val)
|
rs397507352
|
0.00002
|
|
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro)
|
rs730881538
|
0.00002
|
|
NM_000059.4(BRCA2):c.5660C>T (p.Thr1887Met)
|
rs397507795
|
0.00002
|
|
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)
|
rs80358799
|
0.00002
|
|
NM_000059.4(BRCA2):c.5784A>C (p.Glu1928Asp)
|
rs431825335
|
0.00002
|
|
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala)
|
rs41293499
|
0.00002
|
|
NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro)
|
rs80358811
|
0.00002
|
|
NM_000059.4(BRCA2):c.5897A>G (p.His1966Arg)
|
rs80358823
|
0.00002
|
|
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile)
|
rs55730620
|
0.00002
|
|
NM_000059.4(BRCA2):c.5937C>G (p.Ser1979Arg)
|
rs28897737
|
0.00002
|
|
NM_000059.4(BRCA2):c.5975C>T (p.Ser1992Leu)
|
rs80358830
|
0.00002
|
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
|
NM_000059.4(BRCA2):c.6029T>G (p.Val2010Gly)
|
rs80358839
|
0.00002
|
|
NM_000059.4(BRCA2):c.6176G>A (p.Ser2059Asn)
|
rs587780657
|
0.00002
|
|
NM_000059.4(BRCA2):c.6331A>G (p.Lys2111Glu)
|
rs773211804
|
0.00002
|
|
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu)
|
rs80358887
|
0.00002
|
|
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)
|
rs730881549
|
0.00002
|
|
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)
|
rs876660249
|
0.00002
|
|
NM_000059.4(BRCA2):c.7418G>A (p.Cys2473Tyr)
|
rs55924966
|
0.00002
|
|
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)
|
rs587782191
|
0.00002
|
|
NM_000059.4(BRCA2):c.7618C>A (p.Leu2540Met)
|
rs397507390
|
0.00002
|
|
NM_000059.4(BRCA2):c.7643A>G (p.His2548Arg)
|
rs80358992
|
0.00002
|
|
NM_000059.4(BRCA2):c.7684T>C (p.Phe2562Leu)
|
rs80358995
|
0.00002
|
|
NM_000059.4(BRCA2):c.7822C>G (p.Pro2608Ala)
|
rs879255308
|
0.00002
|
|
NM_000059.4(BRCA2):c.784G>C (p.Ala262Pro)
|
rs397507393
|
0.00002
|
|
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=)
|
rs143999963
|
0.00002
|
|
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)
|
rs80359036
|
0.00002
|
|
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr)
|
rs80359038
|
0.00002
|
|
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe)
|
rs80359054
|
0.00002
|
|
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser)
|
rs146120136
|
0.00002
|
|
NM_000059.4(BRCA2):c.8739C>G (p.Asp2913Glu)
|
rs786201996
|
0.00002
|
|
NM_000059.4(BRCA2):c.8755-17A>G
|
rs431825370
|
0.00002
|
|
NM_000059.4(BRCA2):c.8756G>T (p.Gly2919Val)
|
rs80359131
|
0.00002
|
|
NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr)
|
rs56179254
|
0.00002
|
|
NM_000059.4(BRCA2):c.9098C>T (p.Thr3033Ile)
|
rs431825374
|
0.00002
|
|
NM_000059.4(BRCA2):c.9168C>G (p.His3056Gln)
|
rs876661266
|
0.00002
|
|
NM_000059.4(BRCA2):c.9501+4A>G
|
rs81002848
|
0.00002
|
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
|
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)
|
rs76635144
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser)
|
rs756022224
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His)
|
rs553739117
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu)
|
rs748021245
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile)
|
rs200066766
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met)
|
rs777962341
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)
|
rs373525085
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2065G>A (p.Gly689Ser)
|
rs753313121
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val)
|
rs566562378
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val)
|
rs764821044
|
0.00002
|
|
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser)
|
rs369931782
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His)
|
rs545411173
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg)
|
rs146903750
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)
|
rs759934490
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=)
|
rs377715551
|
0.00002
|
|
NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=)
|
rs150020550
|
0.00002
|
|
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)
|
rs774511818
|
0.00002
|
|
NM_000069.3(CACNA1S):c.3680G>A (p.Ser1227Asn)
|
rs745672876
|
0.00002
|
|
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met)
|
rs1224786667
|
0.00002
|
|
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala)
|
rs373248127
|
0.00002
|
|
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile)
|
rs138265497
|
0.00002
|
|
NM_000069.3(CACNA1S):c.4850C>A (p.Ser1617Tyr)
|
rs1313984683
|
0.00002
|
|
NM_000069.3(CACNA1S):c.5001T>C (p.Asn1667=)
|
rs368926575
|
0.00002
|
|
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)
|
rs772226819
|
0.00002
|
|
NM_000069.3(CACNA1S):c.5238G>A (p.Val1746=)
|
rs374660431
|
0.00002
|
|
NM_000069.3(CACNA1S):c.5387G>A (p.Gly1796Asp)
|
rs746407476
|
0.00002
|
|
NM_000069.3(CACNA1S):c.702G>T (p.Val234=)
|
rs752724350
|
0.00002
|
|
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met)
|
rs767790285
|
0.00002
|
|
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln)
|
rs768015104
|
0.00002
|
|
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser)
|
rs375704313
|
0.00002
|
|
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln)
|
rs373407950
|
0.00002
|
|
NM_000077.5(CDKN2A):c.198C>T (p.His66=)
|
rs374984975
|
0.00002
|
|
NM_000077.5(CDKN2A):c.342C>G (p.Pro114=)
|
rs878853648
|
0.00002
|
|
NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln)
|
rs1021622002
|
0.00002
|
|
NM_000090.4(COL3A1):c.1873C>T (p.Pro625Ser)
|
rs747419192
|
0.00002
|
|
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)
|
rs376643618
|
0.00002
|
|
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr)
|
rs775562650
|
0.00002
|
|
NM_000090.4(COL3A1):c.4378G>A (p.Val1460Ile)
|
rs561556753
|
0.00002
|
|
NM_000090.4(COL3A1):c.599A>C (p.Gln200Pro)
|
rs780921226
|
0.00002
|
|
NM_000090.4(COL3A1):c.874G>A (p.Glu292Lys)
|
rs138818489
|
0.00002
|
|
NM_000138.5(FBN1):c.1468+4C>T
|
rs765579667
|
0.00002
|
|
NM_000138.5(FBN1):c.1961-7T>C
|
rs878853675
|
0.00002
|
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00002
|
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
|
NM_000138.5(FBN1):c.4337-3A>C
|
rs770551687
|
0.00002
|
|
NM_000138.5(FBN1):c.4665T>C (p.Val1555=)
|
rs191569116
|
0.00002
|
|
NM_000138.5(FBN1):c.5423-5C>T
|
rs368750818
|
0.00002
|
|
NM_000138.5(FBN1):c.6616+5A>G
|
rs1381778697
|
0.00002
|
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00002
|
|
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)
|
rs112310699
|
0.00002
|
|
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)
|
rs886044779
|
0.00002
|
|
NM_000169.3(GLA):c.192C>T (p.Ile64=)
|
rs1555987080
|
0.00002
|
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
|
NM_000169.3(GLA):c.868A>C (p.Met290Leu)
|
rs375538532
|
0.00002
|
|
NM_000179.3(MSH6):c.1082G>A (p.Arg361His)
|
rs63750440
|
0.00002
|
|
NM_000179.3(MSH6):c.190G>C (p.Ala64Pro)
|
rs587779921
|
0.00002
|
|
NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)
|
rs768444916
|
0.00002
|
|
NM_000179.3(MSH6):c.2857G>A (p.Glu953Lys)
|
rs753034685
|
0.00002
|
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
|
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)
|
rs587782109
|
0.00002
|
|
NM_000179.3(MSH6):c.3969_4001+52dup
|
rs1553333718
|
0.00002
|
|
NM_000179.3(MSH6):c.628-8C>T
|
rs767991179
|
0.00002
|
|
NM_000179.3(MSH6):c.751A>G (p.Ile251Val)
|
rs554884560
|
0.00002
|
|
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys)
|
rs776859837
|
0.00002
|
|
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp)
|
rs63751703
|
0.00002
|
|
NM_000249.4(MLH1):c.1577A>G (p.His526Arg)
|
rs1304802474
|
0.00002
|
|
NM_000249.4(MLH1):c.1732-3T>C
|
rs1207710123
|
0.00002
|
|
NM_000249.4(MLH1):c.1872C>T (p.Asp624=)
|
rs145535636
|
0.00002
|
|
NM_000249.4(MLH1):c.479C>T (p.Ala160Val)
|
rs63749924
|
0.00002
|
|
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln)
|
rs63750268
|
0.00002
|
|
NM_000251.3(MSH2):c.1032G>C (p.Gln344His)
|
rs375799148
|
0.00002
|
|
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala)
|
rs150503781
|
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.1276+7A>G
|
rs748554540
|
0.00002
|
|
NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala)
|
rs41295290
|
0.00002
|
|
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)
|
rs41294982
|
0.00002
|
|
NM_000251.3(MSH2):c.220A>C (p.Asn74His)
|
rs150548839
|
0.00002
|
|
NM_000251.3(MSH2):c.2309T>C (p.Ile770Thr)
|
rs371718349
|
0.00002
|
|
NM_000251.3(MSH2):c.232G>A (p.Val78Ile)
|
rs772779997
|
0.00002
|
|
NM_000251.3(MSH2):c.2379G>T (p.Gln793His)
|
rs767520406
|
0.00002
|
|
NM_000251.3(MSH2):c.2392A>G (p.Asn798Asp)
|
rs786203105
|
0.00002
|
|
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile)
|
rs267608015
|
0.00002
|
|
NM_000251.3(MSH2):c.2582A>T (p.Gln861Leu)
|
rs1313098392
|
0.00002
|
|
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys)
|
rs775390721
|
0.00002
|
|
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)
|
rs587780687
|
0.00002
|
|
NM_000251.3(MSH2):c.304G>A (p.Val102Ile)
|
rs193922373
|
0.00002
|
|
NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys)
|
rs63751173
|
0.00002
|
|
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)
|
rs587779970
|
0.00002
|
|
NM_000251.3(MSH2):c.368C>G (p.Ala123Gly)
|
rs730881767
|
0.00002
|
|
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr)
|
rs730881778
|
0.00002
|
|
NM_000251.3(MSH2):c.703A>G (p.Lys235Glu)
|
rs749442037
|
0.00002
|
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
|
NM_000251.3(MSH2):c.938T>C (p.Phe313Ser)
|
rs780656204
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=)
|
rs727503181
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys)
|
rs397515999
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3190+5G>A
|
rs587782958
|
0.00002
|
|
NM_000257.4(MYH7):c.3854-5C>T
|
rs752385694
|
0.00002
|
|
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=)
|
rs150552664
|
0.00002
|
|
NM_000257.4(MYH7):c.4659C>T (p.His1553=)
|
rs570079347
|
0.00002
|
|
NM_000257.4(MYH7):c.503-4A>G
|
rs376022200
|
0.00002
|
|
NM_000257.4(MYH7):c.5484C>T (p.Ala1828=)
|
rs202175645
|
0.00002
|
|
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met)
|
rs372381770
|
0.00002
|
|
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=)
|
rs200728597
|
0.00002
|
|
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)
|
rs730880923
|
0.00002
|
|
NM_000258.3(MYL3):c.367A>G (p.Lys123Glu)
|
rs536445081
|
0.00002
|
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
|
NM_000268.4(NF2):c.1013G>A (p.Arg338His)
|
rs768053145
|
0.00002
|
|
NM_000268.4(NF2):c.1018G>A (p.Ala340Thr)
|
rs780430071
|
0.00002
|
|
NM_000268.4(NF2):c.1052G>A (p.Arg351His)
|
rs771675702
|
0.00002
|
|
NM_000268.4(NF2):c.1112A>G (p.Asn371Ser)
|
rs577940601
|
0.00002
|
|
NM_000268.4(NF2):c.1391C>T (p.Ala464Val)
|
rs776109136
|
0.00002
|
|
NM_000268.4(NF2):c.1500C>T (p.Leu500=)
|
rs758182356
|
0.00002
|
|
NM_000268.4(NF2):c.599+3G>A
|
rs768301915
|
0.00002
|
|
NM_000268.4(NF2):c.614T>C (p.Met205Thr)
|
rs747871414
|
0.00002
|
|
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)
|
rs587781273
|
0.00002
|
|
NM_000314.8(PTEN):c.425G>A (p.Arg142Gln)
|
rs753630034
|
0.00002
|
|
NM_000321.3(RB1):c.-1C>T
|
rs754354560
|
0.00002
|
|
NM_000321.3(RB1):c.1318G>A (p.Glu440Lys)
|
rs1060503078
|
0.00002
|
|
NM_000321.3(RB1):c.1464G>A (p.Ala488=)
|
rs753520981
|
0.00002
|
|
NM_000321.3(RB1):c.2273C>T (p.Ser758Leu)
|
rs754814477
|
0.00002
|
|
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg)
|
rs374157786
|
0.00002
|
|
NM_000321.3(RB1):c.2533T>C (p.Phe845Leu)
|
rs754183765
|
0.00002
|
|
NM_000321.3(RB1):c.608-7T>G
|
rs746360576
|
0.00002
|
|
NM_000321.3(RB1):c.897T>A (p.Phe299Leu)
|
rs772362181
|
0.00002
|
|
NM_000335.5(SCN5A):c.1702C>T (p.Arg568Cys)
|
rs45600438
|
0.00002
|
|
NM_000335.5(SCN5A):c.3382G>A (p.Gly1128Ser)
|
rs879229776
|
0.00002
|
|
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)
|
rs45514691
|
0.00002
|
|
NM_000363.5(TNNI3):c.151-6C>G
|
rs377258542
|
0.00002
|
|
NM_000363.5(TNNI3):c.236G>T (p.Arg79Leu)
|
rs397516342
|
0.00002
|
|
NM_000368.5(TSC1):c.1030-14T>A
|
rs180810228
|
0.00002
|
|
NM_000368.5(TSC1):c.1251A>G (p.Thr417=)
|
rs147127442
|
0.00002
|
|
NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg)
|
rs878853959
|
0.00002
|
|
NM_000368.5(TSC1):c.1273A>G (p.Met425Val)
|
rs753199284
|
0.00002
|
|
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val)
|
rs1489175329
|
0.00002
|
|
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu)
|
rs770570830
|
0.00002
|
|
NM_000368.5(TSC1):c.1678G>A (p.Gly560Ser)
|
rs746304922
|
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.1934C>T (p.Pro645Leu)
|
rs1269162063
|
0.00002
|
|
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)
|
rs397514800
|
0.00002
|
|
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp)
|
rs1264839312
|
0.00002
|
|
NM_000368.5(TSC1):c.2303G>A (p.Arg768His)
|
rs1033725987
|
0.00002
|
|
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe)
|
rs868755168
|
0.00002
|
|
NM_000368.5(TSC1):c.2424G>A (p.Ala808=)
|
rs200651872
|
0.00002
|
|
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln)
|
rs549467159
|
0.00002
|
|
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln)
|
rs796053461
|
0.00002
|
|
NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly)
|
rs768443391
|
0.00002
|
|
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr)
|
rs112066743
|
0.00002
|
|
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=)
|
rs118203746
|
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.531C>T (p.Leu177=)
|
rs752615412
|
0.00002
|
|
NM_000368.5(TSC1):c.542A>T (p.His181Leu)
|
rs397515294
|
0.00002
|
|
NM_000368.5(TSC1):c.593A>G (p.Asn198Ser)
|
rs577983115
|
0.00002
|
|
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu)
|
rs148756522
|
0.00002
|
|
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg)
|
rs796053452
|
0.00002
|
|
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr)
|
rs752290177
|
0.00002
|
|
NM_000432.4(MYL2):c.355G>A (p.Val119Ile)
|
rs730880940
|
0.00002
|
|
NM_000455.5(STK11):c.1168G>A (p.Val390Met)
|
rs374078532
|
0.00002
|
|
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)
|
rs768058962
|
0.00002
|
|
NM_000455.5(STK11):c.355A>G (p.Asn119Asp)
|
rs545015076
|
0.00002
|
|
NM_000455.5(STK11):c.375-8C>T
|
rs528370544
|
0.00002
|
|
NM_000455.5(STK11):c.464+5G>A
|
rs587781681
|
0.00002
|
|
NM_000455.5(STK11):c.608C>T (p.Pro203Leu)
|
rs587782379
|
0.00002
|
|
NM_000455.5(STK11):c.735-10C>T
|
rs553975112
|
0.00002
|
|
NM_000455.5(STK11):c.863-17C>T
|
rs535445817
|
0.00002
|
|
NM_000455.5(STK11):c.972G>A (p.Pro324=)
|
rs553474397
|
0.00002
|
|
NM_000465.4(BARD1):c.1108C>T (p.Arg370Cys)
|
rs587781596
|
0.00002
|
|
NM_000465.4(BARD1):c.1217G>A (p.Arg406Gln)
|
rs587780014
|
0.00002
|
|
NM_000465.4(BARD1):c.1678A>G (p.Met560Val)
|
rs587780020
|
0.00002
|
|
NM_000465.4(BARD1):c.1838C>A (p.Ala613Glu)
|
rs146629794
|
0.00002
|
|
NM_000465.4(BARD1):c.2083G>A (p.Val695Ile)
|
rs111367604
|
0.00002
|
|
NM_000465.4(BARD1):c.310A>G (p.Met104Val)
|
rs1401565860
|
0.00002
|
|
NM_000465.4(BARD1):c.476G>A (p.Ser159Asn)
|
rs786203226
|
0.00002
|
|
NM_000465.4(BARD1):c.73G>C (p.Ala25Pro)
|
rs751646468
|
0.00002
|
|
NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)
|
rs587780037
|
0.00002
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
rs397509365
|
0.00002
|
|
NM_000527.5(LDLR):c.-153C>T
|
rs879254366
|
0.00002
|
|
NM_000527.5(LDLR):c.-23A>C
|
rs763282380
|
0.00002
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
rs730882096
|
0.00002
|
|
NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln)
|
rs875989914
|
0.00002
|
|
NM_000527.5(LDLR):c.1065C>T (p.Ile355=)
|
rs960032925
|
0.00002
|
|
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn)
|
rs767767730
|
0.00002
|
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
rs765696008
|
0.00002
|
|
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu)
|
rs749780672
|
0.00002
|
|
NM_000527.5(LDLR):c.1359-6C>T
|
rs746370607
|
0.00002
|
|
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)
|
rs730882103
|
0.00002
|
|
NM_000527.5(LDLR):c.1516G>A (p.Val506Met)
|
rs373848925
|
0.00002
|
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
rs373371572
|
0.00002
|
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00002
|
|
NM_000527.5(LDLR):c.2100C>T (p.Asp700=)
|
rs759858813
|
0.00002
|
|
NM_000527.5(LDLR):c.2307C>G (p.His769Gln)
|
rs760479588
|
0.00002
|
|
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
|
rs1135402783
|
0.00002
|
|
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro)
|
rs879255203
|
0.00002
|
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
|
NM_000527.5(LDLR):c.324G>C (p.Thr108=)
|
rs146517429
|
0.00002
|
|
NM_000527.5(LDLR):c.408C>T (p.Asp136=)
|
rs759738744
|
0.00002
|
|
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)
|
rs730882082
|
0.00002
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
rs121908039
|
0.00002
|
|
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys)
|
rs746834464
|
0.00002
|
|
NM_000527.5(LDLR):c.993C>T (p.Asp331=)
|
rs147905921
|
0.00002
|
|
NM_000531.6(OTC):c.148G>A (p.Gly50Arg)
|
rs67486158
|
0.00002
|
|
NM_000531.6(OTC):c.764A>G (p.His255Arg)
|
rs72558440
|
0.00002
|
|
NM_000531.6(OTC):c.89C>A (p.Pro30Gln)
|
rs753712951
|
0.00002
|
|
NM_000535.7(PMS2):c.-1C>A
|
rs369681753
|
0.00002
|
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
|
NM_000535.7(PMS2):c.1357A>G (p.Met453Val)
|
rs587780722
|
0.00002
|
|
NM_000535.7(PMS2):c.139C>G (p.Leu47Val)
|
rs766203500
|
0.00002
|
|
NM_000535.7(PMS2):c.1598T>C (p.Val533Ala)
|
rs1365849986
|
0.00002
|
|
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp)
|
rs142506484
|
0.00002
|
|
NM_000535.7(PMS2):c.1901A>G (p.His634Arg)
|
rs767904893
|
0.00002
|
|
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)
|
rs150630090
|
0.00002
|
|
NM_000535.7(PMS2):c.24-3T>C
|
rs749485884
|
0.00002
|
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
|
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr)
|
rs574371474
|
0.00002
|
|
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys)
|
rs786204133
|
0.00002
|
|
NM_000535.7(PMS2):c.537+6G>A
|
rs1358613918
|
0.00002
|
|
NM_000535.7(PMS2):c.824A>G (p.Gln275Arg)
|
rs546966892
|
0.00002
|
|
NM_000535.7(PMS2):c.852A>G (p.Ser284=)
|
rs766177007
|
0.00002
|
|
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=)
|
rs774663618
|
0.00002
|
|
NM_000540.3(RYR1):c.10347+1G>A
|
rs111436401
|
0.00002
|
|
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp)
|
rs538497899
|
0.00002
|
|
NM_000540.3(RYR1):c.11385C>T (p.Ser3795=)
|
rs757745087
|
0.00002
|
|
NM_000540.3(RYR1):c.11443A>T (p.Met3815Leu)
|
rs368909156
|
0.00002
|
|
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)
|
rs193922764
|
0.00002
|
|
NM_000540.3(RYR1):c.12187A>G (p.Met4063Val)
|
rs181968345
|
0.00002
|
|
NM_000540.3(RYR1):c.14173-2A>G
|
rs1189024951
|
0.00002
|
|
NM_000540.3(RYR1):c.14285C>T (p.Pro4762Leu)
|
rs146793368
|
0.00002
|
|
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)
|
rs193922875
|
0.00002
|
|
NM_000540.3(RYR1):c.14601C>T (p.Ser4867=)
|
rs370469515
|
0.00002
|
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
|
NM_000540.3(RYR1):c.14940G>A (p.Thr4980=)
|
rs765570755
|
0.00002
|
|
NM_000540.3(RYR1):c.2203C>T (p.His735Tyr)
|
rs771629253
|
0.00002
|
|
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys)
|
rs746904839
|
0.00002
|
|
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=)
|
rs569565316
|
0.00002
|
|
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys)
|
rs111272095
|
0.00002
|
|
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=)
|
rs144164620
|
0.00002
|
|
NM_000540.3(RYR1):c.341G>A (p.Arg114His)
|
rs574357386
|
0.00002
|
|
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)
|
rs769744438
|
0.00002
|
|
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)
|
rs763944786
|
0.00002
|
|
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)
|
rs146407179
|
0.00002
|
|
NM_000540.3(RYR1):c.4507G>A (p.Gly1503Arg)
|
rs144747878
|
0.00002
|
|
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=)
|
rs763113534
|
0.00002
|
|
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)
|
rs374115286
|
0.00002
|
|
NM_000540.3(RYR1):c.6207A>G (p.Lys2069=)
|
rs920135778
|
0.00002
|
|
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)
|
rs398123473
|
0.00002
|
|
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val)
|
rs193922791
|
0.00002
|
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
|
NM_000540.3(RYR1):c.7027+4A>T
|
rs753538619
|
0.00002
|
|
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)
|
rs193922810
|
0.00002
|
|
NM_000540.3(RYR1):c.7434C>G (p.Thr2478=)
|
rs747434152
|
0.00002
|
|
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=)
|
rs762212220
|
0.00002
|
|
NM_000540.3(RYR1):c.8093T>C (p.Met2698Thr)
|
rs185021599
|
0.00002
|
|
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=)
|
rs761622550
|
0.00002
|
|
NM_000540.3(RYR1):c.8843del (p.Ser2948fs)
|
rs765921831
|
0.00002
|
|
NM_000540.3(RYR1):c.9555-14G>A
|
rs763353979
|
0.00002
|
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
|
NM_000546.6(TP53):c.997C>T (p.Arg333Cys)
|
rs769934890
|
0.00002
|
|
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu)
|
rs45517154
|
0.00002
|
|
NM_000548.5(TSC2):c.1258-5G>T
|
rs925954967
|
0.00002
|
|
NM_000548.5(TSC2):c.1309G>C (p.Ala437Pro)
|
rs764967942
|
0.00002
|
|
NM_000548.5(TSC2):c.2358C>T (p.Arg786=)
|
rs372834284
|
0.00002
|
|
NM_000548.5(TSC2):c.344G>A (p.Arg115His)
|
rs764529584
|
0.00002
|
|
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=)
|
rs769653533
|
0.00002
|
|
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=)
|
rs377377367
|
0.00002
|
|
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=)
|
rs151140709
|
0.00002
|
|
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn)
|
rs45482398
|
0.00002
|
|
NM_000551.4(VHL):c.315G>C (p.Thr105=)
|
rs769102979
|
0.00002
|
|
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)
|
rs774380450
|
0.00002
|
|
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)
|
rs368325383
|
0.00002
|
|
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)
|
rs767987619
|
0.00002
|
|
NM_001035.3(RYR2):c.3423+6T>G
|
rs1057521957
|
0.00002
|
|
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=)
|
rs759314800
|
0.00002
|
|
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=)
|
rs762521873
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1165C>T (p.Arg389Cys)
|
rs773370513
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His)
|
rs373803765
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp)
|
rs369299948
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)
|
rs587782120
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1277A>C (p.Gln426Pro)
|
rs747614763
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1321G>A (p.Val441Ile)
|
rs779701238
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1512C>A (p.Phe504Leu)
|
rs768671057
|
0.00002
|
|
NM_001048174.2(MUTYH):c.378+3G>A
|
rs373939052
|
0.00002
|
|
NM_001048174.2(MUTYH):c.439G>T (p.Ala147Ser)
|
rs770478980
|
0.00002
|
|
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp)
|
rs779997419
|
0.00002
|
|
NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp)
|
rs587781645
|
0.00002
|
|
NM_001048174.2(MUTYH):c.809G>A (p.Ser270Asn)
|
rs757080586
|
0.00002
|
|
NM_001048174.2(MUTYH):c.877G>A (p.Gly293Arg)
|
rs765686051
|
0.00002
|
|
NM_001048174.2(MUTYH):c.914-19C>T
|
rs758579958
|
0.00002
|
|
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala)
|
rs587778537
|
0.00002
|
|
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr)
|
rs560905645
|
0.00002
|
|
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val)
|
rs727504245
|
0.00002
|
|
NM_001276345.2(TNNT2):c.63T>G (p.Val21=)
|
rs397516477
|
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.1186-15T>A
|
rs1482248002
|
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.1633C>T (p.Pro545Ser)
|
rs1941510179
|
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.426C>T (p.Ser142=)
|
rs753252650
|
0.00002
|
|
NM_001370259.2(MEN1):c.513G>C (p.Arg171=)
|
rs560870111
|
0.00002
|
|
NM_001370259.2(MEN1):c.639C>T (p.Ala213=)
|
rs746067825
|
0.00002
|
|
NM_001370259.2(MEN1):c.989G>A (p.Arg330His)
|
rs373135175
|
0.00002
|
|
NM_001370259.2(MEN1):c.993C>T (p.Asn331=)
|
rs370176253
|
0.00002
|
|
NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala)
|
rs193298428
|
0.00002
|
|
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)
|
rs563865467
|
0.00002
|
|
NM_002474.3(MYH11):c.4974A>G (p.Gln1658=)
|
rs762733113
|
0.00002
|
|
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=)
|
rs774511118
|
0.00002
|
|
NM_002474.3(MYH11):c.5823G>A (p.Arg1941=)
|
rs764375446
|
0.00002
|
|
NM_002474.3(MYH11):c.988G>A (p.Val330Met)
|
rs368938309
|
0.00002
|
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
|
NM_002878.4(RAD51D):c.346-4C>G
|
rs767328693
|
0.00002
|
|
NM_003002.4(SDHD):c.228C>T (p.Leu76=)
|
rs148634289
|
0.00002
|
|
NM_003242.6(TGFBR2):c.1524+3A>G
|
rs1486137817
|
0.00002
|
|
NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys)
|
rs766473954
|
0.00002
|
|
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=)
|
rs756625146
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1048T>C (p.Tyr350His)
|
rs749571434
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1300G>A (p.Gly434Ser)
|
rs587780108
|
0.00002
|
|
NM_004329.3(BMPR1A):c.214A>G (p.Ile72Val)
|
rs1064795729
|
0.00002
|
|
NM_004329.3(BMPR1A):c.455G>A (p.Arg152Gln)
|
rs567009904
|
0.00002
|
|
NM_004329.3(BMPR1A):c.560G>A (p.Arg187His)
|
rs189059377
|
0.00002
|
|
NM_004329.3(BMPR1A):c.587A>G (p.Asp196Gly)
|
rs141608069
|
0.00002
|
|
NM_004329.3(BMPR1A):c.725A>G (p.Lys242Arg)
|
rs762926637
|
0.00002
|
|
NM_004329.3(BMPR1A):c.731G>A (p.Arg244Gln)
|
rs147971049
|
0.00002
|
|
NM_004329.3(BMPR1A):c.911A>G (p.Gln304Arg)
|
rs730881434
|
0.00002
|
|
NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg)
|
rs755462552
|
0.00002
|
|
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu)
|
rs587782359
|
0.00002
|
|
NM_004360.5(CDH1):c.1178T>A (p.Ile393Asn)
|
rs34466743
|
0.00002
|
|
NM_004360.5(CDH1):c.1314A>G (p.Thr438=)
|
rs547316616
|
0.00002
|
|
NM_004360.5(CDH1):c.1585A>C (p.Thr529Pro)
|
rs776890776
|
0.00002
|
|
NM_004360.5(CDH1):c.1610C>T (p.Pro537Leu)
|
rs730881667
|
0.00002
|
|
NM_004360.5(CDH1):c.177T>G (p.Asp59Glu)
|
rs587780116
|
0.00002
|
|
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln)
|
rs587780117
|
0.00002
|
|
NM_004360.5(CDH1):c.1930G>A (p.Asp644Asn)
|
rs587781696
|
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.2359G>A (p.Val787Ile)
|
rs766270336
|
0.00002
|
|
NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe)
|
rs786202598
|
0.00002
|
|
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln)
|
rs587782647
|
0.00002
|
|
NM_004360.5(CDH1):c.276T>G (p.His92Gln)
|
rs770967343
|
0.00002
|
|
NM_004360.5(CDH1):c.344C>T (p.Thr115Met)
|
rs370973869
|
0.00002
|
|
NM_004360.5(CDH1):c.388-8C>T
|
rs774601444
|
0.00002
|
|
NM_004360.5(CDH1):c.404T>A (p.Ile135Asn)
|
rs1555515189
|
0.00002
|
|
NM_004360.5(CDH1):c.4G>A (p.Gly2Ser)
|
rs786201212
|
0.00002
|
|
NM_004360.5(CDH1):c.531+3A>G
|
rs766563354
|
0.00002
|
|
NM_004360.5(CDH1):c.866C>T (p.Ala289Val)
|
rs780399325
|
0.00002
|
|
NM_004360.5(CDH1):c.957T>A (p.Ile319=)
|
rs549252135
|
0.00002
|
|
NM_004415.4(DSP):c.3282G>A (p.Lys1094=)
|
rs2491080
|
0.00002
|
|
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg)
|
rs746782582
|
0.00002
|
|
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)
|
rs766157497
|
0.00002
|
|
NM_004612.4(TGFBR1):c.343+3A>G
|
rs374717754
|
0.00002
|
|
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His)
|
rs777965779
|
0.00002
|
|
NM_004656.4(BAP1):c.1225G>A (p.Val409Met)
|
rs756443059
|
0.00002
|
|
NM_004656.4(BAP1):c.1345G>A (p.Ala449Thr)
|
rs764734266
|
0.00002
|
|
NM_004656.4(BAP1):c.1551G>A (p.Thr517=)
|
rs145158446
|
0.00002
|
|
NM_004656.4(BAP1):c.1552C>T (p.Arg518Trp)
|
rs775789477
|
0.00002
|
|
NM_004656.4(BAP1):c.1609A>G (p.Ser537Gly)
|
rs747109385
|
0.00002
|
|
NM_004656.4(BAP1):c.1652G>A (p.Arg551His)
|
rs759448397
|
0.00002
|
|
NM_004656.4(BAP1):c.1807G>A (p.Val603Ile)
|
rs1329653090
|
0.00002
|
|
NM_004656.4(BAP1):c.340C>T (p.Arg114Cys)
|
rs761048859
|
0.00002
|
|
NM_004656.4(BAP1):c.358A>G (p.Lys120Glu)
|
rs774573926
|
0.00002
|
|
NM_004656.4(BAP1):c.757C>A (p.Gln253Lys)
|
rs776240891
|
0.00002
|
|
NM_004656.4(BAP1):c.797C>T (p.Thr266Ile)
|
rs769338697
|
0.00002
|
|
NM_005359.6(SMAD4):c.132A>G (p.Val44=)
|
rs965942065
|
0.00002
|
|
NM_005359.6(SMAD4):c.647A>G (p.Asn216Ser)
|
rs138386557
|
0.00002
|
|
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)
|
rs539739051
|
0.00002
|
|
NM_005902.4(SMAD3):c.27C>T (p.Pro9=)
|
rs765454938
|
0.00002
|
|
NM_005902.4(SMAD3):c.372C>A (p.Pro124=)
|
rs765624013
|
0.00002
|
|
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg)
|
rs755924969
|
0.00002
|
|
NM_005902.4(SMAD3):c.730G>A (p.Val244Ile)
|
rs773543026
|
0.00002
|
|
NM_005902.4(SMAD3):c.968G>A (p.Arg323His)
|
rs758586312
|
0.00002
|
|
NM_005902.4(SMAD3):c.999G>A (p.Lys333=)
|
rs781081744
|
0.00002
|
|
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr)
|
rs864622537
|
0.00002
|
|
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)
|
rs373073383
|
0.00002
|
|
NM_007194.4(CHEK2):c.24G>T (p.Glu8Asp)
|
rs780920036
|
0.00002
|
|
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)
|
rs587782070
|
0.00002
|
|
NM_007194.4(CHEK2):c.428A>G (p.His143Arg)
|
rs587782300
|
0.00002
|
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
|
NM_007194.4(CHEK2):c.500G>A (p.Gly167Glu)
|
rs144850845
|
0.00002
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
0.00002
|
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
|
NM_007294.4(BRCA1):c.1096G>C (p.Asp366His)
|
rs1289961661
|
0.00002
|
|
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser)
|
rs80357113
|
0.00002
|
|
NM_007294.4(BRCA1):c.1253A>C (p.Glu418Ala)
|
rs1555592050
|
0.00002
|
|
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly)
|
rs730881442
|
0.00002
|
|
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys)
|
rs397508902
|
0.00002
|
|
NM_007294.4(BRCA1):c.1762A>G (p.Ser588Gly)
|
rs1169162396
|
0.00002
|
|
NM_007294.4(BRCA1):c.2008G>A (p.Glu670Lys)
|
rs80357029
|
0.00002
|
|
NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro)
|
rs28897680
|
0.00002
|
|
NM_007294.4(BRCA1):c.22G>A (p.Val8Ile)
|
rs528902306
|
0.00002
|
|
NM_007294.4(BRCA1):c.2500G>C (p.Gly834Arg)
|
rs786202215
|
0.00002
|
|
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly)
|
rs28897684
|
0.00002
|
|
NM_007294.4(BRCA1):c.2630A>G (p.Asn877Ser)
|
rs786203689
|
0.00002
|
|
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)
|
rs80357480
|
0.00002
|
|
NM_007294.4(BRCA1):c.2783G>A (p.Gly928Asp)
|
rs202004680
|
0.00002
|
|
NM_007294.4(BRCA1):c.3041T>A (p.Met1014Lys)
|
rs80357020
|
0.00002
|
|
NM_007294.4(BRCA1):c.3746C>G (p.Thr1249Ser)
|
rs80357099
|
0.00002
|
|
NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys)
|
rs80357202
|
0.00002
|
|
NM_007294.4(BRCA1):c.441G>C (p.Leu147Phe)
|
rs748876625
|
0.00002
|
|
NM_007294.4(BRCA1):c.4676-7C>T
|
rs80358005
|
0.00002
|
|
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr)
|
rs80356968
|
0.00002
|
|
NM_007294.4(BRCA1):c.4987-4T>G
|
rs1157151499
|
0.00002
|
|
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met)
|
rs80357169
|
0.00002
|
|
NM_007294.4(BRCA1):c.4997A>G (p.Tyr1666Cys)
|
rs397509216
|
0.00002
|
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
|
NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly)
|
rs80357501
|
0.00002
|
|
NM_007294.4(BRCA1):c.5328C>T (p.Pro1776=)
|
rs759867616
|
0.00002
|
|
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala)
|
rs80357451
|
0.00002
|
|
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln)
|
rs273902776
|
0.00002
|
|
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)
|
rs80357322
|
0.00002
|
|
NM_007294.4(BRCA1):c.626C>T (p.Pro209Leu)
|
rs201596327
|
0.00002
|
|
NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly)
|
rs80357199
|
0.00002
|
|
NM_007294.4(BRCA1):c.891G>A (p.Met297Ile)
|
rs80357103
|
0.00002
|
|
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp)
|
rs80357176
|
0.00002
|
|
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)
|
rs767613486
|
0.00002
|
|
NM_016203.4(PRKAG2):c.685-5C>A
|
rs779931367
|
0.00002
|
|
NM_017841.4(SDHAF2):c.371-4G>T
|
rs775160119
|
0.00002
|
|
NM_020975.6(RET):c.1424G>A (p.Arg475Gln)
|
rs138624658
|
0.00002
|
|
NM_020975.6(RET):c.1914C>T (p.Ile638=)
|
rs375041479
|
0.00002
|
|
NM_020975.6(RET):c.2226G>A (p.Thr742=)
|
rs762876946
|
0.00002
|
|
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)
|
rs200127630
|
0.00002
|
|
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu)
|
rs760625882
|
0.00002
|
|
NM_024422.6(DSC2):c.20C>T (p.Ser7Phe)
|
rs1227564823
|
0.00002
|
|
NM_024426.6(WT1):c.1568G>A (p.Ter523=)
|
rs148856160
|
0.00002
|
|
NM_024675.4(PALB2):c.1004A>G (p.Asn335Ser)
|
rs1368473544
|
0.00002
|
|
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly)
|
rs773001248
|
0.00002
|
|
NM_024675.4(PALB2):c.1377C>A (p.Asp459Glu)
|
rs771002573
|
0.00002
|
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
|
NM_024675.4(PALB2):c.1753G>A (p.Asp585Asn)
|
rs878855102
|
0.00002
|
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
|
NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys)
|
rs62625278
|
0.00002
|
|
NM_024675.4(PALB2):c.2278C>A (p.Leu760Ile)
|
rs769634658
|
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.2755G>A (p.Val919Ile)
|
rs775193384
|
0.00002
|
|
NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)
|
rs45464500
|
0.00002
|
|
NM_024675.4(PALB2):c.2953T>C (p.Ser985Pro)
|
rs139726856
|
0.00002
|
|
NM_024675.4(PALB2):c.2989G>T (p.Asp997Tyr)
|
rs1555459513
|
0.00002
|
|
NM_024675.4(PALB2):c.740C>G (p.Thr247Arg)
|
rs587782658
|
0.00002
|
|
NM_024675.4(PALB2):c.808A>G (p.Ser270Gly)
|
rs1347076714
|
0.00002
|
|
NM_024675.4(PALB2):c.995T>A (p.Leu332His)
|
rs377149139
|
0.00002
|
|
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp)
|
rs587780225
|
0.00002
|
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00002
|
|
NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=)
|
rs372760869
|
0.00002
|
|
NM_032043.3(BRIP1):c.2554A>G (p.Asn852Asp)
|
rs745782331
|
0.00002
|
|
NM_032043.3(BRIP1):c.2905+4T>C
|
rs373835270
|
0.00002
|
|
NM_032043.3(BRIP1):c.2906-7T>C
|
rs1237575383
|
0.00002
|
|
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser)
|
rs916937983
|
0.00002
|
|
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)
|
rs587781923
|
0.00002
|
|
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)
|
rs587780248
|
0.00002
|
|
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)
|
rs761405340
|
0.00002
|
|
NM_032043.3(BRIP1):c.362C>G (p.Thr121Ser)
|
rs777630298
|
0.00002
|
|
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser)
|
rs730881623
|
0.00002
|
|
NM_032043.3(BRIP1):c.397A>T (p.Thr133Ser)
|
rs764256720
|
0.00002
|
|
NM_032043.3(BRIP1):c.661A>G (p.Thr221Ala)
|
rs777618772
|
0.00002
|
|
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln)
|
rs758360637
|
0.00002
|
|
NM_058216.3(RAD51C):c.1061C>T (p.Ala354Val)
|
rs761770500
|
0.00002
|
|
NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys)
|
rs773998134
|
0.00002
|
|
NM_058216.3(RAD51C):c.1117G>A (p.Glu373Lys)
|
rs1433497291
|
0.00002
|
|
NM_058216.3(RAD51C):c.451G>A (p.Val151Met)
|
rs753912045
|
0.00002
|
|
NM_058216.3(RAD51C):c.537C>A (p.His179Gln)
|
rs372385738
|
0.00002
|
|
NM_058216.3(RAD51C):c.622A>G (p.Ile208Val)
|
rs771078849
|
0.00002
|
|
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr)
|
rs539341386
|
0.00002
|
|
NM_058216.3(RAD51C):c.746G>A (p.Arg249His)
|
rs730881925
|
0.00002
|
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
|
NM_058216.3(RAD51C):c.923C>G (p.Ala308Gly)
|
rs786203498
|
0.00002
|
|
NM_174936.4(PCSK9):c.10G>A (p.Val4Ile)
|
rs186669805
|
0.00002
|
|
NM_174936.4(PCSK9):c.1119C>T (p.Ser373=)
|
rs139683719
|
0.00002
|
|
NM_174936.4(PCSK9):c.787G>A (p.Gly263Ser)
|
rs200146448
|
0.00002
|
|
NC_000011.10:g.47342749C>T
|
rs746542705
|
0.00001
|
|
NC_000019.10:g.11089358C>A
|
rs934415028
|
0.00001
|
|
NM_000038.6(APC):c.1033A>G (p.Ile345Val)
|
rs767126766
|
0.00001
|
|
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)
|
rs141582813
|
0.00001
|
|
NM_000038.6(APC):c.1243G>A (p.Ala415Thr)
|
rs756336949
|
0.00001
|
|
NM_000038.6(APC):c.1264G>A (p.Glu422Lys)
|
rs755069015
|
0.00001
|
|
NM_000038.6(APC):c.1291A>G (p.Met431Val)
|
rs730881235
|
0.00001
|
|
NM_000038.6(APC):c.1313T>C (p.Met438Thr)
|
rs774212108
|
0.00001
|
|
NM_000038.6(APC):c.1342C>G (p.Pro448Ala)
|
rs374195067
|
0.00001
|
|
NM_000038.6(APC):c.139G>A (p.Val47Ile)
|
rs969611536
|
0.00001
|
|
NM_000038.6(APC):c.1441G>A (p.Val481Met)
|
rs587780542
|
0.00001
|
|
NM_000038.6(APC):c.1483A>G (p.Ile495Val)
|
rs372047677
|
0.00001
|
|
NM_000038.6(APC):c.1626+4C>A
|
rs1202435147
|
0.00001
|
|
NM_000038.6(APC):c.1744-3T>C
|
rs760166803
|
0.00001
|
|
NM_000038.6(APC):c.1803G>C (p.Glu601Asp)
|
rs1447250546
|
0.00001
|
|
NM_000038.6(APC):c.1811C>G (p.Ala604Gly)
|
rs370955311
|
0.00001
|
|
NM_000038.6(APC):c.1876A>G (p.Thr626Ala)
|
rs771748555
|
0.00001
|
|
NM_000038.6(APC):c.1895T>C (p.Ile632Thr)
|
rs587781360
|
0.00001
|
|
NM_000038.6(APC):c.1966C>G (p.Leu656Val)
|
rs577466163
|
0.00001
|
|
NM_000038.6(APC):c.220+4G>A
|
rs973491846
|
0.00001
|
|
NM_000038.6(APC):c.2203G>C (p.Ala735Pro)
|
rs559313229
|
0.00001
|
|
NM_000038.6(APC):c.2218G>C (p.Ala740Pro)
|
rs587781394
|
0.00001
|
|
NM_000038.6(APC):c.2228T>C (p.Met743Thr)
|
rs878853425
|
0.00001
|
|
NM_000038.6(APC):c.2483C>T (p.Thr828Ile)
|
rs786203696
|
0.00001
|
|
NM_000038.6(APC):c.251G>T (p.Gly84Val)
|
rs143145868
|
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.2545G>A (p.Asp849Asn)
|
rs752193945
|
0.00001
|
|
NM_000038.6(APC):c.262C>T (p.Arg88Trp)
|
rs746592911
|
0.00001
|
|
NM_000038.6(APC):c.2672T>C (p.Met891Thr)
|
rs876660004
|
0.00001
|
|
NM_000038.6(APC):c.2677G>A (p.Glu893Lys)
|
rs199740875
|
0.00001
|
|
NM_000038.6(APC):c.2719G>A (p.Gly907Arg)
|
rs771458366
|
0.00001
|
|
NM_000038.6(APC):c.2733A>T (p.Glu911Asp)
|
rs770018276
|
0.00001
|
|
NM_000038.6(APC):c.273G>A (p.Met91Ile)
|
rs745394881
|
0.00001
|
|
NM_000038.6(APC):c.275C>G (p.Ser92Cys)
|
rs769708176
|
0.00001
|
|
NM_000038.6(APC):c.2811C>T (p.Phe937=)
|
rs781367306
|
0.00001
|
|
NM_000038.6(APC):c.287A>G (p.Tyr96Cys)
|
rs760770847
|
0.00001
|
|
NM_000038.6(APC):c.2898T>A (p.Ser966Arg)
|
rs876660579
|
0.00001
|
|
NM_000038.6(APC):c.2909G>A (p.Ser970Asn)
|
rs767473403
|
0.00001
|
|
NM_000038.6(APC):c.2930G>A (p.Gly977Asp)
|
rs749807999
|
0.00001
|
|
NM_000038.6(APC):c.2945C>T (p.Ser982Leu)
|
rs139773221
|
0.00001
|
|
NM_000038.6(APC):c.2993G>T (p.Gly998Val)
|
rs759579036
|
0.00001
|
|
NM_000038.6(APC):c.304T>C (p.Ser102Pro)
|
rs753302494
|
0.00001
|
|
NM_000038.6(APC):c.3161A>C (p.His1054Pro)
|
rs777538550
|
0.00001
|
|
NM_000038.6(APC):c.3242G>A (p.Ser1081Asn)
|
rs374380039
|
0.00001
|
|
NM_000038.6(APC):c.3314G>A (p.Arg1105Gln)
|
rs548176472
|
0.00001
|
|
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser)
|
rs151286353
|
0.00001
|
|
NM_000038.6(APC):c.3383C>G (p.Ser1128Cys)
|
rs755586334
|
0.00001
|
|
NM_000038.6(APC):c.3404A>G (p.Tyr1135Cys)
|
rs754916822
|
0.00001
|
|
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln)
|
rs201550951
|
0.00001
|
|
NM_000038.6(APC):c.3419C>G (p.Pro1140Arg)
|
rs1060503351
|
0.00001
|
|
NM_000038.6(APC):c.3426T>A (p.Asn1142Lys)
|
rs375478525
|
0.00001
|
|
NM_000038.6(APC):c.3428A>G (p.Tyr1143Cys)
|
rs1419180532
|
0.00001
|
|
NM_000038.6(APC):c.3445G>A (p.Glu1149Lys)
|
rs371117193
|
0.00001
|
|
NM_000038.6(APC):c.3578A>G (p.Gln1193Arg)
|
rs1060503260
|
0.00001
|
|
NM_000038.6(APC):c.3605C>G (p.Ser1202Cys)
|
rs753375023
|
0.00001
|
|
NM_000038.6(APC):c.365G>T (p.Gly122Val)
|
rs755660899
|
0.00001
|
|
NM_000038.6(APC):c.3824G>C (p.Ser1275Thr)
|
rs587781637
|
0.00001
|
|
NM_000038.6(APC):c.3868A>G (p.Asn1290Asp)
|
rs752977559
|
0.00001
|
|
NM_000038.6(APC):c.3902C>T (p.Thr1301Ile)
|
rs781535021
|
0.00001
|
|
NM_000038.6(APC):c.3910A>G (p.Ile1304Val)
|
rs770157475
|
0.00001
|
|
NM_000038.6(APC):c.3959T>A (p.Val1320Glu)
|
rs760485028
|
0.00001
|
|
NM_000038.6(APC):c.3964G>A (p.Glu1322Lys)
|
rs752926571
|
0.00001
|
|
NM_000038.6(APC):c.4101G>C (p.Gln1367His)
|
rs761886683
|
0.00001
|
|
NM_000038.6(APC):c.4143A>C (p.Pro1381=)
|
rs778565823
|
0.00001
|
|
NM_000038.6(APC):c.4310A>G (p.Lys1437Arg)
|
rs745825088
|
0.00001
|
|
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala)
|
rs587780597
|
0.00001
|
|
NM_000038.6(APC):c.4351G>A (p.Glu1451Lys)
|
rs1325458165
|
0.00001
|
|
NM_000038.6(APC):c.4376C>G (p.Thr1459Ser)
|
rs756048549
|
0.00001
|
|
NM_000038.6(APC):c.445G>C (p.Asp149His)
|
rs767875993
|
0.00001
|
|
NM_000038.6(APC):c.4487C>G (p.Thr1496Ser)
|
rs2229996
|
0.00001
|
|
NM_000038.6(APC):c.4495G>C (p.Gly1499Arg)
|
rs756912930
|
0.00001
|
|
NM_000038.6(APC):c.4534G>A (p.Asp1512Asn)
|
rs778699501
|
0.00001
|
|
NM_000038.6(APC):c.4597A>G (p.Asn1533Asp)
|
rs730881226
|
0.00001
|
|
NM_000038.6(APC):c.468C>G (p.Asp156Glu)
|
rs752627126
|
0.00001
|
|
NM_000038.6(APC):c.4742C>G (p.Ser1581Cys)
|
rs377169217
|
0.00001
|
|
NM_000038.6(APC):c.4766G>A (p.Arg1589His)
|
rs374048423
|
0.00001
|
|
NM_000038.6(APC):c.4813G>A (p.Val1605Met)
|
rs1554086219
|
0.00001
|
|
NM_000038.6(APC):c.4906G>T (p.Asp1636Tyr)
|
rs730882128
|
0.00001
|
|
NM_000038.6(APC):c.4913T>C (p.Met1638Thr)
|
rs201797422
|
0.00001
|
|
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)
|
rs759441332
|
0.00001
|
|
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)
|
rs587779796
|
0.00001
|
|
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)
|
rs769273526
|
0.00001
|
|
NM_000038.6(APC):c.5189C>T (p.Ser1730Phe)
|
rs864622256
|
0.00001
|
|
NM_000038.6(APC):c.5213A>C (p.His1738Pro)
|
rs149882057
|
0.00001
|
|
NM_000038.6(APC):c.5224C>T (p.Arg1742Cys)
|
rs876658835
|
0.00001
|
|
NM_000038.6(APC):c.5264C>T (p.Ala1755Val)
|
rs771967537
|
0.00001
|
|
NM_000038.6(APC):c.5267C>T (p.Ser1756Phe)
|
rs773178712
|
0.00001
|
|
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)
|
rs752038930
|
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.5362C>T (p.Arg1788Cys)
|
rs773125634
|
0.00001
|
|
NM_000038.6(APC):c.5422A>G (p.Asn1808Asp)
|
rs533762549
|
0.00001
|
|
NM_000038.6(APC):c.5486A>G (p.Asn1829Ser)
|
rs767612847
|
0.00001
|
|
NM_000038.6(APC):c.5500G>A (p.Val1834Ile)
|
rs555944438
|
0.00001
|
|
NM_000038.6(APC):c.5608G>A (p.Asp1870Asn)
|
rs769579396
|
0.00001
|
|
NM_000038.6(APC):c.5611G>T (p.Asp1871Tyr)
|
rs538571038
|
0.00001
|
|
NM_000038.6(APC):c.5627G>T (p.Arg1876Met)
|
rs773201570
|
0.00001
|
|
NM_000038.6(APC):c.5737A>G (p.Ile1913Val)
|
rs1554086935
|
0.00001
|
|
NM_000038.6(APC):c.5741C>G (p.Ala1914Gly)
|
rs199904481
|
0.00001
|
|
NM_000038.6(APC):c.5779C>A (p.Leu1927Ile)
|
rs730881253
|
0.00001
|
|
NM_000038.6(APC):c.5794A>T (p.Thr1932Ser)
|
rs777604445
|
0.00001
|
|
NM_000038.6(APC):c.5918G>A (p.Ser1973Asn)
|
rs4987109
|
0.00001
|
|
NM_000038.6(APC):c.5939A>G (p.Asn1980Ser)
|
rs180727920
|
0.00001
|
|
NM_000038.6(APC):c.6136G>A (p.Ala2046Thr)
|
rs770406711
|
0.00001
|
|
NM_000038.6(APC):c.6230C>T (p.Thr2077Ile)
|
rs755022193
|
0.00001
|
|
NM_000038.6(APC):c.6245A>G (p.Asp2082Gly)
|
rs554370603
|
0.00001
|
|
NM_000038.6(APC):c.6249A>G (p.Ile2083Met)
|
rs374625279
|
0.00001
|
|
NM_000038.6(APC):c.6256C>G (p.Pro2086Ala)
|
rs780667260
|
0.00001
|
|
NM_000038.6(APC):c.6403A>G (p.Ile2135Val)
|
rs757633174
|
0.00001
|
|
NM_000038.6(APC):c.6446A>C (p.His2149Pro)
|
rs749230730
|
0.00001
|
|
NM_000038.6(APC):c.6487A>C (p.Lys2163Gln)
|
rs759728732
|
0.00001
|
|
NM_000038.6(APC):c.6547T>A (p.Ser2183Thr)
|
rs764180204
|
0.00001
|
|
NM_000038.6(APC):c.6554G>A (p.Ser2185Asn)
|
rs764255983
|
0.00001
|
|
NM_000038.6(APC):c.6601G>A (p.Gly2201Arg)
|
rs753573633
|
0.00001
|
|
NM_000038.6(APC):c.6658A>G (p.Asn2220Asp)
|
rs374464049
|
0.00001
|
|
NM_000038.6(APC):c.6736G>A (p.Val2246Ile)
|
rs1055180096
|
0.00001
|
|
NM_000038.6(APC):c.6779G>A (p.Ser2260Asn)
|
rs587781393
|
0.00001
|
|
NM_000038.6(APC):c.6785G>T (p.Ser2262Ile)
|
rs878853465
|
0.00001
|
|
NM_000038.6(APC):c.6790G>T (p.Gly2264Cys)
|
rs755904252
|
0.00001
|
|
NM_000038.6(APC):c.6887G>A (p.Ser2296Asn)
|
rs919611781
|
0.00001
|
|
NM_000038.6(APC):c.688C>T (p.Arg230Cys)
|
rs587779805
|
0.00001
|
|
NM_000038.6(APC):c.6920C>T (p.Ser2307Leu)
|
rs901983934
|
0.00001
|
|
NM_000038.6(APC):c.6952A>G (p.Ser2318Gly)
|
rs747056590
|
0.00001
|
|
NM_000038.6(APC):c.695G>A (p.Arg232Gln)
|
rs201727026
|
0.00001
|
|
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)
|
rs1057517549
|
0.00001
|
|
NM_000038.6(APC):c.7172T>G (p.Ile2391Ser)
|
rs747797803
|
0.00001
|
|
NM_000038.6(APC):c.7210A>G (p.Met2404Val)
|
rs1766413072
|
0.00001
|
|
NM_000038.6(APC):c.7378G>C (p.Ala2460Pro)
|
rs771929461
|
0.00001
|
|
NM_000038.6(APC):c.7389A>C (p.Glu2463Asp)
|
rs587782127
|
0.00001
|
|
NM_000038.6(APC):c.7478T>C (p.Leu2493Pro)
|
rs769889352
|
0.00001
|
|
NM_000038.6(APC):c.749A>G (p.His250Arg)
|
rs774296531
|
0.00001
|
|
NM_000038.6(APC):c.7541C>G (p.Thr2514Ser)
|
rs747833393
|
0.00001
|
|
NM_000038.6(APC):c.7573C>T (p.Arg2525Cys)
|
rs774952444
|
0.00001
|
|
NM_000038.6(APC):c.7588C>T (p.Arg2530Trp)
|
rs730881265
|
0.00001
|
|
NM_000038.6(APC):c.764A>G (p.His255Arg)
|
rs530670052
|
0.00001
|
|
NM_000038.6(APC):c.7679G>A (p.Arg2560Gln)
|
rs759069096
|
0.00001
|
|
NM_000038.6(APC):c.7750G>A (p.Ala2584Thr)
|
rs763786323
|
0.00001
|
|
NM_000038.6(APC):c.775C>T (p.Arg259Trp)
|
rs762117133
|
0.00001
|
|
NM_000038.6(APC):c.7766A>G (p.Glu2589Gly)
|
rs200406572
|
0.00001
|
|
NM_000038.6(APC):c.7793C>A (p.Thr2598Asn)
|
rs747339588
|
0.00001
|
|
NM_000038.6(APC):c.7822G>A (p.Ala2608Thr)
|
rs878853471
|
0.00001
|
|
NM_000038.6(APC):c.7858T>A (p.Phe2620Ile)
|
rs587781816
|
0.00001
|
|
NM_000038.6(APC):c.8030G>A (p.Gly2677Asp)
|
rs760391304
|
0.00001
|
|
NM_000038.6(APC):c.8057T>C (p.Val2686Ala)
|
rs757901425
|
0.00001
|
|
NM_000038.6(APC):c.835-4T>G
|
rs756807560
|
0.00001
|
|
NM_000038.6(APC):c.8399C>T (p.Ala2800Val)
|
rs141024271
|
0.00001
|
|
NM_000038.6(APC):c.8412G>T (p.Gln2804His)
|
rs878853476
|
0.00001
|
|
NM_000038.6(APC):c.8447G>A (p.Arg2816Gln)
|
rs769704991
|
0.00001
|
|
NM_000038.6(APC):c.8480G>A (p.Gly2827Glu)
|
rs571511652
|
0.00001
|
|
NM_000038.6(APC):c.884G>T (p.Ser295Ile)
|
rs752996559
|
0.00001
|
|
NM_000038.6(APC):c.889A>G (p.Thr297Ala)
|
rs876660572
|
0.00001
|
|
NM_000038.6(APC):c.933+5C>A
|
rs573528468
|
0.00001
|
|
NM_000051.4(ATM):c.104G>A (p.Arg35Gln)
|
rs876659324
|
0.00001
|
|
NM_000051.4(ATM):c.1080T>G (p.Asp360Glu)
|
rs199869975
|
0.00001
|
|
NM_000051.4(ATM):c.1112C>T (p.Thr371Ile)
|
rs879254289
|
0.00001
|
|
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)
|
rs34083085
|
0.00001
|
|
NM_000051.4(ATM):c.121A>G (p.Lys41Glu)
|
rs1060501672
|
0.00001
|
|
NM_000051.4(ATM):c.1334A>G (p.Gln445Arg)
|
rs1591523341
|
0.00001
|
|
NM_000051.4(ATM):c.134G>A (p.Arg45Gln)
|
rs762382111
|
0.00001
|
|
NM_000051.4(ATM):c.1443A>C (p.Leu481Phe)
|
rs753808755
|
0.00001
|
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
|
NM_000051.4(ATM):c.1466G>T (p.Cys489Phe)
|
rs776412334
|
0.00001
|
|
NM_000051.4(ATM):c.1505C>G (p.Ala502Gly)
|
rs766595156
|
0.00001
|
|
NM_000051.4(ATM):c.1556T>C (p.Val519Ala)
|
rs574458765
|
0.00001
|
|
NM_000051.4(ATM):c.1688T>G (p.Met563Arg)
|
rs750815208
|
0.00001
|
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
|
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser)
|
rs786203230
|
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.1790C>T (p.Pro597Leu)
|
rs765847854
|
0.00001
|
|
NM_000051.4(ATM):c.1805A>G (p.Asn602Ser)
|
rs1173305253
|
0.00001
|
|
NM_000051.4(ATM):c.1903C>T (p.His635Tyr)
|
rs761491947
|
0.00001
|
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
|
NM_000051.4(ATM):c.2019G>A (p.Lys673=)
|
rs786203021
|
0.00001
|
|
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
|
rs765965513
|
0.00001
|
|
NM_000051.4(ATM):c.2075G>A (p.Arg692His)
|
rs751515818
|
0.00001
|
|
NM_000051.4(ATM):c.2124+6A>T
|
rs550998406
|
0.00001
|
|
NM_000051.4(ATM):c.2131A>G (p.Asn711Asp)
|
rs587781654
|
0.00001
|
|
NM_000051.4(ATM):c.2262A>G (p.Gln754=)
|
rs778320952
|
0.00001
|
|
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser)
|
rs587779820
|
0.00001
|
|
NM_000051.4(ATM):c.2376+3A>T
|
rs758083563
|
0.00001
|
|
NM_000051.4(ATM):c.2377-19T>G
|
rs775771700
|
0.00001
|
|
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu)
|
rs587781583
|
0.00001
|
|
NM_000051.4(ATM):c.2467-2A>C
|
rs1555082050
|
0.00001
|
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
|
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys)
|
rs1060501648
|
0.00001
|
|
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly)
|
rs587781352
|
0.00001
|
|
NM_000051.4(ATM):c.2503G>T (p.Val835Leu)
|
rs757151992
|
0.00001
|
|
NM_000051.4(ATM):c.250G>T (p.Ala84Ser)
|
rs1382256509
|
0.00001
|
|
NM_000051.4(ATM):c.2552A>G (p.Asp851Gly)
|
rs748203812
|
0.00001
|
|
NM_000051.4(ATM):c.2564T>C (p.Met855Thr)
|
rs587779824
|
0.00001
|
|
NM_000051.4(ATM):c.2578G>A (p.Asp860Asn)
|
rs587779825
|
0.00001
|
|
NM_000051.4(ATM):c.2635A>G (p.Ile879Val)
|
rs556598169
|
0.00001
|
|
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr)
|
rs746265230
|
0.00001
|
|
NM_000051.4(ATM):c.2638+3A>G
|
rs876660552
|
0.00001
|
|
NM_000051.4(ATM):c.2639-3T>C
|
rs1410247657
|
0.00001
|
|
NM_000051.4(ATM):c.2741A>G (p.Asn914Ser)
|
rs141947469
|
0.00001
|
|
NM_000051.4(ATM):c.2748G>T (p.Val916=)
|
rs1050470790
|
0.00001
|
|
NM_000051.4(ATM):c.2838+4A>G
|
rs876659907
|
0.00001
|
|
NM_000051.4(ATM):c.2879C>A (p.Pro960His)
|
rs587779828
|
0.00001
|
|
NM_000051.4(ATM):c.2894A>T (p.Asp965Val)
|
rs876658628
|
0.00001
|
|
NM_000051.4(ATM):c.2908C>T (p.Leu970=)
|
rs1060504260
|
0.00001
|
|
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr)
|
rs876660628
|
0.00001
|
|
NM_000051.4(ATM):c.3077+1G>T
|
rs192810283
|
0.00001
|
|
NM_000051.4(ATM):c.3078-1G>A
|
rs750663117
|
0.00001
|
|
NM_000051.4(ATM):c.3154-12C>A
|
rs781387283
|
0.00001
|
|
NM_000051.4(ATM):c.3190A>G (p.Met1064Val)
|
rs79431304
|
0.00001
|
|
NM_000051.4(ATM):c.3244C>T (p.His1082Tyr)
|
rs1302626569
|
0.00001
|
|
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)
|
rs189445371
|
0.00001
|
|
NM_000051.4(ATM):c.3407A>G (p.His1136Arg)
|
rs768490475
|
0.00001
|
|
NM_000051.4(ATM):c.3432G>A (p.Leu1144=)
|
rs1060501625
|
0.00001
|
|
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val)
|
rs1222634243
|
0.00001
|
|
NM_000051.4(ATM):c.3728A>G (p.Asn1243Ser)
|
rs730881363
|
0.00001
|
|
NM_000051.4(ATM):c.3993+1G>A
|
rs200196781
|
0.00001
|
|
NM_000051.4(ATM):c.400G>A (p.Gly134Ser)
|
rs2234998
|
0.00001
|
|
NM_000051.4(ATM):c.4072A>G (p.Ser1358Gly)
|
rs1176020475
|
0.00001
|
|
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly)
|
rs751169467
|
0.00001
|
|
NM_000051.4(ATM):c.4109+4T>C
|
rs754706599
|
0.00001
|
|
NM_000051.4(ATM):c.4237-8T>C
|
rs750427647
|
0.00001
|
|
NM_000051.4(ATM):c.4264A>G (p.Ile1422Val)
|
rs562445932
|
0.00001
|
|
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)
|
rs527471560
|
0.00001
|
|
NM_000051.4(ATM):c.4437-1G>C
|
rs759520465
|
0.00001
|
|
NM_000051.4(ATM):c.4501G>A (p.Val1501Ile)
|
rs370574283
|
0.00001
|
|
NM_000051.4(ATM):c.4520C>T (p.Thr1507Ile)
|
rs1064793811
|
0.00001
|
|
NM_000051.4(ATM):c.4529A>G (p.Lys1510Arg)
|
rs1208799683
|
0.00001
|
|
NM_000051.4(ATM):c.456G>T (p.Val152=)
|
rs1555059433
|
0.00001
|
|
NM_000051.4(ATM):c.4612-4T>G
|
rs569983068
|
0.00001
|
|
NM_000051.4(ATM):c.4639A>T (p.Ile1547Leu)
|
rs537377433
|
0.00001
|
|
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)
|
rs587781320
|
0.00001
|
|
NM_000051.4(ATM):c.4703A>G (p.His1568Arg)
|
rs368830730
|
0.00001
|
|
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)
|
rs587782506
|
0.00001
|
|
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)
|
rs765759912
|
0.00001
|
|
NM_000051.4(ATM):c.4903T>G (p.Ser1635Ala)
|
rs535266558
|
0.00001
|
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
|
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)
|
rs199836342
|
0.00001
|
|
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr)
|
rs756197350
|
0.00001
|
|
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser)
|
rs183531638
|
0.00001
|
|
NM_000051.4(ATM):c.5176T>G (p.Cys1726Gly)
|
rs770882126
|
0.00001
|
|
NM_000051.4(ATM):c.5178-11G>A
|
rs200876654
|
0.00001
|
|
NM_000051.4(ATM):c.526C>G (p.Leu176Val)
|
rs375798802
|
0.00001
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
0.00001
|
|
NM_000051.4(ATM):c.5319+3C>A
|
rs371640963
|
0.00001
|
|
NM_000051.4(ATM):c.5323T>G (p.Leu1775Val)
|
rs768820804
|
0.00001
|
|
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser)
|
rs730881373
|
0.00001
|
|
NM_000051.4(ATM):c.5369A>G (p.Asp1790Gly)
|
rs746945284
|
0.00001
|
|
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)
|
rs776309355
|
0.00001
|
|
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe)
|
rs769872474
|
0.00001
|
|
NM_000051.4(ATM):c.5524C>T (p.Leu1842Phe)
|
rs956546711
|
0.00001
|
|
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser)
|
rs202028401
|
0.00001
|
|
NM_000051.4(ATM):c.5639C>T (p.Thr1880Met)
|
rs587780628
|
0.00001
|
|
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)
|
rs587782236
|
0.00001
|
|
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln)
|
rs370680798
|
0.00001
|
|
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)
|
rs730881394
|
0.00001
|
|
NM_000051.4(ATM):c.5827A>G (p.Lys1943Glu)
|
rs779692309
|
0.00001
|
|
NM_000051.4(ATM):c.5918+8A>C
|
rs1401825950
|
0.00001
|
|
NM_000051.4(ATM):c.591A>T (p.Gly197=)
|
rs587780630
|
0.00001
|
|
NM_000051.4(ATM):c.5938G>A (p.Gly1980Arg)
|
rs786203765
|
0.00001
|
|
NM_000051.4(ATM):c.5G>A (p.Ser2Asn)
|
rs730881360
|
0.00001
|
|
NM_000051.4(ATM):c.6078G>A (p.Met2026Ile)
|
rs369349023
|
0.00001
|
|
NM_000051.4(ATM):c.6095+5A>G
|
rs757328753
|
0.00001
|
|
NM_000051.4(ATM):c.616A>C (p.Asn206His)
|
rs587781829
|
0.00001
|
|
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val)
|
rs755973863
|
0.00001
|
|
NM_000051.4(ATM):c.6244A>G (p.Lys2082Glu)
|
rs1239942908
|
0.00001
|
|
NM_000051.4(ATM):c.6255T>A (p.Asp2085Glu)
|
rs376898203
|
0.00001
|
|
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe)
|
rs730881380
|
0.00001
|
|
NM_000051.4(ATM):c.6347+1G>A
|
rs1057517120
|
0.00001
|
|
NM_000051.4(ATM):c.6348-3C>T
|
rs946541820
|
0.00001
|
|
NM_000051.4(ATM):c.6367A>G (p.Ser2123Gly)
|
rs876659773
|
0.00001
|
|
NM_000051.4(ATM):c.646G>T (p.Ala216Ser)
|
rs2235002
|
0.00001
|
|
NM_000051.4(ATM):c.6550A>G (p.Ser2184Gly)
|
rs764713766
|
0.00001
|
|
NM_000051.4(ATM):c.655T>C (p.Cys219Arg)
|
rs771685059
|
0.00001
|
|
NM_000051.4(ATM):c.6667A>G (p.Ile2223Val)
|
rs1028293945
|
0.00001
|
|
NM_000051.4(ATM):c.6710A>C (p.Lys2237Thr)
|
rs35118109
|
0.00001
|
|
NM_000051.4(ATM):c.672G>T (p.Lys224Asn)
|
rs769731317
|
0.00001
|
|
NM_000051.4(ATM):c.6739A>G (p.Ile2247Val)
|
rs587781521
|
0.00001
|
|
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met)
|
rs876658607
|
0.00001
|
|
NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn)
|
rs1060501602
|
0.00001
|
|
NM_000051.4(ATM):c.6778A>G (p.Ile2260Val)
|
rs1365474284
|
0.00001
|
|
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)
|
rs200940211
|
0.00001
|
|
NM_000051.4(ATM):c.69A>G (p.Arg23=)
|
rs876659304
|
0.00001
|
|
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)
|
rs1131691162
|
0.00001
|
|
NM_000051.4(ATM):c.709A>G (p.Thr237Ala)
|
rs376529329
|
0.00001
|
|
NM_000051.4(ATM):c.7122A>C (p.Glu2374Asp)
|
rs376159946
|
0.00001
|
|
NM_000051.4(ATM):c.712A>G (p.Ile238Val)
|
rs754275014
|
0.00001
|
|
NM_000051.4(ATM):c.713T>C (p.Ile238Thr)
|
rs149116878
|
0.00001
|
|
NM_000051.4(ATM):c.728T>C (p.Leu243Ser)
|
rs786202096
|
0.00001
|
|
NM_000051.4(ATM):c.7307+3_7307+4insGTTC
|
rs587782288
|
0.00001
|
|
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)
|
rs587782310
|
0.00001
|
|
NM_000051.4(ATM):c.7492T>G (p.Ser2498Ala)
|
rs754245181
|
0.00001
|
|
NM_000051.4(ATM):c.753G>A (p.Val251=)
|
rs876658806
|
0.00001
|
|
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)
|
rs775621333
|
0.00001
|
|
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)
|
rs730881361
|
0.00001
|
|
NM_000051.4(ATM):c.7825A>G (p.Ile2609Val)
|
rs779400418
|
0.00001
|
|
NM_000051.4(ATM):c.7843C>G (p.Gln2615Glu)
|
rs773159296
|
0.00001
|
|
NM_000051.4(ATM):c.7902T>G (p.Asp2634Glu)
|
rs373147078
|
0.00001
|
|
NM_000051.4(ATM):c.7928-2A>G
|
rs864622610
|
0.00001
|
|
NM_000051.4(ATM):c.7946C>T (p.Ala2649Val)
|
rs876660877
|
0.00001
|
|
NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg)
|
rs766730487
|
0.00001
|
|
NM_000051.4(ATM):c.8051A>G (p.Gln2684Arg)
|
rs1555127107
|
0.00001
|
|
NM_000051.4(ATM):c.8072G>A (p.Arg2691His)
|
rs876658385
|
0.00001
|
|
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)
|
rs748634900
|
0.00001
|
|
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg)
|
rs1064794239
|
0.00001
|
|
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp)
|
rs772992098
|
0.00001
|
|
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)
|
rs587781597
|
0.00001
|
|
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro)
|
rs587782202
|
0.00001
|
|
NM_000051.4(ATM):c.8584+2T>C
|
rs730881326
|
0.00001
|
|
NM_000051.4(ATM):c.858A>G (p.Gln286=)
|
rs145301478
|
0.00001
|
|
NM_000051.4(ATM):c.8617G>A (p.Val2873Ile)
|
rs730881327
|
0.00001
|
|
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)
|
rs551041839
|
0.00001
|
|
NM_000051.4(ATM):c.8751C>T (p.Gly2917=)
|
rs779858366
|
0.00001
|
|
NM_000051.4(ATM):c.8786+1G>T
|
rs17174393
|
0.00001
|
|
NM_000051.4(ATM):c.8850+4A>C
|
rs587782335
|
0.00001
|
|
NM_000051.4(ATM):c.8938C>A (p.Leu2980Ile)
|
rs786203721
|
0.00001
|
|
NM_000051.4(ATM):c.8944C>T (p.Pro2982Ser)
|
rs1485620194
|
0.00001
|
|
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)
|
rs147695170
|
0.00001
|
|
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile)
|
rs142322668
|
0.00001
|
|
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr)
|
rs778670498
|
0.00001
|
|
NM_000051.4(ATM):c.9071C>T (p.Thr3024Ile)
|
rs786203183
|
0.00001
|
|
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)
|
rs371767164
|
0.00001
|
|
NM_000051.4(ATM):c.931A>G (p.Ile311Val)
|
rs876658322
|
0.00001
|
|
NM_000051.4(ATM):c.967A>G (p.Ile323Val)
|
rs587781511
|
0.00001
|
|
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=)
|
rs1951990469
|
0.00001
|
|
NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu)
|
rs201855906
|
0.00001
|
|
NM_000053.4(ATP7B):c.104_105insT (p.Lys35fs)
|
rs1316032472
|
0.00001
|
|
NM_000053.4(ATP7B):c.1161G>A (p.Val387=)
|
rs748788136
|
0.00001
|
|
NM_000053.4(ATP7B):c.1186G>A (p.Glu396Lys)
|
rs763051801
|
0.00001
|
|
NM_000053.4(ATP7B):c.1285+2T>A
|
rs759749626
|
0.00001
|
|
NM_000053.4(ATP7B):c.1326G>T (p.Gly442=)
|
rs1371066375
|
0.00001
|
|
NM_000053.4(ATP7B):c.1594T>C (p.Tyr532His)
|
rs2547779039
|
0.00001
|
|
NM_000053.4(ATP7B):c.1677C>T (p.Tyr559=)
|
rs142187604
|
0.00001
|
|
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)
|
rs374172791
|
0.00001
|
|
NM_000053.4(ATP7B):c.1946+6T>C
|
rs751287778
|
0.00001
|
|
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)
|
rs372436901
|
0.00001
|
|
NM_000053.4(ATP7B):c.1989T>C (p.Pro663=)
|
rs1400193241
|
0.00001
|
|
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter)
|
rs1474837260
|
0.00001
|
|
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys)
|
rs2277447
|
0.00001
|
|
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr)
|
rs767218895
|
0.00001
|
|
NM_000053.4(ATP7B):c.2122-8T>G
|
rs193922102
|
0.00001
|
|
NM_000053.4(ATP7B):c.2125C>T (p.Leu709Phe)
|
rs769864947
|
0.00001
|
|
NM_000053.4(ATP7B):c.2182A>G (p.Asn728Asp)
|
rs1459023925
|
0.00001
|
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
|
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)
|
rs121907997
|
0.00001
|
|
NM_000053.4(ATP7B):c.2355+4A>G
|
rs776572343
|
0.00001
|
|
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)
|
rs751710854
|
0.00001
|
|
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)
|
rs533967323
|
0.00001
|
|
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=)
|
rs755237462
|
0.00001
|
|
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr)
|
rs1017756733
|
0.00001
|
|
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)
|
rs777629392
|
0.00001
|
|
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr)
|
rs1057520235
|
0.00001
|
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
|
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=)
|
rs896503662
|
0.00001
|
|
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn)
|
rs1230241288
|
0.00001
|
|
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)
|
rs28942076
|
0.00001
|
|
NM_000053.4(ATP7B):c.2869C>T (p.Pro957Ser)
|
rs759416152
|
0.00001
|
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
|
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)
|
rs201038679
|
0.00001
|
|
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser)
|
rs750891085
|
0.00001
|
|
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=)
|
rs761888880
|
0.00001
|
|
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=)
|
rs1192564410
|
0.00001
|
|
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)
|
rs1412025509
|
0.00001
|
|
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val)
|
rs1206016866
|
0.00001
|
|
NM_000053.4(ATP7B):c.3243+1G>A
|
rs748819198
|
0.00001
|
|
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)
|
rs753250853
|
0.00001
|
|
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)
|
rs761632029
|
0.00001
|
|
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter)
|
rs774221179
|
0.00001
|
|
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=)
|
rs587783314
|
0.00001
|
|
NM_000053.4(ATP7B):c.3555C>T (p.Asp1185=)
|
rs756751716
|
0.00001
|
|
NM_000053.4(ATP7B):c.3557-8C>T
|
rs765668065
|
0.00001
|
|
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)
|
rs374628199
|
0.00001
|
|
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)
|
rs375007352
|
0.00001
|
|
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr)
|
rs548512104
|
0.00001
|
|
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser)
|
rs1131691741
|
0.00001
|
|
NM_000053.4(ATP7B):c.4021+3A>G
|
rs565970531
|
0.00001
|
|
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)
|
rs779494870
|
0.00001
|
|
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)
|
rs193922110
|
0.00001
|
|
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile)
|
rs759551693
|
0.00001
|
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
|
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu)
|
rs756718353
|
0.00001
|
|
NM_000053.4(ATP7B):c.609C>T (p.Asp203=)
|
rs781140058
|
0.00001
|
|
NM_000053.4(ATP7B):c.695C>T (p.Pro232Leu)
|
rs777932681
|
0.00001
|
|
NM_000059.4(BRCA2):c.10024G>A (p.Glu3342Lys)
|
rs28897761
|
0.00001
|
|
NM_000059.4(BRCA2):c.1002T>G (p.His334Gln)
|
rs544942885
|
0.00001
|
|
NM_000059.4(BRCA2):c.1006G>A (p.Ala336Thr)
|
rs587782100
|
0.00001
|
|
NM_000059.4(BRCA2):c.10070C>T (p.Thr3357Ile)
|
rs80358388
|
0.00001
|
|
NM_000059.4(BRCA2):c.10085T>C (p.Phe3362Ser)
|
rs756978580
|
0.00001
|
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
|
NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala)
|
rs80358395
|
0.00001
|
|
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)
|
rs80358396
|
0.00001
|
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
rs397507568
|
0.00001
|
|
NM_000059.4(BRCA2):c.10232C>G (p.Thr3411Arg)
|
rs864622402
|
0.00001
|
|
NM_000059.4(BRCA2):c.1054T>C (p.Tyr352His)
|
rs542343726
|
0.00001
|
|
NM_000059.4(BRCA2):c.107C>T (p.Ser36Phe)
|
rs730881554
|
0.00001
|
|
NM_000059.4(BRCA2):c.1094C>T (p.Pro365Leu)
|
rs730881578
|
0.00001
|
|
NM_000059.4(BRCA2):c.1097T>C (p.Leu366Ser)
|
rs886040345
|
0.00001
|
|
NM_000059.4(BRCA2):c.1124C>T (p.Pro375Leu)
|
rs80358409
|
0.00001
|
|
NM_000059.4(BRCA2):c.1127T>C (p.Phe376Ser)
|
rs80358410
|
0.00001
|
|
NM_000059.4(BRCA2):c.1131G>C (p.Glu377Asp)
|
rs777845659
|
0.00001
|
|
NM_000059.4(BRCA2):c.1141G>A (p.Asp381Asn)
|
rs398122723
|
0.00001
|
|
NM_000059.4(BRCA2):c.1159G>T (p.Val387Phe)
|
rs869320791
|
0.00001
|
|
NM_000059.4(BRCA2):c.1160T>C (p.Val387Ala)
|
rs373945846
|
0.00001
|
|
NM_000059.4(BRCA2):c.1185G>T (p.Trp395Cys)
|
rs886039315
|
0.00001
|
|
NM_000059.4(BRCA2):c.1211A>T (p.Asn404Ile)
|
rs80358414
|
0.00001
|
|
NM_000059.4(BRCA2):c.1217C>G (p.Ala406Gly)
|
rs1005568368
|
0.00001
|
|
NM_000059.4(BRCA2):c.1225G>A (p.Glu409Lys)
|
rs80358416
|
0.00001
|
|
NM_000059.4(BRCA2):c.1232T>C (p.Ile411Thr)
|
rs79597821
|
0.00001
|
|
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)
|
rs80358417
|
0.00001
|
|
NM_000059.4(BRCA2):c.1246A>G (p.Ile416Val)
|
rs786203710
|
0.00001
|
|
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)
|
rs80358418
|
0.00001
|
|
NM_000059.4(BRCA2):c.1255T>C (p.Cys419Arg)
|
rs876658829
|
0.00001
|
|
NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val)
|
rs80358420
|
0.00001
|
|
NM_000059.4(BRCA2):c.1329G>T (p.Glu443Asp)
|
rs73169186
|
0.00001
|
|
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys)
|
rs80358422
|
0.00001
|
|
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)
|
rs80358423
|
0.00001
|
|
NM_000059.4(BRCA2):c.1381G>A (p.Glu461Lys)
|
rs587782159
|
0.00001
|
|
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys)
|
rs80358431
|
0.00001
|
|
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)
|
rs760559435
|
0.00001
|
|
NM_000059.4(BRCA2):c.1447G>A (p.Ala483Thr)
|
rs80358432
|
0.00001
|
|
NM_000059.4(BRCA2):c.1462A>G (p.Ile488Val)
|
rs864622352
|
0.00001
|
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
|
NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr)
|
rs80358437
|
0.00001
|
|
NM_000059.4(BRCA2):c.1494T>G (p.Phe498Leu)
|
rs900882465
|
0.00001
|
|
NM_000059.4(BRCA2):c.1574C>T (p.Thr525Ile)
|
rs397507271
|
0.00001
|
|
NM_000059.4(BRCA2):c.1579C>T (p.Pro527Ser)
|
rs758025325
|
0.00001
|
|
NM_000059.4(BRCA2):c.1583A>G (p.Asn528Ser)
|
rs1060502393
|
0.00001
|
|
NM_000059.4(BRCA2):c.1592A>G (p.Lys531Arg)
|
rs876658771
|
0.00001
|
|
NM_000059.4(BRCA2):c.1600G>A (p.Glu534Lys)
|
rs276174810
|
0.00001
|
|
NM_000059.4(BRCA2):c.1624A>G (p.Ile542Val)
|
rs730881511
|
0.00001
|
|
NM_000059.4(BRCA2):c.1669T>A (p.Leu557Ile)
|
rs786202150
|
0.00001
|
|
NM_000059.4(BRCA2):c.1705C>A (p.Gln569Lys)
|
rs397507274
|
0.00001
|
|
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser)
|
rs373400041
|
0.00001
|
|
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys)
|
rs80358459
|
0.00001
|
|
NM_000059.4(BRCA2):c.1780A>T (p.Ile594Leu)
|
rs431825287
|
0.00001
|
|
NM_000059.4(BRCA2):c.1805G>T (p.Gly602Val)
|
rs398122732
|
0.00001
|
|
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu)
|
rs80358467
|
0.00001
|
|
NM_000059.4(BRCA2):c.1826A>G (p.Gln609Arg)
|
rs80358473
|
0.00001
|
|
NM_000059.4(BRCA2):c.1860T>G (p.Phe620Leu)
|
rs1064793402
|
0.00001
|
|
NM_000059.4(BRCA2):c.1888A>G (p.Thr630Ala)
|
rs1335307553
|
0.00001
|
|
NM_000059.4(BRCA2):c.1903G>C (p.Asp635His)
|
rs1566224604
|
0.00001
|
|
NM_000059.4(BRCA2):c.1949A>G (p.Asn650Ser)
|
rs773619645
|
0.00001
|
|
NM_000059.4(BRCA2):c.1955C>G (p.Ser652Cys)
|
rs1593895864
|
0.00001
|
|
NM_000059.4(BRCA2):c.1966A>G (p.Thr656Ala)
|
rs398122736
|
0.00001
|
|
NM_000059.4(BRCA2):c.1988T>C (p.Phe663Ser)
|
rs552526845
|
0.00001
|
|
NM_000059.4(BRCA2):c.2014A>G (p.Arg672Gly)
|
rs587781647
|
0.00001
|
|
NM_000059.4(BRCA2):c.2026T>C (p.Cys676Arg)
|
rs397507280
|
0.00001
|
|
NM_000059.4(BRCA2):c.2072C>T (p.Ala691Val)
|
rs868546240
|
0.00001
|
|
NM_000059.4(BRCA2):c.2078G>A (p.Cys693Tyr)
|
rs771226774
|
0.00001
|
|
NM_000059.4(BRCA2):c.209C>T (p.Ser70Phe)
|
rs376931156
|
0.00001
|
|
NM_000059.4(BRCA2):c.2116G>A (p.Ala706Thr)
|
rs1453451895
|
0.00001
|
|
NM_000059.4(BRCA2):c.2119G>A (p.Asp707Asn)
|
rs80358487
|
0.00001
|
|
NM_000059.4(BRCA2):c.2148G>C (p.Gln716His)
|
rs876659550
|
0.00001
|
|
NM_000059.4(BRCA2):c.2225A>G (p.Gln742Arg)
|
rs1282599125
|
0.00001
|
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
rs397507282
|
0.00001
|
|
NM_000059.4(BRCA2):c.2252C>T (p.Thr751Ile)
|
rs398122743
|
0.00001
|
|
NM_000059.4(BRCA2):c.2270A>G (p.Lys757Arg)
|
rs763035556
|
0.00001
|
|
NM_000059.4(BRCA2):c.2276T>C (p.Leu759Pro)
|
rs1555282592
|
0.00001
|
|
NM_000059.4(BRCA2):c.2287C>G (p.His763Asp)
|
rs863224585
|
0.00001
|
|
NM_000059.4(BRCA2):c.2290G>C (p.Glu764Gln)
|
rs587782158
|
0.00001
|
|
NM_000059.4(BRCA2):c.2330A>G (p.Asp777Gly)
|
rs780489283
|
0.00001
|
|
NM_000059.4(BRCA2):c.2332G>A (p.Val778Ile)
|
rs587779360
|
0.00001
|
|
NM_000059.4(BRCA2):c.2348T>G (p.Val783Gly)
|
rs768143929
|
0.00001
|
|
NM_000059.4(BRCA2):c.2353A>G (p.Ile785Val)
|
rs747748537
|
0.00001
|
|
NM_000059.4(BRCA2):c.2354T>C (p.Ile785Thr)
|
rs771599029
|
0.00001
|
|
NM_000059.4(BRCA2):c.2368G>A (p.Glu790Lys)
|
rs398122746
|
0.00001
|
|
NM_000059.4(BRCA2):c.2383T>G (p.Ser795Ala)
|
rs878853563
|
0.00001
|
|
NM_000059.4(BRCA2):c.2401A>G (p.Asn801Asp)
|
rs765279896
|
0.00001
|
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
|
NM_000059.4(BRCA2):c.2417A>G (p.Asp806Gly)
|
rs80358506
|
0.00001
|
|
NM_000059.4(BRCA2):c.2443A>G (p.Met815Val)
|
rs786203814
|
0.00001
|
|
NM_000059.4(BRCA2):c.2446G>A (p.Glu816Lys)
|
rs730881514
|
0.00001
|
|
NM_000059.4(BRCA2):c.2452A>C (p.Asn818His)
|
rs750667529
|
0.00001
|
|
NM_000059.4(BRCA2):c.2461G>A (p.Val821Ile)
|
rs756411508
|
0.00001
|
|
NM_000059.4(BRCA2):c.2471T>C (p.Leu824Ser)
|
rs397507631
|
0.00001
|
|
NM_000059.4(BRCA2):c.2482T>C (p.Tyr828His)
|
rs1060502466
|
0.00001
|
|
NM_000059.4(BRCA2):c.2485A>G (p.Lys829Glu)
|
rs1270048702
|
0.00001
|
|
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile)
|
rs397507287
|
0.00001
|
|
NM_000059.4(BRCA2):c.2492T>C (p.Val831Ala)
|
rs779520270
|
0.00001
|
|
NM_000059.4(BRCA2):c.2504C>T (p.Pro835Leu)
|
rs1593897100
|
0.00001
|
|
NM_000059.4(BRCA2):c.2524G>C (p.Val842Leu)
|
rs587782454
|
0.00001
|
|
NM_000059.4(BRCA2):c.2528C>T (p.Ala843Val)
|
rs80358517
|
0.00001
|
|
NM_000059.4(BRCA2):c.2554A>C (p.Asn852His)
|
rs775531301
|
0.00001
|
|
NM_000059.4(BRCA2):c.2627A>G (p.Asn876Ser)
|
rs997313713
|
0.00001
|
|
NM_000059.4(BRCA2):c.2750T>C (p.Val917Ala)
|
rs2072463944
|
0.00001
|
|
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val)
|
rs786201837
|
0.00001
|
|
NM_000059.4(BRCA2):c.2789A>G (p.Tyr930Cys)
|
rs431825299
|
0.00001
|
|
NM_000059.4(BRCA2):c.2817C>T (p.Thr939=)
|
rs367921107
|
0.00001
|
|
NM_000059.4(BRCA2):c.2821G>A (p.Val941Met)
|
rs863224586
|
0.00001
|
|
NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly)
|
rs55972907
|
0.00001
|
|
NM_000059.4(BRCA2):c.2838T>G (p.Asp946Glu)
|
rs149753706
|
0.00001
|
|
NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp)
|
rs80358535
|
0.00001
|
|
NM_000059.4(BRCA2):c.2878A>G (p.Lys960Glu)
|
rs876659267
|
0.00001
|
|
NM_000059.4(BRCA2):c.2881C>G (p.Gln961Glu)
|
rs80358538
|
0.00001
|
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
|
NM_000059.4(BRCA2):c.2915A>G (p.Lys972Arg)
|
rs1064794885
|
0.00001
|
|
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)
|
rs397507296
|
0.00001
|
|
NM_000059.4(BRCA2):c.2933A>G (p.Asn978Ser)
|
rs775890004
|
0.00001
|
|
NM_000059.4(BRCA2):c.2980G>A (p.Ala994Thr)
|
rs587782223
|
0.00001
|
|
NM_000059.4(BRCA2):c.2981C>T (p.Ala994Val)
|
rs398122758
|
0.00001
|
|
NM_000059.4(BRCA2):c.3005A>C (p.Asn1002Thr)
|
rs730881518
|
0.00001
|
|
NM_000059.4(BRCA2):c.3007C>G (p.His1003Asp)
|
rs878853565
|
0.00001
|
|
NM_000059.4(BRCA2):c.3068A>C (p.Asn1023Thr)
|
rs776196396
|
0.00001
|
|
NM_000059.4(BRCA2):c.3069C>A (p.Asn1023Lys)
|
rs759181823
|
0.00001
|
|
NM_000059.4(BRCA2):c.3088T>G (p.Phe1030Val)
|
rs80358554
|
0.00001
|
|
NM_000059.4(BRCA2):c.3090C>G (p.Phe1030Leu)
|
rs756152752
|
0.00001
|
|
NM_000059.4(BRCA2):c.3098A>T (p.Asp1033Val)
|
rs141702094
|
0.00001
|
|
NM_000059.4(BRCA2):c.3100A>G (p.Ile1034Val)
|
rs755227053
|
0.00001
|
|
NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr)
|
rs545974734
|
0.00001
|
|
NM_000059.4(BRCA2):c.3182A>G (p.Lys1061Arg)
|
rs776099423
|
0.00001
|
|
NM_000059.4(BRCA2):c.3188A>G (p.Gln1063Arg)
|
rs775030825
|
0.00001
|
|
NM_000059.4(BRCA2):c.3194T>C (p.Ile1065Thr)
|
rs431825303
|
0.00001
|
|
NM_000059.4(BRCA2):c.3197A>G (p.Asn1066Ser)
|
rs762752733
|
0.00001
|
|
NM_000059.4(BRCA2):c.3206C>T (p.Ser1069Phe)
|
rs80358563
|
0.00001
|
|
NM_000059.4(BRCA2):c.3211C>T (p.His1071Tyr)
|
rs80358564
|
0.00001
|
|
NM_000059.4(BRCA2):c.3220A>T (p.Ser1074Cys)
|
rs145605603
|
0.00001
|
|
NM_000059.4(BRCA2):c.3227T>C (p.Val1076Ala)
|
rs1060502498
|
0.00001
|
|
NM_000059.4(BRCA2):c.3245A>G (p.Lys1082Arg)
|
rs80358569
|
0.00001
|
|
NM_000059.4(BRCA2):c.3259A>T (p.Thr1087Ser)
|
rs775142613
|
0.00001
|
|
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro)
|
rs80358577
|
0.00001
|
|
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val)
|
rs41293479
|
0.00001
|
|
NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp)
|
rs369294255
|
0.00001
|
|
NM_000059.4(BRCA2):c.3340C>T (p.Leu1114Phe)
|
rs1468014859
|
0.00001
|
|
NM_000059.4(BRCA2):c.3344C>G (p.Ser1115Cys)
|
rs879255448
|
0.00001
|
|
NM_000059.4(BRCA2):c.3404A>G (p.Tyr1135Cys)
|
rs2072479515
|
0.00001
|
|
NM_000059.4(BRCA2):c.3407T>C (p.Ile1136Thr)
|
rs398122765
|
0.00001
|
|
NM_000059.4(BRCA2):c.3414G>C (p.Gln1138His)
|
rs398122766
|
0.00001
|
|
NM_000059.4(BRCA2):c.3427G>A (p.Glu1143Lys)
|
rs1316176181
|
0.00001
|
|
NM_000059.4(BRCA2):c.3431T>G (p.Val1144Gly)
|
rs80358587
|
0.00001
|
|
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu)
|
rs56242644
|
0.00001
|
|
NM_000059.4(BRCA2):c.3443A>G (p.Gln1148Arg)
|
rs200808363
|
0.00001
|
|
NM_000059.4(BRCA2):c.3451A>G (p.Ile1151Val)
|
rs80358591
|
0.00001
|
|
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met)
|
rs80358592
|
0.00001
|
|
NM_000059.4(BRCA2):c.3463A>G (p.Thr1155Ala)
|
rs1555283257
|
0.00001
|
|
NM_000059.4(BRCA2):c.3484G>A (p.Ala1162Thr)
|
rs878853570
|
0.00001
|
|
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)
|
rs80358599
|
0.00001
|
|
NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe)
|
rs431825308
|
0.00001
|
|
NM_000059.4(BRCA2):c.3526G>A (p.Val1176Ile)
|
rs80358602
|
0.00001
|
|
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val)
|
rs202230438
|
0.00001
|
|
NM_000059.4(BRCA2):c.3578C>T (p.Ala1193Val)
|
rs431825310
|
0.00001
|
|
NM_000059.4(BRCA2):c.3620A>G (p.Tyr1207Cys)
|
rs397507310
|
0.00001
|
|
NM_000059.4(BRCA2):c.3628G>A (p.Asp1210Asn)
|
rs774392592
|
0.00001
|
|
NM_000059.4(BRCA2):c.3635A>T (p.Asn1212Ile)
|
rs80358609
|
0.00001
|
|
NM_000059.4(BRCA2):c.3644G>A (p.Gly1215Glu)
|
rs773442698
|
0.00001
|
|
NM_000059.4(BRCA2):c.3655T>G (p.Phe1219Val)
|
rs80358610
|
0.00001
|
|
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro)
|
rs80358611
|
0.00001
|
|
NM_000059.4(BRCA2):c.3667C>T (p.His1223Tyr)
|
rs786203756
|
0.00001
|
|
NM_000059.4(BRCA2):c.3671G>T (p.Gly1224Val)
|
rs587782670
|
0.00001
|
|
NM_000059.4(BRCA2):c.3698C>T (p.Ala1233Val)
|
rs745700206
|
0.00001
|
|
NM_000059.4(BRCA2):c.3709G>C (p.Ala1237Pro)
|
rs398122770
|
0.00001
|
|
NM_000059.4(BRCA2):c.3731T>C (p.Ile1244Thr)
|
rs730881526
|
0.00001
|
|
NM_000059.4(BRCA2):c.3745G>A (p.Glu1249Lys)
|
rs1348655194
|
0.00001
|
|
NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu)
|
rs80358616
|
0.00001
|
|
NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro)
|
rs80358618
|
0.00001
|
|
NM_000059.4(BRCA2):c.3770C>T (p.Pro1257Leu)
|
rs587782581
|
0.00001
|
|
NM_000059.4(BRCA2):c.3794G>T (p.Cys1265Phe)
|
rs397507315
|
0.00001
|
|
NM_000059.4(BRCA2):c.3802T>A (p.Ser1268Thr)
|
rs751092504
|
0.00001
|
|
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)
|
rs80358624
|
0.00001
|
|
NM_000059.4(BRCA2):c.3826G>A (p.Glu1276Lys)
|
rs878853575
|
0.00001
|
|
NM_000059.4(BRCA2):c.3852T>G (p.Ser1284Arg)
|
rs777895333
|
0.00001
|
|
NM_000059.4(BRCA2):c.3893T>C (p.Ile1298Thr)
|
rs80358633
|
0.00001
|
|
NM_000059.4(BRCA2):c.3901A>T (p.Thr1301Ser)
|
rs779899032
|
0.00001
|
|
NM_000059.4(BRCA2):c.3904A>G (p.Thr1302Ala)
|
rs543339423
|
0.00001
|
|
NM_000059.4(BRCA2):c.3905C>T (p.Thr1302Ile)
|
rs80358634
|
0.00001
|
|
NM_000059.4(BRCA2):c.3941A>G (p.Lys1314Arg)
|
rs1344698119
|
0.00001
|
|
NM_000059.4(BRCA2):c.3966C>G (p.Asn1322Lys)
|
rs80358647
|
0.00001
|
|
NM_000059.4(BRCA2):c.3989A>G (p.Asn1330Ser)
|
rs1057520792
|
0.00001
|
|
NM_000059.4(BRCA2):c.4046T>C (p.Ile1349Thr)
|
rs80358654
|
0.00001
|
|
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr)
|
rs80358655
|
0.00001
|
|
NM_000059.4(BRCA2):c.4067T>C (p.Leu1356Ser)
|
rs876660967
|
0.00001
|
|
NM_000059.4(BRCA2):c.4105T>C (p.Ser1369Pro)
|
rs138567364
|
0.00001
|
|
NM_000059.4(BRCA2):c.4159T>A (p.Leu1387Ile)
|
rs431825317
|
0.00001
|
|
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser)
|
rs431825318
|
0.00001
|
|
NM_000059.4(BRCA2):c.4223A>G (p.Gln1408Arg)
|
rs762778002
|
0.00001
|
|
NM_000059.4(BRCA2):c.4244A>G (p.Glu1415Gly)
|
rs1060502399
|
0.00001
|
|
NM_000059.4(BRCA2):c.4261T>C (p.Phe1421Leu)
|
rs878853582
|
0.00001
|
|
NM_000059.4(BRCA2):c.4277C>T (p.Thr1426Ile)
|
rs748591104
|
0.00001
|
|
NM_000059.4(BRCA2):c.428C>G (p.Pro143Arg)
|
rs587782795
|
0.00001
|
|
NM_000059.4(BRCA2):c.4315G>A (p.Ala1439Thr)
|
rs80358666
|
0.00001
|
|
NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp)
|
rs80358667
|
0.00001
|
|
NM_000059.4(BRCA2):c.4343A>T (p.Asn1448Ile)
|
rs762841458
|
0.00001
|
|
NM_000059.4(BRCA2):c.4354C>G (p.Gln1452Glu)
|
rs431825319
|
0.00001
|
|
NM_000059.4(BRCA2):c.4372C>T (p.His1458Tyr)
|
rs80358672
|
0.00001
|
|
NM_000059.4(BRCA2):c.4388A>G (p.Asn1463Ser)
|
rs1305070555
|
0.00001
|
|
NM_000059.4(BRCA2):c.4433T>C (p.Leu1478Pro)
|
rs1382689372
|
0.00001
|
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
|
NM_000059.4(BRCA2):c.4480A>G (p.Ser1494Gly)
|
rs1593902515
|
0.00001
|
|
NM_000059.4(BRCA2):c.449A>G (p.His150Arg)
|
rs397507722
|
0.00001
|
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
|
NM_000059.4(BRCA2):c.4567G>C (p.Gly1523Arg)
|
rs587781418
|
0.00001
|
|
NM_000059.4(BRCA2):c.4574A>C (p.His1525Pro)
|
rs397507336
|
0.00001
|
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
|
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)
|
rs377639990
|
0.00001
|
|
NM_000059.4(BRCA2):c.4652A>G (p.Gln1551Arg)
|
rs1391223943
|
0.00001
|
|
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg)
|
rs276174845
|
0.00001
|
|
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)
|
rs80358698
|
0.00001
|
|
NM_000059.4(BRCA2):c.4672A>C (p.Ser1558Arg)
|
rs587782822
|
0.00001
|
|
NM_000059.4(BRCA2):c.4685A>C (p.Gln1562Pro)
|
rs544688816
|
0.00001
|
|
NM_000059.4(BRCA2):c.4695G>T (p.Lys1565Asn)
|
rs587782522
|
0.00001
|
|
NM_000059.4(BRCA2):c.4703A>G (p.Lys1568Arg)
|
rs80358699
|
0.00001
|
|
NM_000059.4(BRCA2):c.4741G>A (p.Glu1581Lys)
|
rs368952892
|
0.00001
|
|
NM_000059.4(BRCA2):c.4747A>T (p.Ile1583Phe)
|
rs56072130
|
0.00001
|
|
NM_000059.4(BRCA2):c.4759G>A (p.Ala1587Thr)
|
rs56137239
|
0.00001
|
|
NM_000059.4(BRCA2):c.4772G>A (p.Cys1591Tyr)
|
rs1555283933
|
0.00001
|
|
NM_000059.4(BRCA2):c.4784A>C (p.Gln1595Pro)
|
rs786201184
|
0.00001
|
|
NM_000059.4(BRCA2):c.4796A>G (p.Asn1599Ser)
|
rs149759218
|
0.00001
|
|
NM_000059.4(BRCA2):c.4838C>T (p.Pro1613Leu)
|
rs1360725610
|
0.00001
|
|
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn)
|
rs397507341
|
0.00001
|
|
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu)
|
rs80358708
|
0.00001
|
|
NM_000059.4(BRCA2):c.4861T>G (p.Cys1621Gly)
|
rs1060502419
|
0.00001
|
|
NM_000059.4(BRCA2):c.4873G>A (p.Glu1625Lys)
|
rs587782754
|
0.00001
|
|
NM_000059.4(BRCA2):c.4885A>G (p.Thr1629Ala)
|
rs879255455
|
0.00001
|
|
NM_000059.4(BRCA2):c.4898T>C (p.Ile1633Thr)
|
rs80358714
|
0.00001
|
|
NM_000059.4(BRCA2):c.4913A>C (p.Lys1638Thr)
|
rs771425987
|
0.00001
|
|
NM_000059.4(BRCA2):c.4918C>T (p.His1640Tyr)
|
rs765892492
|
0.00001
|
|
NM_000059.4(BRCA2):c.4930G>C (p.Glu1644Gln)
|
rs1555283989
|
0.00001
|
|
NM_000059.4(BRCA2):c.4952C>T (p.Pro1651Leu)
|
rs565268514
|
0.00001
|
|
NM_000059.4(BRCA2):c.4981T>C (p.Tyr1661His)
|
rs730881535
|
0.00001
|
|
NM_000059.4(BRCA2):c.4987G>C (p.Val1663Leu)
|
rs587781763
|
0.00001
|
|
NM_000059.4(BRCA2):c.5030G>T (p.Arg1677Ile)
|
rs375304428
|
0.00001
|
|
NM_000059.4(BRCA2):c.5045G>A (p.Ser1682Asn)
|
rs41293493
|
0.00001
|
|
NM_000059.4(BRCA2):c.5081G>C (p.Arg1694Thr)
|
rs753721331
|
0.00001
|
|
NM_000059.4(BRCA2):c.5104C>T (p.Pro1702Ser)
|
rs80358734
|
0.00001
|
|
NM_000059.4(BRCA2):c.5110A>G (p.Arg1704Gly)
|
rs1064795652
|
0.00001
|
|
NM_000059.4(BRCA2):c.5115A>G (p.Ile1705Met)
|
rs878853588
|
0.00001
|
|
NM_000059.4(BRCA2):c.5120C>T (p.Thr1707Ile)
|
rs786202354
|
0.00001
|
|
NM_000059.4(BRCA2):c.5153A>G (p.Asn1718Ser)
|
rs80358739
|
0.00001
|
|
NM_000059.4(BRCA2):c.5165G>T (p.Ser1722Ile)
|
rs773707172
|
0.00001
|
|
NM_000059.4(BRCA2):c.517-2A>G
|
rs81002858
|
0.00001
|
|
NM_000059.4(BRCA2):c.5186A>C (p.Lys1729Thr)
|
rs772860507
|
0.00001
|
|
NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys)
|
rs786202543
|
0.00001
|
|
NM_000059.4(BRCA2):c.5201A>T (p.Glu1734Val)
|
rs1200008651
|
0.00001
|
|
NM_000059.4(BRCA2):c.5207A>G (p.Gln1736Arg)
|
rs1183489363
|
0.00001
|
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
rs750671399
|
0.00001
|
|
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)
|
rs756463217
|
0.00001
|
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
|
NM_000059.4(BRCA2):c.5245T>C (p.Tyr1749His)
|
rs876658731
|
0.00001
|
|
NM_000059.4(BRCA2):c.5249C>T (p.Ser1750Phe)
|
rs80358748
|
0.00001
|
|
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)
|
rs28897735
|
0.00001
|
|
NM_000059.4(BRCA2):c.5282G>A (p.Gly1761Glu)
|
rs80358752
|
0.00001
|
|
NM_000059.4(BRCA2):c.5284T>G (p.Tyr1762Asp)
|
rs1192019733
|
0.00001
|
|
NM_000059.4(BRCA2):c.5321C>T (p.Pro1774Leu)
|
rs786203835
|
0.00001
|
|
NM_000059.4(BRCA2):c.5350A>C (p.Asn1784His)
|
rs1308950771
|
0.00001
|
|
NM_000059.4(BRCA2):c.5373A>G (p.Ile1791Met)
|
rs1060502406
|
0.00001
|
|
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly)
|
rs80358760
|
0.00001
|
|
NM_000059.4(BRCA2):c.5396C>T (p.Ala1799Val)
|
rs770450108
|
0.00001
|
|
NM_000059.4(BRCA2):c.5405A>G (p.Gln1802Arg)
|
rs80358764
|
0.00001
|
|
NM_000059.4(BRCA2):c.5406A>C (p.Gln1802His)
|
rs139302211
|
0.00001
|
|
NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr)
|
rs397507350
|
0.00001
|
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
rs80358767
|
0.00001
|
|
NM_000059.4(BRCA2):c.5450C>G (p.Ser1817Cys)
|
rs759741090
|
0.00001
|
|
NM_000059.4(BRCA2):c.5479A>G (p.Ile1827Val)
|
rs80358770
|
0.00001
|
|
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe)
|
rs779967765
|
0.00001
|
|
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr)
|
rs587782007
|
0.00001
|
|
NM_000059.4(BRCA2):c.5500A>G (p.Ser1834Gly)
|
rs760602053
|
0.00001
|
|
NM_000059.4(BRCA2):c.5525C>T (p.Pro1842Leu)
|
rs1331207836
|
0.00001
|
|
NM_000059.4(BRCA2):c.5535G>C (p.Arg1845Ser)
|
rs786201997
|
0.00001
|
|
NM_000059.4(BRCA2):c.5536A>G (p.Ile1846Val)
|
rs587782375
|
0.00001
|
|
NM_000059.4(BRCA2):c.5546G>A (p.Gly1849Asp)
|
rs764527357
|
0.00001
|
|
NM_000059.4(BRCA2):c.5590G>A (p.Asp1864Asn)
|
rs587781536
|
0.00001
|
|
NM_000059.4(BRCA2):c.5596T>C (p.Phe1866Leu)
|
rs80358779
|
0.00001
|
|
NM_000059.4(BRCA2):c.5624A>C (p.Lys1875Thr)
|
rs587782583
|
0.00001
|
|
NM_000059.4(BRCA2):c.5625G>T (p.Lys1875Asn)
|
rs1316343192
|
0.00001
|
|
NM_000059.4(BRCA2):c.5632A>G (p.Asn1878Asp)
|
rs397507358
|
0.00001
|
|
NM_000059.4(BRCA2):c.5663A>G (p.Lys1888Arg)
|
rs80358791
|
0.00001
|
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
rs397507360
|
0.00001
|
|
NM_000059.4(BRCA2):c.5677T>G (p.Cys1893Gly)
|
rs786203261
|
0.00001
|
|
NM_000059.4(BRCA2):c.5702A>T (p.Glu1901Val)
|
rs773600818
|
0.00001
|
|
NM_000059.4(BRCA2):c.5714A>G (p.His1905Arg)
|
rs80358796
|
0.00001
|
|
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro)
|
rs80358797
|
0.00001
|
|
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile)
|
rs276174863
|
0.00001
|
|
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg)
|
rs80358804
|
0.00001
|
|
NM_000059.4(BRCA2):c.5770A>T (p.Ile1924Phe)
|
rs779020831
|
0.00001
|
|
NM_000059.4(BRCA2):c.5782G>A (p.Glu1928Lys)
|
rs56253082
|
0.00001
|
|
NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile)
|
rs759138390
|
0.00001
|
|
NM_000059.4(BRCA2):c.5870T>C (p.Ile1957Thr)
|
rs587782320
|
0.00001
|
|
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)
|
rs80358820
|
0.00001
|
|
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr)
|
rs1060502377
|
0.00001
|
|
NM_000059.4(BRCA2):c.5903C>T (p.Ser1968Leu)
|
rs587782597
|
0.00001
|
|
NM_000059.4(BRCA2):c.5960A>G (p.Gln1987Arg)
|
rs1364714267
|
0.00001
|
|
NM_000059.4(BRCA2):c.5970T>G (p.Asp1990Glu)
|
rs1064794160
|
0.00001
|
|
NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile)
|
rs587781402
|
0.00001
|
|
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr)
|
rs144784912
|
0.00001
|
|
NM_000059.4(BRCA2):c.6037A>G (p.Lys2013Glu)
|
rs80358840
|
0.00001
|
|
NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn)
|
rs398122547
|
0.00001
|
|
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)
|
rs80358849
|
0.00001
|
|
NM_000059.4(BRCA2):c.6107C>G (p.Pro2036Arg)
|
rs1455395828
|
0.00001
|
|
NM_000059.4(BRCA2):c.6115T>A (p.Leu2039Ile)
|
rs370026879
|
0.00001
|
|
NM_000059.4(BRCA2):c.6117A>C (p.Leu2039Phe)
|
rs1566233950
|
0.00001
|
|
NM_000059.4(BRCA2):c.6118A>G (p.Ile2040Val)
|
rs80358850
|
0.00001
|
|
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)
|
rs56191579
|
0.00001
|
|
NM_000059.4(BRCA2):c.6212G>C (p.Ser2071Thr)
|
rs80358861
|
0.00001
|
|
NM_000059.4(BRCA2):c.6233G>T (p.Gly2078Val)
|
rs769883812
|
0.00001
|
|
NM_000059.4(BRCA2):c.6263C>T (p.Thr2088Ile)
|
rs767567428
|
0.00001
|
|
NM_000059.4(BRCA2):c.6268C>T (p.His2090Tyr)
|
rs1405631299
|
0.00001
|
|
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys)
|
rs397507838
|
0.00001
|
|
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg)
|
rs587781396
|
0.00001
|
|
NM_000059.4(BRCA2):c.6289A>G (p.Thr2097Ala)
|
rs587781965
|
0.00001
|
|
NM_000059.4(BRCA2):c.6301A>C (p.Asn2101His)
|
rs1430866716
|
0.00001
|
|
NM_000059.4(BRCA2):c.6383A>C (p.Lys2128Thr)
|
rs398122554
|
0.00001
|
|
NM_000059.4(BRCA2):c.6386A>G (p.Glu2129Gly)
|
rs1566234469
|
0.00001
|
|
NM_000059.4(BRCA2):c.6388T>C (p.Phe2130Leu)
|
rs929941099
|
0.00001
|
|
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del)
|
rs80359581
|
0.00001
|
|
NM_000059.4(BRCA2):c.6401A>G (p.Asn2134Ser)
|
rs2072554340
|
0.00001
|
|
NM_000059.4(BRCA2):c.6403A>C (p.Asn2135His)
|
rs80358876
|
0.00001
|
|
NM_000059.4(BRCA2):c.6434A>G (p.Asn2145Ser)
|
rs80358878
|
0.00001
|
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
|
NM_000059.4(BRCA2):c.6461A>C (p.Tyr2154Ser)
|
rs80358882
|
0.00001
|
|
NM_000059.4(BRCA2):c.6477A>G (p.Gln2159=)
|
rs1566234713
|
0.00001
|
|
NM_000059.4(BRCA2):c.6485A>G (p.Lys2162Arg)
|
rs11571660
|
0.00001
|
|
NM_000059.4(BRCA2):c.6496G>T (p.Val2166Leu)
|
rs750084851
|
0.00001
|
|
NM_000059.4(BRCA2):c.6523G>C (p.Glu2175Gln)
|
rs876658412
|
0.00001
|
|
NM_000059.4(BRCA2):c.6559C>T (p.Pro2187Ser)
|
rs868216475
|
0.00001
|
|
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met)
|
rs80358889
|
0.00001
|
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
|
NM_000059.4(BRCA2):c.6638C>T (p.Ser2213Phe)
|
rs75925841
|
0.00001
|
|
NM_000059.4(BRCA2):c.6641C>T (p.Thr2214Ile)
|
rs1566235063
|
0.00001
|
|
NM_000059.4(BRCA2):c.6646T>G (p.Ser2216Ala)
|
rs918816907
|
0.00001
|
|
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys)
|
rs397507875
|
0.00001
|
|
NM_000059.4(BRCA2):c.6683T>C (p.Val2228Ala)
|
rs80358894
|
0.00001
|
|
NM_000059.4(BRCA2):c.6688A>G (p.Ile2230Val)
|
rs587779366
|
0.00001
|
|
NM_000059.4(BRCA2):c.6698C>A (p.Ala2233Asp)
|
rs41293501
|
0.00001
|
|
NM_000059.4(BRCA2):c.67+4T>C
|
rs373546450
|
0.00001
|
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
|
NM_000059.4(BRCA2):c.6709G>C (p.Asp2237His)
|
rs1174104045
|
0.00001
|
|
NM_000059.4(BRCA2):c.6719T>A (p.Leu2240Gln)
|
rs369452046
|
0.00001
|
|
NM_000059.4(BRCA2):c.6734T>A (p.Leu2245Gln)
|
rs772795886
|
0.00001
|
|
NM_000059.4(BRCA2):c.6741T>A (p.Ser2247Arg)
|
rs80358898
|
0.00001
|
|
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)
|
rs80358904
|
0.00001
|
|
NM_000059.4(BRCA2):c.6796A>C (p.Asn2266His)
|
rs80358905
|
0.00001
|
|
NM_000059.4(BRCA2):c.6806T>C (p.Ile2269Thr)
|
rs398122564
|
0.00001
|
|
NM_000059.4(BRCA2):c.681+1G>A
|
rs398122565
|
0.00001
|
|
NM_000059.4(BRCA2):c.682-13A>G
|
rs81002888
|
0.00001
|
|
NM_000059.4(BRCA2):c.6827C>A (p.Pro2276His)
|
rs748541466
|
0.00001
|
|
NM_000059.4(BRCA2):c.6832A>G (p.Ile2278Val)
|
rs772645059
|
0.00001
|
|
NM_000059.4(BRCA2):c.6837A>T (p.Leu2279Phe)
|
rs431825346
|
0.00001
|
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00001
|
|
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)
|
rs80358914
|
0.00001
|
|
NM_000059.4(BRCA2):c.694T>C (p.Tyr232His)
|
rs398122572
|
0.00001
|
|
NM_000059.4(BRCA2):c.6970C>T (p.His2324Tyr)
|
rs764434091
|
0.00001
|
|
NM_000059.4(BRCA2):c.714_716dup (p.Glu238_Ser239insArg)
|
rs80359640
|
0.00001
|
|
NM_000059.4(BRCA2):c.7222C>T (p.Pro2408Ser)
|
rs398122577
|
0.00001
|
|
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr)
|
rs80358950
|
0.00001
|
|
NM_000059.4(BRCA2):c.7241C>T (p.Ser2414Leu)
|
rs80358951
|
0.00001
|
|
NM_000059.4(BRCA2):c.7301A>C (p.Lys2434Thr)
|
rs80358954
|
0.00001
|
|
NM_000059.4(BRCA2):c.7402G>A (p.Val2468Ile)
|
rs730881553
|
0.00001
|
|
NM_000059.4(BRCA2):c.7411A>G (p.Thr2471Ala)
|
rs771087264
|
0.00001
|
|
NM_000059.4(BRCA2):c.7429C>A (p.Pro2477Thr)
|
rs80358964
|
0.00001
|
|
NM_000059.4(BRCA2):c.7436-4A>G
|
rs81002904
|
0.00001
|
|
NM_000059.4(BRCA2):c.7438T>G (p.Leu2480Val)
|
rs80358965
|
0.00001
|
|
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn)
|
rs80358967
|
0.00001
|
|
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)
|
rs80358970
|
0.00001
|
|
NM_000059.4(BRCA2):c.747T>A (p.Ser249=)
|
rs767165913
|
0.00001
|
|
NM_000059.4(BRCA2):c.7540A>G (p.Lys2514Glu)
|
rs864622624
|
0.00001
|
|
NM_000059.4(BRCA2):c.754G>A (p.Asp252Asn)
|
rs549269828
|
0.00001
|
|
NM_000059.4(BRCA2):c.7585G>A (p.Gly2529Ser)
|
rs398122585
|
0.00001
|
|
NM_000059.4(BRCA2):c.7605T>G (p.Cys2535Trp)
|
rs966152147
|
0.00001
|
|
NM_000059.4(BRCA2):c.7606T>C (p.Ser2536Pro)
|
rs169548
|
0.00001
|
|
NM_000059.4(BRCA2):c.7616A>G (p.Gln2539Arg)
|
rs144728108
|
0.00001
|
|
NM_000059.4(BRCA2):c.7617+4T>C
|
rs397507923
|
0.00001
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
0.00001
|
|
NM_000059.4(BRCA2):c.7633G>A (p.Val2545Ile)
|
rs80358990
|
0.00001
|
|
NM_000059.4(BRCA2):c.7676C>G (p.Ser2559Cys)
|
rs1060502421
|
0.00001
|
|
NM_000059.4(BRCA2):c.7706G>A (p.Gly2569Asp)
|
rs587781943
|
0.00001
|
|
NM_000059.4(BRCA2):c.7714A>G (p.Ser2572Gly)
|
rs1060502442
|
0.00001
|
|
NM_000059.4(BRCA2):c.7739A>G (p.Gln2580Arg)
|
rs1064795508
|
0.00001
|
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
|
NM_000059.4(BRCA2):c.7766C>A (p.Pro2589His)
|
rs80359005
|
0.00001
|
|
NM_000059.4(BRCA2):c.7769C>G (p.Ser2590Cys)
|
rs786202615
|
0.00001
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
0.00001
|
|
NM_000059.4(BRCA2):c.784G>A (p.Ala262Thr)
|
rs397507393
|
0.00001
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
0.00001
|
|
NM_000059.4(BRCA2):c.7882A>G (p.Ile2628Val)
|
rs1483187442
|
0.00001
|
|
NM_000059.4(BRCA2):c.7914T>G (p.Phe2638Leu)
|
rs764248927
|
0.00001
|
|
NM_000059.4(BRCA2):c.7916C>T (p.Pro2639Leu)
|
rs774723315
|
0.00001
|
|
NM_000059.4(BRCA2):c.7930A>G (p.Asn2644Asp)
|
rs431825360
|
0.00001
|
|
NM_000059.4(BRCA2):c.7931A>G (p.Asn2644Ser)
|
rs80359020
|
0.00001
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
0.00001
|
|
NM_000059.4(BRCA2):c.79A>G (p.Ile27Val)
|
rs80359034
|
0.00001
|
|
NM_000059.4(BRCA2):c.8011G>T (p.Ala2671Ser)
|
rs786201976
|
0.00001
|
|
NM_000059.4(BRCA2):c.8039A>G (p.Asp2680Gly)
|
rs80359042
|
0.00001
|
|
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)
|
rs587782519
|
0.00001
|
|
NM_000059.4(BRCA2):c.8045C>T (p.Ala2682Val)
|
rs773506092
|
0.00001
|
|
NM_000059.4(BRCA2):c.8051A>G (p.Lys2684Arg)
|
rs80359043
|
0.00001
|
|
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro)
|
rs80359045
|
0.00001
|
|
NM_000059.4(BRCA2):c.8098A>C (p.Ile2700Leu)
|
rs80359053
|
0.00001
|
|
NM_000059.4(BRCA2):c.809C>T (p.Ser270Leu)
|
rs276174902
|
0.00001
|
|
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)
|
rs786204274
|
0.00001
|
|
NM_000059.4(BRCA2):c.8153T>C (p.Ile2718Thr)
|
rs80359060
|
0.00001
|
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
rs80359064
|
0.00001
|
|
NM_000059.4(BRCA2):c.8183T>C (p.Val2728Ala)
|
rs587781719
|
0.00001
|
|
NM_000059.4(BRCA2):c.8201C>T (p.Pro2734Leu)
|
rs876658732
|
0.00001
|
|
NM_000059.4(BRCA2):c.825A>T (p.Lys275Asn)
|
rs397507399
|
0.00001
|
|
NM_000059.4(BRCA2):c.8262T>G (p.His2754Gln)
|
rs587776472
|
0.00001
|
|
NM_000059.4(BRCA2):c.8275G>C (p.Val2759Leu)
|
rs1320594065
|
0.00001
|
|
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)
|
rs28897750
|
0.00001
|
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
|
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)
|
rs41293517
|
0.00001
|
|
NM_000059.4(BRCA2):c.8366A>G (p.Tyr2789Cys)
|
rs398122603
|
0.00001
|
|
NM_000059.4(BRCA2):c.8382C>G (p.Phe2794Leu)
|
rs80359084
|
0.00001
|
|
NM_000059.4(BRCA2):c.8422C>G (p.Leu2808Val)
|
rs786203867
|
0.00001
|
|
NM_000059.4(BRCA2):c.8430T>G (p.Ser2810Arg)
|
rs876658487
|
0.00001
|
|
NM_000059.4(BRCA2):c.8440A>G (p.Asn2814Asp)
|
rs876660312
|
0.00001
|
|
NM_000059.4(BRCA2):c.8450G>T (p.Cys2817Phe)
|
rs786201992
|
0.00001
|
|
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)
|
rs80359097
|
0.00001
|
|
NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val)
|
rs80359103
|
0.00001
|
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
|
NM_000059.4(BRCA2):c.8527A>G (p.Asn2843Asp)
|
rs876660403
|
0.00001
|
|
NM_000059.4(BRCA2):c.8539G>A (p.Glu2847Lys)
|
rs80359108
|
0.00001
|
|
NM_000059.4(BRCA2):c.8545A>G (p.Lys2849Glu)
|
rs80359109
|
0.00001
|
|
NM_000059.4(BRCA2):c.8551G>T (p.Ala2851Ser)
|
rs876658592
|
0.00001
|
|
NM_000059.4(BRCA2):c.8591C>G (p.Ala2864Gly)
|
rs80359116
|
0.00001
|
|
NM_000059.4(BRCA2):c.8599A>C (p.Thr2867Pro)
|
rs80359119
|
0.00001
|
|
NM_000059.4(BRCA2):c.8620G>A (p.Glu2874Lys)
|
rs397507996
|
0.00001
|
|
NM_000059.4(BRCA2):c.862C>T (p.Pro288Ser)
|
rs1464889530
|
0.00001
|
|
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser)
|
rs80359122
|
0.00001
|
|
NM_000059.4(BRCA2):c.8663G>A (p.Arg2888His)
|
rs80359124
|
0.00001
|
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
|
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)
|
rs80359128
|
0.00001
|
|
NM_000059.4(BRCA2):c.8708A>G (p.Glu2903Gly)
|
rs730881566
|
0.00001
|
|
NM_000059.4(BRCA2):c.8714A>G (p.Tyr2905Cys)
|
rs431825368
|
0.00001
|
|
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly)
|
rs80359130
|
0.00001
|
|
NM_000059.4(BRCA2):c.8775G>C (p.Gln2925His)
|
rs80359136
|
0.00001
|
|
NM_000059.4(BRCA2):c.8782G>T (p.Ala2928Ser)
|
rs587781762
|
0.00001
|
|
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr)
|
rs553440338
|
0.00001
|
|
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln)
|
rs142040996
|
0.00001
|
|
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala)
|
rs151174152
|
0.00001
|
|
NM_000059.4(BRCA2):c.886T>C (p.Tyr296His)
|
rs1347459118
|
0.00001
|
|
NM_000059.4(BRCA2):c.8893G>C (p.Asp2965His)
|
rs80359141
|
0.00001
|
|
NM_000059.4(BRCA2):c.8902A>G (p.Thr2968Ala)
|
rs587782021
|
0.00001
|
|
NM_000059.4(BRCA2):c.8915T>G (p.Leu2972Trp)
|
rs80359142
|
0.00001
|
|
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys)
|
rs139052578
|
0.00001
|
|
NM_000059.4(BRCA2):c.8942A>G (p.Glu2981Gly)
|
rs398122716
|
0.00001
|
|
NM_000059.4(BRCA2):c.8944A>C (p.Lys2982Gln)
|
rs80359145
|
0.00001
|
|
NM_000059.4(BRCA2):c.8971C>T (p.Arg2991Cys)
|
rs751787816
|
0.00001
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
0.00001
|
|
NM_000059.4(BRCA2):c.902A>G (p.Asp301Gly)
|
rs730881508
|
0.00001
|
|
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)
|
rs80359155
|
0.00001
|
|
NM_000059.4(BRCA2):c.905C>A (p.Thr302Asn)
|
rs80359158
|
0.00001
|
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
rs80359159
|
0.00001
|
|
NM_000059.4(BRCA2):c.9101A>G (p.Gln3034Arg)
|
rs80359164
|
0.00001
|
|
NM_000059.4(BRCA2):c.9102G>C (p.Gln3034His)
|
rs1336395181
|
0.00001
|
|
NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln)
|
rs80359171
|
0.00001
|
|
NM_000059.4(BRCA2):c.9205T>C (p.Cys3069Arg)
|
rs398122611
|
0.00001
|
|
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)
|
rs80359189
|
0.00001
|
|
NM_000059.4(BRCA2):c.9249A>T (p.Lys3083Asn)
|
rs80359191
|
0.00001
|
|
NM_000059.4(BRCA2):c.9257-8C>T
|
rs11571819
|
0.00001
|
|
NM_000059.4(BRCA2):c.9304G>A (p.Ala3102Thr)
|
rs747073940
|
0.00001
|
|
NM_000059.4(BRCA2):c.931T>G (p.Cys311Gly)
|
rs61754140
|
0.00001
|
|
NM_000059.4(BRCA2):c.9320T>C (p.Ile3107Thr)
|
rs397507425
|
0.00001
|
|
NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr)
|
rs770003991
|
0.00001
|
|
NM_000059.4(BRCA2):c.9352A>G (p.Met3118Val)
|
rs1566258951
|
0.00001
|
|
NM_000059.4(BRCA2):c.9365C>T (p.Ala3122Val)
|
rs571971903
|
0.00001
|
|
NM_000059.4(BRCA2):c.9383G>A (p.Arg3128Gln)
|
rs397507427
|
0.00001
|
|
NM_000059.4(BRCA2):c.9385C>T (p.Pro3129Ser)
|
rs80359213
|
0.00001
|
|
NM_000059.4(BRCA2):c.938C>T (p.Ser313Phe)
|
rs397507428
|
0.00001
|
|
NM_000059.4(BRCA2):c.9403C>T (p.Leu3135Phe)
|
rs55704151
|
0.00001
|
|
NM_000059.4(BRCA2):c.9407T>C (p.Leu3136Pro)
|
rs398122614
|
0.00001
|
|
NM_000059.4(BRCA2):c.9425A>G (p.Asp3142Gly)
|
rs80359216
|
0.00001
|
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
|
NM_000059.4(BRCA2):c.9442G>T (p.Ala3148Ser)
|
rs949790323
|
0.00001
|
|
NM_000059.4(BRCA2):c.9472A>G (p.Thr3158Ala)
|
rs786204284
|
0.00001
|
|
NM_000059.4(BRCA2):c.9496G>A (p.Val3166Ile)
|
rs398122615
|
0.00001
|
|
NM_000059.4(BRCA2):c.9501+1G>A
|
rs397508058
|
0.00001
|
|
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly)
|
rs80359224
|
0.00001
|
|
NM_000059.4(BRCA2):c.9518G>A (p.Cys3173Tyr)
|
rs2073040056
|
0.00001
|
|
NM_000059.4(BRCA2):c.9547A>G (p.Ile3183Val)
|
rs377123889
|
0.00001
|
|
NM_000059.4(BRCA2):c.9548T>C (p.Ile3183Thr)
|
rs755201475
|
0.00001
|
|
NM_000059.4(BRCA2):c.9551T>C (p.Leu3184Pro)
|
rs863224601
|
0.00001
|
|
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala)
|
rs80359227
|
0.00001
|
|
NM_000059.4(BRCA2):c.9604C>T (p.Pro3202Ser)
|
rs1555289789
|
0.00001
|
|
NM_000059.4(BRCA2):c.9605C>T (p.Pro3202Leu)
|
rs397507432
|
0.00001
|
|
NM_000059.4(BRCA2):c.9610A>G (p.Thr3204Ala)
|
rs80359231
|
0.00001
|
|
NM_000059.4(BRCA2):c.9616C>G (p.Gln3206Glu)
|
rs80359233
|
0.00001
|
|
NM_000059.4(BRCA2):c.9647T>C (p.Leu3216Pro)
|
rs431825377
|
0.00001
|
|
NM_000059.4(BRCA2):c.9649A>C (p.Met3217Leu)
|
rs786203000
|
0.00001
|
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
|
NM_000059.4(BRCA2):c.9690A>T (p.Leu3230Phe)
|
rs80359238
|
0.00001
|
|
NM_000059.4(BRCA2):c.9718G>A (p.Val3240Ile)
|
rs80359240
|
0.00001
|
|
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)
|
rs397507435
|
0.00001
|
|
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His)
|
rs80359246
|
0.00001
|
|
NM_000059.4(BRCA2):c.9983T>G (p.Phe3328Cys)
|
rs770826575
|
0.00001
|
|
NM_000059.4(BRCA2):c.998T>C (p.Phe333Ser)
|
rs781464949
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1090C>T (p.Arg364Trp)
|
rs529038948
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1294A>G (p.Lys432Glu)
|
rs757788424
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met)
|
rs140246559
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)
|
rs80338777
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)
|
rs80338777
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1827+6C>T
|
rs202244301
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1983G>A (p.Val661=)
|
rs763510435
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2064-5C>T
|
rs1233259784
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn)
|
rs756920981
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys)
|
rs1313818230
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)
|
rs770073633
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys)
|
rs777247285
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2276G>A (p.Arg759His)
|
rs771314646
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2311G>A (p.Val771Met)
|
rs778705388
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2361-3C>T
|
rs774194599
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg)
|
rs1356510559
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2746-8G>C
|
rs1572039133
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2884A>G (p.Lys962Glu)
|
rs200300308
|
0.00001
|
|
NM_000069.3(CACNA1S):c.288C>T (p.Val96=)
|
rs548832647
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met)
|
rs757840865
|
0.00001
|
|
NM_000069.3(CACNA1S):c.293C>T (p.Ser98Leu)
|
rs1310029541
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2964C>T (p.Arg988=)
|
rs778128095
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=)
|
rs371818752
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3043G>A (p.Gly1015Arg)
|
rs202242262
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3054G>A (p.Gln1018=)
|
rs141956714
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)
|
rs1473668614
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val)
|
rs757165791
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3414+3A>T
|
rs892742196
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3428C>T (p.Ser1143Leu)
|
rs756712640
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3440A>G (p.Asn1147Ser)
|
rs762768883
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3525+1G>A
|
rs1572033599
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3526-3C>T
|
rs753852308
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)
|
rs200366112
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3610-12T>G
|
rs754526467
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3725G>A (p.Arg1242Lys)
|
rs750637537
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)
|
rs201627041
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile)
|
rs760441649
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)
|
rs756438139
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His)
|
rs764330337
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser)
|
rs772750589
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4601G>A (p.Arg1534Gln)
|
rs891244994
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4760C>A (p.Ala1587Asp)
|
rs749495704
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4798-2A>G
|
rs1428157373
|
0.00001
|
|
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr)
|
rs199989324
|
0.00001
|
|
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)
|
rs201998231
|
0.00001
|
|
NM_000069.3(CACNA1S):c.5119C>G (p.Pro1707Ala)
|
rs1426011893
|
0.00001
|
|
NM_000069.3(CACNA1S):c.5254G>A (p.Glu1752Lys)
|
rs747004063
|
0.00001
|
|
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=)
|
rs750087191
|
0.00001
|
|
NM_000069.3(CACNA1S):c.5437G>A (p.Ala1813Thr)
|
rs777333498
|
0.00001
|
|
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg)
|
rs771569004
|
0.00001
|
|
NM_000069.3(CACNA1S):c.686T>C (p.Ile229Thr)
|
rs778551098
|
0.00001
|
|
NM_000069.3(CACNA1S):c.695-1G>A
|
rs1213421499
|
0.00001
|
|
NM_000069.3(CACNA1S):c.709G>A (p.Val237Met)
|
rs766892095
|
0.00001
|
|
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn)
|
rs757755172
|
0.00001
|
|
NM_000077.5(CDKN2A):c.104G>C (p.Gly35Ala)
|
rs746834149
|
0.00001
|
|
NM_000077.5(CDKN2A):c.11C>G (p.Ala4Gly)
|
rs1277299943
|
0.00001
|
|
NM_000077.5(CDKN2A):c.168C>T (p.Ser56=)
|
rs771138120
|
0.00001
|
|
NM_000077.5(CDKN2A):c.177G>A (p.Val59=)
|
rs527503775
|
0.00001
|
|
NM_000077.5(CDKN2A):c.210C>T (p.Pro70=)
|
rs864622570
|
0.00001
|
|
NM_000077.5(CDKN2A):c.225C>G (p.Pro75=)
|
rs762397298
|
0.00001
|
|
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu)
|
rs763269347
|
0.00001
|
|
NM_000077.5(CDKN2A):c.320G>A (p.Arg107His)
|
rs370823171
|
0.00001
|
|
NM_000077.5(CDKN2A):c.32C>T (p.Pro11Leu)
|
rs1374664673
|
0.00001
|
|
NM_000077.5(CDKN2A):c.351G>C (p.Leu117=)
|
rs1060504182
|
0.00001
|
|
NM_000077.5(CDKN2A):c.388C>T (p.Leu130=)
|
rs1060501261
|
0.00001
|
|
NM_000077.5(CDKN2A):c.407G>A (p.Gly136Asp)
|
rs758832729
|
0.00001
|
|
NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg)
|
rs587781733
|
0.00001
|
|
NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr)
|
rs754195015
|
0.00001
|
|
NM_000077.5(CDKN2A):c.458-105A>G
|
rs1060501266
|
0.00001
|
|
NM_000077.5(CDKN2A):c.4G>C (p.Glu2Gln)
|
rs1060501273
|
0.00001
|
|
NM_000090.4(COL3A1):c.1460C>T (p.Ala487Val)
|
rs770157568
|
0.00001
|
|
NM_000090.4(COL3A1):c.1761+6T>C
|
rs189483688
|
0.00001
|
|
NM_000090.4(COL3A1):c.1813C>G (p.Gln605Glu)
|
rs764299277
|
0.00001
|
|
NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala)
|
rs376525602
|
0.00001
|
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
0.00001
|
|
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met)
|
rs372269408
|
0.00001
|
|
NM_000090.4(COL3A1):c.2446-3T>C
|
rs1325362291
|
0.00001
|
|
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu)
|
rs780260944
|
0.00001
|
|
NM_000090.4(COL3A1):c.3526-10C>T
|
rs376171095
|
0.00001
|
|
NM_000090.4(COL3A1):c.3745A>G (p.Ile1249Val)
|
rs779018915
|
0.00001
|
|
NM_000090.4(COL3A1):c.4100A>G (p.Asn1367Ser)
|
rs746580509
|
0.00001
|
|
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly)
|
rs1415901923
|
0.00001
|
|
NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr)
|
rs374476865
|
0.00001
|
|
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser)
|
rs771654029
|
0.00001
|
|
NM_000090.4(COL3A1):c.531C>A (p.Gly177=)
|
rs41272797
|
0.00001
|
|
NM_000090.4(COL3A1):c.928C>T (p.Arg310Trp)
|
rs757062073
|
0.00001
|
|
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)
|
rs752010116
|
0.00001
|
|
NM_000138.5(FBN1):c.1177A>G (p.Met393Val)
|
rs983129867
|
0.00001
|
|
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln)
|
rs568810058
|
0.00001
|
|
NM_000138.5(FBN1):c.149A>T (p.His50Leu)
|
rs886039132
|
0.00001
|
|
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val)
|
rs759813328
|
0.00001
|
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
0.00001
|
|
NM_000138.5(FBN1):c.2115G>A (p.Ala705=)
|
rs932764622
|
0.00001
|
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
|
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)
|
rs886051252
|
0.00001
|
|
NM_000138.5(FBN1):c.2590A>G (p.Ile864Val)
|
rs763895619
|
0.00001
|
|
NM_000138.5(FBN1):c.2911A>G (p.Ile971Val)
|
rs766660415
|
0.00001
|
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
|
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn)
|
rs573187346
|
0.00001
|
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
|
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=)
|
rs536546914
|
0.00001
|
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00001
|
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
|
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)
|
rs377338217
|
0.00001
|
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
|
NM_000138.5(FBN1):c.5495G>A (p.Arg1832His)
|
rs764203302
|
0.00001
|
|
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val)
|
rs760170973
|
0.00001
|
|
NM_000138.5(FBN1):c.6163+2dup
|
rs794728315
|
0.00001
|
|
NM_000138.5(FBN1):c.6783A>C (p.Lys2261Asn)
|
rs771716423
|
0.00001
|
|
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)
|
rs775558051
|
0.00001
|
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
|
NM_000138.5(FBN1):c.75G>A (p.Ala25=)
|
rs543230518
|
0.00001
|
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00001
|
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
|
NM_000138.5(FBN1):c.8602G>A (p.Val2868Ile)
|
rs1365239366
|
0.00001
|
|
NM_000169.3(GLA):c.1028C>T (p.Pro343Leu)
|
rs1555984858
|
0.00001
|
|
NM_000169.3(GLA):c.1060A>G (p.Ile354Val)
|
rs782200316
|
0.00001
|
|
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)
|
rs797044776
|
0.00001
|
|
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
|
rs782449839
|
0.00001
|
|
NM_000169.3(GLA):c.122C>G (p.Thr41Ser)
|
rs782362194
|
0.00001
|
|
NM_000169.3(GLA):c.124A>C (p.Met42Leu)
|
rs797044613
|
0.00001
|
|
NM_000169.3(GLA):c.194+6A>G
|
rs1463398466
|
0.00001
|
|
NM_000169.3(GLA):c.26A>G (p.His9Arg)
|
rs1555987214
|
0.00001
|
|
NM_000169.3(GLA):c.330T>G (p.Pro110=)
|
rs781967285
|
0.00001
|
|
NM_000169.3(GLA):c.576T>C (p.Asn192=)
|
rs2147476101
|
0.00001
|
|
NM_000169.3(GLA):c.596T>C (p.Val199Ala)
|
rs781871113
|
0.00001
|
|
NM_000169.3(GLA):c.724A>G (p.Ile242Val)
|
rs397515873
|
0.00001
|
|
NM_000179.3(MSH6):c.-12C>G
|
rs766407370
|
0.00001
|
|
NM_000179.3(MSH6):c.1078A>G (p.Ser360Gly)
|
rs145994565
|
0.00001
|
|
NM_000179.3(MSH6):c.1132A>C (p.Arg378=)
|
rs781572949
|
0.00001
|
|
NM_000179.3(MSH6):c.1168G>A (p.Asp390Asn)
|
rs147737737
|
0.00001
|
|
NM_000179.3(MSH6):c.117G>A (p.Gly39=)
|
rs756673077
|
0.00001
|
|
NM_000179.3(MSH6):c.1211A>G (p.Asn404Ser)
|
rs768740986
|
0.00001
|
|
NM_000179.3(MSH6):c.131C>T (p.Pro44Leu)
|
rs863224615
|
0.00001
|
|
NM_000179.3(MSH6):c.1403G>A (p.Arg468His)
|
rs41295268
|
0.00001
|
|
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)
|
rs63751009
|
0.00001
|
|
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)
|
rs373726731
|
0.00001
|
|
NM_000179.3(MSH6):c.1601A>C (p.Asn534Thr)
|
rs1572723598
|
0.00001
|
|
NM_000179.3(MSH6):c.1607G>C (p.Ser536Thr)
|
rs587782352
|
0.00001
|
|
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)
|
rs63751098
|
0.00001
|
|
NM_000179.3(MSH6):c.1707C>T (p.Phe569=)
|
rs1553413086
|
0.00001
|
|
NM_000179.3(MSH6):c.1708A>G (p.Ile570Val)
|
rs61748081
|
0.00001
|
|
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)
|
rs201096652
|
0.00001
|
|
NM_000179.3(MSH6):c.194C>T (p.Ser65Leu)
|
rs41294984
|
0.00001
|
|
NM_000179.3(MSH6):c.1952T>C (p.Ile651Thr)
|
rs144823143
|
0.00001
|
|
NM_000179.3(MSH6):c.1995G>C (p.Glu665Asp)
|
rs587778532
|
0.00001
|
|
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)
|
rs143643688
|
0.00001
|
|
NM_000179.3(MSH6):c.208A>G (p.Lys70Glu)
|
rs863224621
|
0.00001
|
|
NM_000179.3(MSH6):c.2141C>G (p.Ser714Cys)
|
rs730881796
|
0.00001
|
|
NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile)
|
rs587782805
|
0.00001
|
|
NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys)
|
rs730881817
|
0.00001
|
|
NM_000179.3(MSH6):c.251C>T (p.Ala84Val)
|
rs878853717
|
0.00001
|
|
NM_000179.3(MSH6):c.2600T>G (p.Val867Gly)
|
rs139598980
|
0.00001
|
|
NM_000179.3(MSH6):c.2702G>A (p.Arg901His)
|
rs63749889
|
0.00001
|
|
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)
|
rs143520357
|
0.00001
|
|
NM_000179.3(MSH6):c.2879A>G (p.Asn960Ser)
|
rs746341645
|
0.00001
|
|
NM_000179.3(MSH6):c.2956A>G (p.Thr986Ala)
|
rs1553414327
|
0.00001
|
|
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala)
|
rs746631156
|
0.00001
|
|
NM_000179.3(MSH6):c.2966A>G (p.Asn989Ser)
|
rs763146296
|
0.00001
|
|
NM_000179.3(MSH6):c.3015A>G (p.Arg1005=)
|
rs990650403
|
0.00001
|
|
NM_000179.3(MSH6):c.3049A>G (p.Asn1017Asp)
|
rs1060502943
|
0.00001
|
|
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)
|
rs376452612
|
0.00001
|
|
NM_000179.3(MSH6):c.3254C>A (p.Thr1085Asn)
|
rs761724581
|
0.00001
|
|
NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu)
|
rs747441460
|
0.00001
|
|
NM_000179.3(MSH6):c.336C>A (p.Asn112Lys)
|
rs1182444882
|
0.00001
|
|
NM_000179.3(MSH6):c.3383A>G (p.Tyr1128Cys)
|
rs587779261
|
0.00001
|
|
NM_000179.3(MSH6):c.33C>G (p.Phe11Leu)
|
rs747802641
|
0.00001
|
|
NM_000179.3(MSH6):c.3447A>C (p.Leu1149Phe)
|
rs876660151
|
0.00001
|
|
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly)
|
rs587782625
|
0.00001
|
|
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val)
|
rs182024561
|
0.00001
|
|
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)
|
rs587779273
|
0.00001
|
|
NM_000179.3(MSH6):c.379G>A (p.Val127Ile)
|
rs1553410307
|
0.00001
|
|
NM_000179.3(MSH6):c.38A>G (p.Lys13Arg)
|
rs41294988
|
0.00001
|
|
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)
|
rs780187989
|
0.00001
|
|
NM_000179.3(MSH6):c.4000_4001+17dup
|
rs1064794929
|
0.00001
|
|
NM_000179.3(MSH6):c.4002-4T>C
|
rs370428032
|
0.00001
|
|
NM_000179.3(MSH6):c.4002-8A>C
|
rs778957100
|
0.00001
|
|
NM_000179.3(MSH6):c.457+7G>C
|
rs781280171
|
0.00001
|
|
NM_000179.3(MSH6):c.458-17A>G
|
rs554847828
|
0.00001
|
|
NM_000179.3(MSH6):c.476C>T (p.Ala159Val)
|
rs587778528
|
0.00001
|
|
NM_000179.3(MSH6):c.521G>A (p.Arg174Lys)
|
rs863224629
|
0.00001
|
|
NM_000179.3(MSH6):c.533G>A (p.Arg178His)
|
rs786204186
|
0.00001
|
|
NM_000179.3(MSH6):c.533G>T (p.Arg178Leu)
|
rs786204186
|
0.00001
|
|
NM_000179.3(MSH6):c.558C>G (p.Asp186Glu)
|
rs587779943
|
0.00001
|
|
NM_000179.3(MSH6):c.622A>G (p.Met208Val)
|
rs369058374
|
0.00001
|
|
NM_000179.3(MSH6):c.659A>G (p.Glu220Gly)
|
rs764478569
|
0.00001
|
|
NM_000179.3(MSH6):c.67G>C (p.Ala23Pro)
|
rs730881810
|
0.00001
|
|
NM_000179.3(MSH6):c.869T>C (p.Leu290Pro)
|
rs751309721
|
0.00001
|
|
NM_000179.3(MSH6):c.905G>A (p.Arg302Lys)
|
rs587781510
|
0.00001
|
|
NM_000179.3(MSH6):c.947G>A (p.Arg316Lys)
|
rs562487553
|
0.00001
|
|
NM_000179.3(MSH6):c.956C>T (p.Thr319Met)
|
rs188252826
|
0.00001
|
|
NM_000179.3(MSH6):c.979A>G (p.Thr327Ala)
|
rs730881814
|
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_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile)
|
rs794728346
|
0.00001
|
|
NM_000249.4(MLH1):c.-14C>T
|
rs730881744
|
0.00001
|
|
NM_000249.4(MLH1):c.-8G>T
|
rs761672073
|
0.00001
|
|
NM_000249.4(MLH1):c.1060G>A (p.Gly354Ser)
|
rs752962453
|
0.00001
|
|
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)
|
rs201673334
|
0.00001
|
|
NM_000249.4(MLH1):c.1123A>G (p.Ser375Gly)
|
rs1060500694
|
0.00001
|
|
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)
|
rs587779951
|
0.00001
|
|
NM_000249.4(MLH1):c.1231A>G (p.Ile411Val)
|
rs535470039
|
0.00001
|
|
NM_000249.4(MLH1):c.1318G>A (p.Val440Met)
|
rs864622250
|
0.00001
|
|
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)
|
rs587779952
|
0.00001
|
|
NM_000249.4(MLH1):c.1415G>A (p.Arg472Lys)
|
rs63750498
|
0.00001
|
|
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)
|
rs63751083
|
0.00001
|
|
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)
|
rs587778917
|
0.00001
|
|
NM_000249.4(MLH1):c.1558+4C>T
|
rs531873434
|
0.00001
|
|
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)
|
rs63751596
|
0.00001
|
|
NM_000249.4(MLH1):c.1675C>A (p.Leu559Met)
|
rs780221881
|
0.00001
|
|
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val)
|
rs1559578814
|
0.00001
|
|
NM_000249.4(MLH1):c.1770A>C (p.Leu590Phe)
|
rs769239969
|
0.00001
|
|
NM_000249.4(MLH1):c.1897-3C>T
|
rs748763466
|
0.00001
|
|
NM_000249.4(MLH1):c.1990-19T>C
|
rs917265670
|
0.00001
|
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
|
NM_000249.4(MLH1):c.207+1G>A
|
rs267607718
|
0.00001
|
|
NM_000249.4(MLH1):c.2094A>G (p.Ser698=)
|
rs786202433
|
0.00001
|
|
NM_000249.4(MLH1):c.2103+6G>T
|
rs1057521607
|
0.00001
|
|
NM_000249.4(MLH1):c.2135G>T (p.Trp712Leu)
|
rs63750561
|
0.00001
|
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
|
NM_000249.4(MLH1):c.286A>G (p.Thr96Ala)
|
rs770276731
|
0.00001
|
|
NM_000249.4(MLH1):c.306+3A>G
|
rs267607731
|
0.00001
|
|
NM_000249.4(MLH1):c.389A>G (p.Tyr130Cys)
|
rs587779011
|
0.00001
|
|
NM_000249.4(MLH1):c.452C>T (p.Thr151Met)
|
rs776969475
|
0.00001
|
|
NM_000249.4(MLH1):c.513A>G (p.Glu171=)
|
rs779148982
|
0.00001
|
|
NM_000249.4(MLH1):c.682C>A (p.Leu228Met)
|
rs751628735
|
0.00001
|
|
NM_000249.4(MLH1):c.704A>T (p.Asp235Val)
|
rs587781505
|
0.00001
|
|
NM_000249.4(MLH1):c.778C>T (p.Leu260Phe)
|
rs63750642
|
0.00001
|
|
NM_000249.4(MLH1):c.885-3C>T
|
rs774073825
|
0.00001
|
|
NM_000249.4(MLH1):c.925C>T (p.Pro309Ser)
|
rs267607808
|
0.00001
|
|
NM_000249.4(MLH1):c.978G>A (p.Val326=)
|
rs1553648104
|
0.00001
|
|
NM_000251.3(MSH2):c.100G>A (p.Val34Met)
|
rs1064793541
|
0.00001
|
|
NM_000251.3(MSH2):c.1051A>G (p.Met351Val)
|
rs138026880
|
0.00001
|
|
NM_000251.3(MSH2):c.1053G>C (p.Met351Ile)
|
rs373122667
|
0.00001
|
|
NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)
|
rs878853797
|
0.00001
|
|
NM_000251.3(MSH2):c.1109C>T (p.Ala370Val)
|
rs139652783
|
0.00001
|
|
NM_000251.3(MSH2):c.1114T>G (p.Leu372Val)
|
rs770201760
|
0.00001
|
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
|
NM_000251.3(MSH2):c.1148G>A (p.Arg383Gln)
|
rs376934727
|
0.00001
|
|
NM_000251.3(MSH2):c.1154C>T (p.Pro385Leu)
|
rs564736113
|
0.00001
|
|
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)
|
rs878853798
|
0.00001
|
|
NM_000251.3(MSH2):c.1184A>G (p.Gln395Arg)
|
rs779944676
|
0.00001
|
|
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)
|
rs63751260
|
0.00001
|
|
NM_000251.3(MSH2):c.11A>T (p.Gln4Leu)
|
rs754562075
|
0.00001
|
|
NM_000251.3(MSH2):c.121G>T (p.Asp41Tyr)
|
rs878853799
|
0.00001
|
|
NM_000251.3(MSH2):c.1221C>G (p.Leu407=)
|
rs63750813
|
0.00001
|
|
NM_000251.3(MSH2):c.1228G>T (p.Gly410Cys)
|
rs587782242
|
0.00001
|
|
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)
|
rs761960690
|
0.00001
|
|
NM_000251.3(MSH2):c.1267A>G (p.Lys423Glu)
|
rs201059765
|
0.00001
|
|
NM_000251.3(MSH2):c.1270C>T (p.His424Tyr)
|
rs587782278
|
0.00001
|
|
NM_000251.3(MSH2):c.1301C>T (p.Ala434Val)
|
rs768070717
|
0.00001
|
|
NM_000251.3(MSH2):c.1316C>T (p.Pro439Leu)
|
rs771789692
|
0.00001
|
|
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn)
|
rs587781331
|
0.00001
|
|
NM_000251.3(MSH2):c.1358T>C (p.Met453Thr)
|
rs63750697
|
0.00001
|
|
NM_000251.3(MSH2):c.1360A>G (p.Ile454Val)
|
rs587781627
|
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.1379T>C (p.Met460Thr)
|
rs1553361303
|
0.00001
|
|
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu)
|
rs63751403
|
0.00001
|
|
NM_000251.3(MSH2):c.1425T>A (p.Asp475Glu)
|
rs1318535736
|
0.00001
|
|
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)
|
rs587781314
|
0.00001
|
|
NM_000251.3(MSH2):c.1478A>T (p.Gln493Leu)
|
rs376990143
|
0.00001
|
|
NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro)
|
rs55653533
|
0.00001
|
|
NM_000251.3(MSH2):c.1483A>G (p.Thr495Ala)
|
rs730881757
|
0.00001
|
|
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)
|
rs755501968
|
0.00001
|
|
NM_000251.3(MSH2):c.1550C>A (p.Ala517Glu)
|
rs1060501997
|
0.00001
|
|
NM_000251.3(MSH2):c.1597C>G (p.Leu533Val)
|
rs786202987
|
0.00001
|
|
NM_000251.3(MSH2):c.1607A>G (p.Asn536Ser)
|
rs201722703
|
0.00001
|
|
NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile)
|
rs864622079
|
0.00001
|
|
NM_000251.3(MSH2):c.163C>G (p.Arg55Gly)
|
rs587782354
|
0.00001
|
|
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser)
|
rs267607967
|
0.00001
|
|
NM_000251.3(MSH2):c.1645G>A (p.Val549Ile)
|
rs876659905
|
0.00001
|
|
NM_000251.3(MSH2):c.164G>A (p.Arg55Gln)
|
rs748196422
|
0.00001
|
|
NM_000251.3(MSH2):c.169G>A (p.Val57Met)
|
rs267607913
|
0.00001
|
|
NM_000251.3(MSH2):c.1729A>G (p.Ile577Val)
|
rs774985655
|
0.00001
|
|
NM_000251.3(MSH2):c.177G>C (p.Lys59Asn)
|
rs1449905909
|
0.00001
|
|
NM_000251.3(MSH2):c.1781C>T (p.Thr594Ile)
|
rs1553368510
|
0.00001
|
|
NM_000251.3(MSH2):c.1792G>A (p.Val598Met)
|
rs778152746
|
0.00001
|
|
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)
|
rs748797209
|
0.00001
|
|
NM_000251.3(MSH2):c.1819A>G (p.Ser607Gly)
|
rs772991620
|
0.00001
|
|
NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser)
|
rs150980616
|
0.00001
|
|
NM_000251.3(MSH2):c.184G>A (p.Gly62Arg)
|
rs767140240
|
0.00001
|
|
NM_000251.3(MSH2):c.1894A>G (p.Ile632Val)
|
rs1301770111
|
0.00001
|
|
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val)
|
rs771695599
|
0.00001
|
|
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr)
|
rs864622093
|
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.192C>G (p.Ile64Met)
|
rs1395172053
|
0.00001
|
|
NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu)
|
rs267607982
|
0.00001
|
|
NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys)
|
rs185356145
|
0.00001
|
|
NM_000251.3(MSH2):c.199A>G (p.Met67Val)
|
rs768824654
|
0.00001
|
|
NM_000251.3(MSH2):c.19G>A (p.Glu7Lys)
|
rs375561490
|
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.20A>C (p.Glu7Ala)
|
rs530071578
|
0.00001
|
|
NM_000251.3(MSH2):c.2102A>C (p.Glu701Ala)
|
rs876659187
|
0.00001
|
|
NM_000251.3(MSH2):c.2110A>G (p.Ile704Val)
|
rs730881764
|
0.00001
|
|
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr)
|
rs564657106
|
0.00001
|
|
NM_000251.3(MSH2):c.2122A>G (p.Ile708Val)
|
rs750084297
|
0.00001
|
|
NM_000251.3(MSH2):c.2129C>G (p.Ala710Gly)
|
rs373717132
|
0.00001
|
|
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile)
|
rs587781996
|
0.00001
|
|
NM_000251.3(MSH2):c.2187G>A (p.Met729Ile)
|
rs587779141
|
0.00001
|
|
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)
|
rs772662439
|
0.00001
|
|
NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn)
|
rs879254183
|
0.00001
|
|
NM_000251.3(MSH2):c.2296A>G (p.Ile766Val)
|
rs374399939
|
0.00001
|
|
NM_000251.3(MSH2):c.2298A>G (p.Ile766Met)
|
rs1064795116
|
0.00001
|
|
NM_000251.3(MSH2):c.2315C>G (p.Thr772Arg)
|
rs1263286428
|
0.00001
|
|
NM_000251.3(MSH2):c.2376T>A (p.Asn792Lys)
|
rs1281667531
|
0.00001
|
|
NM_000251.3(MSH2):c.2387C>T (p.Thr796Ile)
|
rs863224641
|
0.00001
|
|
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)
|
rs63749841
|
0.00001
|
|
NM_000251.3(MSH2):c.2439G>A (p.Met813Ile)
|
rs587781678
|
0.00001
|
|
NM_000251.3(MSH2):c.2447A>G (p.Gln816Arg)
|
rs768572053
|
0.00001
|
|
NM_000251.3(MSH2):c.2458+4T>C
|
rs1038735071
|
0.00001
|
|
NM_000251.3(MSH2):c.2504A>G (p.Asn835Ser)
|
rs779729016
|
0.00001
|
|
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val)
|
rs373393954
|
0.00001
|
|
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)
|
rs63750571
|
0.00001
|
|
NM_000251.3(MSH2):c.2542G>T (p.Ala848Ser)
|
rs746972142
|
0.00001
|
|
NM_000251.3(MSH2):c.2546T>G (p.Leu849Arg)
|
rs1316766241
|
0.00001
|
|
NM_000251.3(MSH2):c.2549A>G (p.Glu850Gly)
|
rs1667497027
|
0.00001
|
|
NM_000251.3(MSH2):c.2554G>C (p.Glu852Gln)
|
rs587779966
|
0.00001
|
|
NM_000251.3(MSH2):c.2564A>G (p.Gln855Arg)
|
rs587782256
|
0.00001
|
|
NM_000251.3(MSH2):c.2571T>G (p.Ile857Met)
|
rs1400051085
|
0.00001
|
|
NM_000251.3(MSH2):c.2572G>A (p.Gly858Arg)
|
rs754533481
|
0.00001
|
|
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu)
|
rs63750849
|
0.00001
|
|
NM_000251.3(MSH2):c.2591A>G (p.Asp864Gly)
|
rs863224642
|
0.00001
|
|
NM_000251.3(MSH2):c.2594T>C (p.Ile865Thr)
|
rs549759248
|
0.00001
|
|
NM_000251.3(MSH2):c.2595C>T (p.Ile865=)
|
rs547695133
|
0.00001
|
|
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)
|
rs730881772
|
0.00001
|
|
NM_000251.3(MSH2):c.2640T>C (p.Gly880=)
|
rs1368565489
|
0.00001
|
|
NM_000251.3(MSH2):c.2651T>C (p.Ile884Thr)
|
rs63750409
|
0.00001
|
|
NM_000251.3(MSH2):c.266T>C (p.Val89Ala)
|
rs876659747
|
0.00001
|
|
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)
|
rs587779154
|
0.00001
|
|
NM_000251.3(MSH2):c.2776A>G (p.Ile926Val)
|
rs995312903
|
0.00001
|
|
NM_000251.3(MSH2):c.2798C>T (p.Thr933Ile)
|
rs587779968
|
0.00001
|
|
NM_000251.3(MSH2):c.319G>C (p.Ala107Pro)
|
rs587779158
|
0.00001
|
|
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)
|
rs587779971
|
0.00001
|
|
NM_000251.3(MSH2):c.366+4A>C
|
rs876659880
|
0.00001
|
|
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)
|
rs730881768
|
0.00001
|
|
NM_000251.3(MSH2):c.413A>G (p.Asn138Ser)
|
rs769154205
|
0.00001
|
|
NM_000251.3(MSH2):c.422T>C (p.Met141Thr)
|
rs768313658
|
0.00001
|
|
NM_000251.3(MSH2):c.437G>T (p.Gly146Val)
|
rs772052262
|
0.00001
|
|
NM_000251.3(MSH2):c.439G>A (p.Val147Ile)
|
rs773125415
|
0.00001
|
|
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala)
|
rs765489269
|
0.00001
|
|
NM_000251.3(MSH2):c.49G>A (p.Val17Ile)
|
rs63750966
|
0.00001
|
|
NM_000251.3(MSH2):c.507A>G (p.Ile169Met)
|
rs748762580
|
0.00001
|
|
NM_000251.3(MSH2):c.51C>A (p.Val17=)
|
rs397515879
|
0.00001
|
|
NM_000251.3(MSH2):c.544G>T (p.Asp182Tyr)
|
rs730881770
|
0.00001
|
|
NM_000251.3(MSH2):c.547C>A (p.Gln183Lys)
|
rs63750037
|
0.00001
|
|
NM_000251.3(MSH2):c.54C>T (p.Gly18=)
|
rs63750777
|
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.605C>T (p.Pro202Leu)
|
rs1060502002
|
0.00001
|
|
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)
|
rs63750574
|
0.00001
|
|
NM_000251.3(MSH2):c.613G>C (p.Glu205Gln)
|
rs63749984
|
0.00001
|
|
NM_000251.3(MSH2):c.62G>T (p.Arg21Leu)
|
rs730881760
|
0.00001
|
|
NM_000251.3(MSH2):c.631G>A (p.Gly211Arg)
|
rs587780689
|
0.00001
|
|
NM_000251.3(MSH2):c.641G>T (p.Arg214Ile)
|
rs763298811
|
0.00001
|
|
NM_000251.3(MSH2):c.645+8A>G
|
rs140217708
|
0.00001
|
|
NM_000251.3(MSH2):c.646-3T>C
|
rs267607930
|
0.00001
|
|
NM_000251.3(MSH2):c.668T>C (p.Leu223Pro)
|
rs1060501992
|
0.00001
|
|
NM_000251.3(MSH2):c.700A>G (p.Thr234Ala)
|
rs1212577306
|
0.00001
|
|
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile)
|
rs730881773
|
0.00001
|
|
NM_000251.3(MSH2):c.709A>G (p.Ile237Val)
|
rs63751307
|
0.00001
|
|
NM_000251.3(MSH2):c.70C>G (p.Gln24Glu)
|
rs587779976
|
0.00001
|
|
NM_000251.3(MSH2):c.715C>G (p.Gln239Glu)
|
rs63750488
|
0.00001
|
|
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)
|
rs199676483
|
0.00001
|
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
|
NM_000251.3(MSH2):c.72G>C (p.Gln24His)
|
rs1064794928
|
0.00001
|
|
NM_000251.3(MSH2):c.755A>G (p.Gln252Arg)
|
rs370906735
|
0.00001
|
|
NM_000251.3(MSH2):c.763A>G (p.Ser255Gly)
|
rs761529282
|
0.00001
|
|
NM_000251.3(MSH2):c.764G>A (p.Ser255Asn)
|
rs763184168
|
0.00001
|
|
NM_000251.3(MSH2):c.782T>C (p.Met261Thr)
|
rs63749969
|
0.00001
|
|
NM_000251.3(MSH2):c.791A>G (p.Gln264Arg)
|
rs730881780
|
0.00001
|
|
NM_000251.3(MSH2):c.803C>T (p.Ser268Leu)
|
rs563410947
|
0.00001
|
|
NM_000251.3(MSH2):c.816G>A (p.Ala272=)
|
rs368912987
|
0.00001
|
|
NM_000251.3(MSH2):c.841T>C (p.Ser281Pro)
|
rs587779977
|
0.00001
|
|
NM_000251.3(MSH2):c.855C>G (p.Asn285Lys)
|
rs759242666
|
0.00001
|
|
NM_000251.3(MSH2):c.951T>A (p.Val317=)
|
rs1553353105
|
0.00001
|
|
NM_000251.3(MSH2):c.956A>T (p.Asp319Val)
|
rs786204185
|
0.00001
|
|
NM_000251.3(MSH2):c.962C>G (p.Thr321Ser)
|
rs1233448699
|
0.00001
|
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
|
NM_000251.3(MSH2):c.982G>C (p.Ala328Pro)
|
rs753237286
|
0.00001
|
|
NM_000251.3(MSH2):c.987G>C (p.Leu329Phe)
|
rs933434691
|
0.00001
|
|
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)
|
rs779673318
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=)
|
rs758016271
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His)
|
rs199741162
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1282T>C (p.Leu428=)
|
rs758253767
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=)
|
rs757832991
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=)
|
rs367980215
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys)
|
rs780449220
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3379C>T (p.Pro1127Ser)
|
rs1488618086
|
0.00001
|
|
NM_000256.3(MYBPC3):c.534G>T (p.Val178=)
|
rs759249105
|
0.00001
|
|
NM_000256.3(MYBPC3):c.651C>T (p.Ser217=)
|
rs1199611247
|
0.00001
|
|
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)
|
rs121913651
|
0.00001
|
|
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)
|
rs121913626
|
0.00001
|
|
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys)
|
rs727504240
|
0.00001
|
|
NM_000257.4(MYH7):c.2137A>G (p.Ile713Val)
|
rs1339799654
|
0.00001
|
|
NM_000257.4(MYH7):c.2424-5T>C
|
rs397516146
|
0.00001
|
|
NM_000257.4(MYH7):c.3147G>A (p.Glu1049=)
|
rs1216521596
|
0.00001
|
|
NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu)
|
rs546586969
|
0.00001
|
|
NM_000257.4(MYH7):c.3975G>A (p.Ala1325=)
|
rs1424491117
|
0.00001
|
|
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys)
|
rs727503246
|
0.00001
|
|
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp)
|
rs727503278
|
0.00001
|
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
|
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=)
|
rs763538103
|
0.00001
|
|
NM_000257.4(MYH7):c.5178G>A (p.Gln1726=)
|
rs747252861
|
0.00001
|
|
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
|
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)
|
rs45516091
|
0.00001
|
|
NM_000257.4(MYH7):c.733-3C>T
|
rs765068619
|
0.00001
|
|
NM_000268.4(NF2):c.1007G>A (p.Arg336Gln)
|
rs587778554
|
0.00001
|
|
NM_000268.4(NF2):c.1232G>A (p.Arg411His)
|
rs201214090
|
0.00001
|
|
NM_000268.4(NF2):c.1271G>A (p.Arg424His)
|
rs751182657
|
0.00001
|
|
NM_000268.4(NF2):c.1273C>T (p.Leu425=)
|
rs142446775
|
0.00001
|
|
NM_000268.4(NF2):c.1290G>A (p.Val430=)
|
rs756041768
|
0.00001
|
|
NM_000268.4(NF2):c.1397G>A (p.Arg466Gln)
|
rs866689896
|
0.00001
|
|
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu)
|
rs766339217
|
0.00001
|
|
NM_000268.4(NF2):c.1446+5G>A
|
rs367829184
|
0.00001
|
|
NM_000268.4(NF2):c.1446G>A (p.Pro482=)
|
rs753751373
|
0.00001
|
|
NM_000268.4(NF2):c.1459A>G (p.Ile487Val)
|
rs147506929
|
0.00001
|
|
NM_000268.4(NF2):c.1469C>T (p.Pro490Leu)
|
rs765100922
|
0.00001
|
|
NM_000268.4(NF2):c.1502T>C (p.Ile501Thr)
|
rs767682136
|
0.00001
|
|
NM_000268.4(NF2):c.1522G>A (p.Asp508Asn)
|
rs749326764
|
0.00001
|
|
NM_000268.4(NF2):c.1586T>C (p.Met529Thr)
|
rs780818183
|
0.00001
|
|
NM_000268.4(NF2):c.1688A>G (p.Asn563Ser)
|
rs768303416
|
0.00001
|
|
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)
|
rs1049732514
|
0.00001
|
|
NM_000268.4(NF2):c.1752C>T (p.Ser584=)
|
rs370999558
|
0.00001
|
|
NM_000268.4(NF2):c.1765G>A (p.Val589Met)
|
rs1293851600
|
0.00001
|
|
NM_000268.4(NF2):c.182T>C (p.Phe61Ser)
|
rs1286915234
|
0.00001
|
|
NM_000268.4(NF2):c.595G>A (p.Ala199Thr)
|
rs1261707371
|
0.00001
|
|
NM_000268.4(NF2):c.600-13G>A
|
rs374509697
|
0.00001
|
|
NM_000268.4(NF2):c.685G>T (p.Gly229Cys)
|
rs1028670573
|
0.00001
|
|
NM_000268.4(NF2):c.903C>T (p.Ile301=)
|
rs199957176
|
0.00001
|
|
NM_000268.4(NF2):c.932G>A (p.Arg311Lys)
|
rs1169276398
|
0.00001
|
|
NM_000268.4(NF2):c.983A>T (p.Glu328Val)
|
rs200372028
|
0.00001
|
|
NM_000314.8(PTEN):c.1001A>G (p.Asn334Ser)
|
rs1206321984
|
0.00001
|
|
NM_000314.8(PTEN):c.1026+6T>A
|
rs1274425509
|
0.00001
|
|
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr)
|
rs876661264
|
0.00001
|
|
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile)
|
rs758542021
|
0.00001
|
|
NM_000314.8(PTEN):c.1115A>G (p.Asn372Ser)
|
rs1370349057
|
0.00001
|
|
NM_000314.8(PTEN):c.114T>G (p.Pro38=)
|
rs748040144
|
0.00001
|
|
NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser)
|
rs786203911
|
0.00001
|
|
NM_000314.8(PTEN):c.1206A>C (p.Lys402Asn)
|
rs1064796017
|
0.00001
|
|
NM_000314.8(PTEN):c.206A>G (p.Asn69Ser)
|
rs786204922
|
0.00001
|
|
NM_000314.8(PTEN):c.321T>C (p.Asp107=)
|
rs372876243
|
0.00001
|
|
NM_000314.8(PTEN):c.349A>C (p.Asn117His)
|
rs771310592
|
0.00001
|
|
NM_000314.8(PTEN):c.440A>G (p.Lys147Arg)
|
rs757087471
|
0.00001
|
|
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys)
|
rs757498880
|
0.00001
|
|
NM_000314.8(PTEN):c.625G>A (p.Gly209Arg)
|
rs765433422
|
0.00001
|
|
NM_000314.8(PTEN):c.659T>C (p.Leu220Pro)
|
rs141373793
|
0.00001
|
|
NM_000314.8(PTEN):c.673T>C (p.Tyr225His)
|
rs876659433
|
0.00001
|
|
NM_000314.8(PTEN):c.681C>T (p.Ser227=)
|
rs768662424
|
0.00001
|
|
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp)
|
rs786201730
|
0.00001
|
|
NM_000314.8(PTEN):c.80-11A>G
|
rs776590293
|
0.00001
|
|
NM_000314.8(PTEN):c.823G>A (p.Val275Ile)
|
rs1410198544
|
0.00001
|
|
NM_000314.8(PTEN):c.841C>G (p.Pro281Ala)
|
rs750705904
|
0.00001
|
|
NM_000314.8(PTEN):c.887G>A (p.Cys296Tyr)
|
rs1060500121
|
0.00001
|
|
NM_000314.8(PTEN):c.901G>A (p.Asp301Asn)
|
rs758644748
|
0.00001
|
|
NM_000314.8(PTEN):c.908T>G (p.Ile303Ser)
|
rs772018727
|
0.00001
|
|
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)
|
rs1064794436
|
0.00001
|
|
NM_000314.8(PTEN):c.923G>A (p.Arg308His)
|
rs786201507
|
0.00001
|
|
NM_000321.3(RB1):c.-15C>T
|
rs780264811
|
0.00001
|
|
NM_000321.3(RB1):c.104A>T (p.Gln35Leu)
|
rs1480581747
|
0.00001
|
|
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln)
|
rs767011440
|
0.00001
|
|
NM_000321.3(RB1):c.1128-5del
|
rs886038280
|
0.00001
|
|
NM_000321.3(RB1):c.1139A>G (p.Asn380Ser)
|
rs1470523018
|
0.00001
|
|
NM_000321.3(RB1):c.1163T>G (p.Ile388Ser)
|
rs373623059
|
0.00001
|
|
NM_000321.3(RB1):c.1198C>G (p.Leu400Val)
|
rs535576919
|
0.00001
|
|
NM_000321.3(RB1):c.1215+3A>G
|
rs1254191370
|
0.00001
|
|
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu)
|
rs748635133
|
0.00001
|
|
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys)
|
rs759079385
|
0.00001
|
|
NM_000321.3(RB1):c.1389A>G (p.Ser463=)
|
rs1486168292
|
0.00001
|
|
NM_000321.3(RB1):c.1468G>A (p.Ala490Thr)
|
rs201458896
|
0.00001
|
|
NM_000321.3(RB1):c.1486G>T (p.Ala496Ser)
|
rs1366675428
|
0.00001
|
|
NM_000321.3(RB1):c.1494T>C (p.Tyr498=)
|
rs768929728
|
0.00001
|
|
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln)
|
rs773116120
|
0.00001
|
|
NM_000321.3(RB1):c.1696-4A>G
|
rs143685082
|
0.00001
|
|
NM_000321.3(RB1):c.1736G>A (p.Arg579Gln)
|
rs751560923
|
0.00001
|
|
NM_000321.3(RB1):c.1750G>T (p.Asp584Tyr)
|
rs1343212063
|
0.00001
|
|
NM_000321.3(RB1):c.1815G>A (p.Met605Ile)
|
rs1472724809
|
0.00001
|
|
NM_000321.3(RB1):c.1876G>A (p.Ala626Thr)
|
rs747147942
|
0.00001
|
|
NM_000321.3(RB1):c.1992A>T (p.Thr664=)
|
rs755417160
|
0.00001
|
|
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu)
|
rs3092903
|
0.00001
|
|
NM_000321.3(RB1):c.2198A>T (p.His733Leu)
|
rs778503152
|
0.00001
|
|
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser)
|
rs1167280920
|
0.00001
|
|
NM_000321.3(RB1):c.2381G>C (p.Ser794Thr)
|
rs1240896329
|
0.00001
|
|
NM_000321.3(RB1):c.238A>G (p.Lys80Glu)
|
rs751870680
|
0.00001
|
|
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)
|
rs374523971
|
0.00001
|
|
NM_000321.3(RB1):c.2491A>G (p.Ile831Val)
|
rs761068783
|
0.00001
|
|
NM_000321.3(RB1):c.2521-7T>A
|
rs371150038
|
0.00001
|
|
NM_000321.3(RB1):c.2615T>C (p.Leu872Pro)
|
rs1470516350
|
0.00001
|
|
NM_000321.3(RB1):c.265-6_265-4del
|
rs780733860
|
0.00001
|
|
NM_000321.3(RB1):c.272A>G (p.Tyr91Cys)
|
rs750850735
|
0.00001
|
|
NM_000321.3(RB1):c.339G>A (p.Met113Ile)
|
rs1593434250
|
0.00001
|
|
NM_000321.3(RB1):c.341C>T (p.Ser114Leu)
|
rs139673557
|
0.00001
|
|
NM_000321.3(RB1):c.342G>A (p.Ser114=)
|
rs748093967
|
0.00001
|
|
NM_000321.3(RB1):c.381-11T>C
|
rs756363252
|
0.00001
|
|
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)
|
rs764881599
|
0.00001
|
|
NM_000321.3(RB1):c.536G>T (p.Ser179Ile)
|
rs1566187849
|
0.00001
|
|
NM_000321.3(RB1):c.539C>T (p.Ser180Leu)
|
rs367654488
|
0.00001
|
|
NM_000321.3(RB1):c.560C>T (p.Ser187Phe)
|
rs770277291
|
0.00001
|
|
NM_000321.3(RB1):c.634C>A (p.Leu212Met)
|
rs147085238
|
0.00001
|
|
NM_000321.3(RB1):c.694C>T (p.Pro232Ser)
|
rs1195873978
|
0.00001
|
|
NM_000321.3(RB1):c.83C>G (p.Pro28Arg)
|
rs776175164
|
0.00001
|
|
NM_000321.3(RB1):c.898A>C (p.Met300Leu)
|
rs1060503086
|
0.00001
|
|
NM_000321.3(RB1):c.89A>C (p.Glu30Ala)
|
rs1482284498
|
0.00001
|
|
NM_000321.3(RB1):c.916G>A (p.Val306Ile)
|
rs773169052
|
0.00001
|
|
NM_000335.5(SCN5A):c.1373G>A (p.Arg458His)
|
rs373692157
|
0.00001
|
|
NM_000335.5(SCN5A):c.1595T>G (p.Phe532Cys)
|
rs199473573
|
0.00001
|
|
NM_000335.5(SCN5A):c.2114C>T (p.Ser705Phe)
|
rs199473148
|
0.00001
|
|
NM_000335.5(SCN5A):c.3509-3T>C
|
rs924305428
|
0.00001
|
|
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr)
|
rs199473595
|
0.00001
|
|
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr)
|
rs199473073
|
0.00001
|
|
NM_000363.5(TNNI3):c.15C>A (p.Ser5Arg)
|
rs989588363
|
0.00001
|
|
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp)
|
rs730881071
|
0.00001
|
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
|
NM_000368.5(TSC1):c.1002G>A (p.Ser334=)
|
rs200820603
|
0.00001
|
|
NM_000368.5(TSC1):c.1015A>T (p.Thr339Ser)
|
rs570809282
|
0.00001
|
|
NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu)
|
rs1588324106
|
0.00001
|
|
NM_000368.5(TSC1):c.1050T>C (p.Ser350=)
|
rs150777389
|
0.00001
|
|
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr)
|
rs876660024
|
0.00001
|
|
NM_000368.5(TSC1):c.1078A>G (p.Thr360Ala)
|
rs201738258
|
0.00001
|
|
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)
|
rs397514864
|
0.00001
|
|
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys)
|
rs1309560054
|
0.00001
|
|
NM_000368.5(TSC1):c.1116T>C (p.Pro372=)
|
rs1311647964
|
0.00001
|
|
NM_000368.5(TSC1):c.1190C>T (p.Pro397Leu)
|
rs766487204
|
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.1219G>A (p.Val407Met)
|
rs769331772
|
0.00001
|
|
NM_000368.5(TSC1):c.121C>T (p.Leu41Phe)
|
rs118203334
|
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.130A>G (p.Thr44Ala)
|
rs1399266964
|
0.00001
|
|
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val)
|
rs199800297
|
0.00001
|
|
NM_000368.5(TSC1):c.133T>C (p.Leu45=)
|
rs755226092
|
0.00001
|
|
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala)
|
rs371093730
|
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.1439-10T>A
|
rs1060504852
|
0.00001
|
|
NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln)
|
rs371908551
|
0.00001
|
|
NM_000368.5(TSC1):c.1571C>T (p.Ser524Phe)
|
rs1276296733
|
0.00001
|
|
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)
|
rs368481360
|
0.00001
|
|
NM_000368.5(TSC1):c.1590C>T (p.Ser530=)
|
rs762424091
|
0.00001
|
|
NM_000368.5(TSC1):c.1591G>A (p.Val531Met)
|
rs377279170
|
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.1636G>T (p.Asp546Tyr)
|
rs774671298
|
0.00001
|
|
NM_000368.5(TSC1):c.1640C>T (p.Thr547Ile)
|
rs769040084
|
0.00001
|
|
NM_000368.5(TSC1):c.166C>T (p.Pro56Ser)
|
rs1330089369
|
0.00001
|
|
NM_000368.5(TSC1):c.1674C>T (p.Pro558=)
|
rs878853962
|
0.00001
|
|
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met)
|
rs775869914
|
0.00001
|
|
NM_000368.5(TSC1):c.1776G>A (p.Thr592=)
|
rs118203580
|
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.1818T>A (p.His606Gln)
|
rs758769193
|
0.00001
|
|
NM_000368.5(TSC1):c.1869G>A (p.Lys623=)
|
rs778556382
|
0.00001
|
|
NM_000368.5(TSC1):c.1882T>C (p.Leu628=)
|
rs375534013
|
0.00001
|
|
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala)
|
rs1485955306
|
0.00001
|
|
NM_000368.5(TSC1):c.1943T>C (p.Val648Ala)
|
rs771341361
|
0.00001
|
|
NM_000368.5(TSC1):c.1954C>T (p.Leu652=)
|
rs747452647
|
0.00001
|
|
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr)
|
rs914628341
|
0.00001
|
|
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg)
|
rs1419720341
|
0.00001
|
|
NM_000368.5(TSC1):c.2023G>C (p.Asp675His)
|
rs768189353
|
0.00001
|
|
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg)
|
rs748901883
|
0.00001
|
|
NM_000368.5(TSC1):c.2038G>A (p.Gly680Arg)
|
rs757322533
|
0.00001
|
|
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu)
|
rs118203623
|
0.00001
|
|
NM_000368.5(TSC1):c.2066G>A (p.Arg689His)
|
rs200827913
|
0.00001
|
|
NM_000368.5(TSC1):c.2085G>A (p.Leu695=)
|
rs767518902
|
0.00001
|
|
NM_000368.5(TSC1):c.211-15C>G
|
rs1459098612
|
0.00001
|
|
NM_000368.5(TSC1):c.2195A>G (p.His732Arg)
|
rs878853964
|
0.00001
|
|
NM_000368.5(TSC1):c.2196T>C (p.His732=)
|
rs776441369
|
0.00001
|
|
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr)
|
rs760208449
|
0.00001
|
|
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)
|
rs761281095
|
0.00001
|
|
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg)
|
rs118203699
|
0.00001
|
|
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)
|
rs770381040
|
0.00001
|
|
NM_000368.5(TSC1):c.2604C>T (p.Asn868=)
|
rs147163264
|
0.00001
|
|
NM_000368.5(TSC1):c.2679C>T (p.Ser893=)
|
rs374311456
|
0.00001
|
|
NM_000368.5(TSC1):c.2722C>T (p.Arg908Trp)
|
rs748845915
|
0.00001
|
|
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln)
|
rs780115763
|
0.00001
|
|
NM_000368.5(TSC1):c.2781G>A (p.Lys927=)
|
rs118203733
|
0.00001
|
|
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr)
|
rs751362258
|
0.00001
|
|
NM_000368.5(TSC1):c.2867A>G (p.Gln956Arg)
|
rs1212768461
|
0.00001
|
|
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His)
|
rs767946427
|
0.00001
|
|
NM_000368.5(TSC1):c.289A>G (p.Ile97Val)
|
rs138541569
|
0.00001
|
|
NM_000368.5(TSC1):c.2910G>A (p.Glu970=)
|
rs762627301
|
0.00001
|
|
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu)
|
rs796053448
|
0.00001
|
|
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)
|
rs397514859
|
0.00001
|
|
NM_000368.5(TSC1):c.2964A>G (p.Ala988=)
|
rs1057520482
|
0.00001
|
|
NM_000368.5(TSC1):c.2982C>T (p.Asp994=)
|
rs199919348
|
0.00001
|
|
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg)
|
rs780224196
|
0.00001
|
|
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr)
|
rs764738792
|
0.00001
|
|
NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu)
|
rs796053449
|
0.00001
|
|
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp)
|
rs375394001
|
0.00001
|
|
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)
|
rs796053462
|
0.00001
|
|
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile)
|
rs587778726
|
0.00001
|
|
NM_000368.5(TSC1):c.3194C>T (p.Thr1065Met)
|
rs753388676
|
0.00001
|
|
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=)
|
rs140622357
|
0.00001
|
|
NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys)
|
rs779599439
|
0.00001
|
|
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)
|
rs118203750
|
0.00001
|
|
NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg)
|
rs876660132
|
0.00001
|
|
NM_000368.5(TSC1):c.331C>T (p.Pro111Ser)
|
rs748669519
|
0.00001
|
|
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=)
|
rs118203752
|
0.00001
|
|
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser)
|
rs118203753
|
0.00001
|
|
NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro)
|
rs762641110
|
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.3408T>A (p.Asp1136Glu)
|
rs751398082
|
0.00001
|
|
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro)
|
rs764018144
|
0.00001
|
|
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu)
|
rs751126355
|
0.00001
|
|
NM_000368.5(TSC1):c.3426C>A (p.Pro1142=)
|
rs758286878
|
0.00001
|
|
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)
|
rs397514806
|
0.00001
|
|
NM_000368.5(TSC1):c.376G>A (p.Val126Ile)
|
rs397514843
|
0.00001
|
|
NM_000368.5(TSC1):c.514G>A (p.Val172Met)
|
rs952813051
|
0.00001
|
|
NM_000368.5(TSC1):c.518C>T (p.Ala173Val)
|
rs777484049
|
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.527A>G (p.Tyr176Cys)
|
rs1060503209
|
0.00001
|
|
NM_000368.5(TSC1):c.546C>T (p.Ala182=)
|
rs1245007527
|
0.00001
|
|
NM_000368.5(TSC1):c.60T>G (p.Gly20=)
|
rs1293816362
|
0.00001
|
|
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp)
|
rs749030456
|
0.00001
|
|
NM_000368.5(TSC1):c.651A>G (p.Glu217=)
|
rs766250769
|
0.00001
|
|
NM_000368.5(TSC1):c.738-10C>A
|
rs768158324
|
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.782A>G (p.Lys261Arg)
|
rs371225009
|
0.00001
|
|
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)
|
rs878853968
|
0.00001
|
|
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys)
|
rs770653972
|
0.00001
|
|
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala)
|
rs796053456
|
0.00001
|
|
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe)
|
rs766317920
|
0.00001
|
|
NM_000368.5(TSC1):c.944C>G (p.Ser315Cys)
|
rs1332978347
|
0.00001
|
|
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp)
|
rs535868591
|
0.00001
|
|
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln)
|
rs375956049
|
0.00001
|
|
NM_000368.5(TSC1):c.997C>T (p.Pro333Ser)
|
rs1057520994
|
0.00001
|
|
NM_000384.3(APOB):c.403A>G (p.Ile135Val)
|
rs769296548
|
0.00001
|
|
NM_000455.5(STK11):c.-1C>T
|
rs759284466
|
0.00001
|
|
NM_000455.5(STK11):c.1012G>A (p.Val338Met)
|
rs587782302
|
0.00001
|
|
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser)
|
rs375431906
|
0.00001
|
|
NM_000455.5(STK11):c.1040C>T (p.Ala347Val)
|
rs587782058
|
0.00001
|
|
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)
|
rs556651007
|
0.00001
|
|
NM_000455.5(STK11):c.1072G>A (p.Asp358Asn)
|
rs587778696
|
0.00001
|
|
NM_000455.5(STK11):c.1117C>T (p.Pro373Ser)
|
rs1287849806
|
0.00001
|
|
NM_000455.5(STK11):c.1129G>A (p.Ala377Thr)
|
rs768870802
|
0.00001
|
|
NM_000455.5(STK11):c.1135C>A (p.His379Asn)
|
rs762124698
|
0.00001
|
|
NM_000455.5(STK11):c.1142G>C (p.Gly381Ala)
|
rs765419233
|
0.00001
|
|
NM_000455.5(STK11):c.1145A>G (p.Gln382Arg)
|
rs985937027
|
0.00001
|
|
NM_000455.5(STK11):c.1148G>A (p.Arg383His)
|
rs730881990
|
0.00001
|
|
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp)
|
rs752015385
|
0.00001
|
|
NM_000455.5(STK11):c.1153G>A (p.Gly385Ser)
|
rs763586612
|
0.00001
|
|
NM_000455.5(STK11):c.1167C>G (p.Ala389=)
|
rs547919101
|
0.00001
|
|
NM_000455.5(STK11):c.1174A>G (p.Met392Val)
|
rs565993396
|
0.00001
|
|
NM_000455.5(STK11):c.1175T>C (p.Met392Thr)
|
rs876661013
|
0.00001
|
|
NM_000455.5(STK11):c.1190C>T (p.Ala397Val)
|
rs558040549
|
0.00001
|
|
NM_000455.5(STK11):c.1217C>T (p.Ala406Val)
|
rs748202003
|
0.00001
|
|
NM_000455.5(STK11):c.1222G>A (p.Gly408Ser)
|
rs749463771
|
0.00001
|
|
NM_000455.5(STK11):c.1235A>G (p.Asn412Ser)
|
rs786201309
|
0.00001
|
|
NM_000455.5(STK11):c.1249G>T (p.Ala417Ser)
|
rs587782876
|
0.00001
|
|
NM_000455.5(STK11):c.1259C>T (p.Ala420Val)
|
rs369033659
|
0.00001
|
|
NM_000455.5(STK11):c.1274G>A (p.Arg425His)
|
rs730881992
|
0.00001
|
|
NM_000455.5(STK11):c.1283C>T (p.Ser428Leu)
|
rs587781537
|
0.00001
|
|
NM_000455.5(STK11):c.291-13C>T
|
rs1332978515
|
0.00001
|
|
NM_000455.5(STK11):c.301C>G (p.Leu101Val)
|
rs587780716
|
0.00001
|
|
NM_000455.5(STK11):c.397G>A (p.Val133Met)
|
rs567769257
|
0.00001
|
|
NM_000455.5(STK11):c.440G>A (p.Arg147His)
|
rs587780717
|
0.00001
|
|
NM_000455.5(STK11):c.449T>C (p.Val150Ala)
|
rs587781802
|
0.00001
|
|
NM_000455.5(STK11):c.464+3G>A
|
rs1060499956
|
0.00001
|
|
NM_000455.5(STK11):c.464+4C>T
|
rs373167735
|
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.71C>T (p.Thr24Met)
|
rs770503805
|
0.00001
|
|
NM_000455.5(STK11):c.720G>A (p.Ser240=)
|
rs759743897
|
0.00001
|
|
NM_000455.5(STK11):c.841C>A (p.Pro281Thr)
|
rs377208033
|
0.00001
|
|
NM_000455.5(STK11):c.863-4T>C
|
rs778853572
|
0.00001
|
|
NM_000455.5(STK11):c.902G>A (p.Arg301Gln)
|
rs370222210
|
0.00001
|
|
NM_000455.5(STK11):c.947C>G (p.Ala316Gly)
|
rs751709130
|
0.00001
|
|
NM_000455.5(STK11):c.94A>G (p.Thr32Ala)
|
rs755210880
|
0.00001
|
|
NM_000455.5(STK11):c.976C>A (p.Pro326Thr)
|
rs771632414
|
0.00001
|
|
NM_000455.5(STK11):c.991C>T (p.Arg331Trp)
|
rs876658594
|
0.00001
|
|
NM_000465.4(BARD1):c.1007G>A (p.Cys336Tyr)
|
rs779527817
|
0.00001
|
|
NM_000465.4(BARD1):c.1013C>A (p.Thr338Asn)
|
rs587781313
|
0.00001
|
|
NM_000465.4(BARD1):c.1016G>A (p.Ser339Asn)
|
rs201261729
|
0.00001
|
|
NM_000465.4(BARD1):c.1025G>A (p.Ser342Asn)
|
rs760950550
|
0.00001
|
|
NM_000465.4(BARD1):c.1032T>A (p.Ser344Arg)
|
rs1060501293
|
0.00001
|
|
NM_000465.4(BARD1):c.1055T>C (p.Val352Ala)
|
rs773918507
|
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.1192A>G (p.Thr398Ala)
|
rs1297661047
|
0.00001
|
|
NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter)
|
rs796666047
|
0.00001
|
|
NM_000465.4(BARD1):c.1346A>G (p.Gln449Arg)
|
rs916069875
|
0.00001
|
|
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)
|
rs587781874
|
0.00001
|
|
NM_000465.4(BARD1):c.1508A>G (p.Lys503Arg)
|
rs775002804
|
0.00001
|
|
NM_000465.4(BARD1):c.161C>G (p.Thr54Ser)
|
rs879253878
|
0.00001
|
|
NM_000465.4(BARD1):c.1761G>C (p.Glu587Asp)
|
rs1060501284
|
0.00001
|
|
NM_000465.4(BARD1):c.1847G>A (p.Ser616Asn)
|
rs1475259063
|
0.00001
|
|
NM_000465.4(BARD1):c.2002-12T>G
|
rs587780027
|
0.00001
|
|
NM_000465.4(BARD1):c.2054A>G (p.His685Arg)
|
rs368488821
|
0.00001
|
|
NM_000465.4(BARD1):c.2057A>G (p.His686Arg)
|
rs864622380
|
0.00001
|
|
NM_000465.4(BARD1):c.2146A>G (p.Thr716Ala)
|
rs878854006
|
0.00001
|
|
NM_000465.4(BARD1):c.2153A>G (p.Asn718Ser)
|
rs773166130
|
0.00001
|
|
NM_000465.4(BARD1):c.2155A>G (p.Thr719Ala)
|
rs771852699
|
0.00001
|
|
NM_000465.4(BARD1):c.2181T>G (p.Asp727Glu)
|
rs876660554
|
0.00001
|
|
NM_000465.4(BARD1):c.2224T>A (p.Leu742Met)
|
rs876659765
|
0.00001
|
|
NM_000465.4(BARD1):c.2233T>G (p.Tyr745Asp)
|
rs771109295
|
0.00001
|
|
NM_000465.4(BARD1):c.2248G>A (p.Val750Ile)
|
rs34677017
|
0.00001
|
|
NM_000465.4(BARD1):c.267G>A (p.Pro89=)
|
rs756165637
|
0.00001
|
|
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter)
|
rs758972589
|
0.00001
|
|
NM_000465.4(BARD1):c.335G>A (p.Arg112Gln)
|
rs587781591
|
0.00001
|
|
NM_000465.4(BARD1):c.382C>T (p.Pro128Ser)
|
rs878854011
|
0.00001
|
|
NM_000465.4(BARD1):c.420G>T (p.Lys140Asn)
|
rs758749603
|
0.00001
|
|
NM_000465.4(BARD1):c.465A>G (p.Arg155=)
|
rs730881413
|
0.00001
|
|
NM_000465.4(BARD1):c.520A>C (p.Ser174Arg)
|
rs1060501295
|
0.00001
|
|
NM_000465.4(BARD1):c.592G>T (p.Ala198Ser)
|
rs748834249
|
0.00001
|
|
NM_000465.4(BARD1):c.616C>A (p.Gln206Lys)
|
rs1453894904
|
0.00001
|
|
NM_000465.4(BARD1):c.656A>G (p.Asn219Ser)
|
rs876660672
|
0.00001
|
|
NM_000465.4(BARD1):c.760A>C (p.Ile254Leu)
|
rs879253984
|
0.00001
|
|
NM_000465.4(BARD1):c.835T>C (p.Ser279Pro)
|
rs587781456
|
0.00001
|
|
NM_000465.4(BARD1):c.928T>G (p.Ser310Ala)
|
rs886041139
|
0.00001
|
|
NM_000465.4(BARD1):c.933G>T (p.Lys311Asn)
|
rs1060501297
|
0.00001
|
|
NM_000465.4(BARD1):c.952A>G (p.Asn318Asp)
|
rs565582076
|
0.00001
|
|
NM_000465.4(BARD1):c.95G>T (p.Gly32Val)
|
rs587782675
|
0.00001
|
|
NM_000465.4(BARD1):c.965G>A (p.Arg322His)
|
rs774251286
|
0.00001
|
|
NM_000465.4(BARD1):c.976A>G (p.Asn326Asp)
|
rs587780038
|
0.00001
|
|
NM_000465.4(BARD1):c.986C>G (p.Ser329Cys)
|
rs905626929
|
0.00001
|
|
NM_000527.4(LDLR):c.313+1G>A
|
rs112029328
|
0.00001
|
|
NM_000527.5(LDLR):c.-101T>C
|
rs747068848
|
0.00001
|
|
NM_000527.5(LDLR):c.-120C>T
|
rs875989886
|
0.00001
|
|
NM_000527.5(LDLR):c.-13A>G
|
rs376011618
|
0.00001
|
|
NM_000527.5(LDLR):c.-152C>T
|
rs879254367
|
0.00001
|
|
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp)
|
rs869320650
|
0.00001
|
|
NM_000527.5(LDLR):c.1010A>G (p.Glu337Gly)
|
rs2077362818
|
0.00001
|
|
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)
|
rs193922566
|
0.00001
|
|
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val)
|
rs879254776
|
0.00001
|
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
rs879254803
|
0.00001
|
|
NM_000527.5(LDLR):c.1153C>G (p.Leu385Val)
|
rs879254808
|
0.00001
|
|
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr)
|
rs1402951356
|
0.00001
|
|
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)
|
rs730882099
|
0.00001
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
rs121908043
|
0.00001
|
|
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789
|
0.00001
|
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
|
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)
|
rs748554592
|
0.00001
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
rs570942190
|
0.00001
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
rs28942078
|
0.00001
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
rs28942079
|
0.00001
|
|
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met)
|
rs745343524
|
0.00001
|
|
NM_000527.5(LDLR):c.1302G>A (p.Thr434=)
|
rs534782075
|
0.00001
|
|
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)
|
rs779732323
|
0.00001
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
0.00001
|
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
|
NM_000527.5(LDLR):c.1359-1G>A
|
rs139617694
|
0.00001
|
|
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro)
|
rs200143634
|
0.00001
|
|
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys)
|
rs193922568
|
0.00001
|
|
NM_000527.5(LDLR):c.1384G>A (p.Val462Ile)
|
rs750363970
|
0.00001
|
|
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn)
|
rs730882101
|
0.00001
|
|
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
|
rs778284147
|
0.00001
|
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
|
NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu)
|
rs201967266
|
0.00001
|
|
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn)
|
rs780316072
|
0.00001
|
|
NM_000527.5(LDLR):c.1435C>G (p.Leu479Val)
|
rs1254928151
|
0.00001
|
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
rs879254913
|
0.00001
|
|
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)
|
rs755667663
|
0.00001
|
|
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)
|
rs755154048
|
0.00001
|
|
NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu)
|
rs763884010
|
0.00001
|
|
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106
|
0.00001
|
|
NM_000527.5(LDLR):c.1587-11C>T
|
rs201957233
|
0.00001
|
|
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys)
|
rs2077458389
|
0.00001
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
rs769370816
|
0.00001
|
|
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu)
|
rs879254976
|
0.00001
|
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
|
NM_000527.5(LDLR):c.1764C>T (p.Ile588=)
|
rs778595540
|
0.00001
|
|
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp)
|
rs1410295777
|
0.00001
|
|
NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser)
|
rs879255034
|
0.00001
|
|
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047
|
0.00001
|
|
NM_000527.5(LDLR):c.1846-1G>A
|
rs879255051
|
0.00001
|
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
|
NM_000527.5(LDLR):c.190+4A>T
|
rs769446356
|
0.00001
|
|
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser)
|
rs764550980
|
0.00001
|
|
NM_000527.5(LDLR):c.1911C>T (p.Ser637=)
|
rs373570349
|
0.00001
|
|
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
|
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)
|
rs762815611
|
0.00001
|
|
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr)
|
rs1182317785
|
0.00001
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
0.00001
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
rs121908031
|
0.00001
|
|
NM_000527.5(LDLR):c.2097G>A (p.Pro699=)
|
rs370835628
|
0.00001
|
|
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro)
|
rs193922570
|
0.00001
|
|
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn)
|
rs879255142
|
0.00001
|
|
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg)
|
rs766903209
|
0.00001
|
|
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys)
|
rs879255149
|
0.00001
|
|
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)
|
rs1057516127
|
0.00001
|
|
NM_000527.5(LDLR):c.2171C>T (p.Thr724Ile)
|
rs879255154
|
0.00001
|
|
NM_000527.5(LDLR):c.2205C>T (p.Ala735=)
|
rs763213863
|
0.00001
|
|
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)
|
rs547268730
|
0.00001
|
|
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile)
|
rs767546791
|
0.00001
|
|
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)
|
rs879254439
|
0.00001
|
|
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr)
|
rs759440817
|
0.00001
|
|
NM_000527.5(LDLR):c.2390-3C>T
|
rs755033580
|
0.00001
|
|
NM_000527.5(LDLR):c.2391G>C (p.Val797=)
|
rs752846235
|
0.00001
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
rs730882078
|
0.00001
|
|
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn)
|
rs1399689294
|
0.00001
|
|
NM_000527.5(LDLR):c.2529C>T (p.Asp843=)
|
rs374635484
|
0.00001
|
|
NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser)
|
rs1555809614
|
0.00001
|
|
NM_000527.5(LDLR):c.2548-12A>G
|
rs771336748
|
0.00001
|
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
|
NM_000527.5(LDLR):c.299A>T (p.Asp100Val)
|
rs879254460
|
0.00001
|
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
|
NM_000527.5(LDLR):c.314-2A>C
|
rs879254470
|
0.00001
|
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
|
NM_000527.5(LDLR):c.351C>T (p.His117=)
|
rs200258458
|
0.00001
|
|
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)
|
rs730882080
|
0.00001
|
|
NM_000527.5(LDLR):c.378C>T (p.Phe126=)
|
rs762139262
|
0.00001
|
|
NM_000527.5(LDLR):c.388T>A (p.Ser130Thr)
|
rs879254508
|
0.00001
|
|
NM_000527.5(LDLR):c.402C>T (p.Cys134=)
|
rs879254515
|
0.00001
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
rs748944640
|
0.00001
|
|
NM_000527.5(LDLR):c.447T>C (p.Gly149=)
|
rs765386678
|
0.00001
|
|
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro)
|
rs763233960
|
0.00001
|
|
NM_000527.5(LDLR):c.470G>A (p.Ser157Asn)
|
rs1555803280
|
0.00001
|
|
NM_000527.5(LDLR):c.48C>A (p.Leu16=)
|
rs565675103
|
0.00001
|
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
|
NM_000527.5(LDLR):c.531G>A (p.Ser177=)
|
rs555158224
|
0.00001
|
|
NM_000527.5(LDLR):c.543G>A (p.Pro181=)
|
rs766577671
|
0.00001
|
|
NM_000527.5(LDLR):c.565G>C (p.Val189Leu)
|
rs370820135
|
0.00001
|
|
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)
|
rs879254600
|
0.00001
|
|
NM_000527.5(LDLR):c.631C>T (p.His211Tyr)
|
rs771917370
|
0.00001
|
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
|
NM_000527.5(LDLR):c.644G>A (p.Arg215His)
|
rs753319170
|
0.00001
|
|
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906
|
0.00001
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
0.00001
|
|
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
|
rs121908035
|
0.00001
|
|
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys)
|
rs879254657
|
0.00001
|
|
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys)
|
rs1208667598
|
0.00001
|
|
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667
|
0.00001
|
|
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)
|
rs121908040
|
0.00001
|
|
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly)
|
rs141681167
|
0.00001
|
|
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)
|
rs875989907
|
0.00001
|
|
NM_000527.5(LDLR):c.811G>A (p.Val271Ile)
|
rs749220643
|
0.00001
|
|
NM_000527.5(LDLR):c.818-15C>G
|
rs79433354
|
0.00001
|
|
NM_000527.5(LDLR):c.820del (p.Thr274fs)
|
rs751122998
|
0.00001
|
|
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
|
rs730882091
|
0.00001
|
|
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)
|
rs375495026
|
0.00001
|
|
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)
|
rs767618089
|
0.00001
|
|
NM_000527.5(LDLR):c.908G>A (p.Arg303Gln)
|
rs730882093
|
0.00001
|
|
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)
|
rs11547917
|
0.00001
|
|
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)
|
rs776421777
|
0.00001
|
|
NM_000527.5(LDLR):c.932A>C (p.Lys311Thr)
|
rs761765254
|
0.00001
|
|
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser)
|
rs730882094
|
0.00001
|
|
NM_000527.5(LDLR):c.981C>T (p.His327=)
|
rs1060499933
|
0.00001
|
|
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)
|
rs72558495
|
0.00001
|
|
NM_000531.6(OTC):c.10A>G (p.Asn4Asp)
|
rs1051365488
|
0.00001
|
|
NM_000531.6(OTC):c.147C>T (p.Thr49=)
|
rs144153859
|
0.00001
|
|
NM_000531.6(OTC):c.448A>T (p.Thr150Ser)
|
rs758684873
|
0.00001
|
|
NM_000531.6(OTC):c.556C>T (p.Leu186=)
|
rs1337833268
|
0.00001
|
|
NM_000531.6(OTC):c.68G>A (p.Arg23Gln)
|
rs148660170
|
0.00001
|
|
NM_000531.6(OTC):c.717+5G>A
|
rs747637190
|
0.00001
|
|
NM_000531.6(OTC):c.804G>C (p.Met268Ile)
|
rs1357402422
|
0.00001
|
|
NM_000535.7(PMS2):c.1037A>G (p.Gln346Arg)
|
rs752268571
|
0.00001
|
|
NM_000535.7(PMS2):c.1189G>A (p.Val397Ile)
|
rs573123885
|
0.00001
|
|
NM_000535.7(PMS2):c.1201G>C (p.Asp401His)
|
rs1284362486
|
0.00001
|
|
NM_000535.7(PMS2):c.1223C>T (p.Thr408Ile)
|
rs1347299632
|
0.00001
|
|
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr)
|
rs370752614
|
0.00001
|
|
NM_000535.7(PMS2):c.1252T>G (p.Ser418Ala)
|
rs1473720483
|
0.00001
|
|
NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln)
|
rs778482303
|
0.00001
|
|
NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro)
|
rs772659239
|
0.00001
|
|
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe)
|
rs748698776
|
0.00001
|
|
NM_000535.7(PMS2):c.1372A>C (p.Thr458Pro)
|
rs779306532
|
0.00001
|
|
NM_000535.7(PMS2):c.1384A>G (p.Ile462Val)
|
rs200116037
|
0.00001
|
|
NM_000535.7(PMS2):c.1397G>C (p.Gly466Ala)
|
rs1339878885
|
0.00001
|
|
NM_000535.7(PMS2):c.1417G>A (p.Glu473Lys)
|
rs786203427
|
0.00001
|
|
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser)
|
rs373114291
|
0.00001
|
|
NM_000535.7(PMS2):c.1430C>A (p.Ser477Tyr)
|
rs876661291
|
0.00001
|
|
NM_000535.7(PMS2):c.1439G>C (p.Gly480Ala)
|
rs373917897
|
0.00001
|
|
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val)
|
rs587779328
|
0.00001
|
|
NM_000535.7(PMS2):c.1551C>A (p.Ser517Arg)
|
rs587782479
|
0.00001
|
|
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)
|
rs376142390
|
0.00001
|
|
NM_000535.7(PMS2):c.1582G>A (p.Gly528Ser)
|
rs1354150928
|
0.00001
|
|
NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu)
|
rs1554297497
|
0.00001
|
|
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys)
|
rs557906137
|
0.00001
|
|
NM_000535.7(PMS2):c.164-11A>T
|
rs763662038
|
0.00001
|
|
NM_000535.7(PMS2):c.1642G>A (p.Asp548Asn)
|
rs374591423
|
0.00001
|
|
NM_000535.7(PMS2):c.1678T>A (p.Cys560Ser)
|
rs370455197
|
0.00001
|
|
NM_000535.7(PMS2):c.1686T>G (p.Phe562Leu)
|
rs764749700
|
0.00001
|
|
NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala)
|
rs762151417
|
0.00001
|
|
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)
|
rs770625733
|
0.00001
|
|
NM_000535.7(PMS2):c.1718C>A (p.Thr573Asn)
|
rs876660076
|
0.00001
|
|
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)
|
rs63750947
|
0.00001
|
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
|
NM_000535.7(PMS2):c.1798A>G (p.Met600Val)
|
rs1304634005
|
0.00001
|
|
NM_000535.7(PMS2):c.187G>A (p.Val63Met)
|
rs772216832
|
0.00001
|
|
NM_000535.7(PMS2):c.1906G>A (p.Ala636Thr)
|
rs876658863
|
0.00001
|
|
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)
|
rs760629688
|
0.00001
|
|
NM_000535.7(PMS2):c.1929G>T (p.Gln643His)
|
rs786203379
|
0.00001
|
|
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val)
|
rs587780047
|
0.00001
|
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
|
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)
|
rs777095030
|
0.00001
|
|
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu)
|
rs377259633
|
0.00001
|
|
NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn)
|
rs547715146
|
0.00001
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
0.00001
|
|
NM_000535.7(PMS2):c.354-5C>G
|
rs200591010
|
0.00001
|
|
NM_000535.7(PMS2):c.386C>T (p.Ala129Val)
|
rs752284380
|
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.598G>A (p.Val200Ile)
|
rs587778620
|
0.00001
|
|
NM_000535.7(PMS2):c.706-13T>C
|
rs730881918
|
0.00001
|
|
NM_000535.7(PMS2):c.803+4A>G
|
rs756312205
|
0.00001
|
|
NM_000535.7(PMS2):c.803+5G>A
|
rs939641251
|
0.00001
|
|
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
|
rs876659736
|
0.00001
|
|
NM_000535.7(PMS2):c.825A>T (p.Gln275His)
|
rs876659736
|
0.00001
|
|
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)
|
rs56203955
|
0.00001
|
|
NM_000535.7(PMS2):c.988+4A>G
|
rs763959308
|
0.00001
|
|
NM_000540.3(RYR1):c.10154C>T (p.Ala3385Val)
|
rs772566556
|
0.00001
|
|
NM_000540.3(RYR1):c.10317C>T (p.Gly3439=)
|
rs1174927393
|
0.00001
|
|
NM_000540.3(RYR1):c.103T>C (p.Cys35Arg)
|
rs193922747
|
0.00001
|
|
NM_000540.3(RYR1):c.10686+4T>C
|
rs1188156028
|
0.00001
|
|
NM_000540.3(RYR1):c.10768G>A (p.Glu3590Lys)
|
rs746611627
|
0.00001
|
|
NM_000540.3(RYR1):c.11193+2T>C
|
rs1971785665
|
0.00001
|
|
NM_000540.3(RYR1):c.11194-3C>T
|
rs758196929
|
0.00001
|
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
|
NM_000540.3(RYR1):c.1140G>A (p.Glu380=)
|
rs35189056
|
0.00001
|
|
NM_000540.3(RYR1):c.11590+1G>T
|
rs113928116
|
0.00001
|
|
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=)
|
rs776123178
|
0.00001
|
|
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)
|
rs148399313
|
0.00001
|
|
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)
|
rs794727946
|
0.00001
|
|
NM_000540.3(RYR1):c.11838C>T (p.Gly3946=)
|
rs758112271
|
0.00001
|
|
NM_000540.3(RYR1):c.12095-4G>A
|
rs769377982
|
0.00001
|
|
NM_000540.3(RYR1):c.12100G>A (p.Val4034Met)
|
rs372447264
|
0.00001
|
|
NM_000540.3(RYR1):c.12117C>T (p.Ile4039=)
|
rs767024764
|
0.00001
|
|
NM_000540.3(RYR1):c.12228C>T (p.Phe4076=)
|
rs757332415
|
0.00001
|
|
NM_000540.3(RYR1):c.12251G>A (p.Arg4084His)
|
rs779380542
|
0.00001
|
|
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser)
|
rs766407858
|
0.00001
|
|
NM_000540.3(RYR1):c.1317C>T (p.Gly439=)
|
rs1230243590
|
0.00001
|
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
|
NM_000540.3(RYR1):c.13447G>A (p.Val4483Met)
|
rs1374937370
|
0.00001
|
|
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)
|
rs928989953
|
0.00001
|
|
NM_000540.3(RYR1):c.13599G>A (p.Lys4533=)
|
rs1218373877
|
0.00001
|
|
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp)
|
rs771741606
|
0.00001
|
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
|
NM_000540.3(RYR1):c.13899G>A (p.Leu4633=)
|
rs1280134766
|
0.00001
|
|
NM_000540.3(RYR1):c.14073G>A (p.Glu4691=)
|
rs1450888449
|
0.00001
|
|
NM_000540.3(RYR1):c.14129+1G>A
|
rs142929172
|
0.00001
|
|
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)
|
rs193922868
|
0.00001
|
|
NM_000540.3(RYR1):c.14304-6C>A
|
rs794728693
|
0.00001
|
|
NM_000540.3(RYR1):c.14307C>T (p.Leu4769=)
|
rs1177353484
|
0.00001
|
|
NM_000540.3(RYR1):c.14378T>G (p.Leu4793Arg)
|
rs118192179
|
0.00001
|
|
NM_000540.3(RYR1):c.1440G>A (p.Glu480=)
|
rs989350448
|
0.00001
|
|
NM_000540.3(RYR1):c.1441-12T>C
|
rs760987340
|
0.00001
|
|
NM_000540.3(RYR1):c.14512-1G>A
|
rs1064793932
|
0.00001
|
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
|
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)
|
rs193922884
|
0.00001
|
|
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=)
|
rs770698609
|
0.00001
|
|
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=)
|
rs886054411
|
0.00001
|
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
|
NM_000540.3(RYR1):c.1559T>C (p.Leu520Pro)
|
rs1384515505
|
0.00001
|
|
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)
|
rs772978260
|
0.00001
|
|
NM_000540.3(RYR1):c.168T>C (p.Asn56=)
|
rs1266378538
|
0.00001
|
|
NM_000540.3(RYR1):c.1788C>T (p.His596=)
|
rs369299704
|
0.00001
|
|
NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter)
|
rs754522209
|
0.00001
|
|
NM_000540.3(RYR1):c.199G>A (p.Val67Ile)
|
rs761182247
|
0.00001
|
|
NM_000540.3(RYR1):c.2173G>A (p.Val725Met)
|
rs200698933
|
0.00001
|
|
NM_000540.3(RYR1):c.2251G>A (p.Val751Met)
|
rs767667578
|
0.00001
|
|
NM_000540.3(RYR1):c.255G>T (p.Val85=)
|
rs532101469
|
0.00001
|
|
NM_000540.3(RYR1):c.2646G>A (p.Ala882=)
|
rs375163703
|
0.00001
|
|
NM_000540.3(RYR1):c.2680C>A (p.Pro894Thr)
|
rs111976711
|
0.00001
|
|
NM_000540.3(RYR1):c.2682G>T (p.Pro894=)
|
rs919322708
|
0.00001
|
|
NM_000540.3(RYR1):c.2683-15C>G
|
rs892282118
|
0.00001
|
|
NM_000540.3(RYR1):c.2823G>A (p.Ala941=)
|
rs750305530
|
0.00001
|
|
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu)
|
rs143179371
|
0.00001
|
|
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)
|
rs756138074
|
0.00001
|
|
NM_000540.3(RYR1):c.3424del (p.Trp1142fs)
|
rs1168352165
|
0.00001
|
|
NM_000540.3(RYR1):c.3431C>T (p.Pro1144Leu)
|
rs201940876
|
0.00001
|
|
NM_000540.3(RYR1):c.3981C>G (p.Pro1327=)
|
rs763082630
|
0.00001
|
|
NM_000540.3(RYR1):c.4056G>A (p.Ala1352=)
|
rs915321867
|
0.00001
|
|
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter)
|
rs587784376
|
0.00001
|
|
NM_000540.3(RYR1):c.4230C>T (p.Leu1410=)
|
rs750872878
|
0.00001
|
|
NM_000540.3(RYR1):c.4488C>T (p.Gly1496=)
|
rs886038331
|
0.00001
|
|
NM_000540.3(RYR1):c.4533G>A (p.Thr1511=)
|
rs147901772
|
0.00001
|
|
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=)
|
rs200600174
|
0.00001
|
|
NM_000540.3(RYR1):c.4777C>T (p.Arg1593Trp)
|
rs1229854214
|
0.00001
|
|
NM_000540.3(RYR1):c.4782G>A (p.Leu1594=)
|
rs1064797239
|
0.00001
|
|
NM_000540.3(RYR1):c.5019C>T (p.Cys1673=)
|
rs543026464
|
0.00001
|
|
NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs)
|
rs1248355799
|
0.00001
|
|
NM_000540.3(RYR1):c.5119C>T (p.Arg1707Cys)
|
rs2514227330
|
0.00001
|
|
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)
|
rs193922781
|
0.00001
|
|
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys)
|
rs761616815
|
0.00001
|
|
NM_000540.3(RYR1):c.530G>A (p.Arg177His)
|
rs750303767
|
0.00001
|
|
NM_000540.3(RYR1):c.5484C>T (p.Asp1828=)
|
rs775744847
|
0.00001
|
|
NM_000540.3(RYR1):c.5548-3T>C
|
rs370111319
|
0.00001
|
|
NM_000540.3(RYR1):c.5548-9G>T
|
rs776320867
|
0.00001
|
|
NM_000540.3(RYR1):c.5908C>T (p.Gln1970Ter)
|
rs2514251900
|
0.00001
|
|
NM_000540.3(RYR1):c.6016-5C>G
|
rs369996114
|
0.00001
|
|
NM_000540.3(RYR1):c.6128-3C>T
|
rs775568216
|
0.00001
|
|
NM_000540.3(RYR1):c.6301A>G (p.Met2101Val)
|
rs531823936
|
0.00001
|
|
NM_000540.3(RYR1):c.631+1G>T
|
rs374937694
|
0.00001
|
|
NM_000540.3(RYR1):c.6366C>T (p.Ser2122=)
|
rs946992657
|
0.00001
|
|
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)
|
rs118192175
|
0.00001
|
|
NM_000540.3(RYR1):c.6549-8G>A
|
rs756593088
|
0.00001
|
|
NM_000540.3(RYR1):c.6584C>T (p.Pro2195Leu)
|
rs772003357
|
0.00001
|
|
NM_000540.3(RYR1):c.6664-2A>G
|
rs1346257891
|
0.00001
|
|
NM_000540.3(RYR1):c.6664-5C>G
|
rs867630021
|
0.00001
|
|
NM_000540.3(RYR1):c.668A>G (p.His223Arg)
|
rs766836202
|
0.00001
|
|
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys)
|
rs201465595
|
0.00001
|
|
NM_000540.3(RYR1):c.6797-1G>A
|
rs1221087983
|
0.00001
|
|
NM_000540.3(RYR1):c.6797-6C>A
|
rs1405203955
|
0.00001
|
|
NM_000540.3(RYR1):c.6891+2T>C
|
rs1455553231
|
0.00001
|
|
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser)
|
rs536596969
|
0.00001
|
|
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)
|
rs138617219
|
0.00001
|
|
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met)
|
rs193922799
|
0.00001
|
|
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)
|
rs193922803
|
0.00001
|
|
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
|
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln)
|
rs193922815
|
0.00001
|
|
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)
|
rs193922816
|
0.00001
|
|
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)
|
rs118192122
|
0.00001
|
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
|
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)
|
rs121918594
|
0.00001
|
|
NM_000540.3(RYR1):c.7385C>T (p.Pro2462Leu)
|
rs551223467
|
0.00001
|
|
NM_000540.3(RYR1):c.7446T>C (p.Asp2482=)
|
rs374058542
|
0.00001
|
|
NM_000540.3(RYR1):c.7608G>A (p.Leu2536=)
|
rs201686887
|
0.00001
|
|
NM_000540.3(RYR1):c.7614G>A (p.Thr2538=)
|
rs1207360336
|
0.00001
|
|
NM_000540.3(RYR1):c.7834A>C (p.Arg2612=)
|
rs1242518055
|
0.00001
|
|
NM_000540.3(RYR1):c.7836-6C>T
|
rs780269941
|
0.00001
|
|
NM_000540.3(RYR1):c.7857G>A (p.Leu2619=)
|
rs547048377
|
0.00001
|
|
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)
|
rs1365856881
|
0.00001
|
|
NM_000540.3(RYR1):c.7896C>A (p.Ile2632=)
|
rs201090618
|
0.00001
|
|
NM_000540.3(RYR1):c.798C>T (p.Ile266=)
|
rs764527957
|
0.00001
|
|
NM_000540.3(RYR1):c.8115C>T (p.Ala2705=)
|
rs761249404
|
0.00001
|
|
NM_000540.3(RYR1):c.8136C>T (p.Pro2712=)
|
rs879058545
|
0.00001
|
|
NM_000540.3(RYR1):c.8232-1G>A
|
rs1355781735
|
0.00001
|
|
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)
|
rs193922829
|
0.00001
|
|
NM_000540.3(RYR1):c.8291A>G (p.Glu2764Gly)
|
rs1403616422
|
0.00001
|
|
NM_000540.3(RYR1):c.8311-4C>T
|
rs575528695
|
0.00001
|
|
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter)
|
rs1278804520
|
0.00001
|
|
NM_000540.3(RYR1):c.848A>G (p.His283Arg)
|
rs1966899604
|
0.00001
|
|
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys)
|
rs112772310
|
0.00001
|
|
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)
|
rs118192125
|
0.00001
|
|
NM_000540.3(RYR1):c.9001-2A>G
|
rs774119942
|
0.00001
|
|
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=)
|
rs144067910
|
0.00001
|
|
NM_000540.3(RYR1):c.9123-4T>G
|
rs1346638416
|
0.00001
|
|
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu)
|
rs754002399
|
0.00001
|
|
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu)
|
rs758210285
|
0.00001
|
|
NM_000540.3(RYR1):c.9810C>T (p.Ile3270=)
|
rs767400168
|
0.00001
|
|
NM_000546.6(TP53):c.1003C>T (p.Arg335Cys)
|
rs375444154
|
0.00001
|
|
NM_000546.6(TP53):c.1004G>A (p.Arg335His)
|
rs771939956
|
0.00001
|
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
|
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln)
|
rs375338359
|
0.00001
|
|
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)
|
rs755394212
|
0.00001
|
|
NM_000546.6(TP53):c.1061A>G (p.Gln354Arg)
|
rs752142489
|
0.00001
|
|
NM_000546.6(TP53):c.1066G>C (p.Gly356Arg)
|
rs766786605
|
0.00001
|
|
NM_000546.6(TP53):c.1093C>T (p.His365Tyr)
|
rs267605075
|
0.00001
|
|
NM_000546.6(TP53):c.1136G>A (p.Arg379His)
|
rs863224682
|
0.00001
|
|
NM_000546.6(TP53):c.1150A>G (p.Met384Val)
|
rs730882009
|
0.00001
|
|
NM_000546.6(TP53):c.1151T>C (p.Met384Thr)
|
rs1060501196
|
0.00001
|
|
NM_000546.6(TP53):c.145G>A (p.Asp49Asn)
|
rs587780728
|
0.00001
|
|
NM_000546.6(TP53):c.14A>G (p.Gln5Arg)
|
rs781595324
|
0.00001
|
|
NM_000546.6(TP53):c.188C>T (p.Ala63Val)
|
rs372201428
|
0.00001
|
|
NM_000546.6(TP53):c.21T>A (p.Asp7Glu)
|
rs587781277
|
0.00001
|
|
NM_000546.6(TP53):c.221C>T (p.Ala74Val)
|
rs587781832
|
0.00001
|
|
NM_000546.6(TP53):c.250G>A (p.Ala84Thr)
|
rs587781307
|
0.00001
|
|
NM_000546.6(TP53):c.289G>T (p.Val97Phe)
|
rs730882023
|
0.00001
|
|
NM_000546.6(TP53):c.322G>A (p.Gly108Ser)
|
rs587782461
|
0.00001
|
|
NM_000546.6(TP53):c.328C>T (p.Arg110Cys)
|
rs587781371
|
0.00001
|
|
NM_000546.6(TP53):c.341T>C (p.Leu114Ser)
|
rs781724995
|
0.00001
|
|
NM_000546.6(TP53):c.346T>G (p.Ser116Ala)
|
rs989692988
|
0.00001
|
|
NM_000546.6(TP53):c.353C>T (p.Thr118Ile)
|
rs1064794141
|
0.00001
|
|
NM_000546.6(TP53):c.370T>A (p.Cys124Ser)
|
rs730881997
|
0.00001
|
|
NM_000546.6(TP53):c.376-2dup
|
rs751253294
|
0.00001
|
|
NM_000546.6(TP53):c.37C>T (p.Pro13Ser)
|
rs1060501208
|
0.00001
|
|
NM_000546.6(TP53):c.457C>T (p.Pro153Ser)
|
rs1064795860
|
0.00001
|
|
NM_000546.6(TP53):c.469G>A (p.Val157Ile)
|
rs121912654
|
0.00001
|
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
|
NM_000546.6(TP53):c.4G>A (p.Glu2Lys)
|
rs769884991
|
0.00001
|
|
NM_000546.6(TP53):c.536A>G (p.His179Arg)
|
rs1057519991
|
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.604C>T (p.Arg202Cys)
|
rs587780072
|
0.00001
|
|
NM_000546.6(TP53):c.605G>A (p.Arg202His)
|
rs587778719
|
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.686G>A (p.Cys229Tyr)
|
rs1064793603
|
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.74+3G>A
|
rs1229638201
|
0.00001
|
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
|
NM_000546.6(TP53):c.783-10T>C
|
rs377590379
|
0.00001
|
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
|
NM_000546.6(TP53):c.850A>T (p.Thr284Ser)
|
rs1204379654
|
0.00001
|
|
NM_000546.6(TP53):c.851C>T (p.Thr284Ile)
|
rs863224685
|
0.00001
|
|
NM_000546.6(TP53):c.861G>C (p.Glu287Asp)
|
rs748891343
|
0.00001
|
|
NM_000546.6(TP53):c.875A>G (p.Lys292Arg)
|
rs121912663
|
0.00001
|
|
NM_000546.6(TP53):c.877G>T (p.Gly293Trp)
|
rs587780076
|
0.00001
|
|
NM_000546.6(TP53):c.884C>T (p.Pro295Leu)
|
rs751713111
|
0.00001
|
|
NM_000546.6(TP53):c.907A>G (p.Ser303Gly)
|
rs587782391
|
0.00001
|
|
NM_000546.6(TP53):c.943T>A (p.Ser315Thr)
|
rs762620193
|
0.00001
|
|
NM_000546.6(TP53):c.946C>A (p.Pro316Thr)
|
rs772773208
|
0.00001
|
|
NM_000546.6(TP53):c.949C>A (p.Gln317Lys)
|
rs764735889
|
0.00001
|
|
NM_000546.6(TP53):c.953C>T (p.Pro318Leu)
|
rs1555524975
|
0.00001
|
|
NM_000546.6(TP53):c.96+12G>C
|
rs779577884
|
0.00001
|
|
NM_000546.6(TP53):c.970G>C (p.Asp324His)
|
rs1064794810
|
0.00001
|
|
NM_000546.6(TP53):c.974G>T (p.Gly325Val)
|
rs121912659
|
0.00001
|
|
NM_000548.5(TSC2):c.*4C>T
|
rs368282661
|
0.00001
|
|
NM_000548.5(TSC2):c.1342C>G (p.Leu448Val)
|
rs1413875392
|
0.00001
|
|
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)
|
rs878854077
|
0.00001
|
|
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg)
|
rs752953762
|
0.00001
|
|
NM_000548.5(TSC2):c.1689C>T (p.Ala563=)
|
rs779858018
|
0.00001
|
|
NM_000548.5(TSC2):c.225+4G>A
|
rs201901739
|
0.00001
|
|
NM_000548.5(TSC2):c.2330A>G (p.His777Arg)
|
rs759528809
|
0.00001
|
|
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile)
|
rs779472379
|
0.00001
|
|
NM_000548.5(TSC2):c.2366T>C (p.Val789Ala)
|
rs748669016
|
0.00001
|
|
NM_000548.5(TSC2):c.2749C>T (p.Arg917Trp)
|
rs781587135
|
0.00001
|
|
NM_000548.5(TSC2):c.2838-6C>T
|
rs528706539
|
0.00001
|
|
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=)
|
rs150126331
|
0.00001
|
|
NM_000548.5(TSC2):c.337-15G>C
|
rs772983704
|
0.00001
|
|
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His)
|
rs200577441
|
0.00001
|
|
NM_000548.5(TSC2):c.3883+5C>T
|
rs45448994
|
0.00001
|
|
NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser)
|
rs778147657
|
0.00001
|
|
NM_000548.5(TSC2):c.4324G>A (p.Glu1442Lys)
|
rs45469392
|
0.00001
|
|
NM_000548.5(TSC2):c.5161-12C>G
|
rs1555440351
|
0.00001
|
|
NM_000548.5(TSC2):c.5337G>A (p.Gln1779=)
|
rs768237144
|
0.00001
|
|
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn)
|
rs397514957
|
0.00001
|
|
NM_000548.5(TSC2):c.849-4T>C
|
rs752614339
|
0.00001
|
|
NM_000548.5(TSC2):c.849-8A>G
|
rs765336852
|
0.00001
|
|
NM_000548.5(TSC2):c.879A>G (p.Arg293=)
|
rs369222477
|
0.00001
|
|
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu)
|
rs202082319
|
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.134C>G (p.Pro45Arg)
|
rs199583685
|
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.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.242C>T (p.Pro81Leu)
|
rs193922608
|
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.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.538A>G (p.Ile180Val)
|
rs377715747
|
0.00001
|
|
NM_000551.4(VHL):c.561T>C (p.Asp187=)
|
rs370769257
|
0.00001
|
|
NM_000551.4(VHL):c.599G>A (p.Arg200Gln)
|
rs754016774
|
0.00001
|
|
NM_000551.4(VHL):c.612G>A (p.Glu204=)
|
rs747805018
|
0.00001
|
|
NM_000551.4(VHL):c.99G>C (p.Ser33=)
|
rs912159589
|
0.00001
|
|
NM_001005242.3(PKP2):c.1171-2A>G
|
rs794729133
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-5T>C
|
rs189036647
|
0.00001
|
|
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val)
|
rs763749576
|
0.00001
|
|
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)
|
rs730881151
|
0.00001
|
|
NM_001018005.2(TPM1):c.774C>T (p.Asp258=)
|
rs762282433
|
0.00001
|
|
NM_001018005.2(TPM1):c.852-4G>A
|
rs374970923
|
0.00001
|
|
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)
|
rs190140598
|
0.00001
|
|
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)
|
rs768161152
|
0.00001
|
|
NM_001035.3(RYR2):c.13656T>C (p.His4552=)
|
rs397516512
|
0.00001
|
|
NM_001035.3(RYR2):c.2719-4T>A
|
rs397516523
|
0.00001
|
|
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)
|
rs780707255
|
0.00001
|
|
NM_001035.3(RYR2):c.8896-9T>C
|
rs773401697
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1006C>T (p.Arg336Cys)
|
rs151316420
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1011G>T (p.Lys337Asn)
|
rs1644913465
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1013C>T (p.Pro338Leu)
|
rs1557464361
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1037C>T (p.Thr346Ile)
|
rs1553126467
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp)
|
rs587778539
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)
|
rs1060501335
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1088A>G (p.Gln363Arg)
|
rs984795084
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1102+1G>A
|
rs587781337
|
0.00001
|
|
NM_001048174.2(MUTYH):c.112G>A (p.Asp38Asn)
|
rs1245520779
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1135G>A (p.Val379Met)
|
rs876660539
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1144G>A (p.Glu382Lys)
|
rs587782690
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1151C>T (p.Ser384Leu)
|
rs587781533
|
0.00001
|
|
NM_001048174.2(MUTYH):c.116-46A>G
|
rs748362676
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1187T>C (p.Leu396Pro)
|
rs1553125762
|
0.00001
|
|
NM_001048174.2(MUTYH):c.128A>G (p.Gln43Arg)
|
rs767237971
|
0.00001
|
|
NM_001048174.2(MUTYH):c.131C>T (p.Pro44Leu)
|
rs759140181
|
0.00001
|
|
NM_001048174.2(MUTYH):c.137A>C (p.Glu46Ala)
|
rs1471949219
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter)
|
rs863224502
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1396T>C (p.Phe466Leu)
|
rs535102558
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg)
|
rs587780085
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1410G>C (p.Gln470His)
|
rs587782794
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1411G>A (p.Gly471Ser)
|
rs1553124088
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1429T>G (p.Cys477Gly)
|
rs876659488
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1448C>T (p.Ser483Phe)
|
rs796921537
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1453G>T (p.Val485Leu)
|
rs780209880
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1462C>A (p.Pro488Thr)
|
rs1553123034
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1471C>T (p.Arg491Trp)
|
rs754364718
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1531A>G (p.Thr511Ala)
|
rs151196169
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1534G>A (p.Asp512Asn)
|
rs1439243449
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1538C>T (p.Ala513Val)
|
rs751053826
|
0.00001
|
|
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs)
|
rs587780086
|
0.00001
|
|
NM_001048174.2(MUTYH):c.160T>C (p.Ser54Pro)
|
rs773198648
|
0.00001
|
|
NM_001048174.2(MUTYH):c.161C>A (p.Ser54Tyr)
|
rs876658645
|
0.00001
|
|
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg)
|
rs558707786
|
0.00001
|
|
NM_001048174.2(MUTYH):c.259A>G (p.Arg87Gly)
|
rs950856923
|
0.00001
|
|
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys)
|
rs876660615
|
0.00001
|
|
NM_001048174.2(MUTYH):c.2T>C (p.Met1Thr)
|
rs201163858
|
0.00001
|
|
NM_001048174.2(MUTYH):c.310G>A (p.Val104Ile)
|
rs763273196
|
0.00001
|
|
NM_001048174.2(MUTYH):c.362A>G (p.Tyr121Cys)
|
rs1221837292
|
0.00001
|
|
NM_001048174.2(MUTYH):c.375G>T (p.Met125Ile)
|
rs1060501328
|
0.00001
|
|
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)
|
rs777184451
|
0.00001
|
|
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp)
|
rs587781864
|
0.00001
|
|
NM_001048174.2(MUTYH):c.467G>A (p.Arg156Gln)
|
rs758567247
|
0.00001
|
|
NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp)
|
rs750592289
|
0.00001
|
|
NM_001048174.2(MUTYH):c.478G>A (p.Glu160Lys)
|
rs1428261191
|
0.00001
|
|
NM_001048174.2(MUTYH):c.492+3A>G
|
rs765792042
|
0.00001
|
|
NM_001048174.2(MUTYH):c.499G>A (p.Glu167Lys)
|
rs1384803634
|
0.00001
|
|
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter)
|
rs745921592
|
0.00001
|
|
NM_001048174.2(MUTYH):c.519G>T (p.Met173Ile)
|
rs1172521297
|
0.00001
|
|
NM_001048174.2(MUTYH):c.524G>A (p.Arg175His)
|
rs538383136
|
0.00001
|
|
NM_001048174.2(MUTYH):c.547C>T (p.Leu183Phe)
|
rs876660154
|
0.00001
|
|
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu)
|
rs768553551
|
0.00001
|
|
NM_001048174.2(MUTYH):c.601G>A (p.Gly201Ser)
|
rs371102235
|
0.00001
|
|
NM_001048174.2(MUTYH):c.602G>A (p.Gly201Asp)
|
rs752114814
|
0.00001
|
|
NM_001048174.2(MUTYH):c.606G>A (p.Gln202=)
|
rs199989617
|
0.00001
|
|
NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp)
|
rs147487160
|
0.00001
|
|
NM_001048174.2(MUTYH):c.635C>T (p.Ala212Val)
|
rs369120013
|
0.00001
|
|
NM_001048174.2(MUTYH):c.674C>G (p.Pro225Arg)
|
rs564919438
|
0.00001
|
|
NM_001048174.2(MUTYH):c.683C>T (p.Thr228Ile)
|
rs766173546
|
0.00001
|
|
NM_001048174.2(MUTYH):c.694C>A (p.Gln232Lys)
|
rs773087549
|
0.00001
|
|
NM_001048174.2(MUTYH):c.713C>G (p.Ala238Gly)
|
rs750344996
|
0.00001
|
|
NM_001048174.2(MUTYH):c.724G>A (p.Val242Met)
|
rs765046399
|
0.00001
|
|
NM_001048174.2(MUTYH):c.758C>T (p.Ala253Val)
|
rs1060501329
|
0.00001
|
|
NM_001048174.2(MUTYH):c.761C>T (p.Ala254Val)
|
rs587782764
|
0.00001
|
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
|
NM_001048174.2(MUTYH):c.802C>T (p.Leu268=)
|
rs778782508
|
0.00001
|
|
NM_001048174.2(MUTYH):c.820G>T (p.Val274Leu)
|
rs760889663
|
0.00001
|
|
NM_001048174.2(MUTYH):c.825G>T (p.Glu275Asp)
|
rs863224700
|
0.00001
|
|
NM_001048174.2(MUTYH):c.828C>G (p.Ser276Arg)
|
rs767805597
|
0.00001
|
|
NM_001048174.2(MUTYH):c.835C>T (p.Arg279Trp)
|
rs759822330
|
0.00001
|
|
NM_001048174.2(MUTYH):c.842G>A (p.Arg281His)
|
rs587782727
|
0.00001
|
|
NM_001048174.2(MUTYH):c.84C>A (p.Asn28Lys)
|
rs200514222
|
0.00001
|
|
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)
|
rs558173961
|
0.00001
|
|
NM_001048174.2(MUTYH):c.923C>T (p.Thr308Ile)
|
rs876659790
|
0.00001
|
|
NM_001048174.2(MUTYH):c.959C>T (p.Pro320Leu)
|
rs780178101
|
0.00001
|
|
NM_001048174.2(MUTYH):c.986A>G (p.Asn329Ser)
|
rs754178539
|
0.00001
|
|
NM_001048174.2(MUTYH):c.988T>C (p.Phe330Leu)
|
rs587781601
|
0.00001
|
|
NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu)
|
rs1060501323
|
0.00001
|
|
NM_001128425.2(MUTYH):c.187G>A (p.Gly63Arg)
|
rs541110664
|
0.00001
|
|
NM_001128425.2(MUTYH):c.37G>A (p.Ala13Thr)
|
rs375349172
|
0.00001
|
|
NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val)
|
rs587780747
|
0.00001
|
|
NM_001128425.2(MUTYH):c.8C>G (p.Pro3Arg)
|
rs745424307
|
0.00001
|
|
NM_001276345.2(TNNT2):c.121G>A (p.Asp41Asn)
|
rs748078123
|
0.00001
|
|
NM_001276345.2(TNNT2):c.200-4C>G
|
rs397516448
|
0.00001
|
|
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=)
|
rs727504322
|
0.00001
|
|
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)
|
rs730881101
|
0.00001
|
|
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)
|
rs483352832
|
0.00001
|
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
|
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)
|
rs367785431
|
0.00001
|
|
NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val)
|
rs759337318
|
0.00001
|
|
NM_001370259.2(MEN1):c.1026G>A (p.Ala342=)
|
rs878855184
|
0.00001
|
|
NM_001370259.2(MEN1):c.1060T>C (p.Cys354Arg)
|
rs371503251
|
0.00001
|
|
NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile)
|
rs758404089
|
0.00001
|
|
NM_001370259.2(MEN1):c.1128G>A (p.Leu376=)
|
rs754129242
|
0.00001
|
|
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)
|
rs1298484645
|
0.00001
|
|
NM_001370259.2(MEN1):c.1207G>A (p.Ala403Thr)
|
rs746135199
|
0.00001
|
|
NM_001370259.2(MEN1):c.121C>T (p.Leu41=)
|
rs1441672096
|
0.00001
|
|
NM_001370259.2(MEN1):c.1275G>A (p.Glu425=)
|
rs1236745071
|
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.1492C>G (p.Pro498Ala)
|
rs771842369
|
0.00001
|
|
NM_001370259.2(MEN1):c.1516A>C (p.Thr506Pro)
|
rs1060499994
|
0.00001
|
|
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)
|
rs386833403
|
0.00001
|
|
NM_001370259.2(MEN1):c.1578C>A (p.Ala526=)
|
rs767655504
|
0.00001
|
|
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln)
|
rs1085307502
|
0.00001
|
|
NM_001370259.2(MEN1):c.1610T>G (p.Val537Gly)
|
rs775422717
|
0.00001
|
|
NM_001370259.2(MEN1):c.1635G>A (p.Pro545=)
|
rs1349729840
|
0.00001
|
|
NM_001370259.2(MEN1):c.219C>T (p.Gly73=)
|
rs758434243
|
0.00001
|
|
NM_001370259.2(MEN1):c.300C>G (p.Ala100=)
|
rs773136972
|
0.00001
|
|
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser)
|
rs376872829
|
0.00001
|
|
NM_001370259.2(MEN1):c.609C>T (p.Asn203=)
|
rs749844029
|
0.00001
|
|
NM_001370259.2(MEN1):c.640G>A (p.Gly214Ser)
|
rs781493730
|
0.00001
|
|
NM_001370259.2(MEN1):c.710C>T (p.Ala237Val)
|
rs760289964
|
0.00001
|
|
NM_001370259.2(MEN1):c.711G>A (p.Ala237=)
|
rs144677807
|
0.00001
|
|
NM_001370259.2(MEN1):c.71C>T (p.Ala24Val)
|
rs1328062930
|
0.00001
|
|
NM_001370259.2(MEN1):c.884G>A (p.Arg295Gln)
|
rs1397110438
|
0.00001
|
|
NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser)
|
rs773089218
|
0.00001
|
|
NM_001370259.2(MEN1):c.999T>C (p.Asn333=)
|
rs763133775
|
0.00001
|
|
NM_001613.4(ACTA2):c.130-9C>A
|
rs769557305
|
0.00001
|
|
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys)
|
rs772862676
|
0.00001
|
|
NM_001613.4(ACTA2):c.696C>T (p.Ala232=)
|
rs749557185
|
0.00001
|
|
NM_001613.4(ACTA2):c.991-4A>C
|
rs761599964
|
0.00001
|
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
|
NM_001943.5(DSG2):c.2335-9T>C
|
rs757355636
|
0.00001
|
|
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met)
|
rs943749481
|
0.00001
|
|
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter)
|
rs753052874
|
0.00001
|
|
NM_002474.3(MYH11):c.1823A>G (p.Asn608Ser)
|
rs750642581
|
0.00001
|
|
NM_002474.3(MYH11):c.205G>A (p.Val69Ile)
|
rs371215641
|
0.00001
|
|
NM_002474.3(MYH11):c.2345G>A (p.Arg782Gln)
|
rs200835799
|
0.00001
|
|
NM_002474.3(MYH11):c.3295C>T (p.Leu1099Phe)
|
rs757497342
|
0.00001
|
|
NM_002474.3(MYH11):c.3375G>C (p.Glu1125Asp)
|
rs779019646
|
0.00001
|
|
NM_002474.3(MYH11):c.3469G>A (p.Asp1157Asn)
|
rs746943696
|
0.00001
|
|
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu)
|
rs200737737
|
0.00001
|
|
NM_002474.3(MYH11):c.3999C>T (p.Asn1333=)
|
rs768465413
|
0.00001
|
|
NM_002474.3(MYH11):c.4404G>A (p.Ala1468=)
|
rs1011581295
|
0.00001
|
|
NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu)
|
rs794728680
|
0.00001
|
|
NM_002474.3(MYH11):c.4792-10C>G
|
rs1432532960
|
0.00001
|
|
NM_002474.3(MYH11):c.4792-7C>T
|
rs375652279
|
0.00001
|
|
NM_002474.3(MYH11):c.4943G>A (p.Arg1648His)
|
rs750912363
|
0.00001
|
|
NM_002474.3(MYH11):c.4953G>C (p.Gln1651His)
|
rs756832190
|
0.00001
|
|
NM_002474.3(MYH11):c.5089G>A (p.Ala1697Thr)
|
rs538145374
|
0.00001
|
|
NM_002474.3(MYH11):c.531-13C>A
|
rs1424389771
|
0.00001
|
|
NM_002474.3(MYH11):c.5338G>T (p.Ala1780Ser)
|
rs1041344233
|
0.00001
|
|
NM_002474.3(MYH11):c.5396G>A (p.Ser1799Asn)
|
rs776016983
|
0.00001
|
|
NM_002474.3(MYH11):c.5574G>A (p.Val1858=)
|
rs758553530
|
0.00001
|
|
NM_002474.3(MYH11):c.5586C>G (p.Arg1862=)
|
rs542765381
|
0.00001
|
|
NM_002474.3(MYH11):c.5614-5G>A
|
rs201028938
|
0.00001
|
|
NM_002474.3(MYH11):c.5614G>A (p.Ala1872Thr)
|
rs1355377006
|
0.00001
|
|
NM_002474.3(MYH11):c.5615C>T (p.Ala1872Val)
|
rs943486107
|
0.00001
|
|
NM_002474.3(MYH11):c.5628T>A (p.Asn1876Lys)
|
rs769802444
|
0.00001
|
|
NM_002474.3(MYH11):c.5766C>T (p.Asn1922=)
|
rs764020019
|
0.00001
|
|
NM_002474.3(MYH11):c.5874G>A (p.Thr1958=)
|
rs761000142
|
0.00001
|
|
NM_002474.3(MYH11):c.62T>C (p.Ile21Thr)
|
rs777372840
|
0.00001
|
|
NM_002474.3(MYH11):c.834G>A (p.Glu278=)
|
rs758728429
|
0.00001
|
|
NM_002878.4(RAD51D):c.144+3G>T
|
rs761057565
|
0.00001
|
|
NM_002878.4(RAD51D):c.145-3C>T
|
rs201974522
|
0.00001
|
|
NM_002878.4(RAD51D):c.263+1G>A
|
rs1555570242
|
0.00001
|
|
NM_002878.4(RAD51D):c.345+4C>T
|
rs918947511
|
0.00001
|
|
NM_002878.4(RAD51D):c.345+5A>G
|
rs878854562
|
0.00001
|
|
NM_002878.4(RAD51D):c.481-5T>G
|
rs374382703
|
0.00001
|
|
NM_002878.4(RAD51D):c.49A>G (p.Ile17Val)
|
rs1002032036
|
0.00001
|
|
NM_002878.4(RAD51D):c.53A>G (p.Gln18Arg)
|
rs546225564
|
0.00001
|
|
NM_002878.4(RAD51D):c.70A>G (p.Arg24Gly)
|
rs781611267
|
0.00001
|
|
NM_002878.4(RAD51D):c.768C>G (p.Asp256Glu)
|
rs569428131
|
0.00001
|
|
NM_002878.4(RAD51D):c.772G>A (p.Gly258Arg)
|
rs181695922
|
0.00001
|
|
NM_002878.4(RAD51D):c.776G>A (p.Arg259Lys)
|
rs771473156
|
0.00001
|
|
NM_002878.4(RAD51D):c.865G>A (p.Gly289Ser)
|
rs587782129
|
0.00001
|
|
NM_002878.4(RAD51D):c.869G>A (p.Arg290Gln)
|
rs773883374
|
0.00001
|
|
NM_002878.4(RAD51D):c.904-13C>A
|
rs964696175
|
0.00001
|
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
|
NM_003000.3(SDHB):c.541-3C>T
|
rs751920183
|
0.00001
|
|
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)
|
rs397516836
|
0.00001
|
|
NM_003000.3(SDHB):c.80G>A (p.Arg27Gln)
|
rs373976827
|
0.00001
|
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
|
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser)
|
rs780280433
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1222C>A (p.Leu408Met)
|
rs770352403
|
0.00001
|
|
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)
|
rs764941621
|
0.00001
|
|
NM_003242.6(TGFBR2):c.610G>A (p.Gly204Ser)
|
rs773431795
|
0.00001
|
|
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His)
|
rs751948498
|
0.00001
|
|
NM_003242.6(TGFBR2):c.95-2A>G
|
rs779131465
|
0.00001
|
|
NM_004329.3(BMPR1A):c.-6T>C
|
rs1047677696
|
0.00001
|
|
NM_004329.3(BMPR1A):c.103A>G (p.Met35Val)
|
rs1043850286
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1069G>A (p.Ala357Thr)
|
rs201509164
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1153G>A (p.Val385Ile)
|
rs1060503396
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn)
|
rs587781522
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1274A>T (p.Tyr425Phe)
|
rs758599378
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1324C>T (p.Arg442Cys)
|
rs587782496
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1343-3T>C
|
rs771504880
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1379T>C (p.Met460Thr)
|
rs758309022
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1398A>C (p.Ser466=)
|
rs56410735
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1411C>T (p.Arg471Cys)
|
rs771452619
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1412G>A (p.Arg471His)
|
rs779371501
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1430A>G (p.Lys477Arg)
|
rs767995260
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1432C>T (p.Arg478Cys)
|
rs372178531
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1444A>G (p.Ile482Val)
|
rs974639091
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1456C>T (p.Arg486Trp)
|
rs767763451
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1549A>G (p.Ile517Val)
|
rs754607465
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1573G>A (p.Val525Ile)
|
rs769233029
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met)
|
rs201345248
|
0.00001
|
|
NM_004329.3(BMPR1A):c.22A>G (p.Ile8Val)
|
rs863224719
|
0.00001
|
|
NM_004329.3(BMPR1A):c.333+6A>T
|
rs1473659802
|
0.00001
|
|
NM_004329.3(BMPR1A):c.347C>T (p.Ala116Val)
|
rs750097648
|
0.00001
|
|
NM_004329.3(BMPR1A):c.37G>A (p.Ala13Thr)
|
rs200115604
|
0.00001
|
|
NM_004329.3(BMPR1A):c.524G>A (p.Cys175Tyr)
|
rs370091063
|
0.00001
|
|
NM_004329.3(BMPR1A):c.559C>T (p.Arg187Cys)
|
rs587782231
|
0.00001
|
|
NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys)
|
rs879254272
|
0.00001
|
|
NM_004329.3(BMPR1A):c.568A>G (p.Asn190Asp)
|
rs771444196
|
0.00001
|
|
NM_004329.3(BMPR1A):c.571C>T (p.Arg191Cys)
|
rs1053423400
|
0.00001
|
|
NM_004329.3(BMPR1A):c.572G>A (p.Arg191His)
|
rs746231785
|
0.00001
|
|
NM_004329.3(BMPR1A):c.59G>A (p.Arg20His)
|
rs759014147
|
0.00001
|
|
NM_004329.3(BMPR1A):c.628A>G (p.Ile210Val)
|
rs750274275
|
0.00001
|
|
NM_004329.3(BMPR1A):c.634C>A (p.Gln212Lys)
|
rs876658138
|
0.00001
|
|
NM_004329.3(BMPR1A):c.676-5T>C
|
rs200537780
|
0.00001
|
|
NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe)
|
rs587780110
|
0.00001
|
|
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr)
|
rs587780783
|
0.00001
|
|
NM_004329.3(BMPR1A):c.74A>G (p.Asn25Ser)
|
rs1060503410
|
0.00001
|
|
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys)
|
rs750513716
|
0.00001
|
|
NM_004329.3(BMPR1A):c.761G>A (p.Arg254His)
|
rs766908700
|
0.00001
|
|
NM_004329.3(BMPR1A):c.818G>A (p.Arg273Gln)
|
rs762178061
|
0.00001
|
|
NM_004329.3(BMPR1A):c.869-4A>C
|
rs964020576
|
0.00001
|
|
NM_004329.3(BMPR1A):c.97A>G (p.Thr33Ala)
|
rs748515167
|
0.00001
|
|
NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser)
|
rs753521037
|
0.00001
|
|
NM_004360.5(CDH1):c.1008+4del
|
rs746392709
|
0.00001
|
|
NM_004360.5(CDH1):c.1090A>T (p.Thr364Ser)
|
rs778868539
|
0.00001
|
|
NM_004360.5(CDH1):c.1103C>T (p.Thr368Ile)
|
rs367868307
|
0.00001
|
|
NM_004360.5(CDH1):c.1132A>C (p.Thr378Pro)
|
rs587781432
|
0.00001
|
|
NM_004360.5(CDH1):c.1149G>C (p.Gln383His)
|
rs786202510
|
0.00001
|
|
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys)
|
rs372838203
|
0.00001
|
|
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)
|
rs556110297
|
0.00001
|
|
NM_004360.5(CDH1):c.1183A>G (p.Thr395Ala)
|
rs201135424
|
0.00001
|
|
NM_004360.5(CDH1):c.1213A>G (p.Asn405Asp)
|
rs1336921050
|
0.00001
|
|
NM_004360.5(CDH1):c.1214A>G (p.Asn405Ser)
|
rs587778175
|
0.00001
|
|
NM_004360.5(CDH1):c.1243A>G (p.Ile415Val)
|
rs1060501239
|
0.00001
|
|
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser)
|
rs773441320
|
0.00001
|
|
NM_004360.5(CDH1):c.125C>T (p.Pro42Leu)
|
rs876659333
|
0.00001
|
|
NM_004360.5(CDH1):c.1315G>A (p.Ala439Thr)
|
rs758764445
|
0.00001
|
|
NM_004360.5(CDH1):c.1334A>C (p.Glu445Ala)
|
rs374398608
|
0.00001
|
|
NM_004360.5(CDH1):c.1348T>A (p.Tyr450Asn)
|
rs750741214
|
0.00001
|
|
NM_004360.5(CDH1):c.1351A>C (p.Ile451Leu)
|
rs377416092
|
0.00001
|
|
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)
|
rs587778170
|
0.00001
|
|
NM_004360.5(CDH1):c.1423G>A (p.Val475Met)
|
rs587782113
|
0.00001
|
|
NM_004360.5(CDH1):c.1477G>C (p.Val493Leu)
|
rs730881666
|
0.00001
|
|
NM_004360.5(CDH1):c.147C>T (p.Gly49=)
|
rs1057521592
|
0.00001
|
|
NM_004360.5(CDH1):c.1493A>C (p.Asp498Ala)
|
rs876661065
|
0.00001
|
|
NM_004360.5(CDH1):c.1500C>T (p.Gly500=)
|
rs781317341
|
0.00001
|
|
NM_004360.5(CDH1):c.1526C>A (p.Thr509Asn)
|
rs771551231
|
0.00001
|
|
NM_004360.5(CDH1):c.1634G>T (p.Arg545Leu)
|
rs587780115
|
0.00001
|
|
NM_004360.5(CDH1):c.1697T>C (p.Ile566Thr)
|
rs763292288
|
0.00001
|
|
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val)
|
rs1003012321
|
0.00001
|
|
NM_004360.5(CDH1):c.1897G>A (p.Gly633Arg)
|
rs587781615
|
0.00001
|
|
NM_004360.5(CDH1):c.1906G>A (p.Ala636Thr)
|
rs876658950
|
0.00001
|
|
NM_004360.5(CDH1):c.200C>A (p.Ala67Asp)
|
rs730881660
|
0.00001
|
|
NM_004360.5(CDH1):c.2026G>A (p.Asp676Asn)
|
rs115408226
|
0.00001
|
|
NM_004360.5(CDH1):c.2053G>A (p.Val685Met)
|
rs550612843
|
0.00001
|
|
NM_004360.5(CDH1):c.2071G>A (p.Ala691Thr)
|
rs876660560
|
0.00001
|
|
NM_004360.5(CDH1):c.2179C>T (p.Leu727Phe)
|
rs578069093
|
0.00001
|
|
NM_004360.5(CDH1):c.2318A>G (p.His773Arg)
|
rs587782823
|
0.00001
|
|
NM_004360.5(CDH1):c.2335C>T (p.Arg779Trp)
|
rs876660183
|
0.00001
|
|
NM_004360.5(CDH1):c.235A>G (p.Thr79Ala)
|
rs745327620
|
0.00001
|
|
NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile)
|
rs587780120
|
0.00001
|
|
NM_004360.5(CDH1):c.2380G>A (p.Val794Ile)
|
rs587782466
|
0.00001
|
|
NM_004360.5(CDH1):c.2458A>G (p.Thr820Ala)
|
rs878854685
|
0.00001
|
|
NM_004360.5(CDH1):c.2515G>A (p.Gly839Ser)
|
rs587780121
|
0.00001
|
|
NM_004360.5(CDH1):c.251C>T (p.Thr84Ile)
|
rs754388534
|
0.00001
|
|
NM_004360.5(CDH1):c.2542C>T (p.Leu848=)
|
rs1567517746
|
0.00001
|
|
NM_004360.5(CDH1):c.2600A>G (p.Asn867Ser)
|
rs587782623
|
0.00001
|
|
NM_004360.5(CDH1):c.2602C>T (p.Arg868Cys)
|
rs864622630
|
0.00001
|
|
NM_004360.5(CDH1):c.2603G>A (p.Arg868His)
|
rs369126891
|
0.00001
|
|
NM_004360.5(CDH1):c.286A>G (p.Ile96Val)
|
rs749306433
|
0.00001
|
|
NM_004360.5(CDH1):c.322A>G (p.Arg108Gly)
|
rs587778172
|
0.00001
|
|
NM_004360.5(CDH1):c.337A>G (p.Lys113Glu)
|
rs876661106
|
0.00001
|
|
NM_004360.5(CDH1):c.369C>G (p.His123Gln)
|
rs778954591
|
0.00001
|
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
|
NM_004360.5(CDH1):c.388-3T>C
|
rs112139520
|
0.00001
|
|
NM_004360.5(CDH1):c.427C>T (p.Pro143Ser)
|
rs876661226
|
0.00001
|
|
NM_004360.5(CDH1):c.546A>C (p.Lys182Asn)
|
rs201141645
|
0.00001
|
|
NM_004360.5(CDH1):c.595A>T (p.Thr199Ser)
|
rs876658424
|
0.00001
|
|
NM_004360.5(CDH1):c.724G>A (p.Val242Ile)
|
rs111662525
|
0.00001
|
|
NM_004360.5(CDH1):c.781G>A (p.Glu261Lys)
|
rs121964873
|
0.00001
|
|
NM_004360.5(CDH1):c.794A>T (p.Glu265Val)
|
rs587782728
|
0.00001
|
|
NM_004360.5(CDH1):c.79C>T (p.Pro27Ser)
|
rs878854696
|
0.00001
|
|
NM_004360.5(CDH1):c.858C>A (p.Ala286=)
|
rs876660354
|
0.00001
|
|
NM_004360.5(CDH1):c.901G>A (p.Ala301Thr)
|
rs749056300
|
0.00001
|
|
NM_004360.5(CDH1):c.980G>C (p.Ser327Thr)
|
rs587781778
|
0.00001
|
|
NM_004415.4(DSP):c.2436+2T>C
|
rs774514264
|
0.00001
|
|
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)
|
rs577061462
|
0.00001
|
|
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile)
|
rs368869076
|
0.00001
|
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser)
|
rs760555508
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1256-3C>T
|
rs755431191
|
0.00001
|
|
NM_004612.4(TGFBR1):c.466C>T (p.His156Tyr)
|
rs1184553647
|
0.00001
|
|
NM_004612.4(TGFBR1):c.678A>G (p.Gly226=)
|
rs201444476
|
0.00001
|
|
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His)
|
rs755827803
|
0.00001
|
|
NM_004612.4(TGFBR1):c.888A>G (p.Thr296=)
|
rs201943631
|
0.00001
|
|
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)
|
rs760079636
|
0.00001
|
|
NM_004656.4(BAP1):c.1030A>C (p.Asn344His)
|
rs1332735229
|
0.00001
|
|
NM_004656.4(BAP1):c.1052C>T (p.Thr351Ile)
|
rs1291142030
|
0.00001
|
|
NM_004656.4(BAP1):c.1060G>A (p.Val354Ile)
|
rs1174579740
|
0.00001
|
|
NM_004656.4(BAP1):c.1067G>A (p.Arg356Gln)
|
rs1192490528
|
0.00001
|
|
NM_004656.4(BAP1):c.1152C>G (p.Ser384Arg)
|
rs752864098
|
0.00001
|
|
NM_004656.4(BAP1):c.1156G>A (p.Val386Ile)
|
rs372213315
|
0.00001
|
|
NM_004656.4(BAP1):c.1165C>T (p.Arg389Cys)
|
rs373809972
|
0.00001
|
|
NM_004656.4(BAP1):c.1168C>G (p.Pro390Ala)
|
rs1425178905
|
0.00001
|
|
NM_004656.4(BAP1):c.1179G>T (p.Gln393His)
|
rs771803950
|
0.00001
|
|
NM_004656.4(BAP1):c.1208A>G (p.Asp403Gly)
|
rs746308215
|
0.00001
|
|
NM_004656.4(BAP1):c.1210G>A (p.Asp404Asn)
|
rs1035262201
|
0.00001
|
|
NM_004656.4(BAP1):c.1213G>A (p.Glu405Lys)
|
rs1705082679
|
0.00001
|
|
NM_004656.4(BAP1):c.123-3C>T
|
rs543305514
|
0.00001
|
|
NM_004656.4(BAP1):c.1238A>C (p.Asn413Thr)
|
rs1231899667
|
0.00001
|
|
NM_004656.4(BAP1):c.1251-3C>T
|
rs767276752
|
0.00001
|
|
NM_004656.4(BAP1):c.1251-4A>G
|
rs750343039
|
0.00001
|
|
NM_004656.4(BAP1):c.1253A>G (p.Tyr418Cys)
|
rs773947541
|
0.00001
|
|
NM_004656.4(BAP1):c.1331C>T (p.Thr444Ile)
|
rs1290996849
|
0.00001
|
|
NM_004656.4(BAP1):c.1358A>G (p.Lys453Arg)
|
rs758996824
|
0.00001
|
|
NM_004656.4(BAP1):c.1393A>G (p.Ile465Val)
|
rs150029305
|
0.00001
|
|
NM_004656.4(BAP1):c.1421C>T (p.Pro474Leu)
|
rs770422186
|
0.00001
|
|
NM_004656.4(BAP1):c.1547C>T (p.Pro516Leu)
|
rs755719248
|
0.00001
|
|
NM_004656.4(BAP1):c.1550C>T (p.Thr517Met)
|
rs764748646
|
0.00001
|
|
NM_004656.4(BAP1):c.1555C>T (p.Pro519Ser)
|
rs759622893
|
0.00001
|
|
NM_004656.4(BAP1):c.1621G>A (p.Val541Ile)
|
rs1403009542
|
0.00001
|
|
NM_004656.4(BAP1):c.1634G>A (p.Arg545His)
|
rs71651687
|
0.00001
|
|
NM_004656.4(BAP1):c.1642C>T (p.Arg548Cys)
|
rs748853790
|
0.00001
|
|
NM_004656.4(BAP1):c.1643G>A (p.Arg548His)
|
rs779877855
|
0.00001
|
|
NM_004656.4(BAP1):c.1651C>T (p.Arg551Cys)
|
rs755664216
|
0.00001
|
|
NM_004656.4(BAP1):c.1669A>G (p.Ile557Val)
|
rs776549962
|
0.00001
|
|
NM_004656.4(BAP1):c.1712G>A (p.Ser571Asn)
|
rs909772484
|
0.00001
|
|
NM_004656.4(BAP1):c.1721C>T (p.Ala574Val)
|
rs761596789
|
0.00001
|
|
NM_004656.4(BAP1):c.1748C>T (p.Ser583Leu)
|
rs369259771
|
0.00001
|
|
NM_004656.4(BAP1):c.1751C>A (p.Pro584His)
|
rs374877744
|
0.00001
|
|
NM_004656.4(BAP1):c.1763C>G (p.Pro588Arg)
|
rs780338105
|
0.00001
|
|
NM_004656.4(BAP1):c.1769A>T (p.Gln590Leu)
|
rs756472919
|
0.00001
|
|
NM_004656.4(BAP1):c.1790G>T (p.Ser597Ile)
|
rs556046793
|
0.00001
|
|
NM_004656.4(BAP1):c.1801A>G (p.Lys601Glu)
|
rs142059527
|
0.00001
|
|
NM_004656.4(BAP1):c.1805A>T (p.Glu602Val)
|
rs144993791
|
0.00001
|
|
NM_004656.4(BAP1):c.1820C>T (p.Thr607Met)
|
rs770654975
|
0.00001
|
|
NM_004656.4(BAP1):c.1825A>G (p.Ser609Gly)
|
rs1313950203
|
0.00001
|
|
NM_004656.4(BAP1):c.1833G>C (p.Glu611Asp)
|
rs771494475
|
0.00001
|
|
NM_004656.4(BAP1):c.1843A>G (p.Met615Val)
|
rs1183229867
|
0.00001
|
|
NM_004656.4(BAP1):c.190A>G (p.Thr64Ala)
|
rs1060503733
|
0.00001
|
|
NM_004656.4(BAP1):c.1926G>C (p.Glu642Asp)
|
rs1386810597
|
0.00001
|
|
NM_004656.4(BAP1):c.2014G>A (p.Asp672Asn)
|
rs144881611
|
0.00001
|
|
NM_004656.4(BAP1):c.2165G>A (p.Arg722His)
|
rs1272136993
|
0.00001
|
|
NM_004656.4(BAP1):c.2185C>T (p.Gln729Ter)
|
rs1412940366
|
0.00001
|
|
NM_004656.4(BAP1):c.227T>C (p.Ile76Thr)
|
rs1221534458
|
0.00001
|
|
NM_004656.4(BAP1):c.256-3C>A
|
rs752536342
|
0.00001
|
|
NM_004656.4(BAP1):c.341G>A (p.Arg114His)
|
rs773494626
|
0.00001
|
|
NM_004656.4(BAP1):c.448C>T (p.Arg150Cys)
|
rs548946316
|
0.00001
|
|
NM_004656.4(BAP1):c.449G>A (p.Arg150His)
|
rs1578226535
|
0.00001
|
|
NM_004656.4(BAP1):c.487C>T (p.Arg163Trp)
|
rs1385279115
|
0.00001
|
|
NM_004656.4(BAP1):c.526A>G (p.Ile176Val)
|
rs1040041070
|
0.00001
|
|
NM_004656.4(BAP1):c.536G>A (p.Arg179Gln)
|
rs1440561167
|
0.00001
|
|
NM_004656.4(BAP1):c.581-4C>T
|
rs1578225974
|
0.00001
|
|
NM_004656.4(BAP1):c.589G>C (p.Gly197Arg)
|
rs1060503739
|
0.00001
|
|
NM_004656.4(BAP1):c.631A>G (p.Met211Val)
|
rs1578225825
|
0.00001
|
|
NM_004656.4(BAP1):c.67+5G>C
|
rs1033651300
|
0.00001
|
|
NM_004656.4(BAP1):c.722A>G (p.Tyr241Cys)
|
rs367867008
|
0.00001
|
|
NM_004656.4(BAP1):c.74A>G (p.Lys25Arg)
|
rs759337168
|
0.00001
|
|
NM_004656.4(BAP1):c.754C>T (p.Arg252Cys)
|
rs764891422
|
0.00001
|
|
NM_004656.4(BAP1):c.783+2T>C
|
rs774730309
|
0.00001
|
|
NM_004656.4(BAP1):c.791G>C (p.Arg264Thr)
|
rs978943999
|
0.00001
|
|
NM_004656.4(BAP1):c.806A>G (p.Glu269Gly)
|
rs1187708513
|
0.00001
|
|
NM_004656.4(BAP1):c.832G>A (p.Glu278Lys)
|
rs892726365
|
0.00001
|
|
NM_004656.4(BAP1):c.860C>T (p.Ser287Leu)
|
rs1270986936
|
0.00001
|
|
NM_004656.4(BAP1):c.947C>T (p.Ala316Val)
|
rs1365625070
|
0.00001
|
|
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)
|
rs1057520520
|
0.00001
|
|
NM_005359.6(SMAD4):c.668-7C>T
|
rs1060504028
|
0.00001
|
|
NM_005359.6(SMAD4):c.870C>T (p.His290=)
|
rs1060504029
|
0.00001
|
|
NM_005359.6(SMAD4):c.884C>T (p.Pro295Leu)
|
rs370176106
|
0.00001
|
|
NM_005902.4(SMAD3):c.1009+5A>C
|
rs772995932
|
0.00001
|
|
NM_005902.4(SMAD3):c.1009+6C>T
|
rs749052145
|
0.00001
|
|
NM_005902.4(SMAD3):c.1010-10T>C
|
rs1179340088
|
0.00001
|
|
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)
|
rs863223746
|
0.00001
|
|
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile)
|
rs730880216
|
0.00001
|
|
NM_005902.4(SMAD3):c.179T>C (p.Val60Ala)
|
rs1242358787
|
0.00001
|
|
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)
|
rs1343295267
|
0.00001
|
|
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys)
|
rs1085307496
|
0.00001
|
|
NM_005902.4(SMAD3):c.323T>G (p.Leu108Arg)
|
rs1962538901
|
0.00001
|
|
NM_005902.4(SMAD3):c.502G>A (p.Ala168Thr)
|
rs548756379
|
0.00001
|
|
NM_005902.4(SMAD3):c.533-13_533-10del
|
rs752716057
|
0.00001
|
|
NM_005902.4(SMAD3):c.613C>T (p.Pro205Ser)
|
rs150682850
|
0.00001
|
|
NM_005902.4(SMAD3):c.633G>A (p.Pro211=)
|
rs776009102
|
0.00001
|
|
NM_005902.4(SMAD3):c.798G>A (p.Ser266=)
|
rs761391442
|
0.00001
|
|
NM_005902.4(SMAD3):c.981C>G (p.His327Gln)
|
rs780274581
|
0.00001
|
|
NM_007194.4(CHEK2):c.1009-7T>G
|
rs763174055
|
0.00001
|
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
|
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly)
|
rs760449049
|
0.00001
|
|
NM_007194.4(CHEK2):c.112A>G (p.Ile38Val)
|
rs774192195
|
0.00001
|
|
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)
|
rs587780169
|
0.00001
|
|
NM_007194.4(CHEK2):c.1196T>A (p.Val399Asp)
|
rs527878975
|
0.00001
|
|
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser)
|
rs369070738
|
0.00001
|
|
NM_007194.4(CHEK2):c.1260-1G>A
|
rs786201906
|
0.00001
|
|
NM_007194.4(CHEK2):c.1260-8A>G
|
rs863224747
|
0.00001
|
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
|
NM_007194.4(CHEK2):c.132C>T (p.Ser44=)
|
rs199715101
|
0.00001
|
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
|
NM_007194.4(CHEK2):c.1374A>G (p.Lys458=)
|
rs776093527
|
0.00001
|
|
NM_007194.4(CHEK2):c.1376-12T>C
|
rs876660970
|
0.00001
|
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
|
NM_007194.4(CHEK2):c.1461+4G>A
|
rs1057522400
|
0.00001
|
|
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn)
|
rs886041173
|
0.00001
|
|
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe)
|
rs28909981
|
0.00001
|
|
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val)
|
rs876660898
|
0.00001
|
|
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His)
|
rs948928965
|
0.00001
|
|
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp)
|
rs751653049
|
0.00001
|
|
NM_007194.4(CHEK2):c.1588G>A (p.Ala530Thr)
|
rs1444665408
|
0.00001
|
|
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys)
|
rs587781710
|
0.00001
|
|
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)
|
rs758555487
|
0.00001
|
|
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys)
|
rs769819013
|
0.00001
|
|
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)
|
rs1064793817
|
0.00001
|
|
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)
|
rs876660788
|
0.00001
|
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
|
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=)
|
rs200917541
|
0.00001
|
|
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr)
|
rs1060502688
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+3A>G
|
rs587781279
|
0.00001
|
|
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)
|
rs587781652
|
0.00001
|
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
|
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile)
|
rs730881684
|
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.592+3A>T
|
rs587782849
|
0.00001
|
|
NM_007194.4(CHEK2):c.645A>G (p.Ala215=)
|
rs761630560
|
0.00001
|
|
NM_007194.4(CHEK2):c.664A>G (p.Met222Val)
|
rs786203472
|
0.00001
|
|
NM_007194.4(CHEK2):c.792+5G>C
|
rs876658514
|
0.00001
|
|
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser)
|
rs587782196
|
0.00001
|
|
NM_007194.4(CHEK2):c.846+1G>C
|
rs864622149
|
0.00001
|
|
NM_007194.4(CHEK2):c.846+3A>G
|
rs1476026799
|
0.00001
|
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
|
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu)
|
rs587782416
|
0.00001
|
|
NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu)
|
rs55842957
|
0.00001
|
|
NM_007294.4(BRCA1):c.1030G>A (p.Ala344Thr)
|
rs79727659
|
0.00001
|
|
NM_007294.4(BRCA1):c.1075C>T (p.Pro359Ser)
|
rs767666190
|
0.00001
|
|
NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro)
|
rs80356946
|
0.00001
|
|
NM_007294.4(BRCA1):c.1134C>A (p.Ser378Arg)
|
rs863224752
|
0.00001
|
|
NM_007294.4(BRCA1):c.1264T>C (p.Tyr422His)
|
rs764186025
|
0.00001
|
|
NM_007294.4(BRCA1):c.1270G>A (p.Gly424Ser)
|
rs763051683
|
0.00001
|
|
NM_007294.4(BRCA1):c.1286T>C (p.Ile429Thr)
|
rs775869160
|
0.00001
|
|
NM_007294.4(BRCA1):c.1301G>A (p.Ser434Asn)
|
rs1485510803
|
0.00001
|
|
NM_007294.4(BRCA1):c.1309C>T (p.His437Tyr)
|
rs759878392
|
0.00001
|
|
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln)
|
rs80356915
|
0.00001
|
|
NM_007294.4(BRCA1):c.1336A>G (p.Arg446Gly)
|
rs587781715
|
0.00001
|
|
NM_007294.4(BRCA1):c.133A>C (p.Lys45Gln)
|
rs769650474
|
0.00001
|
|
NM_007294.4(BRCA1):c.1349A>G (p.Lys450Arg)
|
rs778668550
|
0.00001
|
|
NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr)
|
rs80357360
|
0.00001
|
|
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu)
|
rs62625300
|
0.00001
|
|
NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu)
|
rs56046357
|
0.00001
|
|
NM_007294.4(BRCA1):c.1384G>A (p.Gly462Arg)
|
rs80357221
|
0.00001
|
|
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp)
|
rs80356964
|
0.00001
|
|
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)
|
rs199540030
|
0.00001
|
|
NM_007294.4(BRCA1):c.1448T>C (p.Ile483Thr)
|
rs80357489
|
0.00001
|
|
NM_007294.4(BRCA1):c.144G>A (p.Met48Ile)
|
rs587783040
|
0.00001
|
|
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys)
|
rs80357445
|
0.00001
|
|
NM_007294.4(BRCA1):c.1555A>C (p.Lys519Gln)
|
rs397508882
|
0.00001
|
|
NM_007294.4(BRCA1):c.1581G>C (p.Lys527Asn)
|
rs80357493
|
0.00001
|
|
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp)
|
rs398122639
|
0.00001
|
|
NM_007294.4(BRCA1):c.1654G>A (p.Gly552Ser)
|
rs758598971
|
0.00001
|
|
NM_007294.4(BRCA1):c.16C>T (p.Leu6Phe)
|
rs1315262605
|
0.00001
|
|
NM_007294.4(BRCA1):c.1702C>T (p.Pro568Ser)
|
rs755122577
|
0.00001
|
|
NM_007294.4(BRCA1):c.1703C>G (p.Pro568Arg)
|
rs80356910
|
0.00001
|
|
NM_007294.4(BRCA1):c.1711A>G (p.Ile571Val)
|
rs1310719199
|
0.00001
|
|
NM_007294.4(BRCA1):c.1713A>G (p.Ile571Met)
|
rs552505690
|
0.00001
|
|
NM_007294.4(BRCA1):c.172C>G (p.Pro58Ala)
|
rs397508904
|
0.00001
|
|
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met)
|
rs786202386
|
0.00001
|
|
NM_007294.4(BRCA1):c.1759A>G (p.Ile587Val)
|
rs1597874361
|
0.00001
|
|
NM_007294.4(BRCA1):c.1766G>T (p.Ser589Ile)
|
rs1567798335
|
0.00001
|
|
NM_007294.4(BRCA1):c.1786C>T (p.Leu596Phe)
|
rs80357371
|
0.00001
|
|
NM_007294.4(BRCA1):c.1819A>G (p.Lys607Glu)
|
rs80357220
|
0.00001
|
|
NM_007294.4(BRCA1):c.1838G>A (p.Arg613Lys)
|
rs786203937
|
0.00001
|
|
NM_007294.4(BRCA1):c.1879G>A (p.Val627Ile)
|
rs80357425
|
0.00001
|
|
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser)
|
rs80356902
|
0.00001
|
|
NM_007294.4(BRCA1):c.1898C>T (p.Pro633Leu)
|
rs398122647
|
0.00001
|
|
NM_007294.4(BRCA1):c.1907G>A (p.Cys636Tyr)
|
rs398122649
|
0.00001
|
|
NM_007294.4(BRCA1):c.1920A>T (p.Gln640His)
|
rs587782843
|
0.00001
|
|
NM_007294.4(BRCA1):c.1922T>C (p.Ile641Thr)
|
rs730881474
|
0.00001
|
|
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His)
|
rs80357344
|
0.00001
|
|
NM_007294.4(BRCA1):c.1934C>A (p.Ser645Tyr)
|
rs80357129
|
0.00001
|
|
NM_007294.4(BRCA1):c.1945G>C (p.Glu649Gln)
|
rs80356907
|
0.00001
|
|
NM_007294.4(BRCA1):c.1978G>A (p.Val660Ile)
|
rs876660889
|
0.00001
|
|
NM_007294.4(BRCA1):c.2043T>G (p.Ser681Arg)
|
rs143920945
|
0.00001
|
|
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)
|
rs397508934
|
0.00001
|
|
NM_007294.4(BRCA1):c.2074C>T (p.His692Tyr)
|
rs545736576
|
0.00001
|
|
NM_007294.4(BRCA1):c.2078A>G (p.Asp693Gly)
|
rs756748588
|
0.00001
|
|
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)
|
rs144792613
|
0.00001
|
|
NM_007294.4(BRCA1):c.2119G>C (p.Gly707Arg)
|
rs587781420
|
0.00001
|
|
NM_007294.4(BRCA1):c.2140A>G (p.Asn714Asp)
|
rs568312345
|
0.00001
|
|
NM_007294.4(BRCA1):c.2146A>G (p.Ser716Gly)
|
rs2053817086
|
0.00001
|
|
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu)
|
rs80356912
|
0.00001
|
|
NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys)
|
rs80357335
|
0.00001
|
|
NM_007294.4(BRCA1):c.2207A>C (p.Glu736Ala)
|
rs397507196
|
0.00001
|
|
NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys)
|
rs80357051
|
0.00001
|
|
NM_007294.4(BRCA1):c.222A>C (p.Gln74His)
|
rs730881465
|
0.00001
|
|
NM_007294.4(BRCA1):c.2246A>T (p.Asp749Val)
|
rs730881479
|
0.00001
|
|
NM_007294.4(BRCA1):c.2252T>C (p.Met751Thr)
|
rs587781684
|
0.00001
|
|
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser)
|
rs80356884
|
0.00001
|
|
NM_007294.4(BRCA1):c.2296A>G (p.Ser766Gly)
|
rs398122655
|
0.00001
|
|
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)
|
rs80357209
|
0.00001
|
|
NM_007294.4(BRCA1):c.2312T>C (p.Leu771Ser)
|
rs730881481
|
0.00001
|
|
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp)
|
rs397507199
|
0.00001
|
|
NM_007294.4(BRCA1):c.2333G>A (p.Gly778Asp)
|
rs730881483
|
0.00001
|
|
NM_007294.4(BRCA1):c.2339A>G (p.Gln780Arg)
|
rs1410232200
|
0.00001
|
|
NM_007294.4(BRCA1):c.2344A>G (p.Ser782Gly)
|
rs1433746078
|
0.00001
|
|
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val)
|
rs80356948
|
0.00001
|
|
NM_007294.4(BRCA1):c.2362G>A (p.Val788Ile)
|
rs80357060
|
0.00001
|
|
NM_007294.4(BRCA1):c.2392C>T (p.Pro798Ser)
|
rs398122658
|
0.00001
|
|
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu)
|
rs876660005
|
0.00001
|
|
NM_007294.4(BRCA1):c.2425G>A (p.Glu809Lys)
|
rs786204151
|
0.00001
|
|
NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile)
|
rs876659731
|
0.00001
|
|
NM_007294.4(BRCA1):c.2483_2485del (p.Gly828_Phe829delinsVal)
|
rs80358331
|
0.00001
|
|
NM_007294.4(BRCA1):c.2503C>T (p.His835Tyr)
|
rs751656678
|
0.00001
|
|
NM_007294.4(BRCA1):c.2551G>A (p.Glu851Lys)
|
rs398122662
|
0.00001
|
|
NM_007294.4(BRCA1):c.2555T>C (p.Leu852Pro)
|
rs1555589415
|
0.00001
|
|
NM_007294.4(BRCA1):c.255G>T (p.Glu85Asp)
|
rs756499058
|
0.00001
|
|
NM_007294.4(BRCA1):c.2564A>C (p.Gln855Pro)
|
rs768001441
|
0.00001
|
|
NM_007294.4(BRCA1):c.2564A>T (p.Gln855Leu)
|
rs768001441
|
0.00001
|
|
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
|
rs80356927
|
0.00001
|
|
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)
|
rs80356911
|
0.00001
|
|
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=)
|
rs587782608
|
0.00001
|
|
NM_007294.4(BRCA1):c.2666C>T (p.Ser889Phe)
|
rs769712441
|
0.00001
|
|
NM_007294.4(BRCA1):c.267C>G (p.Ile89Met)
|
rs80356963
|
0.00001
|
|
NM_007294.4(BRCA1):c.2690C>T (p.Pro897Leu)
|
rs587776484
|
0.00001
|
|
NM_007294.4(BRCA1):c.2706A>C (p.Glu902Asp)
|
rs398122665
|
0.00001
|
|
NM_007294.4(BRCA1):c.2734A>C (p.Lys912Gln)
|
rs1555589048
|
0.00001
|
|
NM_007294.4(BRCA1):c.2738A>G (p.Asn913Ser)
|
rs199954851
|
0.00001
|
|
NM_007294.4(BRCA1):c.2747A>T (p.Asn916Ile)
|
rs864622588
|
0.00001
|
|
NM_007294.4(BRCA1):c.2750T>C (p.Ile917Thr)
|
rs587781492
|
0.00001
|
|
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile)
|
rs80357361
|
0.00001
|
|
NM_007294.4(BRCA1):c.2765C>G (p.Thr922Arg)
|
rs80357460
|
0.00001
|
|
NM_007294.4(BRCA1):c.2782G>A (p.Gly928Ser)
|
rs80356995
|
0.00001
|
|
NM_007294.4(BRCA1):c.2791G>T (p.Val931Leu)
|
rs763639161
|
0.00001
|
|
NM_007294.4(BRCA1):c.2808T>G (p.Asp936Glu)
|
rs730881485
|
0.00001
|
|
NM_007294.4(BRCA1):c.2819A>G (p.Asp940Gly)
|
rs745954644
|
0.00001
|
|
NM_007294.4(BRCA1):c.2882A>G (p.Asn961Ser)
|
rs879254130
|
0.00001
|
|
NM_007294.4(BRCA1):c.2885A>G (p.Glu962Gly)
|
rs780367532
|
0.00001
|
|
NM_007294.4(BRCA1):c.2902C>T (p.Pro968Ser)
|
rs1182090591
|
0.00001
|
|
NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn)
|
rs431825394
|
0.00001
|
|
NM_007294.4(BRCA1):c.2981G>A (p.Cys994Tyr)
|
rs1238452758
|
0.00001
|
|
NM_007294.4(BRCA1):c.3004A>G (p.Asn1002Asp)
|
rs786202665
|
0.00001
|
|
NM_007294.4(BRCA1):c.3010G>C (p.Glu1004Gln)
|
rs786202534
|
0.00001
|
|
NM_007294.4(BRCA1):c.3040A>T (p.Met1014Leu)
|
rs80356933
|
0.00001
|
|
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)
|
rs80357311
|
0.00001
|
|
NM_007294.4(BRCA1):c.3092T>G (p.Ile1031Ser)
|
rs863224758
|
0.00001
|
|
NM_007294.4(BRCA1):c.3116C>T (p.Ala1039Val)
|
rs1173254670
|
0.00001
|
|
NM_007294.4(BRCA1):c.3155A>G (p.Asn1052Ser)
|
rs398122672
|
0.00001
|
|
NM_007294.4(BRCA1):c.3160G>A (p.Val1054Met)
|
rs876658479
|
0.00001
|
|
NM_007294.4(BRCA1):c.3166T>C (p.Ser1056Pro)
|
rs876659601
|
0.00001
|
|
NM_007294.4(BRCA1):c.3169A>G (p.Ser1057Gly)
|
rs80357479
|
0.00001
|
|
NM_007294.4(BRCA1):c.3170G>A (p.Ser1057Asn)
|
rs587776487
|
0.00001
|
|
NM_007294.4(BRCA1):c.3211G>A (p.Glu1071Lys)
|
rs41293445
|
0.00001
|
|
NM_007294.4(BRCA1):c.3220A>G (p.Arg1074Gly)
|
rs80357263
|
0.00001
|
|
NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr)
|
rs786202155
|
0.00001
|
|
NM_007294.4(BRCA1):c.3250C>A (p.Leu1084Ile)
|
rs879254009
|
0.00001
|
|
NM_007294.4(BRCA1):c.3260G>C (p.Gly1087Ala)
|
rs80357172
|
0.00001
|
|
NM_007294.4(BRCA1):c.3267G>T (p.Leu1089Phe)
|
rs767544239
|
0.00001
|
|
NM_007294.4(BRCA1):c.3276G>T (p.Glu1092Asp)
|
rs764458412
|
0.00001
|
|
NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser)
|
rs80356900
|
0.00001
|
|
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn)
|
rs41293449
|
0.00001
|
|
NM_007294.4(BRCA1):c.3358G>A (p.Val1120Ile)
|
rs748894760
|
0.00001
|
|
NM_007294.4(BRCA1):c.3359T>A (p.Val1120Asp)
|
rs1361427704
|
0.00001
|
|
NM_007294.4(BRCA1):c.3411G>A (p.Met1137Ile)
|
rs786202900
|
0.00001
|
|
NM_007294.4(BRCA1):c.3488C>T (p.Thr1163Ile)
|
rs80356918
|
0.00001
|
|
NM_007294.4(BRCA1):c.3510T>G (p.Ile1170Met)
|
rs183119644
|
0.00001
|
|
NM_007294.4(BRCA1):c.3518G>A (p.Ser1173Asn)
|
rs746949187
|
0.00001
|
|
NM_007294.4(BRCA1):c.3533G>A (p.Ser1178Asn)
|
rs1294360179
|
0.00001
|
|
NM_007294.4(BRCA1):c.3560G>A (p.Ser1187Asn)
|
rs80356975
|
0.00001
|
|
NM_007294.4(BRCA1):c.3564G>C (p.Arg1188Ser)
|
rs879255484
|
0.00001
|
|
NM_007294.4(BRCA1):c.3572G>A (p.Ser1191Asn)
|
rs878854948
|
0.00001
|
|
NM_007294.4(BRCA1):c.3574C>T (p.Pro1192Ser)
|
rs754014157
|
0.00001
|
|
NM_007294.4(BRCA1):c.3581C>T (p.Thr1194Ile)
|
rs80357290
|
0.00001
|
|
NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile)
|
rs80356944
|
0.00001
|
|
NM_007294.4(BRCA1):c.3625T>G (p.Leu1209Val)
|
rs273900711
|
0.00001
|
|
NM_007294.4(BRCA1):c.3650C>G (p.Ser1217Cys)
|
rs398122676
|
0.00001
|
|
NM_007294.4(BRCA1):c.3659A>T (p.Asp1220Val)
|
rs766572561
|
0.00001
|
|
NM_007294.4(BRCA1):c.370A>G (p.Ile124Val)
|
rs80357448
|
0.00001
|
|
NM_007294.4(BRCA1):c.3717T>A (p.Ser1239=)
|
rs730881453
|
0.00001
|
|
NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala)
|
rs80357037
|
0.00001
|
|
NM_007294.4(BRCA1):c.3750G>C (p.Glu1250Asp)
|
rs145903082
|
0.00001
|
|
NM_007294.4(BRCA1):c.3784T>C (p.Ser1262Pro)
|
rs1011096937
|
0.00001
|
|
NM_007294.4(BRCA1):c.3800T>C (p.Leu1267Ser)
|
rs587782190
|
0.00001
|
|
NM_007294.4(BRCA1):c.3815A>G (p.Asn1272Ser)
|
rs772703445
|
0.00001
|
|
NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr)
|
rs80357036
|
0.00001
|
|
NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr)
|
rs142383077
|
0.00001
|
|
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu)
|
rs80357254
|
0.00001
|
|
NM_007294.4(BRCA1):c.3869A>C (p.Lys1290Thr)
|
rs431825401
|
0.00001
|
|
NM_007294.4(BRCA1):c.3872G>A (p.Cys1291Tyr)
|
rs781212379
|
0.00001
|
|
NM_007294.4(BRCA1):c.3889T>A (p.Ser1297Thr)
|
rs1450793674
|
0.00001
|
|
NM_007294.4(BRCA1):c.3902G>A (p.Ser1301Asn)
|
rs1057519496
|
0.00001
|
|
NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg)
|
rs80357500
|
0.00001
|
|
NM_007294.4(BRCA1):c.3965A>G (p.Lys1322Arg)
|
rs80357042
|
0.00001
|
|
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys)
|
rs80357457
|
0.00001
|
|
NM_007294.4(BRCA1):c.3995G>T (p.Gly1332Val)
|
rs730881490
|
0.00001
|
|
NM_007294.4(BRCA1):c.3998T>C (p.Val1333Ala)
|
rs1135401872
|
0.00001
|
|
NM_007294.4(BRCA1):c.4006A>T (p.Ser1336Cys)
|
rs976725810
|
0.00001
|
|
NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly)
|
rs55639854
|
0.00001
|
|
NM_007294.4(BRCA1):c.4045A>C (p.Thr1349Pro)
|
rs80357231
|
0.00001
|
|
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly)
|
rs397507225
|
0.00001
|
|
NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu)
|
rs80357218
|
0.00001
|
|
NM_007294.4(BRCA1):c.4084G>A (p.Asp1362Asn)
|
rs775463394
|
0.00001
|
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
|
NM_007294.4(BRCA1):c.4097-2A>G
|
rs80358019
|
0.00001
|
|
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg)
|
rs80356986
|
0.00001
|
|
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
|
rs78951648
|
0.00001
|
|
NM_007294.4(BRCA1):c.4185+9C>T
|
rs80358034
|
0.00001
|
|
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr)
|
rs80357365
|
0.00001
|
|
NM_007294.4(BRCA1):c.4339C>A (p.Gln1447Lys)
|
rs80357067
|
0.00001
|
|
NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=)
|
rs1250691798
|
0.00001
|
|
NM_007294.4(BRCA1):c.4352A>G (p.Glu1451Gly)
|
rs949793708
|
0.00001
|
|
NM_007294.4(BRCA1):c.4361T>C (p.Val1454Ala)
|
rs587782606
|
0.00001
|
|
NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys)
|
rs141255461
|
0.00001
|
|
NM_007294.4(BRCA1):c.4393A>G (p.Ile1465Val)
|
rs1567779778
|
0.00001
|
|
NM_007294.4(BRCA1):c.4480G>A (p.Glu1494Lys)
|
rs80357148
|
0.00001
|
|
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr)
|
rs80357470
|
0.00001
|
|
NM_007294.4(BRCA1):c.4549C>T (p.Leu1517Phe)
|
rs137894496
|
0.00001
|
|
NM_007294.4(BRCA1):c.455T>C (p.Leu152Pro)
|
rs80357275
|
0.00001
|
|
NM_007294.4(BRCA1):c.4585A>G (p.Ile1529Val)
|
rs80357095
|
0.00001
|
|
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro)
|
rs80356909
|
0.00001
|
|
NM_007294.4(BRCA1):c.4730C>A (p.Ser1577Tyr)
|
rs273901741
|
0.00001
|
|
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys)
|
rs761925468
|
0.00001
|
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
|
NM_007294.4(BRCA1):c.484G>C (p.Val162Leu)
|
rs55816927
|
0.00001
|
|
NM_007294.4(BRCA1):c.4892G>A (p.Ser1631Asn)
|
rs273901742
|
0.00001
|
|
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)
|
rs80357048
|
0.00001
|
|
NM_007294.4(BRCA1):c.4931A>G (p.Glu1644Gly)
|
rs80357016
|
0.00001
|
|
NM_007294.4(BRCA1):c.4949T>C (p.Met1650Thr)
|
rs778487856
|
0.00001
|
|
NM_007294.4(BRCA1):c.4991T>C (p.Leu1664Pro)
|
rs80357314
|
0.00001
|
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
|
NM_007294.4(BRCA1):c.5101C>A (p.Leu1701Met)
|
rs910555398
|
0.00001
|
|
NM_007294.4(BRCA1):c.5129G>A (p.Gly1710Glu)
|
rs398122691
|
0.00001
|
|
NM_007294.4(BRCA1):c.5153-13A>G
|
rs45471406
|
0.00001
|
|
NM_007294.4(BRCA1):c.5153-3T>C
|
rs375639469
|
0.00001
|
|
NM_007294.4(BRCA1):c.5177G>T (p.Arg1726Ile)
|
rs786203547
|
0.00001
|
|
NM_007294.4(BRCA1):c.5277+3A>G
|
rs397509250
|
0.00001
|
|
NM_007294.4(BRCA1):c.5318C>T (p.Thr1773Ile)
|
rs80357428
|
0.00001
|
|
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu)
|
rs398122695
|
0.00001
|
|
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)
|
rs80357041
|
0.00001
|
|
NM_007294.4(BRCA1):c.5343A>C (p.Glu1781Asp)
|
rs1555575182
|
0.00001
|
|
NM_007294.4(BRCA1):c.5382G>C (p.Glu1794Asp)
|
rs397509275
|
0.00001
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
0.00001
|
|
NM_007294.4(BRCA1):c.5402G>A (p.Gly1801Asp)
|
rs531210457
|
0.00001
|
|
NM_007294.4(BRCA1):c.5419A>G (p.Ile1807Val)
|
rs786202721
|
0.00001
|
|
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser)
|
rs80357286
|
0.00001
|
|
NM_007294.4(BRCA1):c.5481G>A (p.Met1827Ile)
|
rs587782432
|
0.00001
|
|
NM_007294.4(BRCA1):c.5492C>G (p.Pro1831Arg)
|
rs587782778
|
0.00001
|
|
NM_007294.4(BRCA1):c.5501C>T (p.Thr1834Ile)
|
rs730881500
|
0.00001
|
|
NM_007294.4(BRCA1):c.5538G>C (p.Gln1846His)
|
rs80356849
|
0.00001
|
|
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)
|
rs755427809
|
0.00001
|
|
NM_007294.4(BRCA1):c.61A>G (p.Ile21Val)
|
rs80357406
|
0.00001
|
|
NM_007294.4(BRCA1):c.655G>A (p.Asp219Asn)
|
rs273902779
|
0.00001
|
|
NM_007294.4(BRCA1):c.701C>A (p.Thr234Lys)
|
rs1555593290
|
0.00001
|
|
NM_007294.4(BRCA1):c.716A>G (p.His239Arg)
|
rs80357396
|
0.00001
|
|
NM_007294.4(BRCA1):c.729T>G (p.Asn243Lys)
|
rs730881467
|
0.00001
|
|
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val)
|
rs80356865
|
0.00001
|
|
NM_007294.4(BRCA1):c.788G>A (p.Gly263Asp)
|
rs397509319
|
0.00001
|
|
NM_007294.4(BRCA1):c.799T>C (p.Ser267Pro)
|
rs587781496
|
0.00001
|
|
NM_007294.4(BRCA1):c.86A>G (p.Glu29Gly)
|
rs773841328
|
0.00001
|
|
NM_007294.4(BRCA1):c.886A>G (p.Arg296Gly)
|
rs748675395
|
0.00001
|
|
NM_007294.4(BRCA1):c.919A>G (p.Lys307Glu)
|
rs1216516227
|
0.00001
|
|
NM_007294.4(BRCA1):c.923G>C (p.Ser308Thr)
|
rs561998108
|
0.00001
|
|
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro)
|
rs80357252
|
0.00001
|
|
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg)
|
rs748156170
|
0.00001
|
|
NM_007294.4(BRCA1):c.985A>T (p.Asn329Tyr)
|
rs786203732
|
0.00001
|
|
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)
|
rs80357464
|
0.00001
|
|
NM_007294.4(BRCA1):c.996G>T (p.Arg332=)
|
rs80356836
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=)
|
rs767902787
|
0.00001
|
|
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=)
|
rs373000537
|
0.00001
|
|
NM_017841.4(SDHAF2):c.347G>A (p.Trp116Ter)
|
rs876658350
|
0.00001
|
|
NM_017841.4(SDHAF2):c.360C>T (p.Tyr120=)
|
rs1328610836
|
0.00001
|
|
NM_020975.6(RET):c.1165C>T (p.Leu389Phe)
|
rs895556824
|
0.00001
|
|
NM_020975.6(RET):c.1538C>G (p.Ala513Gly)
|
rs149238501
|
0.00001
|
|
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)
|
rs543376293
|
0.00001
|
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
|
NM_020975.6(RET):c.2752A>G (p.Met918Val)
|
rs377767442
|
0.00001
|
|
NM_020975.6(RET):c.2945G>A (p.Arg982His)
|
rs368550200
|
0.00001
|
|
NM_020975.6(RET):c.3188-15T>A
|
rs1588881831
|
0.00001
|
|
NM_020975.6(RET):c.334C>T (p.Arg112Cys)
|
rs762626209
|
0.00001
|
|
NM_020975.6(RET):c.431G>A (p.Arg144His)
|
rs551142665
|
0.00001
|
|
NM_020975.6(RET):c.884C>T (p.Thr295Met)
|
rs758159521
|
0.00001
|
|
NM_020975.6(RET):c.973G>A (p.Ala325Thr)
|
rs779719517
|
0.00001
|
|
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln)
|
rs185611706
|
0.00001
|
|
NM_024422.6(DSC2):c.1620C>G (p.Ile540Met)
|
rs765374888
|
0.00001
|
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
|
NM_024422.6(DSC2):c.474+5C>T
|
rs397517400
|
0.00001
|
|
NM_024426.6(WT1):c.1117G>A (p.Val373Met)
|
rs747377024
|
0.00001
|
|
NM_024675.4(PALB2):c.-5G>T
|
rs730881875
|
0.00001
|
|
NM_024675.4(PALB2):c.1052C>A (p.Thr351Lys)
|
rs876658656
|
0.00001
|
|
NM_024675.4(PALB2):c.1066A>G (p.Lys356Glu)
|
rs1202130508
|
0.00001
|
|
NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser)
|
rs876660876
|
0.00001
|
|
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly)
|
rs876659751
|
0.00001
|
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
|
NM_024675.4(PALB2):c.109-5T>C
|
rs749299119
|
0.00001
|
|
NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp)
|
rs786204080
|
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.1123C>A (p.Leu375Ile)
|
rs373298267
|
0.00001
|
|
NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro)
|
rs1358484245
|
0.00001
|
|
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)
|
rs515726063
|
0.00001
|
|
NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala)
|
rs148102335
|
0.00001
|
|
NM_024675.4(PALB2):c.1181A>T (p.His394Leu)
|
rs762430363
|
0.00001
|
|
NM_024675.4(PALB2):c.119G>A (p.Arg40Lys)
|
rs573118236
|
0.00001
|
|
NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn)
|
rs956172059
|
0.00001
|
|
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)
|
rs587781824
|
0.00001
|
|
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)
|
rs768482110
|
0.00001
|
|
NM_024675.4(PALB2):c.1400G>A (p.Gly467Asp)
|
rs730881906
|
0.00001
|
|
NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala)
|
rs150636811
|
0.00001
|
|
NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp)
|
rs786203176
|
0.00001
|
|
NM_024675.4(PALB2):c.1538C>T (p.Thr513Ile)
|
rs778890869
|
0.00001
|
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
|
NM_024675.4(PALB2):c.155T>C (p.Val52Ala)
|
rs373970237
|
0.00001
|
|
NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala)
|
rs1393117824
|
0.00001
|
|
NM_024675.4(PALB2):c.1627A>G (p.Lys543Glu)
|
rs770908238
|
0.00001
|
|
NM_024675.4(PALB2):c.1659C>G (p.His553Gln)
|
rs370318597
|
0.00001
|
|
NM_024675.4(PALB2):c.1660G>A (p.Glu554Lys)
|
rs377486858
|
0.00001
|
|
NM_024675.4(PALB2):c.1685-3T>C
|
rs1254059410
|
0.00001
|
|
NM_024675.4(PALB2):c.1691A>G (p.Lys564Arg)
|
rs62625276
|
0.00001
|
|
NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)
|
rs746582620
|
0.00001
|
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
|
NM_024675.4(PALB2):c.1732A>G (p.Ser578Gly)
|
rs764023822
|
0.00001
|
|
NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile)
|
rs587780207
|
0.00001
|
|
NM_024675.4(PALB2):c.1765A>G (p.Thr589Ala)
|
rs1437053825
|
0.00001
|
|
NM_024675.4(PALB2):c.1772C>A (p.Pro591Gln)
|
rs761773470
|
0.00001
|
|
NM_024675.4(PALB2):c.1960A>G (p.Ile654Val)
|
rs749842477
|
0.00001
|
|
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)
|
rs62625277
|
0.00001
|
|
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn)
|
rs730881885
|
0.00001
|
|
NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu)
|
rs761478794
|
0.00001
|
|
NM_024675.4(PALB2):c.2087C>T (p.Thr696Met)
|
rs587780820
|
0.00001
|
|
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)
|
rs765942523
|
0.00001
|
|
NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn)
|
rs45537237
|
0.00001
|
|
NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser)
|
rs148335539
|
0.00001
|
|
NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala)
|
rs879254051
|
0.00001
|
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
|
NM_024675.4(PALB2):c.2277A>G (p.Gln759=)
|
rs786202524
|
0.00001
|
|
NM_024675.4(PALB2):c.2290A>G (p.Lys764Glu)
|
rs573744591
|
0.00001
|
|
NM_024675.4(PALB2):c.229T>C (p.Cys77Arg)
|
rs760045493
|
0.00001
|
|
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)
|
rs148026749
|
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.2401G>A (p.Asp801Asn)
|
rs587782765
|
0.00001
|
|
NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe)
|
rs149836639
|
0.00001
|
|
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)
|
rs774502617
|
0.00001
|
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
rs763191051
|
0.00001
|
|
NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg)
|
rs587778585
|
0.00001
|
|
NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu)
|
rs750650768
|
0.00001
|
|
NM_024675.4(PALB2):c.2514+3A>G
|
rs515726088
|
0.00001
|
|
NM_024675.4(PALB2):c.2514+3dup
|
rs587781602
|
0.00001
|
|
NM_024675.4(PALB2):c.2515-11T>C
|
rs780521904
|
0.00001
|
|
NM_024675.4(PALB2):c.2515-14T>A
|
rs752108348
|
0.00001
|
|
NM_024675.4(PALB2):c.2522C>T (p.Thr841Ile)
|
rs1373085553
|
0.00001
|
|
NM_024675.4(PALB2):c.2561A>G (p.Asn854Ser)
|
rs146455175
|
0.00001
|
|
NM_024675.4(PALB2):c.2596G>T (p.Gly866Cys)
|
rs780415750
|
0.00001
|
|
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)
|
rs587782387
|
0.00001
|
|
NM_024675.4(PALB2):c.2677G>T (p.Asp893Tyr)
|
rs765077104
|
0.00001
|
|
NM_024675.4(PALB2):c.2699C>T (p.Ala900Val)
|
rs730881890
|
0.00001
|
|
NM_024675.4(PALB2):c.2725C>G (p.Leu909Val)
|
rs1060502739
|
0.00001
|
|
NM_024675.4(PALB2):c.2753C>A (p.Pro918Gln)
|
rs587780822
|
0.00001
|
|
NM_024675.4(PALB2):c.2782G>A (p.Val928Met)
|
rs771288520
|
0.00001
|
|
NM_024675.4(PALB2):c.2834+5G>A
|
rs570455216
|
0.00001
|
|
NM_024675.4(PALB2):c.2846G>A (p.Cys949Tyr)
|
rs587778588
|
0.00001
|
|
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)
|
rs515726103
|
0.00001
|
|
NM_024675.4(PALB2):c.290C>A (p.Ser97Tyr)
|
rs776902295
|
0.00001
|
|
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn)
|
rs730881892
|
0.00001
|
|
NM_024675.4(PALB2):c.292A>G (p.Ile98Val)
|
rs587782831
|
0.00001
|
|
NM_024675.4(PALB2):c.2947A>T (p.Thr983Ser)
|
rs587782211
|
0.00001
|
|
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)
|
rs61756146
|
0.00001
|
|
NM_024675.4(PALB2):c.303T>G (p.Asp101Glu)
|
rs1417779335
|
0.00001
|
|
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)
|
rs746872839
|
0.00001
|
|
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)
|
rs863224783
|
0.00001
|
|
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)
|
rs756906403
|
0.00001
|
|
NM_024675.4(PALB2):c.3114-5C>T
|
rs753307725
|
0.00001
|
|
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)
|
rs377713277
|
0.00001
|
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
|
NM_024675.4(PALB2):c.3202-9C>T
|
rs757444247
|
0.00001
|
|
NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg)
|
rs202222149
|
0.00001
|
|
NM_024675.4(PALB2):c.3226C>T (p.His1076Tyr)
|
rs1555458224
|
0.00001
|
|
NM_024675.4(PALB2):c.3232T>A (p.Cys1078Ser)
|
rs876659587
|
0.00001
|
|
NM_024675.4(PALB2):c.3278T>C (p.Ile1093Thr)
|
rs45616636
|
0.00001
|
|
NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro)
|
rs149194681
|
0.00001
|
|
NM_024675.4(PALB2):c.3379T>C (p.Cys1127Arg)
|
rs767830005
|
0.00001
|
|
NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val)
|
rs774517454
|
0.00001
|
|
NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr)
|
rs876658196
|
0.00001
|
|
NM_024675.4(PALB2):c.3436C>G (p.Gln1146Glu)
|
rs879254033
|
0.00001
|
|
NM_024675.4(PALB2):c.3476G>T (p.Trp1159Leu)
|
rs587782050
|
0.00001
|
|
NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys)
|
rs587782217
|
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.3545T>C (p.Val1182Ala)
|
rs747149179
|
0.00001
|
|
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)
|
rs118203998
|
0.00001
|
|
NM_024675.4(PALB2):c.380A>G (p.His127Arg)
|
rs863224789
|
0.00001
|
|
NM_024675.4(PALB2):c.406A>T (p.Ser136Cys)
|
rs144496685
|
0.00001
|
|
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser)
|
rs587781498
|
0.00001
|
|
NM_024675.4(PALB2):c.43G>A (p.Glu15Lys)
|
rs730881884
|
0.00001
|
|
NM_024675.4(PALB2):c.481G>C (p.Asp161His)
|
rs769841151
|
0.00001
|
|
NM_024675.4(PALB2):c.509G>C (p.Arg170Thr)
|
rs898765598
|
0.00001
|
|
NM_024675.4(PALB2):c.563C>G (p.Ala188Gly)
|
rs587781975
|
0.00001
|
|
NM_024675.4(PALB2):c.566G>T (p.Arg189Ile)
|
rs764180110
|
0.00001
|
|
NM_024675.4(PALB2):c.587G>A (p.Arg196Lys)
|
rs730881904
|
0.00001
|
|
NM_024675.4(PALB2):c.620C>G (p.Pro207Arg)
|
rs515726125
|
0.00001
|
|
NM_024675.4(PALB2):c.661G>A (p.Val221Ile)
|
rs1060502773
|
0.00001
|
|
NM_024675.4(PALB2):c.718C>A (p.Pro240Thr)
|
rs757567654
|
0.00001
|
|
NM_024675.4(PALB2):c.734C>T (p.Ala245Val)
|
rs571063157
|
0.00001
|
|
NM_024675.4(PALB2):c.739A>G (p.Thr247Ala)
|
rs786203040
|
0.00001
|
|
NM_024675.4(PALB2):c.746C>T (p.Pro249Leu)
|
rs759810283
|
0.00001
|
|
NM_024675.4(PALB2):c.769G>A (p.Gly257Ser)
|
rs587780824
|
0.00001
|
|
NM_024675.4(PALB2):c.813T>A (p.Ser271Arg)
|
rs786203246
|
0.00001
|
|
NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)
|
rs515726127
|
0.00001
|
|
NM_024675.4(PALB2):c.844A>G (p.Arg282Gly)
|
rs45447991
|
0.00001
|
|
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)
|
rs45585833
|
0.00001
|
|
NM_024675.4(PALB2):c.880A>G (p.Lys294Glu)
|
rs753676934
|
0.00001
|
|
NM_024675.4(PALB2):c.892G>A (p.Val298Ile)
|
rs1060502765
|
0.00001
|
|
NM_024675.4(PALB2):c.902A>G (p.Asp301Gly)
|
rs759014440
|
0.00001
|
|
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)
|
rs45561331
|
0.00001
|
|
NM_024675.4(PALB2):c.932A>G (p.Lys311Arg)
|
rs755129205
|
0.00001
|
|
NM_024675.4(PALB2):c.935G>A (p.Ser312Asn)
|
rs1407319475
|
0.00001
|
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
|
NM_032043.3(BRIP1):c.10A>G (p.Met4Val)
|
rs45512093
|
0.00001
|
|
NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)
|
rs148429663
|
0.00001
|
|
NM_032043.3(BRIP1):c.1340+5G>C
|
rs869312791
|
0.00001
|
|
NM_032043.3(BRIP1):c.1357G>A (p.Ala453Thr)
|
rs587780227
|
0.00001
|
|
NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr)
|
rs761452695
|
0.00001
|
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
|
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)
|
rs587782254
|
0.00001
|
|
NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val)
|
rs45533636
|
0.00001
|
|
NM_032043.3(BRIP1):c.1691T>C (p.Ile564Thr)
|
rs755635967
|
0.00001
|
|
NM_032043.3(BRIP1):c.1704T>G (p.Asn568Lys)
|
rs763458922
|
0.00001
|
|
NM_032043.3(BRIP1):c.1736G>A (p.Arg579His)
|
rs768224857
|
0.00001
|
|
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln)
|
rs587778133
|
0.00001
|
|
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)
|
rs189758577
|
0.00001
|
|
NM_032043.3(BRIP1):c.205+3A>G
|
rs539329589
|
0.00001
|
|
NM_032043.3(BRIP1):c.226G>A (p.Val76Ile)
|
rs769573395
|
0.00001
|
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
|
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)
|
rs730881622
|
0.00001
|
|
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
|
NM_032043.3(BRIP1):c.2493-11A>G
|
rs890923836
|
0.00001
|
|
NM_032043.3(BRIP1):c.2576-17T>C
|
rs1057517647
|
0.00001
|
|
NM_032043.3(BRIP1):c.2689A>G (p.Lys897Glu)
|
rs587781644
|
0.00001
|
|
NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr)
|
rs1060501781
|
0.00001
|
|
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met)
|
rs587780244
|
0.00001
|
|
NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)
|
rs863224801
|
0.00001
|
|
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)
|
rs587782679
|
0.00001
|
|
NM_032043.3(BRIP1):c.2905+3A>G
|
rs1555573247
|
0.00001
|
|
NM_032043.3(BRIP1):c.2906-1G>A
|
rs773639563
|
0.00001
|
|
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)
|
rs786203224
|
0.00001
|
|
NM_032043.3(BRIP1):c.2935A>G (p.Lys979Glu)
|
rs730881627
|
0.00001
|
|
NM_032043.3(BRIP1):c.293A>G (p.Asn98Ser)
|
rs781121675
|
0.00001
|
|
NM_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)
|
rs587781417
|
0.00001
|
|
NM_032043.3(BRIP1):c.299T>C (p.Met100Thr)
|
rs587782427
|
0.00001
|
|
NM_032043.3(BRIP1):c.3058A>G (p.Thr1020Ala)
|
rs1064793073
|
0.00001
|
|
NM_032043.3(BRIP1):c.305A>G (p.Gln102Arg)
|
rs1484234707
|
0.00001
|
|
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg)
|
rs763162379
|
0.00001
|
|
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)
|
rs1420431000
|
0.00001
|
|
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)
|
rs150813402
|
0.00001
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
0.00001
|
|
NM_032043.3(BRIP1):c.3260A>G (p.Asn1087Ser)
|
rs786202024
|
0.00001
|
|
NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr)
|
rs878855154
|
0.00001
|
|
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)
|
rs587782734
|
0.00001
|
|
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile)
|
rs778480809
|
0.00001
|
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
|
NM_032043.3(BRIP1):c.3475G>A (p.Ala1159Thr)
|
rs368610199
|
0.00001
|
|
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser)
|
rs889877039
|
0.00001
|
|
NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly)
|
rs776010326
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-7A>G
|
rs748143260
|
0.00001
|
|
NM_032043.3(BRIP1):c.446A>G (p.Asp149Gly)
|
rs770613242
|
0.00001
|
|
NM_032043.3(BRIP1):c.56A>G (p.Tyr19Cys)
|
rs876660880
|
0.00001
|
|
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)
|
rs748912293
|
0.00001
|
|
NM_032043.3(BRIP1):c.627+5G>A
|
rs745727200
|
0.00001
|
|
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr)
|
rs754242563
|
0.00001
|
|
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu)
|
rs45459799
|
0.00001
|
|
NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro)
|
rs771542690
|
0.00001
|
|
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val)
|
rs587781425
|
0.00001
|
|
NM_032043.3(BRIP1):c.868G>A (p.Gly290Ser)
|
rs145601931
|
0.00001
|
|
NM_032043.3(BRIP1):c.878A>G (p.Asn293Ser)
|
rs746599076
|
0.00001
|
|
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu)
|
rs1380876424
|
0.00001
|
|
NM_058216.3(RAD51C):c.1051G>A (p.Val351Ile)
|
rs1160208500
|
0.00001
|
|
NM_058216.3(RAD51C):c.1064G>A (p.Cys355Tyr)
|
rs1555605562
|
0.00001
|
|
NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp)
|
rs587782449
|
0.00001
|
|
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln)
|
rs577852020
|
0.00001
|
|
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln)
|
rs373170458
|
0.00001
|
|
NM_058216.3(RAD51C):c.1128A>G (p.Leu376=)
|
rs545024029
|
0.00001
|
|
NM_058216.3(RAD51C):c.115C>G (p.Leu39Val)
|
rs759149207
|
0.00001
|
|
NM_058216.3(RAD51C):c.121G>A (p.Val41Met)
|
rs879254131
|
0.00001
|
|
NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu)
|
rs730881927
|
0.00001
|
|
NM_058216.3(RAD51C):c.158C>G (p.Ser53Cys)
|
rs876659265
|
0.00001
|
|
NM_058216.3(RAD51C):c.161A>C (p.Lys54Thr)
|
rs587782296
|
0.00001
|
|
NM_058216.3(RAD51C):c.164C>T (p.Ala55Val)
|
rs730881928
|
0.00001
|
|
NM_058216.3(RAD51C):c.185A>G (p.Gln62Arg)
|
rs1308150896
|
0.00001
|
|
NM_058216.3(RAD51C):c.19C>A (p.Arg7Ser)
|
rs759759863
|
0.00001
|
|
NM_058216.3(RAD51C):c.214A>G (p.Lys72Glu)
|
rs775224480
|
0.00001
|
|
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile)
|
rs112832782
|
0.00001
|
|
NM_058216.3(RAD51C):c.253T>C (p.Cys85Arg)
|
rs1060502595
|
0.00001
|
|
NM_058216.3(RAD51C):c.340G>A (p.Gly114Arg)
|
rs786203690
|
0.00001
|
|
NM_058216.3(RAD51C):c.35G>A (p.Arg12Gln)
|
rs764394130
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+16C>G
|
rs376465837
|
0.00001
|
|
NM_058216.3(RAD51C):c.408G>A (p.Met136Ile)
|
rs587780836
|
0.00001
|
|
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)
|
rs267606999
|
0.00001
|
|
NM_058216.3(RAD51C):c.440G>A (p.Cys147Tyr)
|
rs764177838
|
0.00001
|
|
NM_058216.3(RAD51C):c.46A>G (p.Ser16Gly)
|
rs762060755
|
0.00001
|
|
NM_058216.3(RAD51C):c.52C>T (p.Pro18Ser)
|
rs547142453
|
0.00001
|
|
NM_058216.3(RAD51C):c.53C>T (p.Pro18Leu)
|
rs754498936
|
0.00001
|
|
NM_058216.3(RAD51C):c.547A>G (p.Ile183Val)
|
rs753475114
|
0.00001
|
|
NM_058216.3(RAD51C):c.548T>C (p.Ile183Thr)
|
rs756727559
|
0.00001
|
|
NM_058216.3(RAD51C):c.550G>A (p.Ala184Thr)
|
rs1060502604
|
0.00001
|
|
NM_058216.3(RAD51C):c.563A>T (p.Lys188Met)
|
rs587781680
|
0.00001
|
|
NM_058216.3(RAD51C):c.571+4A>G
|
rs587780257
|
0.00001
|
|
NM_058216.3(RAD51C):c.601C>G (p.Leu201Val)
|
rs531838785
|
0.00001
|
|
NM_058216.3(RAD51C):c.607A>G (p.Asn203Asp)
|
rs538884532
|
0.00001
|
|
NM_058216.3(RAD51C):c.620A>G (p.His207Arg)
|
rs587781921
|
0.00001
|
|
NM_058216.3(RAD51C):c.621T>A (p.His207Gln)
|
rs786201848
|
0.00001
|
|
NM_058216.3(RAD51C):c.641G>A (p.Arg214His)
|
rs760911964
|
0.00001
|
|
NM_058216.3(RAD51C):c.644A>G (p.Asp215Gly)
|
rs1483938000
|
0.00001
|
|
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser)
|
rs201529791
|
0.00001
|
|
NM_058216.3(RAD51C):c.680C>T (p.Pro227Leu)
|
rs1374461662
|
0.00001
|
|
NM_058216.3(RAD51C):c.687C>G (p.Phe229Leu)
|
rs780177888
|
0.00001
|
|
NM_058216.3(RAD51C):c.704A>C (p.Lys235Thr)
|
rs748043225
|
0.00001
|
|
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln)
|
rs370393672
|
0.00001
|
|
NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu)
|
rs863224806
|
0.00001
|
|
NM_058216.3(RAD51C):c.740C>T (p.Pro247Leu)
|
rs2048495457
|
0.00001
|
|
NM_058216.3(RAD51C):c.748C>T (p.His250Tyr)
|
rs531540031
|
0.00001
|
|
NM_058216.3(RAD51C):c.758A>G (p.Asp253Gly)
|
rs1060502592
|
0.00001
|
|
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln)
|
rs730881926
|
0.00001
|
|
NM_058216.3(RAD51C):c.862A>G (p.Thr288Ala)
|
rs587781574
|
0.00001
|
|
NM_058216.3(RAD51C):c.88G>T (p.Ala30Ser)
|
rs1331134740
|
0.00001
|
|
NM_058216.3(RAD51C):c.89C>T (p.Ala30Val)
|
rs1000113630
|
0.00001
|
|
NM_058216.3(RAD51C):c.904+5G>T
|
rs587782702
|
0.00001
|
|
NM_058216.3(RAD51C):c.931A>G (p.Ile311Val)
|
rs876660547
|
0.00001
|
|
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp)
|
rs730881932
|
0.00001
|
|
NM_058216.3(RAD51C):c.966-12T>C
|
rs1057522948
|
0.00001
|
|
NM_170707.4(LMNA):c.1699-8C>G
|
rs727503137
|
0.00001
|
|
NM_174936.4(PCSK9):c.-8T>C
|
rs886039837
|
0.00001
|
|
NM_174936.4(PCSK9):c.1426C>T (p.Arg476Cys)
|
rs761767572
|
0.00001
|
|
NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys)
|
rs1278890129
|
0.00001
|
|
NM_174936.4(PCSK9):c.1503G>A (p.Glu501=)
|
rs986151799
|
0.00001
|
|
NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile)
|
rs760981278
|
0.00001
|
|
NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp)
|
rs533555352
|
0.00001
|
|
NM_174936.4(PCSK9):c.208-14T>G
|
rs750836360
|
0.00001
|
|
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
|
rs778738291
|
0.00001
|
|
NM_174936.4(PCSK9):c.523G>A (p.Asp175Asn)
|
rs150898485
|
0.00001
|
|
NM_174936.4(PCSK9):c.658G>A (p.Ala220Thr)
|
rs768795323
|
0.00001
|
|
NC_000011.10:g.47332110del
|
rs727503166
|
|
|
NC_000011.10:g.47332282_47332306del
|
rs36212066
|
|
|
NC_000011.10:g.47347434del
|
rs1555122928
|
|
|
NC_000011.10:g.47347670del
|
rs727503212
|
|
|
NC_000013.11:g.48303692_48303714del
|
rs36230211
|
|
|
NC_000019.10:g.11089341A>T
|
rs879254361
|
|
|
NC_000019.10:g.11089452G>A
|
rs944580031
|
|
|
NM_000038.6(APC):c.1082A>G (p.His361Arg)
|
rs1554080006
|
|
|
NM_000038.6(APC):c.1096G>A (p.Asp366Asn)
|
rs199562537
|
|
|
NM_000038.6(APC):c.121G>A (p.Ala41Thr)
|
rs1554067157
|
|
|
NM_000038.6(APC):c.1287A>C (p.Pro429=)
|
rs2149783796
|
|
|
NM_000038.6(APC):c.1333C>G (p.Gln445Glu)
|
rs876658802
|
|
|
NM_000038.6(APC):c.1391A>G (p.His464Arg)
|
rs730881236
|
|
|
NM_000038.6(APC):c.1440A>C (p.Gln480His)
|
rs863224537
|
|
|
NM_000038.6(APC):c.15A>G (p.Ser5=)
|
rs1554067106
|
|
|
NM_000038.6(APC):c.1626+3A>G
|
rs1060503372
|
|
|
NM_000038.6(APC):c.1743+1G>C
|
rs761458613
|
|
|
NM_000038.6(APC):c.181G>A (p.Ala61Thr)
|
rs786201989
|
|
|
NM_000038.6(APC):c.1958+1_1958+2dup
|
rs1561569606
|
|
|
NM_000038.6(APC):c.1979A>G (p.Asn660Ser)
|
rs1174866478
|
|
|
NM_000038.6(APC):c.2031C>G (p.Val677=)
|
rs769363082
|
|
|
NM_000038.6(APC):c.2114G>A (p.Ser705Asn)
|
rs752874220
|
|
|
NM_000038.6(APC):c.2360G>A (p.Ser787Asn)
|
rs910898245
|
|
|
NM_000038.6(APC):c.2419GAT[1] (p.Asp808del)
|
rs587781469
|
|
|
NM_000038.6(APC):c.2560A>G (p.Arg854Gly)
|
rs1468020473
|
|
|
NM_000038.6(APC):c.2587_2589del (p.Tyr863del)
|
rs1554084281
|
|
|
NM_000038.6(APC):c.259C>T (p.Leu87=)
|
rs569640184
|
|
|
NM_000038.6(APC):c.2630G>C (p.Gly877Ala)
|
rs558732083
|
|
|
NM_000038.6(APC):c.2644A>G (p.Thr882Ala)
|
rs761780458
|
|
|
NM_000038.6(APC):c.2791C>T (p.His931Tyr)
|
rs1169039793
|
|
|
NM_000038.6(APC):c.2834_2835delinsTT (p.Arg945Ile)
|
rs786204162
|
|
|
NM_000038.6(APC):c.295C>A (p.Arg99=)
|
rs139196838
|
|
|
NM_000038.6(APC):c.3007G>A (p.Asp1003Asn)
|
rs564314108
|
|
|
NM_000038.6(APC):c.3026A>G (p.His1009Arg)
|
rs756131416
|
|
|
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg)
|
rs876660265
|
|
|
NM_000038.6(APC):c.3251A>T (p.Asp1084Val)
|
rs201904856
|
|
|
NM_000038.6(APC):c.3377G>A (p.Ser1126Asn)
|
rs767339739
|
|
|
NM_000038.6(APC):c.3425A>G (p.Asn1142Ser)
|
rs138410865
|
|
|
NM_000038.6(APC):c.3445GAA[2] (p.Glu1151del)
|
rs761327787
|
|
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
|
NM_000038.6(APC):c.3629A>T (p.His1210Leu)
|
rs756346998
|
|
|
NM_000038.6(APC):c.3632T>C (p.Met1211Thr)
|
rs575268622
|
|
|
NM_000038.6(APC):c.3691C>G (p.Leu1231Val)
|
rs573020080
|
|
|
NM_000038.6(APC):c.3932T>G (p.Ile1311Ser)
|
rs876659190
|
|
|
NM_000038.6(APC):c.4018_4020dup (p.Ser1341dup)
|
rs864622376
|
|
|
NM_000038.6(APC):c.4088A>G (p.Lys1363Arg)
|
rs373607243
|
|
|
NM_000038.6(APC):c.4088A>T (p.Lys1363Ile)
|
rs373607243
|
|
|
NM_000038.6(APC):c.420G>C (p.Glu140Asp)
|
rs202161017
|
|
|
NM_000038.6(APC):c.421A>C (p.Arg141=)
|
rs1561465195
|
|
|
NM_000038.6(APC):c.423-3T>A
|
rs587782293
|
|
|
NM_000038.6(APC):c.423-3_423-2del
|
rs863225354
|
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
|
NM_000038.6(APC):c.4332A>T (p.Gln1444His)
|
rs748342378
|
|
|
NM_000038.6(APC):c.4337C>T (p.Ala1446Val)
|
rs1765655722
|
|
|
NM_000038.6(APC):c.4441G>A (p.Val1481Ile)
|
rs587782349
|
|
|
NM_000038.6(APC):c.4552A>G (p.Lys1518Glu)
|
rs1554085958
|
|
|
NM_000038.6(APC):c.4627A>G (p.Lys1543Glu)
|
rs876658995
|
|
|
NM_000038.6(APC):c.4670T>C (p.Ile1557Thr)
|
rs769121879
|
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
|
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys)
|
rs72541813
|
|
|
NM_000038.6(APC):c.4783G>T (p.Ala1595Ser)
|
rs749782426
|
|
|
NM_000038.6(APC):c.4921G>A (p.Val1641Met)
|
rs755126540
|
|
|
NM_000038.6(APC):c.5078A>G (p.Glu1693Gly)
|
rs533667536
|
|
|
NM_000038.6(APC):c.5266TCT[2] (p.Ser1758del)
|
rs780061589
|
|
|
NM_000038.6(APC):c.5282A>G (p.Asn1761Ser)
|
rs752038930
|
|
|
NM_000038.6(APC):c.532-3T>C
|
rs2149638939
|
|
|
NM_000038.6(APC):c.5372A>G (p.Lys1791Arg)
|
rs775740112
|
|
|
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del)
|
rs587782002
|
|
|
NM_000038.6(APC):c.5465T>G (p.Val1822Gly)
|
rs459552
|
|
|
NM_000038.6(APC):c.5527C>A (p.Pro1843Thr)
|
rs1461006300
|
|
|
NM_000038.6(APC):c.5723A>G (p.Asn1908Ser)
|
rs1064795748
|
|
|
NM_000038.6(APC):c.5740G>A (p.Ala1914Thr)
|
rs777899289
|
|
|
NM_000038.6(APC):c.5776A>G (p.Ile1926Val)
|
rs1766040137
|
|
|
NM_000038.6(APC):c.5840C>G (p.Thr1947Ser)
|
rs575724078
|
|
|
NM_000038.6(APC):c.5879_5880delinsTA (p.Pro1960Leu)
|
rs587779801
|
|
|
NM_000038.6(APC):c.6213A>G (p.Ile2071Met)
|
rs876660358
|
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
|
NM_000038.6(APC):c.6473C>A (p.Pro2158His)
|
rs587779804
|
|
|
NM_000038.6(APC):c.6493C>A (p.Pro2165Thr)
|
rs775501375
|
|
|
NM_000038.6(APC):c.652A>G (p.Ile218Val)
|
rs781561221
|
|
|
NM_000038.6(APC):c.655G>A (p.Ala219Thr)
|
rs1554074731
|
|
|
NM_000038.6(APC):c.6676C>T (p.Arg2226Ter)
|
rs1064794626
|
|
|
NM_000038.6(APC):c.6785G>A (p.Ser2262Asn)
|
rs878853465
|
|
|
NM_000038.6(APC):c.6851C>T (p.Pro2284Leu)
|
rs200468360
|
|
|
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg)
|
rs544549596
|
|
|
NM_000038.6(APC):c.6963A>G (p.Ile2321Met)
|
rs1561611578
|
|
|
NM_000038.6(APC):c.7075T>G (p.Ser2359Ala)
|
rs532244792
|
|
|
NM_000038.6(APC):c.7148G>T (p.Gly2383Val)
|
rs754320004
|
|
|
NM_000038.6(APC):c.715G>C (p.Ala239Pro)
|
rs777760565
|
|
|
NM_000038.6(APC):c.719C>G (p.Thr240Arg)
|
rs751648064
|
|
|
NM_000038.6(APC):c.7219G>A (p.Gly2407Ser)
|
rs1561613753
|
|
|
NM_000038.6(APC):c.7266T>A (p.Thr2422=)
|
rs554878484
|
|
|
NM_000038.6(APC):c.730-3C>T
|
rs786203125
|
|
|
NM_000038.6(APC):c.730-5A>G
|
rs1561514828
|
|
|
NM_000038.6(APC):c.7489dup (p.Ser2497fs)
|
rs1409414498
|
|
|
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)
|
rs79630786
|
|
|
NM_000038.6(APC):c.7543A>G (p.Ile2515Val)
|
rs554356011
|
|
|
NM_000038.6(APC):c.768T>G (p.Asp256Glu)
|
rs764268036
|
|
|
NM_000038.6(APC):c.7738T>G (p.Ser2580Ala)
|
rs1580686014
|
|
|
NM_000038.6(APC):c.777G>T (p.Arg259=)
|
rs147704593
|
|
|
NM_000038.6(APC):c.7803_7807del (p.Ser2601fs)
|
rs1580686729
|
|
|
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile)
|
rs587778037
|
|
|
NM_000038.6(APC):c.7849_7853del (p.Lys2616_Glu2617insTer)
|
rs1309569258
|
|
|
NM_000038.6(APC):c.7904del (p.Thr2635fs)
|
rs2149995957
|
|
|
NM_000038.6(APC):c.7964_7965del (p.Glu2655fs)
|
rs2149997043
|
|
|
NM_000038.6(APC):c.800G>A (p.Gly267Glu)
|
rs747759906
|
|
|
NM_000038.6(APC):c.8146G>C (p.Val2716Leu)
|
rs587778044
|
|
|
NM_000038.6(APC):c.8306A>G (p.Lys2769Arg)
|
rs878853475
|
|
|
NM_000038.6(APC):c.8411A>G (p.Gln2804Arg)
|
rs1475247315
|
|
|
NM_000038.6(APC):c.841A>G (p.Thr281Ala)
|
rs769727966
|
|
|
NM_000038.6(APC):c.8425G>A (p.Val2809Met)
|
rs886059801
|
|
|
NM_000038.6(APC):c.8446C>T (p.Arg2816Ter)
|
rs781229935
|
|
|
NM_000038.6(APC):c.8488dup (p.Ser2830fs)
|
rs2533871675
|
|
|
NM_000051.3(ATM):c.2839-579_2839-576del
|
rs587776552
|
|
|
NM_000051.4(ATM):c.-30-1G>T
|
rs869312754
|
|
|
NM_000051.4(ATM):c.1007T>G (p.Phe336Cys)
|
rs1018587967
|
|
|
NM_000051.4(ATM):c.100A>G (p.Ile34Val)
|
rs1555054094
|
|
|
NM_000051.4(ATM):c.1020C>A (p.Ala340=)
|
rs546927781
|
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
|
NM_000051.4(ATM):c.1060C>T (p.His354Tyr)
|
rs2079892237
|
|
|
NM_000051.4(ATM):c.1065+5A>T
|
rs1204741025
|
|
|
NM_000051.4(ATM):c.1076A>G (p.Glu359Gly)
|
rs1555069537
|
|
|
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn)
|
rs1565378803
|
|
|
NM_000051.4(ATM):c.1088C>T (p.Ser363Phe)
|
rs1555069560
|
|
|
NM_000051.4(ATM):c.1111A>G (p.Thr371Ala)
|
rs1565378985
|
|
|
NM_000051.4(ATM):c.1130C>G (p.Ser377Cys)
|
rs1555069665
|
|
|
NM_000051.4(ATM):c.1152C>G (p.Cys384Trp)
|
rs777755997
|
|
|
NM_000051.4(ATM):c.1163A>G (p.Lys388Arg)
|
rs1060501618
|
|
|
NM_000051.4(ATM):c.118A>G (p.Ile40Val)
|
rs1064796002
|
|
|
NM_000051.4(ATM):c.11T>C (p.Val4Ala)
|
rs1555053873
|
|
|
NM_000051.4(ATM):c.1208C>T (p.Ser403Leu)
|
rs747563556
|
|
|
NM_000051.4(ATM):c.1228G>A (p.Val410Met)
|
rs863224555
|
|
|
NM_000051.4(ATM):c.1236-3_1236-2insC
|
rs730881281
|
|
|
NM_000051.4(ATM):c.1236-3dup
|
rs34325032
|
|
|
NM_000051.4(ATM):c.1273G>A (p.Ala425Thr)
|
rs769214234
|
|
|
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser)
|
rs769214234
|
|
|
NM_000051.4(ATM):c.1380G>C (p.Thr460=)
|
rs145333518
|
|
|
NM_000051.4(ATM):c.1411A>C (p.Asn471His)
|
rs2080104786
|
|
|
NM_000051.4(ATM):c.1427A>G (p.Gln476Arg)
|
rs1397399631
|
|
|
NM_000051.4(ATM):c.1483A>G (p.Ile495Val)
|
rs786201969
|
|
|
NM_000051.4(ATM):c.1492G>C (p.Glu498Gln)
|
rs1555071060
|
|
|
NM_000051.4(ATM):c.1526G>A (p.Gly509Glu)
|
rs1591524556
|
|
|
NM_000051.4(ATM):c.1553A>T (p.Glu518Val)
|
rs2080117672
|
|
|
NM_000051.4(ATM):c.1555G>A (p.Val519Ile)
|
rs758056561
|
|
|
NM_000051.4(ATM):c.1582A>G (p.Thr528Ala)
|
rs876658647
|
|
|
NM_000051.4(ATM):c.1607+20T>C
|
rs1555071308
|
|
|
NM_000051.4(ATM):c.1669A>G (p.Met557Val)
|
rs1427517965
|
|
|
NM_000051.4(ATM):c.1677A>G (p.Ile559Met)
|
rs1190611996
|
|
|
NM_000051.4(ATM):c.1689G>A (p.Met563Ile)
|
rs786202469
|
|
|
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys)
|
rs200381392
|
|
|
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)
|
rs876660661
|
|
|
NM_000051.4(ATM):c.1748A>C (p.Tyr583Ser)
|
rs587780614
|
|
|
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn)
|
rs776911505
|
|
|
NM_000051.4(ATM):c.1800C>T (p.His600=)
|
rs750715942
|
|
|
NM_000051.4(ATM):c.1819G>A (p.Val607Ile)
|
rs878853489
|
|
|
NM_000051.4(ATM):c.1898+1G>T
|
rs758325274
|
|
|
NM_000051.4(ATM):c.1906C>T (p.His636Tyr)
|
rs786203654
|
|
|
NM_000051.4(ATM):c.1910A>G (p.Gln637Arg)
|
rs1565389611
|
|
|
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del)
|
rs876659575
|
|
|
NM_000051.4(ATM):c.1923A>G (p.Glu641=)
|
rs2135366297
|
|
|
NM_000051.4(ATM):c.193C>G (p.Gln65Glu)
|
rs775248597
|
|
|
NM_000051.4(ATM):c.1954T>C (p.Phe652Leu)
|
rs1565389902
|
|
|
NM_000051.4(ATM):c.1976A>G (p.Lys659Arg)
|
rs1565390043
|
|
|
NM_000051.4(ATM):c.1994T>C (p.Ile665Thr)
|
rs1064793789
|
|
|
NM_000051.4(ATM):c.2011A>G (p.Ile671Val)
|
rs730881344
|
|
|
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr)
|
rs1485409783
|
|
|
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)
|
rs786202743
|
|
|
NM_000051.4(ATM):c.2125-3A>C
|
rs1565394396
|
|
|
NM_000051.4(ATM):c.2125-4T>C
|
rs1064795623
|
|
|
NM_000051.4(ATM):c.2125-7_2125-3del
|
rs1060504272
|
|
|
NM_000051.4(ATM):c.2158C>A (p.Arg720Ser)
|
rs565622131
|
|
|
NM_000051.4(ATM):c.2194A>G (p.Met732Val)
|
rs1415360560
|
|
|
NM_000051.4(ATM):c.2250+13A>G
|
rs1290519111
|
|
|
NM_000051.4(ATM):c.2251-4A>G
|
rs786202935
|
|
|
NM_000051.4(ATM):c.227G>A (p.Arg76Lys)
|
rs1565346853
|
|
|
NM_000051.4(ATM):c.2281A>G (p.Thr761Ala)
|
rs2235011
|
|
|
NM_000051.4(ATM):c.2282C>G (p.Thr761Ser)
|
rs768430443
|
|
|
NM_000051.4(ATM):c.2321G>T (p.Gly774Val)
|
rs1555075727
|
|
|
NM_000051.4(ATM):c.2364C>G (p.Ser788Arg)
|
rs2135408164
|
|
|
NM_000051.4(ATM):c.2376+3A>G
|
rs758083563
|
|
|
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr)
|
rs201793499
|
|
|
NM_000051.4(ATM):c.2466+1G>A
|
rs914092098
|
|
|
NM_000051.4(ATM):c.2466+5G>C
|
rs1064795969
|
|
|
NM_000051.4(ATM):c.2489T>C (p.Phe830Ser)
|
rs773582901
|
|
|
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu)
|
rs199875915
|
|
|
NM_000051.4(ATM):c.2516A>C (p.Glu839Ala)
|
rs1591587459
|
|
|
NM_000051.4(ATM):c.251C>T (p.Ala84Val)
|
rs587781937
|
|
|
NM_000051.4(ATM):c.2522A>G (p.Asp841Gly)
|
rs587781812
|
|
|
NM_000051.4(ATM):c.2525C>G (p.Thr842Ser)
|
rs1555082164
|
|
|
NM_000051.4(ATM):c.2531G>C (p.Gly844Ala)
|
rs587781808
|
|
|
NM_000051.4(ATM):c.2539A>T (p.Met847Leu)
|
rs587779823
|
|
|
NM_000051.4(ATM):c.2545G>T (p.Val849Leu)
|
rs1591587875
|
|
|
NM_000051.4(ATM):c.2553T>G (p.Asp851Glu)
|
rs1064793513
|
|
|
NM_000051.4(ATM):c.2563A>T (p.Met855Leu)
|
rs749844591
|
|
|
NM_000051.4(ATM):c.2567A>G (p.Asn856Ser)
|
rs1555082253
|
|
|
NM_000051.4(ATM):c.2569C>G (p.Leu857Val)
|
rs876659486
|
|
|
NM_000051.4(ATM):c.2581T>C (p.Tyr861His)
|
rs1565416692
|
|
|
NM_000051.4(ATM):c.2590A>G (p.Ser864Gly)
|
rs764842086
|
|
|
NM_000051.4(ATM):c.2606C>T (p.Ala869Val)
|
rs145513717
|
|
|
NM_000051.4(ATM):c.2638+2T>C
|
rs587779826
|
|
|
NM_000051.4(ATM):c.2639-22_2639-20del
|
rs1064795554
|
|
|
NM_000051.4(ATM):c.2744C>G (p.Thr915Ser)
|
rs876660912
|
|
|
NM_000051.4(ATM):c.2791A>G (p.Ile931Val)
|
rs1308253602
|
|
|
NM_000051.4(ATM):c.2804C>A (p.Thr935Lys)
|
rs3218708
|
|
|
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)
|
rs3218708
|
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
|
NM_000051.4(ATM):c.2811A>C (p.Glu937Asp)
|
rs1060501705
|
|
|
NM_000051.4(ATM):c.2812C>G (p.Pro938Ala)
|
rs1415567368
|
|
|
NM_000051.4(ATM):c.2839-7A>G
|
rs1445472389
|
|
|
NM_000051.4(ATM):c.2845A>G (p.Met949Val)
|
rs1348704826
|
|
|
NM_000051.4(ATM):c.2847G>A (p.Met949Ile)
|
rs1565424213
|
|
|
NM_000051.4(ATM):c.2921+1G>C
|
rs587781558
|
|
|
NM_000051.4(ATM):c.2921+1G>T
|
rs587781558
|
|
|
NM_000051.4(ATM):c.2922-4A>G
|
rs1555084924
|
|
|
NM_000051.4(ATM):c.2922-50_2940del
|
rs1555084832
|
|
|
NM_000051.4(ATM):c.2922-8del
|
rs373881770
|
|
|
NM_000051.4(ATM):c.2925T>C (p.Asn975=)
|
rs765848319
|
|
|
NM_000051.4(ATM):c.2978A>G (p.His993Arg)
|
rs878853498
|
|
|
NM_000051.4(ATM):c.2987A>G (p.His996Arg)
|
rs876660034
|
|
|
NM_000051.4(ATM):c.2989G>A (p.Val997Ile)
|
rs1487902875
|
|
|
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser)
|
rs730881355
|
|
|
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val)
|
rs758708495
|
|
|
NM_000051.4(ATM):c.3153+5G>C
|
rs1591608756
|
|
|
NM_000051.4(ATM):c.3178A>G (p.Ile1060Val)
|
rs2081660483
|
|
|
NM_000051.4(ATM):c.3196A>C (p.Lys1066Gln)
|
rs1555086041
|
|
|
NM_000051.4(ATM):c.3197A>G (p.Lys1066Arg)
|
rs926564671
|
|
|
NM_000051.4(ATM):c.3285-5T>C
|
rs876659715
|
|
|
NM_000051.4(ATM):c.331+1G>A
|
rs1555055356
|
|
|
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg)
|
rs777705500
|
|
|
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)
|
rs587781971
|
|
|
NM_000051.4(ATM):c.3382C>G (p.Gln1128Glu)
|
rs876659825
|
|
|
NM_000051.4(ATM):c.3400A>G (p.Met1134Val)
|
rs1591632583
|
|
|
NM_000051.4(ATM):c.3403-15delinsAA
|
rs1555091094
|
|
|
NM_000051.4(ATM):c.3403-3A>C
|
rs374866638
|
|
|
NM_000051.4(ATM):c.3403-8_3403-4del
|
rs1555091114
|
|
|
NM_000051.4(ATM):c.3403T>G (p.Ser1135Ala)
|
rs1565441341
|
|
|
NM_000051.4(ATM):c.3413C>G (p.Ala1138Gly)
|
rs1565441399
|
|
|
NM_000051.4(ATM):c.3439A>G (p.Ile1147Val)
|
rs769853739
|
|
|
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)
|
rs876658899
|
|
|
NM_000051.4(ATM):c.3529T>C (p.Cys1177Arg)
|
rs2135669298
|
|
|
NM_000051.4(ATM):c.3558A>C (p.Glu1186Asp)
|
rs12786957
|
|
|
NM_000051.4(ATM):c.3577-12del
|
rs730881288
|
|
|
NM_000051.4(ATM):c.3577-3C>A
|
rs876659700
|
|
|
NM_000051.4(ATM):c.3577-5T>C
|
rs1555092229
|
|
|
NM_000051.4(ATM):c.3624C>T (p.Asp1208=)
|
rs2082298022
|
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
|
NM_000051.4(ATM):c.3744T>C (p.Tyr1248=)
|
rs1555092589
|
|
|
NM_000051.4(ATM):c.3746+5G>A
|
rs876658419
|
|
|
NM_000051.4(ATM):c.3747-1G>C
|
rs730881364
|
|
|
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu)
|
rs534864280
|
|
|
NM_000051.4(ATM):c.3842G>A (p.Ser1281Asn)
|
rs1064797161
|
|
|
NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg)
|
rs863224565
|
|
|
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)
|
rs864622654
|
|
|
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)
|
rs568451087
|
|
|
NM_000051.4(ATM):c.3961A>G (p.Met1321Val)
|
rs730881366
|
|
|
NM_000051.4(ATM):c.3993+4T>C
|
rs2082390512
|
|
|
NM_000051.4(ATM):c.3994-160T>C
|
rs2082548304
|
|
|
NM_000051.4(ATM):c.4081C>G (p.Gln1361Glu)
|
rs121434222
|
|
|
NM_000051.4(ATM):c.4092C>A (p.Asp1364Glu)
|
rs876660956
|
|
|
NM_000051.4(ATM):c.4110-1G>A
|
rs1060501692
|
|
|
NM_000051.4(ATM):c.4110-1G>C
|
rs1060501692
|
|
|
NM_000051.4(ATM):c.4110-9C>G
|
rs730881367
|
|
|
NM_000051.4(ATM):c.4150C>A (p.His1384Asn)
|
rs876660576
|
|
|
NM_000051.4(ATM):c.4184A>G (p.Asn1395Ser)
|
rs375396787
|
|
|
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser)
|
rs786203761
|
|
|
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro)
|
rs886038217
|
|
|
NM_000051.4(ATM):c.4451T>C (p.Met1484Thr)
|
rs786203785
|
|
|
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu)
|
rs786203352
|
|
|
NM_000051.4(ATM):c.4576C>T (p.Pro1526Ser)
|
rs748898098
|
|
|
NM_000051.4(ATM):c.4618G>C (p.Asp1540His)
|
rs778622948
|
|
|
NM_000051.4(ATM):c.4653T>A (p.Asp1551Glu)
|
rs2082915572
|
|
|
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)
|
rs869312755
|
|
|
NM_000051.4(ATM):c.4776+1G>T
|
rs771117943
|
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
|
NM_000051.4(ATM):c.4776+2_4776+13del
|
rs762838462
|
|
|
NM_000051.4(ATM):c.4777-10_4777-7delinsCTCTTTTAGTTACATTTACATTTTAGTTAA
|
rs1555101600
|
|
|
NM_000051.4(ATM):c.4801A>G (p.Ser1601Gly)
|
rs876660520
|
|
|
NM_000051.4(ATM):c.4885G>C (p.Val1629Leu)
|
rs876660748
|
|
|
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn)
|
rs1555101921
|
|
|
NM_000051.4(ATM):c.4890C>T (p.Asp1630=)
|
rs1591685165
|
|
|
NM_000051.4(ATM):c.4909+1G>T
|
rs756987454
|
|
|
NM_000051.4(ATM):c.4932G>C (p.Met1644Ile)
|
rs730881371
|
|
|
NM_000051.4(ATM):c.495_496+16del
|
rs1555059522
|
|
|
NM_000051.4(ATM):c.496+4T>G
|
rs587781375
|
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
|
NM_000051.4(ATM):c.497-2661A>G
|
rs1591491477
|
|
|
NM_000051.4(ATM):c.497-3A>G
|
rs1046559213
|
|
|
NM_000051.4(ATM):c.497-4T>A
|
rs876659621
|
|
|
NM_000051.4(ATM):c.498A>T (p.Glu166Asp)
|
rs587779842
|
|
|
NM_000051.4(ATM):c.5011G>A (p.Val1671Ile)
|
rs1057523385
|
|
|
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)
|
rs766053182
|
|
|
NM_000051.4(ATM):c.5113G>A (p.Asp1705Asn)
|
rs1565474013
|
|
|
NM_000051.4(ATM):c.5132C>T (p.Thr1711Ile)
|
rs1291016764
|
|
|
NM_000051.4(ATM):c.516C>T (p.Phe172=)
|
rs1591499730
|
|
|
NM_000051.4(ATM):c.5177+3G>A
|
rs774216164
|
|
|
NM_000051.4(ATM):c.5177+5G>A
|
rs759373136
|
|
|
NM_000051.4(ATM):c.5178-4dup
|
rs747750958
|
|
|
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu)
|
rs373789346
|
|
|
NM_000051.4(ATM):c.519G>T (p.Arg173Ser)
|
rs587781391
|
|
|
NM_000051.4(ATM):c.5284G>A (p.Ala1762Thr)
|
rs2083444037
|
|
|
NM_000051.4(ATM):c.530A>G (p.Lys177Arg)
|
rs2135222838
|
|
|
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile)
|
rs1064794192
|
|
|
NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser)
|
rs1555106375
|
|
|
NM_000051.4(ATM):c.5374A>G (p.Ile1792Val)
|
rs1555106405
|
|
|
NM_000051.4(ATM):c.538C>A (p.Gln180Lys)
|
rs730881333
|
|
|
NM_000051.4(ATM):c.5399A>G (p.Glu1800Gly)
|
rs2083502112
|
|
|
NM_000051.4(ATM):c.5473C>A (p.Gln1825Lys)
|
rs1555106553
|
|
|
NM_000051.4(ATM):c.5496+2_5496+5del
|
rs1565479572
|
|
|
NM_000051.4(ATM):c.5497-2A>G
|
rs786203796
|
|
|
NM_000051.4(ATM):c.5566G>C (p.Glu1856Gln)
|
rs1465041573
|
|
|
NM_000051.4(ATM):c.5579A>G (p.Asn1860Ser)
|
rs2083597981
|
|
|
NM_000051.4(ATM):c.5626C>T (p.His1876Tyr)
|
rs1060501567
|
|
|
NM_000051.4(ATM):c.5628C>A (p.His1876Gln)
|
rs1237700879
|
|
|
NM_000051.4(ATM):c.5650A>G (p.Thr1884Ala)
|
rs1555107562
|
|
|
NM_000051.4(ATM):c.5675-7_5675-4del
|
rs1189695629
|
|
|
NM_000051.4(ATM):c.5683C>A (p.His1895Asn)
|
rs766901049
|
|
|
NM_000051.4(ATM):c.56G>A (p.Arg19Lys)
|
rs1064793029
|
|
|
NM_000051.4(ATM):c.5762+1G>T
|
rs869312756
|
|
|
NM_000051.4(ATM):c.5779A>G (p.Ile1927Val)
|
rs753218533
|
|
|
NM_000051.4(ATM):c.577G>A (p.Ala193Thr)
|
rs876659832
|
|
|
NM_000051.4(ATM):c.578C>T (p.Ala193Val)
|
rs1064793928
|
|
|
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe)
|
rs1565489956
|
|
|
NM_000051.4(ATM):c.5873C>T (p.Ala1958Val)
|
rs2136017305
|
|
|
NM_000051.4(ATM):c.5897G>A (p.Ser1966Asn)
|
rs1555110520
|
|
|
NM_000051.4(ATM):c.5899A>G (p.Met1967Val)
|
rs1060501541
|
|
|
NM_000051.4(ATM):c.5901G>A (p.Met1967Ile)
|
rs2136018731
|
|
|
NM_000051.4(ATM):c.5917A>C (p.Arg1973=)
|
rs786202089
|
|
|
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)
|
rs1555110591
|
|
|
NM_000051.4(ATM):c.5926G>A (p.Ala1976Thr)
|
rs2084241683
|
|
|
NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser)
|
rs1060501603
|
|
|
NM_000051.4(ATM):c.5956A>G (p.Ile1986Val)
|
rs876660935
|
|
|
NM_000051.4(ATM):c.5973A>C (p.Glu1991Asp)
|
rs587782274
|
|
|
NM_000051.4(ATM):c.5980A>T (p.Lys1994Ter)
|
rs1565493693
|
|
|
NM_000051.4(ATM):c.6006+3A>C
|
rs2547054583
|
|
|
NM_000051.4(ATM):c.6088A>C (p.Ile2030Leu)
|
rs145847315
|
|
|
NM_000051.4(ATM):c.6095+5del
|
rs1555113628
|
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
|
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)
|
rs864622251
|
|
|
NM_000051.4(ATM):c.6198+1G>A
|
rs778031266
|
|
|
NM_000051.4(ATM):c.6198+3A>G
|
rs786202092
|
|
|
NM_000051.4(ATM):c.6198G>C (p.Gln2066His)
|
rs786203341
|
|
|
NM_000051.4(ATM):c.61A>G (p.Thr21Ala)
|
rs1565344141
|
|
|
NM_000051.4(ATM):c.6224A>G (p.His2075Arg)
|
rs1555114602
|
|
|
NM_000051.4(ATM):c.6287A>G (p.Glu2096Gly)
|
rs1565503246
|
|
|
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)
|
rs1555114737
|
|
|
NM_000051.4(ATM):c.6338C>T (p.Thr2113Ile)
|
rs573290117
|
|
|
NM_000051.4(ATM):c.6343G>C (p.Val2115Leu)
|
rs587780634
|
|
|
NM_000051.4(ATM):c.6389A>G (p.Asn2130Ser)
|
rs2136220181
|
|
|
NM_000051.4(ATM):c.640T>C (p.Ser214Pro)
|
rs747053710
|
|
|
NM_000051.4(ATM):c.6453-5A>G
|
rs755177899
|
|
|
NM_000051.4(ATM):c.6572+3A>G
|
rs778574672
|
|
|
NM_000051.4(ATM):c.6573-11G>A
|
rs375599653
|
|
|
NM_000051.4(ATM):c.6577G>A (p.Val2193Ile)
|
rs754555043
|
|
|
NM_000051.4(ATM):c.6583C>T (p.His2195Tyr)
|
rs780946471
|
|
|
NM_000051.4(ATM):c.6718G>A (p.Asp2240Asn)
|
rs587782478
|
|
|
NM_000051.4(ATM):c.6718G>C (p.Asp2240His)
|
rs587782478
|
|
|
NM_000051.4(ATM):c.6739A>C (p.Ile2247Leu)
|
rs587781521
|
|
|
NM_000051.4(ATM):c.6841T>C (p.Tyr2281His)
|
rs1291249685
|
|
|
NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser)
|
rs863224579
|
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
|
NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala)
|
rs1555119842
|
|
|
NM_000051.4(ATM):c.6891A>G (p.Gln2297=)
|
rs773545588
|
|
|
NM_000051.4(ATM):c.692A>T (p.His231Leu)
|
rs587782229
|
|
|
NM_000051.4(ATM):c.6968G>A (p.Cys2323Tyr)
|
rs876660924
|
|
|
NM_000051.4(ATM):c.6975+13del
|
rs763287238
|
|
|
NM_000051.4(ATM):c.6975+4T>G
|
rs876660240
|
|
|
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)
|
rs556778314
|
|
|
NM_000051.4(ATM):c.6976-10_6989del
|
rs587779859
|
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
|
NM_000051.4(ATM):c.7013T>C (p.Leu2338Pro)
|
rs1555120997
|
|
|
NM_000051.4(ATM):c.7089+5G>A
|
rs1351209504
|
|
|
NM_000051.4(ATM):c.7092A>G (p.Ala2364=)
|
rs1591150359
|
|
|
NM_000051.4(ATM):c.7099G>A (p.Val2367Ile)
|
rs1060501647
|
|
|
NM_000051.4(ATM):c.7106G>A (p.Gly2369Glu)
|
rs2085974792
|
|
|
NM_000051.4(ATM):c.72+2T>C
|
rs1591446206
|
|
|
NM_000051.4(ATM):c.7307+2dup
|
rs2086004268
|
|
|
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)
|
rs786203394
|
|
|
NM_000051.4(ATM):c.733G>A (p.Val245Ile)
|
rs1555067081
|
|
|
NM_000051.4(ATM):c.737A>G (p.Asn246Ser)
|
rs781023264
|
|
|
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg)
|
rs587782692
|
|
|
NM_000051.4(ATM):c.7570G>T (p.Ala2524Ser)
|
rs769142993
|
|
|
NM_000051.4(ATM):c.7630-3C>G
|
rs587782448
|
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
|
NM_000051.4(ATM):c.7818A>G (p.Ile2606Met)
|
rs1027959208
|
|
|
NM_000051.4(ATM):c.7819T>C (p.Cys2607Arg)
|
rs1459650575
|
|
|
NM_000051.4(ATM):c.7840C>T (p.Pro2614Ser)
|
rs1555125305
|
|
|
NM_000051.4(ATM):c.7841C>T (p.Pro2614Leu)
|
rs769207177
|
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
|
NM_000051.4(ATM):c.7927+13dup
|
rs587781324
|
|
|
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)
|
rs863224463
|
|
|
NM_000051.4(ATM):c.799A>G (p.Thr267Ala)
|
rs876660962
|
|
|
NM_000051.4(ATM):c.8010+5T>G
|
rs56256497
|
|
|
NM_000051.4(ATM):c.8113G>T (p.Val2705Leu)
|
rs587779870
|
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
|
NM_000051.4(ATM):c.8151+3G>A
|
rs760065522
|
|
|
NM_000051.4(ATM):c.8151G>A (p.Lys2717=)
|
rs1591192550
|
|
|
NM_000051.4(ATM):c.8211A>T (p.Thr2737=)
|
rs876660946
|
|
|
NM_000051.4(ATM):c.8268+22_8268+25del
|
rs746285826
|
|
|
NM_000051.4(ATM):c.8268+5C>T
|
rs1565544035
|
|
|
NM_000051.4(ATM):c.8268G>A (p.Lys2756=)
|
rs1555128642
|
|
|
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)
|
rs1555128642
|
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
|
NM_000051.4(ATM):c.8334A>G (p.Glu2778=)
|
rs2136946469
|
|
|
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)
|
rs587782417
|
|
|
NM_000051.4(ATM):c.8390G>A (p.Ser2797Asn)
|
rs1203037698
|
|
|
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)
|
rs1555137973
|
|
|
NM_000051.4(ATM):c.8482C>G (p.Gln2828Glu)
|
rs1555138125
|
|
|
NM_000051.4(ATM):c.8530A>C (p.Ile2844Leu)
|
rs756230327
|
|
|
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile)
|
rs794728018
|
|
|
NM_000051.4(ATM):c.8850+5A>C
|
rs1057522186
|
|
|
NM_000051.4(ATM):c.8850+5dup
|
rs1400626849
|
|
|
NM_000051.4(ATM):c.8851-16T>C
|
rs1565607217
|
|
|
NM_000051.4(ATM):c.886A>G (p.Lys296Glu)
|
rs1591504793
|
|
|
NM_000051.4(ATM):c.8942A>G (p.His2981Arg)
|
rs750441954
|
|
|
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs)
|
rs2091211325
|
|
|
NM_000051.4(ATM):c.8959G>C (p.Asp2987His)
|
rs863224582
|
|
|
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr)
|
rs863224582
|
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
|
NM_000051.4(ATM):c.8988-2A>G
|
rs786202087
|
|
|
NM_000051.4(ATM):c.8998C>G (p.Gln3000Glu)
|
rs587781698
|
|
|
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn)
|
rs587781413
|
|
|
NM_000051.4(ATM):c.9006C>G (p.Phe3002Leu)
|
rs540172506
|
|
|
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser)
|
rs144636562
|
|
|
NM_000051.4(ATM):c.901+1G>T
|
rs748840480
|
|
|
NM_000051.4(ATM):c.901+2T>C
|
rs1218815157
|
|
|
NM_000051.4(ATM):c.901G>A (p.Gly301Ser)
|
rs1064797160
|
|
|
NM_000051.4(ATM):c.9032T>C (p.Met3011Thr)
|
rs1555151804
|
|
|
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)
|
rs1057516282
|
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
|
NM_000051.4(ATM):c.921A>T (p.Lys307Asn)
|
rs1555068322
|
|
|
NM_000051.4(ATM):c.986G>A (p.Arg329Lys)
|
rs776938735
|
|
|
NM_000053.4(ATP7B):c.1027T>C (p.Ser343Pro)
|
rs2140077796
|
|
|
NM_000053.4(ATP7B):c.1215_1216delinsTG (p.Ser406Ala)
|
rs2140067853
|
|
|
NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr)
|
rs1801243
|
|
|
NM_000053.4(ATP7B):c.1301A>T (p.Asn434Ile)
|
rs762859925
|
|
|
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs)
|
rs1057517444
|
|
|
NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs)
|
rs772000260
|
|
|
NM_000053.4(ATP7B):c.1543+40G>A
|
|
|
|
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys)
|
rs375071383
|
|
|
NM_000053.4(ATP7B):c.1707+17C>A
|
rs199571857
|
|
|
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)
|
rs753962912
|
|
|
NM_000053.4(ATP7B):c.1901G>A (p.Arg634Lys)
|
|
|
|
NM_000053.4(ATP7B):c.1911C>T (p.Asn637=)
|
rs770640457
|
|
|
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)
|
rs749363958
|
|
|
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val)
|
rs587783301
|
|
|
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)
|
rs779904655
|
|
|
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)
|
rs2547825108
|
|
|
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=)
|
rs750477816
|
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
|
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)
|
rs137853284
|
|
|
NM_000053.4(ATP7B):c.2356-16del
|
rs1257703465
|
|
|
NM_000053.4(ATP7B):c.235A>C (p.Arg79=)
|
rs2547824726
|
|
|
NM_000053.4(ATP7B):c.2394C>G (p.Leu798=)
|
rs758690020
|
|
|
NM_000053.4(ATP7B):c.2447+1G>T
|
rs1958431105
|
|
|
NM_000053.4(ATP7B):c.2532del (p.Val845fs)
|
rs755709270
|
|
|
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
|
rs786204643
|
|
|
NM_000053.4(ATP7B):c.2588del (p.Pro863fs)
|
rs2139212289
|
|
|
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro)
|
rs1455758826
|
|
|
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser)
|
rs1455758826
|
|
|
NM_000053.4(ATP7B):c.2720A>G (p.Gln907Arg)
|
rs2547669800
|
|
|
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn)
|
rs540935874
|
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
|
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del)
|
rs1228359983
|
|
|
NM_000053.4(ATP7B):c.2817G>C (p.Trp939Cys)
|
rs1057517310
|
|
|
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)
|
rs1057517310
|
|
|
NM_000053.4(ATP7B):c.2866-15_2866-14del
|
rs765377141
|
|
|
NM_000053.4(ATP7B):c.2866-2del
|
rs1593681941
|
|
|
NM_000053.4(ATP7B):c.291dup (p.Ala98fs)
|
rs1566603492
|
|
|
NM_000053.4(ATP7B):c.2971_2973delinsGCA (p.Thr991Ala)
|
|
|
|
NM_000053.4(ATP7B):c.2987T>C (p.Met996Thr)
|
rs770782111
|
|
|
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=)
|
rs199581971
|
|
|
NM_000053.4(ATP7B):c.2998G>C (p.Gly1000Arg)
|
rs751078884
|
|
|
NM_000053.4(ATP7B):c.3061-12T>A
|
rs1045194246
|
|
|
NM_000053.4(ATP7B):c.3061-2A>G
|
rs1957520924
|
|
|
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)
|
rs1957518268
|
|
|
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)
|
rs762031690
|
|
|
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs)
|
rs1555285830
|
|
|
NM_000053.4(ATP7B):c.3413-10dup
|
rs774844173
|
|
|
NM_000053.4(ATP7B):c.3413-20C>T
|
rs753758073
|
|
|
NM_000053.4(ATP7B):c.3419del (p.Val1140fs)
|
|
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
|
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)
|
rs377297166
|
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
|
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)
|
rs748924063
|
|
|
NM_000053.4(ATP7B):c.360C>T (p.Gly120=)
|
rs1952028232
|
|
|
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)
|
rs781266802
|
|
|
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)
|
rs193922107
|
|
|
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)
|
rs1486594906
|
|
|
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)
|
rs1957151127
|
|
|
NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del)
|
rs1555283826
|
|
|
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)
|
rs749472361
|
|
|
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly)
|
rs557577836
|
|
|
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)
|
rs771603301
|
|
|
NM_000053.4(ATP7B):c.4125-1G>T
|
rs1293549383
|
|
|
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=)
|
rs368801566
|
|
|
NM_000053.4(ATP7B):c.49delA (p.Ile18fs)
|
|
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
|
NM_000053.4(ATP7B):c.682C>T (p.Gln228Ter)
|
|
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
|
NM_000053.4(ATP7B):c.79C>T (p.Arg27Cys)
|
|
|
|
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
|
rs572147914
|
|
|
NM_000059.4(BRCA2):c.1000C>T (p.His334Tyr)
|
rs1593891725
|
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
|
NM_000059.4(BRCA2):c.1004A>G (p.Glu335Gly)
|
rs1566222581
|
|
|
NM_000059.4(BRCA2):c.10094_10095insGAATTATAT (p.Val3365_Ser3366insAsnTyrIle)
|
rs758307938
|
|
|
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs)
|
rs276174803
|
|
|
NM_000059.4(BRCA2):c.10117C>T (p.Pro3373Ser)
|
rs2137666781
|
|
|
NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp)
|
rs1064793835
|
|
|
NM_000059.4(BRCA2):c.10151G>A (p.Arg3384Gln)
|
rs80358397
|
|
|
NM_000059.4(BRCA2):c.10160C>G (p.Thr3387Ser)
|
rs863224584
|
|
|
NM_000059.4(BRCA2):c.10162A>G (p.Thr3388Ala)
|
rs431825278
|
|
|
NM_000059.4(BRCA2):c.10171A>G (p.Ile3391Val)
|
rs778147500
|
|
|
NM_000059.4(BRCA2):c.10189T>A (p.Ser3397Thr)
|
rs876660044
|
|
|
NM_000059.4(BRCA2):c.10199G>A (p.Ser3400Asn)
|
rs763642189
|
|
|
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys)
|
rs730881600
|
|
|
NM_000059.4(BRCA2):c.10254C>G (p.Ile3418Met)
|
rs1566261647
|
|
|
NM_000059.4(BRCA2):c.1031C>G (p.Ser344Cys)
|
rs1593891776
|
|
|
NM_000059.4(BRCA2):c.1033A>G (p.Lys345Glu)
|
rs80358406
|
|
|
NM_000059.4(BRCA2):c.1045A>G (p.Lys349Glu)
|
rs2072403180
|
|
|
NM_000059.4(BRCA2):c.1051A>G (p.Lys351Glu)
|
rs1003779807
|
|
|
NM_000059.4(BRCA2):c.1052A>T (p.Lys351Ile)
|
rs1555281710
|
|
|
NM_000059.4(BRCA2):c.1058C>T (p.Ser353Leu)
|
rs769368098
|
|
|
NM_000059.4(BRCA2):c.1069G>A (p.Glu357Lys)
|
rs2072403764
|
|
|
NM_000059.4(BRCA2):c.1075G>A (p.Glu359Lys)
|
rs1555281730
|
|
|
NM_000059.4(BRCA2):c.1115A>G (p.Asn372Ser)
|
rs876658943
|
|
|
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys)
|
rs80358410
|
|
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
rs431825280
|
|
|
NM_000059.4(BRCA2):c.1148T>G (p.Ile383Ser)
|
rs2072405281
|
|
|
NM_000059.4(BRCA2):c.1153A>G (p.Lys385Glu)
|
rs80358411
|
|
|
NM_000059.4(BRCA2):c.1159G>A (p.Val387Ile)
|
rs869320791
|
|
|
NM_000059.4(BRCA2):c.1160T>G (p.Val387Gly)
|
rs373945846
|
|
|
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)
|
rs397507263
|
|
|
NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)
|
rs397507263
|
|
|
NM_000059.4(BRCA2):c.1171T>G (p.Leu391Val)
|
rs773412718
|
|
|
NM_000059.4(BRCA2):c.1183T>G (p.Trp395Gly)
|
rs80358412
|
|
|
NM_000059.4(BRCA2):c.1205G>A (p.Gly402Asp)
|
rs1566223012
|
|
|
NM_000059.4(BRCA2):c.1211A>G (p.Asn404Ser)
|
rs80358414
|
|
|
NM_000059.4(BRCA2):c.121C>T (p.Pro41Ser)
|
rs80358415
|
|
|
NM_000059.4(BRCA2):c.1220A>G (p.Gln407Arg)
|
rs1593892264
|
|
|
NM_000059.4(BRCA2):c.1222A>G (p.Met408Val)
|
rs1566223036
|
|
|
NM_000059.4(BRCA2):c.1235C>T (p.Pro412Leu)
|
rs876659628
|
|
|
NM_000059.4(BRCA2):c.1250C>A (p.Ser417Tyr)
|
rs1335782281
|
|
|
NM_000059.4(BRCA2):c.1258G>C (p.Asp420His)
|
rs2072407813
|
|
|
NM_000059.4(BRCA2):c.1259A>G (p.Asp420Gly)
|
rs786201654
|
|
|
NM_000059.4(BRCA2):c.1261C>G (p.Gln421Glu)
|
rs80358419
|
|
|
NM_000059.4(BRCA2):c.1265A>C (p.Asn422Thr)
|
rs587782755
|
|
|
NM_000059.4(BRCA2):c.1271C>T (p.Ser424Leu)
|
rs1566223138
|
|
|
NM_000059.4(BRCA2):c.1273G>A (p.Glu425Lys)
|
rs786203512
|
|
|
NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly)
|
rs768169574
|
|
|
NM_000059.4(BRCA2):c.1277A>C (p.Lys426Thr)
|
rs1421854019
|
|
|
NM_000059.4(BRCA2):c.1279G>A (p.Asp427Asn)
|
rs147797288
|
|
|
NM_000059.4(BRCA2):c.1280A>G (p.Asp427Gly)
|
rs1555281813
|
|
|
NM_000059.4(BRCA2):c.1282C>G (p.Leu428Val)
|
rs547590567
|
|
|
NM_000059.4(BRCA2):c.1292C>T (p.Thr431Ile)
|
rs876660828
|
|
|
NM_000059.4(BRCA2):c.1299C>G (p.Asn433Lys)
|
rs548313038
|
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
|
NM_000059.4(BRCA2):c.1309A>G (p.Lys437Glu)
|
rs2072409220
|
|
|
NM_000059.4(BRCA2):c.1322C>A (p.Thr441Asn)
|
rs1064793062
|
|
|
NM_000059.4(BRCA2):c.1327G>A (p.Glu443Lys)
|
rs397507579
|
|
|
NM_000059.4(BRCA2):c.1334C>A (p.Ser445Tyr)
|
rs786202373
|
|
|
NM_000059.4(BRCA2):c.1340C>T (p.Pro447Leu)
|
rs587776459
|
|
|
NM_000059.4(BRCA2):c.1354C>A (p.Leu452Ile)
|
rs80358424
|
|
|
NM_000059.4(BRCA2):c.1355T>C (p.Leu452Pro)
|
rs753512842
|
|
|
NM_000059.4(BRCA2):c.1357C>G (p.Pro453Ala)
|
rs1566223373
|
|
|
NM_000059.4(BRCA2):c.1366G>A (p.Glu456Lys)
|
rs778142232
|
|
|
NM_000059.4(BRCA2):c.1368G>A (p.Glu456=)
|
rs747489126
|
|
|
NM_000059.4(BRCA2):c.1373C>G (p.Pro458Arg)
|
rs2137470775
|
|
|
NM_000059.4(BRCA2):c.1378A>C (p.Asn460His)
|
rs1270441968
|
|
|
NM_000059.4(BRCA2):c.1379A>G (p.Asn460Ser)
|
rs777093572
|
|
|
NM_000059.4(BRCA2):c.1379A>T (p.Asn460Ile)
|
rs777093572
|
|
|
NM_000059.4(BRCA2):c.137C>G (p.Pro46Arg)
|
rs1216148236
|
|
|
NM_000059.4(BRCA2):c.1382A>C (p.Glu461Ala)
|
rs1566223455
|
|
|
NM_000059.4(BRCA2):c.1388C>T (p.Thr463Ile)
|
rs151011453
|
|
|
NM_000059.4(BRCA2):c.1401G>C (p.Lys467Asn)
|
rs276174808
|
|
|
NM_000059.4(BRCA2):c.1401G>T (p.Lys467Asn)
|
rs276174808
|
|
|
NM_000059.4(BRCA2):c.1403G>C (p.Arg468Thr)
|
rs786202940
|
|
|
NM_000059.4(BRCA2):c.1424A>G (p.Glu475Gly)
|
rs1213277350
|
|
|
NM_000059.4(BRCA2):c.1429C>T (p.His477Tyr)
|
rs2072412671
|
|
|
NM_000059.4(BRCA2):c.142G>A (p.Glu48Lys)
|
rs1555280354
|
|
|
NM_000059.4(BRCA2):c.1430A>C (p.His477Pro)
|
rs2137471377
|
|
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
rs431825282
|
|
|
NM_000059.4(BRCA2):c.1447G>C (p.Ala483Pro)
|
rs80358432
|
|
|
NM_000059.4(BRCA2):c.1447G>T (p.Ala483Ser)
|
rs80358432
|
|
|
NM_000059.4(BRCA2):c.1453A>G (p.Lys485Glu)
|
rs1566223599
|
|
|
NM_000059.4(BRCA2):c.1454A>G (p.Lys485Arg)
|
rs1593892915
|
|
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
|
NM_000059.4(BRCA2):c.1466C>T (p.Ser489Phe)
|
rs587782535
|
|
|
NM_000059.4(BRCA2):c.147A>C (p.Glu49Asp)
|
rs779648876
|
|
|
NM_000059.4(BRCA2):c.1481T>C (p.Val494Ala)
|
rs786202205
|
|
|
NM_000059.4(BRCA2):c.1483G>C (p.Ala495Pro)
|
rs80358437
|
|
|
NM_000059.4(BRCA2):c.1487C>T (p.Ser496Phe)
|
rs397507269
|
|
|
NM_000059.4(BRCA2):c.1490C>T (p.Ser497Leu)
|
rs1064794018
|
|
|
NM_000059.4(BRCA2):c.1497G>C (p.Gln499His)
|
rs2072414803
|
|
|
NM_000059.4(BRCA2):c.1504A>C (p.Lys502Gln)
|
rs276174809
|
|
|
NM_000059.4(BRCA2):c.1535C>T (p.Pro512Leu)
|
rs1184226464
|
|
|
NM_000059.4(BRCA2):c.1537A>G (p.Lys513Glu)
|
rs1555281938
|
|
|
NM_000059.4(BRCA2):c.1544C>T (p.Thr515Ile)
|
rs786202142
|
|
|
NM_000059.4(BRCA2):c.1548C>G (p.Phe516Leu)
|
rs2072416104
|
|
|
NM_000059.4(BRCA2):c.1553C>G (p.Ala518Gly)
|
rs2072416288
|
|
|
NM_000059.4(BRCA2):c.1555A>G (p.Ser519Gly)
|
rs1555281950
|
|
|
NM_000059.4(BRCA2):c.1556G>A (p.Ser519Asn)
|
rs2548520519
|
|
|
NM_000059.4(BRCA2):c.1558T>G (p.Phe520Val)
|
rs80358441
|
|
|
NM_000059.4(BRCA2):c.1561T>C (p.Ser521Pro)
|
rs864622689
|
|
|
NM_000059.4(BRCA2):c.1570A>G (p.Met524Val)
|
rs1566223875
|
|
|
NM_000059.4(BRCA2):c.1586T>A (p.Phe529Tyr)
|
rs1566223912
|
|
|
NM_000059.4(BRCA2):c.1591A>G (p.Lys531Glu)
|
rs876659050
|
|
|
NM_000059.4(BRCA2):c.1597A>G (p.Thr533Ala)
|
rs1555281980
|
|
|
NM_000059.4(BRCA2):c.1598C>T (p.Thr533Ile)
|
rs781763239
|
|
|
NM_000059.4(BRCA2):c.1613G>A (p.Ser538Asn)
|
rs994146384
|
|
|
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.1627C>T (p.His543Tyr)
|
rs80358446
|
|
|
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del)
|
rs11571587
|
|
|
NM_000059.4(BRCA2):c.1630A>G (p.Thr544Ala)
|
rs80358447
|
|
|
NM_000059.4(BRCA2):c.1640C>T (p.Ser547Leu)
|
rs80358449
|
|
|
NM_000059.4(BRCA2):c.1644G>C (p.Gln548His)
|
rs55986646
|
|
|
NM_000059.4(BRCA2):c.1645A>G (p.Lys549Glu)
|
rs1555281997
|
|
|
NM_000059.4(BRCA2):c.1652A>G (p.Asp551Gly)
|
rs1555282001
|
|
|
NM_000059.4(BRCA2):c.1653_1655delinsGGA (p.Asp551_Ser552delinsGluAsp)
|
rs2548520717
|
|
|
NM_000059.4(BRCA2):c.1655C>A (p.Ser552Tyr)
|
rs1566224045
|
|
|
NM_000059.4(BRCA2):c.1660T>C (p.Cys554Arg)
|
rs786202149
|
|
|
NM_000059.4(BRCA2):c.1661G>A (p.Cys554Tyr)
|
rs748215651
|
|
|
NM_000059.4(BRCA2):c.1663C>A (p.Pro555Thr)
|
rs876660590
|
|
|
NM_000059.4(BRCA2):c.1664C>T (p.Pro555Leu)
|
rs1566224075
|
|
|
NM_000059.4(BRCA2):c.1674T>G (p.Ile558Met)
|
rs2072419497
|
|
|
NM_000059.4(BRCA2):c.1689G>T (p.Trp563Cys)
|
rs80358456
|
|
|
NM_000059.4(BRCA2):c.1703C>T (p.Thr568Ile)
|
rs2072420088
|
|
|
NM_000059.4(BRCA2):c.1706A>G (p.Gln569Arg)
|
rs1566224153
|
|
|
NM_000059.4(BRCA2):c.1709A>G (p.Asn570Ser)
|
rs431825284
|
|
|
NM_000059.4(BRCA2):c.1714G>C (p.Val572Leu)
|
rs587782713
|
|
|
NM_000059.4(BRCA2):c.1718C>G (p.Ala573Gly)
|
rs1262187089
|
|
|
NM_000059.4(BRCA2):c.1728T>A (p.Asn576Lys)
|
rs1555282035
|
|
|
NM_000059.4(BRCA2):c.1728T>G (p.Asn576Lys)
|
rs1555282035
|
|
|
NM_000059.4(BRCA2):c.1732G>C (p.Gly578Arg)
|
rs1555282036
|
|
|
NM_000059.4(BRCA2):c.1733G>A (p.Gly578Asp)
|
rs398122730
|
|
|
NM_000059.4(BRCA2):c.1740A>G (p.Ile580Met)
|
rs750989404
|
|
|
NM_000059.4(BRCA2):c.1744A>G (p.Thr582Ala)
|
rs80358457
|
|
|
NM_000059.4(BRCA2):c.1754A>G (p.Lys585Arg)
|
rs1555282049
|
|
|
NM_000059.4(BRCA2):c.1756A>G (p.Lys586Glu)
|
rs397507275
|
|
|
NM_000059.4(BRCA2):c.1766A>G (p.Lys589Arg)
|
rs2072421535
|
|
|
NM_000059.4(BRCA2):c.1771A>C (p.Ile591Leu)
|
rs786203548
|
|
|
NM_000059.4(BRCA2):c.1771A>G (p.Ile591Val)
|
rs786203548
|
|
|
NM_000059.4(BRCA2):c.1772T>C (p.Ile591Thr)
|
rs876660511
|
|
|
NM_000059.4(BRCA2):c.1784A>G (p.His595Arg)
|
rs80358460
|
|
|
NM_000059.4(BRCA2):c.1796C>G (p.Ser599Cys)
|
rs1046984
|
|
|
NM_000059.4(BRCA2):c.1799A>T (p.Tyr600Phe)
|
rs397507276
|
|
|
NM_000059.4(BRCA2):c.1802A>G (p.Lys601Arg)
|
rs1593893911
|
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
|
NM_000059.4(BRCA2):c.1816C>G (p.Pro606Ala)
|
rs765924757
|
|
|
NM_000059.4(BRCA2):c.1819A>G (p.Lys607Glu)
|
rs80358471
|
|
|
NM_000059.4(BRCA2):c.1824C>G (p.Asp608Glu)
|
rs786202186
|
|
|
NM_000059.4(BRCA2):c.1825C>G (p.Gln609Glu)
|
rs80358472
|
|
|
NM_000059.4(BRCA2):c.1834G>A (p.Glu612Lys)
|
rs1135401938
|
|
|
NM_000059.4(BRCA2):c.1834_1835delinsTT (p.Glu612Leu)
|
rs1555282105
|
|
|
NM_000059.4(BRCA2):c.1835A>T (p.Glu612Val)
|
rs2137475426
|
|
|
NM_000059.4(BRCA2):c.1843A>T (p.Asn615Tyr)
|
rs777641881
|
|
|
NM_000059.4(BRCA2):c.1844A>G (p.Asn615Ser)
|
rs1593894051
|
|
|
NM_000059.4(BRCA2):c.1847G>C (p.Cys616Ser)
|
rs1230674723
|
|
|
NM_000059.4(BRCA2):c.1850C>T (p.Ser617Leu)
|
rs397507278
|
|
|
NM_000059.4(BRCA2):c.1861_1863delinsAGC (p.Glu621Ser)
|
rs2072424315
|
|
|
NM_000059.4(BRCA2):c.1867A>C (p.Asn623His)
|
rs1060502388
|
|
|
NM_000059.4(BRCA2):c.1871C>G (p.Ala624Gly)
|
rs769698255
|
|
|
NM_000059.4(BRCA2):c.1871C>T (p.Ala624Val)
|
rs769698255
|
|
|
NM_000059.4(BRCA2):c.1874T>G (p.Phe625Cys)
|
rs587779359
|
|
|
NM_000059.4(BRCA2):c.1885C>T (p.Leu629Phe)
|
rs398122734
|
|
|
NM_000059.4(BRCA2):c.1895C>G (p.Ala632Gly)
|
rs876659192
|
|
|
NM_000059.4(BRCA2):c.1897A>G (p.Asn633Asp)
|
rs2137476122
|
|
|
NM_000059.4(BRCA2):c.1905T>A (p.Asp635Glu)
|
rs1555282154
|
|
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
rs1555282154
|
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
|
NM_000059.4(BRCA2):c.1909+22del
|
rs276174816
|
|
|
NM_000059.4(BRCA2):c.1909+22dup
|
rs276174816
|
|
|
NM_000059.4(BRCA2):c.1909+9_1909+10del
|
rs527732001
|
|
|
NM_000059.4(BRCA2):c.191C>T (p.Thr64Ile)
|
rs397507615
|
|
|
NM_000059.4(BRCA2):c.1927G>C (p.Val643Leu)
|
rs748394046
|
|
|
NM_000059.4(BRCA2):c.1931A>G (p.Lys644Arg)
|
rs1555282365
|
|
|
NM_000059.4(BRCA2):c.1938C>G (p.Ser646Arg)
|
rs28897711
|
|
|
NM_000059.4(BRCA2):c.1939T>C (p.Cys647Arg)
|
rs1555282367
|
|
|
NM_000059.4(BRCA2):c.1940G>C (p.Cys647Ser)
|
rs1555282368
|
|
|
NM_000059.4(BRCA2):c.1951G>T (p.Asp651Tyr)
|
rs80358482
|
|
|
NM_000059.4(BRCA2):c.1952A>G (p.Asp651Gly)
|
rs747387987
|
|
|
NM_000059.4(BRCA2):c.1963C>T (p.Pro655Ser)
|
rs1566225847
|
|
|
NM_000059.4(BRCA2):c.1973C>T (p.Ser658Phe)
|
rs775060172
|
|
|
NM_000059.4(BRCA2):c.1981A>G (p.Ser661Gly)
|
rs2072448315
|
|
|
NM_000059.4(BRCA2):c.2016A>C (p.Arg672Ser)
|
rs1566225944
|
|
|
NM_000059.4(BRCA2):c.2024C>G (p.Thr675Arg)
|
rs80358484
|
|
|
NM_000059.4(BRCA2):c.2029T>G (p.Ser677Ala)
|
rs876658723
|
|
|
NM_000059.4(BRCA2):c.2030C>G (p.Ser677Cys)
|
rs1555282410
|
|
|
NM_000059.4(BRCA2):c.2033A>C (p.Asn678Thr)
|
rs1555282412
|
|
|
NM_000059.4(BRCA2):c.2035A>C (p.Asn679His)
|
rs786202617
|
|
|
NM_000059.4(BRCA2):c.2035A>G (p.Asn679Asp)
|
rs786202617
|
|
|
NM_000059.4(BRCA2):c.2037T>A (p.Asn679Lys)
|
rs1406955615
|
|
|
NM_000059.4(BRCA2):c.2039C>T (p.Thr680Ile)
|
rs1566226005
|
|
|
NM_000059.4(BRCA2):c.2042T>C (p.Val681Ala)
|
rs1039304689
|
|
|
NM_000059.4(BRCA2):c.2044A>T (p.Ile682Phe)
|
rs398122738
|
|
|
NM_000059.4(BRCA2):c.2048C>T (p.Ser683Phe)
|
rs1566226030
|
|
|
NM_000059.4(BRCA2):c.2054A>T (p.Asp685Val)
|
rs1555282420
|
|
|
NM_000059.4(BRCA2):c.2059G>A (p.Asp687Asn)
|
rs2072449688
|
|
|
NM_000059.4(BRCA2):c.2063A>G (p.Tyr688Cys)
|
rs28897713
|
|
|
NM_000059.4(BRCA2):c.2071G>A (p.Ala691Thr)
|
rs431825290
|
|
|
NM_000059.4(BRCA2):c.2077T>C (p.Cys693Arg)
|
rs878853558
|
|
|
NM_000059.4(BRCA2):c.2086G>A (p.Glu696Lys)
|
rs431825291
|
|
|
NM_000059.4(BRCA2):c.2097G>T (p.Gln699His)
|
rs80358486
|
|
|
NM_000059.4(BRCA2):c.2098T>A (p.Leu700Ile)
|
rs431825293
|
|
|
NM_000059.4(BRCA2):c.2104A>G (p.Ile702Val)
|
rs774968533
|
|
|
NM_000059.4(BRCA2):c.2123C>A (p.Ser708Tyr)
|
rs1593896146
|
|
|
NM_000059.4(BRCA2):c.2129C>T (p.Ser710Leu)
|
rs886040405
|
|
|
NM_000059.4(BRCA2):c.2132G>A (p.Cys711Tyr)
|
rs2072451032
|
|
|
NM_000059.4(BRCA2):c.2135T>C (p.Leu712Pro)
|
rs80358490
|
|
|
NM_000059.4(BRCA2):c.2144G>A (p.Gly715Glu)
|
rs1566226193
|
|
|
NM_000059.4(BRCA2):c.2149T>G (p.Cys717Gly)
|
rs1555282483
|
|
|
NM_000059.4(BRCA2):c.2150G>A (p.Cys717Tyr)
|
rs1184992634
|
|
|
NM_000059.4(BRCA2):c.2152G>A (p.Glu718Lys)
|
rs397507281
|
|
|
NM_000059.4(BRCA2):c.2161C>T (p.Pro721Ser)
|
rs867089743
|
|
|
NM_000059.4(BRCA2):c.2168G>A (p.Ser723Asn)
|
rs2137483887
|
|
|
NM_000059.4(BRCA2):c.2182G>T (p.Asp728Tyr)
|
rs1566226248
|
|
|
NM_000059.4(BRCA2):c.2183A>C (p.Asp728Ala)
|
rs757577670
|
|
|
NM_000059.4(BRCA2):c.2185A>G (p.Ile729Val)
|
rs431825295
|
|
|
NM_000059.4(BRCA2):c.2187A>G (p.Ile729Met)
|
rs397507620
|
|
|
NM_000059.4(BRCA2):c.2188A>G (p.Lys730Glu)
|
rs1555282510
|
|
|
NM_000059.4(BRCA2):c.2194G>C (p.Glu732Gln)
|
rs1244303575
|
|
|
NM_000059.4(BRCA2):c.2197G>A (p.Val733Ile)
|
rs876658303
|
|
|
NM_000059.4(BRCA2):c.2201T>C (p.Leu734Ser)
|
rs2548523378
|
|
|
NM_000059.4(BRCA2):c.2210C>G (p.Ala737Gly)
|
rs876660923
|
|
|
NM_000059.4(BRCA2):c.2221G>C (p.Val741Leu)
|
rs80358493
|
|
|
NM_000059.4(BRCA2):c.2224C>A (p.Gln742Lys)
|
rs80358494
|
|
|
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)
|
rs397507283
|
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
|
NM_000059.4(BRCA2):c.2248G>C (p.Asp750His)
|
rs773125650
|
|
|
NM_000059.4(BRCA2):c.2256C>G (p.Asp752Glu)
|
rs766384913
|
|
|
NM_000059.4(BRCA2):c.2260C>A (p.Gln754Lys)
|
rs80358496
|
|
|
NM_000059.4(BRCA2):c.2261A>G (p.Gln754Arg)
|
rs56289428
|
|
|
NM_000059.4(BRCA2):c.2264C>G (p.Ser755Cys)
|
rs876659060
|
|
|
NM_000059.4(BRCA2):c.2280A>C (p.Leu760Phe)
|
rs1593896537
|
|
|
NM_000059.4(BRCA2):c.2281T>C (p.Tyr761His)
|
rs80358499
|
|
|
NM_000059.4(BRCA2):c.2282A>C (p.Tyr761Ser)
|
rs879255443
|
|
|
NM_000059.4(BRCA2):c.2282A>G (p.Tyr761Cys)
|
rs879255443
|
|
|
NM_000059.4(BRCA2):c.2285A>T (p.Asp762Val)
|
rs1555282600
|
|
|
NM_000059.4(BRCA2):c.2300G>A (p.Ser767Asn)
|
rs2137485146
|
|
|
NM_000059.4(BRCA2):c.2303C>A (p.Thr768Asn)
|
rs55824746
|
|
|
NM_000059.4(BRCA2):c.2303C>T (p.Thr768Ile)
|
rs55824746
|
|
|
NM_000059.4(BRCA2):c.2315C>T (p.Thr772Ile)
|
rs1064794522
|
|
|
NM_000059.4(BRCA2):c.2321C>T (p.Thr774Ile)
|
rs1239876081
|
|
|
NM_000059.4(BRCA2):c.2323T>A (p.Ser775Thr)
|
rs879255444
|
|
|
NM_000059.4(BRCA2):c.2329G>T (p.Asp777Tyr)
|
rs2072455387
|
|
|
NM_000059.4(BRCA2):c.2344C>G (p.Leu782Val)
|
rs749810048
|
|
|
NM_000059.4(BRCA2):c.2348T>C (p.Val783Ala)
|
rs768143929
|
|
|
NM_000059.4(BRCA2):c.2357C>G (p.Ser786Cys)
|
rs80358501
|
|
|
NM_000059.4(BRCA2):c.2362G>A (p.Gly788Ser)
|
rs1060502434
|
|
|
NM_000059.4(BRCA2):c.2369A>T (p.Glu790Val)
|
rs1555282644
|
|
|
NM_000059.4(BRCA2):c.2380A>G (p.Met794Val)
|
rs786203635
|
|
|
NM_000059.4(BRCA2):c.2382G>A (p.Met794Ile)
|
rs1555282646
|
|
|
NM_000059.4(BRCA2):c.2386G>C (p.Asp796His)
|
rs1555282650
|
|
|
NM_000059.4(BRCA2):c.2389A>C (p.Lys797Gln)
|
rs587782737
|
|
|
NM_000059.4(BRCA2):c.2396A>G (p.Lys799Arg)
|
rs1555282656
|
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
|
NM_000059.4(BRCA2):c.2441C>T (p.Pro814Leu)
|
rs80358510
|
|
|
NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr)
|
rs1303254121
|
|
|
NM_000059.4(BRCA2):c.2451G>C (p.Lys817Asn)
|
rs767686668
|
|
|
NM_000059.4(BRCA2):c.2457A>C (p.Gln819His)
|
rs1555282684
|
|
|
NM_000059.4(BRCA2):c.2458G>A (p.Asp820Asn)
|
rs1593896974
|
|
|
NM_000059.4(BRCA2):c.2460T>G (p.Asp820Glu)
|
rs1555282686
|
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
|
NM_000059.4(BRCA2):c.2473A>G (p.Asn825Asp)
|
rs587781483
|
|
|
NM_000059.4(BRCA2):c.2475T>G (p.Asn825Lys)
|
rs1566226801
|
|
|
NM_000059.4(BRCA2):c.2476G>A (p.Glu826Lys)
|
rs1566226803
|
|
|
NM_000059.4(BRCA2):c.2477A>G (p.Glu826Gly)
|
rs1214763097
|
|
|
NM_000059.4(BRCA2):c.2490C>A (p.Asn830Lys)
|
rs56331088
|
|
|
NM_000059.4(BRCA2):c.2490C>G (p.Asn830Lys)
|
rs56331088
|
|
|
NM_000059.4(BRCA2):c.250C>G (p.Gln84Glu)
|
rs80358515
|
|
|
NM_000059.4(BRCA2):c.2514A>C (p.Lys838Asn)
|
rs2072459198
|
|
|
NM_000059.4(BRCA2):c.2515T>C (p.Tyr839His)
|
rs587778125
|
|
|
NM_000059.4(BRCA2):c.2518A>G (p.Met840Val)
|
rs2072459289
|
|
|
NM_000059.4(BRCA2):c.2519T>C (p.Met840Thr)
|
rs758009637
|
|
|
NM_000059.4(BRCA2):c.2520G>A (p.Met840Ile)
|
rs1566226868
|
|
|
NM_000059.4(BRCA2):c.2522G>A (p.Arg841Lys)
|
rs587781915
|
|
|
NM_000059.4(BRCA2):c.2522G>C (p.Arg841Thr)
|
rs587781915
|
|
|
NM_000059.4(BRCA2):c.2533_2534delinsGA (p.Pro845Asp)
|
rs2137487466
|
|
|
NM_000059.4(BRCA2):c.2549A>G (p.Gln850Arg)
|
rs2072459937
|
|
|
NM_000059.4(BRCA2):c.2556C>G (p.Asn852Lys)
|
rs1566226932
|
|
|
NM_000059.4(BRCA2):c.2558A>G (p.Gln853Arg)
|
rs56245590
|
|
|
NM_000059.4(BRCA2):c.2569C>G (p.Leu857Val)
|
rs767596766
|
|
|
NM_000059.4(BRCA2):c.2578A>G (p.Ile860Val)
|
rs786202072
|
|
|
NM_000059.4(BRCA2):c.2581C>A (p.Gln861Lys)
|
rs773356478
|
|
|
NM_000059.4(BRCA2):c.2585A>G (p.Lys862Arg)
|
rs876659257
|
|
|
NM_000059.4(BRCA2):c.2588A>C (p.Asn863Thr)
|
rs760880622
|
|
|
NM_000059.4(BRCA2):c.2590C>A (p.Gln864Lys)
|
rs1060502414
|
|
|
NM_000059.4(BRCA2):c.2591A>C (p.Gln864Pro)
|
rs876659547
|
|
|
NM_000059.4(BRCA2):c.2591A>T (p.Gln864Leu)
|
rs876659547
|
|
|
NM_000059.4(BRCA2):c.2597A>T (p.Glu866Val)
|
rs1555282752
|
|
|
NM_000059.4(BRCA2):c.2598A>T (p.Glu866Asp)
|
rs587780549
|
|
|
NM_000059.4(BRCA2):c.2602A>C (p.Thr868Pro)
|
rs1368861313
|
|
|
NM_000059.4(BRCA2):c.2617A>C (p.Ile873Leu)
|
rs2072461250
|
|
|
NM_000059.4(BRCA2):c.2623G>A (p.Val875Ile)
|
rs587782582
|
|
|
NM_000059.4(BRCA2):c.2629C>A (p.Pro877Thr)
|
rs80358524
|
|
|
NM_000059.4(BRCA2):c.2629C>G (p.Pro877Ala)
|
rs80358524
|
|
|
NM_000059.4(BRCA2):c.2632G>C (p.Asp878His)
|
rs1593897379
|
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
|
NM_000059.4(BRCA2):c.2660A>G (p.Glu887Gly)
|
rs587782015
|
|
|
NM_000059.4(BRCA2):c.2663A>G (p.Asn888Ser)
|
rs1593897475
|
|
|
NM_000059.4(BRCA2):c.2667T>C (p.Asn889=)
|
rs587782469
|
|
|
NM_000059.4(BRCA2):c.2671G>A (p.Val891Ile)
|
rs756951335
|
|
|
NM_000059.4(BRCA2):c.2672T>A (p.Val891Asp)
|
rs1593897497
|
|
|
NM_000059.4(BRCA2):c.2674T>C (p.Phe892Leu)
|
rs1593897508
|
|
|
NM_000059.4(BRCA2):c.2683G>A (p.Ala895Thr)
|
rs786203045
|
|
|
NM_000059.4(BRCA2):c.2683G>T (p.Ala895Ser)
|
rs786203045
|
|
|
NM_000059.4(BRCA2):c.2687A>T (p.Asn896Ile)
|
rs2072462890
|
|
|
NM_000059.4(BRCA2):c.2689G>A (p.Glu897Lys)
|
rs979372317
|
|
|
NM_000059.4(BRCA2):c.2698A>C (p.Asn900His)
|
rs55736268
|
|
|
NM_000059.4(BRCA2):c.2704G>C (p.Ala902Pro)
|
rs768648043
|
|
|
NM_000059.4(BRCA2):c.2704G>T (p.Ala902Ser)
|
rs768648043
|
|
|
NM_000059.4(BRCA2):c.2705C>T (p.Ala902Val)
|
rs749258007
|
|
|
NM_000059.4(BRCA2):c.2714A>G (p.Asn905Ser)
|
rs730881515
|
|
|
NM_000059.4(BRCA2):c.2723A>C (p.Glu908Ala)
|
rs786202254
|
|
|
NM_000059.4(BRCA2):c.2725C>T (p.Leu909Phe)
|
rs876660858
|
|
|
NM_000059.4(BRCA2):c.2728C>T (p.His910Tyr)
|
rs1555282812
|
|
|
NM_000059.4(BRCA2):c.2731G>C (p.Glu911Gln)
|
rs2072463630
|
|
|
NM_000059.4(BRCA2):c.2742G>C (p.Leu914Phe)
|
rs759767392
|
|
|
NM_000059.4(BRCA2):c.2743A>T (p.Thr915Ser)
|
rs2137489400
|
|
|
NM_000059.4(BRCA2):c.2758C>A (p.Pro920Thr)
|
rs397507293
|
|
|
NM_000059.4(BRCA2):c.2759C>T (p.Pro920Leu)
|
rs1555282835
|
|
|
NM_000059.4(BRCA2):c.2761A>G (p.Ile921Val)
|
rs1555282836
|
|
|
NM_000059.4(BRCA2):c.2765T>G (p.Phe922Cys)
|
rs1555282838
|
|
|
NM_000059.4(BRCA2):c.2769G>T (p.Lys923Asn)
|
rs2137489694
|
|
|
NM_000059.4(BRCA2):c.2798C>G (p.Thr933Arg)
|
rs276174830
|
|
|
NM_000059.4(BRCA2):c.2800G>A (p.Gly934Ser)
|
rs1555282859
|
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
|
NM_000059.4(BRCA2):c.2810A>C (p.Gln937Pro)
|
rs730881516
|
|
|
NM_000059.4(BRCA2):c.2835A>C (p.Lys945Asn)
|
rs398122755
|
|
|
NM_000059.4(BRCA2):c.2836G>C (p.Asp946His)
|
rs80358534
|
|
|
NM_000059.4(BRCA2):c.2838T>A (p.Asp946Glu)
|
rs149753706
|
|
|
NM_000059.4(BRCA2):c.2842G>A (p.Val948Ile)
|
rs1555282901
|
|
|
NM_000059.4(BRCA2):c.2843T>C (p.Val948Ala)
|
rs730881517
|
|
|
NM_000059.4(BRCA2):c.2852T>C (p.Leu951Pro)
|
rs2137490572
|
|
|
NM_000059.4(BRCA2):c.2854G>T (p.Ala952Ser)
|
rs80358536
|
|
|
NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del)
|
rs80359360
|
|
|
NM_000059.4(BRCA2):c.2870A>G (p.Asn957Ser)
|
rs1555282918
|
|
|
NM_000059.4(BRCA2):c.2874T>G (p.Ser958Arg)
|
rs1566227393
|
|
|
NM_000059.4(BRCA2):c.2875G>A (p.Val959Ile)
|
rs1555282921
|
|
|
NM_000059.4(BRCA2):c.2882A>T (p.Gln961Leu)
|
rs2072467086
|
|
|
NM_000059.4(BRCA2):c.2900T>C (p.Leu967Pro)
|
rs786202161
|
|
|
NM_000059.4(BRCA2):c.2905C>A (p.Gln969Lys)
|
rs886038080
|
|
|
NM_000059.4(BRCA2):c.2906A>G (p.Gln969Arg)
|
rs1555282933
|
|
|
NM_000059.4(BRCA2):c.2908G>C (p.Asp970His)
|
rs397507295
|
|
|
NM_000059.4(BRCA2):c.2909A>G (p.Asp970Gly)
|
rs2072467657
|
|
|
NM_000059.4(BRCA2):c.2922C>G (p.Asp974Glu)
|
rs929538989
|
|
|
NM_000059.4(BRCA2):c.2923A>G (p.Ile975Val)
|
rs757213764
|
|
|
NM_000059.4(BRCA2):c.2924T>G (p.Ile975Ser)
|
rs398122756
|
|
|
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)
|
rs276174831
|
|
|
NM_000059.4(BRCA2):c.2936T>C (p.Ile979Thr)
|
rs876659200
|
|
|
NM_000059.4(BRCA2):c.2937A>G (p.Ile979Met)
|
rs397507297
|
|
|
NM_000059.4(BRCA2):c.2938G>C (p.Asp980His)
|
rs397507298
|
|
|
NM_000059.4(BRCA2):c.2938G>T (p.Asp980Tyr)
|
rs397507298
|
|
|
NM_000059.4(BRCA2):c.2939A>G (p.Asp980Gly)
|
rs1250767974
|
|
|
NM_000059.4(BRCA2):c.2947C>A (p.Pro983Thr)
|
rs587781848
|
|
|
NM_000059.4(BRCA2):c.2960A>G (p.Asn987Ser)
|
rs2227944
|
|
|
NM_000059.4(BRCA2):c.2968A>G (p.Met990Val)
|
rs876660083
|
|
|
NM_000059.4(BRCA2):c.2983G>A (p.Gly995Arg)
|
rs886040457
|
|
|
NM_000059.4(BRCA2):c.2990T>C (p.Leu997Ser)
|
rs397507649
|
|
|
NM_000059.4(BRCA2):c.2998A>C (p.Ile1000Leu)
|
rs1555282999
|
|
|
NM_000059.4(BRCA2):c.299A>C (p.Lys100Thr)
|
rs2072290145
|
|
|
NM_000059.4(BRCA2):c.3007C>A (p.His1003Asn)
|
rs878853565
|
|
|
NM_000059.4(BRCA2):c.3009C>A (p.His1003Gln)
|
rs2072470391
|
|
|
NM_000059.4(BRCA2):c.3010A>G (p.Ser1004Gly)
|
rs398122759
|
|
|
NM_000059.4(BRCA2):c.3011G>A (p.Ser1004Asn)
|
rs1593898366
|
|
|
NM_000059.4(BRCA2):c.3012T>G (p.Ser1004Arg)
|
rs1555283009
|
|
|
NM_000059.4(BRCA2):c.3014T>C (p.Phe1005Ser)
|
rs2072470533
|
|
|
NM_000059.4(BRCA2):c.3019G>A (p.Gly1007Ser)
|
rs2137492293
|
|
|
NM_000059.4(BRCA2):c.3025T>C (p.Phe1009Leu)
|
rs2137492339
|
|
|
NM_000059.4(BRCA2):c.3032C>T (p.Thr1011Ile)
|
rs80358548
|
|
|
NM_000059.4(BRCA2):c.3040A>G (p.Asn1014Asp)
|
rs1390034820
|
|
|
NM_000059.4(BRCA2):c.3042T>G (p.Asn1014Lys)
|
rs1593898407
|
|
|
NM_000059.4(BRCA2):c.3044A>C (p.Lys1015Thr)
|
rs1000398743
|
|
|
NM_000059.4(BRCA2):c.3053A>G (p.Lys1018Arg)
|
rs587782855
|
|
|
NM_000059.4(BRCA2):c.3056T>G (p.Leu1019Arg)
|
rs1299627822
|
|
|
NM_000059.4(BRCA2):c.305A>G (p.Lys102Arg)
|
rs80358549
|
|
|
NM_000059.4(BRCA2):c.3064C>T (p.His1022Tyr)
|
rs765882871
|
|
|
NM_000059.4(BRCA2):c.3065A>G (p.His1022Arg)
|
rs1032226790
|
|
|
NM_000059.4(BRCA2):c.3068A>G (p.Asn1023Ser)
|
rs776196396
|
|
|
NM_000059.4(BRCA2):c.3070A>G (p.Ile1024Val)
|
rs876659687
|
|
|
NM_000059.4(BRCA2):c.3071T>C (p.Ile1024Thr)
|
rs764921920
|
|
|
NM_000059.4(BRCA2):c.3092T>C (p.Phe1031Ser)
|
rs80358555
|
|
|
NM_000059.4(BRCA2):c.3110A>G (p.Gln1037Arg)
|
rs1566227808
|
|
|
NM_000059.4(BRCA2):c.3119C>A (p.Thr1040Asn)
|
rs587781475
|
|
|
NM_000059.4(BRCA2):c.3119C>T (p.Thr1040Ile)
|
rs587781475
|
|
|
NM_000059.4(BRCA2):c.3122G>C (p.Ser1041Thr)
|
rs276174832
|
|
|
NM_000059.4(BRCA2):c.3152T>C (p.Leu1051Ser)
|
rs778281493
|
|
|
NM_000059.4(BRCA2):c.3154G>A (p.Ala1052Thr)
|
rs730881520
|
|
|
NM_000059.4(BRCA2):c.3155C>T (p.Ala1052Val)
|
rs1060502453
|
|
|
NM_000059.4(BRCA2):c.316+5G>A
|
rs81002840
|
|
|
NM_000059.4(BRCA2):c.3165T>G (p.Asn1055Lys)
|
rs1064793384
|
|
|
NM_000059.4(BRCA2):c.3169A>C (p.Lys1057Gln)
|
rs1566227924
|
|
|
NM_000059.4(BRCA2):c.317-17T>A
|
rs1593885822
|
|
|
NM_000059.4(BRCA2):c.3170A>G (p.Lys1057Arg)
|
rs80358562
|
|
|
NM_000059.4(BRCA2):c.3172A>C (p.Lys1058Gln)
|
rs730881521
|
|
|
NM_000059.4(BRCA2):c.3188A>C (p.Gln1063Pro)
|
rs775030825
|
|
|
NM_000059.4(BRCA2):c.3200C>T (p.Thr1067Ile)
|
rs1555283092
|
|
|
NM_000059.4(BRCA2):c.3208G>A (p.Ala1070Thr)
|
rs372433502
|
|
|
NM_000059.4(BRCA2):c.3212A>G (p.His1071Arg)
|
rs80358565
|
|
|
NM_000059.4(BRCA2):c.3224G>T (p.Ser1075Ile)
|
rs2137494493
|
|
|
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)
|
rs431825304
|
|
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
rs80358568
|
|
|
NM_000059.4(BRCA2):c.3241T>G (p.Cys1081Gly)
|
rs1555283117
|
|
|
NM_000059.4(BRCA2):c.3242G>A (p.Cys1081Tyr)
|
rs752871893
|
|
|
NM_000059.4(BRCA2):c.325G>A (p.Val109Ile)
|
rs1359975493
|
|
|
NM_000059.4(BRCA2):c.3260C>T (p.Thr1087Ile)
|
rs1555283123
|
|
|
NM_000059.4(BRCA2):c.3263C>T (p.Pro1088Leu)
|
rs876660365
|
|
|
NM_000059.4(BRCA2):c.3269T>G (p.Met1090Arg)
|
rs2137494922
|
|
|
NM_000059.4(BRCA2):c.3270G>C (p.Met1090Ile)
|
rs80358574
|
|
|
NM_000059.4(BRCA2):c.3273A>C (p.Leu1091Phe)
|
rs1566228204
|
|
|
NM_000059.4(BRCA2):c.3296C>T (p.Ser1099Leu)
|
rs397507663
|
|
|
NM_000059.4(BRCA2):c.3300C>A (p.Asn1100Lys)
|
rs1555283155
|
|
|
NM_000059.4(BRCA2):c.3318C>G (p.Ser1106Arg)
|
rs1298550035
|
|
|
NM_000059.4(BRCA2):c.3320A>C (p.Gln1107Pro)
|
rs1593899174
|
|
|
NM_000059.4(BRCA2):c.3321A>C (p.Gln1107His)
|
rs397507306
|
|
|
NM_000059.4(BRCA2):c.3325G>A (p.Ala1109Thr)
|
rs752886421
|
|
|
NM_000059.4(BRCA2):c.3329A>C (p.Glu1110Ala)
|
rs587782072
|
|
|
NM_000059.4(BRCA2):c.3329A>G (p.Glu1110Gly)
|
rs587782072
|
|
|
NM_000059.4(BRCA2):c.3346A>C (p.Thr1116Pro)
|
rs786204212
|
|
|
NM_000059.4(BRCA2):c.3346A>G (p.Thr1116Ala)
|
rs786204212
|
|
|
NM_000059.4(BRCA2):c.3349A>G (p.Ile1117Val)
|
rs397507307
|
|
|
NM_000059.4(BRCA2):c.3351A>G (p.Ile1117Met)
|
rs730881522
|
|
|
NM_000059.4(BRCA2):c.3360A>C (p.Glu1120Asp)
|
rs2137495828
|
|
|
NM_000059.4(BRCA2):c.3368G>C (p.Ser1123Thr)
|
rs1555283202
|
|
|
NM_000059.4(BRCA2):c.3371A>G (p.Gln1124Arg)
|
rs1555283204
|
|
|
NM_000059.4(BRCA2):c.3379T>C (p.Phe1127Leu)
|
rs1566228395
|
|
|
NM_000059.4(BRCA2):c.3382A>G (p.Thr1128Ala)
|
rs730881523
|
|
|
NM_000059.4(BRCA2):c.338G>A (p.Arg113Lys)
|
rs876659161
|
|
|
NM_000059.4(BRCA2):c.3392G>A (p.Arg1131Lys)
|
rs1555283214
|
|
|
NM_000059.4(BRCA2):c.3395_3396delinsGG (p.Lys1132Arg)
|
rs1060502496
|
|
|
NM_000059.4(BRCA2):c.3406A>T (p.Ile1136Leu)
|
rs876658683
|
|
|
NM_000059.4(BRCA2):c.340C>T (p.His114Tyr)
|
rs587778129
|
|
|
NM_000059.4(BRCA2):c.3413A>T (p.Gln1138Leu)
|
rs80358584
|
|
|
NM_000059.4(BRCA2):c.3422C>T (p.Thr1141Ile)
|
rs397507308
|
|
|
NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly)
|
rs80358588
|
|
|
NM_000059.4(BRCA2):c.3437A>T (p.Glu1146Val)
|
rs80358588
|
|
|
NM_000059.4(BRCA2):c.3444G>C (p.Gln1148His)
|
rs1555283240
|
|
|
NM_000059.4(BRCA2):c.3445A>T (p.Met1149Leu)
|
rs80358589
|
|
|
NM_000059.4(BRCA2):c.3446T>C (p.Met1149Thr)
|
rs80358590
|
|
|
NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)
|
rs876660471
|
|
|
NM_000059.4(BRCA2):c.3448A>T (p.Thr1150Ser)
|
rs367789070
|
|
|
NM_000059.4(BRCA2):c.3464C>G (p.Thr1155Ser)
|
rs1406283407
|
|
|
NM_000059.4(BRCA2):c.3475T>C (p.Cys1159Arg)
|
rs886037814
|
|
|
NM_000059.4(BRCA2):c.3482A>T (p.Asp1161Val)
|
rs1060502458
|
|
|
NM_000059.4(BRCA2):c.3485C>T (p.Ala1162Val)
|
rs587778122
|
|
|
NM_000059.4(BRCA2):c.3497T>C (p.Val1166Ala)
|
rs762886975
|
|
|
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys)
|
rs80358598
|
|
|
NM_000059.4(BRCA2):c.3503T>C (p.Met1168Thr)
|
rs80358598
|
|
|
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp)
|
rs80358600
|
|
|
NM_000059.4(BRCA2):c.3517A>G (p.Ile1173Val)
|
rs431825308
|
|
|
NM_000059.4(BRCA2):c.3521G>T (p.Gly1174Val)
|
rs1555283272
|
|
|
NM_000059.4(BRCA2):c.3540G>C (p.Lys1180Asn)
|
rs864622363
|
|
|
NM_000059.4(BRCA2):c.3550G>A (p.Gly1184Ser)
|
rs1593899860
|
|
|
NM_000059.4(BRCA2):c.3551G>C (p.Gly1184Ala)
|
rs431825309
|
|
|
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile)
|
rs587782420
|
|
|
NM_000059.4(BRCA2):c.3566A>C (p.Lys1189Thr)
|
rs2072483773
|
|
|
NM_000059.4(BRCA2):c.3577G>A (p.Ala1193Thr)
|
rs1555283297
|
|
|
NM_000059.4(BRCA2):c.3586T>A (p.Leu1196Met)
|
rs1449762196
|
|
|
NM_000059.4(BRCA2):c.3593A>G (p.Asn1198Ser)
|
rs780927790
|
|
|
NM_000059.4(BRCA2):c.3598T>G (p.Cys1200Gly)
|
rs80358607
|
|
|
NM_000059.4(BRCA2):c.3610G>T (p.Ala1204Ser)
|
rs1555283309
|
|
|
NM_000059.4(BRCA2):c.3630T>G (p.Asp1210Glu)
|
rs786202991
|
|
|
NM_000059.4(BRCA2):c.3636T>G (p.Asn1212Lys)
|
rs1555283324
|
|
|
NM_000059.4(BRCA2):c.3638A>G (p.Glu1213Gly)
|
rs1566228880
|
|
|
NM_000059.4(BRCA2):c.3639A>T (p.Glu1213Asp)
|
rs1303026901
|
|
|
NM_000059.4(BRCA2):c.3643G>A (p.Gly1215Arg)
|
rs1366773950
|
|
|
NM_000059.4(BRCA2):c.3649A>T (p.Arg1217Trp)
|
rs1410046826
|
|
|
NM_000059.4(BRCA2):c.364A>G (p.Thr122Ala)
|
rs1218108009
|
|
|
NM_000059.4(BRCA2):c.3656T>C (p.Phe1219Ser)
|
rs1555283341
|
|
|
NM_000059.4(BRCA2):c.3662C>A (p.Ser1221Tyr)
|
rs397507313
|
|
|
NM_000059.4(BRCA2):c.3664G>T (p.Ala1222Ser)
|
rs1555283343
|
|
|
NM_000059.4(BRCA2):c.3677A>T (p.Lys1226Ile)
|
rs80358612
|
|
|
NM_000059.4(BRCA2):c.3679C>G (p.Leu1227Val)
|
rs1566228950
|
|
|
NM_000059.4(BRCA2):c.3689C>T (p.Ser1230Phe)
|
rs2137499058
|
|
|
NM_000059.4(BRCA2):c.3700C>A (p.Leu1234Met)
|
rs431825311
|
|
|
NM_000059.4(BRCA2):c.3704A>G (p.Gln1235Arg)
|
rs1060502424
|
|
|
NM_000059.4(BRCA2):c.3706A>G (p.Lys1236Glu)
|
rs1555283367
|
|
|
NM_000059.4(BRCA2):c.3713T>C (p.Val1238Ala)
|
rs1566229025
|
|
|
NM_000059.4(BRCA2):c.3719T>C (p.Leu1240Pro)
|
rs1593900306
|
|
|
NM_000059.4(BRCA2):c.3719_3720delinsAC (p.Leu1240His)
|
rs1593900310
|
|
|
NM_000059.4(BRCA2):c.3725G>A (p.Ser1242Asn)
|
rs1555283378
|
|
|
NM_000059.4(BRCA2):c.3742A>C (p.Ser1248Arg)
|
rs80358614
|
|
|
NM_000059.4(BRCA2):c.3749A>T (p.Glu1250Val)
|
rs56400215
|
|
|
NM_000059.4(BRCA2):c.3755C>A (p.Ser1252Tyr)
|
rs1361496246
|
|
|
NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp)
|
rs777028631
|
|
|
NM_000059.4(BRCA2):c.3767A>G (p.His1256Arg)
|
rs80358618
|
|
|
NM_000059.4(BRCA2):c.3768T>A (p.His1256Gln)
|
rs1566229121
|
|
|
NM_000059.4(BRCA2):c.3769C>G (p.Pro1257Ala)
|
rs1060502438
|
|
|
NM_000059.4(BRCA2):c.3797A>G (p.His1266Arg)
|
rs1555283399
|
|
|
NM_000059.4(BRCA2):c.37G>A (p.Glu13Lys)
|
rs80358622
|
|
|
NM_000059.4(BRCA2):c.3807_3808inv (p.Val1270Ile)
|
|
|
|
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)
|
rs80358625
|
|
|
NM_000059.4(BRCA2):c.3827A>G (p.Glu1276Gly)
|
rs1060502487
|
|
|
NM_000059.4(BRCA2):c.3836A>G (p.Asn1279Ser)
|
rs1060502384
|
|
|
NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly)
|
rs80358627
|
|
|
NM_000059.4(BRCA2):c.3845C>T (p.Thr1282Ile)
|
rs1555283423
|
|
|
NM_000059.4(BRCA2):c.3847G>A (p.Val1283Ile)
|
rs754974533
|
|
|
NM_000059.4(BRCA2):c.3852T>A (p.Ser1284Arg)
|
rs777895333
|
|
|
NM_000059.4(BRCA2):c.3854A>G (p.Glu1285Gly)
|
rs747103920
|
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.3859A>T (p.Asn1287Tyr)
|
rs1566229283
|
|
|
NM_000059.4(BRCA2):c.3863A>T (p.Asn1288Ile)
|
rs80358630
|
|
|
NM_000059.4(BRCA2):c.3865A>G (p.Lys1289Glu)
|
rs786201943
|
|
|
NM_000059.4(BRCA2):c.3869G>T (p.Cys1290Phe)
|
rs41293485
|
|
|
NM_000059.4(BRCA2):c.3877A>C (p.Ile1293Leu)
|
rs876659799
|
|
|
NM_000059.4(BRCA2):c.3885A>G (p.Gln1295=)
|
rs876659864
|
|
|
NM_000059.4(BRCA2):c.3893T>A (p.Ile1298Asn)
|
rs80358633
|
|
|
NM_000059.4(BRCA2):c.3893T>G (p.Ile1298Ser)
|
rs80358633
|
|
|
NM_000059.4(BRCA2):c.3894T>G (p.Ile1298Met)
|
rs41293487
|
|
|
NM_000059.4(BRCA2):c.3900G>A (p.Met1300Ile)
|
rs876659209
|
|
|
NM_000059.4(BRCA2):c.3902C>T (p.Thr1301Ile)
|
rs1455648880
|
|
|
NM_000059.4(BRCA2):c.3908G>A (p.Gly1303Asp)
|
rs587782645
|
|
|
NM_000059.4(BRCA2):c.3926T>G (p.Ile1309Ser)
|
rs1566229403
|
|
|
NM_000059.4(BRCA2):c.3929C>T (p.Thr1310Ile)
|
rs730881528
|
|
|
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser)
|
rs398122773
|
|
|
NM_000059.4(BRCA2):c.3958G>A (p.Glu1320Lys)
|
rs80358644
|
|
|
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr)
|
rs80358646
|
|
|
NM_000059.4(BRCA2):c.3965A>G (p.Asn1322Ser)
|
rs80358646
|
|
|
NM_000059.4(BRCA2):c.3970T>C (p.Tyr1324His)
|
rs879254067
|
|
|
NM_000059.4(BRCA2):c.3979G>T (p.Ala1327Ser)
|
rs1566229476
|
|
|
NM_000059.4(BRCA2):c.3982A>T (p.Ser1328Cys)
|
rs1566229480
|
|
|
NM_000059.4(BRCA2):c.3983G>C (p.Ser1328Thr)
|
rs753690365
|
|
|
NM_000059.4(BRCA2):c.3985A>G (p.Arg1329Gly)
|
rs587782718
|
|
|
NM_000059.4(BRCA2):c.3987A>T (p.Arg1329Ser)
|
rs786203361
|
|
|
NM_000059.4(BRCA2):c.3994C>G (p.His1332Asp)
|
rs863224588
|
|
|
NM_000059.4(BRCA2):c.3994C>T (p.His1332Tyr)
|
rs863224588
|
|
|
NM_000059.4(BRCA2):c.3995A>G (p.His1332Arg)
|
rs398122774
|
|
|
NM_000059.4(BRCA2):c.3999C>G (p.Asn1333Lys)
|
rs80358649
|
|
|
NM_000059.4(BRCA2):c.4024A>G (p.Ser1342Gly)
|
rs1060502476
|
|
|
NM_000059.4(BRCA2):c.4025G>A (p.Ser1342Asn)
|
rs1270552356
|
|
|
NM_000059.4(BRCA2):c.4031A>G (p.Asn1344Ser)
|
rs1593901214
|
|
|
NM_000059.4(BRCA2):c.4032T>G (p.Asn1344Lys)
|
rs1555283514
|
|
|
NM_000059.4(BRCA2):c.4043G>A (p.Cys1348Tyr)
|
rs1307056903
|
|
|
NM_000059.4(BRCA2):c.4046T>G (p.Ile1349Ser)
|
rs80358654
|
|
|
NM_000059.4(BRCA2):c.4068G>T (p.Leu1356Phe)
|
rs28897724
|
|
|
NM_000059.4(BRCA2):c.4070T>G (p.Leu1357Arg)
|
rs55796504
|
|
|
NM_000059.4(BRCA2):c.4075A>G (p.Thr1359Ala)
|
rs1566229623
|
|
|
NM_000059.4(BRCA2):c.4076C>T (p.Thr1359Ile)
|
rs878853578
|
|
|
NM_000059.4(BRCA2):c.4085A>G (p.His1362Arg)
|
rs1060502441
|
|
|
NM_000059.4(BRCA2):c.4088A>G (p.Asn1363Ser)
|
rs1165204072
|
|
|
NM_000059.4(BRCA2):c.4089C>A (p.Asn1363Lys)
|
rs80359787
|
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
|
NM_000059.4(BRCA2):c.4109G>C (p.Gly1370Ala)
|
rs587781406
|
|
|
NM_000059.4(BRCA2):c.4109G>T (p.Gly1370Val)
|
rs587781406
|
|
|
NM_000059.4(BRCA2):c.4113G>C (p.Gln1371His)
|
rs1555283563
|
|
|
NM_000059.4(BRCA2):c.4116T>G (p.Phe1372Leu)
|
rs786203478
|
|
|
NM_000059.4(BRCA2):c.4118T>C (p.Met1373Thr)
|
rs750581150
|
|
|
NM_000059.4(BRCA2):c.4120A>G (p.Lys1374Glu)
|
rs864622126
|
|
|
NM_000059.4(BRCA2):c.4123G>A (p.Glu1375Lys)
|
rs2137503120
|
|
|
NM_000059.4(BRCA2):c.4130A>G (p.Asn1377Ser)
|
rs749624669
|
|
|
NM_000059.4(BRCA2):c.4133C>T (p.Thr1378Ile)
|
rs945880747
|
|
|
NM_000059.4(BRCA2):c.4137G>T (p.Gln1379His)
|
rs768918982
|
|
|
NM_000059.4(BRCA2):c.4140T>G (p.Ile1380Met)
|
rs587781488
|
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
|
NM_000059.4(BRCA2):c.4145A>G (p.Glu1382Gly)
|
rs1566229775
|
|
|
NM_000059.4(BRCA2):c.4150T>A (p.Leu1384Met)
|
rs779408742
|
|
|
NM_000059.4(BRCA2):c.4156G>A (p.Asp1386Asn)
|
rs1555283600
|
|
|
NM_000059.4(BRCA2):c.4157A>G (p.Asp1386Gly)
|
rs431825316
|
|
|
NM_000059.4(BRCA2):c.4157A>T (p.Asp1386Val)
|
rs431825316
|
|
|
NM_000059.4(BRCA2):c.4165T>G (p.Phe1389Val)
|
rs1409088355
|
|
|
NM_000059.4(BRCA2):c.4166T>C (p.Phe1389Ser)
|
rs1566229818
|
|
|
NM_000059.4(BRCA2):c.4169T>G (p.Leu1390Trp)
|
rs1593901612
|
|
|
NM_000059.4(BRCA2):c.4171G>A (p.Glu1391Lys)
|
rs1593901620
|
|
|
NM_000059.4(BRCA2):c.4174G>A (p.Val1392Ile)
|
rs80358661
|
|
|
NM_000059.4(BRCA2):c.4178C>G (p.Ala1393Gly)
|
rs398122776
|
|
|
NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys)
|
rs28897726
|
|
|
NM_000059.4(BRCA2):c.4192G>A (p.Ala1398Thr)
|
rs876659902
|
|
|
NM_000059.4(BRCA2):c.4192G>C (p.Ala1398Pro)
|
rs876659902
|
|
|
NM_000059.4(BRCA2):c.4204A>C (p.Asn1402His)
|
rs786204062
|
|
|
NM_000059.4(BRCA2):c.4220A>G (p.Glu1407Gly)
|
rs1593901726
|
|
|
NM_000059.4(BRCA2):c.4237A>G (p.Lys1413Glu)
|
rs876661198
|
|
|
NM_000059.4(BRCA2):c.425+2T>C
|
rs876661045
|
|
|
NM_000059.4(BRCA2):c.4252A>G (p.Ile1418Val)
|
rs143667871
|
|
|
NM_000059.4(BRCA2):c.4253T>C (p.Ile1418Thr)
|
rs754119978
|
|
|
NM_000059.4(BRCA2):c.4259A>T (p.Asp1420Val)
|
rs2072500081
|
|
|
NM_000059.4(BRCA2):c.4266G>C (p.Glu1422Asp)
|
rs2072500238
|
|
|
NM_000059.4(BRCA2):c.4268C>T (p.Thr1423Ile)
|
rs1593901864
|
|
|
NM_000059.4(BRCA2):c.4274A>G (p.Asp1425Gly)
|
rs398122780
|
|
|
NM_000059.4(BRCA2):c.4277C>A (p.Thr1426Lys)
|
rs748591104
|
|
|
NM_000059.4(BRCA2):c.4287G>T (p.Gln1429His)
|
rs2072500788
|
|
|
NM_000059.4(BRCA2):c.4289C>T (p.Thr1430Ile)
|
rs876659247
|
|
|
NM_000059.4(BRCA2):c.4306A>G (p.Ile1436Val)
|
rs778282885
|
|
|
NM_000059.4(BRCA2):c.4307T>C (p.Ile1436Thr)
|
rs746472081
|
|
|
NM_000059.4(BRCA2):c.430GTT[1] (p.Val145del)
|
rs80359442
|
|
|
NM_000059.4(BRCA2):c.4312G>A (p.Val1438Ile)
|
rs786202874
|
|
|
NM_000059.4(BRCA2):c.4318A>G (p.Lys1440Glu)
|
rs80358668
|
|
|
NM_000059.4(BRCA2):c.4320A>C (p.Lys1440Asn)
|
rs769535925
|
|
|
NM_000059.4(BRCA2):c.4321G>A (p.Glu1441Lys)
|
rs876659758
|
|
|
NM_000059.4(BRCA2):c.4321G>C (p.Glu1441Gln)
|
rs876659758
|
|
|
NM_000059.4(BRCA2):c.4331A>C (p.Asn1444Thr)
|
rs587782661
|
|
|
NM_000059.4(BRCA2):c.4347C>A (p.Phe1449Leu)
|
rs1060502450
|
|
|
NM_000059.4(BRCA2):c.4353T>G (p.Asp1451Glu)
|
rs1566230114
|
|
|
NM_000059.4(BRCA2):c.4367A>C (p.Glu1456Ala)
|
rs878853584
|
|
|
NM_000059.4(BRCA2):c.4373A>G (p.His1458Arg)
|
rs587782185
|
|
|
NM_000059.4(BRCA2):c.4374T>A (p.His1458Gln)
|
rs1060504627
|
|
|
NM_000059.4(BRCA2):c.4378T>G (p.Phe1460Val)
|
rs1555283754
|
|
|
NM_000059.4(BRCA2):c.4382C>T (p.Ser1461Phe)
|
rs1593902185
|
|
|
NM_000059.4(BRCA2):c.4391C>G (p.Ser1464Cys)
|
rs587776464
|
|
|
NM_000059.4(BRCA2):c.4391C>T (p.Ser1464Phe)
|
rs587776464
|
|
|
NM_000059.4(BRCA2):c.4400A>C (p.His1467Pro)
|
rs1555283765
|
|
|
NM_000059.4(BRCA2):c.4400A>G (p.His1467Arg)
|
rs1555283765
|
|
|
NM_000059.4(BRCA2):c.4403C>G (p.Ser1468Cys)
|
rs1555283769
|
|
|
NM_000059.4(BRCA2):c.4410_4412delinsCAT (p.Arg1471Ile)
|
rs786202031
|
|
|
NM_000059.4(BRCA2):c.4415A>G (p.Lys1472Arg)
|
rs2072503705
|
|
|
NM_000059.4(BRCA2):c.4436G>A (p.Ser1479Asn)
|
rs80358678
|
|
|
NM_000059.4(BRCA2):c.443G>A (p.Cys148Tyr)
|
rs1204909245
|
|
|
NM_000059.4(BRCA2):c.4445A>G (p.Glu1482Gly)
|
rs775234705
|
|
|
NM_000059.4(BRCA2):c.4451A>G (p.Asp1484Gly)
|
rs1327059542
|
|
|
NM_000059.4(BRCA2):c.4453A>G (p.Ile1485Val)
|
rs2072504654
|
|
|
NM_000059.4(BRCA2):c.4453A>T (p.Ile1485Leu)
|
rs2072504654
|
|
|
NM_000059.4(BRCA2):c.4455A>G (p.Ile1485Met)
|
rs1555283791
|
|
|
NM_000059.4(BRCA2):c.4457T>G (p.Val1486Gly)
|
rs2072504759
|
|
|
NM_000059.4(BRCA2):c.4462C>T (p.His1488Tyr)
|
rs1555283795
|
|
|
NM_000059.4(BRCA2):c.4470A>G (p.Ile1490Met)
|
rs1593902461
|
|
|
NM_000059.4(BRCA2):c.4477G>C (p.Glu1493Gln)
|
rs398122782
|
|
|
NM_000059.4(BRCA2):c.4490T>C (p.Val1497Ala)
|
rs80358681
|
|
|
NM_000059.4(BRCA2):c.4504C>A (p.Gln1502Lys)
|
rs1060502425
|
|
|
NM_000059.4(BRCA2):c.4513A>G (p.Thr1505Ala)
|
rs80358682
|
|
|
NM_000059.4(BRCA2):c.4514C>T (p.Thr1505Ile)
|
rs1566230463
|
|
|
NM_000059.4(BRCA2):c.4522G>C (p.Gly1508Arg)
|
rs876661035
|
|
|
NM_000059.4(BRCA2):c.4535G>C (p.Arg1512Pro)
|
rs80358685
|
|
|
NM_000059.4(BRCA2):c.4537G>A (p.Asp1513Asn)
|
rs80358687
|
|
|
NM_000059.4(BRCA2):c.4539T>A (p.Asp1513Glu)
|
rs80358688
|
|
|
NM_000059.4(BRCA2):c.4543A>G (p.Lys1515Glu)
|
rs1555283834
|
|
|
NM_000059.4(BRCA2):c.4549A>G (p.Lys1517Glu)
|
rs730881532
|
|
|
NM_000059.4(BRCA2):c.4559C>G (p.Thr1520Ser)
|
rs747993489
|
|
|
NM_000059.4(BRCA2):c.4563_4565delinsGTC (p.Leu1522Ser)
|
rs2072507831
|
|
|
NM_000059.4(BRCA2):c.4567G>A (p.Gly1523Ser)
|
rs587781418
|
|
|
NM_000059.4(BRCA2):c.4574A>T (p.His1525Leu)
|
rs397507336
|
|
|
NM_000059.4(BRCA2):c.4584C>G (p.Ser1528Arg)
|
rs80359788
|
|
|
NM_000059.4(BRCA2):c.4586G>C (p.Gly1529Ala)
|
rs2072508418
|
|
|
NM_000059.4(BRCA2):c.4594G>T (p.Val1532Phe)
|
rs80358693
|
|
|
NM_000059.4(BRCA2):c.4601T>C (p.Ile1534Thr)
|
rs1555283869
|
|
|
NM_000059.4(BRCA2):c.4603G>A (p.Ala1535Thr)
|
rs2072508845
|
|
|
NM_000059.4(BRCA2):c.4611A>C (p.Glu1537Asp)
|
rs786202313
|
|
|
NM_000059.4(BRCA2):c.4613C>T (p.Ser1538Phe)
|
rs754643404
|
|
|
NM_000059.4(BRCA2):c.4620C>G (p.Asp1540Glu)
|
rs1555283875
|
|
|
NM_000059.4(BRCA2):c.4624G>A (p.Val1542Met)
|
rs28897729
|
|
|
NM_000059.4(BRCA2):c.4627A>G (p.Lys1543Glu)
|
rs786204239
|
|
|
NM_000059.4(BRCA2):c.4631A>G (p.Asn1544Ser)
|
rs587782753
|
|
|
NM_000059.4(BRCA2):c.4637T>C (p.Phe1546Ser)
|
rs397507337
|
|
|
NM_000059.4(BRCA2):c.4637T>G (p.Phe1546Cys)
|
rs397507337
|
|
|
NM_000059.4(BRCA2):c.4649A>G (p.Glu1550Gly)
|
rs876660887
|
|
|
NM_000059.4(BRCA2):c.4655G>T (p.Gly1552Val)
|
rs80358696
|
|
|
NM_000059.4(BRCA2):c.4669A>G (p.Thr1557Ala)
|
rs1566230921
|
|
|
NM_000059.4(BRCA2):c.4670C>T (p.Thr1557Ile)
|
rs80358698
|
|
|
NM_000059.4(BRCA2):c.4676T>C (p.Phe1559Ser)
|
rs1060502411
|
|
|
NM_000059.4(BRCA2):c.4676T>G (p.Phe1559Cys)
|
rs1060502411
|
|
|
NM_000059.4(BRCA2):c.4678A>G (p.Ser1560Gly)
|
rs1566230938
|
|
|
NM_000059.4(BRCA2):c.468T>G (p.Asp156Glu)
|
rs1197305103
|
|
|
NM_000059.4(BRCA2):c.4690G>T (p.Ala1564Ser)
|
rs1566230953
|
|
|
NM_000059.4(BRCA2):c.4696A>G (p.Thr1566Ala)
|
rs1555283904
|
|
|
NM_000059.4(BRCA2):c.4708A>G (p.Arg1570Gly)
|
rs2072511183
|
|
|
NM_000059.4(BRCA2):c.4713G>C (p.Glu1571Asp)
|
rs431825322
|
|
|
NM_000059.4(BRCA2):c.4717T>C (p.Cys1573Arg)
|
rs56054233
|
|
|
NM_000059.4(BRCA2):c.4723G>T (p.Asp1575Tyr)
|
rs587782013
|
|
|
NM_000059.4(BRCA2):c.4735G>A (p.Ala1579Thr)
|
rs1566231045
|
|
|
NM_000059.4(BRCA2):c.4736C>T (p.Ala1579Val)
|
rs1555283920
|
|
|
NM_000059.4(BRCA2):c.473C>T (p.Ser158Leu)
|
rs80358701
|
|
|
NM_000059.4(BRCA2):c.4741G>C (p.Glu1581Gln)
|
rs368952892
|
|
|
NM_000059.4(BRCA2):c.4748T>C (p.Ile1583Thr)
|
rs1566231072
|
|
|
NM_000059.4(BRCA2):c.475G>A (p.Val159Met)
|
rs80358702
|
|
|
NM_000059.4(BRCA2):c.476-11T>C
|
rs1555280973
|
|
|
NM_000059.4(BRCA2):c.476-8A>C
|
rs1311844326
|
|
|
NM_000059.4(BRCA2):c.4765C>G (p.Pro1589Ala)
|
rs876660366
|
|
|
NM_000059.4(BRCA2):c.4769A>G (p.Lys1590Arg)
|
rs2072512459
|
|
|
NM_000059.4(BRCA2):c.4771T>A (p.Cys1591Ser)
|
rs781130788
|
|
|
NM_000059.4(BRCA2):c.4782G>A (p.Met1594Ile)
|
rs876658930
|
|
|
NM_000059.4(BRCA2):c.4787A>G (p.Asn1596Ser)
|
rs2137510204
|
|
|
NM_000059.4(BRCA2):c.4790C>A (p.Ser1597Tyr)
|
rs876660146
|
|
|
NM_000059.4(BRCA2):c.4790C>T (p.Ser1597Phe)
|
rs876660146
|
|
|
NM_000059.4(BRCA2):c.4795AAT[1] (p.Asn1600del)
|
rs276174851
|
|
|
NM_000059.4(BRCA2):c.4802A>G (p.Asp1601Gly)
|
rs80358704
|
|
|
NM_000059.4(BRCA2):c.4808A>T (p.Asn1603Ile)
|
rs890665355
|
|
|
NM_000059.4(BRCA2):c.4820T>C (p.Ile1607Thr)
|
rs1566231183
|
|
|
NM_000059.4(BRCA2):c.4835C>T (p.Pro1612Leu)
|
rs764834875
|
|
|
NM_000059.4(BRCA2):c.4837C>T (p.Pro1613Ser)
|
rs2072513922
|
|
|
NM_000059.4(BRCA2):c.4848A>C (p.Leu1616Phe)
|
rs876659259
|
|
|
NM_000059.4(BRCA2):c.4849A>C (p.Ser1617Arg)
|
rs80358707
|
|
|
NM_000059.4(BRCA2):c.4850G>T (p.Ser1617Ile)
|
rs397507341
|
|
|
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser)
|
rs80358709
|
|
|
NM_000059.4(BRCA2):c.4858T>G (p.Leu1620Val)
|
rs528771743
|
|
|
NM_000059.4(BRCA2):c.4862G>A (p.Cys1621Tyr)
|
rs730881534
|
|
|
NM_000059.4(BRCA2):c.4868A>C (p.Gln1623Pro)
|
rs75381894
|
|
|
NM_000059.4(BRCA2):c.4882A>G (p.Lys1628Glu)
|
rs2072514905
|
|
|
NM_000059.4(BRCA2):c.4894A>C (p.Ser1632Arg)
|
rs80358712
|
|
|
NM_000059.4(BRCA2):c.4895G>C (p.Ser1632Thr)
|
rs1593903713
|
|
|
NM_000059.4(BRCA2):c.4897A>G (p.Ile1633Val)
|
rs80358713
|
|
|
NM_000059.4(BRCA2):c.4905G>T (p.Leu1635Phe)
|
rs397507342
|
|
|
NM_000059.4(BRCA2):c.4912A>G (p.Lys1638Glu)
|
rs886040553
|
|
|
NM_000059.4(BRCA2):c.4913A>G (p.Lys1638Arg)
|
rs771425987
|
|
|
NM_000059.4(BRCA2):c.4919A>C (p.His1640Pro)
|
rs373483754
|
|
|
NM_000059.4(BRCA2):c.4919A>G (p.His1640Arg)
|
rs373483754
|
|
|
NM_000059.4(BRCA2):c.4925A>C (p.Asn1642Thr)
|
rs80358718
|
|
|
NM_000059.4(BRCA2):c.4927G>T (p.Val1643Leu)
|
rs879254182
|
|
|
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)
|
rs28897731
|
|
|
NM_000059.4(BRCA2):c.4936G>A (p.Glu1646Lys)
|
|
|
|
NM_000059.4(BRCA2):c.4937A>G (p.Glu1646Gly)
|
rs762394148
|
|
|
NM_000059.4(BRCA2):c.4942G>A (p.Ala1648Thr)
|
rs786202248
|
|
|
NM_000059.4(BRCA2):c.4943C>T (p.Ala1648Val)
|
rs1449458592
|
|
|
NM_000059.4(BRCA2):c.4952C>G (p.Pro1651Arg)
|
rs565268514
|
|
|
NM_000059.4(BRCA2):c.4960T>G (p.Cys1654Gly)
|
rs876659012
|
|
|
NM_000059.4(BRCA2):c.4969A>G (p.Asn1657Asp)
|
rs587781599
|
|
|
NM_000059.4(BRCA2):c.4975T>G (p.Ser1659Ala)
|
rs431825324
|
|
|
NM_000059.4(BRCA2):c.4979C>T (p.Pro1660Leu)
|
rs397507345
|
|
|
NM_000059.4(BRCA2):c.4985C>T (p.Ser1662Leu)
|
rs886040559
|
|
|
NM_000059.4(BRCA2):c.4987G>A (p.Val1663Ile)
|
rs587781763
|
|
|
NM_000059.4(BRCA2):c.4988T>C (p.Val1663Ala)
|
rs1060502436
|
|
|
NM_000059.4(BRCA2):c.4993G>C (p.Glu1665Gln)
|
rs1485384156
|
|
|
NM_000059.4(BRCA2):c.4994A>G (p.Glu1665Gly)
|
rs777981245
|
|
|
NM_000059.4(BRCA2):c.5002G>C (p.Ala1668Pro)
|
rs587782182
|
|
|
NM_000059.4(BRCA2):c.5009C>A (p.Ala1670Asp)
|
rs1566231551
|
|
|
NM_000059.4(BRCA2):c.5009C>T (p.Ala1670Val)
|
rs1566231551
|
|
|
NM_000059.4(BRCA2):c.5014T>C (p.Tyr1672His)
|
rs781671762
|
|
|
NM_000059.4(BRCA2):c.5017A>C (p.Thr1673Pro)
|
rs746274489
|
|
|
NM_000059.4(BRCA2):c.5018C>T (p.Thr1673Ile)
|
rs376249157
|
|
|
NM_000059.4(BRCA2):c.5023T>C (p.Cys1675Arg)
|
rs786201420
|
|
|
NM_000059.4(BRCA2):c.5033A>C (p.Lys1678Thr)
|
rs28897733
|
|
|
NM_000059.4(BRCA2):c.5033A>G (p.Lys1678Arg)
|
rs28897733
|
|
|
NM_000059.4(BRCA2):c.5039C>A (p.Ser1680Tyr)
|
rs1555284041
|
|
|
NM_000059.4(BRCA2):c.5048A>T (p.Gln1683Leu)
|
rs587782738
|
|
|
NM_000059.4(BRCA2):c.5049G>C (p.Gln1683His)
|
rs773973434
|
|
|
NM_000059.4(BRCA2):c.5049_5053del (p.Gln1683fs)
|
rs2137513400
|
|
|
NM_000059.4(BRCA2):c.5051C>A (p.Thr1684Asn)
|
rs80358729
|
|
|
NM_000059.4(BRCA2):c.5054C>T (p.Ser1685Leu)
|
rs398122791
|
|
|
NM_000059.4(BRCA2):c.5084A>G (p.Glu1695Gly)
|
rs397507347
|
|
|
NM_000059.4(BRCA2):c.5084A>T (p.Glu1695Val)
|
rs397507347
|
|
|
NM_000059.4(BRCA2):c.5098G>A (p.Gly1700Ser)
|
rs80358733
|
|
|
NM_000059.4(BRCA2):c.5099G>T (p.Gly1700Val)
|
rs2072520161
|
|
|
NM_000059.4(BRCA2):c.5105C>T (p.Pro1702Leu)
|
rs1566231729
|
|
|
NM_000059.4(BRCA2):c.5116A>G (p.Asn1706Asp)
|
rs2072520671
|
|
|
NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr)
|
rs730881536
|
|
|
NM_000059.4(BRCA2):c.5125G>T (p.Asp1709Tyr)
|
rs398122792
|
|
|
NM_000059.4(BRCA2):c.5126A>C (p.Asp1709Ala)
|
rs786202836
|
|
|
NM_000059.4(BRCA2):c.5126A>G (p.Asp1709Gly)
|
rs786202836
|
|
|
NM_000059.4(BRCA2):c.5131G>A (p.Val1711Ile)
|
rs587782067
|
|
|
NM_000059.4(BRCA2):c.5141A>C (p.Tyr1714Ser)
|
rs1566231796
|
|
|
NM_000059.4(BRCA2):c.5146T>C (p.Tyr1716His)
|
rs1593904536
|
|
|
NM_000059.4(BRCA2):c.5149G>A (p.Glu1717Lys)
|
rs893978143
|
|
|
NM_000059.4(BRCA2):c.5155A>T (p.Asn1719Tyr)
|
rs398122794
|
|
|
NM_000059.4(BRCA2):c.515A>G (p.Lys172Arg)
|
rs431825327
|
|
|
NM_000059.4(BRCA2):c.5161A>G (p.Asn1721Asp)
|
rs1443102794
|
|
|
NM_000059.4(BRCA2):c.5165G>A (p.Ser1722Asn)
|
rs773707172
|
|
|
NM_000059.4(BRCA2):c.5185A>G (p.Lys1729Glu)
|
rs2072522644
|
|
|
NM_000059.4(BRCA2):c.5186A>G (p.Lys1729Arg)
|
rs772860507
|
|
|
NM_000059.4(BRCA2):c.5189A>G (p.Asn1730Ser)
|
rs766080044
|
|
|
NM_000059.4(BRCA2):c.5200G>C (p.Glu1734Gln)
|
rs786202543
|
|
|
NM_000059.4(BRCA2):c.5202A>C (p.Glu1734Asp)
|
rs1243093278
|
|
|
NM_000059.4(BRCA2):c.5209G>T (p.Asp1737Tyr)
|
rs1555284106
|
|
|
NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val)
|
rs587778120
|
|
|
NM_000059.4(BRCA2):c.5218_5223del (p.Leu1740_Ser1741del)
|
rs397507775
|
|
|
NM_000059.4(BRCA2):c.5221A>G (p.Ser1741Gly)
|
rs1566232001
|
|
|
NM_000059.4(BRCA2):c.5226C>G (p.Asn1742Lys)
|
rs1057522266
|
|
|
NM_000059.4(BRCA2):c.5230A>G (p.Ser1744Gly)
|
rs587778121
|
|
|
NM_000059.4(BRCA2):c.5233A>G (p.Met1745Val)
|
rs786202206
|
|
|
NM_000059.4(BRCA2):c.5240A>T (p.Asn1747Ile)
|
rs1555284128
|
|
|
NM_000059.4(BRCA2):c.5242A>G (p.Ser1748Gly)
|
rs2072524829
|
|
|
NM_000059.4(BRCA2):c.5244C>A (p.Ser1748Arg)
|
rs398122528
|
|
|
NM_000059.4(BRCA2):c.5258C>T (p.Ser1753Phe)
|
rs1566232073
|
|
|
NM_000059.4(BRCA2):c.5260G>A (p.Asp1754Asn)
|
rs771571938
|
|
|
NM_000059.4(BRCA2):c.5261A>G (p.Asp1754Gly)
|
rs772772727
|
|
|
NM_000059.4(BRCA2):c.5266G>C (p.Val1756Leu)
|
rs876659138
|
|
|
NM_000059.4(BRCA2):c.5269T>C (p.Tyr1757His)
|
rs2072525454
|
|
|
NM_000059.4(BRCA2):c.5281G>C (p.Gly1761Arg)
|
rs886038122
|
|
|
NM_000059.4(BRCA2):c.5285A>G (p.Tyr1762Cys)
|
rs80358753
|
|
|
NM_000059.4(BRCA2):c.5293A>G (p.Lys1765Glu)
|
rs879255458
|
|
|
NM_000059.4(BRCA2):c.52C>T (p.Arg18Cys)
|
rs786201560
|
|
|
NM_000059.4(BRCA2):c.5302C>T (p.Leu1768Phe)
|
rs2137516131
|
|
|
NM_000059.4(BRCA2):c.5312G>C (p.Gly1771Ala)
|
rs80358755
|
|
|
NM_000059.4(BRCA2):c.5312G>T (p.Gly1771Val)
|
rs80358755
|
|
|
NM_000059.4(BRCA2):c.5317G>A (p.Glu1773Lys)
|
rs1566232201
|
|
|
NM_000059.4(BRCA2):c.5317G>C (p.Glu1773Gln)
|
rs1566232201
|
|
|
NM_000059.4(BRCA2):c.5320C>T (p.Pro1774Ser)
|
rs2137516298
|
|
|
NM_000059.4(BRCA2):c.5327T>G (p.Leu1776Trp)
|
rs1566232213
|
|
|
NM_000059.4(BRCA2):c.5345A>C (p.Gln1782Pro)
|
rs758959174
|
|
|
NM_000059.4(BRCA2):c.5345A>G (p.Gln1782Arg)
|
rs758959174
|
|
|
NM_000059.4(BRCA2):c.5351A>C (p.Asn1784Thr)
|
rs2072527448
|
|
|
NM_000059.4(BRCA2):c.5353A>G (p.Thr1785Ala)
|
rs786202394
|
|
|
NM_000059.4(BRCA2):c.5354C>T (p.Thr1785Ile)
|
rs2137516710
|
|
|
NM_000059.4(BRCA2):c.5365A>G (p.Lys1789Glu)
|
rs587782240
|
|
|
NM_000059.4(BRCA2):c.5377A>C (p.Asn1793His)
|
rs1593905298
|
|
|
NM_000059.4(BRCA2):c.5392A>G (p.Asn1798Asp)
|
rs1555284208
|
|
|
NM_000059.4(BRCA2):c.5393A>G (p.Asn1798Ser)
|
rs1566232376
|
|
|
NM_000059.4(BRCA2):c.5406A>T (p.Gln1802His)
|
rs139302211
|
|
|
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala)
|
rs370252983
|
|
|
NM_000059.4(BRCA2):c.5422A>G (p.Ile1808Val)
|
rs2137517397
|
|
|
NM_000059.4(BRCA2):c.5425T>G (p.Cys1809Gly)
|
rs2072529086
|
|
|
NM_000059.4(BRCA2):c.5431G>A (p.Glu1811Lys)
|
rs1566232430
|
|
|
NM_000059.4(BRCA2):c.5432A>C (p.Glu1811Ala)
|
rs1555284221
|
|
|
NM_000059.4(BRCA2):c.5437C>A (p.Leu1813Ile)
|
rs1555284228
|
|
|
NM_000059.4(BRCA2):c.5444C>T (p.Thr1815Ile)
|
rs587782031
|
|
|
NM_000059.4(BRCA2):c.5448C>A (p.Ser1816Arg)
|
rs1566232467
|
|
|
NM_000059.4(BRCA2):c.5450C>T (p.Ser1817Phe)
|
rs759741090
|
|
|
NM_000059.4(BRCA2):c.5461A>G (p.Lys1821Glu)
|
rs1566232503
|
|
|
NM_000059.4(BRCA2):c.5465A>T (p.Asn1822Ile)
|
rs587781580
|
|
|
NM_000059.4(BRCA2):c.5470A>C (p.Asn1824His)
|
rs2137517808
|
|
|
NM_000059.4(BRCA2):c.5495C>G (p.Ser1832Cys)
|
rs138489917
|
|
|
NM_000059.4(BRCA2):c.5518G>C (p.Gly1840Arg)
|
rs398122533
|
|
|
NM_000059.4(BRCA2):c.5524C>A (p.Pro1842Thr)
|
rs2072531201
|
|
|
NM_000059.4(BRCA2):c.5524C>T (p.Pro1842Ser)
|
rs2072531201
|
|
|
NM_000059.4(BRCA2):c.5527G>C (p.Ala1843Pro)
|
rs863224594
|
|
|
NM_000059.4(BRCA2):c.5534G>A (p.Arg1845Lys)
|
rs1593905700
|
|
|
NM_000059.4(BRCA2):c.5540C>G (p.Ala1847Gly)
|
rs1566232630
|
|
|
NM_000059.4(BRCA2):c.5546G>C (p.Gly1849Ala)
|
rs764527357
|
|
|
NM_000059.4(BRCA2):c.5553C>T (p.Ile1851=)
|
rs573514896
|
|
|
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)
|
rs80358777
|
|
|
NM_000059.4(BRCA2):c.5557_5558delinsCT (p.Cys1853Leu)
|
rs587782694
|
|
|
NM_000059.4(BRCA2):c.5575A>G (p.Ile1859Val)
|
rs397507354
|
|
|
NM_000059.4(BRCA2):c.5578A>C (p.Lys1860Gln)
|
rs431825332
|
|
|
NM_000059.4(BRCA2):c.5578A>G (p.Lys1860Glu)
|
rs431825332
|
|
|
NM_000059.4(BRCA2):c.5581A>G (p.Lys1861Glu)
|
rs1555284282
|
|
|
NM_000059.4(BRCA2):c.5593A>G (p.Ile1865Val)
|
rs587781455
|
|
|
NM_000059.4(BRCA2):c.5595A>G (p.Ile1865Met)
|
rs2072532958
|
|
|
NM_000059.4(BRCA2):c.5599A>C (p.Thr1867Pro)
|
rs2072533024
|
|
|
NM_000059.4(BRCA2):c.5602G>A (p.Asp1868Asn)
|
rs80358781
|
|
|
NM_000059.4(BRCA2):c.5606G>A (p.Ser1869Asn)
|
rs1555284296
|
|
|
NM_000059.4(BRCA2):c.5609T>A (p.Phe1870Tyr)
|
rs1135401908
|
|
|
NM_000059.4(BRCA2):c.5624A>G (p.Lys1875Arg)
|
rs587782583
|
|
|
NM_000059.4(BRCA2):c.5636A>G (p.Glu1879Gly)
|
rs398122536
|
|
|
NM_000059.4(BRCA2):c.5650A>G (p.Ile1884Val)
|
rs398122538
|
|
|
NM_000059.4(BRCA2):c.5650A>T (p.Ile1884Phe)
|
rs398122538
|
|
|
NM_000059.4(BRCA2):c.5651T>C (p.Ile1884Thr)
|
rs80358788
|
|
|
NM_000059.4(BRCA2):c.5654G>A (p.Cys1885Tyr)
|
rs876660854
|
|
|
NM_000059.4(BRCA2):c.5659A>G (p.Thr1887Ala)
|
rs786202618
|
|
|
NM_000059.4(BRCA2):c.5660C>G (p.Thr1887Arg)
|
rs397507795
|
|
|
NM_000059.4(BRCA2):c.5668A>G (p.Met1890Val)
|
rs80358793
|
|
|
NM_000059.4(BRCA2):c.5669T>C (p.Met1890Thr)
|
rs80358794
|
|
|
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)
|
rs397507359
|
|
|
NM_000059.4(BRCA2):c.5671G>C (p.Ala1891Pro)
|
rs587782644
|
|
|
NM_000059.4(BRCA2):c.5675G>A (p.Gly1892Asp)
|
rs786204067
|
|
|
NM_000059.4(BRCA2):c.5687C>A (p.Ala1896Glu)
|
rs730881539
|
|
|
NM_000059.4(BRCA2):c.5694T>G (p.Asp1898Glu)
|
rs876658756
|
|
|
NM_000059.4(BRCA2):c.5695G>A (p.Asp1899Asn)
|
rs371189402
|
|
|
NM_000059.4(BRCA2):c.5704G>T (p.Asp1902Tyr)
|
rs4987048
|
|
|
NM_000059.4(BRCA2):c.5711T>A (p.Leu1904His)
|
rs876658494
|
|
|
NM_000059.4(BRCA2):c.5714A>C (p.His1905Pro)
|
rs80358796
|
|
|
NM_000059.4(BRCA2):c.5714A>T (p.His1905Leu)
|
rs80358796
|
|
|
NM_000059.4(BRCA2):c.5716A>G (p.Asn1906Asp)
|
rs2072536623
|
|
|
NM_000059.4(BRCA2):c.5717A>G (p.Asn1906Ser)
|
rs1555284372
|
|
|
NM_000059.4(BRCA2):c.5725G>A (p.Asp1909Asn)
|
rs764827027
|
|
|
NM_000059.4(BRCA2):c.5728_5730del (p.Asn1910del)
|
rs28897736
|
|
|
NM_000059.4(BRCA2):c.5729A>G (p.Asn1910Ser)
|
rs276174863
|
|
|
NM_000059.4(BRCA2):c.5733T>G (p.Asp1911Glu)
|
rs367823201
|
|
|
NM_000059.4(BRCA2):c.5738G>A (p.Cys1913Tyr)
|
rs1060502460
|
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
|
NM_000059.4(BRCA2):c.5757G>T (p.Lys1919Asn)
|
rs1566233164
|
|
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
rs80358805
|
|
|
NM_000059.4(BRCA2):c.5763T>G (p.Phe1921Leu)
|
rs730881540
|
|
|
NM_000059.4(BRCA2):c.5769C>A (p.Asp1923Glu)
|
rs863224309
|
|
|
NM_000059.4(BRCA2):c.5773C>G (p.Gln1925Glu)
|
rs80358806
|
|
|
NM_000059.4(BRCA2):c.5777G>A (p.Ser1926Asn)
|
rs869320795
|
|
|
NM_000059.4(BRCA2):c.5786T>C (p.Ile1929Thr)
|
rs1555284396
|
|
|
NM_000059.4(BRCA2):c.5788T>G (p.Leu1930Val)
|
rs2072538460
|
|
|
NM_000059.4(BRCA2):c.5792A>G (p.Gln1931Arg)
|
rs786202537
|
|
|
NM_000059.4(BRCA2):c.5795A>T (p.His1932Leu)
|
rs1566233236
|
|
|
NM_000059.4(BRCA2):c.5804A>G (p.Asn1935Ser)
|
rs80358808
|
|
|
NM_000059.4(BRCA2):c.5806A>G (p.Met1936Val)
|
rs1566233265
|
|
|
NM_000059.4(BRCA2):c.5807T>C (p.Met1936Thr)
|
rs1376128381
|
|
|
NM_000059.4(BRCA2):c.5839C>G (p.Pro1947Ala)
|
rs80358812
|
|
|
NM_000059.4(BRCA2):c.5846A>G (p.Asp1949Gly)
|
rs431825336
|
|
|
NM_000059.4(BRCA2):c.5855T>G (p.Leu1952Trp)
|
rs375064902
|
|
|
NM_000059.4(BRCA2):c.5861C>T (p.Thr1954Ile)
|
rs1060502413
|
|
|
NM_000059.4(BRCA2):c.5864C>T (p.Ser1955Leu)
|
rs80358815
|
|
|
NM_000059.4(BRCA2):c.5867A>G (p.Asp1956Gly)
|
rs1309562690
|
|
|
NM_000059.4(BRCA2):c.5867A>T (p.Asp1956Val)
|
rs1309562690
|
|
|
NM_000059.4(BRCA2):c.5878T>G (p.Cys1960Gly)
|
rs1566233377
|
|
|
NM_000059.4(BRCA2):c.5897A>T (p.His1966Leu)
|
rs80358823
|
|
|
NM_000059.4(BRCA2):c.5900A>G (p.Lys1967Arg)
|
rs959089047
|
|
|
NM_000059.4(BRCA2):c.5902T>C (p.Ser1968Pro)
|
rs1555284455
|
|
|
NM_000059.4(BRCA2):c.5911T>C (p.Ser1971Pro)
|
rs1566233504
|
|
|
NM_000059.4(BRCA2):c.5917A>C (p.Asn1973His)
|
rs1555284460
|
|
|
NM_000059.4(BRCA2):c.5924G>A (p.Cys1975Tyr)
|
rs767378196
|
|
|
NM_000059.4(BRCA2):c.5924G>C (p.Cys1975Ser)
|
rs767378196
|
|
|
NM_000059.4(BRCA2):c.5929A>G (p.Ile1977Val)
|
rs1566233568
|
|
|
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro)
|
rs55877890
|
|
|
NM_000059.4(BRCA2):c.5939C>T (p.Thr1980Ile)
|
rs80358827
|
|
|
NM_000059.4(BRCA2):c.5942C>G (p.Ala1981Gly)
|
rs2072542244
|
|
|
NM_000059.4(BRCA2):c.5945G>C (p.Ser1982Thr)
|
rs28897738
|
|
|
NM_000059.4(BRCA2):c.5954C>G (p.Ser1985Cys)
|
rs1272409475
|
|
|
NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His)
|
rs387907575
|
|
|
NM_000059.4(BRCA2):c.5968G>A (p.Asp1990Asn)
|
rs1566233648
|
|
|
NM_000059.4(BRCA2):c.5969A>G (p.Asp1990Gly)
|
rs148618542
|
|
|
NM_000059.4(BRCA2):c.5981A>G (p.Gln1994Arg)
|
rs80358832
|
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
|
NM_000059.4(BRCA2):c.5986_5987delinsAT (p.Ala1996Ile)
|
rs1593907140
|
|
|
NM_000059.4(BRCA2):c.5987C>G (p.Ala1996Gly)
|
rs80358834
|
|
|
NM_000059.4(BRCA2):c.5990G>A (p.Arg1997Lys)
|
rs1064793478
|
|
|
NM_000059.4(BRCA2):c.5993A>G (p.Gln1998Arg)
|
rs80358835
|
|
|
NM_000059.4(BRCA2):c.59A>G (p.Asn20Ser)
|
rs398122544
|
|
|
NM_000059.4(BRCA2):c.5C>T (p.Pro2Leu)
|
rs80358836
|
|
|
NM_000059.4(BRCA2):c.6005A>C (p.Glu2002Ala)
|
rs2072543965
|
|
|
NM_000059.4(BRCA2):c.6007A>G (p.Ile2003Val)
|
rs1593907199
|
|
|
NM_000059.4(BRCA2):c.6020C>A (p.Thr2007Asn)
|
rs397507363
|
|
|
NM_000059.4(BRCA2):c.6026A>G (p.Gln2009Arg)
|
rs1285547765
|
|
|
NM_000059.4(BRCA2):c.6035C>A (p.Ser2012Tyr)
|
rs2072544727
|
|
|
NM_000059.4(BRCA2):c.6044T>C (p.Leu2015Ser)
|
rs587776468
|
|
|
NM_000059.4(BRCA2):c.6054T>A (p.Ser2018Arg)
|
rs540799830
|
|
|
NM_000059.4(BRCA2):c.6057C>A (p.Asn2019Lys)
|
rs147961615
|
|
|
NM_000059.4(BRCA2):c.6062A>G (p.His2021Arg)
|
rs780621780
|
|
|
NM_000059.4(BRCA2):c.6071A>G (p.Gln2024Arg)
|
rs80358845
|
|
|
NM_000059.4(BRCA2):c.6076A>G (p.Thr2026Ala)
|
rs587782249
|
|
|
NM_000059.4(BRCA2):c.6076A>T (p.Thr2026Ser)
|
rs587782249
|
|
|
NM_000059.4(BRCA2):c.6080G>A (p.Arg2027Lys)
|
rs431825337
|
|
|
NM_000059.4(BRCA2):c.6092C>A (p.Thr2031Asn)
|
rs876658761
|
|
|
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val)
|
rs786202701
|
|
|
NM_000059.4(BRCA2):c.6098T>C (p.Ile2033Thr)
|
rs398122548
|
|
|
NM_000059.4(BRCA2):c.6099A>G (p.Ile2033Met)
|
rs80358848
|
|
|
NM_000059.4(BRCA2):c.6106C>G (p.Pro2036Ala)
|
rs587782740
|
|
|
NM_000059.4(BRCA2):c.6106C>T (p.Pro2036Ser)
|
rs587782740
|
|
|
NM_000059.4(BRCA2):c.6111A>T (p.Glu2037Asp)
|
rs864622740
|
|
|
NM_000059.4(BRCA2):c.6112C>A (p.His2038Asn)
|
rs587778123
|
|
|
NM_000059.4(BRCA2):c.6112C>T (p.His2038Tyr)
|
rs587778123
|
|
|
NM_000059.4(BRCA2):c.6118A>T (p.Ile2040Leu)
|
rs80358850
|
|
|
NM_000059.4(BRCA2):c.6121T>A (p.Ser2041Thr)
|
rs1160083526
|
|
|
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)
|
rs80358852
|
|
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
rs56191579
|
|
|
NM_000059.4(BRCA2):c.6140A>G (p.Tyr2047Cys)
|
rs730881542
|
|
|
NM_000059.4(BRCA2):c.6143A>C (p.Asn2048Thr)
|
rs80358853
|
|
|
NM_000059.4(BRCA2):c.6144T>G (p.Asn2048Lys)
|
rs587782775
|
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
|
NM_000059.4(BRCA2):c.6152A>C (p.Asn2051Thr)
|
rs398122549
|
|
|
NM_000059.4(BRCA2):c.6152A>G (p.Asn2051Ser)
|
rs398122549
|
|
|
NM_000059.4(BRCA2):c.6154T>G (p.Ser2052Ala)
|
rs1566234040
|
|
|
NM_000059.4(BRCA2):c.6160G>A (p.Ala2054Thr)
|
rs80358855
|
|
|
NM_000059.4(BRCA2):c.6170G>A (p.Gly2057Glu)
|
rs876660308
|
|
|
NM_000059.4(BRCA2):c.6181G>A (p.Ala2061Thr)
|
rs1555284585
|
|
|
NM_000059.4(BRCA2):c.6190A>G (p.Lys2064Glu)
|
rs1593907793
|
|
|
NM_000059.4(BRCA2):c.6195A>C (p.Gln2065His)
|
rs876658875
|
|
|
NM_000059.4(BRCA2):c.6199T>A (p.Ser2067Thr)
|
rs143806921
|
|
|
NM_000059.4(BRCA2):c.6202A>T (p.Ile2068Phe)
|
rs755523944
|
|
|
NM_000059.4(BRCA2):c.6210A>T (p.Glu2070Asp)
|
rs1555284596
|
|
|
NM_000059.4(BRCA2):c.6212G>A (p.Ser2071Asn)
|
rs80358861
|
|
|
NM_000059.4(BRCA2):c.6220C>T (p.His2074Tyr)
|
rs34309943
|
|
|
NM_000059.4(BRCA2):c.6222C>G (p.His2074Gln)
|
rs1555284601
|
|
|
NM_000059.4(BRCA2):c.6242A>C (p.Glu2081Ala)
|
rs1593907983
|
|
|
NM_000059.4(BRCA2):c.6253T>G (p.Leu2085Val)
|
rs761996223
|
|
|
NM_000059.4(BRCA2):c.6263C>G (p.Thr2088Ser)
|
rs767567428
|
|
|
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg)
|
rs397507366
|
|
|
NM_000059.4(BRCA2):c.6271A>G (p.Ser2091Gly)
|
rs398122550
|
|
|
NM_000059.4(BRCA2):c.6278A>C (p.His2093Pro)
|
rs1218113889
|
|
|
NM_000059.4(BRCA2):c.627C>A (p.Leu209=)
|
rs28897704
|
|
|
NM_000059.4(BRCA2):c.6281A>C (p.Tyr2094Ser)
|
rs397507838
|
|
|
NM_000059.4(BRCA2):c.6293C>G (p.Ser2098Cys)
|
rs80358867
|
|
|
NM_000059.4(BRCA2):c.6296G>C (p.Arg2099Thr)
|
rs80358868
|
|
|
NM_000059.4(BRCA2):c.6304G>T (p.Val2102Leu)
|
rs80358869
|
|
|
NM_000059.4(BRCA2):c.631+13A>G
|
rs1555281112
|
|
|
NM_000059.4(BRCA2):c.6315A>G (p.Ile2105Met)
|
rs398122552
|
|
|
NM_000059.4(BRCA2):c.6316C>G (p.Leu2106Val)
|
rs876660892
|
|
|
NM_000059.4(BRCA2):c.6316C>T (p.Leu2106Phe)
|
rs876660892
|
|
|
NM_000059.4(BRCA2):c.6319C>A (p.Pro2107Thr)
|
rs1593908231
|
|
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
rs80358871
|
|
|
NM_000059.4(BRCA2):c.632-2A>G
|
rs397507842
|
|
|
NM_000059.4(BRCA2):c.632-3C>A
|
rs568027879
|
|
|
NM_000059.4(BRCA2):c.632-3C>T
|
rs568027879
|
|
|
NM_000059.4(BRCA2):c.6323G>C (p.Arg2108Pro)
|
rs35029074
|
|
|
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu)
|
rs35029074
|
|
|
NM_000059.4(BRCA2):c.6329A>C (p.Asp2110Ala)
|
rs80358873
|
|
|
NM_000059.4(BRCA2):c.6329A>T (p.Asp2110Val)
|
rs80358873
|
|
|
NM_000059.4(BRCA2):c.6332A>G (p.Lys2111Arg)
|
rs2137526511
|
|
|
NM_000059.4(BRCA2):c.6337A>G (p.Asn2113Asp)
|
rs1555284644
|
|
|
NM_000059.4(BRCA2):c.6340C>G (p.Pro2114Ala)
|
rs2072552879
|
|
|
NM_000059.4(BRCA2):c.6344A>G (p.Glu2115Gly)
|
rs397507370
|
|
|
NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)
|
rs55953736
|
|
|
NM_000059.4(BRCA2):c.6350G>C (p.Cys2117Ser)
|
rs2072553110
|
|
|
NM_000059.4(BRCA2):c.6365T>A (p.Met2122Lys)
|
rs1566234419
|
|
|
NM_000059.4(BRCA2):c.6369A>C (p.Glu2123Asp)
|
rs1064793571
|
|
|
NM_000059.4(BRCA2):c.6374C>G (p.Thr2125Ser)
|
rs776937022
|
|
|
NM_000059.4(BRCA2):c.6376T>A (p.Cys2126Ser)
|
rs1566234451
|
|
|
NM_000059.4(BRCA2):c.6379A>C (p.Ser2127Arg)
|
rs876660938
|
|
|
NM_000059.4(BRCA2):c.6382A>G (p.Lys2128Glu)
|
rs80358875
|
|
|
NM_000059.4(BRCA2):c.6389T>G (p.Phe2130Cys)
|
rs2072554002
|
|
|
NM_000059.4(BRCA2):c.6393A>T (p.Lys2131Asn)
|
rs765669556
|
|
|
NM_000059.4(BRCA2):c.6397T>C (p.Ser2133Pro)
|
rs1566234482
|
|
|
NM_000059.4(BRCA2):c.63A>G (p.Lys21=)
|
rs1280004443
|
|
|
NM_000059.4(BRCA2):c.6400A>C (p.Asn2134His)
|
rs1434431480
|
|
|
NM_000059.4(BRCA2):c.6400A>G (p.Asn2134Asp)
|
rs1434431480
|
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
|
NM_000059.4(BRCA2):c.6406T>A (p.Leu2136Ile)
|
rs1231977477
|
|
|
NM_000059.4(BRCA2):c.6411T>A (p.Asn2137Lys)
|
rs878853597
|
|
|
NM_000059.4(BRCA2):c.6419G>A (p.Gly2140Asp)
|
rs876659898
|
|
|
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del)
|
rs80359588
|
|
|
NM_000059.4(BRCA2):c.6422G>T (p.Gly2141Val)
|
rs756885337
|
|
|
NM_000059.4(BRCA2):c.6424T>C (p.Ser2142Pro)
|
rs587782624
|
|
|
NM_000059.4(BRCA2):c.6436A>C (p.Asn2146His)
|
rs1566234599
|
|
|
NM_000059.4(BRCA2):c.6437A>G (p.Asn2146Ser)
|
rs768512381
|
|
|
NM_000059.4(BRCA2):c.6438T>G (p.Asn2146Lys)
|
rs1555284698
|
|
|
NM_000059.4(BRCA2):c.6439C>T (p.His2147Tyr)
|
rs587781476
|
|
|
NM_000059.4(BRCA2):c.6443C>T (p.Ser2148Phe)
|
rs80358880
|
|
|
NM_000059.4(BRCA2):c.6445A>C (p.Ile2149Leu)
|
rs786202013
|
|
|
NM_000059.4(BRCA2):c.6448A>G (p.Lys2150Glu)
|
rs1403648108
|
|
|
NM_000059.4(BRCA2):c.6452T>C (p.Val2151Ala)
|
rs1064793743
|
|
|
NM_000059.4(BRCA2):c.6452T>G (p.Val2151Gly)
|
rs1064793743
|
|
|
NM_000059.4(BRCA2):c.6455C>T (p.Ser2152Phe)
|
rs80358881
|
|
|
NM_000059.4(BRCA2):c.6460T>C (p.Tyr2154His)
|
rs2548533379
|
|
|
NM_000059.4(BRCA2):c.6463C>G (p.Leu2155Val)
|
rs775035051
|
|
|
NM_000059.4(BRCA2):c.6464T>G (p.Leu2155Arg)
|
rs2137527830
|
|
|
NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe)
|
rs765575482
|
|
|
NM_000059.4(BRCA2):c.6469C>G (p.Gln2157Glu)
|
rs397507859
|
|
|
NM_000059.4(BRCA2):c.6472T>C (p.Phe2158Leu)
|
rs1566234702
|
|
|
NM_000059.4(BRCA2):c.6476A>G (p.Gln2159Arg)
|
rs763486267
|
|
|
NM_000059.4(BRCA2):c.6479A>G (p.Gln2160Arg)
|
rs587781610
|
|
|
NM_000059.4(BRCA2):c.6481G>C (p.Asp2161His)
|
rs1555284714
|
|
|
NM_000059.4(BRCA2):c.6482A>G (p.Asp2161Gly)
|
rs786201744
|
|
|
NM_000059.4(BRCA2):c.6488A>G (p.Gln2163Arg)
|
rs1555284720
|
|
|
NM_000059.4(BRCA2):c.6495G>C (p.Leu2165Phe)
|
rs1555284722
|
|
|
NM_000059.4(BRCA2):c.6496G>C (p.Val2166Leu)
|
rs750084851
|
|
|
NM_000059.4(BRCA2):c.6505A>T (p.Thr2169Ser)
|
rs1471965041
|
|
|
NM_000059.4(BRCA2):c.6506C>T (p.Thr2169Ile)
|
rs1555284726
|
|
|
NM_000059.4(BRCA2):c.6508A>G (p.Lys2170Glu)
|
rs2072557860
|
|
|
NM_000059.4(BRCA2):c.6509A>G (p.Lys2170Arg)
|
rs1252272917
|
|
|
NM_000059.4(BRCA2):c.6511_6513delinsATC (p.Val2171Ile)
|
rs2072557951
|
|
|
NM_000059.4(BRCA2):c.6513_6514delinsCG (p.Ser2172Ala)
|
rs1064794089
|
|
|
NM_000059.4(BRCA2):c.6517C>T (p.Leu2173Phe)
|
rs1566234827
|
|
|
NM_000059.4(BRCA2):c.6521T>C (p.Val2174Ala)
|
rs876659448
|
|
|
NM_000059.4(BRCA2):c.6529A>T (p.Ile2177Phe)
|
rs1593908997
|
|
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
|
NM_000059.4(BRCA2):c.6532C>A (p.His2178Asn)
|
rs80358885
|
|
|
NM_000059.4(BRCA2):c.6535_6536insA (p.Val2179fs)
|
rs80359601
|
|
|
NM_000059.4(BRCA2):c.6538T>G (p.Leu2180Val)
|
rs730881544
|
|
|
NM_000059.4(BRCA2):c.6553G>C (p.Ala2185Pro)
|
rs746070652
|
|
|
NM_000059.4(BRCA2):c.6553G>T (p.Ala2185Ser)
|
rs746070652
|
|
|
NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val)
|
rs980859921
|
|
|
NM_000059.4(BRCA2):c.6567C>A (p.Asn2189Lys)
|
rs397507374
|
|
|
NM_000059.4(BRCA2):c.6567C>G (p.Asn2189Lys)
|
rs397507374
|
|
|
NM_000059.4(BRCA2):c.6568G>A (p.Val2190Ile)
|
rs80358888
|
|
|
NM_000059.4(BRCA2):c.6574A>G (p.Met2192Val)
|
rs926784722
|
|
|
NM_000059.4(BRCA2):c.6574A>T (p.Met2192Leu)
|
rs926784722
|
|
|
NM_000059.4(BRCA2):c.6581T>C (p.Ile2194Thr)
|
rs876660049
|
|
|
NM_000059.4(BRCA2):c.6586A>G (p.Lys2196Glu)
|
rs398122561
|
|
|
NM_000059.4(BRCA2):c.6587A>G (p.Lys2196Arg)
|
rs1555284764
|
|
|
NM_000059.4(BRCA2):c.6610C>G (p.Pro2204Ala)
|
rs2072560609
|
|
|
NM_000059.4(BRCA2):c.6611C>A (p.Pro2204His)
|
rs1555284771
|
|
|
NM_000059.4(BRCA2):c.6614T>G (p.Val2205Gly)
|
rs730881546
|
|
|
NM_000059.4(BRCA2):c.6623A>G (p.Asn2208Ser)
|
rs767110818
|
|
|
NM_000059.4(BRCA2):c.6625_6626delinsGA (p.Ile2209Glu)
|
rs2072560950
|
|
|
NM_000059.4(BRCA2):c.6635G>T (p.Cys2212Phe)
|
rs1566235052
|
|
|
NM_000059.4(BRCA2):c.6640A>G (p.Thr2214Ala)
|
rs377200598
|
|
|
NM_000059.4(BRCA2):c.6647C>T (p.Ser2216Phe)
|
rs1555284777
|
|
|
NM_000059.4(BRCA2):c.6659A>G (p.Glu2220Gly)
|
rs1555284784
|
|
|
NM_000059.4(BRCA2):c.6691G>A (p.Ala2231Thr)
|
rs758379999
|
|
|
NM_000059.4(BRCA2):c.6691G>C (p.Ala2231Pro)
|
rs758379999
|
|
|
NM_000059.4(BRCA2):c.6691G>T (p.Ala2231Ser)
|
rs758379999
|
|
|
NM_000059.4(BRCA2):c.6700T>C (p.Phe2234Leu)
|
rs769956199
|
|
|
NM_000059.4(BRCA2):c.6707A>G (p.Glu2236Gly)
|
rs1555284803
|
|
|
NM_000059.4(BRCA2):c.6712G>A (p.Asp2238Asn)
|
rs749590229
|
|
|
NM_000059.4(BRCA2):c.6714T>G (p.Asp2238Glu)
|
rs28897742
|
|
|
NM_000059.4(BRCA2):c.6715G>C (p.Glu2239Gln)
|
rs276174876
|
|
|
NM_000059.4(BRCA2):c.6722C>G (p.Thr2241Arg)
|
rs276174877
|
|
|
NM_000059.4(BRCA2):c.6737C>G (p.Pro2246Arg)
|
rs587782038
|
|
|
NM_000059.4(BRCA2):c.6744T>A (p.His2248Gln)
|
rs1555284842
|
|
|
NM_000059.4(BRCA2):c.6745G>A (p.Ala2249Thr)
|
rs587781435
|
|
|
NM_000059.4(BRCA2):c.6755C>G (p.Ser2252Cys)
|
rs876658504
|
|
|
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr)
|
rs786202915
|
|
|
NM_000059.4(BRCA2):c.6766T>A (p.Cys2256Ser)
|
rs559106452
|
|
|
NM_000059.4(BRCA2):c.6770C>G (p.Pro2257Arg)
|
rs80358903
|
|
|
NM_000059.4(BRCA2):c.6781G>A (p.Glu2261Lys)
|
rs876660812
|
|
|
NM_000059.4(BRCA2):c.68-7del
|
rs276174878
|
|
|
NM_000059.4(BRCA2):c.68-7dup
|
rs276174878
|
|
|
NM_000059.4(BRCA2):c.681+2dup
|
rs587781486
|
|
|
NM_000059.4(BRCA2):c.6817A>G (p.Arg2273Gly)
|
rs1566235443
|
|
|
NM_000059.4(BRCA2):c.681T>C (p.Ala227=)
|
rs1478233429
|
|
|
NM_000059.4(BRCA2):c.6823G>A (p.Glu2275Lys)
|
rs587782362
|
|
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
rs80358907
|
|
|
NM_000059.4(BRCA2):c.6829C>T (p.Leu2277Phe)
|
rs786202214
|
|
|
NM_000059.4(BRCA2):c.6832A>C (p.Ile2278Leu)
|
rs772645059
|
|
|
NM_000059.4(BRCA2):c.6839T>C (p.Val2280Ala)
|
rs1566235479
|
|
|
NM_000059.4(BRCA2):c.6866T>G (p.Leu2289Ter)
|
rs1555285146
|
|
|
NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs)
|
rs1566236904
|
|
|
NM_000059.4(BRCA2):c.6916G>C (p.Ala2306Pro)
|
rs730881550
|
|
|
NM_000059.4(BRCA2):c.6937+5A>G
|
rs397507379
|
|
|
NM_000059.4(BRCA2):c.6938-15A>G
|
rs587782358
|
|
|
NM_000059.4(BRCA2):c.6938-6_6938-3del
|
rs1566237728
|
|
|
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)
|
rs876661032
|
|
|
NM_000059.4(BRCA2):c.7008-5T>C
|
rs397507380
|
|
|
NM_000059.4(BRCA2):c.7039C>G (p.Pro2347Ala)
|
rs876660668
|
|
|
NM_000059.4(BRCA2):c.7051G>T (p.Ala2351Ser)
|
rs80358930
|
|
|
NM_000059.4(BRCA2):c.7088A>G (p.Tyr2363Cys)
|
rs80358939
|
|
|
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln)
|
rs370708814
|
|
|
NM_000059.4(BRCA2):c.709G>A (p.Asp237Asn)
|
rs398122575
|
|
|
NM_000059.4(BRCA2):c.7141C>G (p.Pro2381Ala)
|
rs777305503
|
|
|
NM_000059.4(BRCA2):c.7150C>G (p.Gln2384Glu)
|
rs55977008
|
|
|
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)
|
rs1555286026
|
|
|
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe)
|
rs587780871
|
|
|
NM_000059.4(BRCA2):c.7241_7242delinsTG
|
|
|
|
NM_000059.4(BRCA2):c.7252A>G (p.Arg2418Gly)
|
rs80358953
|
|
|
NM_000059.4(BRCA2):c.7277T>C (p.Ile2426Thr)
|
rs1555286064
|
|
|
NM_000059.4(BRCA2):c.7313A>G (p.Asp2438Gly)
|
rs80358957
|
|
|
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val)
|
rs431825352
|
|
|
NM_000059.4(BRCA2):c.7351G>A (p.Asp2451Asn)
|
rs1064794968
|
|
|
NM_000059.4(BRCA2):c.7373A>G (p.Asn2458Ser)
|
rs786202262
|
|
|
NM_000059.4(BRCA2):c.7382A>G (p.Asn2461Ser)
|
rs1566241260
|
|
|
NM_000059.4(BRCA2):c.739A>G (p.Ile247Val)
|
rs1169190081
|
|
|
NM_000059.4(BRCA2):c.7403T>A (p.Val2468Glu)
|
rs1237865460
|
|
|
NM_000059.4(BRCA2):c.7415A>C (p.Lys2472Thr)
|
rs80358963
|
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
|
NM_000059.4(BRCA2):c.7436-2A>T
|
rs397507917
|
|
|
NM_000059.4(BRCA2):c.7436-5G>A
|
rs2137561628
|
|
|
NM_000059.4(BRCA2):c.7462A>G (p.Arg2488Gly)
|
rs746057464
|
|
|
NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser)
|
rs80358969
|
|
|
NM_000059.4(BRCA2):c.7468A>G (p.Ile2490Val)
|
rs1555286235
|
|
|
NM_000059.4(BRCA2):c.7477A>T (p.Met2493Leu)
|
rs1064793329
|
|
|
NM_000059.4(BRCA2):c.748G>A (p.Val250Met)
|
rs1593890284
|
|
|
NM_000059.4(BRCA2):c.7499G>A (p.Arg2500Lys)
|
rs80358976
|
|
|
NM_000059.4(BRCA2):c.7499G>C (p.Arg2500Thr)
|
rs80358976
|
|
|
NM_000059.4(BRCA2):c.7504C>A (p.Arg2502Ser)
|
rs55716624
|
|
|
NM_000059.4(BRCA2):c.7505G>C (p.Arg2502Pro)
|
rs56070345
|
|
|
NM_000059.4(BRCA2):c.7505G>T (p.Arg2502Leu)
|
rs56070345
|
|
|
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)
|
rs80358979
|
|
|
NM_000059.4(BRCA2):c.752C>G (p.Thr251Arg)
|
rs587781513
|
|
|
NM_000059.4(BRCA2):c.7547C>G (p.Ser2516Cys)
|
rs571800995
|
|
|
NM_000059.4(BRCA2):c.7547C>T (p.Ser2516Phe)
|
rs571800995
|
|
|
NM_000059.4(BRCA2):c.7552C>G (p.Leu2518Val)
|
rs1555286279
|
|
|
NM_000059.4(BRCA2):c.7553T>G (p.Leu2518Arg)
|
rs1566242089
|
|
|
NM_000059.4(BRCA2):c.7556C>G (p.Pro2519Arg)
|
rs545454796
|
|
|
NM_000059.4(BRCA2):c.7559G>C (p.Arg2520Pro)
|
rs80358982
|
|
|
NM_000059.4(BRCA2):c.7559G>T (p.Arg2520Leu)
|
rs80358982
|
|
|
NM_000059.4(BRCA2):c.7579G>T (p.Val2527Leu)
|
rs1555286293
|
|
|
NM_000059.4(BRCA2):c.7580T>C (p.Val2527Ala)
|
rs587782676
|
|
|
NM_000059.4(BRCA2):c.7583G>A (p.Gly2528Glu)
|
rs80358986
|
|
|
NM_000059.4(BRCA2):c.7590A>C (p.Gln2530His)
|
rs786202429
|
|
|
NM_000059.4(BRCA2):c.7590A>T (p.Gln2530His)
|
rs786202429
|
|
|
NM_000059.4(BRCA2):c.7594C>A (p.Pro2532Thr)
|
rs397507388
|
|
|
NM_000059.4(BRCA2):c.7598C>G (p.Ser2533Cys)
|
rs80358987
|
|
|
NM_000059.4(BRCA2):c.7601C>A (p.Ala2534Glu)
|
rs74047012
|
|
|
NM_000059.4(BRCA2):c.7604G>A (p.Cys2535Tyr)
|
rs786203482
|
|
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
rs587781485
|
|
|
NM_000059.4(BRCA2):c.7630G>C (p.Gly2544Arg)
|
rs587781485
|
|
|
NM_000059.4(BRCA2):c.7631G>A (p.Gly2544Asp)
|
rs397507926
|
|
|
NM_000059.4(BRCA2):c.7639A>G (p.Lys2547Glu)
|
rs80358991
|
|
|
NM_000059.4(BRCA2):c.7645T>G (p.Cys2549Gly)
|
rs2072708250
|
|
|
NM_000059.4(BRCA2):c.7648A>G (p.Ile2550Val)
|
rs41293507
|
|
|
NM_000059.4(BRCA2):c.764A>G (p.Asn255Ser)
|
rs1555281475
|
|
|
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)
|
rs764761862
|
|
|
NM_000059.4(BRCA2):c.7698T>G (p.Asp2566Glu)
|
rs1593920849
|
|
|
NM_000059.4(BRCA2):c.7726G>A (p.Gly2576Arg)
|
rs1210418849
|
|
|
NM_000059.4(BRCA2):c.7740G>T (p.Gln2580His)
|
rs2072710234
|
|
|
NM_000059.4(BRCA2):c.7744G>A (p.Ala2582Thr)
|
rs876660384
|
|
|
NM_000059.4(BRCA2):c.7750G>T (p.Gly2584Cys)
|
rs1555286436
|
|
|
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg)
|
rs80359002
|
|
|
NM_000059.4(BRCA2):c.7765C>T (p.Pro2589Ser)
|
rs753047043
|
|
|
NM_000059.4(BRCA2):c.7772A>G (p.Asn2591Ser)
|
rs80359006
|
|
|
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)
|
rs876660874
|
|
|
NM_000059.4(BRCA2):c.7783G>A (p.Ala2595Thr)
|
rs80359007
|
|
|
NM_000059.4(BRCA2):c.7783G>T (p.Ala2595Ser)
|
rs80359007
|
|
|
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly)
|
rs780715340
|
|
|
NM_000059.4(BRCA2):c.7810C>G (p.Leu2604Val)
|
rs1381434852
|
|
|
NM_000059.4(BRCA2):c.7811T>C (p.Leu2604Pro)
|
rs431825357
|
|
|
NM_000059.4(BRCA2):c.7847C>T (p.Ser2616Phe)
|
rs1174303167
|
|
|
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys)
|
rs80359011
|
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
|
NM_000059.4(BRCA2):c.7868A>T (p.His2623Leu)
|
rs80359012
|
|
|
NM_000059.4(BRCA2):c.7874G>A (p.Arg2625Lys)
|
rs864622552
|
|
|
NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile)
|
rs864622552
|
|
|
NM_000059.4(BRCA2):c.7883T>C (p.Ile2628Thr)
|
rs879255465
|
|
|
NM_000059.4(BRCA2):c.7891C>A (p.Leu2631Met)
|
rs876660528
|
|
|
NM_000059.4(BRCA2):c.7895C>T (p.Ala2632Val)
|
rs765839296
|
|
|
NM_000059.4(BRCA2):c.7912T>C (p.Phe2638Leu)
|
rs876658206
|
|
|
NM_000059.4(BRCA2):c.7915C>A (p.Pro2639Thr)
|
rs80359017
|
|
|
NM_000059.4(BRCA2):c.7915C>G (p.Pro2639Ala)
|
rs80359017
|
|
|
NM_000059.4(BRCA2):c.7919A>G (p.Lys2640Arg)
|
rs397507394
|
|
|
NM_000059.4(BRCA2):c.7924T>C (p.Phe2642Leu)
|
rs1555286856
|
|
|
NM_000059.4(BRCA2):c.7925T>G (p.Phe2642Cys)
|
rs1287337540
|
|
|
NM_000059.4(BRCA2):c.7928C>T (p.Ala2643Val)
|
rs80359018
|
|
|
NM_000059.4(BRCA2):c.7933A>G (p.Arg2645Gly)
|
rs876658889
|
|
|
NM_000059.4(BRCA2):c.7938C>G (p.Cys2646Trp)
|
rs1064794927
|
|
|
NM_000059.4(BRCA2):c.793G>A (p.Gly265Arg)
|
rs1403242422
|
|
|
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro)
|
rs80359021
|
|
|
NM_000059.4(BRCA2):c.7956G>A (p.Val2652=)
|
rs2137577856
|
|
|
NM_000059.4(BRCA2):c.7976+5G>A
|
rs786201180
|
|
|
NM_000059.4(BRCA2):c.7976+5G>T
|
rs786201180
|
|
|
NM_000059.4(BRCA2):c.7977-1G>A
|
rs81002874
|
|
|
NM_000059.4(BRCA2):c.797T>G (p.Phe266Cys)
|
rs1566222067
|
|
|
NM_000059.4(BRCA2):c.7985C>A (p.Thr2662Lys)
|
rs431825362
|
|
|
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met)
|
rs431825362
|
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
|
NM_000059.4(BRCA2):c.7993G>T (p.Asp2665Tyr)
|
rs921017191
|
|
|
NM_000059.4(BRCA2):c.7997G>C (p.Arg2666Thr)
|
rs80359033
|
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
|
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro)
|
rs28897746
|
|
|
NM_000059.4(BRCA2):c.8059G>A (p.Val2687Ile)
|
rs80359044
|
|
|
NM_000059.4(BRCA2):c.8077A>G (p.Ile2693Val)
|
rs1060502493
|
|
|
NM_000059.4(BRCA2):c.8091C>A (p.Ser2697Arg)
|
rs140782158
|
|
|
NM_000059.4(BRCA2):c.8098A>G (p.Ile2700Val)
|
rs80359053
|
|
|
NM_000059.4(BRCA2):c.8101T>C (p.Ser2701Pro)
|
rs587782781
|
|
|
NM_000059.4(BRCA2):c.8104G>A (p.Glu2702Lys)
|
rs186224762
|
|
|
NM_000059.4(BRCA2):c.8115C>G (p.Ser2705Arg)
|
rs587781889
|
|
|
NM_000059.4(BRCA2):c.8128A>G (p.Ser2710Gly)
|
rs398122597
|
|
|
NM_000059.4(BRCA2):c.8129G>A (p.Ser2710Asn)
|
rs2072756770
|
|
|
NM_000059.4(BRCA2):c.812G>A (p.Gly271Glu)
|
rs1247032180
|
|
|
NM_000059.4(BRCA2):c.8135A>T (p.Asp2712Val)
|
rs80359057
|
|
|
NM_000059.4(BRCA2):c.8141A>G (p.Gln2714Arg)
|
rs80359059
|
|
|
NM_000059.4(BRCA2):c.814A>G (p.Asn272Asp)
|
rs398122598
|
|
|
NM_000059.4(BRCA2):c.8150C>T (p.Ala2717Val)
|
rs876659220
|
|
|
NM_000059.4(BRCA2):c.8152A>G (p.Ile2718Val)
|
rs2072757385
|
|
|
NM_000059.4(BRCA2):c.8157T>G (p.Ile2719Met)
|
rs730881563
|
|
|
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His)
|
rs80359061
|
|
|
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)
|
rs1060502432
|
|
|
NM_000059.4(BRCA2):c.8180C>G (p.Ala2727Gly)
|
rs879255468
|
|
|
NM_000059.4(BRCA2):c.8182G>C (p.Val2728Leu)
|
rs28897749
|
|
|
NM_000059.4(BRCA2):c.8188G>T (p.Ala2730Ser)
|
rs80359066
|
|
|
NM_000059.4(BRCA2):c.8189C>G (p.Ala2730Gly)
|
rs80359067
|
|
|
NM_000059.4(BRCA2):c.8192A>G (p.Gln2731Arg)
|
rs753837544
|
|
|
NM_000059.4(BRCA2):c.8206C>T (p.Leu2736Phe)
|
rs1555287042
|
|
|
NM_000059.4(BRCA2):c.8213C>G (p.Ala2738Gly)
|
rs1555287046
|
|
|
NM_000059.4(BRCA2):c.8215G>T (p.Val2739Phe)
|
rs80359069
|
|
|
NM_000059.4(BRCA2):c.822T>A (p.Phe274Leu)
|
rs1566222119
|
|
|
NM_000059.4(BRCA2):c.8231G>A (p.Arg2744Lys)
|
rs1555287056
|
|
|
NM_000059.4(BRCA2):c.8233C>G (p.Leu2745Val)
|
rs786201752
|
|
|
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val)
|
rs80359071
|
|
|
NM_000059.4(BRCA2):c.8254A>T (p.Ile2752Phe)
|
rs80359072
|
|
|
NM_000059.4(BRCA2):c.826G>T (p.Val276Leu)
|
rs1485423178
|
|
|
NM_000059.4(BRCA2):c.8282C>G (p.Ser2761Cys)
|
rs431825363
|
|
|
NM_000059.4(BRCA2):c.8285C>G (p.Pro2762Arg)
|
rs398122600
|
|
|
NM_000059.4(BRCA2):c.8299C>T (p.Pro2767Ser)
|
rs587782619
|
|
|
NM_000059.4(BRCA2):c.8303T>A (p.Leu2768His)
|
rs587782732
|
|
|
NM_000059.4(BRCA2):c.8303T>C (p.Leu2768Pro)
|
rs587782732
|
|
|
NM_000059.4(BRCA2):c.8321T>C (p.Leu2774Pro)
|
rs786203278
|
|
|
NM_000059.4(BRCA2):c.8324T>A (p.Met2775Lys)
|
rs80359073
|
|
|
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr)
|
rs80359073
|
|
|
NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg)
|
rs80359073
|
|
|
NM_000059.4(BRCA2):c.8331+2T>C
|
rs398122602
|
|
|
NM_000059.4(BRCA2):c.8332-1G>T
|
rs397507979
|
|
|
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile)
|
rs1434821822
|
|
|
NM_000059.4(BRCA2):c.8347A>G (p.Thr2783Ala)
|
rs1060502463
|
|
|
NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu)
|
rs80359076
|
|
|
NM_000059.4(BRCA2):c.8354C>T (p.Pro2785Leu)
|
rs786202034
|
|
|
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser)
|
rs80359080
|
|
|
NM_000059.4(BRCA2):c.8368A>T (p.Thr2790Ser)
|
rs80359081
|
|
|
NM_000059.4(BRCA2):c.837C>G (p.Cys279Trp)
|
rs587781421
|
|
|
NM_000059.4(BRCA2):c.838A>C (p.Lys280Gln)
|
rs80359085
|
|
|
NM_000059.4(BRCA2):c.838A>G (p.Lys280Glu)
|
rs80359085
|
|
|
NM_000059.4(BRCA2):c.8398C>T (p.Pro2800Ser)
|
rs80359086
|
|
|
NM_000059.4(BRCA2):c.8411C>T (p.Pro2804Leu)
|
rs876658705
|
|
|
NM_000059.4(BRCA2):c.8418A>T (p.Ser2806=)
|
rs1555287636
|
|
|
NM_000059.4(BRCA2):c.8419T>C (p.Ser2807Pro)
|
rs1555287637
|
|
|
NM_000059.4(BRCA2):c.8429G>A (p.Ser2810Asn)
|
rs2072821561
|
|
|
NM_000059.4(BRCA2):c.8441A>G (p.Asn2814Ser)
|
rs1593930427
|
|
|
NM_000059.4(BRCA2):c.8446G>C (p.Gly2816Arg)
|
rs1555287651
|
|
|
NM_000059.4(BRCA2):c.8447G>A (p.Gly2816Asp)
|
rs56096120
|
|
|
NM_000059.4(BRCA2):c.8468A>G (p.Gln2823Arg)
|
rs876660101
|
|
|
NM_000059.4(BRCA2):c.8473G>A (p.Ala2825Thr)
|
rs587782874
|
|
|
NM_000059.4(BRCA2):c.8479C>G (p.Pro2827Ala)
|
rs786202484
|
|
|
NM_000059.4(BRCA2):c.8482A>G (p.Ile2828Val)
|
rs80359098
|
|
|
NM_000059.4(BRCA2):c.8482A>T (p.Ile2828Leu)
|
rs80359098
|
|
|
NM_000059.4(BRCA2):c.8484A>G (p.Ile2828Met)
|
rs950154005
|
|
|
NM_000059.4(BRCA2):c.8485C>A (p.Gln2829Lys)
|
rs80359099
|
|
|
NM_000059.4(BRCA2):c.8488-3C>T
|
rs1566249158
|
|
|
NM_000059.4(BRCA2):c.8488-9T>G
|
rs2137599630
|
|
|
NM_000059.4(BRCA2):c.8494G>C (p.Glu2832Gln)
|
rs876658951
|
|
|
NM_000059.4(BRCA2):c.8500A>G (p.Thr2834Ala)
|
rs886037819
|
|
|
NM_000059.4(BRCA2):c.8506T>C (p.Ser2836Pro)
|
rs2072828445
|
|
|
NM_000059.4(BRCA2):c.8525G>T (p.Arg2842Leu)
|
rs80359105
|
|
|
NM_000059.4(BRCA2):c.8527A>C (p.Asn2843His)
|
rs876660403
|
|
|
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)
|
rs755783122
|
|
|
NM_000059.4(BRCA2):c.853A>G (p.Lys285Glu)
|
rs2072398689
|
|
|
NM_000059.4(BRCA2):c.8544A>T (p.Glu2848Asp)
|
rs786201871
|
|
|
NM_000059.4(BRCA2):c.8548G>A (p.Glu2850Lys)
|
rs80359110
|
|
|
NM_000059.4(BRCA2):c.8550A>C (p.Glu2850Asp)
|
rs1566249284
|
|
|
NM_000059.4(BRCA2):c.8554G>A (p.Ala2852Thr)
|
rs1555287769
|
|
|
NM_000059.4(BRCA2):c.8559A>G (p.Lys2853=)
|
rs1057520669
|
|
|
NM_000059.4(BRCA2):c.855G>T (p.Lys285Asn)
|
rs1389778857
|
|
|
NM_000059.4(BRCA2):c.8569G>T (p.Ala2857Ser)
|
rs730881565
|
|
|
NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys)
|
rs80359112
|
|
|
NM_000059.4(BRCA2):c.8593T>G (p.Leu2865Val)
|
rs80359117
|
|
|
NM_000059.4(BRCA2):c.8602A>G (p.Lys2868Glu)
|
rs1469574477
|
|
|
NM_000059.4(BRCA2):c.8612A>G (p.Glu2871Gly)
|
rs1566249398
|
|
|
NM_000059.4(BRCA2):c.8614G>A (p.Glu2872Lys)
|
rs1555287788
|
|
|
NM_000059.4(BRCA2):c.8623G>A (p.Glu2875Lys)
|
rs2137601108
|
|
|
NM_000059.4(BRCA2):c.8629G>A (p.Glu2877Lys)
|
rs80359121
|
|
|
NM_000059.4(BRCA2):c.8633-2A>G
|
rs81002886
|
|
|
NM_000059.4(BRCA2):c.8650T>C (p.Tyr2884His)
|
rs2137612442
|
|
|
NM_000059.4(BRCA2):c.8651A>T (p.Tyr2884Phe)
|
rs587781494
|
|
|
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)
|
rs766173
|
|
|
NM_000059.4(BRCA2):c.8663G>T (p.Arg2888Leu)
|
rs80359124
|
|
|
NM_000059.4(BRCA2):c.8665G>T (p.Ala2889Ser)
|
rs80359126
|
|
|
NM_000059.4(BRCA2):c.8668C>G (p.Leu2890Val)
|
rs80359127
|
|
|
NM_000059.4(BRCA2):c.8689G>T (p.Ala2897Ser)
|
rs1555288156
|
|
|
NM_000059.4(BRCA2):c.8713T>C (p.Tyr2905His)
|
rs1555288170
|
|
|
NM_000059.4(BRCA2):c.8719G>A (p.Ala2907Thr)
|
rs1593934954
|
|
|
NM_000059.4(BRCA2):c.8740C>G (p.Pro2914Ala)
|
rs876660226
|
|
|
NM_000059.4(BRCA2):c.8744C>T (p.Ala2915Val)
|
rs1310128359
|
|
|
NM_000059.4(BRCA2):c.8754+3G>C
|
rs397508007
|
|
|
NM_000059.4(BRCA2):c.8754+5G>A
|
rs81002813
|
|
|
NM_000059.4(BRCA2):c.8755-11A>G
|
rs1371032020
|
|
|
NM_000059.4(BRCA2):c.8755-3C>G
|
rs2072896768
|
|
|
NM_000059.4(BRCA2):c.8766T>G (p.Ser2922Arg)
|
rs1060502497
|
|
|
NM_000059.4(BRCA2):c.8768A>G (p.Glu2923Gly)
|
rs1593936528
|
|
|
NM_000059.4(BRCA2):c.8798G>A (p.Arg2933Lys)
|
rs553440338
|
|
|
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)
|
rs397507414
|
|
|
NM_000059.4(BRCA2):c.8824G>A (p.Ala2942Thr)
|
rs80359139
|
|
|
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)
|
rs373227180
|
|
|
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)
|
rs587781800
|
|
|
NM_000059.4(BRCA2):c.883G>A (p.Val295Ile)
|
rs1254525537
|
|
|
NM_000059.4(BRCA2):c.8844T>G (p.Ile2948Met)
|
rs1064793691
|
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
|
NM_000059.4(BRCA2):c.8854A>G (p.Met2952Val)
|
rs397508016
|
|
|
NM_000059.4(BRCA2):c.8860T>C (p.Ser2954Pro)
|
rs886041145
|
|
|
NM_000059.4(BRCA2):c.8870A>G (p.Gln2957Arg)
|
rs763943647
|
|
|
NM_000059.4(BRCA2):c.8875G>A (p.Glu2959Lys)
|
rs786202920
|
|
|
NM_000059.4(BRCA2):c.8881G>A (p.Gly2961Ser)
|
rs878853614
|
|
|
NM_000059.4(BRCA2):c.8897T>C (p.Val2966Ala)
|
rs876658955
|
|
|
NM_000059.4(BRCA2):c.890A>G (p.Glu297Gly)
|
rs765756715
|
|
|
NM_000059.4(BRCA2):c.8929T>C (p.Tyr2977His)
|
rs587776473
|
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
|
NM_000059.4(BRCA2):c.8954-5_8954-2del
|
rs587782878
|
|
|
NM_000059.4(BRCA2):c.8957T>C (p.Ile2986Thr)
|
rs431825372
|
|
|
NM_000059.4(BRCA2):c.8958A>G (p.Ile2986Met)
|
rs398122719
|
|
|
NM_000059.4(BRCA2):c.8963G>A (p.Ser2988Asn)
|
rs778052683
|
|
|
NM_000059.4(BRCA2):c.8982A>T (p.Ser2994=)
|
rs1060504623
|
|
|
NM_000059.4(BRCA2):c.898G>A (p.Val300Ile)
|
rs878853616
|
|
|
NM_000059.4(BRCA2):c.898G>T (p.Val300Leu)
|
rs878853616
|
|
|
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)
|
rs587782779
|
|
|
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)
|
rs397507416
|
|
|
NM_000059.4(BRCA2):c.901G>A (p.Asp301Asn)
|
rs1555281626
|
|
|
NM_000059.4(BRCA2):c.9043A>G (p.Lys3015Glu)
|
rs587781497
|
|
|
NM_000059.4(BRCA2):c.9049A>G (p.Lys3017Glu)
|
rs1555288473
|
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
|
NM_000059.4(BRCA2):c.9058T>C (p.Ser3020Pro)
|
rs587781403
|
|
|
NM_000059.4(BRCA2):c.905C>G (p.Thr302Ser)
|
rs80359158
|
|
|
NM_000059.4(BRCA2):c.905C>T (p.Thr302Ile)
|
rs80359158
|
|
|
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)
|
rs587781493
|
|
|
NM_000059.4(BRCA2):c.9073A>G (p.Ile3025Val)
|
rs879255470
|
|
|
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)
|
rs80359161
|
|
|
NM_000059.4(BRCA2):c.9094A>C (p.Lys3032Gln)
|
rs1555288501
|
|
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
rs80359165
|
|
|
NM_000059.4(BRCA2):c.9111A>T (p.Gln3037His)
|
rs200814465
|
|
|
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)
|
rs80359167
|
|
|
NM_000059.4(BRCA2):c.913G>A (p.Glu305Lys)
|
rs80359169
|
|
|
NM_000059.4(BRCA2):c.9141G>T (p.Gln3047His)
|
rs1358886039
|
|
|
NM_000059.4(BRCA2):c.9149A>T (p.Gln3050Leu)
|
rs1555288535
|
|
|
NM_000059.4(BRCA2):c.9152C>A (p.Pro3051Gln)
|
rs1555288537
|
|
|
NM_000059.4(BRCA2):c.9160C>T (p.Pro3054Ser)
|
rs786204070
|
|
|
NM_000059.4(BRCA2):c.9161C>A (p.Pro3054His)
|
rs80359172
|
|
|
NM_000059.4(BRCA2):c.9161C>T (p.Pro3054Leu)
|
rs80359172
|
|
|
NM_000059.4(BRCA2):c.9171C>G (p.Phe3057Leu)
|
rs747615055
|
|
|
NM_000059.4(BRCA2):c.9177A>C (p.Lys3059Asn)
|
rs201561974
|
|
|
NM_000059.4(BRCA2):c.9205T>G (p.Cys3069Gly)
|
rs398122611
|
|
|
NM_000059.4(BRCA2):c.9206G>T (p.Cys3069Phe)
|
rs587782091
|
|
|
NM_000059.4(BRCA2):c.9209C>T (p.Ser3070Phe)
|
rs747837583
|
|
|
NM_000059.4(BRCA2):c.9213G>T (p.Glu3071Asp)
|
rs80359184
|
|
|
NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr)
|
rs876658262
|
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
|
NM_000059.4(BRCA2):c.921T>A (p.Ser307Arg)
|
rs1555281636
|
|
|
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val)
|
rs80359187
|
|
|
NM_000059.4(BRCA2):c.9235G>T (p.Val3079Phe)
|
rs55933907
|
|
|
NM_000059.4(BRCA2):c.9239C>G (p.Ser3080Cys)
|
rs757824441
|
|
|
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)
|
rs574271678
|
|
|
NM_000059.4(BRCA2):c.9259C>A (p.Leu3087Ile)
|
rs876660803
|
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
|
NM_000059.4(BRCA2):c.928T>G (p.Leu310Val)
|
rs778907270
|
|
|
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)
|
rs1555289516
|
|
|
NM_000059.4(BRCA2):c.9296A>G (p.Asn3099Ser)
|
rs730881571
|
|
|
NM_000059.4(BRCA2):c.9305C>T (p.Ala3102Val)
|
rs2137652411
|
|
|
NM_000059.4(BRCA2):c.9307A>G (p.Ile3103Val)
|
rs80359203
|
|
|
NM_000059.4(BRCA2):c.9309A>G (p.Ile3103Met)
|
rs80359204
|
|
|
NM_000059.4(BRCA2):c.9331G>A (p.Glu3111Lys)
|
rs397508047
|
|
|
NM_000059.4(BRCA2):c.9334G>A (p.Asp3112Asn)
|
rs759851035
|
|
|
NM_000059.4(BRCA2):c.9340A>T (p.Ile3114Phe)
|
rs1555289545
|
|
|
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)
|
rs276174923
|
|
|
NM_000059.4(BRCA2):c.9349C>T (p.His3117Tyr)
|
rs2073022451
|
|
|
NM_000059.4(BRCA2):c.9350A>C (p.His3117Pro)
|
rs80359206
|
|
|
NM_000059.4(BRCA2):c.9355T>A (p.Leu3119Ile)
|
rs2137653046
|
|
|
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro)
|
rs587782313
|
|
|
NM_000059.4(BRCA2):c.9368G>A (p.Ser3123Asn)
|
rs1593199801
|
|
|
NM_000059.4(BRCA2):c.9374T>C (p.Leu3125Pro)
|
|
|
|
NM_000059.4(BRCA2):c.9391T>C (p.Ser3131Pro)
|
rs398122613
|
|
|
NM_000059.4(BRCA2):c.9395A>G (p.Lys3132Arg)
|
rs587782599
|
|
|
NM_000059.4(BRCA2):c.9398C>T (p.Ser3133Leu)
|
rs876659439
|
|
|
NM_000059.4(BRCA2):c.9401G>C (p.Gly3134Ala)
|
rs80359215
|
|
|
NM_000059.4(BRCA2):c.9401G>T (p.Gly3134Val)
|
rs80359215
|
|
|
NM_000059.4(BRCA2):c.9403C>A (p.Leu3135Ile)
|
rs55704151
|
|
|
NM_000059.4(BRCA2):c.9406C>G (p.Leu3136Val)
|
rs2137653701
|
|
|
NM_000059.4(BRCA2):c.9418G>A (p.Ala3140Thr)
|
rs786203511
|
|
|
NM_000059.4(BRCA2):c.9433G>A (p.Val3145Met)
|
rs587776476
|
|
|
NM_000059.4(BRCA2):c.9442G>A (p.Ala3148Thr)
|
rs949790323
|
|
|
NM_000059.4(BRCA2):c.9443C>T (p.Ala3148Val)
|
rs587781514
|
|
|
NM_000059.4(BRCA2):c.944G>A (p.Cys315Tyr)
|
rs2072400977
|
|
|
NM_000059.4(BRCA2):c.9457G>T (p.Gly3153Cys)
|
rs1566259215
|
|
|
NM_000059.4(BRCA2):c.9458G>T (p.Gly3153Val)
|
rs80359220
|
|
|
NM_000059.4(BRCA2):c.9481A>G (p.Lys3161Glu)
|
rs80359222
|
|
|
NM_000059.4(BRCA2):c.9490A>G (p.Asn3164Asp)
|
rs876658597
|
|
|
NM_000059.4(BRCA2):c.9497T>C (p.Val3166Ala)
|
rs876658721
|
|
|
NM_000059.4(BRCA2):c.949A>G (p.Thr317Ala)
|
rs1555281645
|
|
|
NM_000059.4(BRCA2):c.9506T>C (p.Ile3169Thr)
|
rs1244221685
|
|
|
NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser)
|
rs1555289773
|
|
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
|
|
NM_000059.4(BRCA2):c.9536A>G (p.Lys3179Arg)
|
rs1566260108
|
|
|
NM_000059.4(BRCA2):c.9542T>G (p.Met3181Arg)
|
rs80359225
|
|
|
NM_000059.4(BRCA2):c.9550C>G (p.Leu3184Val)
|
rs876660551
|
|
|
NM_000059.4(BRCA2):c.955A>G (p.Asn319Asp)
|
rs1060502491
|
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
|
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)
|
rs55939572
|
|
|
NM_000059.4(BRCA2):c.9571T>C (p.Trp3191Arg)
|
rs876658351
|
|
|
NM_000059.4(BRCA2):c.9584C>T (p.Thr3195Ile)
|
rs431825376
|
|
|
NM_000059.4(BRCA2):c.9606G>C (p.Pro3202=)
|
rs755890067
|
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
|
NM_000059.4(BRCA2):c.9620T>C (p.Ile3207Thr)
|
rs876658942
|
|
|
NM_000059.4(BRCA2):c.9632C>A (p.Thr3211Lys)
|
rs730881583
|
|
|
NM_000059.4(BRCA2):c.9649-5A>G
|
rs1057522325
|
|
|
NM_000059.4(BRCA2):c.9651G>A (p.Met3217Ile)
|
rs431825379
|
|
|
NM_000059.4(BRCA2):c.9671T>C (p.Ile3224Thr)
|
rs1566260766
|
|
|
NM_000059.4(BRCA2):c.967G>A (p.Val323Ile)
|
rs1566222487
|
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
|
NM_000059.4(BRCA2):c.971G>A (p.Arg324Lys)
|
rs397507435
|
|
|
NM_000059.4(BRCA2):c.9748T>A (p.Ser3250Thr)
|
rs1173590589
|
|
|
NM_000059.4(BRCA2):c.9748dup (p.Ser3250fs)
|
rs886040850
|
|
|
NM_000059.4(BRCA2):c.9785A>C (p.Gln3262Pro)
|
rs1566261012
|
|
|
NM_000059.4(BRCA2):c.978C>G (p.Ser326Arg)
|
rs28897706
|
|
|
NM_000059.4(BRCA2):c.9808del (p.Ala3270fs)
|
rs398122622
|
|
|
NM_000059.4(BRCA2):c.980A>C (p.Lys327Thr)
|
rs1566222524
|
|
|
NM_000059.4(BRCA2):c.9838C>T (p.Pro3280Ser)
|
rs55835607
|
|
|
NM_000059.4(BRCA2):c.9856A>G (p.Ile3286Val)
|
rs1566261093
|
|
|
NM_000059.4(BRCA2):c.9857T>A (p.Ile3286Asn)
|
rs398122624
|
|
|
NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)
|
rs80359247
|
|
|
NM_000059.4(BRCA2):c.9907A>T (p.Ser3303Cys)
|
rs276174930
|
|
|
NM_000059.4(BRCA2):c.9914G>A (p.Gly3305Asp)
|
rs730881577
|
|
|
NM_000059.4(BRCA2):c.9917C>T (p.Thr3306Ile)
|
rs80359250
|
|
|
NM_000059.4(BRCA2):c.992A>T (p.Lys331Ile)
|
rs80359253
|
|
|
NM_000059.4(BRCA2):c.9936A>G (p.Ile3312Met)
|
rs80359255
|
|
|
NM_000059.4(BRCA2):c.993A>C (p.Lys331Asn)
|
rs1060502486
|
|
|
NM_000059.4(BRCA2):c.995T>A (p.Ile332Asn)
|
rs1555281682
|
|
|
NM_000059.4(BRCA2):c.998T>G (p.Phe333Cys)
|
rs781464949
|
|
|
NM_000059.4(BRCA2):c.9995C>G (p.Ser3332Cys)
|
rs876658246
|
|
|
NM_000069.3(CACNA1S):c.1151-13C>A
|
rs200273802
|
|
|
NM_000069.3(CACNA1S):c.1191C>T (p.Ser397=)
|
|
|
|
NM_000069.3(CACNA1S):c.12C>T (p.Ser4=)
|
rs1448450110
|
|
|
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn)
|
rs143202536
|
|
|
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)
|
rs150590855
|
|
|
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)
|
rs150590855
|
|
|
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu)
|
rs140662085
|
|
|
NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=)
|
rs143999390
|
|
|
NM_000069.3(CACNA1S):c.1731C>T (p.Gly577=)
|
|
|
|
NM_000069.3(CACNA1S):c.1777C>A (p.Arg593=)
|
rs138541733
|
|
|
NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln)
|
rs113812219
|
|
|
NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu)
|
rs762032797
|
|
|
NM_000069.3(CACNA1S):c.1785C>T (p.Ser595=)
|
|
|
|
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=)
|
rs200743095
|
|
|
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys)
|
rs144590408
|
|
|
NM_000069.3(CACNA1S):c.2047C>A (p.Arg683Ser)
|
rs35708442
|
|
|
NM_000069.3(CACNA1S):c.2386G>A (p.Val796Ile)
|
|
|
|
NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=)
|
rs141619541
|
|
|
NM_000069.3(CACNA1S):c.2454G>T (p.Ala818=)
|
rs141619541
|
|
|
NM_000069.3(CACNA1S):c.2490+5C>G
|
rs369813191
|
|
|
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val)
|
rs553593355
|
|
|
NM_000069.3(CACNA1S):c.2932G>A (p.Gly978Arg)
|
rs760596943
|
|
|
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg)
|
rs146497999
|
|
|
NM_000069.3(CACNA1S):c.3054-3del
|
rs1661047672
|
|
|
NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val)
|
rs751604155
|
|
|
NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His)
|
rs1800559
|
|
|
NM_000069.3(CACNA1S):c.3415-1G>A
|
rs780724976
|
|
|
NM_000069.3(CACNA1S):c.3425A>G (p.Gln1142Arg)
|
rs139373152
|
|
|
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His)
|
rs774416016
|
|
|
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser)
|
rs774300377
|
|
|
NM_000069.3(CACNA1S):c.4309A>C (p.Lys1437Gln)
|
rs752196801
|
|
|
NM_000069.3(CACNA1S):c.4524G>C (p.Gln1508His)
|
|
|
|
NM_000069.3(CACNA1S):c.4543+2T>C
|
rs1572023336
|
|
|
NM_000069.3(CACNA1S):c.4565A>G (p.Lys1522Arg)
|
rs763242241
|
|
|
NM_000069.3(CACNA1S):c.460A>G (p.Ser154Gly)
|
rs761768992
|
|
|
NM_000069.3(CACNA1S):c.4798-5C>G
|
rs375500585
|
|
|
NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs)
|
rs761214441
|
|
|
NM_000069.3(CACNA1S):c.4924G>A (p.Val1642Ile)
|
rs148724065
|
|
|
NM_000069.3(CACNA1S):c.4947del (p.Asp1650fs)
|
rs772130841
|
|
|
NM_000069.3(CACNA1S):c.4955G>A (p.Arg1652His)
|
rs567364021
|
|
|
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)
|
rs550371466
|
|
|
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln)
|
rs201310235
|
|
|
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)
|
rs201310235
|
|
|
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)
|
rs200434921
|
|
|
NM_000069.3(CACNA1S):c.5423T>C (p.Met1808Thr)
|
rs1170882286
|
|
|
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs)
|
rs554596425
|
|
|
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln)
|
rs368214163
|
|
|
NM_000069.3(CACNA1S):c.648G>A (p.Glu216=)
|
rs200633947
|
|
|
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp)
|
rs35534614
|
|
|
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)
|
rs35534614
|
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)
|
rs587780668
|
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)
|
rs587780668
|
|
|
NM_000077.5(CDKN2A):c.11C>T (p.Ala4Val)
|
rs1277299943
|
|
|
NM_000077.5(CDKN2A):c.123G>A (p.Pro41=)
|
rs754366579
|
|
|
NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr)
|
rs786204195
|
|
|
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)
|
rs199907548
|
|
|
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile)
|
rs104894095
|
|
|
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val)
|
rs372266620
|
|
|
NM_000077.5(CDKN2A):c.17G>A (p.Gly6Glu)
|
rs864622656
|
|
|
NM_000077.5(CDKN2A):c.190C>T (p.Leu64=)
|
rs2131096124
|
|
|
NM_000077.5(CDKN2A):c.192G>T (p.Leu64=)
|
rs876659128
|
|
|
NM_000077.5(CDKN2A):c.194T>C (p.Leu65Pro)
|
rs1587332314
|
|
|
NM_000077.5(CDKN2A):c.199G>A (p.Gly67Ser)
|
rs758389471
|
|
|
NM_000077.5(CDKN2A):c.19A>T (p.Ser7Cys)
|
rs1554656670
|
|
|
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val)
|
rs1060501260
|
|
|
NM_000077.5(CDKN2A):c.219C>T (p.Ala73=)
|
rs730881679
|
|
|
NM_000077.5(CDKN2A):c.222C>T (p.Asp74=)
|
rs1587332001
|
|
|
NM_000077.5(CDKN2A):c.234C>T (p.Leu78=)
|
rs1587331920
|
|
|
NM_000077.5(CDKN2A):c.242C>G (p.Pro81Arg)
|
rs11552823
|
|
|
NM_000077.5(CDKN2A):c.249C>T (p.His83=)
|
rs34968276
|
|
|
NM_000077.5(CDKN2A):c.250G>T (p.Asp84Tyr)
|
rs11552822
|
|
|
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp)
|
rs137854599
|
|
|
NM_000077.5(CDKN2A):c.26T>A (p.Met9Lys)
|
rs145445140
|
|
|
NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly)
|
rs34886500
|
|
|
NM_000077.5(CDKN2A):c.303G>A (p.Gly101=)
|
rs1554654044
|
|
|
NM_000077.5(CDKN2A):c.319C>T (p.Arg107Cys)
|
rs1554654024
|
|
|
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn)
|
rs121913381
|
|
|
NM_000077.5(CDKN2A):c.339G>A (p.Leu113=)
|
rs575031539
|
|
|
NM_000077.5(CDKN2A):c.351G>A (p.Leu117=)
|
rs1060504182
|
|
|
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)
|
rs6413463
|
|
|
NM_000077.5(CDKN2A):c.418A>C (p.Ser140Arg)
|
rs1587330504
|
|
|
NM_000077.5(CDKN2A):c.42C>A (p.Asp14Glu)
|
rs1819961127
|
|
|
NM_000077.5(CDKN2A):c.434T>C (p.Ile145Thr)
|
rs730881680
|
|
|
NM_000077.5(CDKN2A):c.458-4G>C
|
rs876660514
|
|
|
NM_000077.5(CDKN2A):c.465C>G (p.Pro155=)
|
rs1471079871
|
|
|
NM_000077.5(CDKN2A):c.466G>A (p.Asp156Asn)
|
rs755445934
|
|
|
NM_000077.5(CDKN2A):c.71G>A (p.Arg24Gln)
|
rs104894097
|
|
|
NM_000077.5(CDKN2A):c.84G>A (p.Val28=)
|
rs1461154048
|
|
|
NM_000077.5(CDKN2A):c.85C>A (p.Arg29=)
|
rs1554656382
|
|
|
NM_000090.4(COL3A1):c.1285G>A (p.Gly429Ser)
|
rs1559056179
|
|
|
NM_000090.4(COL3A1):c.1337G>A (p.Arg446His)
|
rs149852181
|
|
|
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)
|
rs1801183
|
|
|
NM_000090.4(COL3A1):c.2355C>G (p.Pro785=)
|
rs148901664
|
|
|
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
|
rs777361888
|
|
|
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)
|
rs144036995
|
|
|
NM_000090.4(COL3A1):c.2824-5A>G
|
rs373994011
|
|
|
NM_000090.4(COL3A1):c.2963T>A (p.Leu988His)
|
rs770525372
|
|
|
NM_000090.4(COL3A1):c.3093+5A>G
|
rs1688583785
|
|
|
NM_000090.4(COL3A1):c.3117T>C (p.Ser1039=)
|
rs1559061716
|
|
|
NM_000090.4(COL3A1):c.3521C>T (p.Ser1174Phe)
|
|
|
|
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu)
|
rs886038983
|
|
|
NM_000090.4(COL3A1):c.3998A>G (p.Asp1333Gly)
|
rs376651720
|
|
|
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)
|
rs121912926
|
|
|
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter)
|
rs1393544920
|
|
|
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)
|
rs587779650
|
|
|
NM_000090.4(COL3A1):c.997-1G>C
|
rs587779687
|
|
|
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)
|
rs368737502
|
|
|
NM_000138.5(FBN1):c.1908A>G (p.Arg636=)
|
rs886039089
|
|
|
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys)
|
rs794728188
|
|
|
NM_000138.5(FBN1):c.248-4A>G
|
rs1597631751
|
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
|
NM_000138.5(FBN1):c.2786C>G (p.Thr929Ser)
|
rs764560018
|
|
|
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His)
|
rs369745372
|
|
|
NM_000138.5(FBN1):c.359A>G (p.Asn120Ser)
|
rs753900024
|
|
|
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)
|
rs397515806
|
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
|
NM_000138.5(FBN1):c.6478G>A (p.Ala2160Thr)
|
rs2043077484
|
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
|
NM_000138.5(FBN1):c.7602G>T (p.Leu2534=)
|
rs1392530685
|
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
|
NM_000169.3(GLA):c.1001G>A (p.Gly334Glu)
|
rs782690996
|
|
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
|
|
NM_000169.3(GLA):c.1057_1058del (p.Met353fs)
|
rs886044829
|
|
|
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro)
|
rs144994244
|
|
|
NM_000169.3(GLA):c.1165C>G (p.Pro389Ala)
|
rs2520850302
|
|
|
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs)
|
rs869312249
|
|
|
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)
|
rs781838005
|
|
|
NM_000169.3(GLA):c.525C>G (p.Asp175Glu)
|
rs782722844
|
|
|
NM_000169.3(GLA):c.546T>C (p.Asp182=)
|
rs2147477318
|
|
|
NM_000169.3(GLA):c.585C>T (p.Gly195=)
|
rs1928285510
|
|
|
NM_000169.3(GLA):c.605G>A (p.Cys202Tyr)
|
rs869312344
|
|
|
NM_000169.3(GLA):c.717A>G (p.Ile239Met)
|
rs1928192530
|
|
|
NM_000169.3(GLA):c.886A>G (p.Met296Val)
|
rs104894830
|
|
|
NM_000169.3(GLA):c.901C>G (p.Arg301Gly)
|
rs398123224
|
|
|
NM_000179.3(MSH6):c.-4C>T
|
rs1114167784
|
|
|
NM_000179.3(MSH6):c.1035T>A (p.Asn345Lys)
|
rs765166082
|
|
|
NM_000179.3(MSH6):c.1063G>C (p.Gly355Arg)
|
rs587778531
|
|
|
NM_000179.3(MSH6):c.1069G>A (p.Asp357Asn)
|
rs771529531
|
|
|
NM_000179.3(MSH6):c.1075A>G (p.Ser359Gly)
|
rs1553412468
|
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
|
NM_000179.3(MSH6):c.113C>T (p.Pro38Leu)
|
rs1553408211
|
|
|
NM_000179.3(MSH6):c.1143G>C (p.Glu381Asp)
|
rs1553412538
|
|
|
NM_000179.3(MSH6):c.1159G>A (p.Asp387Asn)
|
rs746532720
|
|
|
NM_000179.3(MSH6):c.115G>C (p.Gly39Arg)
|
rs751838296
|
|
|
NM_000179.3(MSH6):c.116G>C (p.Gly39Ala)
|
rs1042821
|
|
|
NM_000179.3(MSH6):c.1244A>C (p.Gln415Pro)
|
rs2104330661
|
|
|
NM_000179.3(MSH6):c.124C>G (p.Pro42Ala)
|
rs34014629
|
|
|
NM_000179.3(MSH6):c.1282A>G (p.Lys428Glu)
|
rs761822293
|
|
|
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)
|
rs750528093
|
|
|
NM_000179.3(MSH6):c.1450G>C (p.Glu484Gln)
|
rs587782706
|
|
|
NM_000179.3(MSH6):c.1513T>C (p.Tyr505His)
|
rs1558661932
|
|
|
NM_000179.3(MSH6):c.1607G>A (p.Ser536Asn)
|
rs587782352
|
|
|
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)
|
rs1064793600
|
|
|
NM_000179.3(MSH6):c.170C>T (p.Pro57Leu)
|
rs1064793657
|
|
|
NM_000179.3(MSH6):c.1712G>A (p.Gly571Asp)
|
rs863224618
|
|
|
NM_000179.3(MSH6):c.171del (p.Arg58fs)
|
rs1553408306
|
|
|
NM_000179.3(MSH6):c.1769C>T (p.Pro590Leu)
|
rs587782635
|
|
|
NM_000179.3(MSH6):c.178T>G (p.Leu60Val)
|
rs35819209
|
|
|
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.184C>A (p.Arg62Ser)
|
rs876659508
|
|
|
NM_000179.3(MSH6):c.185G>T (p.Arg62Leu)
|
rs867979237
|
|
|
NM_000179.3(MSH6):c.1865T>C (p.Ile622Thr)
|
rs2104372440
|
|
|
NM_000179.3(MSH6):c.1961T>C (p.Met654Thr)
|
rs761433489
|
|
|
NM_000179.3(MSH6):c.2075A>G (p.Lys692Arg)
|
rs975991506
|
|
|
NM_000179.3(MSH6):c.2155A>G (p.Thr719Ala)
|
rs1312413528
|
|
|
NM_000179.3(MSH6):c.2162G>A (p.Arg721Lys)
|
rs876660319
|
|
|
NM_000179.3(MSH6):c.2171C>G (p.Ala724Gly)
|
rs587779922
|
|
|
NM_000179.3(MSH6):c.2183A>C (p.Lys728Thr)
|
rs35552856
|
|
|
NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg)
|
rs35552856
|
|
|
NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile)
|
rs786204071
|
|
|
NM_000179.3(MSH6):c.2204T>C (p.Leu735Pro)
|
rs1553413574
|
|
|
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys)
|
rs587779233
|
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
|
NM_000179.3(MSH6):c.2318T>C (p.Leu773Pro)
|
rs863224623
|
|
|
NM_000179.3(MSH6):c.2398G>A (p.Val800Ile)
|
rs61748083
|
|
|
NM_000179.3(MSH6):c.2426T>C (p.Val809Ala)
|
rs775815297
|
|
|
NM_000179.3(MSH6):c.2479A>G (p.Asn827Asp)
|
rs878853716
|
|
|
NM_000179.3(MSH6):c.255C>G (p.Pro85=)
|
rs587779242
|
|
|
NM_000179.3(MSH6):c.2561_2562delinsTT (p.Lys854Ile)
|
rs587780673
|
|
|
NM_000179.3(MSH6):c.2584C>T (p.Leu862=)
|
rs1187393388
|
|
|
NM_000179.3(MSH6):c.2591G>A (p.Gly864Glu)
|
rs587781306
|
|
|
NM_000179.3(MSH6):c.2636C>T (p.Ala879Val)
|
rs1558666061
|
|
|
NM_000179.3(MSH6):c.2668G>A (p.Val890Ile)
|
rs786202628
|
|
|
NM_000179.3(MSH6):c.2873A>G (p.Gln958Arg)
|
rs876660185
|
|
|
NM_000179.3(MSH6):c.2919T>C (p.Gly973=)
|
rs1057522150
|
|
|
NM_000179.3(MSH6):c.2927G>A (p.Arg976His)
|
rs63751113
|
|
|
NM_000179.3(MSH6):c.3023C>T (p.Thr1008Ile)
|
rs1558667779
|
|
|
NM_000179.3(MSH6):c.3029C>G (p.Thr1010Ser)
|
rs768925694
|
|
|
NM_000179.3(MSH6):c.3038A>G (p.Lys1013Arg)
|
rs200837944
|
|
|
NM_000179.3(MSH6):c.3079G>C (p.Val1027Leu)
|
rs876658397
|
|
|
NM_000179.3(MSH6):c.3132C>G (p.Tyr1044Ter)
|
rs1669552731
|
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
|
NM_000179.3(MSH6):c.3172+1G>T
|
rs587779255
|
|
|
NM_000179.3(MSH6):c.3173-12C>T
|
rs1057517629
|
|
|
NM_000179.3(MSH6):c.3173-18T>A
|
rs189672273
|
|
|
NM_000179.3(MSH6):c.3173-4A>C
|
rs1437555847
|
|
|
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)
|
rs1060502901
|
|
|
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)
|
rs63750617
|
|
|
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.3259C>T (p.Pro1087Ser)
|
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.3299C>T (p.Thr1100Met)
|
rs63750442
|
|
|
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)
|
rs864622397
|
|
|
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)
|
rs35642130
|
|
|
NM_000179.3(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer)
|
rs1114167695
|
|
|
NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu)
|
rs1060502892
|
|
|
NM_000179.3(MSH6):c.3375C>T (p.Gly1125=)
|
rs765577023
|
|
|
NM_000179.3(MSH6):c.3379_3438+5del
|
rs1553331676
|
|
|
NM_000179.3(MSH6):c.3438G>C (p.Gln1146His)
|
rs1114167759
|
|
|
NM_000179.3(MSH6):c.3439-7T>G
|
rs863224622
|
|
|
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)
|
rs587779264
|
|
|
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp)
|
rs752212361
|
|
|
NM_000179.3(MSH6):c.3556+3_3556+6dup
|
rs1572739077
|
|
|
NM_000179.3(MSH6):c.3557-10T>G
|
rs2104521319
|
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
|
NM_000179.3(MSH6):c.3557-4dup
|
rs267608102
|
|
|
NM_000179.3(MSH6):c.357C>A (p.Phe119Leu)
|
rs1298565919
|
|
|
NM_000179.3(MSH6):c.3647-1G>C
|
rs587779279
|
|
|
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr)
|
rs1021631442
|
|
|
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)
|
rs863225412
|
|
|
NM_000179.3(MSH6):c.3798_3801+9del
|
rs1553333168
|
|
|
NM_000179.3(MSH6):c.3843G>A (p.Glu1281=)
|
rs864622384
|
|
|
NM_000179.3(MSH6):c.3859delinsATTA (p.Tyr1287delinsIleAsn)
|
rs1670107084
|
|
|
NM_000179.3(MSH6):c.3926_3927insGAGA (p.Glu1310fs)
|
rs1553333605
|
|
|
NM_000179.3(MSH6):c.3927_3938dup (p.Glu1310_Ile1313dup)
|
rs1670125444
|
|
|
NM_000179.3(MSH6):c.3939dup (p.Gln1314fs)
|
rs1553333633
|
|
|
NM_000179.3(MSH6):c.3947G>A (p.Gly1316Glu)
|
rs876661174
|
|
|
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs)
|
rs1558394336
|
|
|
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.3999dup (p.Arg1334fs)
|
rs863225418
|
|
|
NM_000179.3(MSH6):c.3G>T (p.Met1Ile)
|
rs876660095
|
|
|
NM_000179.3(MSH6):c.4001+15_4001+35dup
|
rs576893678
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
|
NM_000179.3(MSH6):c.4001+4_4001+8dup
|
rs587782853
|
|
|
NM_000179.3(MSH6):c.4001+5C>T
|
rs786202305
|
|
|
NM_000179.3(MSH6):c.4062_4065dup (p.Leu1356fs)
|
rs1553334056
|
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
|
NM_000179.3(MSH6):c.4083GACT[3] (p.Ter1361=)
|
rs765313977
|
|
|
NM_000179.3(MSH6):c.457+3A>G
|
rs1060502921
|
|
|
NM_000179.3(MSH6):c.458-14_458-11del
|
rs1256966115
|
|
|
NM_000179.3(MSH6):c.458-1G>A
|
rs267608035
|
|
|
NM_000179.3(MSH6):c.458-4C>G
|
rs748645037
|
|
|
NM_000179.3(MSH6):c.52A>C (p.Ser18Arg)
|
rs1553408122
|
|
|
NM_000179.3(MSH6):c.560A>G (p.Lys187Arg)
|
rs1553411459
|
|
|
NM_000179.3(MSH6):c.627+14A>G
|
rs748977698
|
|
|
NM_000179.3(MSH6):c.628-17C>A
|
rs369971640
|
|
|
NM_000179.3(MSH6):c.628-4G>C
|
rs1572719700
|
|
|
NM_000179.3(MSH6):c.63C>G (p.Asn21Lys)
|
rs876660097
|
|
|
NM_000179.3(MSH6):c.663A>T (p.Glu221Asp)
|
rs41557217
|
|
|
NM_000179.3(MSH6):c.733A>T (p.Ile245Leu)
|
rs762168786
|
|
|
NM_000179.3(MSH6):c.74C>G (p.Ala25Gly)
|
rs35462442
|
|
|
NM_000179.3(MSH6):c.74C>T (p.Ala25Val)
|
rs35462442
|
|
|
NM_000179.3(MSH6):c.76A>G (p.Arg26Gly)
|
rs757622849
|
|
|
NM_000179.3(MSH6):c.860G>A (p.Ser287Asn)
|
rs876660299
|
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
|
NM_000179.3(MSH6):c.964G>A (p.Ala322Thr)
|
rs772126419
|
|
|
NM_000179.3(MSH6):c.98G>T (p.Arg33Leu)
|
rs878853751
|
|
|
NM_000238.4(KCNH2):c.-29GGCCCGCCC[1]
|
rs754605400
|
|
|
NM_000249.4(MLH1):c.-15T>C
|
rs764112241
|
|
|
NM_000249.4(MLH1):c.1024_1038+1del
|
rs1553648201
|
|
|
NM_000249.4(MLH1):c.1039-6dup
|
rs1553650466
|
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTA
|
rs535965616
|
|
|
NM_000249.4(MLH1):c.1075A>T (p.Met359Leu)
|
rs1553650626
|
|
|
NM_000249.4(MLH1):c.1136A>C (p.Tyr379Ser)
|
rs143009528
|
|
|
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys)
|
rs143009528
|
|
|
NM_000249.4(MLH1):c.116+4C>A
|
rs1057523910
|
|
|
NM_000249.4(MLH1):c.117-3C>T
|
rs770919400
|
|
|
NM_000249.4(MLH1):c.1178T>C (p.Leu393Pro)
|
rs786203413
|
|
|
NM_000249.4(MLH1):c.1185A>G (p.Ala395=)
|
rs878853774
|
|
|
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.1331A>G (p.Asn444Ser)
|
rs763189331
|
|
|
NM_000249.4(MLH1):c.1409+1G>A
|
rs267607825
|
|
|
NM_000249.4(MLH1):c.1409+1G>T
|
rs267607825
|
|
|
NM_000249.4(MLH1):c.1410-4G>T
|
rs1057520517
|
|
|
NM_000249.4(MLH1):c.1410-5T>C
|
rs1320434721
|
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
|
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)
|
rs63750226
|
|
|
NM_000249.4(MLH1):c.1559-3C>T
|
rs267607830
|
|
|
NM_000249.4(MLH1):c.1569G>T (p.Glu523Asp)
|
rs63751680
|
|
|
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)
|
rs587779953
|
|
|
NM_000249.4(MLH1):c.1652A>C (p.Asn551Thr)
|
rs63750271
|
|
|
NM_000249.4(MLH1):c.1667+1G>A
|
rs1434898623
|
|
|
NM_000249.4(MLH1):c.1668-1G>A
|
rs267607845
|
|
|
NM_000249.4(MLH1):c.1668-2A>C
|
rs1559578422
|
|
|
NM_000249.4(MLH1):c.1692C>A (p.Leu564=)
|
rs2125957563
|
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
|
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser)
|
rs587778952
|
|
|
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)
|
rs63750850
|
|
|
NM_000249.4(MLH1):c.188A>T (p.Asp63Val)
|
rs1064795693
|
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
|
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)
|
rs63750610
|
|
|
NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu)
|
rs63749900
|
|
|
NM_000249.4(MLH1):c.1978C>T (p.Leu660=)
|
rs752427924
|
|
|
NM_000249.4(MLH1):c.1989+1G>T
|
rs267607879
|
|
|
NM_000249.4(MLH1):c.1989+5G>A
|
rs267607878
|
|
|
NM_000249.4(MLH1):c.1990-1G>C
|
rs267607884
|
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
|
NM_000249.4(MLH1):c.2041G>C (p.Ala681Pro)
|
rs63750217
|
|
|
NM_000249.4(MLH1):c.2103+3A>G
|
rs587778976
|
|
|
NM_000249.4(MLH1):c.2131T>C (p.Ser711Pro)
|
rs587781342
|
|
|
NM_000249.4(MLH1):c.2155A>G (p.Ile719Val)
|
rs754225520
|
|
|
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)
|
rs587778985
|
|
|
NM_000249.4(MLH1):c.2173C>T (p.Arg725Cys)
|
rs138584384
|
|
|
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)
|
rs63750005
|
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
|
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser)
|
rs267607725
|
|
|
NM_000249.4(MLH1):c.344T>A (p.Ile115Asn)
|
rs764120517
|
|
|
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)
|
rs63750781
|
|
|
NM_000249.4(MLH1):c.381-1G>C
|
rs267607744
|
|
|
NM_000249.4(MLH1):c.3G>A (p.Met1Ile)
|
rs72481822
|
|
|
NM_000249.4(MLH1):c.439G>C (p.Gly147Arg)
|
rs267607747
|
|
|
NM_000249.4(MLH1):c.454-13A>G
|
rs267607749
|
|
|
NM_000249.4(MLH1):c.478G>T (p.Ala160Ser)
|
rs876659332
|
|
|
NM_000249.4(MLH1):c.492A>C (p.Lys164Asn)
|
rs765014361
|
|
|
NM_000249.4(MLH1):c.589-9_589-6del
|
rs587779026
|
|
|
NM_000249.4(MLH1):c.654_655inv (p.Ile219Val)
|
|
|
|
NM_000249.4(MLH1):c.677+1G>A
|
rs267607778
|
|
|
NM_000249.4(MLH1):c.677+1G>C
|
rs267607778
|
|
|
NM_000249.4(MLH1):c.677+5G>A
|
rs587779034
|
|
|
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)
|
rs63751711
|
|
|
NM_000249.4(MLH1):c.678-2A>G
|
rs587779035
|
|
|
NM_000249.4(MLH1):c.678-5A>G
|
rs1553645100
|
|
|
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp)
|
rs63750555
|
|
|
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro)
|
rs63750948
|
|
|
NM_000249.4(MLH1):c.783C>T (p.Phe261=)
|
rs768119795
|
|
|
NM_000249.4(MLH1):c.791A>T (p.His264Leu)
|
rs63751664
|
|
|
NM_000249.4(MLH1):c.7T>C (p.Phe3Leu)
|
rs878853790
|
|
|
NM_000249.4(MLH1):c.882C>G (p.Leu294=)
|
rs63751707
|
|
|
NM_000249.4(MLH1):c.882C>T (p.Leu294=)
|
rs63751707
|
|
|
NM_000249.4(MLH1):c.884+1G>A
|
rs1553646764
|
|
|
NM_000249.4(MLH1):c.884+3A>G
|
rs267607803
|
|
|
NM_000249.4(MLH1):c.885-21TC[2]
|
rs267607804
|
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
|
NM_000249.4(MLH1):c.996C>T (p.Ser332=)
|
rs775167683
|
|
|
NM_000251.3(MSH2):c.-20G>C
|
rs1672225649
|
|
|
NM_000251.3(MSH2):c.-5T>G
|
rs1553348652
|
|
|
NM_000251.3(MSH2):c.-82G>C
|
rs866991159
|
|
|
NM_000251.3(MSH2):c.1009C>G (p.Gln337Glu)
|
rs63750778
|
|
|
NM_000251.3(MSH2):c.1029C>G (p.Asn343Lys)
|
rs1060501995
|
|
|
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu)
|
rs587782374
|
|
|
NM_000251.3(MSH2):c.103C>G (p.Arg35Gly)
|
rs1060502034
|
|
|
NM_000251.3(MSH2):c.1041G>C (p.Lys347Asn)
|
rs1302487476
|
|
|
NM_000251.3(MSH2):c.1052T>C (p.Met351Thr)
|
rs1553353246
|
|
|
NM_000251.3(MSH2):c.1057A>C (p.Lys353Gln)
|
rs2104252491
|
|
|
NM_000251.3(MSH2):c.1062C>T (p.Asn354=)
|
rs876659861
|
|
|
NM_000251.3(MSH2):c.1074G>C (p.Glu358Asp)
|
rs1477257356
|
|
|
NM_000251.3(MSH2):c.1077-1G>C
|
rs267607944
|
|
|
NM_000251.3(MSH2):c.1082A>G (p.Asn361Ser)
|
rs587779072
|
|
|
NM_000251.3(MSH2):c.1094C>G (p.Ala365Gly)
|
rs1242235025
|
|
|
NM_000251.3(MSH2):c.10C>T (p.Gln4Ter)
|
rs878853797
|
|
|
NM_000251.3(MSH2):c.1103A>G (p.Glu368Gly)
|
rs1553356552
|
|
|
NM_000251.3(MSH2):c.1103A>T (p.Glu368Val)
|
rs1553356552
|
|
|
NM_000251.3(MSH2):c.1191A>T (p.Gln397His)
|
rs768694189
|
|
|
NM_000251.3(MSH2):c.1193C>T (p.Ala398Val)
|
rs1060502019
|
|
|
NM_000251.3(MSH2):c.11A>C (p.Gln4Pro)
|
rs754562075
|
|
|
NM_000251.3(MSH2):c.1204C>G (p.Gln402Glu)
|
rs63751412
|
|
|
NM_000251.3(MSH2):c.1208A>G (p.Asp403Gly)
|
rs1344783415
|
|
|
NM_000251.3(MSH2):c.1217G>T (p.Arg406Leu)
|
rs146567853
|
|
|
NM_000251.3(MSH2):c.1225C>G (p.Gln409Glu)
|
rs151244108
|
|
|
NM_000251.3(MSH2):c.1243C>T (p.Pro415Ser)
|
rs35717997
|
|
|
NM_000251.3(MSH2):c.1250T>G (p.Val417Gly)
|
rs876659846
|
|
|
NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)
|
rs730881766
|
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
|
NM_000251.3(MSH2):c.1281A>T (p.Lys427Asn)
|
rs1553361147
|
|
|
NM_000251.3(MSH2):c.1282C>G (p.His428Asp)
|
rs1421473851
|
|
|
NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe)
|
rs17217723
|
|
|
NM_000251.3(MSH2):c.1303G>C (p.Val435Leu)
|
rs876658240
|
|
|
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del)
|
rs587779082
|
|
|
NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro)
|
rs587779084
|
|
|
NM_000251.3(MSH2):c.1321A>T (p.Thr441Ser)
|
rs587779086
|
|
|
NM_000251.3(MSH2):c.1322C>T (p.Thr441Ile)
|
rs1553361210
|
|
|
NM_000251.3(MSH2):c.1331G>A (p.Arg444His)
|
rs557339938
|
|
|
NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys)
|
rs267607954
|
|
|
NM_000251.3(MSH2):c.1367C>T (p.Thr456Ile)
|
rs777963115
|
|
|
NM_000251.3(MSH2):c.1386+2T>C
|
rs1675076969
|
|
|
NM_000251.3(MSH2):c.1387-5T>C
|
rs757458333
|
|
|
NM_000251.3(MSH2):c.1387G>A (p.Val463Met)
|
rs1064793825
|
|
|
NM_000251.3(MSH2):c.1389G>A (p.Val463=)
|
rs1553365702
|
|
|
NM_000251.3(MSH2):c.1394A>G (p.Asn465Ser)
|
rs1487094949
|
|
|
NM_000251.3(MSH2):c.1396C>T (p.His466Tyr)
|
rs876658457
|
|
|
NM_000251.3(MSH2):c.1405C>G (p.Leu469Val)
|
rs780702096
|
|
|
NM_000251.3(MSH2):c.1408G>T (p.Val470Leu)
|
rs1391167729
|
|
|
NM_000251.3(MSH2):c.1413A>C (p.Lys471Asn)
|
rs745874745
|
|
|
NM_000251.3(MSH2):c.1429A>T (p.Asn477Tyr)
|
rs587781346
|
|
|
NM_000251.3(MSH2):c.145G>A (p.Asp49Asn)
|
rs1488461123
|
|
|
NM_000251.3(MSH2):c.1474A>T (p.Met492Leu)
|
rs774419666
|
|
|
NM_000251.3(MSH2):c.1493G>A (p.Ser498Asn)
|
rs1553365810
|
|
|
NM_000251.3(MSH2):c.14C>G (p.Pro5Arg)
|
rs56170584
|
|
|
NM_000251.3(MSH2):c.1507C>G (p.Leu503Val)
|
rs1553365825
|
|
|
NM_000251.3(MSH2):c.1530G>T (p.Gln510His)
|
rs587782355
|
|
|
NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn)
|
rs373564353
|
|
|
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile)
|
rs373564353
|
|
|
NM_000251.3(MSH2):c.1549G>A (p.Ala517Thr)
|
rs1553366545
|
|
|
NM_000251.3(MSH2):c.154C>A (p.Leu52Met)
|
rs786202335
|
|
|
NM_000251.3(MSH2):c.1550C>T (p.Ala517Val)
|
rs1060501997
|
|
|
NM_000251.3(MSH2):c.1555T>C (p.Phe519Leu)
|
rs1371291280
|
|
|
NM_000251.3(MSH2):c.1557T>G (p.Phe519Leu)
|
rs1573553312
|
|
|
NM_000251.3(MSH2):c.1561T>A (p.Tyr521Asn)
|
rs1553366562
|
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
|
NM_000251.3(MSH2):c.1577C>T (p.Thr526Ile)
|
rs1204369578
|
|
|
NM_000251.3(MSH2):c.157G>A (p.Ala53Thr)
|
rs755931648
|
|
|
NM_000251.3(MSH2):c.1589A>C (p.Glu530Ala)
|
rs1666901220
|
|
|
NM_000251.3(MSH2):c.1595T>C (p.Val532Ala)
|
rs754778750
|
|
|
NM_000251.3(MSH2):c.160G>A (p.Ala54Thr)
|
rs749212640
|
|
|
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)
|
rs749212640
|
|
|
NM_000251.3(MSH2):c.1610A>G (p.Lys537Arg)
|
rs747074044
|
|
|
NM_000251.3(MSH2):c.1615T>C (p.Phe539Leu)
|
rs1558511106
|
|
|
NM_000251.3(MSH2):c.1617T>A (p.Phe539Leu)
|
rs730881759
|
|
|
NM_000251.3(MSH2):c.1619G>A (p.Ser540Asn)
|
rs1553366622
|
|
|
NM_000251.3(MSH2):c.161C>T (p.Ala54Val)
|
rs768661914
|
|
|
NM_000251.3(MSH2):c.1632C>G (p.Ile544Met)
|
rs746286801
|
|
|
NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys)
|
rs63750538
|
|
|
NM_000251.3(MSH2):c.1650A>C (p.Lys550Asn)
|
rs1553366663
|
|
|
NM_000251.3(MSH2):c.1658A>G (p.Asn553Ser)
|
rs2104185998
|
|
|
NM_000251.3(MSH2):c.1659C>T (p.Asn553=)
|
rs869312796
|
|
|
NM_000251.3(MSH2):c.1661+5G>T
|
rs267607972
|
|
|
NM_000251.3(MSH2):c.1662-18T>C
|
rs376235435
|
|
|
NM_000251.3(MSH2):c.1662-4G>A
|
rs1456908037
|
|
|
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)
|
rs587779102
|
|
|
NM_000251.3(MSH2):c.166G>C (p.Glu56Gln)
|
rs587779102
|
|
|
NM_000251.3(MSH2):c.1670C>T (p.Thr557Ile)
|
rs139920308
|
|
|
NM_000251.3(MSH2):c.1673C>T (p.Ser558Phe)
|
rs1553367602
|
|
|
NM_000251.3(MSH2):c.1677A>C (p.Leu559Phe)
|
rs1558514500
|
|
|
NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys)
|
rs63751054
|
|
|
NM_000251.3(MSH2):c.1703C>G (p.Thr568Arg)
|
rs1285862035
|
|
|
NM_000251.3(MSH2):c.1717G>A (p.Ala573Thr)
|
rs200766962
|
|
|
NM_000251.3(MSH2):c.1741A>G (p.Ile581Val)
|
rs761859271
|
|
|
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)
|
rs201118107
|
|
|
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.1759+1G>A
|
rs587779108
|
|
|
NM_000251.3(MSH2):c.1760-1G>A
|
rs587779110
|
|
|
NM_000251.3(MSH2):c.1760-3C>G
|
rs786202843
|
|
|
NM_000251.3(MSH2):c.1765G>A (p.Val589Ile)
|
rs1064793981
|
|
|
NM_000251.3(MSH2):c.1770A>C (p.Glu590Asp)
|
rs760619442
|
|
|
NM_000251.3(MSH2):c.1771C>A (p.Pro591Thr)
|
rs951988481
|
|
|
NM_000251.3(MSH2):c.1777C>G (p.Gln593Glu)
|
rs63750200
|
|
|
NM_000251.3(MSH2):c.1783C>T (p.Leu595Phe)
|
rs1553368514
|
|
|
NM_000251.3(MSH2):c.1789G>A (p.Asp597Asn)
|
rs765442101
|
|
|
NM_000251.3(MSH2):c.1792G>C (p.Val598Leu)
|
rs778152746
|
|
|
NM_000251.3(MSH2):c.1795T>G (p.Leu599Val)
|
rs112457919
|
|
|
NM_000251.3(MSH2):c.1798G>T (p.Ala600Ser)
|
rs587778526
|
|
|
NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)
|
rs779447213
|
|
|
NM_000251.3(MSH2):c.1803G>C (p.Gln601His)
|
rs1553368556
|
|
|
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro)
|
rs1553368561
|
|
|
NM_000251.3(MSH2):c.1807G>C (p.Asp603His)
|
rs63750657
|
|
|
NM_000251.3(MSH2):c.1808A>T (p.Asp603Val)
|
rs267607985
|
|
|
NM_000251.3(MSH2):c.1810G>A (p.Ala604Thr)
|
rs1553368568
|
|
|
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile)
|
rs730881777
|
|
|
NM_000251.3(MSH2):c.1813G>C (p.Val605Leu)
|
rs730881777
|
|
|
NM_000251.3(MSH2):c.1814T>C (p.Val605Ala)
|
rs1064794881
|
|
|
NM_000251.3(MSH2):c.1818_1877del (p.Ser607_Glu626del)
|
rs1553368576
|
|
|
NM_000251.3(MSH2):c.1821C>G (p.Ser607Arg)
|
rs1558517928
|
|
|
NM_000251.3(MSH2):c.1828C>A (p.His610Asn)
|
rs267607980
|
|
|
NM_000251.3(MSH2):c.1828C>T (p.His610Tyr)
|
rs267607980
|
|
|
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)
|
rs587779113
|
|
|
NM_000251.3(MSH2):c.182A>T (p.Gln61Leu)
|
rs587779113
|
|
|
NM_000251.3(MSH2):c.1830C>A (p.His610Gln)
|
rs766326295
|
|
|
NM_000251.3(MSH2):c.1830C>G (p.His610Gln)
|
rs766326295
|
|
|
NM_000251.3(MSH2):c.1831G>T (p.Val611Leu)
|
rs369385048
|
|
|
NM_000251.3(MSH2):c.183G>C (p.Gln61His)
|
rs751082926
|
|
|
NM_000251.3(MSH2):c.1843G>A (p.Ala615Thr)
|
rs1223047169
|
|
|
NM_000251.3(MSH2):c.1846C>A (p.Pro616Thr)
|
rs587782627
|
|
|
NM_000251.3(MSH2):c.1849G>C (p.Val617Leu)
|
rs1224364754
|
|
|
NM_000251.3(MSH2):c.184G>C (p.Gly62Arg)
|
rs767140240
|
|
|
NM_000251.3(MSH2):c.1868C>T (p.Ala623Val)
|
rs781698416
|
|
|
NM_000251.3(MSH2):c.1871T>G (p.Ile624Ser)
|
rs1114167870
|
|
|
NM_000251.3(MSH2):c.187G>T (p.Val63Leu)
|
rs1553348889
|
|
|
NM_000251.3(MSH2):c.1882G>C (p.Gly628Arg)
|
rs371776176
|
|
|
NM_000251.3(MSH2):c.1890A>T (p.Gly630=)
|
rs778523544
|
|
|
NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)
|
rs1361816581
|
|
|
NM_000251.3(MSH2):c.1893A>T (p.Arg631Ser)
|
rs747805096
|
|
|
NM_000251.3(MSH2):c.190A>G (p.Ile64Val)
|
rs1166747167
|
|
|
NM_000251.3(MSH2):c.1910C>G (p.Ser637Cys)
|
rs1064795992
|
|
|
NM_000251.3(MSH2):c.1935A>C (p.Gln645His)
|
rs587780684
|
|
|
NM_000251.3(MSH2):c.193A>T (p.Lys65Ter)
|
rs1465016316
|
|
|
NM_000251.3(MSH2):c.1942A>G (p.Ile648Val)
|
rs373475495
|
|
|
NM_000251.3(MSH2):c.1945G>A (p.Ala649Thr)
|
rs786201822
|
|
|
NM_000251.3(MSH2):c.1946C>T (p.Ala649Val)
|
rs876659816
|
|
|
NM_000251.3(MSH2):c.1951A>G (p.Ile651Val)
|
rs878853806
|
|
|
NM_000251.3(MSH2):c.1967A>C (p.Tyr656Ser)
|
rs185356145
|
|
|
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)
|
rs1085308057
|
|
|
NM_000251.3(MSH2):c.1981A>G (p.Lys661Glu)
|
rs1553368707
|
|
|
NM_000251.3(MSH2):c.1986G>C (p.Gln662His)
|
rs587780685
|
|
|
NM_000251.3(MSH2):c.1987A>T (p.Met663Leu)
|
rs752241362
|
|
|
NM_000251.3(MSH2):c.1989G>A (p.Met663Ile)
|
rs863224640
|
|
|
NM_000251.3(MSH2):c.1993C>T (p.His665Tyr)
|
rs1573567600
|
|
|
NM_000251.3(MSH2):c.19G>T (p.Glu7Ter)
|
rs375561490
|
|
|
NM_000251.3(MSH2):c.2005+8dup
|
rs267607992
|
|
|
NM_000251.3(MSH2):c.2006-1G>T
|
rs267607988
|
|
|
NM_000251.3(MSH2):c.200T>A (p.Met67Lys)
|
rs876660001
|
|
|
NM_000251.3(MSH2):c.2012A>G (p.Asn671Ser)
|
rs1558519505
|
|
|
NM_000251.3(MSH2):c.2029A>G (p.Thr677Ala)
|
rs1553369013
|
|
|
NM_000251.3(MSH2):c.2043A>T (p.Gln681His)
|
rs730881763
|
|
|
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)
|
rs587779133
|
|
|
NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr)
|
rs914610419
|
|
|
NM_000251.3(MSH2):c.206C>G (p.Pro69Arg)
|
rs983555044
|
|
|
NM_000251.3(MSH2):c.2072T>C (p.Ile691Thr)
|
rs754824872
|
|
|
NM_000251.3(MSH2):c.2074G>A (p.Gly692Arg)
|
rs63750232
|
|
|
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg)
|
rs63750232
|
|
|
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)
|
rs63751432
|
|
|
NM_000251.3(MSH2):c.208G>A (p.Ala70Thr)
|
rs587778522
|
|
|
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)
|
rs63750398
|
|
|
NM_000251.3(MSH2):c.20A>G (p.Glu7Gly)
|
rs530071578
|
|
|
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu)
|
rs587779137
|
|
|
NM_000251.3(MSH2):c.2108C>G (p.Ser703Cys)
|
rs267607999
|
|
|
NM_000251.3(MSH2):c.211+3G>T
|
rs778940305
|
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
|
NM_000251.3(MSH2):c.212-4dup
|
rs746333570
|
|
|
NM_000251.3(MSH2):c.212-9T>C
|
rs1573436092
|
|
|
NM_000251.3(MSH2):c.2120G>C (p.Cys707Ser)
|
rs373226409
|
|
|
NM_000251.3(MSH2):c.212G>A (p.Gly71Glu)
|
rs1064793802
|
|
|
NM_000251.3(MSH2):c.214G>A (p.Ala72Thr)
|
rs1558456993
|
|
|
NM_000251.3(MSH2):c.2152C>G (p.Gln718Glu)
|
rs587779139
|
|
|
NM_000251.3(MSH2):c.2201C>G (p.Ser734Cys)
|
rs1553369204
|
|
|
NM_000251.3(MSH2):c.2210+11_2210+22del
|
rs730881782
|
|
|
NM_000251.3(MSH2):c.2219C>G (p.Thr740Ser)
|
rs1553369628
|
|
|
NM_000251.3(MSH2):c.2225A>T (p.Asp742Val)
|
rs1420354168
|
|
|
NM_000251.3(MSH2):c.2239A>G (p.Ile747Val)
|
rs1553369652
|
|
|
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg)
|
rs63751119
|
|
|
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala)
|
rs757268664
|
|
|
NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)
|
rs757268664
|
|
|
NM_000251.3(MSH2):c.2266A>T (p.Thr756Ser)
|
rs750646335
|
|
|
NM_000251.3(MSH2):c.2268C>G (p.Thr756=)
|
rs1404389752
|
|
|
NM_000251.3(MSH2):c.2272G>A (p.Asp758Asn)
|
rs876658254
|
|
|
NM_000251.3(MSH2):c.2294C>T (p.Ala765Val)
|
rs1261458082
|
|
|
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)
|
rs878853811
|
|
|
NM_000251.3(MSH2):c.2335A>G (p.Met779Val)
|
rs1114167843
|
|
|
NM_000251.3(MSH2):c.2354A>C (p.His785Pro)
|
rs200252727
|
|
|
NM_000251.3(MSH2):c.2354A>G (p.His785Arg)
|
rs200252727
|
|
|
NM_000251.3(MSH2):c.2365G>A (p.Ala789Thr)
|
rs1553369769
|
|
|
NM_000251.3(MSH2):c.2366C>G (p.Ala789Gly)
|
rs876660292
|
|
|
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser)
|
rs587782891
|
|
|
NM_000251.3(MSH2):c.2380A>C (p.Ile794Leu)
|
rs1553369778
|
|
|
NM_000251.3(MSH2):c.2380A>G (p.Ile794Val)
|
rs1553369778
|
|
|
NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser)
|
rs786204073
|
|
|
NM_000251.3(MSH2):c.23C>G (p.Thr8Arg)
|
rs17217716
|
|
|
NM_000251.3(MSH2):c.2402A>G (p.His801Arg)
|
rs1114167875
|
|
|
NM_000251.3(MSH2):c.242G>C (p.Ser81Thr)
|
rs1064793491
|
|
|
NM_000251.3(MSH2):c.242G>T (p.Ser81Ile)
|
rs1064793491
|
|
|
NM_000251.3(MSH2):c.2435C>G (p.Thr812Ser)
|
rs1553369826
|
|
|
NM_000251.3(MSH2):c.2439G>C (p.Met813Ile)
|
rs587781678
|
|
|
NM_000251.3(MSH2):c.2457A>G (p.Lys819=)
|
rs774152293
|
|
|
NM_000251.3(MSH2):c.2459-3T>A
|
rs587781988
|
|
|
NM_000251.3(MSH2):c.2461G>A (p.Val821Ile)
|
rs1573578366
|
|
|
NM_000251.3(MSH2):c.2462T>C (p.Val821Ala)
|
rs1573578373
|
|
|
NM_000251.3(MSH2):c.247A>C (p.Met83Leu)
|
rs766196837
|
|
|
NM_000251.3(MSH2):c.247A>G (p.Met83Val)
|
rs766196837
|
|
|
NM_000251.3(MSH2):c.2491G>T (p.Ala831Ser)
|
rs1573578511
|
|
|
NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp)
|
rs41295296
|
|
|
NM_000251.3(MSH2):c.2506T>A (p.Phe836Ile)
|
rs1553370345
|
|
|
NM_000251.3(MSH2):c.2509C>T (p.Pro837Ser)
|
rs1198289499
|
|
|
NM_000251.3(MSH2):c.250A>T (p.Asn84Tyr)
|
rs1573436418
|
|
|
NM_000251.3(MSH2):c.2522T>C (p.Ile841Thr)
|
rs1275767178
|
|
|
NM_000251.3(MSH2):c.2525A>G (p.Glu842Gly)
|
rs373393954
|
|
|
NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly)
|
rs63750797
|
|
|
NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys)
|
rs587779150
|
|
|
NM_000251.3(MSH2):c.2575G>A (p.Glu859Lys)
|
rs63749830
|
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
|
NM_000251.3(MSH2):c.2587T>C (p.Tyr863His)
|
rs1573579032
|
|
|
NM_000251.3(MSH2):c.2588A>G (p.Tyr863Cys)
|
rs2104440046
|
|
|
NM_000251.3(MSH2):c.2596A>T (p.Met866Leu)
|
rs1553370453
|
|
|
NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr)
|
rs587781447
|
|
|
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg)
|
rs587780686
|
|
|
NM_000251.3(MSH2):c.2632G>C (p.Glu878Gln)
|
rs749543152
|
|
|
NM_000251.3(MSH2):c.2634+4T>C
|
rs1553370486
|
|
|
NM_000251.3(MSH2):c.2634+5G>A
|
rs267608017
|
|
|
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp)
|
rs63751624
|
|
|
NM_000251.3(MSH2):c.263T>C (p.Phe88Ser)
|
rs1672553516
|
|
|
NM_000251.3(MSH2):c.265G>C (p.Val89Leu)
|
rs587782586
|
|
|
NM_000251.3(MSH2):c.2680A>T (p.Met894Leu)
|
rs1558526023
|
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
|
NM_000251.3(MSH2):c.2681T>C (p.Met894Thr)
|
rs1558526026
|
|
|
NM_000251.3(MSH2):c.2684C>G (p.Pro895Arg)
|
rs786203553
|
|
|
NM_000251.3(MSH2):c.2684C>T (p.Pro895Leu)
|
rs786203553
|
|
|
NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala)
|
rs1060502037
|
|
|
NM_000251.3(MSH2):c.2697G>T (p.Met899Ile)
|
rs878853813
|
|
|
NM_000251.3(MSH2):c.269A>G (p.Lys90Arg)
|
rs2103978884
|
|
|
NM_000251.3(MSH2):c.2708A>G (p.Asn903Ser)
|
rs876658389
|
|
|
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)
|
rs267608022
|
|
|
NM_000251.3(MSH2):c.2717T>G (p.Ile906Arg)
|
rs587780687
|
|
|
NM_000251.3(MSH2):c.2721G>T (p.Lys907Asn)
|
rs1553370869
|
|
|
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile)
|
rs34319539
|
|
|
NM_000251.3(MSH2):c.272A>C (p.Asp91Ala)
|
rs876660914
|
|
|
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)
|
rs267607919
|
|
|
NM_000251.3(MSH2):c.2744T>C (p.Val915Ala)
|
rs1399941088
|
|
|
NM_000251.3(MSH2):c.2749G>A (p.Ala917Thr)
|
rs200581817
|
|
|
NM_000251.3(MSH2):c.2762G>A (p.Ser921Asn)
|
rs1558526183
|
|
|
NM_000251.3(MSH2):c.2771A>G (p.Asn924Ser)
|
rs779846182
|
|
|
NM_000251.3(MSH2):c.2779A>G (p.Ile927Val)
|
rs1553370905
|
|
|
NM_000251.3(MSH2):c.2786G>T (p.Arg929Leu)
|
rs587779967
|
|
|
NM_000251.3(MSH2):c.2798C>G (p.Thr933Ser)
|
rs587779968
|
|
|
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)
|
rs587779969
|
|
|
NM_000251.3(MSH2):c.28C>T (p.Gln10Ter)
|
rs63751099
|
|
|
NM_000251.3(MSH2):c.30G>T (p.Gln10His)
|
rs786203228
|
|
|
NM_000251.3(MSH2):c.317G>C (p.Arg106Thr)
|
rs41295286
|
|
|
NM_000251.3(MSH2):c.320C>G (p.Ala107Gly)
|
rs876658935
|
|
|
NM_000251.3(MSH2):c.323G>T (p.Gly108Val)
|
rs1183145967
|
|
|
NM_000251.3(MSH2):c.326A>G (p.Asn109Ser)
|
rs749545338
|
|
|
NM_000251.3(MSH2):c.338A>G (p.Lys113Arg)
|
rs1672561938
|
|
|
NM_000251.3(MSH2):c.34G>C (p.Glu12Gln)
|
rs917968387
|
|
|
NM_000251.3(MSH2):c.366+1G>A
|
rs267607924
|
|
|
NM_000251.3(MSH2):c.367-2A>G
|
rs2104016532
|
|
|
NM_000251.3(MSH2):c.36G>C (p.Glu12Asp)
|
rs1558451303
|
|
|
NM_000251.3(MSH2):c.38G>C (p.Ser13Thr)
|
rs63749907
|
|
|
NM_000251.3(MSH2):c.398A>G (p.Asp133Gly)
|
rs984353312
|
|
|
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.415A>G (p.Asn139Asp)
|
rs1672659022
|
|
|
NM_000251.3(MSH2):c.421A>G (p.Met141Val)
|
rs193922374
|
|
|
NM_000251.3(MSH2):c.423G>A (p.Met141Ile)
|
rs1672660061
|
|
|
NM_000251.3(MSH2):c.430T>G (p.Ser144Ala)
|
rs1672660930
|
|
|
NM_000251.3(MSH2):c.431C>G (p.Ser144Cys)
|
rs878853818
|
|
|
NM_000251.3(MSH2):c.433A>G (p.Ile145Val)
|
rs876659264
|
|
|
NM_000251.3(MSH2):c.460G>A (p.Ala154Thr)
|
rs759712763
|
|
|
NM_000251.3(MSH2):c.464T>C (p.Val155Ala)
|
rs876658188
|
|
|
NM_000251.3(MSH2):c.464T>G (p.Val155Gly)
|
rs876658188
|
|
|
NM_000251.3(MSH2):c.47A>C (p.Glu16Ala)
|
rs745771647
|
|
|
NM_000251.3(MSH2):c.488T>A (p.Val163Asp)
|
rs63750214
|
|
|
NM_000251.3(MSH2):c.488T>C (p.Val163Ala)
|
rs63750214
|
|
|
NM_000251.3(MSH2):c.496G>A (p.Val166Met)
|
rs1672668358
|
|
|
NM_000251.3(MSH2):c.49G>C (p.Val17Leu)
|
rs63750966
|
|
|
NM_000251.3(MSH2):c.506T>C (p.Ile169Thr)
|
rs1060502011
|
|
|
NM_000251.3(MSH2):c.517C>G (p.Leu173Val)
|
rs1176822890
|
|
|
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)
|
rs63751291
|
|
|
NM_000251.3(MSH2):c.539A>G (p.Asp180Gly)
|
rs1159514085
|
|
|
NM_000251.3(MSH2):c.564G>C (p.Glu188Asp)
|
rs1553350883
|
|
|
NM_000251.3(MSH2):c.568C>G (p.Leu190Val)
|
rs763459034
|
|
|
NM_000251.3(MSH2):c.571C>T (p.Leu191Phe)
|
rs1553350898
|
|
|
NM_000251.3(MSH2):c.580A>G (p.Ile194Val)
|
rs1672676776
|
|
|
NM_000251.3(MSH2):c.589A>G (p.Lys197Glu)
|
rs778573140
|
|
|
NM_000251.3(MSH2):c.605C>G (p.Pro202Arg)
|
rs1060502002
|
|
|
NM_000251.3(MSH2):c.617C>G (p.Thr206Ser)
|
rs876658623
|
|
|
NM_000251.3(MSH2):c.619G>A (p.Ala207Thr)
|
rs63750913
|
|
|
NM_000251.3(MSH2):c.62_63delinsTT (p.Arg21Leu)
|
rs1060501996
|
|
|
NM_000251.3(MSH2):c.638T>A (p.Leu213Gln)
|
rs1553350974
|
|
|
NM_000251.3(MSH2):c.640A>G (p.Arg214Gly)
|
rs1553350980
|
|
|
NM_000251.3(MSH2):c.646-3T>G
|
rs267607930
|
|
|
NM_000251.3(MSH2):c.670A>G (p.Ile224Val)
|
rs2104100358
|
|
|
NM_000251.3(MSH2):c.672C>G (p.Ile224Met)
|
rs587779171
|
|
|
NM_000251.3(MSH2):c.679A>G (p.Arg227Gly)
|
rs756809051
|
|
|
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)
|
rs372619120
|
|
|
NM_000251.3(MSH2):c.698C>G (p.Ser233Cys)
|
rs587781724
|
|
|
NM_000251.3(MSH2):c.700A>T (p.Thr234Ser)
|
rs1212577306
|
|
|
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)
|
rs587779976
|
|
|
NM_000251.3(MSH2):c.712T>G (p.Tyr238Asp)
|
rs1060501987
|
|
|
NM_000251.3(MSH2):c.721C>T (p.Leu241Phe)
|
rs1410859610
|
|
|
NM_000251.3(MSH2):c.726C>G (p.Asn242Lys)
|
rs748427458
|
|
|
NM_000251.3(MSH2):c.736A>C (p.Lys246Gln)
|
rs63750881
|
|
|
NM_000251.3(MSH2):c.740G>A (p.Gly247Asp)
|
|
|
|
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)
|
rs1064794704
|
|
|
NM_000251.3(MSH2):c.755A>C (p.Gln252Pro)
|
rs370906735
|
|
|
NM_000251.3(MSH2):c.756G>C (p.Gln252His)
|
rs763639520
|
|
|
NM_000251.3(MSH2):c.761A>G (p.Asn254Ser)
|
rs1558462016
|
|
|
NM_000251.3(MSH2):c.770T>C (p.Val257Ala)
|
rs2104110022
|
|
|
NM_000251.3(MSH2):c.776C>T (p.Pro259Leu)
|
rs866818044
|
|
|
NM_000251.3(MSH2):c.783G>A (p.Met261Ile)
|
rs1226778440
|
|
|
NM_000251.3(MSH2):c.786G>C (p.Glu262Asp)
|
rs754820584
|
|
|
NM_000251.3(MSH2):c.786G>T (p.Glu262Asp)
|
rs754820584
|
|
|
NM_000251.3(MSH2):c.789T>G (p.Asn263Lys)
|
rs878853823
|
|
|
NM_000251.3(MSH2):c.793-1G>A
|
rs863225397
|
|
|
NM_000251.3(MSH2):c.793G>A (p.Val265Ile)
|
rs1553352377
|
|
|
NM_000251.3(MSH2):c.793G>T (p.Val265Phe)
|
rs1553352377
|
|
|
NM_000251.3(MSH2):c.79C>A (p.Pro27Thr)
|
rs878853826
|
|
|
NM_000251.3(MSH2):c.7G>A (p.Val3Met)
|
rs1257347271
|
|
|
NM_000251.3(MSH2):c.7G>T (p.Val3Leu)
|
rs1257347271
|
|
|
NM_000251.3(MSH2):c.812C>G (p.Ser271Cys)
|
rs139891783
|
|
|
NM_000251.3(MSH2):c.822C>G (p.Ile274Met)
|
rs781569442
|
|
|
NM_000251.3(MSH2):c.824A>G (p.Lys275Arg)
|
rs1553352435
|
|
|
NM_000251.3(MSH2):c.860G>A (p.Gly287Glu)
|
rs587782567
|
|
|
NM_000251.3(MSH2):c.865T>C (p.Phe289Leu)
|
rs1060502003
|
|
|
NM_000251.3(MSH2):c.871C>G (p.Leu291Val)
|
rs878853827
|
|
|
NM_000251.3(MSH2):c.888C>G (p.Phe296Leu)
|
rs876659918
|
|
|
NM_000251.3(MSH2):c.898A>G (p.Met300Val)
|
rs730881753
|
|
|
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)
|
rs757892928
|
|
|
NM_000251.3(MSH2):c.900G>A (p.Met300Ile)
|
rs587782530
|
|
|
NM_000251.3(MSH2):c.900G>T (p.Met300Ile)
|
rs587782530
|
|
|
NM_000251.3(MSH2):c.904T>A (p.Leu302Met)
|
rs876660115
|
|
|
NM_000251.3(MSH2):c.910A>G (p.Ile304Val)
|
rs1558464351
|
|
|
NM_000251.3(MSH2):c.911T>C (p.Ile304Thr)
|
rs1021303606
|
|
|
NM_000251.3(MSH2):c.923G>C (p.Arg308Thr)
|
rs1553352545
|
|
|
NM_000251.3(MSH2):c.932A>C (p.Asn311Thr)
|
rs1553352559
|
|
|
NM_000251.3(MSH2):c.934C>T (p.Leu312Phe)
|
rs756398636
|
|
|
NM_000251.3(MSH2):c.942+16_942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.942+1G>T
|
rs587779193
|
|
|
NM_000251.3(MSH2):c.942+3A>G
|
rs193922376
|
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
|
NM_000251.3(MSH2):c.956A>G (p.Asp319Gly)
|
rs786204185
|
|
|
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.979G>A (p.Ala327Thr)
|
rs1558466437
|
|
|
NM_000251.3(MSH2):c.980C>T (p.Ala327Val)
|
rs1553353141
|
|
|
NM_000251.3(MSH2):c.982G>A (p.Ala328Thr)
|
rs753237286
|
|
|
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=)
|
rs397515880
|
|
|
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr)
|
rs794727046
|
|
|
NM_000256.3(MYBPC3):c.1223+1G>A
|
rs730880639
|
|
|
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)
|
rs397515905
|
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
|
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter)
|
rs730880546
|
|
|
NM_000256.3(MYBPC3):c.1827C>G (p.Ala609=)
|
rs535853707
|
|
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
|
NM_000256.3(MYBPC3):c.223dup (p.Asp75fs)
|
rs2095900669
|
|
|
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)
|
rs397516009
|
|
|
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu)
|
rs551888783
|
|
|
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter)
|
rs730880629
|
|
|
NM_000257.4(MYH7):c.1818G>C (p.Val606=)
|
rs756461569
|
|
|
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)
|
rs397516127
|
|
|
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)
|
rs727503263
|
|
|
NM_000257.4(MYH7):c.2424-6del
|
rs748311799
|
|
|
NM_000257.4(MYH7):c.2424-8C>A
|
rs767171610
|
|
|
NM_000257.4(MYH7):c.2821C>T (p.Arg941Cys)
|
rs750435648
|
|
|
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)
|
rs121913629
|
|
|
NM_000257.4(MYH7):c.3090A>C (p.Gln1030His)
|
rs765570412
|
|
|
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp)
|
rs730880903
|
|
|
NM_000257.4(MYH7):c.323G>A (p.Arg108His)
|
rs730880832
|
|
|
NM_000257.4(MYH7):c.4506C>T (p.Asn1502=)
|
rs2502249759
|
|
|
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)
|
rs397516264
|
|
|
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter)
|
rs730880852
|
|
|
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)
|
rs397516269
|
|
|
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)
|
rs139794067
|
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
|
NM_000258.3(MYL3):c.411G>T (p.Leu137=)
|
rs2233265
|
|
|
NM_000258.3(MYL3):c.466G>T (p.Val156Leu)
|
rs199474707
|
|
|
NM_000268.4(NF2):c.1127G>A (p.Arg376Gln)
|
rs996964764
|
|
|
NM_000268.4(NF2):c.1450A>G (p.Met484Val)
|
rs1182896077
|
|
|
NM_000268.4(NF2):c.1521C>T (p.Phe507=)
|
rs994823423
|
|
|
NM_000268.4(NF2):c.1762C>T (p.Arg588Ter)
|
rs1341371726
|
|
|
NM_000268.4(NF2):c.69C>G (p.Thr23=)
|
rs2064716137
|
|
|
NM_000268.4(NF2):c.904G>A (p.Gly302Arg)
|
rs1255367068
|
|
|
NM_000314.8(PTEN):c.*10del
|
rs756681683
|
|
|
NM_000314.8(PTEN):c.-14A>C
|
rs755295390
|
|
|
NM_000314.8(PTEN):c.1018A>C (p.Asn340His)
|
rs759852661
|
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
|
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu)
|
rs375709098
|
|
|
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp)
|
rs587782345
|
|
|
NM_000314.8(PTEN):c.1074G>C (p.Glu358Asp)
|
rs876659464
|
|
|
NM_000314.8(PTEN):c.1081A>C (p.Ser361Arg)
|
rs1472028496
|
|
|
NM_000314.8(PTEN):c.112C>T (p.Pro38Ser)
|
rs587780004
|
|
|
NM_000314.8(PTEN):c.1130A>T (p.Tyr377Phe)
|
rs751286806
|
|
|
NM_000314.8(PTEN):c.1172C>T (p.Pro391Leu)
|
rs1554826059
|
|
|
NM_000314.8(PTEN):c.160G>A (p.Val54Ile)
|
rs786204916
|
|
|
NM_000314.8(PTEN):c.174T>C (p.Asp58=)
|
rs769719835
|
|
|
NM_000314.8(PTEN):c.209+3A>G
|
rs786202612
|
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
|
NM_000314.8(PTEN):c.212G>T (p.Cys71Phe)
|
rs1554897856
|
|
|
NM_000314.8(PTEN):c.228T>C (p.Tyr76=)
|
rs1554897866
|
|
|
NM_000314.8(PTEN):c.235G>T (p.Ala79Ser)
|
rs202004587
|
|
|
NM_000314.8(PTEN):c.253+4_253+7del
|
rs876659695
|
|
|
NM_000314.8(PTEN):c.328C>G (p.Gln110Glu)
|
rs1114167629
|
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
|
NM_000314.8(PTEN):c.404T>C (p.Ile135Thr)
|
rs370795352
|
|
|
NM_000314.8(PTEN):c.424C>T (p.Arg142Trp)
|
rs746152219
|
|
|
NM_000314.8(PTEN):c.492+14T>C
|
rs1057523132
|
|
|
NM_000314.8(PTEN):c.595A>G (p.Met199Val)
|
rs1434191423
|
|
|
NM_000314.8(PTEN):c.595A>T (p.Met199Leu)
|
rs1434191423
|
|
|
NM_000314.8(PTEN):c.607A>G (p.Ile203Val)
|
rs1564837997
|
|
|
NM_000314.8(PTEN):c.635-1G>C
|
rs876661024
|
|
|
NM_000314.8(PTEN):c.683A>G (p.Asn228Ser)
|
rs748240670
|
|
|
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)
|
rs770025422
|
|
|
NM_000314.8(PTEN):c.743C>G (p.Pro248Arg)
|
rs759560822
|
|
|
NM_000314.8(PTEN):c.759C>T (p.Ile253=)
|
rs752250585
|
|
|
NM_000314.8(PTEN):c.779A>G (p.Lys260Arg)
|
rs1060500125
|
|
|
NM_000314.8(PTEN):c.838A>G (p.Ile280Val)
|
rs1474354667
|
|
|
NM_000314.8(PTEN):c.913A>G (p.Ser305Gly)
|
rs775461980
|
|
|
NM_000314.8(PTEN):c.935A>G (p.Asp312Gly)
|
rs863224667
|
|
|
NM_000314.8(PTEN):c.941A>C (p.Glu314Ala)
|
rs1171478249
|
|
|
NM_000321.3(RB1):c.1224A>C (p.Thr408=)
|
rs371805499
|
|
|
NM_000321.3(RB1):c.1333-9dup
|
rs766968771
|
|
|
NM_000321.3(RB1):c.137+6C>A
|
rs1273298763
|
|
|
NM_000321.3(RB1):c.137+6C>T
|
rs1273298763
|
|
|
NM_000321.3(RB1):c.1410T>G (p.Ile470Met)
|
rs578226820
|
|
|
NM_000321.3(RB1):c.1421+11dup
|
rs1222617235
|
|
|
NM_000321.3(RB1):c.1422-4T>G
|
rs201554179
|
|
|
NM_000321.3(RB1):c.1496G>A (p.Ser499Asn)
|
rs774706300
|
|
|
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser)
|
rs367578442
|
|
|
NM_000321.3(RB1):c.1861C>T (p.Arg621Cys)
|
rs367578442
|
|
|
NM_000321.3(RB1):c.1883C>T (p.Ala628Val)
|
rs1329826610
|
|
|
NM_000321.3(RB1):c.2372A>G (p.Lys791Arg)
|
rs777670056
|
|
|
NM_000321.3(RB1):c.2490-29C>T
|
|
|
|
NM_000321.3(RB1):c.2502A>G (p.Ser834=)
|
rs1949484214
|
|
|
NM_000321.3(RB1):c.2520+5G>C
|
rs1131690881
|
|
|
NM_000321.3(RB1):c.2712G>T (p.Met904Ile)
|
rs1461167778
|
|
|
NM_000321.3(RB1):c.608-4dup
|
rs762805947
|
|
|
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del)
|
rs587778823
|
|
|
NM_000321.3(RB1):c.739A>G (p.Asn247Asp)
|
rs1429451823
|
|
|
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys)
|
rs752130196
|
|
|
NM_000335.5(SCN5A):c.1762C>A (p.His588Asn)
|
rs748732150
|
|
|
NM_000335.5(SCN5A):c.263del (p.Ser88fs)
|
rs2471904012
|
|
|
NM_000335.5(SCN5A):c.274-14C>G
|
rs1559378059
|
|
|
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs)
|
rs756159737
|
|
|
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)
|
rs754221948
|
|
|
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)
|
rs749697698
|
|
|
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile)
|
rs199473293
|
|
|
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)
|
rs41315493
|
|
|
NM_000335.5(SCN5A):c.5899A>G (p.Ile1967Val)
|
rs759094008
|
|
|
NM_000335.5(SCN5A):c.801C>A (p.Ile267=)
|
rs45587735
|
|
|
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln)
|
rs727503506
|
|
|
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.1024C>T (p.Pro342Ser)
|
rs1304291054
|
|
|
NM_000368.5(TSC1):c.1030-14T>C
|
rs180810228
|
|
|
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser)
|
rs1309560054
|
|
|
NM_000368.5(TSC1):c.1209G>T (p.Ser403=)
|
rs141184479
|
|
|
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)
|
rs118203334
|
|
|
NM_000368.5(TSC1):c.1256C>A (p.Pro419His)
|
rs878853959
|
|
|
NM_000368.5(TSC1):c.1257C>A (p.Pro419=)
|
rs369642207
|
|
|
NM_000368.5(TSC1):c.12A>G (p.Gln4=)
|
rs1588363707
|
|
|
NM_000368.5(TSC1):c.1332A>C (p.Ser444=)
|
rs773003016
|
|
|
NM_000368.5(TSC1):c.1333+6del
|
rs1060503212
|
|
|
NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu)
|
rs772868048
|
|
|
NM_000368.5(TSC1):c.1364C>T (p.Thr455Ile)
|
|
|
|
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr)
|
rs1554816213
|
|
|
NM_000368.5(TSC1):c.1503A>C (p.Gly501=)
|
rs201810746
|
|
|
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr)
|
rs765149885
|
|
|
NM_000368.5(TSC1):c.1701G>C (p.Ala567=)
|
rs35478675
|
|
|
NM_000368.5(TSC1):c.1772C>A (p.Pro591Gln)
|
rs768985094
|
|
|
NM_000368.5(TSC1):c.1884_1885delinsGC (p.Lys629Gln)
|
rs1554815756
|
|
|
NM_000368.5(TSC1):c.1950C>T (p.Asp650=)
|
rs1845608638
|
|
|
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)
|
rs118203608
|
|
|
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.211-11dup
|
rs397514775
|
|
|
NM_000368.5(TSC1):c.2161C>T (p.Arg721Cys)
|
rs763357144
|
|
|
NM_000368.5(TSC1):c.2162G>A (p.Arg721His)
|
rs769566267
|
|
|
NM_000368.5(TSC1):c.219G>A (p.Leu73=)
|
rs1588355863
|
|
|
NM_000368.5(TSC1):c.21C>T (p.Val7=)
|
rs145987906
|
|
|
NM_000368.5(TSC1):c.2218T>C (p.Leu740=)
|
rs2131741485
|
|
|
NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp)
|
rs397514814
|
|
|
NM_000368.5(TSC1):c.2478G>A (p.Leu826=)
|
rs149719514
|
|
|
NM_000368.5(TSC1):c.2508A>C (p.Ser836=)
|
rs1554814456
|
|
|
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.2626-21_2626-19dup
|
rs5901000
|
|
|
NM_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
|
NM_000368.5(TSC1):c.2665_2666delinsAT (p.Glu889Ile)
|
rs587778724
|
|
|
NM_000368.5(TSC1):c.270C>G (p.Leu90=)
|
rs142325036
|
|
|
NM_000368.5(TSC1):c.273G>C (p.Ser91=)
|
rs115097221
|
|
|
NM_000368.5(TSC1):c.2772G>A (p.Leu924=)
|
|
|
|
NM_000368.5(TSC1):c.2878T>C (p.Leu960=)
|
rs766383986
|
|
|
NM_000368.5(TSC1):c.2935G>A (p.Glu979Lys)
|
rs1845118974
|
|
|
NM_000368.5(TSC1):c.2973A>G (p.Glu991=)
|
rs2538473355
|
|
|
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr)
|
rs144314195
|
|
|
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe)
|
rs1554812991
|
|
|
NM_000368.5(TSC1):c.3042C>T (p.His1014=)
|
rs1394343524
|
|
|
NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser)
|
rs138445573
|
|
|
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn)
|
rs796053450
|
|
|
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile)
|
rs796053450
|
|
|
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.3113G>A (p.Ser1038Asn)
|
rs1060503196
|
|
|
NM_000368.5(TSC1):c.3115A>C (p.Ser1039Arg)
|
rs1490199228
|
|
|
NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn)
|
rs148931779
|
|
|
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val)
|
rs747162992
|
|
|
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val)
|
rs1060503200
|
|
|
NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val)
|
rs779369226
|
|
|
NM_000368.5(TSC1):c.3276T>G (p.Ala1092=)
|
rs2131597261
|
|
|
NM_000368.5(TSC1):c.3403C>T (p.Leu1135=)
|
rs749612772
|
|
|
NM_000368.5(TSC1):c.3432C>G (p.Thr1144=)
|
rs1588285980
|
|
|
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp)
|
rs796053451
|
|
|
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe)
|
rs755799702
|
|
|
NM_000368.5(TSC1):c.406_418delinsGT (p.Leu136fs)
|
rs1846678053
|
|
|
NM_000368.5(TSC1):c.444A>G (p.Lys148=)
|
rs2132189552
|
|
|
NM_000368.5(TSC1):c.455T>C (p.Leu152Pro)
|
rs755791846
|
|
|
NM_000368.5(TSC1):c.489A>T (p.Ser163=)
|
rs118203386
|
|
|
NM_000368.5(TSC1):c.542A>G (p.His181Arg)
|
rs397515294
|
|
|
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr)
|
rs1279777367
|
|
|
NM_000368.5(TSC1):c.561C>G (p.Leu187=)
|
rs2132158033
|
|
|
NM_000368.5(TSC1):c.891T>C (p.Tyr297=)
|
rs118203461
|
|
|
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.954GTT[1] (p.Leu320del)
|
rs755655903
|
|
|
NM_000368.5(TSC1):c.965_966delinsCT (p.Met322Thr)
|
rs1588324568
|
|
|
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
|
rs61744153
|
|
|
NM_000384.3(APOB):c.238-6T>C
|
rs200048290
|
|
|
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)
|
rs541497967
|
|
|
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys)
|
rs547860537
|
|
|
NM_000432.4(MYL2):c.431_432del (p.Pro144fs)
|
rs1566147422
|
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
|
NM_000432.4(MYL2):c.92_93+1del
|
rs751392310
|
|
|
NM_000455.5(STK11):c.1001G>A (p.Ser334Asn)
|
rs1342275430
|
|
|
NM_000455.5(STK11):c.1040C>G (p.Ala347Gly)
|
rs587782058
|
|
|
NM_000455.5(STK11):c.1045GAGGAC[1] (p.349ED[1])
|
rs762810203
|
|
|
NM_000455.5(STK11):c.1068C>G (p.Ile356Met)
|
rs187744790
|
|
|
NM_000455.5(STK11):c.1129G>C (p.Ala377Pro)
|
rs768870802
|
|
|
NM_000455.5(STK11):c.1213A>G (p.Arg405Gly)
|
rs376718324
|
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1228G>A (p.Ala410Thr)
|
rs2080823389
|
|
|
NM_000455.5(STK11):c.1243C>T (p.Arg415Cys)
|
rs864622448
|
|
|
NM_000455.5(STK11):c.1250C>G (p.Ala417Gly)
|
rs1166243253
|
|
|
NM_000455.5(STK11):c.1252T>A (p.Cys418Ser)
|
rs730881991
|
|
|
NM_000455.5(STK11):c.1253G>C (p.Cys418Ser)
|
rs878853986
|
|
|
NM_000455.5(STK11):c.1258G>A (p.Ala420Thr)
|
rs762482152
|
|
|
NM_000455.5(STK11):c.1261_1262inv (p.Ser421Leu)
|
|
|
|
NM_000455.5(STK11):c.1286C>T (p.Ala429Val)
|
rs757369900
|
|
|
NM_000455.5(STK11):c.1293G>A (p.Lys431=)
|
rs1060503787
|
|
|
NM_000455.5(STK11):c.375-5C>A
|
rs1057517626
|
|
|
NM_000455.5(STK11):c.399G>A (p.Val133=)
|
rs757021648
|
|
|
NM_000455.5(STK11):c.43G>A (p.Gly15Ser)
|
rs1060499970
|
|
|
NM_000455.5(STK11):c.464+1G>A
|
rs730881971
|
|
|
NM_000455.5(STK11):c.465-4G>T
|
rs587780009
|
|
|
NM_000455.5(STK11):c.542A>G (p.Asn181Ser)
|
rs886037859
|
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
|
NM_000455.5(STK11):c.734+19dup
|
rs730881962
|
|
|
NM_000455.5(STK11):c.735-6_735-2del
|
rs759090799
|
|
|
NM_000455.5(STK11):c.737ACA[1] (p.Asn247del)
|
rs2145426726
|
|
|
NM_000455.5(STK11):c.842C>A (p.Pro281Gln)
|
rs121913322
|
|
|
NM_000455.5(STK11):c.842C>G (p.Pro281Arg)
|
rs121913322
|
|
|
NM_000455.5(STK11):c.860A>G (p.Lys287Arg)
|
rs1349316725
|
|
|
NM_000455.5(STK11):c.863-5_863-3del
|
rs764739106
|
|
|
NM_000455.5(STK11):c.894C>G (p.Phe298Leu)
|
rs199681533
|
|
|
NM_000455.5(STK11):c.940C>T (p.Pro314Ser)
|
rs758416485
|
|
|
NM_000455.5(STK11):c.96C>G (p.Thr32=)
|
rs79175212
|
|
|
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)
|
|
|
|
NM_000465.4(BARD1):c.1016G>C (p.Ser339Thr)
|
rs201261729
|
|
|
NM_000465.4(BARD1):c.1040T>C (p.Phe347Ser)
|
rs1559424172
|
|
|
NM_000465.4(BARD1):c.1053_1054delinsCA (p.Val352Met)
|
rs1553622282
|
|
|
NM_000465.4(BARD1):c.1060T>A (p.Ser354Thr)
|
rs863224670
|
|
|
NM_000465.4(BARD1):c.1068T>A (p.Asn356Lys)
|
rs1423687196
|
|
|
NM_000465.4(BARD1):c.1070T>C (p.Ile357Thr)
|
rs587781555
|
|
|
NM_000465.4(BARD1):c.1109G>T (p.Arg370Leu)
|
rs730881416
|
|
|
NM_000465.4(BARD1):c.1126T>G (p.Ser376Ala)
|
rs1060501279
|
|
|
NM_000465.4(BARD1):c.1137A>C (p.Lys379Asn)
|
rs1060501306
|
|
|
NM_000465.4(BARD1):c.1147A>G (p.Met383Val)
|
rs761516178
|
|
|
NM_000465.4(BARD1):c.1147A>T (p.Met383Leu)
|
rs761516178
|
|
|
NM_000465.4(BARD1):c.1153G>A (p.Asp385Asn)
|
rs587782436
|
|
|
NM_000465.4(BARD1):c.1156G>T (p.Glu386Ter)
|
rs1553622218
|
|
|
NM_000465.4(BARD1):c.1172C>G (p.Ser391Ter)
|
rs878853995
|
|
|
NM_000465.4(BARD1):c.1216C>G (p.Arg406Gly)
|
rs377153250
|
|
|
NM_000465.4(BARD1):c.1256A>G (p.Asn419Ser)
|
rs776723079
|
|
|
NM_000465.4(BARD1):c.1264G>A (p.Val422Met)
|
rs876660910
|
|
|
NM_000465.4(BARD1):c.1396-5A>G
|
rs1559410251
|
|
|
NM_000465.4(BARD1):c.1465A>G (p.Thr489Ala)
|
rs1559409974
|
|
|
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu)
|
rs386654966
|
|
|
NM_000465.4(BARD1):c.1525A>G (p.Ile509Val)
|
rs876658576
|
|
|
NM_000465.4(BARD1):c.153G>A (p.Ser51=)
|
rs761103724
|
|
|
NM_000465.4(BARD1):c.1568+2dup
|
rs761579543
|
|
|
NM_000465.4(BARD1):c.157del (p.Cys53fs)
|
rs1696452439
|
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
|
NM_000465.4(BARD1):c.1598A>T (p.Tyr533Phe)
|
rs761673463
|
|
|
NM_000465.4(BARD1):c.1714C>T (p.Leu572Phe)
|
rs772222117
|
|
|
NM_000465.4(BARD1):c.1793C>T (p.Thr598Ile)
|
rs376256852
|
|
|
NM_000465.4(BARD1):c.1822G>A (p.Val608Ile)
|
rs778987552
|
|
|
NM_000465.4(BARD1):c.1852T>A (p.Leu618Met)
|
rs1559386134
|
|
|
NM_000465.4(BARD1):c.1864C>T (p.Leu622Phe)
|
rs1453151719
|
|
|
NM_000465.4(BARD1):c.1904-5G>T
|
rs376639978
|
|
|
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer)
|
rs587782504
|
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
|
NM_000465.4(BARD1):c.1989C>T (p.Asn663=)
|
rs587782767
|
|
|
NM_000465.4(BARD1):c.2002-1G>A
|
rs762601855
|
|
|
NM_000465.4(BARD1):c.2002-2A>T
|
rs876658260
|
|
|
NM_000465.4(BARD1):c.2015_2016dup (p.Asp673fs)
|
rs1559372682
|
|
|
NM_000465.4(BARD1):c.2087C>G (p.Thr696Ser)
|
rs1289051833
|
|
|
NM_000465.4(BARD1):c.20C>G (p.Pro7Arg)
|
rs1696475875
|
|
|
NM_000465.4(BARD1):c.2104A>G (p.Ile702Val)
|
rs587782415
|
|
|
NM_000465.4(BARD1):c.2105T>C (p.Ile702Thr)
|
rs752114855
|
|
|
NM_000465.4(BARD1):c.211T>A (p.Cys71Ser)
|
rs1060501308
|
|
|
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter)
|
rs1553612164
|
|
|
NM_000465.4(BARD1):c.215+5_215+8del
|
rs876658777
|
|
|
NM_000465.4(BARD1):c.216-9A>T
|
rs759575504
|
|
|
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)
|
rs76744638
|
|
|
NM_000465.4(BARD1):c.2191C>T (p.Arg731Cys)
|
rs76744638
|
|
|
NM_000465.4(BARD1):c.2192G>A (p.Arg731His)
|
rs587782248
|
|
|
NM_000465.4(BARD1):c.2196C>G (p.Phe732Leu)
|
rs1553612117
|
|
|
NM_000465.4(BARD1):c.2226G>C (p.Leu742Phe)
|
rs1064793606
|
|
|
NM_000465.4(BARD1):c.2271G>T (p.Lys757Asn)
|
rs1064796724
|
|
|
NM_000465.4(BARD1):c.2293G>A (p.Asp765Asn)
|
rs1574701742
|
|
|
NM_000465.4(BARD1):c.2299G>T (p.Val767Leu)
|
rs1434753563
|
|
|
NM_000465.4(BARD1):c.2323C>T (p.Leu775Phe)
|
rs1553612005
|
|
|
NM_000465.4(BARD1):c.244G>C (p.Gly82Arg)
|
rs1559437226
|
|
|
NM_000465.4(BARD1):c.245G>C (p.Gly82Ala)
|
rs886055600
|
|
|
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg)
|
rs1559437198
|
|
|
NM_000465.4(BARD1):c.298C>T (p.Gln100Ter)
|
rs786201912
|
|
|
NM_000465.4(BARD1):c.389A>C (p.Lys130Thr)
|
rs1174079177
|
|
|
NM_000465.4(BARD1):c.389A>G (p.Lys130Arg)
|
rs1174079177
|
|
|
NM_000465.4(BARD1):c.401A>C (p.Asn134Thr)
|
rs1559426297
|
|
|
NM_000465.4(BARD1):c.493A>T (p.Thr165Ser)
|
rs876658147
|
|
|
NM_000465.4(BARD1):c.503C>A (p.Ala168Glu)
|
rs982408430
|
|
|
NM_000465.4(BARD1):c.503C>G (p.Ala168Gly)
|
rs982408430
|
|
|
NM_000465.4(BARD1):c.503C>T (p.Ala168Val)
|
rs982408430
|
|
|
NM_000465.4(BARD1):c.518C>T (p.Ala173Val)
|
rs1316339721
|
|
|
NM_000465.4(BARD1):c.521G>A (p.Ser174Asn)
|
rs1277839212
|
|
|
NM_000465.4(BARD1):c.562C>T (p.Pro188Ser)
|
rs373249008
|
|
|
NM_000465.4(BARD1):c.565G>A (p.Ala189Thr)
|
rs786202110
|
|
|
NM_000465.4(BARD1):c.617A>G (p.Gln206Arg)
|
rs760718143
|
|
|
NM_000465.4(BARD1):c.664G>T (p.Ala222Ser)
|
rs1574820102
|
|
|
NM_000465.4(BARD1):c.687T>A (p.Phe229Leu)
|
rs756803590
|
|
|
NM_000465.4(BARD1):c.736C>A (p.Pro246Thr)
|
rs927730167
|
|
|
NM_000465.4(BARD1):c.798G>C (p.Leu266Phe)
|
rs1553622436
|
|
|
NM_000465.4(BARD1):c.800C>T (p.Thr267Ile)
|
rs1338972046
|
|
|
NM_000465.4(BARD1):c.827C>G (p.Thr276Ser)
|
rs1694989668
|
|
|
NM_000465.4(BARD1):c.858A>G (p.Ile286Met)
|
rs772845446
|
|
|
NM_000465.4(BARD1):c.86A>C (p.Asp29Ala)
|
rs777491507
|
|
|
NM_000465.4(BARD1):c.872C>G (p.Thr291Ser)
|
rs2106110019
|
|
|
NM_000465.4(BARD1):c.907G>A (p.Val303Ile)
|
rs375048835
|
|
|
NM_000465.4(BARD1):c.919T>C (p.Tyr307His)
|
rs1694981227
|
|
|
NM_000465.4(BARD1):c.949G>C (p.Glu317Gln)
|
rs1559424451
|
|
|
NM_000465.4(BARD1):c.956A>G (p.Asn319Ser)
|
rs996675923
|
|
|
NM_000527.4(LDLR):c.-139_-130delCTCCCCCTGC
|
rs2077055015
|
|
|
NM_000527.4(LDLR):c.-172G>A
|
rs1555800629
|
|
|
NM_000527.4(LDLR):c.-97G>T
|
rs944580031
|
|
|
NM_000527.5(LDLR):c.-135C>G
|
rs879254375
|
|
|
NM_000527.5(LDLR):c.-138del
|
rs387906307
|
|
|
NM_000527.5(LDLR):c.-142C>G
|
rs879254370
|
|
|
NM_000527.5(LDLR):c.-188C>T
|
rs878854023
|
|
|
NM_000527.5(LDLR):c.-84G>A
|
|
|
|
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg)
|
rs544453230
|
|
|
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys)
|
rs879254750
|
|
|
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly)
|
rs879254405
|
|
|
NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter)
|
rs2077362782
|
|
|
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly)
|
rs879254753
|
|
|
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)
|
rs755757866
|
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
rs139361635
|
|
|
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr)
|
rs139361635
|
|
|
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)
|
rs875989914
|
|
|
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp)
|
rs13306515
|
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
rs12710260
|
|
|
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)
|
rs755449669
|
|
|
NM_000527.5(LDLR):c.1067A>T (p.Asp356Val)
|
rs879254777
|
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
|
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr)
|
rs875989915
|
|
|
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu)
|
rs373144619
|
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
rs879254787
|
|
|
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)
|
rs875989916
|
|
|
NM_000527.5(LDLR):c.1187-3dup
|
rs994660852
|
|
|
NM_000527.5(LDLR):c.1187-9G>C
|
rs896885804
|
|
|
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)
|
rs121908043
|
|
|
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)
|
rs137943601
|
|
|
NM_000527.5(LDLR):c.1238C>G (p.Thr413Arg)
|
rs368562025
|
|
|
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
|
rs869320651
|
|
|
NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg)
|
rs752942769
|
|
|
NM_000527.5(LDLR):c.1284C>A (p.Asn428Lys)
|
rs368708058
|
|
|
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys)
|
rs368708058
|
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
|
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)
|
rs879254862
|
|
|
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met)
|
rs5933
|
|
|
NM_000527.5(LDLR):c.1336C>T (p.Leu446=)
|
rs375651668
|
|
|
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567
|
|
|
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT
|
rs879254876
|
|
|
NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe)
|
rs761004553
|
|
|
NM_000527.5(LDLR):c.1368T>A (p.Leu456=)
|
rs2077414640
|
|
|
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser)
|
rs193922568
|
|
|
NM_000527.5(LDLR):c.1400C>T (p.Thr467Ile)
|
rs754411636
|
|
|
NM_000527.5(LDLR):c.1408A>T (p.Ser470Cys)
|
rs1057516128
|
|
|
NM_000527.5(LDLR):c.144C>A (p.Gly48=)
|
rs1250260327
|
|
|
NM_000527.5(LDLR):c.1457G>A (p.Ser486Asn)
|
rs879254910
|
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
rs373646964
|
|
|
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)
|
rs137853960
|
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
|
NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg)
|
rs879254938
|
|
|
NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr)
|
rs875989923
|
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
rs28942080
|
|
|
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu)
|
rs763884010
|
|
|
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
|
rs730882108
|
|
|
NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878
|
|
|
NM_000527.5(LDLR):c.1587-1G>A
|
rs879254948
|
|
|
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro)
|
rs879254968
|
|
|
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala)
|
rs28941776
|
|
|
NM_000527.5(LDLR):c.167C>T (p.Ser56Phe)
|
|
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
|
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val)
|
rs746959386
|
|
|
NM_000527.5(LDLR):c.1706-1G>A
|
rs879254996
|
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
rs777188764
|
|
|
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu)
|
rs777188764
|
|
|
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe)
|
rs1205480064
|
|
|
NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys)
|
rs879254999
|
|
|
NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe)
|
rs934496989
|
|
|
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930
|
|
|
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro)
|
rs879255010
|
|
|
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg)
|
rs753430282
|
|
|
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg)
|
rs763147599
|
|
|
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr)
|
rs72658865
|
|
|
NM_000527.5(LDLR):c.1819C>T (p.His607Tyr)
|
rs1555806536
|
|
|
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu)
|
rs879255035
|
|
|
NM_000527.5(LDLR):c.1836C>A (p.Ala612=)
|
rs143872778
|
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
|
NM_000527.5(LDLR):c.1845+1G>A
|
rs879255049
|
|
|
NM_000527.5(LDLR):c.1846-9C>A
|
rs1568610732
|
|
|
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)
|
rs747134711
|
|
|
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys)
|
rs875989933
|
|
|
NM_000527.5(LDLR):c.1863A>G (p.Thr621=)
|
rs768509914
|
|
|
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr)
|
rs879255064
|
|
|
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)
|
rs879255066
|
|
|
NM_000527.5(LDLR):c.187T>G (p.Cys63Gly)
|
|
|
|
NM_000527.5(LDLR):c.191-15C>G
|
rs749245318
|
|
|
NM_000527.5(LDLR):c.1911del (p.Asp638fs)
|
rs867272973
|
|
|
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584
|
|
|
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val)
|
rs879255075
|
|
|
NM_000527.5(LDLR):c.1936C>A (p.Leu646Ile)
|
rs779940524
|
|
|
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936
|
|
|
NM_000527.5(LDLR):c.1987+6G>C
|
rs752382813
|
|
|
NM_000527.5(LDLR):c.1A>T (p.Met1Leu)
|
rs879254382
|
|
|
NM_000527.5(LDLR):c.2001_2002del (p.Cys667_Glu668delinsTer)
|
rs1600743301
|
|
|
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser)
|
rs745753810
|
|
|
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr)
|
rs774730452
|
|
|
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr)
|
rs776217028
|
|
|
NM_000527.5(LDLR):c.2095C>T (p.Pro699Ser)
|
rs2512431262
|
|
|
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser)
|
rs193922570
|
|
|
NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly)
|
rs1057519684
|
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
|
NM_000527.5(LDLR):c.2141-7C>A
|
rs2147272729
|
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
|
NM_000527.5(LDLR):c.2224A>G (p.Thr742Ala)
|
rs1568614637
|
|
|
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln)
|
rs1555808091
|
|
|
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)
|
rs574337291
|
|
|
NM_000527.5(LDLR):c.230del (p.Gly77fs)
|
rs879254440
|
|
|
NM_000527.5(LDLR):c.2312-3C>A
|
rs875989942
|
|
|
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp)
|
rs761683856
|
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
rs750518671
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
rs875989944
|
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
rs773618064
|
|
|
NM_000527.5(LDLR):c.2442del (p.Lys816fs)
|
rs2147287002
|
|
|
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)
|
rs374045590
|
|
|
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr)
|
rs879255217
|
|
|
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
|
rs28942085
|
|
|
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile)
|
rs879255220
|
|
|
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu)
|
rs875989892
|
|
|
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp)
|
rs121908037
|
|
|
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)
|
rs377437226
|
|
|
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu)
|
rs774467219
|
|
|
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe)
|
rs879254457
|
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
|
NM_000527.5(LDLR):c.313+5G>T
|
rs879254467
|
|
|
NM_000527.5(LDLR):c.314-1G>A
|
rs879254471
|
|
|
NM_000527.5(LDLR):c.324G>A (p.Thr108=)
|
rs146517429
|
|
|
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)
|
rs879254476
|
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
rs769383881
|
|
|
NM_000527.5(LDLR):c.340_344del (p.Phe114fs)
|
rs1057516132
|
|
|
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg)
|
rs879254482
|
|
|
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)
|
rs879254495
|
|
|
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg)
|
rs875989900
|
|
|
NM_000527.5(LDLR):c.401G>T (p.Cys134Phe)
|
rs879254514
|
|
|
NM_000527.5(LDLR):c.427T>A (p.Cys143Ser)
|
rs875989901
|
|
|
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg)
|
rs875989901
|
|
|
NM_000527.5(LDLR):c.431C>T (p.Pro144Leu)
|
rs912448894
|
|
|
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile)
|
rs879254524
|
|
|
NM_000527.5(LDLR):c.485C>T (p.Pro162Leu)
|
rs879254543
|
|
|
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro)
|
rs879254544
|
|
|
NM_000527.5(LDLR):c.49G>A (p.Ala17Thr)
|
rs1201172788
|
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
rs752596535
|
|
|
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu)
|
rs1060499931
|
|
|
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp)
|
rs769318035
|
|
|
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)
|
rs121908033
|
|
|
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu)
|
rs879254566
|
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
|
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)
|
rs557344672
|
|
|
NM_000527.5(LDLR):c.543G>T (p.Pro181=)
|
rs766577671
|
|
|
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter)
|
rs121908034
|
|
|
NM_000527.5(LDLR):c.567G>C (p.Val189=)
|
rs753329861
|
|
|
NM_000527.5(LDLR):c.56C>T (p.Ala19Val)
|
rs879254392
|
|
|
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg)
|
rs730882085
|
|
|
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)
|
rs730882085
|
|
|
NM_000527.5(LDLR):c.59G>A (p.Gly20Glu)
|
rs1568582750
|
|
|
NM_000527.5(LDLR):c.601G>C (p.Glu201Gln)
|
rs879254589
|
|
|
NM_000527.5(LDLR):c.621C>G (p.Gly207=)
|
rs121908044
|
|
|
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)
|
rs879254597
|
|
|
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr)
|
rs879254604
|
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
|
NM_000527.5(LDLR):c.653del (p.Gly218fs)
|
rs137853966
|
|
|
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup)
|
rs879254620
|
|
|
NM_000527.5(LDLR):c.666C>T (p.Cys222=)
|
rs756613387
|
|
|
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303
|
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
rs121908029
|
|
|
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
|
rs121908029
|
|
|
NM_000527.5(LDLR):c.693C>T (p.Cys231=)
|
rs121908035
|
|
|
NM_000527.5(LDLR):c.694+1G>A
|
rs879254646
|
|
|
NM_000527.5(LDLR):c.694+6G>A
|
rs1019330092
|
|
|
NM_000527.5(LDLR):c.694+8_694+18del
|
rs777512182
|
|
|
NM_000527.5(LDLR):c.695-10T>G
|
rs778975482
|
|
|
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)
|
rs879254659
|
|
|
NM_000527.5(LDLR):c.750T>C (p.His250=)
|
rs141929940
|
|
|
NM_000527.5(LDLR):c.781T>C (p.Cys261Arg)
|
rs1372739823
|
|
|
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr)
|
rs879254683
|
|
|
NM_000527.5(LDLR):c.819G>A (p.Val273=)
|
rs1555803817
|
|
|
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)
|
rs2228671
|
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
rs2228671
|
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
|
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
|
rs879254714
|
|
|
NM_000527.5(LDLR):c.926C>A (p.Pro309His)
|
rs1600715567
|
|
|
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg)
|
rs761765254
|
|
|
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)
|
rs875989910
|
|
|
NM_000527.5(LDLR):c.940+3_940+6del
|
rs2077315885
|
|
|
NM_000527.5(LDLR):c.948C>G (p.Asn316Lys)
|
rs780673258
|
|
|
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
|
rs879254739
|
|
|
NM_000527.5(LDLR):c.966C>A (p.Asn322Lys)
|
rs567080879
|
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
rs72658860
|
|
|
NM_000527.5(LDLR):c.980A>C (p.His327Pro)
|
rs2077361686
|
|
|
NM_000527.5(LDLR):c.981C>A (p.His327Gln)
|
rs1060499933
|
|
|
NM_000531.6(OTC):c.1028C>T (p.Thr343Ile)
|
rs72558491
|
|
|
NM_000531.6(OTC):c.149G>C (p.Gly50Ala)
|
rs201802621
|
|
|
NM_000531.6(OTC):c.387T>C (p.Arg129=)
|
rs1052206430
|
|
|
NM_000531.6(OTC):c.449C>A (p.Thr150Asn)
|
rs766735977
|
|
|
NM_000531.6(OTC):c.541-9G>T
|
|
|
|
NM_000531.6(OTC):c.582C>A (p.Ile194=)
|
rs200564773
|
|
|
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)
|
rs72558452
|
|
|
NM_000535.7(PMS2):c.-2C>T
|
rs876658209
|
|
|
NM_000535.7(PMS2):c.-5C>A
|
rs786202272
|
|
|
NM_000535.7(PMS2):c.1068G>A (p.Lys356=)
|
rs528499793
|
|
|
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)
|
rs746889239
|
|
|
NM_000535.7(PMS2):c.1197G>T (p.Lys399Asn)
|
rs757730609
|
|
|
NM_000535.7(PMS2):c.1204C>A (p.Gln402Lys)
|
rs587782789
|
|
|
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly)
|
rs776725795
|
|
|
NM_000535.7(PMS2):c.1228G>A (p.Glu410Lys)
|
rs1358586679
|
|
|
NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp)
|
rs587780040
|
|
|
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu)
|
rs587778616
|
|
|
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg)
|
rs587780041
|
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
|
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu)
|
rs138387687
|
|
|
NM_000535.7(PMS2):c.1249A>C (p.Ile417Leu)
|
rs1060503132
|
|
|
NM_000535.7(PMS2):c.1285A>G (p.Thr429Ala)
|
rs1450566410
|
|
|
NM_000535.7(PMS2):c.1301C>G (p.Pro434Arg)
|
rs1554297919
|
|
|
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly)
|
rs1583321782
|
|
|
NM_000535.7(PMS2):c.1327A>G (p.Arg443Gly)
|
rs1222691058
|
|
|
NM_000535.7(PMS2):c.1331G>T (p.Arg444Met)
|
rs1241272236
|
|
|
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg)
|
rs569947936
|
|
|
NM_000535.7(PMS2):c.1359G>T (p.Met453Ile)
|
rs886062401
|
|
|
NM_000535.7(PMS2):c.1373C>A (p.Thr458Asn)
|
rs755348833
|
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
|
NM_000535.7(PMS2):c.1382C>T (p.Ala461Val)
|
rs1060503133
|
|
|
NM_000535.7(PMS2):c.1423G>A (p.Val475Met)
|
rs864622579
|
|
|
NM_000535.7(PMS2):c.1429T>A (p.Ser477Thr)
|
rs1554297760
|
|
|
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg)
|
rs146848345
|
|
|
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)
|
rs1805323
|
|
|
NM_000535.7(PMS2):c.1456G>C (p.Asp486His)
|
rs2128730228
|
|
|
NM_000535.7(PMS2):c.1457A>G (p.Asp486Gly)
|
rs899935666
|
|
|
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys)
|
rs876660060
|
|
|
NM_000535.7(PMS2):c.1475A>G (p.Lys492Arg)
|
rs1583319590
|
|
|
NM_000535.7(PMS2):c.1496C>T (p.Thr499Ile)
|
rs746064480
|
|
|
NM_000535.7(PMS2):c.1540C>A (p.His514Asn)
|
rs878854036
|
|
|
NM_000535.7(PMS2):c.1554G>C (p.Glu518Asp)
|
rs1562630820
|
|
|
NM_000535.7(PMS2):c.1570C>T (p.Pro524Ser)
|
rs756127972
|
|
|
NM_000535.7(PMS2):c.1571C>T (p.Pro524Leu)
|
rs63751257
|
|
|
NM_000535.7(PMS2):c.1574G>A (p.Gly525Glu)
|
rs2128727664
|
|
|
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn)
|
rs63750686
|
|
|
NM_000535.7(PMS2):c.1589A>G (p.Gln530Arg)
|
rs1783039464
|
|
|
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup)
|
rs587780043
|
|
|
NM_000535.7(PMS2):c.1597G>A (p.Val533Met)
|
rs1783036349
|
|
|
NM_000535.7(PMS2):c.1615G>T (p.Ala539Ser)
|
rs1783031685
|
|
|
NM_000535.7(PMS2):c.163+1G>A
|
rs1064795705
|
|
|
NM_000535.7(PMS2):c.1632C>A (p.Asp544Glu)
|
rs786203439
|
|
|
NM_000535.7(PMS2):c.1664A>G (p.Gln555Arg)
|
rs745836140
|
|
|
NM_000535.7(PMS2):c.1666G>C (p.Glu556Gln)
|
rs786202656
|
|
|
NM_000535.7(PMS2):c.1673C>G (p.Thr558Ser)
|
rs114037612
|
|
|
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr)
|
rs757989905
|
|
|
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu)
|
rs764749700
|
|
|
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.1703C>G (p.Pro568Arg)
|
rs869312801
|
|
|
NM_000535.7(PMS2):c.1708A>C (p.Asn570His)
|
rs115670442
|
|
|
NM_000535.7(PMS2):c.1714G>T (p.Ala572Ser)
|
rs63751023
|
|
|
NM_000535.7(PMS2):c.1720C>G (p.Pro574Ala)
|
rs758018736
|
|
|
NM_000535.7(PMS2):c.1733G>A (p.Arg578His)
|
rs63750770
|
|
|
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile)
|
rs762100304
|
|
|
NM_000535.7(PMS2):c.1768A>G (p.Ile590Val)
|
rs63750476
|
|
|
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
|
rs764252217
|
|
|
NM_000535.7(PMS2):c.1772G>C (p.Cys591Ser)
|
rs1583315717
|
|
|
NM_000535.7(PMS2):c.1783G>C (p.Val595Leu)
|
rs1171070752
|
|
|
NM_000535.7(PMS2):c.1789A>C (p.Thr597Pro)
|
rs1805318
|
|
|
NM_000535.7(PMS2):c.1795G>A (p.Asp599Asn)
|
rs1380574195
|
|
|
NM_000535.7(PMS2):c.1796A>G (p.Asp599Gly)
|
rs878854039
|
|
|
NM_000535.7(PMS2):c.1808C>T (p.Ser603Phe)
|
rs770841005
|
|
|
NM_000535.7(PMS2):c.1833T>G (p.Ile611Met)
|
rs1554297188
|
|
|
NM_000535.7(PMS2):c.1843G>A (p.Val615Ile)
|
rs1782962260
|
|
|
NM_000535.7(PMS2):c.1877C>A (p.Ala626Asp)
|
rs786203121
|
|
|
NM_000535.7(PMS2):c.1882C>G (p.Arg628Gly)
|
rs63750451
|
|
|
NM_000535.7(PMS2):c.1887A>G (p.Ile629Met)
|
rs1583314135
|
|
|
NM_000535.7(PMS2):c.1907C>T (p.Ala636Val)
|
rs1782943354
|
|
|
NM_000535.7(PMS2):c.1922G>T (p.Gly641Val)
|
rs1554297114
|
|
|
NM_000535.7(PMS2):c.2007-3C>T
|
rs1416969857
|
|
|
NM_000535.7(PMS2):c.2083A>C (p.Ile695Leu)
|
rs1313824270
|
|
|
NM_000535.7(PMS2):c.2173G>A (p.Ala725Thr)
|
rs1303835934
|
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
|
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)
|
rs758225108
|
|
|
NM_000535.7(PMS2):c.2260G>A (p.Val754Ile)
|
rs876658822
|
|
|
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn)
|
rs762206330
|
|
|
NM_000535.7(PMS2):c.2275+1G>C
|
rs1554294393
|
|
|
NM_000535.7(PMS2):c.24-1G>A
|
rs1785723689
|
|
|
NM_000535.7(PMS2):c.2411A>G (p.Lys804Arg)
|
rs2128672266
|
|
|
NM_000535.7(PMS2):c.250+4A>C
|
rs1554304934
|
|
|
NM_000535.7(PMS2):c.2505G>T (p.Gly835=)
|
rs1583269666
|
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
|
NM_000535.7(PMS2):c.300G>C (p.Gln100His)
|
rs1064794102
|
|
|
NM_000535.7(PMS2):c.321G>T (p.Arg107=)
|
rs756420858
|
|
|
NM_000535.7(PMS2):c.322G>T (p.Gly108Trp)
|
rs750866397
|
|
|
NM_000535.7(PMS2):c.353+1G>A
|
rs113517055
|
|
|
NM_000535.7(PMS2):c.353+2T>C
|
rs111466480
|
|
|
NM_000535.7(PMS2):c.354-12A>G
|
rs1554304135
|
|
|
NM_000535.7(PMS2):c.406A>G (p.Met136Val)
|
rs35690297
|
|
|
NM_000535.7(PMS2):c.537+1del
|
rs1064793868
|
|
|
NM_000535.7(PMS2):c.538-12T>G
|
rs1554302551
|
|
|
NM_000535.7(PMS2):c.565C>A (p.His189Asn)
|
rs1583387579
|
|
|
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser)
|
rs878854055
|
|
|
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu)
|
rs878854056
|
|
|
NM_000535.7(PMS2):c.705+1G>A
|
rs267608147
|
|
|
NM_000535.7(PMS2):c.706-11T>C
|
rs1185117521
|
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
|
NM_000535.7(PMS2):c.706-5T>C
|
rs1203452929
|
|
|
NM_000535.7(PMS2):c.706-5_706-4del
|
rs60794673
|
|
|
NM_000535.7(PMS2):c.75G>A (p.Gln25=)
|
rs1554306525
|
|
|
NM_000535.7(PMS2):c.779_780delinsTG (p.Ser260Leu)
|
rs730881920
|
|
|
NM_000535.7(PMS2):c.803A>G (p.Tyr268Cys)
|
rs1347758423
|
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
|
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu)
|
rs375507981
|
|
|
NM_000535.7(PMS2):c.904-2A>G
|
rs587781339
|
|
|
NM_000540.3(RYR1):c.10041C>T (p.Ser3347=)
|
rs1379806132
|
|
|
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)
|
rs137932199
|
|
|
NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter)
|
rs1216966090
|
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
|
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)
|
rs121918592
|
|
|
NM_000540.3(RYR1):c.10467G>T (p.Ser3489=)
|
rs751798987
|
|
|
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs)
|
rs1568537774
|
|
|
NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met)
|
rs200144997
|
|
|
NM_000540.3(RYR1):c.10824+2T>G
|
rs111446464
|
|
|
NM_000540.3(RYR1):c.10938-6del
|
rs2514496791
|
|
|
NM_000540.3(RYR1):c.10938-8C>A
|
rs1314510894
|
|
|
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del)
|
rs760784102
|
|
|
NM_000540.3(RYR1):c.1108G>C (p.Val370Leu)
|
rs537344365
|
|
|
NM_000540.3(RYR1):c.11132C>G (p.Thr3711Arg)
|
rs375915752
|
|
|
NM_000540.3(RYR1):c.11132C>T (p.Thr3711Met)
|
rs375915752
|
|
|
NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del)
|
rs745569223
|
|
|
NM_000540.3(RYR1):c.11690-3del
|
rs2514574248
|
|
|
NM_000540.3(RYR1):c.11778+1G>T
|
rs1555794209
|
|
|
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr)
|
rs777016690
|
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
|
NM_000540.3(RYR1):c.12319del (p.Ile4107fs)
|
rs754572007
|
|
|
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del)
|
rs1238215145
|
|
|
NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu)
|
rs193922852
|
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
|
NM_000540.3(RYR1):c.13438-6C>G
|
rs756003242
|
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
|
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu)
|
rs145167688
|
|
|
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)
|
rs753208767
|
|
|
NM_000540.3(RYR1):c.14364+1G>A
|
rs1974046221
|
|
|
NM_000540.3(RYR1):c.14364+5_14364+31dup
|
rs2145889339
|
|
|
NM_000540.3(RYR1):c.14365-6C>T
|
rs1064797242
|
|
|
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)
|
rs118192143
|
|
|
NM_000540.3(RYR1):c.14559C>T (p.Thr4853=)
|
rs570469685
|
|
|
NM_000540.3(RYR1):c.14647-1447_14647-1446del
|
rs1275854388
|
|
|
NM_000540.3(RYR1):c.14647-3C>T
|
rs1974401494
|
|
|
NM_000540.3(RYR1):c.14647-3_14647del
|
rs1568611362
|
|
|
NM_000540.3(RYR1):c.14938_14939del (p.Thr4980fs)
|
rs1568613455
|
|
|
NM_000540.3(RYR1):c.166-3dup
|
rs745926203
|
|
|
NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)
|
rs193922771
|
|
|
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)
|
rs878854365
|
|
|
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)
|
rs1456276440
|
|
|
NM_000540.3(RYR1):c.2168-3dup
|
rs1555770306
|
|
|
NM_000540.3(RYR1):c.2224G>A (p.Val742Met)
|
rs1364240080
|
|
|
NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs)
|
rs1460246826
|
|
|
NM_000540.3(RYR1):c.2501G>A (p.Arg834Gln)
|
rs1314923827
|
|
|
NM_000540.3(RYR1):c.2505del (p.Pro836fs)
|
rs797045932
|
|
|
NM_000540.3(RYR1):c.2787-9C>G
|
rs375167590
|
|
|
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)
|
rs1440262870
|
|
|
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=)
|
rs201599911
|
|
|
NM_000540.3(RYR1):c.3420C>T (p.Arg1140=)
|
rs201599911
|
|
|
NM_000540.3(RYR1):c.3451dup (p.Met1151fs)
|
rs2145461642
|
|
|
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)
|
rs559581937
|
|
|
NM_000540.3(RYR1):c.3713_3715dup (p.Ser1238dup)
|
rs761789667
|
|
|
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)
|
rs193922744
|
|
|
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs)
|
rs1281542312
|
|
|
NM_000540.3(RYR1):c.4266C>T (p.Asp1422=)
|
rs886054385
|
|
|
NM_000540.3(RYR1):c.4269C>G (p.Pro1423=)
|
rs2229141
|
|
|
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=)
|
rs2229141
|
|
|
NM_000540.3(RYR1):c.4294-1G>C
|
rs2514176735
|
|
|
NM_000540.3(RYR1):c.447G>A (p.Met149Ile)
|
rs772652844
|
|
|
NM_000540.3(RYR1):c.4537_4540dup (p.Val1514fs)
|
|
|
|
NM_000540.3(RYR1):c.46-4G>A
|
rs201094741
|
|
|
NM_000540.3(RYR1):c.471T>A (p.Ser157=)
|
rs140573900
|
|
|
NM_000540.3(RYR1):c.4875_4879dup (p.Val1627fs)
|
rs758867047
|
|
|
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=)
|
rs369466056
|
|
|
NM_000540.3(RYR1):c.5055C>G (p.Cys1685Trp)
|
rs761393058
|
|
|
NM_000540.3(RYR1):c.5180G>A (p.Arg1727His)
|
|
|
|
NM_000540.3(RYR1):c.5352C>A (p.Ala1784=)
|
rs373382967
|
|
|
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)
|
rs371047178
|
|
|
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del)
|
rs559371263
|
|
|
NM_000540.3(RYR1):c.5723A>G (p.Lys1908Arg)
|
rs1214096526
|
|
|
NM_000540.3(RYR1):c.5749G>T (p.Glu1917Ter)
|
rs781075511
|
|
|
NM_000540.3(RYR1):c.5925C>A (p.Ser1975Arg)
|
rs141689968
|
|
|
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)
|
rs199947661
|
|
|
NM_000540.3(RYR1):c.6128-13T>G
|
rs1969594703
|
|
|
NM_000540.3(RYR1):c.6220AAG[2] (p.Lys2076del)
|
rs913794924
|
|
|
NM_000540.3(RYR1):c.6275-11C>G
|
rs766560974
|
|
|
NM_000540.3(RYR1):c.6469del (p.Glu2157fs)
|
rs2514275843
|
|
|
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)
|
rs118192176
|
|
|
NM_000540.3(RYR1):c.6502G>C (p.Val2168Leu)
|
rs118192176
|
|
|
NM_000540.3(RYR1):c.663C>T (p.Leu221=)
|
rs761319979
|
|
|
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr)
|
rs917523269
|
|
|
NM_000540.3(RYR1):c.6797-3C>T
|
rs766633897
|
|
|
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)
|
rs886041380
|
|
|
NM_000540.3(RYR1):c.680A>T (p.Asp227Val)
|
rs193922760
|
|
|
NM_000540.3(RYR1):c.6823G>A (p.Val2275Met)
|
rs756847750
|
|
|
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met)
|
rs746971794
|
|
|
NM_000540.3(RYR1):c.7107G>A (p.Arg2369=)
|
rs2145600619
|
|
|
NM_000540.3(RYR1):c.7261G>A (p.Ala2421Thr)
|
rs193922808
|
|
|
NM_000540.3(RYR1):c.7304G>T (p.Arg2435Leu)
|
rs28933396
|
|
|
NM_000540.3(RYR1):c.7315G>A (p.Glu2439Lys)
|
rs1568501702
|
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
|
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp)
|
rs1801086
|
|
|
NM_000540.3(RYR1):c.7584C>G (p.Pro2528=)
|
rs1465698
|
|
|
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=)
|
rs1465698
|
|
|
NM_000540.3(RYR1):c.7615-11del
|
rs918526484
|
|
|
NM_000540.3(RYR1):c.7668G>A (p.Leu2556=)
|
|
|
|
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs)
|
rs1281875506
|
|
|
NM_000540.3(RYR1):c.7835+5_7835+26dup
|
rs762183772
|
|
|
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=)
|
rs148907377
|
|
|
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs)
|
rs1600842678
|
|
|
NM_000540.3(RYR1):c.8046_8064dup (p.Lys2689delinsLeuTer)
|
rs1970341946
|
|
|
NM_000540.3(RYR1):c.821G>A (p.Arg274His)
|
rs368711923
|
|
|
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)
|
rs758580075
|
|
|
NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter)
|
rs1057518773
|
|
|
NM_000540.3(RYR1):c.8501C>G (p.Thr2834Arg)
|
rs555470100
|
|
|
NM_000540.3(RYR1):c.8556A>T (p.Arg2852=)
|
rs2514365738
|
|
|
NM_000540.3(RYR1):c.8580dup (p.Asp2861fs)
|
rs757481998
|
|
|
NM_000540.3(RYR1):c.8692+1G>T
|
rs1057523844
|
|
|
NM_000540.3(RYR1):c.897G>C (p.Val299=)
|
rs76854339
|
|
|
NM_000540.3(RYR1):c.9001-15C>A
|
rs372702492
|
|
|
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln)
|
rs1053579438
|
|
|
NM_000540.3(RYR1):c.9123-14T>G
|
rs2145659049
|
|
|
NM_000540.3(RYR1):c.9168_9169del (p.Phe3057fs)
|
rs1555787058
|
|
|
NM_000540.3(RYR1):c.9215C>T (p.Ala3072Val)
|
rs1970754416
|
|
|
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys)
|
rs193922832
|
|
|
NM_000540.3(RYR1):c.9579C>T (p.Cys3193=)
|
rs587784379
|
|
|
NM_000540.3(RYR1):c.9905dup (p.Pro3303fs)
|
rs749656679
|
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
|
NM_000546.6(TP53):c.100C>A (p.Pro34Thr)
|
rs786201968
|
|
|
NM_000546.6(TP53):c.100C>G (p.Pro34Ala)
|
rs786201968
|
|
|
NM_000546.6(TP53):c.100C>T (p.Pro34Ser)
|
rs786201968
|
|
|
NM_000546.6(TP53):c.1014C>G (p.Phe338Leu)
|
rs150293825
|
|
|
NM_000546.6(TP53):c.1015G>C (p.Glu339Gln)
|
rs17882252
|
|
|
NM_000546.6(TP53):c.101C>G (p.Pro34Arg)
|
rs1322947350
|
|
|
NM_000546.6(TP53):c.1064C>T (p.Ala355Val)
|
rs1555524382
|
|
|
NM_000546.6(TP53):c.1066G>A (p.Gly356Arg)
|
rs766786605
|
|
|
NM_000546.6(TP53):c.1076C>G (p.Pro359Arg)
|
rs1483922249
|
|
|
NM_000546.6(TP53):c.107C>A (p.Pro36Gln)
|
rs587781866
|
|
|
NM_000546.6(TP53):c.1104C>G (p.His368Gln)
|
rs1289241865
|
|
|
NM_000546.6(TP53):c.1115A>G (p.Lys372Arg)
|
rs876658876
|
|
|
NM_000546.6(TP53):c.1118A>G (p.Lys373Arg)
|
rs1567540504
|
|
|
NM_000546.6(TP53):c.1119G>T (p.Lys373Asn)
|
rs1342613419
|
|
|
NM_000546.6(TP53):c.1135C>T (p.Arg379Cys)
|
rs749061599
|
|
|
NM_000546.6(TP53):c.1163A>C (p.Glu388Ala)
|
rs587781736
|
|
|
NM_000546.6(TP53):c.1177G>A (p.Asp393Asn)
|
rs1192921623
|
|
|
NM_000546.6(TP53):c.1177G>C (p.Asp393His)
|
rs1192921623
|
|
|
NM_000546.6(TP53):c.119T>C (p.Met40Thr)
|
rs587782877
|
|
|
NM_000546.6(TP53):c.11C>T (p.Pro4Leu)
|
rs878854064
|
|
|
NM_000546.6(TP53):c.125A>G (p.Asp42Gly)
|
rs587781767
|
|
|
NM_000546.6(TP53):c.139C>A (p.Pro47Thr)
|
rs1800371
|
|
|
NM_000546.6(TP53):c.140C>G (p.Pro47Arg)
|
rs1597375038
|
|
|
NM_000546.6(TP53):c.144C>A (p.Asp48Glu)
|
rs587781460
|
|
|
NM_000546.6(TP53):c.198G>A (p.Met66Ile)
|
rs1555526711
|
|
|
NM_000546.6(TP53):c.19G>C (p.Asp7His)
|
rs587782646
|
|
|
NM_000546.6(TP53):c.205G>A (p.Ala69Thr)
|
rs1567556618
|
|
|
NM_000546.6(TP53):c.211C>G (p.Pro71Ala)
|
rs1567556576
|
|
|
NM_000546.6(TP53):c.214C>A (p.Pro72Thr)
|
rs587782769
|
|
|
NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys)
|
rs730882014
|
|
|
NM_000546.6(TP53):c.215C>A (p.Pro72His)
|
rs1042522
|
|
|
NM_000546.6(TP53):c.215_217delinsGCA (p.Pro72_Val73delinsArgMet)
|
rs2543632082
|
|
|
NM_000546.6(TP53):c.233C>G (p.Ala78Gly)
|
rs876658527
|
|
|
NM_000546.6(TP53):c.244C>G (p.Pro82Ala)
|
rs1555526664
|
|
|
NM_000546.6(TP53):c.256G>C (p.Ala86Pro)
|
rs587782148
|
|
|
NM_000546.6(TP53):c.257C>T (p.Ala86Val)
|
rs1597374264
|
|
|
NM_000546.6(TP53):c.265C>A (p.Pro89Thr)
|
rs1597374210
|
|
|
NM_000546.6(TP53):c.266C>T (p.Pro89Leu)
|
rs730881994
|
|
|
NM_000546.6(TP53):c.275C>T (p.Pro92Leu)
|
rs1210700121
|
|
|
NM_000546.6(TP53):c.28G>C (p.Val10Leu)
|
rs535274413
|
|
|
NM_000546.6(TP53):c.304A>T (p.Thr102Ser)
|
rs1567555968
|
|
|
NM_000546.6(TP53):c.305C>T (p.Thr102Ile)
|
rs786202717
|
|
|
NM_000546.6(TP53):c.317G>T (p.Ser106Ile)
|
rs1567555883
|
|
|
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)
|
rs201382018
|
|
|
NM_000546.6(TP53):c.334G>A (p.Gly112Ser)
|
rs1423803759
|
|
|
NM_000546.6(TP53):c.344A>G (p.His115Arg)
|
rs730881996
|
|
|
NM_000546.6(TP53):c.35C>T (p.Pro12Leu)
|
rs1482497533
|
|
|
NM_000546.6(TP53):c.376-4A>T
|
rs1221388024
|
|
|
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)
|
rs1567554500
|
|
|
NM_000546.6(TP53):c.385G>A (p.Ala129Thr)
|
rs1438095083
|
|
|
NM_000546.6(TP53):c.388C>T (p.Leu130Phe)
|
rs863224683
|
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
|
NM_000546.6(TP53):c.40C>G (p.Leu14Val)
|
rs1567558112
|
|
|
NM_000546.6(TP53):c.433C>G (p.Leu145Val)
|
rs786203928
|
|
|
NM_000546.6(TP53):c.434T>A (p.Leu145Gln)
|
rs587782197
|
|
|
NM_000546.6(TP53):c.442G>T (p.Asp148Tyr)
|
rs1131691007
|
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
|
NM_000546.6(TP53):c.466C>G (p.Arg156Gly)
|
rs563378859
|
|
|
NM_000546.6(TP53):c.475G>A (p.Ala159Thr)
|
rs730882000
|
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
|
NM_000546.6(TP53):c.533A>C (p.His178Pro)
|
rs1555526004
|
|
|
NM_000546.6(TP53):c.537T>A (p.His179Gln)
|
rs876660821
|
|
|
NM_000546.6(TP53):c.542G>T (p.Arg181Leu)
|
rs397514495
|
|
|
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)
|
rs483352697
|
|
|
NM_000546.6(TP53):c.604C>G (p.Arg202Gly)
|
rs587780072
|
|
|
NM_000546.6(TP53):c.625A>G (p.Arg209Gly)
|
rs1429743956
|
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
|
NM_000546.6(TP53):c.63C>T (p.Asp21=)
|
rs1800369
|
|
|
NM_000546.6(TP53):c.641A>G (p.His214Arg)
|
rs1057519992
|
|
|
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)
|
rs886039484
|
|
|
NM_000546.6(TP53):c.645T>A (p.Ser215Arg)
|
rs1057520001
|
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
|
NM_000546.6(TP53):c.649G>T (p.Val217Leu)
|
rs35163653
|
|
|
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>T
|
rs863224499
|
|
|
NM_000546.6(TP53):c.673-19G>A
|
rs564974117
|
|
|
NM_000546.6(TP53):c.673-5C>G
|
rs876658684
|
|
|
NM_000546.6(TP53):c.673G>A (p.Val225Ile)
|
rs746504075
|
|
|
NM_000546.6(TP53):c.684C>G (p.Asp228Glu)
|
rs2073267220
|
|
|
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)
|
rs730882026
|
|
|
NM_000546.6(TP53):c.709A>G (p.Met237Val)
|
rs730882004
|
|
|
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)
|
rs1057522275
|
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
|
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)
|
rs28934571
|
|
|
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
|
rs1330865474
|
|
|
NM_000546.6(TP53):c.770T>A (p.Leu257Gln)
|
rs28934577
|
|
|
NM_000546.6(TP53):c.772G>A (p.Glu258Lys)
|
rs121912652
|
|
|
NM_000546.6(TP53):c.779C>A (p.Ser260Tyr)
|
rs876658916
|
|
|
NM_000546.6(TP53):c.783-4G>A
|
rs1060504160
|
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
|
NM_000546.6(TP53):c.7G>A (p.Glu3Lys)
|
rs2073524362
|
|
|
NM_000546.6(TP53):c.804C>G (p.Asn268Lys)
|
rs1597362168
|
|
|
NM_000546.6(TP53):c.811G>A (p.Glu271Lys)
|
rs1060501191
|
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
|
NM_000546.6(TP53):c.829T>C (p.Cys277Arg)
|
rs1064795369
|
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
|
NM_000546.6(TP53):c.85AAC[1] (p.Asn30del)
|
rs587782270
|
|
|
NM_000546.6(TP53):c.861G>T (p.Glu287Asp)
|
rs748891343
|
|
|
NM_000546.6(TP53):c.868C>G (p.Arg290Gly)
|
rs770374782
|
|
|
NM_000546.6(TP53):c.873G>C (p.Lys291Asn)
|
rs372613518
|
|
|
NM_000546.6(TP53):c.874A>G (p.Lys292Glu)
|
rs2073181505
|
|
|
NM_000546.6(TP53):c.877G>A (p.Gly293Arg)
|
rs587780076
|
|
|
NM_000546.6(TP53):c.880G>A (p.Glu294Lys)
|
rs1057520607
|
|
|
NM_000546.6(TP53):c.886C>T (p.His296Tyr)
|
rs672601296
|
|
|
NM_000546.6(TP53):c.892G>A (p.Glu298Lys)
|
rs201744589
|
|
|
NM_000546.6(TP53):c.910A>G (p.Thr304Ala)
|
rs587782654
|
|
|
NM_000546.6(TP53):c.919+3A>G
|
rs876659784
|
|
|
NM_000546.6(TP53):c.925C>T (p.Pro309Ser)
|
rs1555525012
|
|
|
NM_000546.6(TP53):c.931A>C (p.Asn311His)
|
rs1555525007
|
|
|
NM_000546.6(TP53):c.932A>G (p.Asn311Ser)
|
rs56184981
|
|
|
NM_000546.6(TP53):c.949C>T (p.Gln317Ter)
|
rs764735889
|
|
|
NM_000546.6(TP53):c.97-3C>T
|
rs786203749
|
|
|
NM_000546.6(TP53):c.974G>A (p.Gly325Glu)
|
rs121912659
|
|
|
NM_000546.6(TP53):c.986C>T (p.Thr329Ile)
|
rs969930693
|
|
|
NM_000546.6(TP53):c.993+326_993+341del
|
rs730882013
|
|
|
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)
|
rs574779350
|
|
|
NM_000548.5(TSC2):c.2520C>T (p.Ala840=)
|
rs147683438
|
|
|
NM_000548.5(TSC2):c.2640-4T>C
|
rs1596366489
|
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
|
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn)
|
rs147719291
|
|
|
NM_000548.5(TSC2):c.4570-13C>G
|
rs370549253
|
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
|
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly)
|
rs201144475
|
|
|
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.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.240T>C (p.Ser80=)
|
rs1553619424
|
|
|
NM_000551.4(VHL):c.276C>T (p.Asp92=)
|
rs1442093467
|
|
|
NM_000551.4(VHL):c.335_340+5del
|
rs869025632
|
|
|
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.366A>G (p.Ala122=)
|
rs1474241640
|
|
|
NM_000551.4(VHL):c.378T>C (p.Asp126=)
|
|
|
|
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.489C>G (p.Leu163=)
|
rs1575932067
|
|
|
NM_000551.4(VHL):c.509T>A (p.Val170Asp)
|
rs864321642
|
|
|
NM_000551.4(VHL):c.525C>T (p.Tyr175=)
|
rs5030835
|
|
|
NM_000551.4(VHL):c.576A>C (p.Pro192=)
|
rs1372952726
|
|
|
NM_000551.4(VHL):c.72C>T (p.Gly24=)
|
rs1375079282
|
|
|
NM_000551.4(VHL):c.87C>T (p.Gly29=)
|
rs987301475
|
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
|
NM_001005242.3(PKP2):c.406G>A (p.Val136Met)
|
rs567795321
|
|
|
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)
|
rs397516510
|
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
|
NM_001035.3(RYR2):c.5241C>G (p.Gly1747=)
|
rs533362755
|
|
|
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del)
|
rs794728835
|
|
|
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala)
|
rs200884440
|
|
|
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)
|
rs111588143
|
|
|
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg)
|
rs111588143
|
|
|
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)
|
rs747392139
|
|
|
NM_001048174.2(MUTYH):c.-6-3C>T
|
rs1196822993
|
|
|
NM_001048174.2(MUTYH):c.1010A>T (p.Lys337Met)
|
rs1553126588
|
|
|
NM_001048174.2(MUTYH):c.1013C>A (p.Pro338His)
|
rs1557464361
|
|
|
NM_001048174.2(MUTYH):c.1016C>T (p.Pro339Leu)
|
rs764941200
|
|
|
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe)
|
rs763862261
|
|
|
NM_001048174.2(MUTYH):c.1042G>A (p.Val348Ile)
|
rs1570382710
|
|
|
NM_001048174.2(MUTYH):c.1048G>A (p.Glu350Lys)
|
rs772113192
|
|
|
NM_001048174.2(MUTYH):c.1054C>G (p.Pro352Ala)
|
rs876658699
|
|
|
NM_001048174.2(MUTYH):c.1069G>C (p.Ala357Pro)
|
rs876659232
|
|
|
NM_001048174.2(MUTYH):c.1069G>T (p.Ala357Ser)
|
rs876659232
|
|
|
NM_001048174.2(MUTYH):c.1084G>T (p.Val362Leu)
|
rs1644891144
|
|
|
NM_001048174.2(MUTYH):c.1096A>G (p.Asn366Asp)
|
rs1644888393
|
|
|
NM_001048174.2(MUTYH):c.1103-5C>A
|
rs786202228
|
|
|
NM_001048174.2(MUTYH):c.1136T>C (p.Val379Ala)
|
rs1644853541
|
|
|
NM_001048174.2(MUTYH):c.1147C>T (p.Pro383Ser)
|
rs2149120668
|
|
|
NM_001048174.2(MUTYH):c.1168A>G (p.Lys390Glu)
|
rs864622671
|
|
|
NM_001048174.2(MUTYH):c.1172C>T (p.Ala391Val)
|
rs369299948
|
|
|
NM_001048174.2(MUTYH):c.1190A>G (p.Gln397Arg)
|
rs1205029214
|
|
|
NM_001048174.2(MUTYH):c.1193G>A (p.Arg398His)
|
rs748700385
|
|
|
NM_001048174.2(MUTYH):c.1196G>T (p.Trp399Leu)
|
rs876658787
|
|
|
NM_001048174.2(MUTYH):c.1207C>G (p.Leu403Val)
|
rs1280648051
|
|
|
NM_001048174.2(MUTYH):c.1214C>G (p.Ala405Gly)
|
rs1557459395
|
|
|
NM_001048174.2(MUTYH):c.1222C>A (p.Leu408Ile)
|
rs587782043
|
|
|
NM_001048174.2(MUTYH):c.1226G>T (p.Arg409Leu)
|
rs587782120
|
|
|
NM_001048174.2(MUTYH):c.122C>T (p.Ala41Val)
|
rs786203354
|
|
|
NM_001048174.2(MUTYH):c.1239G>A (p.Glu413=)
|
rs587782564
|
|
|
NM_001048174.2(MUTYH):c.1240-4C>G
|
rs1060504206
|
|
|
NM_001048174.2(MUTYH):c.1240-6_1240-3del
|
rs755222145
|
|
|
NM_001048174.2(MUTYH):c.1283A>T (p.Tyr428Phe)
|
rs1399651154
|
|
|
NM_001048174.2(MUTYH):c.1302G>A (p.Gly434=)
|
rs2149113333
|
|
|
NM_001048174.2(MUTYH):c.1305G>C (p.Gln435His)
|
rs1434384304
|
|
|
NM_001048174.2(MUTYH):c.1330G>C (p.Gly444Arg)
|
rs758262369
|
|
|
NM_001048174.2(MUTYH):c.1337G>A (p.Arg446His)
|
rs764276907
|
|
|
NM_001048174.2(MUTYH):c.133G>A (p.Glu45Lys)
|
rs1064794128
|
|
|
NM_001048174.2(MUTYH):c.1345A>T (p.Thr449Ser)
|
rs1553124948
|
|
|
NM_001048174.2(MUTYH):c.1346C>T (p.Thr449Met)
|
rs767747402
|
|
|
NM_001048174.2(MUTYH):c.1349A>G (p.Gln450Arg)
|
rs774607582
|
|
|
|