NM_000546.6(TP53):c.*1175A>C
|
rs78378222
|
0.00849
|
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln)
|
rs52822694
|
0.00673
|
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)
|
rs72677242
|
0.00641
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)
|
rs77951481
|
0.00528
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_001367624.2(ZNF469):c.11277C>T (p.Ser3759=)
|
rs372634401
|
0.00490
|
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)
|
rs141441058
|
0.00470
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00356
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala)
|
rs9282543
|
0.00352
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=)
|
rs150435442
|
0.00334
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)
|
rs45570339
|
0.00327
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)
|
rs1801696
|
0.00305
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=)
|
rs79327004
|
0.00290
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_003803.4(MYOM1):c.2384+4A>T
|
rs73373171
|
0.00286
|
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)
|
rs2229073
|
0.00281
|
NM_000218.3(KCNQ1):c.-5T>C
|
rs532941548
|
0.00267
|
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln)
|
rs138832868
|
0.00259
|
NM_001123385.2(BCOR):c.408C>T (p.Ala136=)
|
rs139802143
|
0.00258
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
|
rs72552027
|
0.00249
|
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser)
|
rs114926839
|
0.00239
|
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
NM_053025.4(MYLK):c.24C>G (p.Ala8=)
|
rs78118111
|
0.00229
|
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln)
|
rs142688906
|
0.00227
|
NM_001365276.2(TNXB):c.3272C>A (p.Ser1091Tyr)
|
rs61978561
|
0.00219
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
|
rs56157422
|
0.00217
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu)
|
rs61741974
|
0.00213
|
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)
|
rs144888041
|
0.00212
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg)
|
rs147131853
|
0.00200
|
NM_000041.4(APOE):c.137T>C (p.Leu46Pro)
|
rs769452
|
0.00199
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)
|
rs73945001
|
0.00195
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)
|
rs143326262
|
0.00181
|
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)
|
rs143858741
|
0.00180
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)
|
rs116541276
|
0.00169
|
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)
|
rs183359489
|
0.00160
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
NM_005502.4(ABCA1):c.2543-3C>T
|
rs139457469
|
0.00159
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)
|
rs143189394
|
0.00158
|
NM_002474.3(MYH11):c.2961C>T (p.Ile987=)
|
rs137988790
|
0.00155
|
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr)
|
rs1805378
|
0.00155
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)
|
rs560874115
|
0.00149
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)
|
rs76881554
|
0.00145
|
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)
|
rs767328866
|
0.00145
|
NM_022436.3(ABCG5):c.957C>T (p.Ser319=)
|
rs146131711
|
0.00145
|
NM_024301.5(FKRP):c.567C>T (p.Pro189=)
|
rs201454433
|
0.00144
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)
|
rs61757671
|
0.00142
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr)
|
rs142409885
|
0.00139
|
NM_003114.5(SPAG1):c.2265A>T (p.Lys755Asn)
|
rs148883126
|
0.00138
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)
|
rs200799870
|
0.00134
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=)
|
rs35006579
|
0.00133
|
NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp)
|
rs201115952
|
0.00133
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
NM_001367624.2(ZNF469):c.9516C>T (p.Ala3172=)
|
rs577913880
|
0.00131
|
NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln)
|
rs201636548
|
0.00131
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_002439.5(MSH3):c.2740A>G (p.Ile914Val)
|
rs148633216
|
0.00130
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn)
|
rs145236923
|
0.00129
|
NM_002439.5(MSH3):c.1313C>T (p.Ala438Val)
|
rs35121792
|
0.00128
|
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)
|
rs200243235
|
0.00128
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)
|
rs117307093
|
0.00123
|
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)
|
rs139677898
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser)
|
rs181166140
|
0.00121
|
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=)
|
rs200800133
|
0.00120
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
NM_005477.3(HCN4):c.1356C>T (p.Ser452=)
|
rs148453034
|
0.00116
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_018238.4(AGK):c.803C>A (p.Thr268Asn)
|
rs142779190
|
0.00115
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00113
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser)
|
rs115198722
|
0.00112
|
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)
|
rs144492145
|
0.00111
|
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=)
|
rs56198613
|
0.00111
|
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
|
rs146496197
|
0.00110
|
NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=)
|
rs185794149
|
0.00110
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)
|
rs147793030
|
0.00109
|
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=)
|
rs55923848
|
0.00109
|
NM_000384.3(APOB):c.2068-4T>A
|
rs41291161
|
0.00108
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_001458.5(FLNC):c.6998-5C>T
|
rs139030003
|
0.00106
|
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)
|
rs201889290
|
0.00106
|
NM_002439.5(MSH3):c.1160T>A (p.Phe387Tyr)
|
rs140543135
|
0.00105
|
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382
|
0.00104
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
NM_130468.4(CHST14):c.807T>C (p.Asp269=)
|
rs139229738
|
0.00104
|
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro)
|
rs186273940
|
0.00103
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=)
|
rs76048624
|
0.00102
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn)
|
rs143229915
|
0.00100
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)
|
rs143011005
|
0.00097
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)
|
rs189032342
|
0.00097
|
NM_003476.5(CSRP3):c.299G>A (p.Arg100His)
|
rs138218523
|
0.00097
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
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_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_001010874.5(TECRL):c.893T>C (p.Val298Ala)
|
rs146610448
|
0.00096
|
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)
|
rs111727915
|
0.00096
|
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=)
|
rs143495349
|
0.00096
|
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)
|
rs113005049
|
0.00096
|
NM_032578.4(MYPN):c.65C>G (p.Ala22Gly)
|
rs145142157
|
0.00096
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter)
|
rs140799936
|
0.00094
|
NM_022437.3(ABCG8):c.1941C>G (p.Val647=)
|
rs147991100
|
0.00094
|
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr)
|
rs61742247
|
0.00093
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys)
|
rs543370102
|
0.00093
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00093
|
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)
|
rs144875383
|
0.00093
|
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)
|
rs148164929
|
0.00092
|
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr)
|
rs199932922
|
0.00092
|
NM_003673.4(TCAP):c.353C>T (p.Ala118Val)
|
rs143233087
|
0.00092
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val)
|
rs113124819
|
0.00092
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
0.00091
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_005045.4(RELN):c.1001G>A (p.Arg334His)
|
rs146922726
|
0.00091
|
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=)
|
rs376078394
|
0.00090
|
NM_017802.4(DNAAF5):c.385G>C (p.Val129Leu)
|
rs1031852692
|
0.00090
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
NM_002439.5(MSH3):c.2005C>T (p.Arg669Trp)
|
rs35045151
|
0.00089
|
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)
|
rs372702466
|
0.00088
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00088
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter)
|
rs142038240
|
0.00088
|
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
|
rs121909281
|
0.00088
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp)
|
rs142852982
|
0.00086
|
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)
|
rs201905890
|
0.00086
|
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)
|
rs148104494
|
0.00086
|
NM_006514.4(SCN10A):c.3859G>A (p.Val1287Ile)
|
rs145032037
|
0.00086
|
NM_017636.4(TRPM4):c.1376G>A (p.Arg459His)
|
rs142312281
|
0.00086
|
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)
|
rs104894680
|
0.00086
|
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)
|
rs72544141
|
0.00085
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)
|
rs142604625
|
0.00084
|
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=)
|
rs45602336
|
0.00084
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)
|
rs201418838
|
0.00084
|
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)
|
rs567650961
|
0.00084
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00083
|
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)
|
rs111606207
|
0.00083
|
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)
|
rs200445568
|
0.00083
|
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)
|
rs371719028
|
0.00083
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00083
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)
|
rs200596619
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=)
|
rs200459890
|
0.00080
|
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)
|
rs138951890
|
0.00080
|
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)
|
rs187180708
|
0.00079
|
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)
|
rs147366706
|
0.00079
|
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=)
|
rs150069819
|
0.00078
|
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)
|
rs199874928
|
0.00078
|
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=)
|
rs151314714
|
0.00078
|
NM_005732.4(RAD50):c.3036+5G>A
|
rs181016343
|
0.00078
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00078
|
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln)
|
rs143275858
|
0.00078
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)
|
rs149008060
|
0.00077
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)
|
rs146333579
|
0.00076
|
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)
|
rs201505306
|
0.00076
|
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)
|
rs145890206
|
0.00076
|
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)
|
rs79324540
|
0.00076
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)
|
rs148783445
|
0.00074
|
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)
|
rs143269044
|
0.00074
|
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)
|
rs202205643
|
0.00073
|
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)
|
rs150199251
|
0.00073
|
NM_020975.6(RET):c.1124T>A (p.Leu375Gln)
|
rs142338976
|
0.00073
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
NM_001148.6(ANK2):c.669+3A>G
|
rs370475820
|
0.00072
|
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala)
|
rs273585627
|
0.00072
|
NM_020433.5(JPH2):c.128A>G (p.Asn43Ser)
|
rs138992849
|
0.00072
|
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys)
|
rs61741164
|
0.00071
|
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)
|
rs370996795
|
0.00071
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00071
|
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)
|
rs78102263
|
0.00071
|
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)
|
rs148781346
|
0.00071
|
NM_001005242.3(PKP2):c.1379-2067G>A
|
rs138538072
|
0.00070
|
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)
|
rs121434525
|
0.00070
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu)
|
rs200454446
|
0.00070
|
NM_002471.4(MYH6):c.3980C>T (p.Ala1327Val)
|
rs148558068
|
0.00070
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln)
|
rs147809756
|
0.00069
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)
|
rs200287703
|
0.00069
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met)
|
rs202148932
|
0.00069
|
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=)
|
rs191266255
|
0.00069
|
NM_001277115.2(DNAH11):c.9939G>A (p.Val3313=)
|
rs200349268
|
0.00069
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00069
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu)
|
rs149678604
|
0.00068
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)
|
rs201816596
|
0.00068
|
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln)
|
rs149641783
|
0.00068
|
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys)
|
rs202223616
|
0.00068
|
NM_004990.4(MARS1):c.2391A>C (p.Thr797=)
|
rs140573721
|
0.00068
|
NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln)
|
rs200507617
|
0.00068
|
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu)
|
rs112700048
|
0.00068
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)
|
rs137878131
|
0.00067
|
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn)
|
rs141724500
|
0.00067
|
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)
|
rs41286200
|
0.00067
|
NM_004415.4(DSP):c.782C>T (p.Ala261Val)
|
rs139509870
|
0.00067
|
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)
|
rs45563942
|
0.00066
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)
|
rs202238753
|
0.00066
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr)
|
rs185586839
|
0.00066
|
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)
|
rs200491758
|
0.00066
|
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)
|
rs201340369
|
0.00066
|
NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile)
|
rs146851019
|
0.00066
|
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=)
|
rs139935771
|
0.00066
|
NM_024301.5(FKRP):c.606G>A (p.Leu202=)
|
rs140084192
|
0.00066
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
NM_001365276.2(TNXB):c.8285A>G (p.His2762Arg)
|
rs376978176
|
0.00065
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
NM_022436.3(ABCG5):c.510C>T (p.Ala170=)
|
rs147061424
|
0.00065
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00064
|
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)
|
rs377180286
|
0.00064
|
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)
|
rs73036377
|
0.00064
|
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)
|
rs200266868
|
0.00064
|
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser)
|
rs201503021
|
0.00064
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
|
rs140698625
|
0.00064
|
NM_172201.2(KCNE2):c.317C>T (p.Ser106Leu)
|
rs183427173
|
0.00064
|
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)
|
rs150528041
|
0.00064
|
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys)
|
rs199473505
|
0.00063
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu)
|
rs12714097
|
0.00063
|
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=)
|
rs200330469
|
0.00063
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_001035.3(RYR2):c.615C>T (p.Ala205=)
|
rs112680790
|
0.00063
|
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn)
|
rs112009206
|
0.00063
|
NM_001267550.2(TTN):c.55659G>A (p.Val18553=)
|
rs368450420
|
0.00063
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)
|
rs200450022
|
0.00063
|
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)
|
rs182549226
|
0.00063
|
NM_001367624.2(ZNF469):c.1406G>C (p.Ser469Thr)
|
rs770926082
|
0.00063
|
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu)
|
rs138776588
|
0.00063
|
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met)
|
rs151097256
|
0.00063
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=)
|
rs375534041
|
0.00062
|
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)
|
rs373099440
|
0.00062
|
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile)
|
rs751346260
|
0.00062
|
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)
|
rs200662317
|
0.00062
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
NM_024301.5(FKRP):c.969C>T (p.Arg323=)
|
rs532054402
|
0.00062
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_001291303.3(FAT4):c.11260A>G (p.Ser3754Gly)
|
rs79909102
|
0.00061
|
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met)
|
rs121912575
|
0.00061
|
NM_001367624.2(ZNF469):c.6829G>A (p.Val2277Ile)
|
rs760816769
|
0.00061
|
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
0.00061
|
NM_015627.3(LDLRAP1):c.284G>A (p.Arg95Gln)
|
rs139877665
|
0.00061
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_005502.4(ABCA1):c.99A>G (p.Leu33=)
|
rs141151519
|
0.00060
|
NM_006073.4(TRDN):c.277C>T (p.Arg93Cys)
|
rs370788759
|
0.00060
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)
|
rs200682458
|
0.00059
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser)
|
rs140770089
|
0.00058
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00058
|
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu)
|
rs771000169
|
0.00058
|
NM_001369.3(DNAH5):c.12878G>A (p.Ser4293Asn)
|
rs140279971
|
0.00058
|
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)
|
rs202227966
|
0.00058
|
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)
|
rs201673771
|
0.00058
|
NM_003480.4(MFAP5):c.12G>A (p.Leu4=)
|
rs148879406
|
0.00058
|
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)
|
rs143345726
|
0.00058
|
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile)
|
rs111627256
|
0.00058
|
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln)
|
rs147596628
|
0.00058
|
NM_213607.3(CCDC103):c.275C>T (p.Pro92Leu)
|
rs142342712
|
0.00058
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)
|
rs202176504
|
0.00057
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_001367624.2(ZNF469):c.6326A>G (p.Asp2109Gly)
|
rs755640019
|
0.00057
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)
|
rs150093365
|
0.00057
|
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=)
|
rs201987555
|
0.00057
|
NM_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
NM_181426.2(CCDC39):c.900T>A (p.His300Gln)
|
rs201684898
|
0.00057
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_000492.4(CFTR):c.*2G>A
|
rs150914702
|
0.00056
|
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)
|
rs56019808
|
0.00056
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
NM_001367624.2(ZNF469):c.1094C>T (p.Pro365Leu)
|
rs567183966
|
0.00056
|
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln)
|
rs571622809
|
0.00056
|
NM_004006.3(DMD):c.8436T>C (p.Leu2812=)
|
rs139365076
|
0.00056
|
NM_005477.3(HCN4):c.2739G>A (p.Ala913=)
|
rs373411041
|
0.00056
|
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)
|
rs61746358
|
0.00056
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)
|
rs72646849
|
0.00055
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
NM_006514.4(SCN10A):c.1138G>A (p.Val380Ile)
|
rs142276689
|
0.00055
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp)
|
rs150124840
|
0.00054
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser)
|
rs150576530
|
0.00054
|
NM_006514.4(SCN10A):c.853G>A (p.Glu285Lys)
|
rs146151670
|
0.00054
|
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr)
|
rs201968775
|
0.00054
|
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser)
|
rs200461617
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000059.4(BRCA2):c.7435+6G>A
|
rs81002852
|
0.00053
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_001005242.3(PKP2):c.1379-2054C>T
|
rs144620127
|
0.00053
|
NM_001042492.3(NF1):c.6379A>G (p.Ile2127Val)
|
rs200022550
|
0.00053
|
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg)
|
rs370077023
|
0.00053
|
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)
|
rs201252375
|
0.00053
|
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val)
|
rs149615862
|
0.00052
|
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)
|
rs201035511
|
0.00052
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys)
|
rs376513000
|
0.00052
|
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=)
|
rs144893234
|
0.00052
|
NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His)
|
rs201971987
|
0.00052
|
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly)
|
rs143210369
|
0.00052
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
NM_000384.3(APOB):c.895T>G (p.Phe299Val)
|
rs72653060
|
0.00051
|
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=)
|
rs370297602
|
0.00051
|
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys)
|
rs202184174
|
0.00051
|
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)
|
rs397516621
|
0.00051
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu)
|
rs192788942
|
0.00051
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)
|
rs72648228
|
0.00051
|
NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn)
|
rs202227084
|
0.00051
|
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)
|
rs200467041
|
0.00051
|
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)
|
rs188891842
|
0.00051
|
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val)
|
rs140990974
|
0.00051
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
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_022437.3(ABCG8):c.1416C>T (p.Tyr472=)
|
rs144399404
|
0.00051
|
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=)
|
rs147582834
|
0.00051
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_000465.4(BARD1):c.144G>A (p.Leu48=)
|
rs151168457
|
0.00050
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn)
|
rs144848998
|
0.00050
|
NM_001035.3(RYR2):c.9450-3T>C
|
rs188671846
|
0.00049
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys)
|
rs148501787
|
0.00049
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00049
|
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)
|
rs140575619
|
0.00049
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
NM_001105206.3(LAMA4):c.3055T>C (p.Tyr1019His)
|
rs73532636
|
0.00048
|
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly)
|
rs72646822
|
0.00048
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)
|
rs200054604
|
0.00048
|
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=)
|
rs147454311
|
0.00048
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
NM_000722.4(CACNA2D1):c.2397T>A (p.Val799=)
|
rs191213592
|
0.00047
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
NM_001365276.2(TNXB):c.5938G>A (p.Ala1980Thr)
|
rs148556332
|
0.00047
|
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys)
|
rs147854826
|
0.00047
|
NM_174934.4(SCN4B):c.542T>C (p.Leu181Pro)
|
rs61065977
|
0.00047
|
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser)
|
rs371513491
|
0.00046
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00046
|
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)
|
rs145897390
|
0.00046
|
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)
|
rs186624523
|
0.00046
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)
|
rs73036368
|
0.00046
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00046
|
NM_004006.3(DMD):c.3162+4A>G
|
rs189048508
|
0.00046
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
NM_022436.3(ABCG5):c.99G>A (p.Pro33=)
|
rs149907931
|
0.00046
|
NM_022773.4(LMF1):c.1405G>A (p.Ala469Thr)
|
rs181731943
|
0.00046
|
NM_130468.4(CHST14):c.635T>C (p.Val212Ala)
|
rs144629123
|
0.00046
|
NM_000057.4(BLM):c.645C>T (p.Ser215=)
|
rs56218710
|
0.00045
|
NM_000214.3(JAG1):c.1755C>T (p.Asn585=)
|
rs142808131
|
0.00045
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro)
|
rs148069478
|
0.00045
|
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=)
|
rs184684058
|
0.00045
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu)
|
rs139504522
|
0.00045
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val)
|
rs372419267
|
0.00045
|
NM_001267550.2(TTN):c.80722A>C (p.Arg26908=)
|
rs573877174
|
0.00045
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00045
|
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=)
|
rs374094732
|
0.00045
|
NM_001367624.2(ZNF469):c.8695G>A (p.Gly2899Ser)
|
rs202129382
|
0.00045
|
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)
|
rs199917289
|
0.00045
|
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)
|
rs200237564
|
0.00045
|
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)
|
rs149276836
|
0.00045
|
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys)
|
rs139395045
|
0.00045
|
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys)
|
rs199638465
|
0.00045
|
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)
|
rs144182966
|
0.00045
|
NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr)
|
rs138407155
|
0.00044
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys)
|
rs199643269
|
0.00044
|
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)
|
rs192152102
|
0.00044
|
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser)
|
rs149202369
|
0.00044
|
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp)
|
rs201874722
|
0.00044
|
NM_003098.3(SNTA1):c.619C>T (p.Arg207Trp)
|
rs139537086
|
0.00044
|
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)
|
rs181571822
|
0.00044
|
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val)
|
rs201955081
|
0.00044
|
NM_020433.5(JPH2):c.1380G>A (p.Ala460=)
|
rs531877510
|
0.00044
|
NM_000039.3(APOA1):c.178T>G (p.Ser60Ala)
|
rs199759119
|
0.00043
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser)
|
rs145301300
|
0.00043
|
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=)
|
rs202047865
|
0.00043
|
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp)
|
rs575820215
|
0.00043
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
NM_002528.7(NTHL1):c.712G>A (p.Ala238Thr)
|
rs147559648
|
0.00043
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr)
|
rs376220834
|
0.00043
|
NM_033337.3(CAV3):c.417C>T (p.Val139=)
|
rs147250678
|
0.00043
|
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)
|
rs141069645
|
0.00042
|
NM_001103.4(ACTN2):c.893G>A (p.Arg298His)
|
rs142482143
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_001365276.2(TNXB):c.8012C>T (p.Ala2671Val)
|
rs201037895
|
0.00042
|
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)
|
rs200529564
|
0.00042
|
NM_004006.3(DMD):c.2824A>G (p.Met942Val)
|
rs371648742
|
0.00042
|
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe)
|
rs200606811
|
0.00042
|
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg)
|
rs143635917
|
0.00042
|
NM_000245.4(MET):c.103A>T (p.Met35Leu)
|
rs375353223
|
0.00041
|
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu)
|
rs199473320
|
0.00041
|
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile)
|
rs45471994
|
0.00041
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)
|
rs41289299
|
0.00041
|
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln)
|
rs370390570
|
0.00041
|
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)
|
rs201482015
|
0.00041
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
NM_001267550.2(TTN):c.92241T>C (p.Gly30747=)
|
rs373311745
|
0.00041
|
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)
|
rs202096200
|
0.00041
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00041
|
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)
|
rs199550149
|
0.00041
|
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)
|
rs35902379
|
0.00041
|
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)
|
rs202111717
|
0.00041
|
NM_002471.4(MYH6):c.210T>C (p.Thr70=)
|
rs147397431
|
0.00041
|
NM_002471.4(MYH6):c.643-5C>T
|
rs199859986
|
0.00041
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
NM_003098.3(SNTA1):c.784A>C (p.Thr262Pro)
|
rs200316080
|
0.00041
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)
|
rs374355537
|
0.00041
|
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His)
|
rs139861061
|
0.00041
|
NM_016203.4(PRKAG2):c.946+3A>G
|
rs376173303
|
0.00041
|
NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter)
|
rs769917929
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_175914.5(HNF4A):c.726G>A (p.Val242=)
|
rs145280017
|
0.00041
|
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=)
|
rs138357977
|
0.00040
|
NM_000214.3(JAG1):c.1920C>T (p.Asn640=)
|
rs372121353
|
0.00040
|
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)
|
rs150264233
|
0.00040
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
NM_001368067.1(LDB3):c.771G>A (p.Thr257=)
|
rs144445130
|
0.00040
|
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)
|
rs200897773
|
0.00040
|
NM_004990.4(MARS1):c.986C>A (p.Pro329His)
|
rs145260922
|
0.00040
|
NM_000038.6(APC):c.2847G>T (p.Met949Ile)
|
rs147394539
|
0.00039
|
NM_000235.4(LIPA):c.891C>T (p.Ser297=)
|
rs145066614
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly)
|
rs150084275
|
0.00039
|
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)
|
rs141314684
|
0.00039
|
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln)
|
rs181785201
|
0.00039
|
NM_001367624.2(ZNF469):c.2168G>C (p.Ser723Thr)
|
rs777747160
|
0.00039
|
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met)
|
rs140345677
|
0.00039
|
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala)
|
rs201804994
|
0.00039
|
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr)
|
rs183061595
|
0.00039
|
NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys)
|
rs36049457
|
0.00039
|
NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser)
|
rs878855039
|
0.00039
|
NM_017946.4(FKBP14):c.568_570del (p.Lys190del)
|
rs762279651
|
0.00039
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu)
|
rs199626372
|
0.00038
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
NM_000152.5(GAA):c.600C>T (p.Val200=)
|
rs150895924
|
0.00038
|
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp)
|
rs370338674
|
0.00038
|
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)
|
rs199473600
|
0.00038
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
NM_001267550.2(TTN):c.180T>C (p.Asp60=)
|
rs144750850
|
0.00038
|
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala)
|
rs200257398
|
0.00038
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu)
|
rs143919208
|
0.00038
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
NM_006514.4(SCN10A):c.55G>A (p.Glu19Lys)
|
rs141810266
|
0.00038
|
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)
|
rs141016088
|
0.00038
|
NM_144997.7(FLCN):c.1155G>T (p.Gln385His)
|
rs141250189
|
0.00038
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)
|
rs142896669
|
0.00037
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)
|
rs143186270
|
0.00037
|
NM_001277115.2(DNAH11):c.11884G>A (p.Val3962Met)
|
rs199719583
|
0.00037
|
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=)
|
rs189914793
|
0.00037
|
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)
|
rs201971114
|
0.00037
|
NM_001943.5(DSG2):c.716T>C (p.Val239Ala)
|
rs200997703
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_002907.4(RECQL):c.809G>A (p.Cys270Tyr)
|
rs149763880
|
0.00037
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)
|
rs144415484
|
0.00037
|
NM_004990.4(MARS1):c.1127G>A (p.Arg376Gln)
|
rs150428018
|
0.00037
|
NM_144997.7(FLCN):c.1201C>T (p.Arg401Cys)
|
rs143183215
|
0.00037
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met)
|
rs143709408
|
0.00036
|
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val)
|
rs370412052
|
0.00036
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
NM_000384.3(APOB):c.4187T>C (p.Val1396Ala)
|
rs144034290
|
0.00036
|
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)
|
rs121918282
|
0.00036
|
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu)
|
rs371951525
|
0.00036
|
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly)
|
rs148631577
|
0.00036
|
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)
|
rs190421400
|
0.00036
|
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)
|
rs199508062
|
0.00036
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)
|
rs200075429
|
0.00036
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
NM_005477.3(HCN4):c.2181C>T (p.His727=)
|
rs140354126
|
0.00036
|
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn)
|
rs201021891
|
0.00036
|
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr)
|
rs201913959
|
0.00036
|
NM_006514.4(SCN10A):c.251C>T (p.Pro84Leu)
|
rs140609990
|
0.00036
|
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro)
|
rs143764931
|
0.00036
|
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)
|
rs139922045
|
0.00036
|
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln)
|
rs201953758
|
0.00036
|
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)
|
rs146046068
|
0.00036
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
NM_000088.4(COL1A1):c.334-5C>A
|
rs115997082
|
0.00035
|
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
|
rs2069544
|
0.00035
|
NM_000535.7(PMS2):c.1864A>G (p.Met622Val)
|
rs370853512
|
0.00035
|
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys)
|
rs376800688
|
0.00035
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)
|
rs183013408
|
0.00035
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00035
|
NM_001277115.2(DNAH11):c.6274-5T>C
|
rs74365849
|
0.00035
|
NM_001365276.2(TNXB):c.9617A>G (p.Gln3206Arg)
|
rs201902411
|
0.00035
|
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro)
|
rs146817002
|
0.00035
|
NM_004006.3(DMD):c.9564-5A>G
|
rs201390145
|
0.00035
|
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr)
|
rs139965373
|
0.00035
|
NM_020433.5(JPH2):c.1015G>A (p.Gly339Ser)
|
rs368290474
|
0.00035
|
NM_022437.3(ABCG8):c.729C>T (p.Leu243=)
|
rs145482605
|
0.00035
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)
|
rs141122361
|
0.00034
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_000384.3(APOB):c.11720A>G (p.Asp3907Gly)
|
rs61746686
|
0.00034
|
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)
|
rs144455258
|
0.00034
|
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)
|
rs201793958
|
0.00034
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
NM_001277115.2(DNAH11):c.1749T>A (p.Val583=)
|
rs368294823
|
0.00034
|
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg)
|
rs773925755
|
0.00034
|
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly)
|
rs140223281
|
0.00034
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00034
|
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)
|
rs138145424
|
0.00034
|
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)
|
rs113967308
|
0.00034
|
NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg)
|
rs144953114
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys)
|
rs112122950
|
0.00034
|
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)
|
rs201756175
|
0.00034
|
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)
|
rs151282801
|
0.00034
|
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)
|
rs369704754
|
0.00033
|
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu)
|
rs371668705
|
0.00033
|
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro)
|
rs185469456
|
0.00033
|
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr)
|
rs374299911
|
0.00033
|
NM_006514.4(SCN10A):c.472T>G (p.Tyr158Asp)
|
rs202192818
|
0.00033
|
NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln)
|
rs201955990
|
0.00033
|
NM_022436.3(ABCG5):c.442C>T (p.Leu148=)
|
rs143444046
|
0.00033
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000214.3(JAG1):c.2604T>C (p.Ser868=)
|
rs138189639
|
0.00032
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)
|
rs200588235
|
0.00032
|
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)
|
rs193212275
|
0.00032
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
NM_001267550.2(TTN):c.72723C>G (p.Val24241=)
|
rs372701206
|
0.00032
|
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)
|
rs369941201
|
0.00032
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
NM_001367624.2(ZNF469):c.216G>T (p.Glu72Asp)
|
rs543285355
|
0.00032
|
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr)
|
rs201540905
|
0.00032
|
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met)
|
rs375200875
|
0.00032
|
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile)
|
rs200568988
|
0.00032
|
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)
|
rs373211307
|
0.00032
|
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro)
|
rs202063433
|
0.00032
|
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu)
|
rs377716628
|
0.00032
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)
|
rs116283249
|
0.00032
|
NM_004982.4(KCNJ8):c.1036G>A (p.Val346Ile)
|
rs147316959
|
0.00032
|
NM_006514.4(SCN10A):c.1858G>A (p.Val620Ile)
|
rs151303346
|
0.00032
|
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg)
|
rs146203427
|
0.00032
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser)
|
rs201586263
|
0.00032
|
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala)
|
rs146206499
|
0.00031
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala)
|
rs1800214
|
0.00031
|
NM_000214.3(JAG1):c.82G>C (p.Val28Leu)
|
rs142855305
|
0.00031
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=)
|
rs202194703
|
0.00031
|
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys)
|
rs554690506
|
0.00031
|
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)
|
rs148824162
|
0.00031
|
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=)
|
rs377391143
|
0.00031
|
NM_001267550.2(TTN):c.26019C>T (p.His8673=)
|
rs370266918
|
0.00031
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp)
|
rs375944265
|
0.00031
|
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)
|
rs185620750
|
0.00031
|
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)
|
rs372382315
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00031
|
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His)
|
rs141817409
|
0.00031
|
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)
|
rs72648251
|
0.00031
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=)
|
rs147865593
|
0.00031
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_006514.4(SCN10A):c.179G>A (p.Cys60Tyr)
|
rs145900411
|
0.00031
|
NM_014908.4(DOLK):c.1394G>A (p.Arg465His)
|
rs148930043
|
0.00031
|
NM_174934.4(SCN4B):c.607G>A (p.Val203Met)
|
rs150312046
|
0.00031
|
NM_000546.6(TP53):c.173C>G (p.Pro58Arg)
|
rs144386518
|
0.00030
|
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)
|
rs372686070
|
0.00030
|
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)
|
rs72646870
|
0.00030
|
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)
|
rs372782502
|
0.00030
|
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)
|
rs180828370
|
0.00030
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
NM_001267550.2(TTN):c.88733G>A (p.Arg29578His)
|
rs374147064
|
0.00030
|
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)
|
rs75022916
|
0.00030
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
NM_005732.4(RAD50):c.1154G>A (p.Arg385His)
|
rs150030986
|
0.00030
|
NM_006514.4(SCN10A):c.2428G>T (p.Gly810Trp)
|
rs145712124
|
0.00030
|
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu)
|
rs143068551
|
0.00030
|
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys)
|
rs140644696
|
0.00029
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_000214.3(JAG1):c.2043G>A (p.Thr681=)
|
rs151291264
|
0.00029
|
NM_000245.4(MET):c.2198C>T (p.Thr733Ile)
|
rs201271860
|
0.00029
|
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=)
|
rs36212064
|
0.00029
|
NM_000384.3(APOB):c.914A>G (p.Lys305Arg)
|
rs199937544
|
0.00029
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr)
|
rs200865354
|
0.00029
|
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)
|
rs143477104
|
0.00029
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile)
|
rs147205617
|
0.00029
|
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
0.00029
|
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln)
|
rs148405740
|
0.00029
|
NM_001148.6(ANK2):c.11009C>A (p.Thr3670Asn)
|
rs45608232
|
0.00029
|
NM_001148.6(ANK2):c.9825T>G (p.Asp3275Glu)
|
rs149043752
|
0.00029
|
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)
|
rs188917199
|
0.00029
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)
|
rs375173874
|
0.00029
|
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)
|
rs201804005
|
0.00029
|
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg)
|
rs375204371
|
0.00029
|
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser)
|
rs377226540
|
0.00029
|
NM_001267550.2(TTN):c.79085T>C (p.Met26362Thr)
|
rs529839486
|
0.00029
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
NM_001367624.2(ZNF469):c.6629T>C (p.Leu2210Pro)
|
rs564413710
|
0.00029
|
NM_001367624.2(ZNF469):c.845G>A (p.Gly282Glu)
|
rs757999676
|
0.00029
|
NM_002471.4(MYH6):c.5410C>A (p.Gln1804Lys)
|
rs144571463
|
0.00029
|
NM_002471.4(MYH6):c.831G>T (p.Gln277His)
|
rs140660481
|
0.00029
|
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)
|
rs41554817
|
0.00029
|
NM_002834.5(PTPN11):c.48A>G (p.Ala16=)
|
rs372736227
|
0.00029
|
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp)
|
rs147675550
|
0.00029
|
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr)
|
rs200713724
|
0.00029
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=)
|
rs140711767
|
0.00029
|
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln)
|
rs190746040
|
0.00029
|
NM_023036.6(DNAI2):c.828G>A (p.Thr276=)
|
rs149918986
|
0.00029
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)
|
rs141140415
|
0.00029
|
NM_144997.7(FLCN):c.931C>T (p.Pro311Ser)
|
rs140246224
|
0.00029
|
NM_174936.4(PCSK9):c.399+4A>G
|
rs376653409
|
0.00029
|
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)
|
rs192620988
|
0.00028
|
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg)
|
rs199473669
|
0.00028
|
NM_000527.5(LDLR):c.940+16G>A
|
rs72658859
|
0.00028
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001105206.3(LAMA4):c.4436G>A (p.Arg1479His)
|
rs140346737
|
0.00028
|
NM_001148.6(ANK2):c.1910C>T (p.Ala637Val)
|
rs150488571
|
0.00028
|
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr)
|
rs191699632
|
0.00028
|
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)
|
rs376857956
|
0.00028
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)
|
rs202200861
|
0.00028
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00028
|
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=)
|
rs200978576
|
0.00028
|
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=)
|
rs377281121
|
0.00028
|
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val)
|
rs75487328
|
0.00028
|
NM_004281.4(BAG3):c.771C>T (p.Pro257=)
|
rs200212999
|
0.00028
|
NM_020778.5(ALPK3):c.1738G>A (p.Gly580Arg)
|
rs143892088
|
0.00028
|
NM_170707.4(LMNA):c.192C>T (p.Thr64=)
|
rs137969290
|
0.00028
|
NM_000384.3(APOB):c.9883T>C (p.Tyr3295His)
|
rs186299244
|
0.00027
|
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile)
|
rs149101812
|
0.00027
|
NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly)
|
rs138438183
|
0.00027
|
NM_001267550.2(TTN):c.102696C>T (p.Val34232=)
|
rs202180775
|
0.00027
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)
|
rs374058726
|
0.00027
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00027
|
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)
|
rs145508517
|
0.00027
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr)
|
rs149569984
|
0.00027
|
NM_004304.5(ALK):c.4646G>T (p.Arg1549Ile)
|
rs199646095
|
0.00027
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00027
|
NM_015450.3(POT1):c.340A>G (p.Ile114Val)
|
rs146552802
|
0.00027
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys)
|
rs201097154
|
0.00027
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
NM_000117.3(EMD):c.646G>A (p.Gly216Arg)
|
rs147920229
|
0.00026
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)
|
rs397515922
|
0.00026
|
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln)
|
rs199473331
|
0.00026
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln)
|
rs199776761
|
0.00026
|
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala)
|
rs144651139
|
0.00026
|
NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser)
|
rs776091285
|
0.00026
|
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser)
|
rs149433837
|
0.00026
|
NM_001202.6(BMP4):c.124G>C (p.Ala42Pro)
|
rs140920120
|
0.00026
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser)
|
rs201298767
|
0.00026
|
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala)
|
rs150667217
|
0.00026
|
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)
|
rs200042932
|
0.00026
|
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)
|
rs72677229
|
0.00026
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)
|
rs370809363
|
0.00026
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His)
|
rs367603302
|
0.00026
|
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro)
|
rs372541479
|
0.00026
|
NM_001267550.2(TTN):c.57263-4C>T
|
rs373552048
|
0.00026
|
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)
|
rs368867993
|
0.00026
|
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=)
|
rs56052239
|
0.00026
|
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)
|
rs370771532
|
0.00026
|
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=)
|
rs371884545
|
0.00026
|
NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser)
|
rs191263181
|
0.00026
|
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)
|
rs369223412
|
0.00026
|
NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser)
|
rs183939928
|
0.00026
|
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)
|
rs145133144
|
0.00026
|
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)
|
rs201400267
|
0.00026
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile)
|
rs182683829
|
0.00026
|
NM_001367624.2(ZNF469):c.4855G>A (p.Glu1619Lys)
|
rs759327672
|
0.00026
|
NM_001367624.2(ZNF469):c.812T>C (p.Val271Ala)
|
rs985569633
|
0.00026
|
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
|
rs201213079
|
0.00026
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala)
|
rs139633545
|
0.00026
|
NM_002834.5(PTPN11):c.333-3T>C
|
rs146749153
|
0.00026
|
NM_004304.5(ALK):c.310C>T (p.Pro104Ser)
|
rs576431612
|
0.00026
|
NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu)
|
rs3729754
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser)
|
rs144934321
|
0.00026
|
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)
|
rs146370443
|
0.00026
|
NM_005732.4(RAD50):c.2288G>A (p.Arg763His)
|
rs141989813
|
0.00026
|
NM_005751.5(AKAP9):c.4826G>A (p.Arg1609Lys)
|
rs148146011
|
0.00026
|
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala)
|
rs138251566
|
0.00026
|
NM_014000.3(VCL):c.1297C>T (p.Arg433Cys)
|
rs139559937
|
0.00026
|
NM_022437.3(ABCG8):c.888G>T (p.Ala296=)
|
rs143182625
|
0.00026
|
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=)
|
rs200874968
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_032578.4(MYPN):c.3818C>T (p.Pro1273Leu)
|
rs148942084
|
0.00026
|
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe)
|
rs145638628
|
0.00026
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)
|
rs145229963
|
0.00025
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)
|
rs79688066
|
0.00025
|
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=)
|
rs141633456
|
0.00025
|
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=)
|
rs370576211
|
0.00025
|
NM_001077653.2(TBX20):c.414G>A (p.Ser138=)
|
rs144597480
|
0.00025
|
NM_001134363.3(RBM20):c.1807G>A (p.Gly603Arg)
|
rs558674954
|
0.00025
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=)
|
rs368984050
|
0.00025
|
NM_001267550.2(TTN):c.44497G>A (p.Val14833Ile)
|
rs373168798
|
0.00025
|
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg)
|
rs368502650
|
0.00025
|
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)
|
rs371031259
|
0.00025
|
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)
|
rs148205441
|
0.00025
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
NM_004006.3(DMD):c.8076A>G (p.Gln2692=)
|
rs144518527
|
0.00025
|
NM_005732.4(RAD50):c.2177G>A (p.Arg726His)
|
rs28903092
|
0.00025
|
NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys)
|
rs201977551
|
0.00025
|
NM_174934.4(SCN4B):c.194A>T (p.His65Leu)
|
rs112363898
|
0.00025
|
NM_000214.3(JAG1):c.399G>A (p.Thr133=)
|
rs763154396
|
0.00024
|
NM_000235.4(LIPA):c.396C>G (p.Leu132=)
|
rs201603238
|
0.00024
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)
|
rs199473113
|
0.00024
|
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)
|
rs148498577
|
0.00024
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)
|
rs193922635
|
0.00024
|
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)
|
rs200271618
|
0.00024
|
NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr)
|
rs199527708
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp)
|
rs151193056
|
0.00024
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00024
|
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=)
|
rs75948012
|
0.00024
|
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln)
|
rs199788826
|
0.00024
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys)
|
rs202187398
|
0.00024
|
NM_001267550.2(TTN):c.95884A>G (p.Asn31962Asp)
|
rs369087584
|
0.00024
|
NM_001365276.2(TNXB):c.8432G>A (p.Arg2811Gln)
|
rs200522966
|
0.00024
|
NM_001367624.2(ZNF469):c.2804A>G (p.Glu935Gly)
|
rs773608978
|
0.00024
|
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr)
|
rs143295106
|
0.00024
|
NM_001374736.1(DST):c.5203A>G (p.Ser1735Gly)
|
rs369218541
|
0.00024
|
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr)
|
rs201738475
|
0.00024
|
NM_001458.5(FLNC):c.2733G>A (p.Lys911=)
|
rs374135903
|
0.00024
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
NM_004006.3(DMD):c.6052C>A (p.Leu2018Ile)
|
rs367702968
|
0.00024
|
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)
|
rs137905486
|
0.00024
|
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys)
|
rs117749531
|
0.00024
|
NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp)
|
rs771475772
|
0.00024
|
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu)
|
rs149217423
|
0.00024
|
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser)
|
rs137860861
|
0.00024
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
0.00024
|
NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn)
|
rs199605881
|
0.00024
|
NM_020778.5(ALPK3):c.2528G>A (p.Arg843Gln)
|
rs114988007
|
0.00024
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
NM_024334.3(TMEM43):c.564C>T (p.Gly188=)
|
rs143124744
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)
|
rs78683075
|
0.00024
|
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)
|
rs74315447
|
0.00024
|
NM_213607.3(CCDC103):c.31G>C (p.Ala11Pro)
|
rs146015856
|
0.00024
|
NM_000143.4(FH):c.4T>C (p.Tyr2His)
|
rs112335468
|
0.00023
|
NM_000335.5(SCN5A):c.496G>A (p.Ala166Thr)
|
rs201232332
|
0.00023
|
NM_001005242.3(PKP2):c.1379-2025G>A
|
rs537458442
|
0.00023
|
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)
|
rs202020477
|
0.00023
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00023
|
NM_001148.6(ANK2):c.10703G>A (p.Arg3568Gln)
|
rs142612379
|
0.00023
|
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)
|
rs34591340
|
0.00023
|
NM_001148.6(ANK2):c.9424A>C (p.Thr3142Pro)
|
rs374350634
|
0.00023
|
NM_001267550.2(TTN):c.59344+3G>A
|
rs142095604
|
0.00023
|
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His)
|
rs199781261
|
0.00023
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His)
|
rs377388499
|
0.00023
|
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)
|
rs200014315
|
0.00023
|
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=)
|
rs138441172
|
0.00023
|
NM_004006.3(DMD):c.1337A>G (p.His446Arg)
|
rs72468699
|
0.00023
|
NM_004006.3(DMD):c.884G>A (p.Arg295Gln)
|
rs377587957
|
0.00023
|
NM_004415.4(DSP):c.2794-4dup
|
rs397516924
|
0.00023
|
NM_015627.3(LDLRAP1):c.344+4C>T
|
rs371561646
|
0.00023
|
NM_020778.5(ALPK3):c.2674G>A (p.Gly892Arg)
|
rs145983200
|
0.00023
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His)
|
rs146179135
|
0.00022
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly)
|
rs76649554
|
0.00022
|
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)
|
rs149955375
|
0.00022
|
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val)
|
rs142336788
|
0.00022
|
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=)
|
rs183620684
|
0.00022
|
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu)
|
rs201682415
|
0.00022
|
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=)
|
rs273585633
|
0.00022
|
NM_001367624.2(ZNF469):c.760G>A (p.Glu254Lys)
|
rs755977911
|
0.00022
|
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)
|
rs374663067
|
0.00022
|
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg)
|
rs201154998
|
0.00022
|
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr)
|
rs183839621
|
0.00022
|
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)
|
rs151178361
|
0.00022
|
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys)
|
rs201193346
|
0.00022
|
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)
|
rs199936506
|
0.00022
|
NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn)
|
rs786205841
|
0.00022
|
NM_004006.3(DMD):c.3951G>A (p.Glu1317=)
|
rs199643655
|
0.00022
|
NM_006514.4(SCN10A):c.1163T>C (p.Leu388Pro)
|
rs199734710
|
0.00022
|
NM_006514.4(SCN10A):c.1370A>G (p.Glu457Gly)
|
rs766017851
|
0.00022
|
NM_014000.3(VCL):c.787A>T (p.Thr263Ser)
|
rs142233726
|
0.00022
|
NM_017636.4(TRPM4):c.1119C>A (p.Phe373Leu)
|
rs141531245
|
0.00022
|
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys)
|
rs201325904
|
0.00022
|
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=)
|
rs139915367
|
0.00022
|
NM_024301.5(FKRP):c.885C>T (p.Arg295=)
|
rs769005880
|
0.00022
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)
|
rs376494248
|
0.00021
|
NM_000144.5(FXN):c.179G>A (p.Arg60His)
|
rs141858334
|
0.00021
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)
|
rs397515985
|
0.00021
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
0.00021
|
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val)
|
rs199473192
|
0.00021
|
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile)
|
rs199473618
|
0.00021
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=)
|
rs148132118
|
0.00021
|
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg)
|
rs371934474
|
0.00021
|
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)
|
rs150721582
|
0.00021
|
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu)
|
rs201581947
|
0.00021
|
NM_001267550.2(TTN):c.62280T>C (p.Val20760=)
|
rs372065796
|
0.00021
|
NM_001267550.2(TTN):c.62424C>T (p.Asp20808=)
|
rs374472044
|
0.00021
|
NM_001267550.2(TTN):c.62567A>G (p.Tyr20856Cys)
|
rs373867080
|
0.00021
|
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)
|
rs145039979
|
0.00021
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu)
|
rs190967471
|
0.00021
|
NM_001277115.2(DNAH11):c.2419G>C (p.Asp807His)
|
rs369849556
|
0.00021
|
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe)
|
rs568197988
|
0.00021
|
NM_001367624.2(ZNF469):c.9850G>A (p.Gly3284Arg)
|
rs773064083
|
0.00021
|
NM_001369.3(DNAH5):c.39C>T (p.Ser13=)
|
rs370788337
|
0.00021
|
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)
|
rs201478438
|
0.00021
|
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser)
|
rs376051686
|
0.00021
|
NM_002485.5(NBN):c.786C>A (p.Phe262Leu)
|
rs372159380
|
0.00021
|
NM_003673.4(TCAP):c.458G>A (p.Arg153His)
|
rs149585781
|
0.00021
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
NM_006514.4(SCN10A):c.4552G>A (p.Val1518Ile)
|
rs202040659
|
0.00021
|
NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr)
|
rs140288103
|
0.00021
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
NM_016204.4(GDF2):c.1290G>A (p.Ter430=)
|
rs139568056
|
0.00021
|
NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys)
|
rs144208673
|
0.00021
|
NM_032578.4(MYPN):c.952G>A (p.Val318Ile)
|
rs112518450
|
0.00021
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
NM_177438.3(DICER1):c.4773C>T (p.Leu1591=)
|
rs138308365
|
0.00021
|
NM_000152.5(GAA):c.2253C>T (p.Leu751=)
|
rs140441758
|
0.00020
|
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln)
|
rs199472781
|
0.00020
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)
|
rs376736293
|
0.00020
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe)
|
rs397516733
|
0.00020
|
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)
|
rs749285793
|
0.00020
|
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile)
|
rs200430493
|
0.00020
|
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)
|
rs72648922
|
0.00020
|
NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys)
|
rs376870149
|
0.00020
|
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)
|
rs202149931
|
0.00020
|
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr)
|
rs72648219
|
0.00020
|
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys)
|
rs199663613
|
0.00020
|
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser)
|
rs775431837
|
0.00020
|
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)
|
rs199922877
|
0.00020
|
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr)
|
rs377360750
|
0.00020
|
NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn)
|
rs370035829
|
0.00020
|
NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu)
|
rs144860423
|
0.00020
|
NM_004006.3(DMD):c.7521C>T (p.Asn2507=)
|
rs112516305
|
0.00020
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
NM_004655.4(AXIN2):c.203G>A (p.Arg68Gln)
|
rs138056036
|
0.00020
|
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)
|
rs369588942
|
0.00020
|
NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile)
|
rs776917693
|
0.00020
|
NM_020778.5(ALPK3):c.407C>T (p.Thr136Ile)
|
rs56015306
|
0.00020
|
NM_144997.7(FLCN):c.246C>T (p.Cys82=)
|
rs150712346
|
0.00020
|
NM_144997.7(FLCN):c.396+4A>G
|
rs370353839
|
0.00020
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000245.4(MET):c.665C>T (p.Thr222Met)
|
rs200776610
|
0.00019
|
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)
|
rs373946195
|
0.00019
|
NM_000335.5(SCN5A):c.998+5G>A
|
rs187531872
|
0.00019
|
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val)
|
rs142702699
|
0.00019
|
NM_000384.3(APOB):c.4532C>T (p.Thr1511Ile)
|
rs146247063
|
0.00019
|
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser)
|
rs142422341
|
0.00019
|
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn)
|
rs145629242
|
0.00019
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=)
|
rs374857905
|
0.00019
|
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=)
|
rs139279260
|
0.00019
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00019
|
NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr)
|
rs141432759
|
0.00019
|
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met)
|
rs142534126
|
0.00019
|
NM_001148.6(ANK2):c.7265G>A (p.Ser2422Asn)
|
rs140341680
|
0.00019
|
NM_001148.6(ANK2):c.8463C>A (p.Asp2821Glu)
|
rs780668435
|
0.00019
|
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His)
|
rs374876608
|
0.00019
|
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=)
|
rs374878689
|
0.00019
|
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His)
|
rs370137295
|
0.00019
|
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=)
|
rs371447978
|
0.00019
|
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)
|
rs72647868
|
0.00019
|
NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile)
|
rs372778818
|
0.00019
|
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)
|
rs377682563
|
0.00019
|
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)
|
rs199646089
|
0.00019
|
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)
|
rs201837864
|
0.00019
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser)
|
rs377612718
|
0.00019
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)
|
rs141258018
|
0.00019
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
NM_001267550.2(TTN):c.98385T>G (p.Ser32795Arg)
|
rs373396567
|
0.00019
|
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr)
|
rs560306385
|
0.00019
|
NM_001277115.2(DNAH11):c.9966A>G (p.Gln3322=)
|
rs201050208
|
0.00019
|
NM_001365276.2(TNXB):c.9121A>G (p.Lys3041Glu)
|
rs376639281
|
0.00019
|
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)
|
rs200826539
|
0.00019
|
NM_001367624.2(ZNF469):c.5449C>G (p.Leu1817Val)
|
rs559099409
|
0.00019
|
NM_001367624.2(ZNF469):c.5675G>A (p.Arg1892Lys)
|
rs528085780
|
0.00019
|
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg)
|
rs766410344
|
0.00019
|
NM_001367624.2(ZNF469):c.9214G>A (p.Gly3072Ser)
|
rs557364171
|
0.00019
|
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr)
|
rs201028172
|
0.00019
|
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser)
|
rs192863498
|
0.00019
|
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr)
|
rs367656336
|
0.00019
|
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)
|
rs147628503
|
0.00019
|
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)
|
rs201327273
|
0.00019
|
NM_002907.4(RECQL):c.518T>A (p.Val173Asp)
|
rs144313838
|
0.00019
|
NM_004006.3(DMD):c.2166A>G (p.Lys722=)
|
rs147580966
|
0.00019
|
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val)
|
rs141887693
|
0.00019
|
NM_004006.3(DMD):c.4072-3T>C
|
rs751657094
|
0.00019
|
NM_004006.3(DMD):c.6471T>A (p.Thr2157=)
|
rs377080659
|
0.00019
|
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)
|
rs200786705
|
0.00019
|
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys)
|
rs201352584
|
0.00019
|
NM_006514.4(SCN10A):c.1118A>G (p.Tyr373Cys)
|
rs147835034
|
0.00019
|
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly)
|
rs139524110
|
0.00019
|
NM_014000.3(VCL):c.590C>T (p.Thr197Ile)
|
rs189242810
|
0.00019
|
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val)
|
rs150266349
|
0.00019
|
NM_017636.4(TRPM4):c.1082T>G (p.Leu361Arg)
|
rs148763371
|
0.00019
|
NM_020778.5(ALPK3):c.1691C>T (p.Ser564Leu)
|
rs200540710
|
0.00019
|
NM_020975.6(RET):c.1529C>T (p.Ala510Val)
|
rs201745826
|
0.00019
|
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)
|
rs374404615
|
0.00019
|
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg)
|
rs373512514
|
0.00019
|
NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys)
|
rs202152674
|
0.00019
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)
|
rs137977232
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000143.4(FH):c.883G>A (p.Ala295Thr)
|
rs145843819
|
0.00018
|
NM_000219.6(KCNE1):c.118G>A (p.Gly40Ser)
|
rs778439872
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)
|
rs199473333
|
0.00018
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile)
|
rs201392574
|
0.00018
|
NM_000719.7(CACNA1C):c.4140+4G>A
|
rs111442547
|
0.00018
|
NM_001103.4(ACTN2):c.2677G>A (p.Asp893Asn)
|
rs142646143
|
0.00018
|
NM_001110792.2(MECP2):c.429C>G (p.Ala143=)
|
rs61748385
|
0.00018
|
NM_001148.6(ANK2):c.2836C>T (p.Arg946Cys)
|
rs200524407
|
0.00018
|
NM_001148.6(ANK2):c.8116G>C (p.Glu2706Gln)
|
rs142652341
|
0.00018
|
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr)
|
rs138928206
|
0.00018
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)
|
rs775954427
|
0.00018
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
NM_001267550.2(TTN):c.55205T>G (p.Ile18402Ser)
|
rs776899398
|
0.00018
|
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)
|
rs377164046
|
0.00018
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
0.00018
|
NM_001267550.2(TTN):c.95961C>T (p.Ala31987=)
|
rs369405564
|
0.00018
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
NM_001277115.2(DNAH11):c.8145C>T (p.Asn2715=)
|
rs201592689
|
0.00018
|
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)
|
rs368271628
|
0.00018
|
NM_002769.5(PRSS1):c.453C>T (p.Gly151=)
|
rs147765409
|
0.00018
|
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu)
|
rs148135406
|
0.00018
|
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)
|
rs188516326
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val)
|
rs367990772
|
0.00018
|
NM_130468.4(CHST14):c.471G>A (p.Val157=)
|
rs200761477
|
0.00018
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_000152.5(GAA):c.1848C>T (p.Asp616=)
|
rs377175810
|
0.00017
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
NM_000335.5(SCN5A):c.80G>A (p.Arg27His)
|
rs199473045
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_000384.3(APOB):c.13181T>C (p.Val4394Ala)
|
rs12720843
|
0.00017
|
NM_000890.5(KCNJ5):c.1123C>T (p.Arg375Trp)
|
rs142454198
|
0.00017
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu)
|
rs35960628
|
0.00017
|
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)
|
rs201693280
|
0.00017
|
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile)
|
rs139402062
|
0.00017
|
NM_001267550.2(TTN):c.106349C>G (p.Thr35450Ser)
|
rs371022420
|
0.00017
|
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys)
|
rs148018042
|
0.00017
|
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)
|
rs376814602
|
0.00017
|
NM_001367624.2(ZNF469):c.7850G>A (p.Arg2617Gln)
|
rs200019229
|
0.00017
|
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)
|
rs200586877
|
0.00017
|
NM_001379610.1(SPINK1):c.87+26T>C
|
rs200296519
|
0.00017
|
NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala)
|
rs147964932
|
0.00017
|
NM_003098.3(SNTA1):c.430T>G (p.Ser144Ala)
|
rs142978180
|
0.00017
|
NM_003673.4(TCAP):c.270G>A (p.Pro90=)
|
rs372538567
|
0.00017
|
NM_004006.3(DMD):c.5076A>G (p.Thr1692=)
|
rs145181319
|
0.00017
|
NM_006514.4(SCN10A):c.5200G>A (p.Glu1734Lys)
|
rs200645452
|
0.00017
|
NM_015627.3(LDLRAP1):c.850G>A (p.Ala284Thr)
|
rs144622500
|
0.00017
|
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe)
|
rs138274490
|
0.00017
|
NM_024334.3(TMEM43):c.361A>G (p.Met121Val)
|
rs369878538
|
0.00017
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
NM_033337.3(CAV3):c.234G>A (p.Thr78=)
|
rs148846096
|
0.00017
|
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)
|
rs140804406
|
0.00017
|
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp)
|
rs138070947
|
0.00017
|
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
|
rs147204964
|
0.00017
|
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser)
|
rs151163793
|
0.00016
|
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu)
|
rs145027663
|
0.00016
|
NM_000214.3(JAG1):c.2979C>T (p.Ser993=)
|
rs542976402
|
0.00016
|
NM_000237.3(LPL):c.1325T>G (p.Val442Gly)
|
rs116403115
|
0.00016
|
NM_000240.4(MAOA):c.1248G>A (p.Met416Ile)
|
rs772161607
|
0.00016
|
NM_000245.4(MET):c.1412G>A (p.Gly471Glu)
|
rs373312981
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=)
|
rs372502369
|
0.00016
|
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)
|
rs45523233
|
0.00016
|
NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=)
|
rs41311121
|
0.00016
|
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys)
|
rs539080792
|
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_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala)
|
rs199694744
|
0.00016
|
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)
|
rs150389057
|
0.00016
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)
|
rs201131315
|
0.00016
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)
|
rs147480076
|
0.00016
|
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met)
|
rs373650093
|
0.00016
|
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=)
|
rs751559376
|
0.00016
|
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)
|
rs730880182
|
0.00016
|
NM_001148.6(ANK2):c.9682G>A (p.Val3228Met)
|
rs141013157
|
0.00016
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
NM_001267550.2(TTN):c.104590C>A (p.Pro34864Thr)
|
rs756640084
|
0.00016
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00016
|
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)
|
rs201888760
|
0.00016
|
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln)
|
rs201825412
|
0.00016
|
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His)
|
rs371538664
|
0.00016
|
NM_001267550.2(TTN):c.53881+5G>A
|
rs753527304
|
0.00016
|
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr)
|
rs200585270
|
0.00016
|
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00016
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00016
|
NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys)
|
rs191549948
|
0.00016
|
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln)
|
rs148684589
|
0.00016
|
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)
|
rs72646877
|
0.00016
|
NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=)
|
rs200717463
|
0.00016
|
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp)
|
rs187868672
|
0.00016
|
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His)
|
rs142129359
|
0.00016
|
NM_001267550.2(TTN):c.80417A>G (p.His26806Arg)
|
rs181766682
|
0.00016
|
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=)
|
rs373326137
|
0.00016
|
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00016
|
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)
|
rs202001776
|
0.00016
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr)
|
rs373727636
|
0.00016
|
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)
|
rs397517756
|
0.00016
|
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)
|
rs368154623
|
0.00016
|
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)
|
rs368423941
|
0.00016
|
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg)
|
rs200052398
|
0.00016
|
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=)
|
rs72658836
|
0.00016
|
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=)
|
rs202002028
|
0.00016
|
NM_001367624.2(ZNF469):c.4571T>G (p.Leu1524Arg)
|
rs111916311
|
0.00016
|
NM_001367624.2(ZNF469):c.8252C>T (p.Ser2751Leu)
|
rs376638940
|
0.00016
|
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser)
|
rs368959723
|
0.00016
|
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=)
|
rs45596541
|
0.00016
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)
|
rs199826380
|
0.00016
|
NM_002439.5(MSH3):c.3174A>G (p.Gln1058=)
|
rs758314489
|
0.00016
|
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)
|
rs771742318
|
0.00016
|
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)
|
rs146403088
|
0.00016
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_004006.3(DMD):c.1761A>G (p.Thr587=)
|
rs370103963
|
0.00016
|
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)
|
rs201302282
|
0.00016
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)
|
rs201638005
|
0.00016
|
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)
|
rs553907248
|
0.00016
|
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)
|
rs141834182
|
0.00016
|
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)
|
rs200421954
|
0.00016
|
NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln)
|
rs200011880
|
0.00016
|
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys)
|
rs200334446
|
0.00016
|
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val)
|
rs140214637
|
0.00016
|
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr)
|
rs727504636
|
0.00016
|
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)
|
rs371408734
|
0.00016
|
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)
|
rs202094530
|
0.00016
|
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)
|
rs150994304
|
0.00016
|
NM_006514.4(SCN10A):c.365C>T (p.Thr122Met)
|
rs142884499
|
0.00016
|
NM_006514.4(SCN10A):c.4607C>G (p.Thr1536Arg)
|
rs778754301
|
0.00016
|
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=)
|
rs146942382
|
0.00016
|
NM_020297.4(ABCC9):c.4512+765C>T
|
rs142875103
|
0.00016
|
NM_022489.4(INF2):c.2053A>G (p.Ile685Val)
|
rs199526439
|
0.00016
|
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr)
|
rs201856473
|
0.00016
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00016
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_032578.4(MYPN):c.392G>T (p.Ser131Ile)
|
rs199853307
|
0.00016
|
NM_058216.3(RAD51C):c.744T>C (p.Phe248=)
|
rs150142859
|
0.00016
|
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)
|
rs200753280
|
0.00016
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu)
|
rs55773834
|
0.00015
|
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)
|
rs112371422
|
0.00015
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000238.4(KCNH2):c.355G>C (p.Asp119His)
|
rs376308069
|
0.00015
|
NM_000245.4(MET):c.1771C>T (p.Arg591Trp)
|
rs45602940
|
0.00015
|
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met)
|
rs377163678
|
0.00015
|
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=)
|
rs368706722
|
0.00015
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro)
|
rs369438564
|
0.00015
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_001079802.2(FKTN):c.333T>C (p.Thr111=)
|
rs141729611
|
0.00015
|
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)
|
rs370735674
|
0.00015
|
NM_001148.6(ANK2):c.5651C>T (p.Ser1884Leu)
|
rs150737736
|
0.00015
|
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)
|
rs181679744
|
0.00015
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
NM_001267550.2(TTN):c.48624T>C (p.Pro16208=)
|
rs72677240
|
0.00015
|
NM_001267550.2(TTN):c.68513C>T (p.Ala22838Val)
|
rs372075439
|
0.00015
|
NM_001267550.2(TTN):c.80527T>C (p.Leu26843=)
|
rs142004835
|
0.00015
|
NM_001267550.2(TTN):c.88645_88647del (p.Glu29549del)
|
rs778364983
|
0.00015
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val)
|
rs397517772
|
0.00015
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu)
|
rs552311966
|
0.00015
|
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
|
rs199604280
|
0.00015
|
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)
|
rs771703569
|
0.00015
|
NM_001379200.1(TBX1):c.913C>A (p.Arg305=)
|
rs751339103
|
0.00015
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)
|
rs267606904
|
0.00015
|
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)
|
rs201433617
|
0.00015
|
NM_006073.4(TRDN):c.239C>T (p.Ser80Phe)
|
rs181287533
|
0.00015
|
NM_006514.4(SCN10A):c.4849G>T (p.Val1617Phe)
|
rs375940680
|
0.00015
|
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)
|
rs779715512
|
0.00015
|
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)
|
rs149418765
|
0.00015
|
NM_022437.3(ABCG8):c.342G>A (p.Leu114=)
|
rs150970273
|
0.00015
|
NM_024301.5(FKRP):c.1405C>T (p.Leu469=)
|
rs143129484
|
0.00015
|
NM_024301.5(FKRP):c.336C>T (p.Ala112=)
|
rs1054339656
|
0.00015
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
NM_000117.3(EMD):c.537G>A (p.Leu179=)
|
rs368661339
|
0.00014
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000152.5(GAA):c.1593C>T (p.Asp531=)
|
rs138732016
|
0.00014
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)
|
rs77442996
|
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_000268.4(NF2):c.107A>G (p.Asn36Ser)
|
rs372279458
|
0.00014
|
NM_000465.4(BARD1):c.279A>G (p.Gln93=)
|
rs370000575
|
0.00014
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met)
|
rs727503835
|
0.00014
|
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)
|
rs200070226
|
0.00014
|
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)
|
rs727505310
|
0.00014
|
NM_001148.6(ANK2):c.2110C>G (p.Gln704Glu)
|
rs139197937
|
0.00014
|
NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr)
|
rs150684838
|
0.00014
|
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)
|
rs149315236
|
0.00014
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00014
|
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)
|
rs200902055
|
0.00014
|
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)
|
rs374497665
|
0.00014
|
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=)
|
rs372382546
|
0.00014
|
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)
|
rs184815126
|
0.00014
|
NM_001267550.2(TTN):c.50390G>A (p.Arg16797His)
|
rs200835354
|
0.00014
|
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His)
|
rs376080116
|
0.00014
|
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)
|
rs200968679
|
0.00014
|
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val)
|
rs397517627
|
0.00014
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00014
|
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr)
|
rs532844402
|
0.00014
|
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr)
|
rs200471370
|
0.00014
|
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)
|
rs145373396
|
0.00014
|
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys)
|
rs201688358
|
0.00014
|
NM_001267550.2(TTN):c.86025G>A (p.Pro28675=)
|
rs369528150
|
0.00014
|
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)
|
rs72648235
|
0.00014
|
NM_001267550.2(TTN):c.89946C>T (p.Val29982=)
|
rs373311459
|
0.00014
|
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=)
|
rs192167542
|
0.00014
|
NM_001267550.2(TTN):c.96904+4T>C
|
rs373514079
|
0.00014
|
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)
|
rs146199720
|
0.00014
|
NM_001267550.2(TTN):c.97436G>A (p.Arg32479His)
|
rs369845358
|
0.00014
|
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys)
|
rs377599569
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_001365276.2(TNXB):c.4679C>T (p.Thr1560Met)
|
rs535714494
|
0.00014
|
NM_001367624.2(ZNF469):c.4422G>A (p.Ala1474=)
|
rs368877287
|
0.00014
|
NM_001367624.2(ZNF469):c.6227G>A (p.Arg2076Gln)
|
rs554464152
|
0.00014
|
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys)
|
rs546141859
|
0.00014
|
NM_001367624.2(ZNF469):c.9620C>T (p.Ala3207Val)
|
rs563202944
|
0.00014
|
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)
|
rs144879072
|
0.00014
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg)
|
rs371516347
|
0.00014
|
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)
|
rs374124083
|
0.00014
|
NM_001943.5(DSG2):c.3353C>T (p.Ser1118Phe)
|
rs368703304
|
0.00014
|
NM_002474.3(MYH11):c.1017C>T (p.Ser339=)
|
rs112161189
|
0.00014
|
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=)
|
rs757501817
|
0.00014
|
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)
|
rs747315554
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala)
|
rs766925398
|
0.00014
|
NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys)
|
rs786205846
|
0.00014
|
NM_004006.3(DMD):c.1603-4C>A
|
rs377223643
|
0.00014
|
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)
|
rs760733415
|
0.00014
|
NM_004006.3(DMD):c.4605G>A (p.Thr1535=)
|
rs374871728
|
0.00014
|
NM_004006.3(DMD):c.7578G>A (p.Gln2526=)
|
rs142236825
|
0.00014
|
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val)
|
rs146977269
|
0.00014
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00014
|
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu)
|
rs200814534
|
0.00014
|
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr)
|
rs77447750
|
0.00014
|
NM_005751.5(AKAP9):c.5048C>T (p.Thr1683Met)
|
rs146305558
|
0.00014
|
NM_006231.4(POLE):c.6004+5G>T
|
rs372169366
|
0.00014
|
NM_006514.4(SCN10A):c.1315A>G (p.Thr439Ala)
|
rs146536985
|
0.00014
|
NM_006514.4(SCN10A):c.4581G>A (p.Met1527Ile)
|
rs369978695
|
0.00014
|
NM_017668.3(NDE1):c.990G>A (p.Arg330=)
|
rs143588920
|
0.00014
|
NM_017802.4(DNAAF5):c.697G>A (p.Ala233Thr)
|
rs149139347
|
0.00014
|
NM_018699.4(PRDM5):c.1114G>A (p.Glu372Lys)
|
rs369580755
|
0.00014
|
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys)
|
rs201610681
|
0.00014
|
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr)
|
rs146769635
|
0.00014
|
NM_130468.4(CHST14):c.765C>T (p.Gly255=)
|
rs148053059
|
0.00014
|
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr)
|
rs202218948
|
0.00014
|
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=)
|
rs143735377
|
0.00013
|
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys)
|
rs192491153
|
0.00013
|
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)
|
rs369383272
|
0.00013
|
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)
|
rs144751329
|
0.00013
|
NM_000088.4(COL1A1):c.627C>T (p.Gly209=)
|
rs201136122
|
0.00013
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
NM_000218.3(KCNQ1):c.759C>T (p.Ser253=)
|
rs752457145
|
0.00013
|
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)
|
rs199472728
|
0.00013
|
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile)
|
rs397516016
|
0.00013
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)
|
rs138780791
|
0.00013
|
NM_001005242.3(PKP2):c.1379-2018G>A
|
rs369518480
|
0.00013
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)
|
rs727504590
|
0.00013
|
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile)
|
rs199911951
|
0.00013
|
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn)
|
rs199549660
|
0.00013
|
NM_001148.6(ANK2):c.7436A>G (p.Lys2479Arg)
|
rs201619005
|
0.00013
|
NM_001148.6(ANK2):c.8239C>T (p.Arg2747Cys)
|
rs376628082
|
0.00013
|
NM_001148.6(ANK2):c.8892C>G (p.Ile2964Met)
|
rs62313245
|
0.00013
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00013
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)
|
rs374405802
|
0.00013
|
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)
|
rs72650035
|
0.00013
|
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His)
|
rs397517573
|
0.00013
|
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys)
|
rs397517600
|
0.00013
|
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)
|
rs199837769
|
0.00013
|
NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln)
|
rs141142920
|
0.00013
|
NM_001267550.2(TTN):c.68640G>A (p.Lys22880=)
|
rs370292933
|
0.00013
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys)
|
rs149660690
|
0.00013
|
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser)
|
rs199929362
|
0.00013
|
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu)
|
rs146636599
|
0.00013
|
NM_001267550.2(TTN):c.86355T>C (p.Asn28785=)
|
rs745857020
|
0.00013
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
NM_001267550.2(TTN):c.91426G>A (p.Val30476Ile)
|
rs377531244
|
0.00013
|
NM_001267550.2(TTN):c.95082C>T (p.Ser31694=)
|
rs776679937
|
0.00013
|
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=)
|
rs373509153
|
0.00013
|
NM_001365276.2(TNXB):c.4894A>G (p.Ile1632Val)
|
rs766602645
|
0.00013
|
NM_001365276.2(TNXB):c.7694C>T (p.Ala2565Val)
|
rs199719197
|
0.00013
|
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly)
|
rs377386505
|
0.00013
|
NM_001367624.2(ZNF469):c.10889G>A (p.Arg3630His)
|
rs758123475
|
0.00013
|
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met)
|
rs151127652
|
0.00013
|
NM_001367624.2(ZNF469):c.4595G>A (p.Arg1532Gln)
|
rs911235059
|
0.00013
|
NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys)
|
rs578166707
|
0.00013
|
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp)
|
rs200992340
|
0.00013
|
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu)
|
rs376989302
|
0.00013
|
NM_001927.4(DES):c.1257C>T (p.Pro419=)
|
rs143154982
|
0.00013
|
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr)
|
rs375358300
|
0.00013
|
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)
|
rs368512832
|
0.00013
|
NM_002230.4(JUP):c.545C>T (p.Ser182Leu)
|
rs145592971
|
0.00013
|
NM_002439.5(MSH3):c.1194C>T (p.Gly398=)
|
rs141118996
|
0.00013
|
NM_002439.5(MSH3):c.562C>T (p.Arg188Cys)
|
rs147289289
|
0.00013
|
NM_002471.4(MYH6):c.1252G>A (p.Val418Met)
|
rs147606900
|
0.00013
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
NM_002907.4(RECQL):c.86C>T (p.Thr29Met)
|
rs145067169
|
0.00013
|
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln)
|
rs141151675
|
0.00013
|
NM_004006.3(DMD):c.7658G>A (p.Arg2553Gln)
|
rs764127932
|
0.00013
|
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys)
|
rs373832446
|
0.00013
|
NM_004006.3(DMD):c.8706G>A (p.Arg2902=)
|
rs899851642
|
0.00013
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly)
|
rs61762969
|
0.00013
|
NM_005477.3(HCN4):c.2025C>T (p.Ala675=)
|
rs149033101
|
0.00013
|
NM_005633.4(SOS1):c.1668A>C (p.Val556=)
|
rs376314461
|
0.00013
|
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu)
|
rs141594736
|
0.00013
|
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr)
|
rs148267537
|
0.00013
|
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys)
|
rs9398723
|
0.00013
|
NM_006514.4(SCN10A):c.2816C>T (p.Pro939Leu)
|
rs202174472
|
0.00013
|
NM_006514.4(SCN10A):c.3417G>C (p.Trp1139Cys)
|
rs143744796
|
0.00013
|
NM_006514.4(SCN10A):c.4709C>T (p.Thr1570Met)
|
rs772484960
|
0.00013
|
NM_007078.3(LDB3):c.342C>T (p.Asn114=)
|
rs151166414
|
0.00013
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met)
|
rs150261456
|
0.00013
|
NM_020778.5(ALPK3):c.4381G>C (p.Val1461Leu)
|
rs143835594
|
0.00013
|
NM_024422.6(DSC2):c.2298G>C (p.Gln766His)
|
rs139558481
|
0.00013
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
NM_170707.4(LMNA):c.1051A>C (p.Arg351=)
|
rs771623461
|
0.00013
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys)
|
rs201395805
|
0.00013
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00012
|
NM_000152.5(GAA):c.663C>T (p.Ile221=)
|
rs142878958
|
0.00012
|
NM_000245.4(MET):c.3798+5T>C
|
rs368150874
|
0.00012
|
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro)
|
rs148310342
|
0.00012
|
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)
|
rs147025073
|
0.00012
|
NM_000384.3(APOB):c.11542G>A (p.Ala3848Thr)
|
rs61743512
|
0.00012
|
NM_000384.3(APOB):c.11569G>A (p.Val3857Met)
|
rs145655926
|
0.00012
|
NM_000384.3(APOB):c.288G>T (p.Gln96His)
|
rs186544754
|
0.00012
|
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)
|
rs148878126
|
0.00012
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
NM_001005242.3(PKP2):c.1540G>A (p.Val514Ile)
|
rs376102257
|
0.00012
|
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe)
|
rs185204667
|
0.00012
|
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly)
|
rs200631005
|
0.00012
|
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu)
|
rs200177134
|
0.00012
|
NM_001148.6(ANK2):c.9853A>C (p.Ile3285Leu)
|
rs144603824
|
0.00012
|
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)
|
rs376894729
|
0.00012
|
NM_001267550.2(TTN):c.204C>T (p.Pro68=)
|
rs201089861
|
0.00012
|
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro)
|
rs115303497
|
0.00012
|
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn)
|
rs370342831
|
0.00012
|
NM_001267550.2(TTN):c.51887G>A (p.Arg17296His)
|
rs200456782
|
0.00012
|
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)
|
rs367700246
|
0.00012
|
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)
|
rs368021072
|
0.00012
|
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His)
|
rs201774108
|
0.00012
|
NM_001267550.2(TTN):c.56850G>A (p.Val18950=)
|
rs368068200
|
0.00012
|
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)
|
rs202206216
|
0.00012
|
NM_001267550.2(TTN):c.63775G>A (p.Val21259Ile)
|
rs371286595
|
0.00012
|
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr)
|
rs397517667
|
0.00012
|
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)
|
rs375676529
|
0.00012
|
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)
|
rs56245285
|
0.00012
|
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)
|
rs372543652
|
0.00012
|
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr)
|
rs397517720
|
0.00012
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His)
|
rs118079537
|
0.00012
|
NM_001267550.2(TTN):c.85275T>C (p.Thr28425=)
|
rs376484117
|
0.00012
|
NM_001267550.2(TTN):c.92402C>T (p.Ala30801Val)
|
rs372570504
|
0.00012
|
NM_001367624.2(ZNF469):c.10132G>C (p.Gly3378Arg)
|
rs192272765
|
0.00012
|
NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr)
|
rs766878740
|
0.00012
|
NM_001367624.2(ZNF469):c.5266G>A (p.Ala1756Thr)
|
rs371328036
|
0.00012
|
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)
|
rs745404679
|
0.00012
|
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val)
|
rs377282102
|
0.00012
|
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)
|
rs199649563
|
0.00012
|
NM_001458.5(FLNC):c.1568T>C (p.Val523Ala)
|
rs182845462
|
0.00012
|
NM_002439.5(MSH3):c.3181A>G (p.Arg1061Gly)
|
rs746782115
|
0.00012
|
NM_002471.4(MYH6):c.115G>A (p.Val39Met)
|
rs142850511
|
0.00012
|
NM_002769.5(PRSS1):c.390C>T (p.Thr130=)
|
rs561097415
|
0.00012
|
NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu)
|
rs138097741
|
0.00012
|
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met)
|
rs72466581
|
0.00012
|
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn)
|
rs143727462
|
0.00012
|
NM_004415.4(DSP):c.2037A>G (p.Ile679Met)
|
rs151049942
|
0.00012
|
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg)
|
rs576538858
|
0.00012
|
NM_005477.3(HCN4):c.2701G>A (p.Ala901Thr)
|
rs201742383
|
0.00012
|
NM_005477.3(HCN4):c.621C>G (p.Arg207=)
|
rs727503958
|
0.00012
|
NM_006912.6(RIT1):c.38G>A (p.Ser13Asn)
|
rs145034964
|
0.00012
|
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)
|
rs146434058
|
0.00012
|
NM_015627.3(LDLRAP1):c.622G>A (p.Ala208Thr)
|
rs146122441
|
0.00012
|
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)
|
rs373951977
|
0.00012
|
NM_018699.4(PRDM5):c.1605C>T (p.His535=)
|
rs150476884
|
0.00012
|
NM_018699.4(PRDM5):c.508C>T (p.Pro170Ser)
|
rs746068577
|
0.00012
|
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser)
|
rs767748953
|
0.00012
|
NM_024301.5(FKRP):c.954C>T (p.Cys318=)
|
rs755968761
|
0.00012
|
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp)
|
rs142354704
|
0.00012
|
NM_177438.3(DICER1):c.4802A>T (p.Lys1601Met)
|
rs181018393
|
0.00012
|
NM_000038.6(APC):c.3875C>T (p.Thr1292Met)
|
rs371113837
|
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.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr)
|
rs571152089
|
0.00011
|
NM_000059.4(BRCA2):c.341A>G (p.His114Arg)
|
rs80358586
|
0.00011
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)
|
rs150440246
|
0.00011
|
NM_000214.3(JAG1):c.1146C>T (p.Asn382=)
|
rs200133928
|
0.00011
|
NM_000214.3(JAG1):c.2286C>T (p.Asn762=)
|
rs144190443
|
0.00011
|
NM_000218.3(KCNQ1):c.1388G>C (p.Ser463Thr)
|
rs184636161
|
0.00011
|
NM_000245.4(MET):c.2378G>A (p.Arg793His)
|
rs199643166
|
0.00011
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
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.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_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
NM_000264.5(PTCH1):c.560G>A (p.Arg187His)
|
rs138034434
|
0.00011
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_000384.3(APOB):c.2204T>A (p.Val735Glu)
|
rs199872875
|
0.00011
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys)
|
rs372447456
|
0.00011
|
NM_000891.3(KCNJ2):c.168T>C (p.Val56=)
|
rs370111593
|
0.00011
|
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile)
|
rs368633311
|
0.00011
|
NM_001035.3(RYR2):c.14808+3A>G
|
rs377491955
|
0.00011
|
NM_001042492.3(NF1):c.3621A>G (p.Arg1207=)
|
rs141390152
|
0.00011
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00011
|
NM_001105206.3(LAMA4):c.1788C>A (p.Asp596Glu)
|
rs145986920
|
0.00011
|
NM_001105206.3(LAMA4):c.2719G>A (p.Val907Ile)
|
rs138030555
|
0.00011
|
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser)
|
rs139199018
|
0.00011
|
NM_001148.6(ANK2):c.8144C>T (p.Ser2715Phe)
|
rs147619875
|
0.00011
|
NM_001148.6(ANK2):c.9841C>G (p.Gln3281Glu)
|
rs372534074
|
0.00011
|
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)
|
rs544692790
|
0.00011
|
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)
|
rs372716177
|
0.00011
|
NM_001267550.2(TTN):c.12412A>G (p.Ile4138Val)
|
rs377290301
|
0.00011
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile)
|
rs370418677
|
0.00011
|
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)
|
rs376273101
|
0.00011
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser)
|
rs773035917
|
0.00011
|
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)
|
rs377571654
|
0.00011
|
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser)
|
rs200732032
|
0.00011
|
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln)
|
rs201693851
|
0.00011
|
NM_001267550.2(TTN):c.66051G>A (p.Val22017=)
|
rs587780981
|
0.00011
|
NM_001267550.2(TTN):c.66844T>C (p.Tyr22282His)
|
rs745992545
|
0.00011
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00011
|
NM_001267550.2(TTN):c.71155A>G (p.Ile23719Val)
|
rs201818722
|
0.00011
|
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=)
|
rs201380749
|
0.00011
|
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=)
|
rs189790119
|
0.00011
|
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg)
|
rs72648234
|
0.00011
|
NM_001267550.2(TTN):c.90181G>A (p.Val30061Ile)
|
rs138958733
|
0.00011
|
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu)
|
rs370541682
|
0.00011
|
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=)
|
rs372611171
|
0.00011
|
NM_001267550.2(TTN):c.94593G>A (p.Ala31531=)
|
rs373301015
|
0.00011
|
NM_001267550.2(TTN):c.94980A>G (p.Glu31660=)
|
rs370769662
|
0.00011
|
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys)
|
rs186244950
|
0.00011
|
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)
|
rs374295768
|
0.00011
|
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)
|
rs373210484
|
0.00011
|
NM_001365276.2(TNXB):c.2730G>A (p.Ala910=)
|
rs564894886
|
0.00011
|
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu)
|
rs754458926
|
0.00011
|
NM_001367624.2(ZNF469):c.2812G>A (p.Ala938Thr)
|
rs760409743
|
0.00011
|
NM_001367624.2(ZNF469):c.9080G>A (p.Arg3027His)
|
rs566978194
|
0.00011
|
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys)
|
rs149609746
|
0.00011
|
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln)
|
rs142917664
|
0.00011
|
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)
|
rs369868954
|
0.00011
|
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val)
|
rs767979763
|
0.00011
|
NM_001972.4(ELANE):c.472C>G (p.Leu158Val)
|
rs535990034
|
0.00011
|
NM_002471.4(MYH6):c.1410C>T (p.Asp470=)
|
rs139886074
|
0.00011
|
NM_002485.5(NBN):c.505C>T (p.Arg169Cys)
|
rs182756889
|
0.00011
|
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val)
|
rs199593058
|
0.00011
|
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)
|
rs142454490
|
0.00011
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
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_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys)
|
rs141078292
|
0.00011
|
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys)
|
rs143132980
|
0.00011
|
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=)
|
rs749785521
|
0.00011
|
NM_005477.3(HCN4):c.584C>T (p.Ala195Val)
|
rs201375192
|
0.00011
|
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=)
|
rs143299210
|
0.00011
|
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser)
|
rs138564205
|
0.00011
|
NM_006514.4(SCN10A):c.599C>T (p.Ala200Val)
|
rs554062977
|
0.00011
|
NM_007078.3(LDB3):c.794G>A (p.Arg265His)
|
rs45458895
|
0.00011
|
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)
|
rs70953661
|
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_018699.4(PRDM5):c.544C>T (p.Leu182Phe)
|
rs199602365
|
0.00011
|
NM_020975.6(RET):c.1344C>G (p.Asn448Lys)
|
rs549907428
|
0.00011
|
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)
|
rs374461212
|
0.00011
|
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys)
|
rs370421723
|
0.00011
|
NM_022437.3(ABCG8):c.1647C>T (p.Ala549=)
|
rs369736263
|
0.00011
|
NM_022437.3(ABCG8):c.546C>T (p.Ala182=)
|
rs774395087
|
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_032578.4(MYPN):c.395C>T (p.Pro132Leu)
|
rs201203517
|
0.00011
|
NM_053025.4(MYLK):c.4620-4G>A
|
rs371533014
|
0.00011
|
NM_170707.4(LMNA):c.1314G>A (p.Gly438=)
|
rs774817302
|
0.00011
|
NM_177438.3(DICER1):c.4870G>C (p.Ala1624Pro)
|
rs372967646
|
0.00011
|
NM_181426.2(CCDC39):c.2558G>A (p.Arg853His)
|
rs147183244
|
0.00011
|
NM_000038.6(APC):c.388A>G (p.Ser130Gly)
|
rs150973053
|
0.00010
|
NM_000039.3(APOA1):c.454G>A (p.Glu152Lys)
|
rs574061789
|
0.00010
|
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)
|
rs587782239
|
0.00010
|
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)
|
rs189925962
|
0.00010
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
NM_000088.4(COL1A1):c.391C>A (p.Arg131=)
|
rs776611767
|
0.00010
|
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr)
|
rs776478974
|
0.00010
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn)
|
rs140479817
|
0.00010
|
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)
|
rs542838372
|
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_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
|
rs139506719
|
0.00010
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
NM_000384.3(APOB):c.8661T>C (p.Thr2887=)
|
rs144023029
|
0.00010
|
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met)
|
rs763738559
|
0.00010
|
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)
|
rs758166168
|
0.00010
|
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)
|
rs201944276
|
0.00010
|
NM_001148.6(ANK2):c.10627A>G (p.Ile3543Val)
|
rs753102215
|
0.00010
|
NM_001148.6(ANK2):c.10805G>A (p.Arg3602Gln)
|
rs374991526
|
0.00010
|
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)
|
rs773532854
|
0.00010
|
NM_001148.6(ANK2):c.7868C>G (p.Ser2623Cys)
|
rs116253689
|
0.00010
|
NM_001148.6(ANK2):c.9116A>G (p.Asp3039Gly)
|
rs140539843
|
0.00010
|
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys)
|
rs563430855
|
0.00010
|
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)
|
rs372521529
|
0.00010
|
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)
|
rs377337528
|
0.00010
|
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys)
|
rs727504586
|
0.00010
|
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu)
|
rs201565932
|
0.00010
|
NM_001267550.2(TTN):c.12957G>A (p.Ala4319=)
|
rs762330685
|
0.00010
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
NM_001267550.2(TTN):c.13479T>G (p.Pro4493=)
|
rs368698752
|
0.00010
|
NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln)
|
rs200792058
|
0.00010
|
NM_001267550.2(TTN):c.1815T>C (p.Thr605=)
|
rs757604614
|
0.00010
|
NM_001267550.2(TTN):c.25937G>A (p.Arg8646His)
|
rs144587343
|
0.00010
|
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)
|
rs200165636
|
0.00010
|
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)
|
rs144609506
|
0.00010
|
NM_001267550.2(TTN):c.43G>A (p.Val15Ile)
|
rs201857541
|
0.00010
|
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=)
|
rs372633280
|
0.00010
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00010
|
NM_001267550.2(TTN):c.66123A>G (p.Pro22041=)
|
rs727504190
|
0.00010
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00010
|
NM_001267550.2(TTN):c.77706C>T (p.Asp25902=)
|
rs375764395
|
0.00010
|
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly)
|
rs368023868
|
0.00010
|
NM_001267550.2(TTN):c.84946G>C (p.Glu28316Gln)
|
rs183238138
|
0.00010
|
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)
|
rs200854704
|
0.00010
|
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile)
|
rs727504672
|
0.00010
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
NM_001364171.2(ODAD1):c.1175C>T (p.Ser392Leu)
|
rs201978870
|
0.00010
|
NM_001367624.2(ZNF469):c.10462G>A (p.Glu3488Lys)
|
rs781244140
|
0.00010
|
NM_001367624.2(ZNF469):c.1627G>A (p.Gly543Ser)
|
rs281865145
|
0.00010
|
NM_001367624.2(ZNF469):c.6176C>T (p.Pro2059Leu)
|
rs955717531
|
0.00010
|
NM_001369.3(DNAH5):c.4689C>T (p.Gly1563=)
|
rs375658702
|
0.00010
|
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln)
|
rs372620412
|
0.00010
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)
|
rs371511963
|
0.00010
|
NM_001711.6(BGN):c.1063G>A (p.Val355Ile)
|
rs201567818
|
0.00010
|
NM_002230.4(JUP):c.608G>A (p.Arg203His)
|
rs200221163
|
0.00010
|
NM_002230.4(JUP):c.926A>G (p.Asn309Ser)
|
rs140606359
|
0.00010
|
NM_002439.5(MSH3):c.3000T>G (p.Asp1000Glu)
|
rs139205893
|
0.00010
|
NM_002439.5(MSH3):c.316C>G (p.Gln106Glu)
|
rs149350323
|
0.00010
|
NM_002471.4(MYH6):c.3343-3C>A
|
rs565446762
|
0.00010
|
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln)
|
rs746211825
|
0.00010
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
NM_002880.4(RAF1):c.935T>C (p.Val312Ala)
|
rs370243307
|
0.00010
|
NM_003280.3(TNNC1):c.210C>T (p.Gly70=)
|
rs141505676
|
0.00010
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
NM_004006.3(DMD):c.606C>T (p.Ile202=)
|
rs138335295
|
0.00010
|
NM_004304.5(ALK):c.3692G>A (p.Arg1231Gln)
|
rs200110351
|
0.00010
|
NM_004304.5(ALK):c.4028C>T (p.Thr1343Ile)
|
rs753763148
|
0.00010
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
NM_005477.3(HCN4):c.3195C>A (p.Val1065=)
|
rs4493011
|
0.00010
|
NM_005633.4(SOS1):c.553A>G (p.Ile185Val)
|
rs143962515
|
0.00010
|
NM_006514.4(SCN10A):c.1661T>C (p.Leu554Pro)
|
rs138404783
|
0.00010
|
NM_006514.4(SCN10A):c.2554G>A (p.Glu852Lys)
|
rs375274122
|
0.00010
|
NM_006514.4(SCN10A):c.4396C>T (p.Gln1466Ter)
|
rs199931920
|
0.00010
|
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly)
|
rs763476625
|
0.00010
|
NM_022436.3(ABCG5):c.300C>G (p.Ser100=)
|
rs1212418813
|
0.00010
|
NM_022489.4(INF2):c.2489G>T (p.Gly830Val)
|
rs377340315
|
0.00010
|
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)
|
rs151010429
|
0.00010
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
NM_053025.4(MYLK):c.1133G>A (p.Arg378His)
|
rs56378658
|
0.00010
|
NM_170784.3(MKKS):c.926G>A (p.Arg309His)
|
rs199939179
|
0.00010
|
NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu)
|
rs140348243
|
0.00010
|
NM_000038.6(APC):c.6525A>G (p.Thr2175=)
|
rs200151646
|
0.00009
|
NM_000038.6(APC):c.95A>G (p.Asn32Ser)
|
rs539108537
|
0.00009
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
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_000057.4(BLM):c.2293G>A (p.Val765Ile)
|
rs191789336
|
0.00009
|
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)
|
rs374691587
|
0.00009
|
NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys)
|
rs431825347
|
0.00009
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)
|
rs72654799
|
0.00009
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
NM_000169.3(GLA):c.865A>G (p.Ile289Val)
|
rs140329381
|
0.00009
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
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_000214.3(JAG1):c.1335G>A (p.Gln445=)
|
rs759545669
|
0.00009
|
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)
|
rs200945282
|
0.00009
|
NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg)
|
rs151031345
|
0.00009
|
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)
|
rs375853155
|
0.00009
|
NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly)
|
rs148192104
|
0.00009
|
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val)
|
rs121913644
|
0.00009
|
NM_000257.4(MYH7):c.5559+5G>A
|
rs371177871
|
0.00009
|
NM_000321.3(RB1):c.1862G>A (p.Arg621His)
|
rs373601944
|
0.00009
|
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
|
rs146848219
|
0.00009
|
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
|
rs199473599
|
0.00009
|
NM_000335.5(SCN5A):c.4325A>G (p.Asn1442Ser)
|
rs1473144775
|
0.00009
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
NM_000371.4(TTR):c.354C>T (p.Asn118=)
|
rs11541797
|
0.00009
|
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu)
|
rs371940681
|
0.00009
|
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)
|
rs192057022
|
0.00009
|
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu)
|
rs587782333
|
0.00009
|
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)
|
rs149262370
|
0.00009
|
NM_000527.5(LDLR):c.1586+15C>T
|
rs371716068
|
0.00009
|
NM_000535.7(PMS2):c.993C>T (p.Cys331=)
|
rs186577215
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=)
|
rs377643814
|
0.00009
|
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=)
|
rs201345843
|
0.00009
|
NM_000719.7(CACNA1C):c.459C>T (p.Asn153=)
|
rs367638447
|
0.00009
|
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=)
|
rs563090568
|
0.00009
|
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly)
|
rs549476254
|
0.00009
|
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=)
|
rs369079645
|
0.00009
|
NM_001008212.2(OPTN):c.1401+4A>G
|
rs371470839
|
0.00009
|
NM_001042492.3(NF1):c.4836-3T>C
|
rs372460369
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)
|
rs141077224
|
0.00009
|
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln)
|
rs140156029
|
0.00009
|
NM_001077653.2(TBX20):c.1331C>T (p.Thr444Met)
|
rs201217462
|
0.00009
|
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr)
|
rs148972050
|
0.00009
|
NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu)
|
rs186264035
|
0.00009
|
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser)
|
rs29372
|
0.00009
|
NM_001148.6(ANK2):c.7168A>C (p.Lys2390Gln)
|
rs151218210
|
0.00009
|
NM_001148.6(ANK2):c.877G>A (p.Asp293Asn)
|
rs752213208
|
0.00009
|
NM_001267550.2(TTN):c.13340C>T (p.Ser4447Leu)
|
rs777547090
|
0.00009
|
NM_001267550.2(TTN):c.13458C>T (p.Asp4486=)
|
rs748885610
|
0.00009
|
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)
|
rs183328495
|
0.00009
|
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=)
|
rs370208081
|
0.00009
|
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr)
|
rs143030869
|
0.00009
|
NM_001267550.2(TTN):c.16057C>A (p.Arg5353=)
|
rs267599069
|
0.00009
|
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=)
|
rs200984007
|
0.00009
|
NM_001267550.2(TTN):c.186C>T (p.Arg62=)
|
rs528853682
|
0.00009
|
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala)
|
rs564353179
|
0.00009
|
NM_001267550.2(TTN):c.41019G>A (p.Pro13673=)
|
rs762470432
|
0.00009
|
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)
|
rs375474669
|
0.00009
|
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)
|
rs369800903
|
0.00009
|
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His)
|
rs368988689
|
0.00009
|
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=)
|
rs370450339
|
0.00009
|
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)
|
rs200100660
|
0.00009
|
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp)
|
rs201623791
|
0.00009
|
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)
|
rs200455644
|
0.00009
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=)
|
rs374858668
|
0.00009
|
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr)
|
rs759110420
|
0.00009
|
NM_001267550.2(TTN):c.7597A>G (p.Ile2533Val)
|
rs372407708
|
0.00009
|
NM_001267550.2(TTN):c.82488C>T (p.Asp27496=)
|
rs373909196
|
0.00009
|
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val)
|
rs373738818
|
0.00009
|
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)
|
rs397517746
|
0.00009
|
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr)
|
rs369342933
|
0.00009
|
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser)
|
rs374887049
|
0.00009
|
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=)
|
rs771635198
|
0.00009
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val)
|
rs141837529
|
0.00009
|
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn)
|
rs199600077
|
0.00009
|
NM_001367624.2(ZNF469):c.80C>T (p.Pro27Leu)
|
rs1009769670
|
0.00009
|
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=)
|
rs371157628
|
0.00009
|
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met)
|
rs375838474
|
0.00009
|
NM_001458.5(FLNC):c.1605C>T (p.Cys535=)
|
rs199976790
|
0.00009
|
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys)
|
rs141616435
|
0.00009
|
NM_001927.4(DES):c.642C>T (p.Asp214=)
|
rs370239228
|
0.00009
|
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)
|
rs727504770
|
0.00009
|
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr)
|
rs139559495
|
0.00009
|
NM_002230.4(JUP):c.578T>C (p.Met193Thr)
|
rs139496777
|
0.00009
|
NM_002230.4(JUP):c.892G>A (p.Gly298Ser)
|
rs199597864
|
0.00009
|
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
|
rs144421849
|
0.00009
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
NM_002528.7(NTHL1):c.896C>T (p.Pro299Leu)
|
rs367629024
|
0.00009
|
NM_002691.4(POLD1):c.2388+5G>A
|
rs750085275
|
0.00009
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser)
|
rs757394130
|
0.00009
|
NM_004006.3(DMD):c.9888C>T (p.Pro3296=)
|
rs146543659
|
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.1996A>C (p.Asn666His)
|
rs150427791
|
0.00009
|
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys)
|
rs144392839
|
0.00009
|
NM_004415.4(DSP):c.667G>A (p.Gly223Ser)
|
rs200806163
|
0.00009
|
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys)
|
rs772759631
|
0.00009
|
NM_005188.4(CBL):c.1566T>C (p.Ala522=)
|
rs371065029
|
0.00009
|
NM_005477.3(HCN4):c.1815G>A (p.Thr605=)
|
rs367753936
|
0.00009
|
NM_005633.4(SOS1):c.7G>T (p.Ala3Ser)
|
rs533757634
|
0.00009
|
NM_005751.5(AKAP9):c.2930A>G (p.Asn977Ser)
|
rs369206894
|
0.00009
|
NM_005751.5(AKAP9):c.6905C>T (p.Thr2302Met)
|
rs368444006
|
0.00009
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
NM_006440.5(TXNRD2):c.135C>T (p.Val45=)
|
rs752213778
|
0.00009
|
NM_006514.4(SCN10A):c.1417G>C (p.Asp473His)
|
rs143920053
|
0.00009
|
NM_006514.4(SCN10A):c.3445G>A (p.Val1149Met)
|
rs560631745
|
0.00009
|
NM_006514.4(SCN10A):c.4139G>A (p.Arg1380Gln)
|
rs149155352
|
0.00009
|
NM_006514.4(SCN10A):c.5540G>A (p.Arg1847Gln)
|
rs148537653
|
0.00009
|
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)
|
rs563231684
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met)
|
rs201754555
|
0.00009
|
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)
|
rs376450705
|
0.00009
|
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile)
|
rs746632559
|
0.00009
|
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp)
|
rs56191073
|
0.00009
|
NM_020975.6(RET):c.2261C>T (p.Thr754Met)
|
rs181856591
|
0.00009
|
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)
|
rs373594744
|
0.00009
|
NM_020975.6(RET):c.961G>A (p.Gly321Arg)
|
rs377767388
|
0.00009
|
NM_022437.3(ABCG8):c.870C>T (p.Thr290=)
|
rs117221284
|
0.00009
|
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)
|
rs144811578
|
0.00009
|
NM_024422.6(DSC2):c.2251-5T>G
|
rs374262463
|
0.00009
|
NM_024422.6(DSC2):c.23G>T (p.Gly8Val)
|
rs794728063
|
0.00009
|
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser)
|
rs139979318
|
0.00009
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu)
|
rs201245117
|
0.00009
|
NM_053025.4(MYLK):c.2589G>A (p.Glu863=)
|
rs536506601
|
0.00009
|
NM_144573.4(NEXN):c.856C>T (p.Arg286Trp)
|
rs199917913
|
0.00009
|
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?)
|
rs45610936
|
0.00009
|
NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser)
|
rs149868494
|
0.00009
|
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)
|
rs367905430
|
0.00008
|
NM_000038.6(APC):c.721G>A (p.Glu241Lys)
|
rs777603154
|
0.00008
|
NM_000038.6(APC):c.7471A>G (p.Met2491Val)
|
rs375674083
|
0.00008
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
0.00008
|
NM_000059.4(BRCA2):c.9872C>G (p.Ser3291Cys)
|
rs200210279
|
0.00008
|
NM_000075.4(CDK4):c.886C>T (p.His296Tyr)
|
rs2227954
|
0.00008
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
NM_000235.4(LIPA):c.483T>C (p.Asn161=)
|
rs369755163
|
0.00008
|
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)
|
rs374733251
|
0.00008
|
NM_000249.4(MLH1):c.1558+5G>A
|
rs199935667
|
0.00008
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)
|
rs45560242
|
0.00008
|
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr)
|
rs150069331
|
0.00008
|
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys)
|
rs375998275
|
0.00008
|
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu)
|
rs199473638
|
0.00008
|
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser)
|
rs537585211
|
0.00008
|
NM_000384.3(APOB):c.11966G>A (p.Arg3989His)
|
rs148197354
|
0.00008
|
NM_000384.3(APOB):c.13175G>A (p.Ser4392Asn)
|
rs777718986
|
0.00008
|
NM_000455.5(STK11):c.920+5G>A
|
rs587780013
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000535.7(PMS2):c.735G>T (p.Leu245=)
|
rs373366661
|
0.00008
|
NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met)
|
rs776738338
|
0.00008
|
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=)
|
rs371831239
|
0.00008
|
NM_001005242.3(PKP2):c.918C>T (p.Pro306=)
|
rs368656084
|
0.00008
|
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)
|
rs372601642
|
0.00008
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
NM_001105206.3(LAMA4):c.4405G>A (p.Ala1469Thr)
|
rs727504595
|
0.00008
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr)
|
rs373000965
|
0.00008
|
NM_001267550.2(TTN):c.104640G>A (p.Glu34880=)
|
rs373134178
|
0.00008
|
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)
|
rs200782068
|
0.00008
|
NM_001267550.2(TTN):c.2760C>T (p.His920=)
|
rs138788406
|
0.00008
|
NM_001267550.2(TTN):c.29960T>A (p.Ile9987Asn)
|
rs376644553
|
0.00008
|
NM_001267550.2(TTN):c.3713C>A (p.Thr1238Asn)
|
rs147020824
|
0.00008
|
NM_001267550.2(TTN):c.3813T>C (p.Leu1271=)
|
rs773274762
|
0.00008
|
NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly)
|
rs181902304
|
0.00008
|
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=)
|
rs202141158
|
0.00008
|
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=)
|
rs200410212
|
0.00008
|
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg)
|
rs772677752
|
0.00008
|
NM_001267550.2(TTN):c.60976G>A (p.Ala20326Thr)
|
rs370995867
|
0.00008
|
NM_001267550.2(TTN):c.62723G>A (p.Arg20908Gln)
|
rs377203669
|
0.00008
|
NM_001267550.2(TTN):c.63137T>C (p.Ile21046Thr)
|
rs368868562
|
0.00008
|
NM_001267550.2(TTN):c.8184C>T (p.Val2728=)
|
rs753356474
|
0.00008
|
NM_001267550.2(TTN):c.99582G>A (p.Pro33194=)
|
rs777730098
|
0.00008
|
NM_001365536.1(SCN9A):c.213G>A (p.Val71=)
|
rs200240989
|
0.00008
|
NM_001367624.2(ZNF469):c.11164G>A (p.Ala3722Thr)
|
rs549874193
|
0.00008
|
NM_001367624.2(ZNF469):c.26C>T (p.Ala9Val)
|
rs569870332
|
0.00008
|
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu)
|
rs769853271
|
0.00008
|
NM_001367624.2(ZNF469):c.4226C>T (p.Pro1409Leu)
|
rs776065579
|
0.00008
|
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=)
|
rs199735129
|
0.00008
|
NM_001458.5(FLNC):c.2040C>T (p.Thr680=)
|
rs368121231
|
0.00008
|
NM_001458.5(FLNC):c.3740C>T (p.Ala1247Val)
|
rs775496136
|
0.00008
|
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)
|
rs377258966
|
0.00008
|
NM_002230.4(JUP):c.475G>T (p.Val159Leu)
|
rs782702266
|
0.00008
|
NM_002230.4(JUP):c.809T>A (p.Leu270Gln)
|
rs794729040
|
0.00008
|
NM_002439.5(MSH3):c.2229A>G (p.Gln743=)
|
rs142338243
|
0.00008
|
NM_002471.4(MYH6):c.1154C>T (p.Ser385Leu)
|
rs778319108
|
0.00008
|
NM_002471.4(MYH6):c.4651-4C>A
|
rs766134513
|
0.00008
|
NM_002528.7(NTHL1):c.652A>G (p.Met218Val)
|
rs367577861
|
0.00008
|
NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr)
|
rs148474733
|
0.00008
|
NM_002834.5(PTPN11):c.1740T>C (p.Tyr580=)
|
rs139188627
|
0.00008
|
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)
|
rs797045846
|
0.00008
|
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)
|
rs751829128
|
0.00008
|
NM_003977.4(AIP):c.724C>G (p.Leu242Val)
|
rs772782309
|
0.00008
|
NM_004006.3(DMD):c.8829G>A (p.Thr2943=)
|
rs150766816
|
0.00008
|
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)
|
rs387906874
|
0.00008
|
NM_004304.5(ALK):c.1550A>G (p.His517Arg)
|
rs367674546
|
0.00008
|
NM_004304.5(ALK):c.2275G>A (p.Val759Met)
|
rs199691702
|
0.00008
|
NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp)
|
rs55760835
|
0.00008
|
NM_004360.5(CDH1):c.164T>G (p.Val55Gly)
|
rs587778174
|
0.00008
|
NM_004444.5(EPHB4):c.935G>A (p.Arg312His)
|
rs765819602
|
0.00008
|
NM_006514.4(SCN10A):c.1601G>A (p.Arg534Gln)
|
rs147246725
|
0.00008
|
NM_006514.4(SCN10A):c.3712C>G (p.Leu1238Val)
|
rs960602539
|
0.00008
|
NM_006514.4(SCN10A):c.446G>A (p.Arg149Gln)
|
rs201706560
|
0.00008
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00008
|
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly)
|
rs772684048
|
0.00008
|
NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter)
|
rs148855956
|
0.00008
|
NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe)
|
rs187863107
|
0.00008
|
NM_018699.4(PRDM5):c.6G>T (p.Leu2=)
|
rs745891819
|
0.00008
|
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=)
|
rs369131115
|
0.00008
|
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=)
|
rs145754381
|
0.00008
|
NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu)
|
rs144411000
|
0.00008
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys)
|
rs180908546
|
0.00008
|
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys)
|
rs762556795
|
0.00008
|
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr)
|
rs146218439
|
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_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_000038.6(APC):c.1408+3A>G
|
rs534358523
|
0.00007
|
NM_000038.6(APC):c.6173G>A (p.Gly2058Asp)
|
rs150140908
|
0.00007
|
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg)
|
rs587779804
|
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.496+4T>C
|
rs587781375
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn)
|
rs80359088
|
0.00007
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
NM_000088.4(COL1A1):c.768C>T (p.Pro256=)
|
rs199891984
|
0.00007
|
NM_000117.3(EMD):c.12C>T (p.Tyr4=)
|
rs782011714
|
0.00007
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met)
|
rs144917638
|
0.00007
|
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)
|
rs199472864
|
0.00007
|
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)
|
rs63750809
|
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.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000335.5(SCN5A):c.3118G>A (p.Gly1040Arg)
|
rs199473186
|
0.00007
|
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala)
|
rs373888280
|
0.00007
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)
|
rs200142970
|
0.00007
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00007
|
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)
|
rs777095030
|
0.00007
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val)
|
rs750998195
|
0.00007
|
NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln)
|
rs190288386
|
0.00007
|
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn)
|
rs199473392
|
0.00007
|
NM_001037.5(SCN1B):c.449-3C>A
|
rs370937269
|
0.00007
|
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=)
|
rs201412035
|
0.00007
|
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)
|
rs373797219
|
0.00007
|
NM_001148.6(ANK2):c.11470C>G (p.Pro3824Ala)
|
rs747961230
|
0.00007
|
NM_001148.6(ANK2):c.3931G>A (p.Val1311Ile)
|
rs34065266
|
0.00007
|
NM_001148.6(ANK2):c.4016C>T (p.Pro1339Leu)
|
rs371357815
|
0.00007
|
NM_001148.6(ANK2):c.6505G>A (p.Val2169Ile)
|
rs149292242
|
0.00007
|
NM_001148.6(ANK2):c.7964C>T (p.Ser2655Leu)
|
rs373153154
|
0.00007
|
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile)
|
rs193922637
|
0.00007
|
NM_001267550.2(TTN):c.104298T>C (p.Ala34766=)
|
rs751788327
|
0.00007
|
NM_001267550.2(TTN):c.104943A>G (p.Glu34981=)
|
rs372312805
|
0.00007
|
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met)
|
rs397517795
|
0.00007
|
NM_001267550.2(TTN):c.11996A>G (p.Asn3999Ser)
|
rs199844346
|
0.00007
|
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)
|
rs727503652
|
0.00007
|
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His)
|
rs571348685
|
0.00007
|
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu)
|
rs145308734
|
0.00007
|
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr)
|
rs374419129
|
0.00007
|
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)
|
rs374228930
|
0.00007
|
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=)
|
rs373316165
|
0.00007
|
NM_001267550.2(TTN):c.53444T>C (p.Ile17815Thr)
|
rs374563054
|
0.00007
|
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=)
|
rs183047238
|
0.00007
|
NM_001267550.2(TTN):c.60025A>G (p.Ile20009Val)
|
rs371988490
|
0.00007
|
NM_001267550.2(TTN):c.69660A>G (p.Ala23220=)
|
rs371996901
|
0.00007
|
NM_001267550.2(TTN):c.72475A>G (p.Ile24159Val)
|
rs371764714
|
0.00007
|
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile)
|
rs199860952
|
0.00007
|
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met)
|
rs144398602
|
0.00007
|
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=)
|
rs370810609
|
0.00007
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
NM_001267550.2(TTN):c.79344G>T (p.Val26448=)
|
rs369875680
|
0.00007
|
NM_001267550.2(TTN):c.93725G>A (p.Arg31242His)
|
rs369899675
|
0.00007
|
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)
|
rs397517775
|
0.00007
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
NM_001277115.2(DNAH11):c.1170G>A (p.Glu390=)
|
rs776924184
|
0.00007
|
NM_001277115.2(DNAH11):c.13175C>T (p.Thr4392Met)
|
rs181603431
|
0.00007
|
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro)
|
rs370402083
|
0.00007
|
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His)
|
rs567038987
|
0.00007
|
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=)
|
rs373364340
|
0.00007
|
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=)
|
rs371108940
|
0.00007
|
NM_001711.6(BGN):c.1030T>C (p.Tyr344His)
|
rs201184042
|
0.00007
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu)
|
rs782622653
|
0.00007
|
NM_002230.4(JUP):c.356C>T (p.Pro119Leu)
|
rs376123010
|
0.00007
|
NM_002230.4(JUP):c.427G>A (p.Ala143Thr)
|
rs375788626
|
0.00007
|
NM_002230.4(JUP):c.526C>T (p.Arg176Trp)
|
rs368336007
|
0.00007
|
NM_002230.4(JUP):c.529C>T (p.Arg177Trp)
|
rs148484473
|
0.00007
|
NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr)
|
rs757840030
|
0.00007
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)
|
rs367760321
|
0.00007
|
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr)
|
rs201781110
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)
|
rs201141245
|
0.00007
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
NM_004006.3(DMD):c.1704+3G>A
|
rs773123973
|
0.00007
|
NM_004006.3(DMD):c.2988A>G (p.Leu996=)
|
rs148835707
|
0.00007
|
NM_004006.3(DMD):c.3450G>A (p.Glu1150=)
|
rs142967431
|
0.00007
|
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg)
|
rs750349613
|
0.00007
|
NM_004006.3(DMD):c.4721G>A (p.Arg1574His)
|
rs755206033
|
0.00007
|
NM_004006.3(DMD):c.863G>C (p.Arg288Thr)
|
rs767304770
|
0.00007
|
NM_004006.3(DMD):c.9093C>T (p.Val3031=)
|
rs72466563
|
0.00007
|
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser)
|
rs201718067
|
0.00007
|
NM_004281.4(BAG3):c.470C>T (p.Ala157Val)
|
rs541080567
|
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.854C>T (p.Thr285Ile)
|
rs587781634
|
0.00007
|
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg)
|
rs202232360
|
0.00007
|
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly)
|
rs778753999
|
0.00007
|
NM_005219.5(DIAPH1):c.1700C>T (p.Ala567Val)
|
rs752510907
|
0.00007
|
NM_005472.5(KCNE3):c.296G>A (p.Arg99His)
|
rs121908441
|
0.00007
|
NM_005477.3(HCN4):c.1243G>A (p.Val415Met)
|
rs201978086
|
0.00007
|
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)
|
rs776146535
|
0.00007
|
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)
|
rs730881034
|
0.00007
|
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu)
|
rs568626378
|
0.00007
|
NM_006514.4(SCN10A):c.3340T>C (p.Cys1114Arg)
|
rs771127702
|
0.00007
|
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser)
|
rs376422513
|
0.00007
|
NM_017636.4(TRPM4):c.2508C>T (p.Gly836=)
|
rs750999263
|
0.00007
|
NM_020778.5(ALPK3):c.698C>T (p.Pro233Leu)
|
rs150785783
|
0.00007
|
NM_020975.6(RET):c.1702G>A (p.Gly568Ser)
|
rs140464432
|
0.00007
|
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met)
|
rs377431904
|
0.00007
|
NM_022437.3(ABCG8):c.351G>A (p.Val117=)
|
rs41281459
|
0.00007
|
NM_022437.3(ABCG8):c.450C>T (p.His150=)
|
rs200013237
|
0.00007
|
NM_022489.4(INF2):c.1588G>A (p.Val530Met)
|
rs369984449
|
0.00007
|
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser)
|
rs148073122
|
0.00007
|
NM_024334.3(TMEM43):c.-4C>T
|
rs760598925
|
0.00007
|
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)
|
rs757145884
|
0.00007
|
NM_032578.4(MYPN):c.3103A>G (p.Met1035Val)
|
rs201975081
|
0.00007
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00007
|
NM_170707.4(LMNA):c.1530C>T (p.Thr510=)
|
rs138098342
|
0.00007
|
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)
|
rs374353973
|
0.00007
|
NM_000038.6(APC):c.1193A>G (p.Lys398Arg)
|
rs145912662
|
0.00006
|
NM_000038.6(APC):c.2110G>A (p.Val704Ile)
|
rs367804502
|
0.00006
|
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)
|
rs139618756
|
0.00006
|
NM_000038.6(APC):c.4249A>C (p.Ile1417Leu)
|
rs200166878
|
0.00006
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
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.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)
|
rs538230198
|
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.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
NM_000051.4(ATM):c.3588A>G (p.Lys1196=)
|
rs376524625
|
0.00006
|
NM_000051.4(ATM):c.3614G>A (p.Arg1205His)
|
rs769106895
|
0.00006
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00006
|
NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg)
|
rs730881382
|
0.00006
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
0.00006
|
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)
|
rs28897718
|
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_000088.4(COL1A1):c.2508C>T (p.Gly836=)
|
rs200620805
|
0.00006
|
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=)
|
rs148918486
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000146.4(FTL):c.155T>G (p.Phe52Cys)
|
rs543242420
|
0.00006
|
NM_000152.5(GAA):c.1143C>T (p.Thr381=)
|
rs111832449
|
0.00006
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000152.5(GAA):c.318C>T (p.Arg106=)
|
rs762542246
|
0.00006
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)
|
rs374486449
|
0.00006
|
NM_000214.3(JAG1):c.2877G>A (p.Ala959=)
|
rs142085300
|
0.00006
|
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=)
|
rs754593633
|
0.00006
|
NM_000218.3(KCNQ1):c.225T>C (p.Val75=)
|
rs367817352
|
0.00006
|
NM_000235.4(LIPA):c.618C>A (p.Val206=)
|
rs763651849
|
0.00006
|
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys)
|
rs201627778
|
0.00006
|
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu)
|
rs794728399
|
0.00006
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
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_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
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.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
NM_000256.3(MYBPC3):c.1309G>A (p.Val437Met)
|
rs730880535
|
0.00006
|
NM_000256.3(MYBPC3):c.94G>A (p.Glu32Lys)
|
rs730880575
|
0.00006
|
NM_000257.4(MYH7):c.2028T>C (p.Asn676=)
|
rs145564868
|
0.00006
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)
|
rs765895405
|
0.00006
|
NM_000257.4(MYH7):c.714C>T (p.Asn238=)
|
rs202141819
|
0.00006
|
NM_000264.5(PTCH1):c.1342C>A (p.Leu448Ile)
|
rs537871675
|
0.00006
|
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=)
|
rs200868190
|
0.00006
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
0.00006
|
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)
|
rs137854619
|
0.00006
|
NM_000335.5(SCN5A):c.5828G>A (p.Arg1943Gln)
|
rs767089602
|
0.00006
|
NM_000363.5(TNNI3):c.139T>C (p.Leu47=)
|
rs587780967
|
0.00006
|
NM_000368.5(TSC1):c.1209G>A (p.Ser403=)
|
rs141184479
|
0.00006
|
NM_000384.3(APOB):c.5863G>A (p.Val1955Met)
|
rs368970025
|
0.00006
|
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)
|
rs368547224
|
0.00006
|
NM_000458.4(HNF1B):c.36C>T (p.Leu12=)
|
rs749370057
|
0.00006
|
NM_000465.4(BARD1):c.119C>T (p.Ala40Val)
|
rs71579841
|
0.00006
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00006
|
NM_000492.4(CFTR):c.1679+18G>A
|
rs369294289
|
0.00006
|
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)
|
rs375845215
|
0.00006
|
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser)
|
rs368393738
|
0.00006
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
NM_000527.5(LDLR):c.1988-5C>G
|
rs375877599
|
0.00006
|
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val)
|
rs587780039
|
0.00006
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
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.1937G>T (p.Arg646Met)
|
rs372341850
|
0.00006
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys)
|
rs760489473
|
0.00006
|
NM_000548.5(TSC2):c.3358G>T (p.Val1120Leu)
|
rs1053311636
|
0.00006
|
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp)
|
rs777489742
|
0.00006
|
NM_000548.5(TSC2):c.5265C>T (p.Cys1755=)
|
rs141449031
|
0.00006
|
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met)
|
rs200140994
|
0.00006
|
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His)
|
rs137854288
|
0.00006
|
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)
|
rs1057519261
|
0.00006
|
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser)
|
rs749935207
|
0.00006
|
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val)
|
rs745997744
|
0.00006
|
NM_000784.4(CYP27A1):c.420C>T (p.His140=)
|
rs139415581
|
0.00006
|
NM_000890.5(KCNJ5):c.53C>T (p.Thr18Ile)
|
rs375669366
|
0.00006
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
NM_001037.5(SCN1B):c.415G>A (p.Val139Ile)
|
rs560827790
|
0.00006
|
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His)
|
rs546073780
|
0.00006
|
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr)
|
rs587781428
|
0.00006
|
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)
|
rs776639304
|
0.00006
|
NM_001081.4(CUBN):c.2120G>A (p.Arg707His)
|
rs763524933
|
0.00006
|
NM_001103.4(ACTN2):c.947T>C (p.Met316Thr)
|
rs370757762
|
0.00006
|
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=)
|
rs141988342
|
0.00006
|
NM_001105206.3(LAMA4):c.5444dup (p.Ser1816fs)
|
rs782327744
|
0.00006
|
NM_001105206.3(LAMA4):c.829G>A (p.Val277Ile)
|
rs146225813
|
0.00006
|
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser)
|
rs375200447
|
0.00006
|
NM_001148.6(ANK2):c.10016C>T (p.Ala3339Val)
|
rs150437645
|
0.00006
|
NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg)
|
rs150808807
|
0.00006
|
NM_001148.6(ANK2):c.4982A>G (p.Lys1661Arg)
|
rs761759361
|
0.00006
|
NM_001148.6(ANK2):c.5570T>A (p.Val1857Glu)
|
rs141212932
|
0.00006
|
NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn)
|
rs375139170
|
0.00006
|
NM_001148.6(ANK2):c.8176A>G (p.Thr2726Ala)
|
rs781344591
|
0.00006
|
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg)
|
rs534934297
|
0.00006
|
NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile)
|
rs200922244
|
0.00006
|
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His)
|
rs553479685
|
0.00006
|
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser)
|
rs779064623
|
0.00006
|
NM_001267550.2(TTN):c.102540T>C (p.Ser34180=)
|
rs368844570
|
0.00006
|
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)
|
rs727505020
|
0.00006
|
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=)
|
rs72629789
|
0.00006
|
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala)
|
rs368179478
|
0.00006
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
NM_001267550.2(TTN):c.2032A>G (p.Thr678Ala)
|
rs878854290
|
0.00006
|
NM_001267550.2(TTN):c.2573C>T (p.Ser858Leu)
|
rs772294126
|
0.00006
|
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala)
|
rs199910114
|
0.00006
|
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His)
|
rs768914789
|
0.00006
|
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)
|
rs72677247
|
0.00006
|
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu)
|
rs773271774
|
0.00006
|
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=)
|
rs771792080
|
0.00006
|
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser)
|
rs766074604
|
0.00006
|
NM_001267550.2(TTN):c.55809G>A (p.Pro18603=)
|
rs750472100
|
0.00006
|
NM_001267550.2(TTN):c.56943G>A (p.Ala18981=)
|
rs370998052
|
0.00006
|
NM_001267550.2(TTN):c.5740G>A (p.Ala1914Thr)
|
rs118161093
|
0.00006
|
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)
|
rs376465623
|
0.00006
|
NM_001267550.2(TTN):c.60654G>A (p.Thr20218=)
|
rs776141268
|
0.00006
|
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp)
|
rs727504479
|
0.00006
|
NM_001267550.2(TTN):c.62844T>G (p.Pro20948=)
|
rs770335539
|
0.00006
|
NM_001267550.2(TTN):c.63132T>C (p.Ile21044=)
|
rs561183059
|
0.00006
|
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn)
|
rs199505416
|
0.00006
|
NM_001267550.2(TTN):c.64734C>T (p.Ser21578=)
|
rs773855604
|
0.00006
|
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly)
|
rs375830234
|
0.00006
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
NM_001267550.2(TTN):c.68208T>A (p.Val22736=)
|
rs727503575
|
0.00006
|
NM_001267550.2(TTN):c.69251G>A (p.Arg23084Gln)
|
rs200191748
|
0.00006
|
NM_001267550.2(TTN):c.72992G>A (p.Arg24331His)
|
rs755174224
|
0.00006
|
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup)
|
rs772268958
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr)
|
rs199514898
|
0.00006
|
NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu)
|
rs200489046
|
0.00006
|
NM_001267550.2(TTN):c.81758A>G (p.Asn27253Ser)
|
rs529055709
|
0.00006
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln)
|
rs764437671
|
0.00006
|
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)
|
rs727504793
|
0.00006
|
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=)
|
rs746569192
|
0.00006
|
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val)
|
rs570464905
|
0.00006
|
NM_001267550.2(TTN):c.93254C>T (p.Pro31085Leu)
|
rs549841864
|
0.00006
|
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met)
|
rs760230943
|
0.00006
|
NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile)
|
rs184078016
|
0.00006
|
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro)
|
rs184922462
|
0.00006
|
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His)
|
rs55676195
|
0.00006
|
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=)
|
rs151195816
|
0.00006
|
NM_001365276.2(TNXB):c.147G>A (p.Gly49=)
|
rs370126465
|
0.00006
|
NM_001365276.2(TNXB):c.5780T>C (p.Ile1927Thr)
|
rs751320202
|
0.00006
|
NM_001365276.2(TNXB):c.6362G>A (p.Arg2121His)
|
rs778533848
|
0.00006
|
NM_001365276.2(TNXB):c.7513G>A (p.Glu2505Lys)
|
rs61731831
|
0.00006
|
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)
|
rs201875421
|
0.00006
|
NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser)
|
rs745385522
|
0.00006
|
NM_001367624.2(ZNF469):c.2345T>C (p.Val782Ala)
|
rs535983876
|
0.00006
|
NM_001367624.2(ZNF469):c.5206G>A (p.Gly1736Arg)
|
rs796410888
|
0.00006
|
NM_001367624.2(ZNF469):c.7090G>A (p.Ala2364Thr)
|
rs957383204
|
0.00006
|
NM_001367624.2(ZNF469):c.8590C>G (p.Pro2864Ala)
|
rs751901105
|
0.00006
|
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=)
|
rs150773884
|
0.00006
|
NM_001369.3(DNAH5):c.6747C>T (p.Phe2249=)
|
rs568499996
|
0.00006
|
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile)
|
rs770453841
|
0.00006
|
NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp)
|
rs186788522
|
0.00006
|
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu)
|
rs202002052
|
0.00006
|
NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys)
|
rs538779271
|
0.00006
|
NM_001943.5(DSG2):c.15G>C (p.Pro5=)
|
rs772663614
|
0.00006
|
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)
|
rs551034751
|
0.00006
|
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe)
|
rs199926617
|
0.00006
|
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)
|
rs531732438
|
0.00006
|
NM_002230.4(JUP):c.1912A>C (p.Asn638His)
|
rs782658008
|
0.00006
|
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del)
|
rs782439900
|
0.00006
|
NM_002230.4(JUP):c.530G>A (p.Arg177Gln)
|
rs371481933
|
0.00006
|
NM_002230.4(JUP):c.778G>A (p.Ala260Thr)
|
rs149623442
|
0.00006
|
NM_002471.4(MYH6):c.3787G>A (p.Val1263Met)
|
rs375819633
|
0.00006
|
NM_002471.4(MYH6):c.4991G>A (p.Arg1664His)
|
rs778287981
|
0.00006
|
NM_002474.3(MYH11):c.3235G>A (p.Ala1079Thr)
|
rs140479999
|
0.00006
|
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val)
|
rs369950711
|
0.00006
|
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile)
|
rs200865355
|
0.00006
|
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln)
|
rs143076166
|
0.00006
|
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg)
|
rs541223359
|
0.00006
|
NM_002834.5(PTPN11):c.132C>T (p.Ser44=)
|
rs397507502
|
0.00006
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
0.00006
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
NM_003098.3(SNTA1):c.589C>T (p.Arg197Trp)
|
rs530603992
|
0.00006
|
NM_003238.6(TGFB2):c.1140C>T (p.Cys380=)
|
rs201129153
|
0.00006
|
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)
|
rs185980145
|
0.00006
|
NM_003673.4(TCAP):c.132C>T (p.Asp44=)
|
rs397516861
|
0.00006
|
NM_004006.3(DMD):c.1066C>T (p.Leu356Phe)
|
rs199981454
|
0.00006
|
NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln)
|
rs139772014
|
0.00006
|
NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu)
|
rs144667422
|
0.00006
|
NM_004006.3(DMD):c.501G>T (p.Leu167=)
|
rs150239235
|
0.00006
|
NM_004006.3(DMD):c.7051T>C (p.Leu2351=)
|
rs367747168
|
0.00006
|
NM_004168.4(SDHA):c.1064+5G>A
|
rs200021115
|
0.00006
|
NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn)
|
rs140251789
|
0.00006
|
NM_004281.4(BAG3):c.400T>A (p.Ser134Thr)
|
rs375257731
|
0.00006
|
NM_004329.3(BMPR1A):c.118G>A (p.Asp40Asn)
|
rs587781556
|
0.00006
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)
|
rs587780119
|
0.00006
|
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln)
|
rs768455823
|
0.00006
|
NM_004655.4(AXIN2):c.1598C>T (p.Ala533Val)
|
rs147716924
|
0.00006
|
NM_004656.4(BAP1):c.1781G>C (p.Gly594Ala)
|
rs144172190
|
0.00006
|
NM_004990.4(MARS1):c.1540-3C>T
|
rs372013808
|
0.00006
|
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn)
|
rs139600659
|
0.00006
|
NM_005591.4(MRE11):c.1462C>T (p.Arg488Cys)
|
rs375261439
|
0.00006
|
NM_005633.4(SOS1):c.929G>A (p.Arg310His)
|
rs143481916
|
0.00006
|
NM_005732.4(RAD50):c.2173C>T (p.Arg725Trp)
|
rs369560280
|
0.00006
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter)
|
rs202059967
|
0.00006
|
NM_006514.4(SCN10A):c.1754C>T (p.Ser585Leu)
|
rs781705809
|
0.00006
|
NM_006514.4(SCN10A):c.3010T>G (p.Ser1004Ala)
|
rs186031413
|
0.00006
|
NM_006514.4(SCN10A):c.3425G>A (p.Arg1142His)
|
rs200584416
|
0.00006
|
NM_006514.4(SCN10A):c.4208T>C (p.Ile1403Thr)
|
rs140825889
|
0.00006
|
NM_006514.4(SCN10A):c.4514C>T (p.Thr1505Met)
|
rs184521520
|
0.00006
|
NM_006514.4(SCN10A):c.5548C>T (p.Gln1850Ter)
|
rs149504103
|
0.00006
|
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu)
|
rs200175704
|
0.00006
|
NM_007078.3(LDB3):c.1697T>G (p.Met566Arg)
|
rs566463138
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007272.3(CTRC):c.39T>C (p.Cys13=)
|
rs747431847
|
0.00006
|
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile)
|
rs587782770
|
0.00006
|
NM_007294.4(BRCA1):c.1747A>G (p.Lys583Glu)
|
rs80356928
|
0.00006
|
NM_007294.4(BRCA1):c.1802A>G (p.His601Arg)
|
rs371631805
|
0.00006
|
NM_007294.4(BRCA1):c.3346G>C (p.Val1116Leu)
|
rs55909400
|
0.00006
|
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly)
|
rs55874646
|
0.00006
|
NM_014000.3(VCL):c.404T>C (p.Ile135Thr)
|
rs373744314
|
0.00006
|
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)
|
rs144857453
|
0.00006
|
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=)
|
rs369947231
|
0.00006
|
NM_017802.4(DNAAF5):c.1976C>T (p.Ala659Val)
|
rs137924231
|
0.00006
|
NM_020297.4(ABCC9):c.3668C>T (p.Thr1223Met)
|
rs137907278
|
0.00006
|
NM_020297.4(ABCC9):c.4512+711G>A
|
rs72559751
|
0.00006
|
NM_020778.5(ALPK3):c.2504C>T (p.Pro835Leu)
|
rs529373050
|
0.00006
|
NM_020778.5(ALPK3):c.2543C>T (p.Pro848Leu)
|
rs372536101
|
0.00006
|
NM_020975.6(RET):c.1894G>A (p.Glu632Lys)
|
rs377767407
|
0.00006
|
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val)
|
rs147260398
|
0.00006
|
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=)
|
rs373560827
|
0.00006
|
NM_022437.3(ABCG8):c.2013A>G (p.Gln671=)
|
rs373862876
|
0.00006
|
NM_024301.5(FKRP):c.1140G>A (p.Gly380=)
|
rs552260353
|
0.00006
|
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)
|
rs193922707
|
0.00006
|
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly)
|
rs368089478
|
0.00006
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00006
|
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr)
|
rs754242563
|
0.00006
|
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val)
|
rs181848049
|
0.00006
|
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr)
|
rs11558550
|
0.00006
|
NM_139058.3(ARX):c.1170C>T (p.Gly390=)
|
rs761632870
|
0.00006
|
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)
|
rs759112760
|
0.00006
|
NM_144997.7(FLCN):c.1274A>G (p.Gln425Arg)
|
rs786203348
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_177438.3(DICER1):c.2898A>G (p.Glu966=)
|
rs375772460
|
0.00006
|
NM_177438.3(DICER1):c.3939G>A (p.Glu1313=)
|
rs191567701
|
0.00006
|
NM_178172.6(GPIHBP1):c.191G>A (p.Arg64Gln)
|
rs578073937
|
0.00006
|
NM_201596.3(CACNB2):c.1206+3A>T
|
rs200174877
|
0.00006
|
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)
|
rs201522866
|
0.00005
|
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)
|
rs201185479
|
0.00005
|
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)
|
rs143796828
|
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_000051.4(ATM):c.3016A>G (p.Met1006Val)
|
rs139893395
|
0.00005
|
NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys)
|
rs372188754
|
0.00005
|
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser)
|
rs398122714
|
0.00005
|
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu)
|
rs201314211
|
0.00005
|
NM_000117.3(EMD):c.525C>T (p.Ser175=)
|
rs782367505
|
0.00005
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
NM_000152.5(GAA):c.1425G>A (p.Pro475=)
|
rs753140491
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00005
|
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=)
|
rs201572666
|
0.00005
|
NM_000219.6(KCNE1):c.-5C>A
|
rs191334763
|
0.00005
|
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile)
|
rs199473353
|
0.00005
|
NM_000235.4(LIPA):c.342C>T (p.Asp114=)
|
rs371133960
|
0.00005
|
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu)
|
rs76420733
|
0.00005
|
NM_000238.4(KCNH2):c.443G>A (p.Arg148Gln)
|
rs374912424
|
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_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.2267C>G (p.Thr756Ser)
|
rs372383829
|
0.00005
|
NM_000251.3(MSH2):c.2694A>C (p.Glu898Asp)
|
rs890670494
|
0.00005
|
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)
|
rs201334592
|
0.00005
|
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln)
|
rs368575559
|
0.00005
|
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His)
|
rs762173989
|
0.00005
|
NM_000335.5(SCN5A):c.128G>A (p.Arg43Gln)
|
rs199473047
|
0.00005
|
NM_000335.5(SCN5A):c.3359C>T (p.Ala1120Val)
|
rs751938579
|
0.00005
|
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp)
|
rs535868591
|
0.00005
|
NM_000384.3(APOB):c.8149G>A (p.Ala2717Thr)
|
rs753292024
|
0.00005
|
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp)
|
rs587780715
|
0.00005
|
NM_000465.4(BARD1):c.709C>G (p.Gln237Glu)
|
rs587780035
|
0.00005
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)
|
rs201295415
|
0.00005
|
NM_000548.5(TSC2):c.2220+4C>G
|
rs781186613
|
0.00005
|
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr)
|
rs759837836
|
0.00005
|
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg)
|
rs186867242
|
0.00005
|
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg)
|
rs200170681
|
0.00005
|
NM_001005242.3(PKP2):c.1379-2072C>T
|
rs758950276
|
0.00005
|
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys)
|
rs559154874
|
0.00005
|
NM_001037.5(SCN1B):c.561C>T (p.Ala187=)
|
rs587781152
|
0.00005
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)
|
rs145191978
|
0.00005
|
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr)
|
rs758893131
|
0.00005
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn)
|
rs587780746
|
0.00005
|
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=)
|
rs140246538
|
0.00005
|
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg)
|
rs201047984
|
0.00005
|
NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr)
|
rs147458476
|
0.00005
|
NM_001148.6(ANK2):c.5063A>G (p.Gln1688Arg)
|
rs369680021
|
0.00005
|
NM_001148.6(ANK2):c.8387C>T (p.Pro2796Leu)
|
rs182956726
|
0.00005
|
NM_001148.6(ANK2):c.8918T>G (p.Val2973Gly)
|
rs142302291
|
0.00005
|
NM_001159699.2(FHL1):c.408C>T (p.Thr136=)
|
rs755900253
|
0.00005
|
NM_001159699.2(FHL1):c.456C>T (p.Ile152=)
|
rs747594885
|
0.00005
|
NM_001267550.2(TTN):c.101213G>A (p.Arg33738His)
|
rs192391568
|
0.00005
|
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser)
|
rs766439271
|
0.00005
|
NM_001267550.2(TTN):c.103215C>T (p.Leu34405=)
|
rs748516187
|
0.00005
|
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys)
|
rs375103237
|
0.00005
|
NM_001267550.2(TTN):c.11855G>A (p.Gly3952Glu)
|
rs779033634
|
0.00005
|
NM_001267550.2(TTN):c.208G>A (p.Val70Met)
|
rs772248060
|
0.00005
|
NM_001267550.2(TTN):c.3030C>T (p.Ser1010=)
|
rs374346637
|
0.00005
|
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=)
|
rs765214404
|
0.00005
|
NM_001267550.2(TTN):c.44542G>A (p.Val14848Met)
|
rs759373140
|
0.00005
|
NM_001267550.2(TTN):c.47196G>C (p.Val15732=)
|
rs369979598
|
0.00005
|
NM_001267550.2(TTN):c.50308C>T (p.Leu16770=)
|
rs370782852
|
0.00005
|
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)
|
rs374672630
|
0.00005
|
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=)
|
rs529480368
|
0.00005
|
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)
|
rs727503588
|
0.00005
|
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)
|
rs373062007
|
0.00005
|
NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly)
|
rs201223583
|
0.00005
|
NM_001267550.2(TTN):c.67637-4A>G
|
rs376053678
|
0.00005
|
NM_001267550.2(TTN):c.73914G>A (p.Glu24638=)
|
rs376382707
|
0.00005
|
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp)
|
rs372787601
|
0.00005
|
NM_001267550.2(TTN):c.77907C>T (p.Asn25969=)
|
rs375903820
|
0.00005
|
NM_001267550.2(TTN):c.7817C>T (p.Ala2606Val)
|
rs370857722
|
0.00005
|
NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr)
|
rs367603381
|
0.00005
|
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=)
|
rs727504857
|
0.00005
|
NM_001267550.2(TTN):c.95541T>G (p.Arg31847=)
|
rs749477738
|
0.00005
|
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg)
|
rs758534800
|
0.00005
|
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg)
|
rs147903846
|
0.00005
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
NM_001291867.2(NHS):c.152C>T (p.Ala51Val)
|
rs727504039
|
0.00005
|
NM_001364171.2(ODAD1):c.377C>T (p.Thr126Met)
|
rs137875815
|
0.00005
|
NM_001365276.2(TNXB):c.4866C>T (p.Pro1622=)
|
rs571254395
|
0.00005
|
NM_001367624.2(ZNF469):c.4745G>A (p.Arg1582His)
|
rs758312819
|
0.00005
|
NM_001367624.2(ZNF469):c.5332C>A (p.Pro1778Thr)
|
rs528985816
|
0.00005
|
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg)
|
rs1163683032
|
0.00005
|
NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu)
|
rs752770883
|
0.00005
|
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val)
|
rs202110907
|
0.00005
|
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)
|
rs149344567
|
0.00005
|
NM_001458.5(FLNC):c.6865G>A (p.Ala2289Thr)
|
rs766740877
|
0.00005
|
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)
|
rs146402368
|
0.00005
|
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr)
|
rs782301706
|
0.00005
|
NM_002230.4(JUP):c.412G>A (p.Glu138Lys)
|
rs150245906
|
0.00005
|
NM_002230.4(JUP):c.460G>A (p.Glu154Lys)
|
rs782765314
|
0.00005
|
NM_002230.4(JUP):c.560C>T (p.Ala187Val)
|
rs782370709
|
0.00005
|
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu)
|
rs146362081
|
0.00005
|
NM_002471.4(MYH6):c.5077G>A (p.Val1693Met)
|
rs373457153
|
0.00005
|
NM_002485.5(NBN):c.1454C>T (p.Thr485Met)
|
rs200891292
|
0.00005
|
NM_002528.7(NTHL1):c.170G>A (p.Arg57His)
|
rs774831009
|
0.00005
|
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)
|
rs147548697
|
0.00005
|
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)
|
rs145739725
|
0.00005
|
NM_004006.3(DMD):c.3375G>A (p.Ser1125=)
|
rs191164314
|
0.00005
|
NM_004006.3(DMD):c.7914T>C (p.Asp2638=)
|
rs754997935
|
0.00005
|
NM_004006.3(DMD):c.8322G>A (p.Leu2774=)
|
rs72466575
|
0.00005
|
NM_004006.3(DMD):c.8886C>T (p.Pro2962=)
|
rs371648038
|
0.00005
|
NM_004304.5(ALK):c.719A>G (p.Tyr240Cys)
|
rs550608288
|
0.00005
|
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met)
|
rs61747631
|
0.00005
|
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys)
|
rs372182377
|
0.00005
|
NM_004415.4(DSP):c.5555G>A (p.Arg1852His)
|
rs193922669
|
0.00005
|
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)
|
rs201826850
|
0.00005
|
NM_004656.4(BAP1):c.1031A>G (p.Asn344Ser)
|
rs142887785
|
0.00005
|
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
|
rs776411681
|
0.00005
|
NM_005431.2(XRCC2):c.115G>A (p.Val39Met)
|
rs730882040
|
0.00005
|
NM_005477.3(HCN4):c.2864C>T (p.Pro955Leu)
|
rs371562763
|
0.00005
|
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=)
|
rs772823827
|
0.00005
|
NM_006514.4(SCN10A):c.3838T>A (p.Ser1280Thr)
|
rs200324539
|
0.00005
|
NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala)
|
rs200083101
|
0.00005
|
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)
|
rs45521338
|
0.00005
|
NM_007078.3(LDB3):c.992C>T (p.Ala331Val)
|
rs368053281
|
0.00005
|
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu)
|
rs560719255
|
0.00005
|
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)
|
rs750785483
|
0.00005
|
NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His)
|
rs149610399
|
0.00005
|
NM_020297.4(ABCC9):c.4512+777G>A
|
rs542730918
|
0.00005
|
NM_020778.5(ALPK3):c.2648C>T (p.Pro883Leu)
|
rs771710451
|
0.00005
|
NM_020778.5(ALPK3):c.2660C>T (p.Pro887Leu)
|
rs759973437
|
0.00005
|
NM_020778.5(ALPK3):c.695C>T (p.Ala232Val)
|
rs777917827
|
0.00005
|
NM_022773.4(LMF1):c.910G>A (p.Val304Ile)
|
rs763719430
|
0.00005
|
NM_024334.3(TMEM43):c.679C>G (p.His227Asp)
|
rs201460674
|
0.00005
|
NM_024529.5(CDC73):c.1031-5C>T
|
rs746118697
|
0.00005
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
NM_032578.4(MYPN):c.1858A>G (p.Thr620Ala)
|
rs144031245
|
0.00005
|
NM_144573.4(NEXN):c.865-5G>A
|
rs727505353
|
0.00005
|
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)
|
rs139669564
|
0.00005
|
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met)
|
rs193291760
|
0.00005
|
NM_000038.6(APC):c.2534G>A (p.Arg845His)
|
rs776878597
|
0.00004
|
NM_000038.6(APC):c.2627G>A (p.Arg876Gln)
|
rs373428732
|
0.00004
|
NM_000038.6(APC):c.263G>A (p.Arg88Gln)
|
rs587780592
|
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.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.4901C>T (p.Pro1634Leu)
|
rs370433763
|
0.00004
|
NM_000038.6(APC):c.5083A>G (p.Arg1695Gly)
|
rs555019540
|
0.00004
|
NM_000038.6(APC):c.5839A>G (p.Thr1947Ala)
|
rs746346292
|
0.00004
|
NM_000038.6(APC):c.6019T>C (p.Tyr2007His)
|
rs745811356
|
0.00004
|
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)
|
rs372418435
|
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.7531C>T (p.Leu2511Phe)
|
rs72541815
|
0.00004
|
NM_000038.6(APC):c.7570A>G (p.Lys2524Glu)
|
rs143060722
|
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.8402G>A (p.Arg2801Gln)
|
rs754363694
|
0.00004
|
NM_000038.6(APC):c.995G>A (p.Arg332Gln)
|
rs377665107
|
0.00004
|
NM_000039.3(APOA1):c.498C>A (p.Ser166Arg)
|
rs757899657
|
0.00004
|
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)
|
rs201719927
|
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.3378A>G (p.Lys1126=)
|
rs149182949
|
0.00004
|
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)
|
rs587779841
|
0.00004
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)
|
rs55880859
|
0.00004
|
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)
|
rs750532596
|
0.00004
|
NM_000057.4(BLM):c.722G>A (p.Gly241Asp)
|
rs200897029
|
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.3032C>G (p.Thr1011Arg)
|
rs80358548
|
0.00004
|
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)
|
rs375125172
|
0.00004
|
NM_000059.4(BRCA2):c.4873G>A (p.Glu1625Lys)
|
rs587782754
|
0.00004
|
NM_000059.4(BRCA2):c.4898T>C (p.Ile1633Thr)
|
rs80358714
|
0.00004
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
rs80358842
|
0.00004
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly)
|
rs80359041
|
0.00004
|
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)
|
rs756750256
|
0.00004
|
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)
|
rs781491172
|
0.00004
|
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu)
|
rs886038849
|
0.00004
|
NM_000117.3(EMD):c.171C>T (p.Ser57=)
|
rs900267221
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000152.5(GAA):c.912C>T (p.Gly304=)
|
rs368741815
|
0.00004
|
NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg)
|
rs543636524
|
0.00004
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)
|
rs587779207
|
0.00004
|
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)
|
rs201096652
|
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.3801+5G>A
|
rs201080919
|
0.00004
|
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=)
|
rs542831744
|
0.00004
|
NM_000235.4(LIPA):c.714G>A (p.Ala238=)
|
rs139282720
|
0.00004
|
NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val)
|
rs765427343
|
0.00004
|
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp)
|
rs199473021
|
0.00004
|
NM_000245.4(MET):c.1132G>A (p.Val378Ile)
|
rs749738523
|
0.00004
|
NM_000245.4(MET):c.2103-4T>C
|
rs753740913
|
0.00004
|
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)
|
rs141344760
|
0.00004
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
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_000251.3(MSH2):c.1021C>G (p.Leu341Val)
|
rs748115066
|
0.00004
|
NM_000251.3(MSH2):c.1530G>C (p.Gln510His)
|
rs587782355
|
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.2211-6C>A
|
rs267608003
|
0.00004
|
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)
|
rs587779973
|
0.00004
|
NM_000251.3(MSH2):c.958A>G (p.Thr320Ala)
|
rs368982417
|
0.00004
|
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=)
|
rs375007425
|
0.00004
|
NM_000256.3(MYBPC3):c.1091C>T (p.Ala364Val)
|
rs778161908
|
0.00004
|
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu)
|
rs730880565
|
0.00004
|
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met)
|
rs371061770
|
0.00004
|
NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val)
|
rs730880594
|
0.00004
|
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)
|
rs886050418
|
0.00004
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)
|
rs774824164
|
0.00004
|
NM_000268.4(NF2):c.325C>T (p.Leu109=)
|
rs201603384
|
0.00004
|
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp)
|
rs367668687
|
0.00004
|
NM_000335.5(SCN5A):c.1914C>T (p.Gly638=)
|
rs764488677
|
0.00004
|
NM_000335.5(SCN5A):c.1915G>A (p.Gly639Arg)
|
rs199473136
|
0.00004
|
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu)
|
rs199473147
|
0.00004
|
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=)
|
rs878911306
|
0.00004
|
NM_000335.5(SCN5A):c.3574C>T (p.Arg1192Trp)
|
rs192379242
|
0.00004
|
NM_000335.5(SCN5A):c.43A>G (p.Arg15Gly)
|
rs752553088
|
0.00004
|
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln)
|
rs41311087
|
0.00004
|
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val)
|
rs371194826
|
0.00004
|
NM_000368.5(TSC1):c.1332A>G (p.Ser444=)
|
rs773003016
|
0.00004
|
NM_000384.3(APOB):c.12695A>G (p.Tyr4232Cys)
|
rs767269509
|
0.00004
|
NM_000384.3(APOB):c.6100A>G (p.Ile2034Val)
|
rs200339216
|
0.00004
|
NM_000384.3(APOB):c.6283G>A (p.Val2095Ile)
|
rs200874264
|
0.00004
|
NM_000455.5(STK11):c.1109-3C>T
|
rs864622219
|
0.00004
|
NM_000455.5(STK11):c.298C>G (p.Gln100Glu)
|
rs757841535
|
0.00004
|
NM_000455.5(STK11):c.613G>A (p.Ala205Thr)
|
rs730881981
|
0.00004
|
NM_000455.5(STK11):c.631C>T (p.Arg211Trp)
|
rs185087320
|
0.00004
|
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=)
|
rs780554506
|
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.353A>G (p.Asn118Ser)
|
rs142864491
|
0.00004
|
NM_000492.4(CFTR):c.2490+14G>T
|
rs573016418
|
0.00004
|
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala)
|
rs587781382
|
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_000535.7(PMS2):c.475G>A (p.Val159Met)
|
rs142416537
|
0.00004
|
NM_000535.7(PMS2):c.591C>T (p.Gly197=)
|
rs748518694
|
0.00004
|
NM_000535.7(PMS2):c.916G>A (p.Val306Met)
|
rs587780063
|
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.998G>A (p.Arg333His)
|
rs573154688
|
0.00004
|
NM_000548.5(TSC2):c.1365C>T (p.Ser455=)
|
rs34567401
|
0.00004
|
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val)
|
rs371074761
|
0.00004
|
NM_000548.5(TSC2):c.2887G>A (p.Val963Met)
|
rs45517275
|
0.00004
|
NM_000548.5(TSC2):c.5234G>A (p.Arg1745His)
|
rs766093661
|
0.00004
|
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=)
|
rs398123517
|
0.00004
|
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=)
|
rs587780881
|
0.00004
|
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=)
|
rs748616891
|
0.00004
|
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met)
|
rs144022753
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2102C>G
|
rs762631031
|
0.00004
|
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=)
|
rs727504098
|
0.00004
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
NM_001005242.3(PKP2):c.789G>A (p.Thr263=)
|
rs760432217
|
0.00004
|
NM_001040151.2(SCN3B):c.73G>T (p.Val25Leu)
|
rs746954414
|
0.00004
|
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)
|
rs373563053
|
0.00004
|
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn)
|
rs374472758
|
0.00004
|
NM_001042492.3(NF1):c.3690G>T (p.Val1230=)
|
rs183296277
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001042492.3(NF1):c.6428-3C>T
|
rs374014162
|
0.00004
|
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala)
|
rs745945481
|
0.00004
|
NM_001042492.3(NF1):c.7046G>A (p.Arg2349His)
|
rs864622065
|
0.00004
|
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala)
|
rs145794301
|
0.00004
|
NM_001042492.3(NF1):c.8490C>A (p.Phe2830Leu)
|
rs760550772
|
0.00004
|
NM_001042492.3(NF1):c.898C>T (p.Leu300=)
|
rs786201926
|
0.00004
|
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)
|
rs587778542
|
0.00004
|
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)
|
rs146272618
|
0.00004
|
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)
|
rs370770104
|
0.00004
|
NM_001105206.3(LAMA4):c.3165C>T (p.Ser1055=)
|
rs782303510
|
0.00004
|
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)
|
rs370905417
|
0.00004
|
NM_001148.6(ANK2):c.10503A>G (p.Ile3501Met)
|
rs370472530
|
0.00004
|
NM_001148.6(ANK2):c.10945A>G (p.Met3649Val)
|
rs145856327
|
0.00004
|
NM_001148.6(ANK2):c.1773T>C (p.Ser591=)
|
rs374775005
|
0.00004
|
NM_001148.6(ANK2):c.5329G>C (p.Val1777Leu)
|
rs886059014
|
0.00004
|
NM_001148.6(ANK2):c.5758G>A (p.Gly1920Arg)
|
rs140189724
|
0.00004
|
NM_001148.6(ANK2):c.6973G>C (p.Asp2325His)
|
rs1298469624
|
0.00004
|
NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe)
|
rs758054052
|
0.00004
|
NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys)
|
rs562115547
|
0.00004
|
NM_001148.6(ANK2):c.8041C>G (p.Leu2681Val)
|
rs1489919946
|
0.00004
|
NM_001148.6(ANK2):c.9679A>C (p.Thr3227Pro)
|
rs140604600
|
0.00004
|
NM_001267550.2(TTN):c.101037G>A (p.Gln33679=)
|
rs377190399
|
0.00004
|
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile)
|
rs774524898
|
0.00004
|
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln)
|
rs530537991
|
0.00004
|
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile)
|
rs754459138
|
0.00004
|
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)
|
rs727503660
|
0.00004
|
NM_001267550.2(TTN):c.2358C>G (p.His786Gln)
|
rs199507913
|
0.00004
|
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)
|
rs766935265
|
0.00004
|
NM_001267550.2(TTN):c.40557C>T (p.Ser13519=)
|
rs371178429
|
0.00004
|
NM_001267550.2(TTN):c.4284T>A (p.Ser1428=)
|
rs771454835
|
0.00004
|
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)
|
rs368572799
|
0.00004
|
NM_001267550.2(TTN):c.42873G>A (p.Ala14291=)
|
rs370216450
|
0.00004
|
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr)
|
rs397517571
|
0.00004
|
NM_001267550.2(TTN):c.44418C>T (p.Ser14806=)
|
rs368005198
|
0.00004
|
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=)
|
rs781392140
|
0.00004
|
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr)
|
rs184078045
|
0.00004
|
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)
|
rs371299188
|
0.00004
|
NM_001267550.2(TTN):c.47217C>T (p.Gly15739=)
|
rs373305832
|
0.00004
|
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)
|
rs376188859
|
0.00004
|
NM_001267550.2(TTN):c.51249C>A (p.Val17083=)
|
rs377342233
|
0.00004
|
NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp)
|
rs773746281
|
0.00004
|
NM_001267550.2(TTN):c.54360T>C (p.Thr18120=)
|
rs749248039
|
0.00004
|
NM_001267550.2(TTN):c.54477C>G (p.Val18159=)
|
rs374335905
|
0.00004
|
NM_001267550.2(TTN):c.56640C>A (p.Asn18880Lys)
|
rs200544272
|
0.00004
|
NM_001267550.2(TTN):c.57971G>A (p.Arg19324Gln)
|
rs186809500
|
0.00004
|
NM_001267550.2(TTN):c.58008T>C (p.Asn19336=)
|
rs770525693
|
0.00004
|
NM_001267550.2(TTN):c.597A>G (p.Val199=)
|
rs144214844
|
0.00004
|
NM_001267550.2(TTN):c.60786T>C (p.Pro20262=)
|
rs1217782958
|
0.00004
|
NM_001267550.2(TTN):c.61481T>C (p.Ile20494Thr)
|
rs374845737
|
0.00004
|
NM_001267550.2(TTN):c.62547G>A (p.Thr20849=)
|
rs368969893
|
0.00004
|
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser)
|
rs375401971
|
0.00004
|
NM_001267550.2(TTN):c.64959G>A (p.Ala21653=)
|
rs776272431
|
0.00004
|
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe)
|
rs374736305
|
0.00004
|
NM_001267550.2(TTN):c.66288A>G (p.Glu22096=)
|
rs368297582
|
0.00004
|
NM_001267550.2(TTN):c.70328G>A (p.Arg23443Gln)
|
rs762529671
|
0.00004
|
NM_001267550.2(TTN):c.70743C>T (p.His23581=)
|
rs375194057
|
0.00004
|
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)
|
rs377220635
|
0.00004
|
NM_001267550.2(TTN):c.73935C>A (p.Gly24645=)
|
rs375726644
|
0.00004
|
NM_001267550.2(TTN):c.73937G>A (p.Ser24646Asn)
|
rs370902028
|
0.00004
|
NM_001267550.2(TTN):c.75969T>C (p.Val25323=)
|
rs368759398
|
0.00004
|
NM_001267550.2(TTN):c.76527C>T (p.Asp25509=)
|
rs780539951
|
0.00004
|
NM_001267550.2(TTN):c.77268A>G (p.Ala25756=)
|
rs376372388
|
0.00004
|
NM_001267550.2(TTN):c.7815C>T (p.Tyr2605=)
|
rs184428451
|
0.00004
|
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=)
|
rs368270588
|
0.00004
|
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His)
|
rs530507211
|
0.00004
|
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=)
|
rs748292845
|
0.00004
|
NM_001267550.2(TTN):c.81147T>C (p.Ala27049=)
|
rs765706611
|
0.00004
|
NM_001267550.2(TTN):c.83580G>A (p.Val27860=)
|
rs200096597
|
0.00004
|
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=)
|
rs375442124
|
0.00004
|
NM_001267550.2(TTN):c.8640G>A (p.Glu2880=)
|
rs879222360
|
0.00004
|
NM_001267550.2(TTN):c.86538A>T (p.Pro28846=)
|
rs747423090
|
0.00004
|
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=)
|
rs397517736
|
0.00004
|
NM_001267550.2(TTN):c.87495C>T (p.Asp29165=)
|
rs371763584
|
0.00004
|
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=)
|
rs368525666
|
0.00004
|
NM_001267550.2(TTN):c.90237C>T (p.His30079=)
|
rs756663688
|
0.00004
|
NM_001267550.2(TTN):c.9050G>A (p.Arg3017Lys)
|
rs372303620
|
0.00004
|
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=)
|
rs727504439
|
0.00004
|
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=)
|
rs886044458
|
0.00004
|
NM_001267550.2(TTN):c.9402C>T (p.Asn3134=)
|
rs587780987
|
0.00004
|
NM_001267550.2(TTN):c.96225T>A (p.Val32075=)
|
rs752745266
|
0.00004
|
NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly)
|
rs55634230
|
0.00004
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
NM_001276345.2(TNNT2):c.720-5T>G
|
rs730881092
|
0.00004
|
NM_001277115.2(DNAH11):c.2547A>G (p.Leu849=)
|
rs535761458
|
0.00004
|
NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met)
|
rs201560152
|
0.00004
|
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=)
|
rs140332992
|
0.00004
|
NM_001364171.2(ODAD1):c.1313G>A (p.Ser438Asn)
|
rs201757586
|
0.00004
|
NM_001367624.2(ZNF469):c.11216G>A (p.Arg3739His)
|
rs958618412
|
0.00004
|
NM_001367624.2(ZNF469):c.4223C>T (p.Pro1408Leu)
|
rs770568316
|
0.00004
|
NM_001367624.2(ZNF469):c.4433C>G (p.Ser1478Cys)
|
rs751396157
|
0.00004
|
NM_001367624.2(ZNF469):c.4849C>T (p.Pro1617Ser)
|
rs557351664
|
0.00004
|
NM_001367624.2(ZNF469):c.5828G>A (p.Gly1943Asp)
|
rs923668514
|
0.00004
|
NM_001367624.2(ZNF469):c.5967C>T (p.Ala1989=)
|
rs955767732
|
0.00004
|
NM_001367624.2(ZNF469):c.6322G>A (p.Gly2108Arg)
|
rs749986676
|
0.00004
|
NM_001367624.2(ZNF469):c.793G>A (p.Gly265Ser)
|
rs754776767
|
0.00004
|
NM_001367624.2(ZNF469):c.7975G>A (p.Gly2659Arg)
|
rs370043591
|
0.00004
|
NM_001367624.2(ZNF469):c.9327G>C (p.Lys3109Asn)
|
rs369198557
|
0.00004
|
NM_001369.3(DNAH5):c.1982G>A (p.Arg661His)
|
rs185855852
|
0.00004
|
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)
|
rs587780843
|
0.00004
|
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)
|
rs750087396
|
0.00004
|
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)
|
rs541576664
|
0.00004
|
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=)
|
rs199967386
|
0.00004
|
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)
|
rs151164490
|
0.00004
|
NM_001379200.1(TBX1):c.1161C>T (p.Gly387=)
|
rs941116789
|
0.00004
|
NM_001458.5(FLNC):c.6390C>T (p.Gly2130=)
|
rs746751083
|
0.00004
|
NM_001458.5(FLNC):c.7256C>T (p.Thr2419Met)
|
rs199768217
|
0.00004
|
NM_001458.5(FLNC):c.7560C>T (p.Thr2520=)
|
rs527921534
|
0.00004
|
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr)
|
rs201046640
|
0.00004
|
NM_001943.5(DSG2):c.2004G>A (p.Val668=)
|
rs773645222
|
0.00004
|
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys)
|
rs201845396
|
0.00004
|
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe)
|
rs141405267
|
0.00004
|
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=)
|
rs532983875
|
0.00004
|
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
|
rs150194093
|
0.00004
|
NM_002230.4(JUP):c.115A>G (p.Ser39Gly)
|
rs782211863
|
0.00004
|
NM_002230.4(JUP):c.1280C>T (p.Thr427Met)
|
rs781982717
|
0.00004
|
NM_002230.4(JUP):c.1331G>A (p.Arg444His)
|
rs369507567
|
0.00004
|
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu)
|
rs781883243
|
0.00004
|
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn)
|
rs781804177
|
0.00004
|
NM_002230.4(JUP):c.607C>T (p.Arg203Cys)
|
rs147354282
|
0.00004
|
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile)
|
rs141574558
|
0.00004
|
NM_002382.5(MAX):c.56A>T (p.Gln19Leu)
|
rs200547781
|
0.00004
|
NM_002439.5(MSH3):c.1361G>A (p.Arg454Gln)
|
rs144798521
|
0.00004
|
NM_002439.5(MSH3):c.146C>G (p.Pro49Arg)
|
rs564858245
|
0.00004
|
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr)
|
rs556536964
|
0.00004
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
NM_002485.5(NBN):c.595C>T (p.Pro199Ser)
|
rs587780097
|
0.00004
|
NM_002691.4(POLD1):c.1118A>G (p.Lys373Arg)
|
rs770407151
|
0.00004
|
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)
|
rs572274623
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_002880.4(RAF1):c.853A>G (p.Ser285Gly)
|
rs150054973
|
0.00004
|
NM_002890.3(RASA1):c.2020C>T (p.Arg674Cys)
|
rs370631681
|
0.00004
|
NM_003072.5(SMARCA4):c.1847C>T (p.Pro616Leu)
|
rs755935365
|
0.00004
|
NM_003072.5(SMARCA4):c.247G>A (p.Gly83Ser)
|
rs766474711
|
0.00004
|
NM_003072.5(SMARCA4):c.4847C>T (p.Pro1616Leu)
|
rs878854234
|
0.00004
|
NM_003098.3(SNTA1):c.820C>T (p.Arg274Trp)
|
rs201763667
|
0.00004
|
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)
|
rs768508812
|
0.00004
|
NM_003673.4(TCAP):c.447C>T (p.Pro149=)
|
rs45614332
|
0.00004
|
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)
|
rs559227588
|
0.00004
|
NM_004006.3(DMD):c.10128A>G (p.Leu3376=)
|
rs755438733
|
0.00004
|
NM_004006.3(DMD):c.1848C>A (p.Ser616=)
|
rs376024929
|
0.00004
|
NM_004006.3(DMD):c.2252G>A (p.Arg751Gln)
|
rs747802164
|
0.00004
|
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)
|
rs398123931
|
0.00004
|
NM_004006.3(DMD):c.618A>G (p.Gln206=)
|
rs727503865
|
0.00004
|
NM_004006.3(DMD):c.7130C>T (p.Pro2377Leu)
|
rs201262489
|
0.00004
|
NM_004006.3(DMD):c.9091G>A (p.Val3031Ile)
|
rs143426249
|
0.00004
|
NM_004006.3(DMD):c.9198G>A (p.Ser3066=)
|
rs753594128
|
0.00004
|
NM_004304.5(ALK):c.1044C>T (p.Ala348=)
|
rs200293454
|
0.00004
|
NM_004304.5(ALK):c.1787T>C (p.Met596Thr)
|
rs754810505
|
0.00004
|
NM_004304.5(ALK):c.32C>T (p.Pro11Leu)
|
rs767822322
|
0.00004
|
NM_004304.5(ALK):c.3331G>T (p.Val1111Leu)
|
rs752052590
|
0.00004
|
NM_004304.5(ALK):c.3645G>A (p.Pro1215=)
|
rs775768862
|
0.00004
|
NM_004304.5(ALK):c.4801G>A (p.Ala1601Thr)
|
rs376702277
|
0.00004
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00004
|
NM_004333.6(BRAF):c.915G>A (p.Ala305=)
|
rs145675911
|
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.1865A>G (p.Asn622Ser)
|
rs147925149
|
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.2336G>A (p.Arg779Gln)
|
rs587781311
|
0.00004
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
NM_004360.5(CDH1):c.2450C>T (p.Ala817Val)
|
rs587782024
|
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.377C>T (p.Pro126Leu)
|
rs746703615
|
0.00004
|
NM_004360.5(CDH1):c.712A>C (p.Asn238His)
|
rs730881664
|
0.00004
|
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)
|
rs771016864
|
0.00004
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp)
|
rs200336897
|
0.00004
|
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val)
|
rs749124581
|
0.00004
|
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys)
|
rs550818559
|
0.00004
|
NM_004655.4(AXIN2):c.1553A>G (p.Tyr518Cys)
|
rs368289818
|
0.00004
|
NM_004655.4(AXIN2):c.2379G>A (p.Glu793=)
|
rs1367633896
|
0.00004
|
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys)
|
rs201844078
|
0.00004
|
NM_004656.4(BAP1):c.1216G>A (p.Glu406Lys)
|
rs748928044
|
0.00004
|
NM_004656.4(BAP1):c.1810G>A (p.Val604Met)
|
rs369065146
|
0.00004
|
NM_004656.4(BAP1):c.206C>T (p.Thr69Met)
|
rs572063023
|
0.00004
|
NM_004656.4(BAP1):c.944A>C (p.Glu315Ala)
|
rs149974450
|
0.00004
|
NM_005431.2(XRCC2):c.501C>A (p.Asn167Lys)
|
rs149929851
|
0.00004
|
NM_005431.2(XRCC2):c.581C>T (p.Thr194Met)
|
rs775565256
|
0.00004
|
NM_005477.3(HCN4):c.3582A>G (p.Pro1194=)
|
rs375637572
|
0.00004
|
NM_005591.4(MRE11):c.1972A>G (p.Thr658Ala)
|
rs587782756
|
0.00004
|
NM_005633.4(SOS1):c.115G>A (p.Glu39Lys)
|
rs375934353
|
0.00004
|
NM_005732.4(RAD50):c.205G>A (p.Asp69Asn)
|
rs370769989
|
0.00004
|
NM_005751.5(AKAP9):c.10560A>G (p.Gln3520=)
|
rs369522150
|
0.00004
|
NM_005751.5(AKAP9):c.4840C>T (p.Arg1614Trp)
|
rs772669837
|
0.00004
|
NM_005751.5(AKAP9):c.5251C>T (p.Arg1751Cys)
|
rs144269839
|
0.00004
|
NM_005751.5(AKAP9):c.5543C>G (p.Ser1848Cys)
|
rs189083857
|
0.00004
|
NM_005751.5(AKAP9):c.8189A>G (p.Gln2730Arg)
|
rs80191629
|
0.00004
|
NM_006206.6(PDGFRA):c.2470G>A (p.Val824Ile)
|
rs370600501
|
0.00004
|
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)
|
rs372459649
|
0.00004
|
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser)
|
rs150545516
|
0.00004
|
NM_006231.4(POLE):c.6135C>T (p.Pro2045=)
|
rs368662693
|
0.00004
|
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys)
|
rs183950022
|
0.00004
|
NM_006514.4(SCN10A):c.1110G>T (p.Gly370=)
|
rs267599808
|
0.00004
|
NM_006514.4(SCN10A):c.3156A>G (p.Thr1052=)
|
rs777642089
|
0.00004
|
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu)
|
rs183497403
|
0.00004
|
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser)
|
rs772106134
|
0.00004
|
NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser)
|
rs730880129
|
0.00004
|
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn)
|
rs45514002
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00004
|
NM_007272.3(CTRC):c.81C>T (p.Ser27=)
|
rs749455108
|
0.00004
|
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)
|
rs80356899
|
0.00004
|
NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro)
|
rs80357483
|
0.00004
|
NM_007294.4(BRCA1):c.4669G>C (p.Asp1557His)
|
rs80356906
|
0.00004
|
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser)
|
rs80357088
|
0.00004
|
NM_014000.3(VCL):c.2652G>A (p.Glu884=)
|
rs371187988
|
0.00004
|
NM_014000.3(VCL):c.45G>A (p.Pro15=)
|
rs775062250
|
0.00004
|
NM_014391.3(ANKRD1):c.545G>A (p.Arg182His)
|
rs530739375
|
0.00004
|
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys)
|
rs72552294
|
0.00004
|
NM_018238.4(AGK):c.55C>T (p.Leu19Phe)
|
rs367844999
|
0.00004
|
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg)
|
rs183142477
|
0.00004
|
NM_020297.4(ABCC9):c.1455+4A>C
|
rs376587222
|
0.00004
|
NM_020778.5(ALPK3):c.4637G>C (p.Ser1546Thr)
|
rs373750743
|
0.00004
|
NM_020975.6(RET):c.718G>C (p.Val240Leu)
|
rs375120544
|
0.00004
|
NM_021098.3(CACNA1H):c.4224G>A (p.Arg1408=)
|
rs771972820
|
0.00004
|
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile)
|
rs747785443
|
0.00004
|
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=)
|
rs567287489
|
0.00004
|
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met)
|
rs768674400
|
0.00004
|
NM_022436.3(ABCG5):c.1398C>T (p.Ala466=)
|
rs373514009
|
0.00004
|
NM_022436.3(ABCG5):c.915G>A (p.Thr305=)
|
rs773296588
|
0.00004
|
NM_022437.3(ABCG8):c.15G>A (p.Ala5=)
|
rs200951677
|
0.00004
|
NM_022437.3(ABCG8):c.331A>C (p.Arg111=)
|
rs752358589
|
0.00004
|
NM_022437.3(ABCG8):c.369C>T (p.His123=)
|
rs139859350
|
0.00004
|
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr)
|
rs772557416
|
0.00004
|
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp)
|
rs780428043
|
0.00004
|
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=)
|
rs200043910
|
0.00004
|
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=)
|
rs761516740
|
0.00004
|
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile)
|
rs750750518
|
0.00004
|
NM_024301.5(FKRP):c.1236C>T (p.His412=)
|
rs201076863
|
0.00004
|
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu)
|
rs376514478
|
0.00004
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys)
|
rs201094625
|
0.00004
|
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg)
|
rs397517384
|
0.00004
|
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu)
|
rs397517394
|
0.00004
|
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn)
|
rs762055797
|
0.00004
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
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.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_024675.4(PALB2):c.668T>C (p.Ile223Thr)
|
rs150517167
|
0.00004
|
NM_031885.5(BBS2):c.962C>T (p.Thr321Met)
|
rs758548498
|
0.00004
|
NM_032578.4(MYPN):c.578A>G (p.Gln193Arg)
|
rs573684358
|
0.00004
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
NM_033337.3(CAV3):c.384C>T (p.Phe128=)
|
rs773934743
|
0.00004
|
NM_033360.4(KRAS):c.93A>G (p.Glu31=)
|
rs377354475
|
0.00004
|
NM_053025.4(MYLK):c.5001C>T (p.Asn1667=)
|
rs375038682
|
0.00004
|
NM_053025.4(MYLK):c.969G>A (p.Glu323=)
|
rs368095613
|
0.00004
|
NM_053025.4(MYLK):c.998C>T (p.Pro333Leu)
|
rs568039936
|
0.00004
|
NM_058216.3(RAD51C):c.635G>A (p.Arg212His)
|
rs200857129
|
0.00004
|
NM_058216.3(RAD51C):c.956G>A (p.Arg319Gln)
|
rs367846829
|
0.00004
|
NM_144573.4(NEXN):c.249G>A (p.Glu83=)
|
rs372532824
|
0.00004
|
NM_170707.4(LMNA):c.1311C>T (p.Ser437=)
|
rs763224059
|
0.00004
|
NM_170707.4(LMNA):c.726G>A (p.Ala242=)
|
rs763625309
|
0.00004
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp)
|
rs141423405
|
0.00004
|
NM_177438.3(DICER1):c.2033C>T (p.Ser678Phe)
|
rs544623004
|
0.00004
|
NM_177438.3(DICER1):c.2658C>T (p.Asp886=)
|
rs771049445
|
0.00004
|
NM_177438.3(DICER1):c.4051-4A>G
|
rs755235399
|
0.00004
|
NM_177438.3(DICER1):c.4889G>A (p.Arg1630His)
|
rs368343829
|
0.00004
|
NM_198253.3(TERT):c.2255A>G (p.His752Arg)
|
rs375699185
|
0.00004
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
NM_000038.6(APC):c.1241G>A (p.Arg414His)
|
rs730881233
|
0.00003
|
NM_000038.6(APC):c.1966C>G (p.Leu656Val)
|
rs577466163
|
0.00003
|
NM_000038.6(APC):c.2090C>T (p.Ala697Val)
|
rs761733547
|
0.00003
|
NM_000038.6(APC):c.2203G>C (p.Ala735Pro)
|
rs559313229
|
0.00003
|
NM_000038.6(APC):c.2738A>G (p.His913Arg)
|
rs762572576
|
0.00003
|
NM_000038.6(APC):c.2966A>G (p.Asp989Gly)
|
rs770976457
|
0.00003
|
NM_000038.6(APC):c.296G>A (p.Arg99Gln)
|
rs199842850
|
0.00003
|
NM_000038.6(APC):c.379A>G (p.Ser127Gly)
|
rs200089324
|
0.00003
|
NM_000038.6(APC):c.4334C>T (p.Thr1445Ile)
|
rs760686348
|
0.00003
|
NM_000038.6(APC):c.4525C>T (p.Leu1509=)
|
rs572839648
|
0.00003
|
NM_000038.6(APC):c.5179T>C (p.Cys1727Arg)
|
rs758815860
|
0.00003
|
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)
|
rs587779799
|
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.7174C>A (p.Pro2392Thr)
|
rs730881257
|
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.791A>G (p.Gln264Arg)
|
rs369345931
|
0.00003
|
NM_000038.6(APC):c.8273A>G (p.Glu2758Gly)
|
rs371616945
|
0.00003
|
NM_000038.6(APC):c.854A>G (p.Asp285Gly)
|
rs201093383
|
0.00003
|
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)
|
rs141175037
|
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.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
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.4964C>A (p.Ser1655Tyr)
|
rs786201215
|
0.00003
|
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)
|
rs80358396
|
0.00003
|
NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)
|
rs587782137
|
0.00003
|
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)
|
rs80358442
|
0.00003
|
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile)
|
rs80358448
|
0.00003
|
NM_000059.4(BRCA2):c.235A>G (p.Ile79Val)
|
rs80358502
|
0.00003
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
rs80358568
|
0.00003
|
NM_000059.4(BRCA2):c.3904A>T (p.Thr1302Ser)
|
rs543339423
|
0.00003
|
NM_000059.4(BRCA2):c.4483G>A (p.Val1495Ile)
|
rs80358680
|
0.00003
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
NM_000059.4(BRCA2):c.6827C>A (p.Pro2276His)
|
rs748541466
|
0.00003
|
NM_000059.4(BRCA2):c.7301A>C (p.Lys2434Thr)
|
rs80358954
|
0.00003
|
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg)
|
rs55647716
|
0.00003
|
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn)
|
rs80359056
|
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_000088.4(COL1A1):c.3258C>T (p.Pro1086=)
|
rs200319927
|
0.00003
|
NM_000089.4(COL1A2):c.2799T>C (p.Asp933=)
|
rs751960243
|
0.00003
|
NM_000117.3(EMD):c.243C>T (p.Asp81=)
|
rs150757295
|
0.00003
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
NM_000152.5(GAA):c.2656G>A (p.Val886Met)
|
rs372802420
|
0.00003
|
NM_000152.5(GAA):c.2739C>G (p.Pro913=)
|
rs370765733
|
0.00003
|
NM_000162.5(GCK):c.198A>G (p.Pro66=)
|
rs377410513
|
0.00003
|
NM_000169.3(GLA):c.714T>C (p.Ser238=)
|
rs397515872
|
0.00003
|
NM_000179.3(MSH6):c.115G>A (p.Gly39Arg)
|
rs751838296
|
0.00003
|
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser)
|
rs868760377
|
0.00003
|
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)
|
rs587779926
|
0.00003
|
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)
|
rs730881813
|
0.00003
|
NM_000179.3(MSH6):c.956C>T (p.Thr319Met)
|
rs188252826
|
0.00003
|
NM_000214.3(JAG1):c.48C>A (p.Leu16=)
|
rs901489977
|
0.00003
|
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser)
|
rs199473644
|
0.00003
|
NM_000235.4(LIPA):c.846A>G (p.Thr282=)
|
rs534838107
|
0.00003
|
NM_000238.4(KCNH2):c.2600T>C (p.Met867Thr)
|
rs752020408
|
0.00003
|
NM_000238.4(KCNH2):c.2792C>T (p.Pro931Leu)
|
rs749759697
|
0.00003
|
NM_000238.4(KCNH2):c.76+3G>A
|
rs779301847
|
0.00003
|
NM_000245.4(MET):c.1643C>T (p.Ser548Leu)
|
rs767715328
|
0.00003
|
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)
|
rs771044689
|
0.00003
|
NM_000249.4(MLH1):c.286A>G (p.Thr96Ala)
|
rs770276731
|
0.00003
|
NM_000249.4(MLH1):c.644A>G (p.Asn215Ser)
|
rs267607775
|
0.00003
|
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)
|
rs63751412
|
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.1429A>C (p.Asn477His)
|
rs587781346
|
0.00003
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly)
|
rs370330868
|
0.00003
|
NM_000251.3(MSH2):c.2138G>A (p.Gly713Glu)
|
rs753555602
|
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.409G>C (p.Gly137Arg)
|
rs587781795
|
0.00003
|
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)
|
rs767747378
|
0.00003
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
NM_000251.3(MSH2):c.874A>T (p.Thr292Ser)
|
rs104895022
|
0.00003
|
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys)
|
rs63750732
|
0.00003
|
NM_000257.4(MYH7):c.1632C>T (p.Thr544=)
|
rs587781089
|
0.00003
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
NM_000257.4(MYH7):c.540C>A (p.Ser180=)
|
rs369490861
|
0.00003
|
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
|
rs774971794
|
0.00003
|
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val)
|
rs774440323
|
0.00003
|
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met)
|
rs202052415
|
0.00003
|
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro)
|
rs372422922
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000321.3(RB1):c.80C>G (p.Pro27Arg)
|
rs925399787
|
0.00003
|
NM_000335.5(SCN5A):c.1558A>G (p.Met520Val)
|
rs769799503
|
0.00003
|
NM_000335.5(SCN5A):c.21T>A (p.Pro7=)
|
rs587781157
|
0.00003
|
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)
|
rs199473187
|
0.00003
|
NM_000335.5(SCN5A):c.3517C>T (p.Arg1173Trp)
|
rs367906630
|
0.00003
|
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln)
|
rs199473211
|
0.00003
|
NM_000368.5(TSC1):c.1922C>A (p.Pro641His)
|
rs397514863
|
0.00003
|
NM_000368.5(TSC1):c.850C>T (p.Arg284Cys)
|
rs140544652
|
0.00003
|
NM_000368.5(TSC1):c.941C>T (p.Thr314Met)
|
rs373454700
|
0.00003
|
NM_000384.3(APOB):c.11108G>A (p.Arg3703His)
|
rs1414976234
|
0.00003
|
NM_000384.3(APOB):c.12765C>T (p.Phe4255=)
|
rs746160756
|
0.00003
|
NM_000384.3(APOB):c.13566C>T (p.Asp4522=)
|
rs371437581
|
0.00003
|
NM_000384.3(APOB):c.5991T>A (p.Asp1997Glu)
|
rs768045701
|
0.00003
|
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His)
|
rs201009485
|
0.00003
|
NM_000455.5(STK11):c.1100C>T (p.Thr367Met)
|
rs587782835
|
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.1193C>T (p.Ala398Val)
|
rs768058962
|
0.00003
|
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln)
|
rs587782364
|
0.00003
|
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)
|
rs587781515
|
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.1724G>A (p.Ser575Asn)
|
rs774352844
|
0.00003
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
NM_000492.4(CFTR):c.53+4A>T
|
rs372610364
|
0.00003
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)
|
rs146848345
|
0.00003
|
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser)
|
rs758018736
|
0.00003
|
NM_000535.7(PMS2):c.1901A>G (p.His634Arg)
|
rs767904893
|
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_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_000548.5(TSC2):c.1627C>T (p.Pro543Ser)
|
rs1060500944
|
0.00003
|
NM_000548.5(TSC2):c.1753C>T (p.Arg585Cys)
|
rs370324876
|
0.00003
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)
|
rs45517249
|
0.00003
|
NM_000548.5(TSC2):c.4901G>A (p.Arg1634His)
|
rs201694466
|
0.00003
|
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile)
|
rs45490993
|
0.00003
|
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys)
|
rs375075952
|
0.00003
|
NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu)
|
rs200004126
|
0.00003
|
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)
|
rs561874453
|
0.00003
|
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp)
|
rs760888275
|
0.00003
|
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn)
|
rs771549676
|
0.00003
|
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=)
|
rs754527651
|
0.00003
|
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=)
|
rs530924728
|
0.00003
|
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met)
|
rs186015395
|
0.00003
|
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)
|
rs200060245
|
0.00003
|
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)
|
rs190012697
|
0.00003
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser)
|
rs397516395
|
0.00003
|
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)
|
rs763374929
|
0.00003
|
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)
|
rs772125105
|
0.00003
|
NM_001042492.3(NF1):c.1308G>A (p.Ser436=)
|
rs765425127
|
0.00003
|
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)
|
rs200302954
|
0.00003
|
NM_001042492.3(NF1):c.2821A>G (p.Ile941Val)
|
rs876659888
|
0.00003
|
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)
|
rs146641724
|
0.00003
|
NM_001042492.3(NF1):c.4185G>T (p.Gln1395His)
|
rs775206746
|
0.00003
|
NM_001042492.3(NF1):c.4835+5G>C
|
rs786201306
|
0.00003
|
NM_001042492.3(NF1):c.4942A>G (p.Thr1648Ala)
|
rs770558820
|
0.00003
|
NM_001042492.3(NF1):c.6642+4T>C
|
rs587781687
|
0.00003
|
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)
|
rs560262404
|
0.00003
|
NM_001042492.3(NF1):c.8216T>C (p.Ile2739Thr)
|
rs752541243
|
0.00003
|
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln)
|
rs369410616
|
0.00003
|
NM_001048174.2(MUTYH):c.184G>A (p.Val62Ile)
|
rs375526246
|
0.00003
|
NM_001079802.2(FKTN):c.393G>A (p.Glu131=)
|
rs1472560195
|
0.00003
|
NM_001079802.2(FKTN):c.402A>T (p.Gly134=)
|
rs780921233
|
0.00003
|
NM_001103.4(ACTN2):c.-3G>T
|
rs201920417
|
0.00003
|
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)
|
rs369747752
|
0.00003
|
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg)
|
rs543478618
|
0.00003
|
NM_001134363.3(RBM20):c.563A>G (p.Asn188Ser)
|
rs1041725339
|
0.00003
|
NM_001148.6(ANK2):c.11594A>G (p.Asp3865Gly)
|
rs140606121
|
0.00003
|
NM_001148.6(ANK2):c.4912A>G (p.Asn1638Asp)
|
rs748573794
|
0.00003
|
NM_001148.6(ANK2):c.6205C>T (p.Arg2069Cys)
|
rs754572911
|
0.00003
|
NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys)
|
rs753351853
|
0.00003
|
NM_001148.6(ANK2):c.8417T>C (p.Val2806Ala)
|
rs769091762
|
0.00003
|
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=)
|
rs755385158
|
0.00003
|
NM_001159699.2(FHL1):c.816C>T (p.Ser272=)
|
rs758552293
|
0.00003
|
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His)
|
rs754727069
|
0.00003
|
NM_001267550.2(TTN):c.100116C>T (p.Phe33372=)
|
rs770089807
|
0.00003
|
NM_001267550.2(TTN):c.104812C>T (p.Leu34938=)
|
rs755726554
|
0.00003
|
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=)
|
rs752897450
|
0.00003
|
NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu)
|
rs560557634
|
0.00003
|
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)
|
rs766440492
|
0.00003
|
NM_001267550.2(TTN):c.12564C>A (p.Ala4188=)
|
rs547338168
|
0.00003
|
NM_001267550.2(TTN):c.3670T>C (p.Leu1224=)
|
rs764873258
|
0.00003
|
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=)
|
rs749356221
|
0.00003
|
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=)
|
rs756282138
|
0.00003
|
NM_001267550.2(TTN):c.44223G>A (p.Thr14741=)
|
rs368830196
|
0.00003
|
NM_001267550.2(TTN):c.44349C>T (p.Phe14783=)
|
rs367744803
|
0.00003
|
NM_001267550.2(TTN):c.44916T>A (p.Val14972=)
|
rs373390402
|
0.00003
|
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=)
|
rs1455525236
|
0.00003
|
NM_001267550.2(TTN):c.46221C>T (p.Asp15407=)
|
rs370808856
|
0.00003
|
NM_001267550.2(TTN):c.4650G>A (p.Val1550=)
|
rs915170239
|
0.00003
|
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr)
|
rs764388462
|
0.00003
|
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)
|
rs727503622
|
0.00003
|
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=)
|
rs749308557
|
0.00003
|
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=)
|
rs727505248
|
0.00003
|
NM_001267550.2(TTN):c.51961C>T (p.Arg17321Cys)
|
rs752764827
|
0.00003
|
NM_001267550.2(TTN):c.52052T>C (p.Val17351Ala)
|
rs565423253
|
0.00003
|
NM_001267550.2(TTN):c.52242C>T (p.Pro17414=)
|
rs765216874
|
0.00003
|
NM_001267550.2(TTN):c.53943A>T (p.Gly17981=)
|
rs367580862
|
0.00003
|
NM_001267550.2(TTN):c.54054G>A (p.Lys18018=)
|
rs761146363
|
0.00003
|
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)
|
rs553313488
|
0.00003
|
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val)
|
rs374203813
|
0.00003
|
NM_001267550.2(TTN):c.57777G>A (p.Ala19259=)
|
rs376930907
|
0.00003
|
NM_001267550.2(TTN):c.58613C>A (p.Thr19538Lys)
|
rs370686112
|
0.00003
|
NM_001267550.2(TTN):c.60954G>A (p.Val20318=)
|
rs748022439
|
0.00003
|
NM_001267550.2(TTN):c.62901T>C (p.Pro20967=)
|
rs1245531460
|
0.00003
|
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)
|
rs794729474
|
0.00003
|
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)
|
rs145649088
|
0.00003
|
NM_001267550.2(TTN):c.6971C>T (p.Thr2324Met)
|
rs760633130
|
0.00003
|
NM_001267550.2(TTN):c.70044C>T (p.Ala23348=)
|
rs771534964
|
0.00003
|
NM_001267550.2(TTN):c.71981C>T (p.Ala23994Val)
|
rs772886864
|
0.00003
|
NM_001267550.2(TTN):c.78993A>G (p.Arg26331=)
|
rs745659756
|
0.00003
|
NM_001267550.2(TTN):c.7975C>G (p.Leu2659Val)
|
rs747894424
|
0.00003
|
NM_001267550.2(TTN):c.85389C>T (p.Leu28463=)
|
rs144731702
|
0.00003
|
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr)
|
rs374022393
|
0.00003
|
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys)
|
rs886039083
|
0.00003
|
NM_001267550.2(TTN):c.89295T>C (p.Ala29765=)
|
rs375374658
|
0.00003
|
NM_001267550.2(TTN):c.89313C>T (p.Val29771=)
|
rs746897918
|
0.00003
|
NM_001267550.2(TTN):c.90180C>T (p.Ser30060=)
|
rs1171957663
|
0.00003
|
NM_001267550.2(TTN):c.90198T>G (p.Val30066=)
|
rs761842174
|
0.00003
|
NM_001267550.2(TTN):c.92895C>T (p.Asn30965=)
|
rs1379558944
|
0.00003
|
NM_001267550.2(TTN):c.93182G>A (p.Arg31061His)
|
rs727504923
|
0.00003
|
NM_001267550.2(TTN):c.96708A>G (p.Gly32236=)
|
rs752066259
|
0.00003
|
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=)
|
rs771385738
|
0.00003
|
NM_001267550.2(TTN):c.9701A>G (p.Asn3234Ser)
|
rs397517791
|
0.00003
|
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)
|
rs371645048
|
0.00003
|
NM_001267550.2(TTN):c.98098+3G>A
|
rs556524594
|
0.00003
|
NM_001267550.2(TTN):c.98252T>C (p.Ile32751Thr)
|
rs746586029
|
0.00003
|
NM_001267550.2(TTN):c.99840T>C (p.Asp33280=)
|
rs375178211
|
0.00003
|
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=)
|
rs201481698
|
0.00003
|
NM_001365276.2(TNXB):c.8301C>T (p.Thr2767=)
|
rs760906844
|
0.00003
|
NM_001365536.1(SCN9A):c.829C>A (p.Arg277=)
|
rs121908916
|
0.00003
|
NM_001367624.2(ZNF469):c.1508G>A (p.Arg503Gln)
|
rs550263442
|
0.00003
|
NM_001367624.2(ZNF469):c.2123C>T (p.Ala708Val)
|
rs1327795344
|
0.00003
|
NM_001367624.2(ZNF469):c.3550G>A (p.Ala1184Thr)
|
rs553460850
|
0.00003
|
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met)
|
rs200894344
|
0.00003
|
NM_001378454.1(ALMS1):c.3432C>T (p.Tyr1144=)
|
rs768929630
|
0.00003
|
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)
|
rs553507775
|
0.00003
|
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=)
|
rs1247179970
|
0.00003
|
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)
|
rs199637120
|
0.00003
|
NM_001458.5(FLNC):c.2130C>T (p.Asp710=)
|
rs778781499
|
0.00003
|
NM_001458.5(FLNC):c.6471C>T (p.Asn2157=)
|
rs764877771
|
0.00003
|
NM_001711.6(BGN):c.793A>G (p.Ile265Val)
|
rs188309404
|
0.00003
|
NM_001927.4(DES):c.229A>G (p.Thr77Ala)
|
rs769034192
|
0.00003
|
NM_001943.5(DSG2):c.2162A>G (p.His721Arg)
|
rs756912703
|
0.00003
|
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)
|
rs727502985
|
0.00003
|
NM_001943.5(DSG2):c.84C>G (p.Val28=)
|
rs397516711
|
0.00003
|
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe)
|
rs369755953
|
0.00003
|
NM_002230.4(JUP):c.2189G>A (p.Ser730Asn)
|
rs782261124
|
0.00003
|
NM_002230.4(JUP):c.509C>T (p.Ser170Leu)
|
rs782284038
|
0.00003
|
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala)
|
rs138374063
|
0.00003
|
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val)
|
rs1362738445
|
0.00003
|
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)
|
rs727503236
|
0.00003
|
NM_002528.7(NTHL1):c.169C>T (p.Arg57Cys)
|
rs767591879
|
0.00003
|
NM_002528.7(NTHL1):c.446G>A (p.Arg149Gln)
|
rs150437839
|
0.00003
|
NM_002691.4(POLD1):c.2562C>T (p.Asp854=)
|
rs746579020
|
0.00003
|
NM_002769.5(PRSS1):c.457G>A (p.Asp153Asn)
|
rs61735002
|
0.00003
|
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)
|
rs143433437
|
0.00003
|
NM_002878.4(RAD51D):c.878C>T (p.Ala293Val)
|
rs769732230
|
0.00003
|
NM_002880.4(RAF1):c.53A>G (p.Lys18Arg)
|
rs150944421
|
0.00003
|
NM_003072.5(SMARCA4):c.1286C>T (p.Ala429Val)
|
rs569715577
|
0.00003
|
NM_003072.5(SMARCA4):c.3150C>T (p.Tyr1050=)
|
rs143160246
|
0.00003
|
NM_003072.5(SMARCA4):c.4271C>T (p.Pro1424Leu)
|
rs760654888
|
0.00003
|
NM_003072.5(SMARCA4):c.4826T>C (p.Leu1609Pro)
|
rs755493468
|
0.00003
|
NM_003072.5(SMARCA4):c.727G>A (p.Gly243Ser)
|
rs545634451
|
0.00003
|
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu)
|
rs1064795842
|
0.00003
|
NM_003073.5(SMARCB1):c.750G>A (p.Thr250=)
|
rs1049144154
|
0.00003
|
NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg)
|
rs786205848
|
0.00003
|
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=)
|
rs141113059
|
0.00003
|
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)
|
rs201560560
|
0.00003
|
NM_004006.3(DMD):c.1919C>T (p.Thr640Met)
|
rs183677010
|
0.00003
|
NM_004006.3(DMD):c.3814T>C (p.Leu1272=)
|
rs746405191
|
0.00003
|
NM_004006.3(DMD):c.5530C>A (p.Arg1844=)
|
rs1064325
|
0.00003
|
NM_004006.3(DMD):c.7449C>T (p.Thr2483=)
|
rs766075840
|
0.00003
|
NM_004006.3(DMD):c.8218-5T>C
|
rs183643245
|
0.00003
|
NM_004006.3(DMD):c.8520A>G (p.Ala2840=)
|
rs767304792
|
0.00003
|
NM_004006.3(DMD):c.8643A>G (p.Leu2881=)
|
rs747605156
|
0.00003
|
NM_004006.3(DMD):c.8958G>A (p.Ala2986=)
|
rs755815057
|
0.00003
|
NM_004304.5(ALK):c.4425C>T (p.His1475=)
|
rs139039449
|
0.00003
|
NM_004304.5(ALK):c.595G>T (p.Gly199Cys)
|
rs747517546
|
0.00003
|
NM_004304.5(ALK):c.615C>G (p.Ser205=)
|
rs567498111
|
0.00003
|
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met)
|
rs201345248
|
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.160A>G (p.Arg54Gly)
|
rs587781329
|
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.833-3C>T
|
rs587782839
|
0.00003
|
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
|
rs755492444
|
0.00003
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
NM_004655.4(AXIN2):c.1635G>A (p.Gly545=)
|
rs778710067
|
0.00003
|
NM_004656.4(BAP1):c.1219G>A (p.Asp407Asn)
|
rs765347562
|
0.00003
|
NM_004656.4(BAP1):c.1291G>A (p.Gly431Ser)
|
rs915913191
|
0.00003
|
NM_004656.4(BAP1):c.1339G>A (p.Val447Ile)
|
rs762654322
|
0.00003
|
NM_005476.7(GNE):c.1907C>T (p.Ala636Val)
|
rs756488394
|
0.00003
|
NM_005591.4(MRE11):c.305G>T (p.Gly102Val)
|
rs199736271
|
0.00003
|
NM_005591.4(MRE11):c.534A>G (p.Leu178=)
|
rs374635285
|
0.00003
|
NM_005751.5(AKAP9):c.1685A>G (p.His562Arg)
|
rs145033147
|
0.00003
|
NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln)
|
rs199986608
|
0.00003
|
NM_006206.6(PDGFRA):c.1891C>T (p.Pro631Ser)
|
rs199902153
|
0.00003
|
NM_006514.4(SCN10A):c.2026G>A (p.Val676Met)
|
rs576503650
|
0.00003
|
NM_006514.4(SCN10A):c.232C>T (p.Pro78Ser)
|
rs753292241
|
0.00003
|
NM_006514.4(SCN10A):c.3394A>C (p.Lys1132Gln)
|
rs756848600
|
0.00003
|
NM_006514.4(SCN10A):c.4878G>A (p.Met1626Ile)
|
rs371337228
|
0.00003
|
NM_006514.4(SCN10A):c.5144A>C (p.Asn1715Thr)
|
rs777258179
|
0.00003
|
NM_006514.4(SCN10A):c.5365G>A (p.Asp1789Asn)
|
rs375735101
|
0.00003
|
NM_006514.4(SCN10A):c.5694del (p.Ala1899fs)
|
rs747321219
|
0.00003
|
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala)
|
rs181190579
|
0.00003
|
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
NM_007272.3(CTRC):c.174G>A (p.Thr58=)
|
rs746721892
|
0.00003
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
0.00003
|
NM_007294.4(BRCA1):c.2500G>C (p.Gly834Arg)
|
rs786202215
|
0.00003
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)
|
rs80357079
|
0.00003
|
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro)
|
rs201677978
|
0.00003
|
NM_015512.5(DNAH1):c.7978G>A (p.Val2660Ile)
|
rs768620121
|
0.00003
|
NM_015910.7(WDPCP):c.691A>G (p.Ile231Val)
|
rs769180655
|
0.00003
|
NM_017636.4(TRPM4):c.3450C>T (p.Arg1150=)
|
rs763372824
|
0.00003
|
NM_018699.4(PRDM5):c.1741G>A (p.Ala581Thr)
|
rs759782529
|
0.00003
|
NM_018699.4(PRDM5):c.182G>A (p.Arg61His)
|
rs777432357
|
0.00003
|
NM_018979.4(WNK1):c.3935G>A (p.Arg1312His)
|
rs375565845
|
0.00003
|
NM_020778.5(ALPK3):c.1715C>T (p.Ala572Val)
|
rs373204179
|
0.00003
|
NM_020778.5(ALPK3):c.2482G>A (p.Glu828Lys)
|
rs200846317
|
0.00003
|
NM_020778.5(ALPK3):c.3940C>T (p.Arg1314Cys)
|
rs147819987
|
0.00003
|
NM_020778.5(ALPK3):c.3941G>A (p.Arg1314His)
|
rs746125587
|
0.00003
|
NM_020975.6(RET):c.2452G>A (p.Glu818Lys)
|
rs377767420
|
0.00003
|
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)
|
rs200956659
|
0.00003
|
NM_022168.4(IFIH1):c.2305-2A>G
|
rs199696786
|
0.00003
|
NM_022436.3(ABCG5):c.408C>T (p.Asp136=)
|
rs141386201
|
0.00003
|
NM_022436.3(ABCG5):c.834G>A (p.Ala278=)
|
rs373182673
|
0.00003
|
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=)
|
rs371968769
|
0.00003
|
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln)
|
rs372129830
|
0.00003
|
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg)
|
rs747569209
|
0.00003
|
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)
|
rs139842014
|
0.00003
|
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
|
rs368299411
|
0.00003
|
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)
|
rs535014010
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr)
|
rs374736398
|
0.00003
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
NM_024675.4(PALB2):c.3464C>G (p.Ser1155Cys)
|
rs755609496
|
0.00003
|
NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)
|
rs148429663
|
0.00003
|
NM_032043.3(BRIP1):c.1736G>A (p.Arg579His)
|
rs768224857
|
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.2590G>A (p.Val864Ile)
|
rs149529390
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
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_053025.4(MYLK):c.1509A>G (p.Gln503=)
|
rs948829374
|
0.00003
|
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg)
|
rs376403182
|
0.00003
|
NM_144997.7(FLCN):c.779+5C>T
|
rs745645385
|
0.00003
|
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)
|
rs762130433
|
0.00003
|
NM_170707.4(LMNA):c.78C>T (p.Ile26=)
|
rs373721390
|
0.00003
|
NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg)
|
rs750329453
|
0.00003
|
NM_177438.3(DICER1):c.1795A>G (p.Thr599Ala)
|
rs766492523
|
0.00003
|
NM_177438.3(DICER1):c.3479C>A (p.Ser1160Tyr)
|
rs774583162
|
0.00003
|
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)
|
rs145365553
|
0.00003
|
NM_181486.4(TBX5):c.828C>T (p.Ser276=)
|
rs146908258
|
0.00003
|
NM_198253.3(TERT):c.2145C>T (p.Gly715=)
|
rs769467251
|
0.00003
|
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=)
|
rs759883263
|
0.00003
|
NM_000038.6(APC):c.1264G>A (p.Glu422Lys)
|
rs755069015
|
0.00002
|
NM_000038.6(APC):c.1589T>C (p.Val530Ala)
|
rs202199891
|
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.2444A>C (p.Asn815Thr)
|
rs762990578
|
0.00002
|
NM_000038.6(APC):c.2764C>T (p.Leu922Phe)
|
rs150543576
|
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.4343C>T (p.Thr1448Ile)
|
rs907886109
|
0.00002
|
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)
|
rs749142480
|
0.00002
|
NM_000038.6(APC):c.4913T>C (p.Met1638Thr)
|
rs201797422
|
0.00002
|
NM_000038.6(APC):c.5060G>A (p.Arg1687Gln)
|
rs779068685
|
0.00002
|
NM_000038.6(APC):c.5225G>A (p.Arg1742His)
|
rs199775075
|
0.00002
|
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu)
|
rs551183536
|
0.00002
|
NM_000038.6(APC):c.5524T>A (p.Ser1842Thr)
|
rs754648125
|
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.6512G>A (p.Gly2171Glu)
|
rs748745776
|
0.00002
|
NM_000038.6(APC):c.6539A>G (p.Lys2180Arg)
|
rs762955111
|
0.00002
|
NM_000038.6(APC):c.6623A>C (p.Glu2208Ala)
|
rs777612081
|
0.00002
|
NM_000038.6(APC):c.689G>A (p.Arg230His)
|
rs587780545
|
0.00002
|
NM_000038.6(APC):c.6952A>G (p.Ser2318Gly)
|
rs747056590
|
0.00002
|
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)
|
rs377308875
|
0.00002
|
NM_000038.6(APC):c.7172T>G (p.Ile2391Ser)
|
rs747797803
|
0.00002
|
NM_000038.6(APC):c.7391C>A (p.Ser2464Tyr)
|
rs766473931
|
0.00002
|
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys)
|
rs587783036
|
0.00002
|
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)
|
rs767286063
|
0.00002
|
NM_000038.6(APC):c.8162G>A (p.Arg2721His)
|
rs587780606
|
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_000038.6(APC):c.8480G>A (p.Gly2827Glu)
|
rs571511652
|
0.00002
|
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)
|
rs587781841
|
0.00002
|
NM_000051.4(ATM):c.2262A>G (p.Gln754=)
|
rs778320952
|
0.00002
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
NM_000051.4(ATM):c.7358G>A (p.Arg2453His)
|
rs587781361
|
0.00002
|
NM_000051.4(ATM):c.7630-3C>T
|
rs587782448
|
0.00002
|
NM_000051.4(ATM):c.8944C>T (p.Pro2982Ser)
|
rs1485620194
|
0.00002
|
NM_000051.4(ATM):c.9045G>A (p.Glu3015=)
|
rs786203336
|
0.00002
|
NM_000051.4(ATM):c.95G>A (p.Arg32His)
|
rs368161489
|
0.00002
|
NM_000057.4(BLM):c.395G>A (p.Arg132Gln)
|
rs775197136
|
0.00002
|
NM_000057.4(BLM):c.918A>G (p.Glu306=)
|
rs760806762
|
0.00002
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala)
|
rs750341436
|
0.00002
|
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys)
|
rs397507603
|
0.00002
|
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser)
|
rs373400041
|
0.00002
|
NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu)
|
rs587782737
|
0.00002
|
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys)
|
rs183920365
|
0.00002
|
NM_000059.4(BRCA2):c.3494A>G (p.His1165Arg)
|
rs587782201
|
0.00002
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
rs398122776
|
0.00002
|
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu)
|
rs80358708
|
0.00002
|
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala)
|
rs80358742
|
0.00002
|
NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr)
|
rs397507350
|
0.00002
|
NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro)
|
rs80358811
|
0.00002
|
NM_000059.4(BRCA2):c.5893C>T (p.Leu1965Phe)
|
rs398122542
|
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.6550C>G (p.Gln2184Glu)
|
rs80358887
|
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.7643A>G (p.His2548Arg)
|
rs80358992
|
0.00002
|
NM_000059.4(BRCA2):c.7822C>G (p.Pro2608Ala)
|
rs879255308
|
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.8111C>T (p.Ser2704Phe)
|
rs80359054
|
0.00002
|
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)
|
rs80359128
|
0.00002
|
NM_000059.4(BRCA2):c.8714A>G (p.Tyr2905Cys)
|
rs431825368
|
0.00002
|
NM_000059.4(BRCA2):c.8737G>C (p.Asp2913His)
|
rs144322424
|
0.00002
|
NM_000059.4(BRCA2):c.8739C>G (p.Asp2913Glu)
|
rs786201996
|
0.00002
|
NM_000059.4(BRCA2):c.9098C>T (p.Thr3033Ile)
|
rs431825374
|
0.00002
|
NM_000059.4(BRCA2):c.9383G>A (p.Arg3128Gln)
|
rs397507427
|
0.00002
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
NM_000059.4(BRCA2):c.9838C>T (p.Pro3280Ser)
|
rs55835607
|
0.00002
|
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)
|
rs76635144
|
0.00002
|
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys)
|
rs587778188
|
0.00002
|
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser)
|
rs771671892
|
0.00002
|
NM_000090.4(COL3A1):c.599A>C (p.Gln200Pro)
|
rs780921226
|
0.00002
|
NM_000117.3(EMD):c.662G>T (p.Arg221Leu)
|
rs782057378
|
0.00002
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000179.3(MSH6):c.2857G>A (p.Glu953Lys)
|
rs753034685
|
0.00002
|
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
|
rs186240214
|
0.00002
|
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)
|
rs587782109
|
0.00002
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
NM_000214.3(JAG1):c.2739C>T (p.Ser913=)
|
rs766479402
|
0.00002
|
NM_000218.3(KCNQ1):c.1128+5G>A
|
rs76735093
|
0.00002
|
NM_000235.4(LIPA):c.1077G>A (p.Gln359=)
|
rs538507117
|
0.00002
|
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=)
|
rs41307292
|
0.00002
|
NM_000238.4(KCNH2):c.2759G>A (p.Arg920Gln)
|
rs199473670
|
0.00002
|
NM_000238.4(KCNH2):c.2887C>A (p.Pro963Thr)
|
rs199473014
|
0.00002
|
NM_000245.4(MET):c.1234C>T (p.Arg412Cys)
|
rs367628460
|
0.00002
|
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln)
|
rs752694306
|
0.00002
|
NM_000249.4(MLH1):c.1577A>G (p.His526Arg)
|
rs1304802474
|
0.00002
|
NM_000249.4(MLH1):c.1872C>T (p.Asp624=)
|
rs145535636
|
0.00002
|
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser)
|
rs56250509
|
0.00002
|
NM_000249.4(MLH1):c.925C>T (p.Pro309Ser)
|
rs267607808
|
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.1182T>G (p.Phe394Leu)
|
rs374135434
|
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.2309T>C (p.Ile770Thr)
|
rs371718349
|
0.00002
|
NM_000251.3(MSH2):c.2379G>T (p.Gln793His)
|
rs767520406
|
0.00002
|
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile)
|
rs267608015
|
0.00002
|
NM_000251.3(MSH2):c.304G>A (p.Val102Ile)
|
rs193922373
|
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.80C>T (p.Pro27Leu)
|
rs750746034
|
0.00002
|
NM_000251.3(MSH2):c.855C>G (p.Asn285Lys)
|
rs759242666
|
0.00002
|
NM_000251.3(MSH2):c.938T>C (p.Phe313Ser)
|
rs780656204
|
0.00002
|
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser)
|
rs773301485
|
0.00002
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=)
|
rs727503181
|
0.00002
|
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)
|
rs397516063
|
0.00002
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
NM_000257.4(MYH7):c.154G>A (p.Val52Met)
|
rs730880919
|
0.00002
|
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe)
|
rs201012865
|
0.00002
|
NM_000257.4(MYH7):c.3637G>A (p.Val1213Met)
|
rs397516182
|
0.00002
|
NM_000257.4(MYH7):c.3803G>A (p.Arg1268His)
|
rs397516194
|
0.00002
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn)
|
rs779294007
|
0.00002
|
NM_000264.5(PTCH1):c.2105C>G (p.Pro702Arg)
|
rs368362152
|
0.00002
|
NM_000264.5(PTCH1):c.4034G>A (p.Arg1345His)
|
rs766315655
|
0.00002
|
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly)
|
rs150696398
|
0.00002
|
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn)
|
rs767601899
|
0.00002
|
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)
|
rs587781273
|
0.00002
|
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg)
|
rs374157786
|
0.00002
|
NM_000321.3(RB1):c.354T>A (p.Thr118=)
|
rs951251256
|
0.00002
|
NM_000321.3(RB1):c.761G>A (p.Arg254Lys)
|
rs200674097
|
0.00002
|
NM_000321.3(RB1):c.850A>G (p.Asn284Asp)
|
rs761609284
|
0.00002
|
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser)
|
rs899627353
|
0.00002
|
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr)
|
rs199473140
|
0.00002
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00002
|
NM_000335.5(SCN5A):c.436G>A (p.Val146Met)
|
rs199473061
|
0.00002
|
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val)
|
rs1489175329
|
0.00002
|
NM_000368.5(TSC1):c.1678G>A (p.Gly560Ser)
|
rs746304922
|
0.00002
|
NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile)
|
rs779584449
|
0.00002
|
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)
|
rs397514800
|
0.00002
|
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr)
|
rs112066743
|
0.00002
|
NM_000368.5(TSC1):c.720T>G (p.His240Gln)
|
rs779872953
|
0.00002
|
NM_000384.3(APOB):c.7727G>A (p.Arg2576His)
|
rs759057929
|
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.1229C>T (p.Ala410Val)
|
rs372329880
|
0.00002
|
NM_000455.5(STK11):c.439C>T (p.Arg147Cys)
|
rs748464757
|
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.944C>T (p.Pro315Leu)
|
rs766958608
|
0.00002
|
NM_000465.4(BARD1):c.1217G>A (p.Arg406Gln)
|
rs587780014
|
0.00002
|
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)
|
rs370771157
|
0.00002
|
NM_000465.4(BARD1):c.1678A>G (p.Met560Val)
|
rs587780020
|
0.00002
|
NM_000465.4(BARD1):c.2083G>A (p.Val695Ile)
|
rs111367604
|
0.00002
|
NM_000465.4(BARD1):c.267G>A (p.Pro89=)
|
rs756165637
|
0.00002
|
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly)
|
rs16852741
|
0.00002
|
NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)
|
rs587780037
|
0.00002
|
NM_000492.4(CFTR):c.2259C>T (p.Ser753=)
|
rs201888075
|
0.00002
|
NM_000492.4(CFTR):c.869+8G>T
|
rs773933167
|
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.433C>A (p.Gln145Lys)
|
rs786204133
|
0.00002
|
NM_000535.7(PMS2):c.598G>A (p.Val200Ile)
|
rs587778620
|
0.00002
|
NM_000535.7(PMS2):c.852A>G (p.Ser284=)
|
rs766177007
|
0.00002
|
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)
|
rs755394212
|
0.00002
|
NM_000546.6(TP53):c.464C>G (p.Thr155Ser)
|
rs786202752
|
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_000548.5(TSC2):c.1785G>A (p.Gln595=)
|
rs150352976
|
0.00002
|
NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn)
|
rs149808366
|
0.00002
|
NM_000548.5(TSC2):c.3526C>T (p.Pro1176Ser)
|
rs1326077397
|
0.00002
|
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg)
|
rs767059758
|
0.00002
|
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg)
|
rs45517338
|
0.00002
|
NM_000548.5(TSC2):c.4461C>T (p.Ser1487=)
|
rs777104003
|
0.00002
|
NM_000548.5(TSC2):c.4527C>G (p.Phe1509Leu)
|
rs775919951
|
0.00002
|
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His)
|
rs373365980
|
0.00002
|
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val)
|
rs201049603
|
0.00002
|
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys)
|
rs775251529
|
0.00002
|
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=)
|
rs527741368
|
0.00002
|
NM_000784.4(CYP27A1):c.315C>T (p.His105=)
|
rs753981913
|
0.00002
|
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val)
|
rs369703183
|
0.00002
|
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly)
|
rs765412618
|
0.00002
|
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala)
|
rs565413020
|
0.00002
|
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)
|
rs758904216
|
0.00002
|
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)
|
rs398123540
|
0.00002
|
NM_001035.3(RYR2):c.6726G>A (p.Val2242=)
|
rs767246962
|
0.00002
|
NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly)
|
rs550691734
|
0.00002
|
NM_001037.5(SCN1B):c.367G>A (p.Val123Ile)
|
rs754215948
|
0.00002
|
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp)
|
rs766748586
|
0.00002
|
NM_001042492.3(NF1):c.1701A>G (p.Val567=)
|
rs786203819
|
0.00002
|
NM_001042492.3(NF1):c.1955G>A (p.Arg652His)
|
rs587778549
|
0.00002
|
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg)
|
rs779546178
|
0.00002
|
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)
|
rs902739109
|
0.00002
|
NM_001042492.3(NF1):c.3765A>G (p.Gln1255=)
|
rs766896025
|
0.00002
|
NM_001042492.3(NF1):c.4110+4T>C
|
rs587781700
|
0.00002
|
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)
|
rs199703296
|
0.00002
|
NM_001042492.3(NF1):c.5426C>T (p.Pro1809Leu)
|
rs587782220
|
0.00002
|
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser)
|
rs763082717
|
0.00002
|
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe)
|
rs757245615
|
0.00002
|
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)
|
rs200572531
|
0.00002
|
NM_001042492.3(NF1):c.8494C>T (p.Arg2832Cys)
|
rs587782893
|
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.877G>A (p.Gly293Arg)
|
rs765686051
|
0.00002
|
NM_001079802.2(FKTN):c.342A>G (p.Ala114=)
|
rs368598407
|
0.00002
|
NM_001079802.2(FKTN):c.63G>C (p.Leu21=)
|
rs766642997
|
0.00002
|
NM_001103.4(ACTN2):c.2496C>T (p.Ile832=)
|
rs189019392
|
0.00002
|
NM_001105206.3(LAMA4):c.3559G>A (p.Ala1187Thr)
|
rs781943786
|
0.00002
|
NM_001110556.2(FLNA):c.1314C>T (p.Gly438=)
|
rs372113435
|
0.00002
|
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)
|
rs587783139
|
0.00002
|
NM_001114753.3(ENG):c.1572C>T (p.Pro524=)
|
rs760682477
|
0.00002
|
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr)
|
rs560905645
|
0.00002
|
NM_001134363.3(RBM20):c.2764G>A (p.Val922Met)
|
rs947100716
|
0.00002
|
NM_001148.6(ANK2):c.10118C>T (p.Ala3373Val)
|
rs371358639
|
0.00002
|
NM_001148.6(ANK2):c.11182G>A (p.Val3728Ile)
|
rs773907372
|
0.00002
|
NM_001148.6(ANK2):c.3067G>A (p.Gly1023Arg)
|
rs151127289
|
0.00002
|
NM_001148.6(ANK2):c.8182G>A (p.Glu2728Lys)
|
rs756424757
|
0.00002
|
NM_001148.6(ANK2):c.8927C>G (p.Ser2976Cys)
|
rs371343942
|
0.00002
|
NM_001148.6(ANK2):c.9703C>T (p.Pro3235Ser)
|
rs202098889
|
0.00002
|
NM_001148.6(ANK2):c.9842A>G (p.Gln3281Arg)
|
rs1306812632
|
0.00002
|
NM_001159699.2(FHL1):c.447G>A (p.Lys149=)
|
rs768142579
|
0.00002
|
NM_001267550.2(TTN):c.101622C>T (p.Asn33874=)
|
rs780835388
|
0.00002
|
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=)
|
rs727504677
|
0.00002
|
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp)
|
rs367926247
|
0.00002
|
NM_001267550.2(TTN):c.103302T>C (p.Tyr34434=)
|
rs773408387
|
0.00002
|
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln)
|
rs770742837
|
0.00002
|
NM_001267550.2(TTN):c.105261G>A (p.Thr35087=)
|
rs556741970
|
0.00002
|
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=)
|
rs201395913
|
0.00002
|
NM_001267550.2(TTN):c.2301A>G (p.Arg767=)
|
rs746831560
|
0.00002
|
NM_001267550.2(TTN):c.40989T>C (p.Ser13663=)
|
rs369178648
|
0.00002
|
NM_001267550.2(TTN):c.42687C>T (p.Ala14229=)
|
rs775889693
|
0.00002
|
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=)
|
rs148528251
|
0.00002
|
NM_001267550.2(TTN):c.43326A>G (p.Lys14442=)
|
rs878977270
|
0.00002
|
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr)
|
rs377564388
|
0.00002
|
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys)
|
rs779336886
|
0.00002
|
NM_001267550.2(TTN):c.49701A>G (p.Ser16567=)
|
rs369646977
|
0.00002
|
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)
|
rs727503693
|
0.00002
|
NM_001267550.2(TTN):c.574C>T (p.Leu192=)
|
rs767983460
|
0.00002
|
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)
|
rs727505101
|
0.00002
|
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=)
|
rs397517657
|
0.00002
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala)
|
rs397517693
|
0.00002
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
NM_001267550.2(TTN):c.66372C>T (p.Thr22124=)
|
rs756981729
|
0.00002
|
NM_001267550.2(TTN):c.67146C>T (p.Gly22382=)
|
rs770418172
|
0.00002
|
NM_001267550.2(TTN):c.68632G>A (p.Val22878Met)
|
rs764263517
|
0.00002
|
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=)
|
rs72646887
|
0.00002
|
NM_001267550.2(TTN):c.732C>T (p.Ala244=)
|
rs761859812
|
0.00002
|
NM_001267550.2(TTN):c.73426G>A (p.Glu24476Lys)
|
rs760487688
|
0.00002
|
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)
|
rs565784637
|
0.00002
|
NM_001267550.2(TTN):c.74413G>A (p.Val24805Ile)
|
rs371306826
|
0.00002
|
NM_001267550.2(TTN):c.74564C>T (p.Thr24855Ile)
|
rs759432194
|
0.00002
|
NM_001267550.2(TTN):c.7524T>C (p.His2508=)
|
rs2291307
|
0.00002
|
NM_001267550.2(TTN):c.76482C>T (p.Asp25494=)
|
rs370908118
|
0.00002
|
NM_001267550.2(TTN):c.79545C>T (p.Gly26515=)
|
rs761713195
|
0.00002
|
NM_001267550.2(TTN):c.79865C>T (p.Pro26622Leu)
|
rs532706350
|
0.00002
|
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)
|
rs749852593
|
0.00002
|
NM_001267550.2(TTN):c.85421G>A (p.Arg28474His)
|
rs754356257
|
0.00002
|
NM_001267550.2(TTN):c.87263C>T (p.Thr29088Ile)
|
rs565333965
|
0.00002
|
NM_001276345.2(TNNT2):c.391G>A (p.Val131Ile)
|
rs537067344
|
0.00002
|
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=)
|
rs201475447
|
0.00002
|
NM_001365276.2(TNXB):c.3637G>A (p.Val1213Ile)
|
rs774582576
|
0.00002
|
NM_001365276.2(TNXB):c.9080A>G (p.Gln3027Arg)
|
rs767216957
|
0.00002
|
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)
|
rs200185692
|
0.00002
|
NM_001367624.2(ZNF469):c.10543G>A (p.Val3515Met)
|
rs535466651
|
0.00002
|
NM_001367624.2(ZNF469):c.3030C>G (p.Pro1010=)
|
rs1245818626
|
0.00002
|
NM_001367624.2(ZNF469):c.5564A>G (p.Asn1855Ser)
|
rs1196406851
|
0.00002
|
NM_001367624.2(ZNF469):c.61C>T (p.Arg21Cys)
|
rs754101639
|
0.00002
|
NM_001367624.2(ZNF469):c.6481G>A (p.Gly2161Ser)
|
rs944778197
|
0.00002
|
NM_001367624.2(ZNF469):c.664G>A (p.Gly222Ser)
|
rs975247998
|
0.00002
|
NM_001367624.2(ZNF469):c.8260G>A (p.Gly2754Arg)
|
rs568379728
|
0.00002
|
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln)
|
rs142373364
|
0.00002
|
NM_001369.3(DNAH5):c.378A>G (p.Val126=)
|
rs377275027
|
0.00002
|
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp)
|
rs535366955
|
0.00002
|
NM_001370466.1(NOD2):c.1340A>G (p.Gln447Arg)
|
rs367819045
|
0.00002
|
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=)
|
rs746166271
|
0.00002
|
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=)
|
rs775482774
|
0.00002
|
NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His)
|
rs755542969
|
0.00002
|
NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=)
|
rs1278648561
|
0.00002
|
NM_001458.5(FLNC):c.3243G>A (p.Ala1081=)
|
rs534482249
|
0.00002
|
NM_001458.5(FLNC):c.3812C>G (p.Thr1271Ser)
|
rs778997084
|
0.00002
|
NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser)
|
rs150986092
|
0.00002
|
NM_001458.5(FLNC):c.8070G>T (p.Arg2690=)
|
rs373087529
|
0.00002
|
NM_001927.4(DES):c.708C>T (p.Ile236=)
|
rs886044078
|
0.00002
|
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val)
|
rs547406532
|
0.00002
|
NM_001943.5(DSG2):c.86T>C (p.Leu29Ser)
|
rs786205361
|
0.00002
|
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe)
|
rs142213474
|
0.00002
|
NM_002230.4(JUP):c.1784C>T (p.Ser595Leu)
|
rs782130740
|
0.00002
|
NM_002230.4(JUP):c.682A>G (p.Ile228Val)
|
rs374566089
|
0.00002
|
NM_002471.4(MYH6):c.2189T>C (p.Val730Ala)
|
rs763963623
|
0.00002
|
NM_002471.4(MYH6):c.2217T>C (p.Asp739=)
|
rs374177807
|
0.00002
|
NM_002471.4(MYH6):c.3468C>T (p.Gly1156=)
|
rs545420992
|
0.00002
|
NM_002474.3(MYH11):c.5823G>A (p.Arg1941=)
|
rs764375446
|
0.00002
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)
|
rs730881856
|
0.00002
|
NM_002485.5(NBN):c.254A>G (p.Asn85Ser)
|
rs587780095
|
0.00002
|
NM_002485.5(NBN):c.949A>G (p.Met317Val)
|
rs587782502
|
0.00002
|
NM_002691.4(POLD1):c.1055G>A (p.Arg352His)
|
rs556862476
|
0.00002
|
NM_002691.4(POLD1):c.1597G>A (p.Val533Met)
|
rs758602573
|
0.00002
|
NM_002691.4(POLD1):c.99A>G (p.Gln33=)
|
rs751090809
|
0.00002
|
NM_002878.4(RAD51D):c.346-4C>G
|
rs767328693
|
0.00002
|
NM_002878.4(RAD51D):c.739-5T>C
|
rs777400873
|
0.00002
|
NM_002880.4(RAF1):c.1113T>C (p.Asp371=)
|
rs146668293
|
0.00002
|
NM_002880.4(RAF1):c.639T>C (p.Thr213=)
|
rs397516823
|
0.00002
|
NM_003072.5(SMARCA4):c.1024A>G (p.Met342Val)
|
rs878854196
|
0.00002
|
NM_003072.5(SMARCA4):c.3324C>A (p.Leu1108=)
|
rs750792793
|
0.00002
|
NM_003072.5(SMARCA4):c.4513G>A (p.Val1505Met)
|
rs372893370
|
0.00002
|
NM_003072.5(SMARCA4):c.720G>A (p.Pro240=)
|
rs1023059961
|
0.00002
|
NM_003072.5(SMARCA4):c.859+5G>A
|
rs367781236
|
0.00002
|
NM_003072.5(SMARCA4):c.887C>T (p.Thr296Met)
|
rs781066262
|
0.00002
|
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln)
|
rs771180054
|
0.00002
|
NM_003239.5(TGFB3):c.324C>T (p.Phe108=)
|
rs779502039
|
0.00002
|
NM_004006.3(DMD):c.10677T>C (p.Ile3559=)
|
rs765950547
|
0.00002
|
NM_004006.3(DMD):c.159C>A (p.Leu53=)
|
rs762245872
|
0.00002
|
NM_004006.3(DMD):c.2967G>T (p.Leu989=)
|
rs760097427
|
0.00002
|
NM_004006.3(DMD):c.4851T>G (p.Thr1617=)
|
rs143719666
|
0.00002
|
NM_004006.3(DMD):c.5827A>G (p.Met1943Val)
|
rs181849614
|
0.00002
|
NM_004006.3(DMD):c.7602C>T (p.Ala2534=)
|
rs748309027
|
0.00002
|
NM_004304.5(ALK):c.1376A>G (p.Gln459Arg)
|
rs773380015
|
0.00002
|
NM_004304.5(ALK):c.1447G>C (p.Glu483Gln)
|
rs1453170969
|
0.00002
|
NM_004304.5(ALK):c.2239G>A (p.Gly747Arg)
|
rs762395127
|
0.00002
|
NM_004304.5(ALK):c.2979C>T (p.Asp993=)
|
rs761999849
|
0.00002
|
NM_004304.5(ALK):c.819G>T (p.Glu273Asp)
|
rs758537157
|
0.00002
|
NM_004329.3(BMPR1A):c.1300G>A (p.Gly434Ser)
|
rs587780108
|
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.731G>A (p.Arg244Gln)
|
rs147971049
|
0.00002
|
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)
|
rs373364873
|
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.1423G>A (p.Val475Met)
|
rs587782113
|
0.00002
|
NM_004360.5(CDH1):c.1610C>T (p.Pro537Leu)
|
rs730881667
|
0.00002
|
NM_004360.5(CDH1):c.1697T>C (p.Ile566Thr)
|
rs763292288
|
0.00002
|
NM_004360.5(CDH1):c.1930G>A (p.Asp644Asn)
|
rs587781696
|
0.00002
|
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
|
rs121964871
|
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.2399G>A (p.Arg800His)
|
rs370345996
|
0.00002
|
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln)
|
rs587782647
|
0.00002
|
NM_004360.5(CDH1):c.344C>T (p.Thr115Met)
|
rs370973869
|
0.00002
|
NM_004360.5(CDH1):c.4G>A (p.Gly2Ser)
|
rs786201212
|
0.00002
|
NM_004360.5(CDH1):c.531+3A>G
|
rs766563354
|
0.00002
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
NM_004415.4(DSP):c.7575C>T (p.Gly2525=)
|
rs780156504
|
0.00002
|
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)
|
rs147484870
|
0.00002
|
NM_004444.5(EPHB4):c.2704C>T (p.Arg902Trp)
|
rs200953030
|
0.00002
|
NM_004444.5(EPHB4):c.2767A>G (p.Arg923Gly)
|
rs753634998
|
0.00002
|
NM_004656.4(BAP1):c.1441C>A (p.His481Asn)
|
rs764816701
|
0.00002
|
NM_004656.4(BAP1):c.1552C>T (p.Arg518Trp)
|
rs775789477
|
0.00002
|
NM_004656.4(BAP1):c.1843A>G (p.Met615Val)
|
rs1183229867
|
0.00002
|
NM_004656.4(BAP1):c.340C>T (p.Arg114Cys)
|
rs761048859
|
0.00002
|
NM_004656.4(BAP1):c.526A>G (p.Ile176Val)
|
rs1040041070
|
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_004656.4(BAP1):c.995C>T (p.Pro332Leu)
|
rs772070350
|
0.00002
|
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)
|
rs139569694
|
0.00002
|
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr)
|
rs149099078
|
0.00002
|
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)
|
rs200856070
|
0.00002
|
NM_005477.3(HCN4):c.2370T>C (p.Ser790=)
|
rs747648596
|
0.00002
|
NM_005633.4(SOS1):c.39A>G (p.Glu13=)
|
rs763337946
|
0.00002
|
NM_005732.4(RAD50):c.1216G>A (p.Gly406Arg)
|
rs747951988
|
0.00002
|
NM_006440.5(TXNRD2):c.1152C>T (p.Gly384=)
|
rs766934707
|
0.00002
|
NM_006514.4(SCN10A):c.1397T>C (p.Val466Ala)
|
rs764168768
|
0.00002
|
NM_006514.4(SCN10A):c.3474C>G (p.Ile1158Met)
|
rs145568435
|
0.00002
|
NM_006514.4(SCN10A):c.3796G>A (p.Gly1266Ser)
|
rs199892190
|
0.00002
|
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp)
|
rs531238169
|
0.00002
|
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp)
|
rs751653049
|
0.00002
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
NM_007294.4(BRCA1):c.2783G>A (p.Gly928Asp)
|
rs202004680
|
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.5429T>C (p.Val1810Ala)
|
rs80357451
|
0.00002
|
NM_015450.3(POT1):c.747A>G (p.Gln249=)
|
rs35361862
|
0.00002
|
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)
|
rs746322193
|
0.00002
|
NM_016938.5(EFEMP2):c.368-5C>T
|
rs201248112
|
0.00002
|
NM_020778.5(ALPK3):c.186C>T (p.Ser62=)
|
rs116058119
|
0.00002
|
NM_020778.5(ALPK3):c.1916C>T (p.Thr639Met)
|
rs151054715
|
0.00002
|
NM_020778.5(ALPK3):c.2456G>A (p.Arg819Gln)
|
rs116079740
|
0.00002
|
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val)
|
rs759068569
|
0.00002
|
NM_020975.6(RET):c.1860C>T (p.Cys620=)
|
rs79890926
|
0.00002
|
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile)
|
rs777411661
|
0.00002
|
NM_022436.3(ABCG5):c.804C>T (p.Phe268=)
|
rs554183818
|
0.00002
|
NM_022437.3(ABCG8):c.1596C>T (p.Phe532=)
|
rs374820261
|
0.00002
|
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)
|
rs548098742
|
0.00002
|
NM_022489.4(INF2):c.2572G>A (p.Val858Met)
|
rs201292830
|
0.00002
|
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs)
|
rs763988639
|
0.00002
|
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln)
|
rs775926673
|
0.00002
|
NM_024301.5(FKRP):c.483C>T (p.Ala161=)
|
rs797045576
|
0.00002
|
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp)
|
rs201085402
|
0.00002
|
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu)
|
rs560482778
|
0.00002
|
NM_024422.6(DSC2):c.1456G>A (p.Val486Met)
|
rs188634770
|
0.00002
|
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp)
|
rs397517391
|
0.00002
|
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met)
|
rs180863872
|
0.00002
|
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu)
|
rs1617629
|
0.00002
|
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)
|
rs201035780
|
0.00002
|
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala)
|
rs545119348
|
0.00002
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
rs201042302
|
0.00002
|
NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=)
|
rs372760869
|
0.00002
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
NM_032043.3(BRIP1):c.2905+4T>C
|
rs373835270
|
0.00002
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00002
|
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)
|
rs376893571
|
0.00002
|
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)
|
rs138743097
|
0.00002
|
NM_033360.4(KRAS):c.249C>T (p.Ala83=)
|
rs751117590
|
0.00002
|
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)
|
rs190786280
|
0.00002
|
NM_170707.4(LMNA):c.1047G>A (p.Arg349=)
|
rs147015659
|
0.00002
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
NM_170707.4(LMNA):c.867C>T (p.His289=)
|
rs780415585
|
0.00002
|
NM_177438.3(DICER1):c.3728T>C (p.Leu1243Pro)
|
rs561584807
|
0.00002
|
NM_213599.3(ANO5):c.53A>G (p.Asn18Ser)
|
rs1010958758
|
0.00002
|
NM_213655.5(WNK1):c.2233G>A (p.Ala745Thr)
|
rs763686798
|
0.00002
|
NM_000020.3(ACVRL1):c.303G>A (p.Leu101=)
|
rs376417482
|
0.00001
|
NM_000038.6(APC):c.1096G>A (p.Asp366Asn)
|
rs199562537
|
0.00001
|
NM_000038.6(APC):c.1291A>G (p.Met431Val)
|
rs730881235
|
0.00001
|
NM_000038.6(APC):c.1342C>G (p.Pro448Ala)
|
rs374195067
|
0.00001
|
NM_000038.6(APC):c.1626+4C>A
|
rs1202435147
|
0.00001
|
NM_000038.6(APC):c.1691G>A (p.Arg564Gln)
|
rs747418061
|
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.2114G>A (p.Ser705Asn)
|
rs752874220
|
0.00001
|
NM_000038.6(APC):c.212G>A (p.Arg71His)
|
rs750503329
|
0.00001
|
NM_000038.6(APC):c.2414G>A (p.Arg805Gln)
|
rs200593940
|
0.00001
|
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)
|
rs186641437
|
0.00001
|
NM_000038.6(APC):c.251G>T (p.Gly84Val)
|
rs143145868
|
0.00001
|
NM_000038.6(APC):c.252A>G (p.Gly84=)
|
rs375051600
|
0.00001
|
NM_000038.6(APC):c.2566C>T (p.Arg856Cys)
|
rs566005215
|
0.00001
|
NM_000038.6(APC):c.2569G>A (p.Gly857Arg)
|
rs745692178
|
0.00001
|
NM_000038.6(APC):c.262C>T (p.Arg88Trp)
|
rs746592911
|
0.00001
|
NM_000038.6(APC):c.2733A>T (p.Glu911Asp)
|
rs770018276
|
0.00001
|
NM_000038.6(APC):c.275C>G (p.Ser92Cys)
|
rs769708176
|
0.00001
|
NM_000038.6(APC):c.2909G>A (p.Ser970Asn)
|
rs767473403
|
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.3377G>T (p.Ser1126Ile)
|
rs767339739
|
0.00001
|
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln)
|
rs201550951
|
0.00001
|
NM_000038.6(APC):c.3428A>G (p.Tyr1143Cys)
|
rs1419180532
|
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.362G>T (p.Arg121Ile)
|
rs193049694
|
0.00001
|
NM_000038.6(APC):c.3653C>T (p.Thr1218Met)
|
rs377640390
|
0.00001
|
NM_000038.6(APC):c.365G>T (p.Gly122Val)
|
rs755660899
|
0.00001
|
NM_000038.6(APC):c.3760A>G (p.Ile1254Val)
|
rs769504783
|
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.4143A>C (p.Pro1381=)
|
rs778565823
|
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.468C>G (p.Asp156Glu)
|
rs752627126
|
0.00001
|
NM_000038.6(APC):c.4742C>G (p.Ser1581Cys)
|
rs377169217
|
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.5257G>C (p.Ala1753Pro)
|
rs587781350
|
0.00001
|
NM_000038.6(APC):c.5264C>T (p.Ala1755Val)
|
rs771967537
|
0.00001
|
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)
|
rs752038930
|
0.00001
|
NM_000038.6(APC):c.5304G>A (p.Lys1768=)
|
rs863224285
|
0.00001
|
NM_000038.6(APC):c.5337A>G (p.Ile1779Met)
|
rs748063409
|
0.00001
|
NM_000038.6(APC):c.5372A>G (p.Lys1791Arg)
|
rs775740112
|
0.00001
|
NM_000038.6(APC):c.5422A>G (p.Asn1808Asp)
|
rs533762549
|
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.5794A>T (p.Thr1932Ser)
|
rs777604445
|
0.00001
|
NM_000038.6(APC):c.5981A>T (p.Asp1994Val)
|
rs774815653
|
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.6554G>A (p.Ser2185Asn)
|
rs764255983
|
0.00001
|
NM_000038.6(APC):c.6658A>G (p.Asn2220Asp)
|
rs374464049
|
0.00001
|
NM_000038.6(APC):c.6691A>T (p.Ile2231Phe)
|
rs534228737
|
0.00001
|
NM_000038.6(APC):c.6736G>A (p.Val2246Ile)
|
rs1055180096
|
0.00001
|
NM_000038.6(APC):c.6887G>A (p.Ser2296Asn)
|
rs919611781
|
0.00001
|
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)
|
rs1057517549
|
0.00001
|
NM_000038.6(APC):c.7262C>T (p.Ser2421Leu)
|
rs536557651
|
0.00001
|
NM_000038.6(APC):c.7378G>C (p.Ala2460Pro)
|
rs771929461
|
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.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.7778A>G (p.Asn2593Ser)
|
rs367676584
|
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.800G>A (p.Gly267Glu)
|
rs747759906
|
0.00001
|
NM_000038.6(APC):c.8057T>C (p.Val2686Ala)
|
rs757901425
|
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.884G>T (p.Ser295Ile)
|
rs752996559
|
0.00001
|
NM_000038.6(APC):c.918T>G (p.Ser306Arg)
|
rs730881231
|
0.00001
|
NM_000038.6(APC):c.933+5C>A
|
rs573528468
|
0.00001
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)
|
rs202144949
|
0.00001
|
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
|
rs765965513
|
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.3299C>T (p.Thr1100Met)
|
rs189445371
|
0.00001
|
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu)
|
rs567344545
|
0.00001
|
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile)
|
rs144535256
|
0.00001
|
NM_000051.4(ATM):c.4109+4T>C
|
rs754706599
|
0.00001
|
NM_000051.4(ATM):c.4110-4T>C
|
rs777186156
|
0.00001
|
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)
|
rs527471560
|
0.00001
|
NM_000051.4(ATM):c.4612-4T>G
|
rs569983068
|
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.497-4T>A
|
rs876659621
|
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.5177+3G>A
|
rs774216164
|
0.00001
|
NM_000051.4(ATM):c.5319+3C>A
|
rs371640963
|
0.00001
|
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)
|
rs776309355
|
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.5892G>C (p.Lys1964Asn)
|
rs786202728
|
0.00001
|
NM_000051.4(ATM):c.591A>T (p.Gly197=)
|
rs587780630
|
0.00001
|
NM_000051.4(ATM):c.6095+5A>G
|
rs757328753
|
0.00001
|
NM_000051.4(ATM):c.6778A>G (p.Ile2260Val)
|
rs1365474284
|
0.00001
|
NM_000051.4(ATM):c.69A>G (p.Arg23=)
|
rs876659304
|
0.00001
|
NM_000051.4(ATM):c.712A>G (p.Ile238Val)
|
rs754275014
|
0.00001
|
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)
|
rs775621333
|
0.00001
|
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg)
|
rs1064794239
|
0.00001
|
NM_000051.4(ATM):c.8530A>G (p.Ile2844Val)
|
rs756230327
|
0.00001
|
NM_000051.4(ATM):c.8850+4A>C
|
rs587782335
|
0.00001
|
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr)
|
rs778670498
|
0.00001
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val)
|
rs2077837721
|
0.00001
|
NM_000057.4(BLM):c.2662T>C (p.Tyr888His)
|
rs758696992
|
0.00001
|
NM_000057.4(BLM):c.888T>C (p.Tyr296=)
|
rs139277089
|
0.00001
|
NM_000059.4(BRCA2):c.1006G>A (p.Ala336Thr)
|
rs587782100
|
0.00001
|
NM_000059.4(BRCA2):c.10085T>C (p.Phe3362Ser)
|
rs756978580
|
0.00001
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
rs397507568
|
0.00001
|
NM_000059.4(BRCA2):c.1225G>A (p.Glu409Lys)
|
rs80358416
|
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.1462A>G (p.Ile488Val)
|
rs864622352
|
0.00001
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
rs80358439
|
0.00001
|
NM_000059.4(BRCA2):c.1624A>G (p.Ile542Val)
|
rs730881511
|
0.00001
|
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys)
|
rs80358459
|
0.00001
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
NM_000059.4(BRCA2):c.2148G>C (p.Gln716His)
|
rs876659550
|
0.00001
|
NM_000059.4(BRCA2):c.2276T>C (p.Leu759Pro)
|
rs1555282592
|
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.2461G>A (p.Val821Ile)
|
rs756411508
|
0.00001
|
NM_000059.4(BRCA2):c.2524G>C (p.Val842Leu)
|
rs587782454
|
0.00001
|
NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly)
|
rs55972907
|
0.00001
|
NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp)
|
rs80358535
|
0.00001
|
NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn)
|
rs539613324
|
0.00001
|
NM_000059.4(BRCA2):c.3090C>G (p.Phe1030Leu)
|
rs756152752
|
0.00001
|
NM_000059.4(BRCA2):c.3100A>G (p.Ile1034Val)
|
rs755227053
|
0.00001
|
NM_000059.4(BRCA2):c.3211C>T (p.His1071Tyr)
|
rs80358564
|
0.00001
|
NM_000059.4(BRCA2):c.3227T>C (p.Val1076Ala)
|
rs1060502498
|
0.00001
|
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val)
|
rs41293479
|
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.3509C>T (p.Ala1170Val)
|
rs80358599
|
0.00001
|
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val)
|
rs202230438
|
0.00001
|
NM_000059.4(BRCA2):c.3644G>A (p.Gly1215Glu)
|
rs773442698
|
0.00001
|
NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu)
|
rs80358616
|
0.00001
|
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys)
|
rs80358664
|
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.4372C>T (p.His1458Tyr)
|
rs80358672
|
0.00001
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
NM_000059.4(BRCA2):c.4672A>C (p.Ser1558Arg)
|
rs587782822
|
0.00001
|
NM_000059.4(BRCA2):c.4759G>A (p.Ala1587Thr)
|
rs56137239
|
0.00001
|
NM_000059.4(BRCA2):c.4835C>T (p.Pro1612Leu)
|
rs764834875
|
0.00001
|
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn)
|
rs397507341
|
0.00001
|
NM_000059.4(BRCA2):c.4901T>C (p.Phe1634Ser)
|
rs80358715
|
0.00001
|
NM_000059.4(BRCA2):c.4927G>A (p.Val1643Ile)
|
rs879254182
|
0.00001
|
NM_000059.4(BRCA2):c.5153A>G (p.Asn1718Ser)
|
rs80358739
|
0.00001
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)
|
rs28897735
|
0.00001
|
NM_000059.4(BRCA2):c.5378A>G (p.Asn1793Ser)
|
rs80358759
|
0.00001
|
NM_000059.4(BRCA2):c.5536A>G (p.Ile1846Val)
|
rs587782375
|
0.00001
|
NM_000059.4(BRCA2):c.5693A>G (p.Asp1898Gly)
|
rs876658786
|
0.00001
|
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg)
|
rs80358804
|
0.00001
|
NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile)
|
rs759138390
|
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.599C>T (p.Thr200Ile)
|
rs587781402
|
0.00001
|
NM_000059.4(BRCA2):c.6037A>G (p.Lys2013Glu)
|
rs80358840
|
0.00001
|
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn)
|
rs541826447
|
0.00001
|
NM_000059.4(BRCA2):c.6461A>C (p.Tyr2154Ser)
|
rs80358882
|
0.00001
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
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.6806T>C (p.Ile2269Thr)
|
rs398122564
|
0.00001
|
NM_000059.4(BRCA2):c.6832A>G (p.Ile2278Val)
|
rs772645059
|
0.00001
|
NM_000059.4(BRCA2):c.7121A>G (p.Asn2374Ser)
|
rs1379054137
|
0.00001
|
NM_000059.4(BRCA2):c.7402G>A (p.Val2468Ile)
|
rs730881553
|
0.00001
|
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)
|
rs80358970
|
0.00001
|
NM_000059.4(BRCA2):c.7484T>C (p.Ile2495Thr)
|
rs80358974
|
0.00001
|
NM_000059.4(BRCA2):c.7617+4T>C
|
rs397507923
|
0.00001
|
NM_000059.4(BRCA2):c.7651A>C (p.Lys2551Gln)
|
rs398122587
|
0.00001
|
NM_000059.4(BRCA2):c.7714A>G (p.Ser2572Gly)
|
rs1060502442
|
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.784G>A (p.Ala262Thr)
|
rs397507393
|
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.8045C>T (p.Ala2682Val)
|
rs773506092
|
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.8183T>C (p.Val2728Ala)
|
rs587781719
|
0.00001
|
NM_000059.4(BRCA2):c.8293T>G (p.Cys2765Gly)
|
rs768247528
|
0.00001
|
NM_000059.4(BRCA2):c.8382C>G (p.Phe2794Leu)
|
rs80359084
|
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.8539G>A (p.Glu2847Lys)
|
rs80359108
|
0.00001
|
NM_000059.4(BRCA2):c.8545A>G (p.Lys2849Glu)
|
rs80359109
|
0.00001
|
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys)
|
rs373203204
|
0.00001
|
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala)
|
rs151174152
|
0.00001
|
NM_000059.4(BRCA2):c.8893G>C (p.Asp2965His)
|
rs80359141
|
0.00001
|
NM_000059.4(BRCA2):c.8971C>T (p.Arg2991Cys)
|
rs751787816
|
0.00001
|
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)
|
rs80359155
|
0.00001
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
rs80359159
|
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.9249A>T (p.Lys3083Asn)
|
rs80359191
|
0.00001
|
NM_000059.4(BRCA2):c.9407T>C (p.Leu3136Pro)
|
rs398122614
|
0.00001
|
NM_000059.4(BRCA2):c.9442G>T (p.Ala3148Ser)
|
rs949790323
|
0.00001
|
NM_000059.4(BRCA2):c.9496G>A (p.Val3166Ile)
|
rs398122615
|
0.00001
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
NM_000059.4(BRCA2):c.9647T>C (p.Leu3216Pro)
|
rs431825377
|
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.415G>C (p.Gly139Arg)
|
rs587781733
|
0.00001
|
NM_000088.4(COL1A1):c.2481C>T (p.Gly827=)
|
rs779002822
|
0.00001
|
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=)
|
rs779337831
|
0.00001
|
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=)
|
rs751239116
|
0.00001
|
NM_000090.4(COL3A1):c.1761+6T>C
|
rs189483688
|
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_000117.3(EMD):c.385G>A (p.Ala129Thr)
|
rs782768362
|
0.00001
|
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr)
|
rs55831697
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
NM_000143.4(FH):c.1479A>G (p.Thr493=)
|
rs755633330
|
0.00001
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374
|
0.00001
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
NM_000152.5(GAA):c.702G>A (p.Thr234=)
|
rs755337511
|
0.00001
|
NM_000152.5(GAA):c.834G>A (p.Leu278=)
|
rs776314424
|
0.00001
|
NM_000152.5(GAA):c.876C>T (p.Tyr292=)
|
rs763216519
|
0.00001
|
NM_000152.5(GAA):c.900G>A (p.Ala300=)
|
rs759425304
|
0.00001
|
NM_000179.3(MSH6):c.1078A>G (p.Ser360Gly)
|
rs145994565
|
0.00001
|
NM_000179.3(MSH6):c.110C>T (p.Ala37Val)
|
rs763104308
|
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.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.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.194C>T (p.Ser65Leu)
|
rs41294984
|
0.00001
|
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)
|
rs143643688
|
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.2600T>G (p.Val867Gly)
|
rs139598980
|
0.00001
|
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)
|
rs143520357
|
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.33C>G (p.Phe11Leu)
|
rs747802641
|
0.00001
|
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)
|
rs587779273
|
0.00001
|
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)
|
rs780187989
|
0.00001
|
NM_000179.3(MSH6):c.4002-4T>C
|
rs370428032
|
0.00001
|
NM_000179.3(MSH6):c.458-17A>G
|
rs554847828
|
0.00001
|
NM_000179.3(MSH6):c.869T>C (p.Leu290Pro)
|
rs751309721
|
0.00001
|
NM_000179.3(MSH6):c.905G>A (p.Arg302Lys)
|
rs587781510
|
0.00001
|
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)
|
rs587781983
|
0.00001
|
NM_000214.3(JAG1):c.1101C>T (p.Thr367=)
|
rs766771784
|
0.00001
|
NM_000214.3(JAG1):c.1704C>T (p.Arg568=)
|
rs144985667
|
0.00001
|
NM_000214.3(JAG1):c.1866G>A (p.Thr622=)
|
rs140624746
|
0.00001
|
NM_000214.3(JAG1):c.1971C>T (p.Asp657=)
|
rs368661822
|
0.00001
|
NM_000214.3(JAG1):c.2148C>T (p.Asn716=)
|
rs550565756
|
0.00001
|
NM_000214.3(JAG1):c.2817C>T (p.Ser939=)
|
rs1180418350
|
0.00001
|
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=)
|
rs748849177
|
0.00001
|
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=)
|
rs759853433
|
0.00001
|
NM_000214.3(JAG1):c.702C>T (p.Cys234=)
|
rs202109974
|
0.00001
|
NM_000214.3(JAG1):c.915G>A (p.Pro305=)
|
rs371165309
|
0.00001
|
NM_000235.4(LIPA):c.1056C>T (p.Asp352=)
|
rs1564748504
|
0.00001
|
NM_000235.4(LIPA):c.1128C>T (p.Asp376=)
|
rs200420117
|
0.00001
|
NM_000235.4(LIPA):c.279T>C (p.Ser93=)
|
rs1011619050
|
0.00001
|
NM_000235.4(LIPA):c.870G>A (p.Val290=)
|
rs756950169
|
0.00001
|
NM_000238.4(KCNH2):c.2765G>A (p.Arg922Gln)
|
rs199473439
|
0.00001
|
NM_000245.4(MET):c.1699A>G (p.Lys567Glu)
|
rs769592729
|
0.00001
|
NM_000245.4(MET):c.1719A>G (p.Ala573=)
|
rs199776656
|
0.00001
|
NM_000245.4(MET):c.331G>A (p.Val111Ile)
|
rs368750834
|
0.00001
|
NM_000245.4(MET):c.3864C>T (p.Asn1288=)
|
rs768627036
|
0.00001
|
NM_000245.4(MET):c.62G>A (p.Arg21Lys)
|
rs964356368
|
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.1558+4C>T
|
rs531873434
|
0.00001
|
NM_000249.4(MLH1):c.1675C>A (p.Leu559Met)
|
rs780221881
|
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.2094A>G (p.Ser698=)
|
rs786202433
|
0.00001
|
NM_000249.4(MLH1):c.2135G>T (p.Trp712Leu)
|
rs63750561
|
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_000251.3(MSH2):c.100G>A (p.Val34Met)
|
rs1064793541
|
0.00001
|
NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)
|
rs878853797
|
0.00001
|
NM_000251.3(MSH2):c.1114T>G (p.Leu372Val)
|
rs770201760
|
0.00001
|
NM_000251.3(MSH2):c.1124C>T (p.Thr375Ile)
|
rs774539871
|
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.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.1253T>C (p.Ile418Thr)
|
rs786202303
|
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.1379T>C (p.Met460Thr)
|
rs1553361303
|
0.00001
|
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu)
|
rs63751403
|
0.00001
|
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)
|
rs587781314
|
0.00001
|
NM_000251.3(MSH2):c.1478A>T (p.Gln493Leu)
|
rs376990143
|
0.00001
|
NM_000251.3(MSH2):c.1484C>T (p.Thr495Ile)
|
rs756516114
|
0.00001
|
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)
|
rs755501968
|
0.00001
|
NM_000251.3(MSH2):c.1502G>A (p.Arg501Lys)
|
rs376677710
|
0.00001
|
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)
|
rs199744440
|
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.164G>A (p.Arg55Gln)
|
rs748196422
|
0.00001
|
NM_000251.3(MSH2):c.1729A>G (p.Ile577Val)
|
rs774985655
|
0.00001
|
NM_000251.3(MSH2):c.1760-3C>T
|
rs786202843
|
0.00001
|
NM_000251.3(MSH2):c.177G>C (p.Lys59Asn)
|
rs1449905909
|
0.00001
|
NM_000251.3(MSH2):c.1792G>A (p.Val598Met)
|
rs778152746
|
0.00001
|
NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)
|
rs779447213
|
0.00001
|
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)
|
rs748797209
|
0.00001
|
NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser)
|
rs150980616
|
0.00001
|
NM_000251.3(MSH2):c.1894A>G (p.Ile632Val)
|
rs1301770111
|
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.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.2038C>G (p.Arg680Gly)
|
rs63749932
|
0.00001
|
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)
|
rs755920849
|
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.212-3A>T
|
rs879255341
|
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.220A>C (p.Asn74His)
|
rs150548839
|
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.2315C>G (p.Thr772Arg)
|
rs1263286428
|
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.2542G>T (p.Ala848Ser)
|
rs746972142
|
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.2579C>T (p.Ser860Leu)
|
rs63750849
|
0.00001
|
NM_000251.3(MSH2):c.2593A>G (p.Ile865Val)
|
rs1013401625
|
0.00001
|
NM_000251.3(MSH2):c.2594T>C (p.Ile865Thr)
|
rs549759248
|
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.2798C>T (p.Thr933Ile)
|
rs587779968
|
0.00001
|
NM_000251.3(MSH2):c.319G>C (p.Ala107Pro)
|
rs587779158
|
0.00001
|
NM_000251.3(MSH2):c.366+4A>C
|
rs876659880
|
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.544G>T (p.Asp182Tyr)
|
rs730881770
|
0.00001
|
NM_000251.3(MSH2):c.547C>A (p.Gln183Lys)
|
rs63750037
|
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+3A>G
|
rs587779168
|
0.00001
|
NM_000251.3(MSH2):c.646-3T>C
|
rs267607930
|
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.715C>G (p.Gln239Glu)
|
rs63750488
|
0.00001
|
NM_000251.3(MSH2):c.725A>G (p.Asn242Ser)
|
rs779051492
|
0.00001
|
NM_000251.3(MSH2):c.72G>C (p.Gln24His)
|
rs1064794928
|
0.00001
|
NM_000251.3(MSH2):c.742A>G (p.Lys248Glu)
|
rs587779178
|
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.775C>T (p.Pro259Ser)
|
rs587781294
|
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.951T>A (p.Val317=)
|
rs1553353105
|
0.00001
|
NM_000251.3(MSH2):c.956A>T (p.Asp319Val)
|
rs786204185
|
0.00001
|
NM_000251.3(MSH2):c.982G>C (p.Ala328Pro)
|
rs753237286
|
0.00001
|
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)
|
rs779673318
|
0.00001
|
NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr)
|
rs730880692
|
0.00001
|
NM_000256.3(MYBPC3):c.2962G>A (p.Gly988Arg)
|
rs779781718
|
0.00001
|
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)
|
rs727503167
|
0.00001
|
NM_000257.4(MYH7):c.1749C>T (p.Ala583=)
|
rs758665829
|
0.00001
|
NM_000257.4(MYH7):c.2472C>T (p.Val824=)
|
rs397516150
|
0.00001
|
NM_000257.4(MYH7):c.2692C>T (p.Leu898=)
|
rs727504407
|
0.00001
|
NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu)
|
rs546586969
|
0.00001
|
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His)
|
rs200000290
|
0.00001
|
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=)
|
rs886050419
|
0.00001
|
NM_000257.4(MYH7):c.4659C>T (p.His1553=)
|
rs570079347
|
0.00001
|
NM_000257.4(MYH7):c.4680G>A (p.Arg1560=)
|
rs771236158
|
0.00001
|
NM_000257.4(MYH7):c.4689G>A (p.Leu1563=)
|
rs770477774
|
0.00001
|
NM_000257.4(MYH7):c.4787C>T (p.Ser1596Leu)
|
rs774540446
|
0.00001
|
NM_000257.4(MYH7):c.5328C>T (p.Ser1776=)
|
rs765263589
|
0.00001
|
NM_000258.3(MYL3):c.220G>A (p.Gly74Arg)
|
rs730880956
|
0.00001
|
NM_000264.5(PTCH1):c.1628G>A (p.Arg543His)
|
rs150284288
|
0.00001
|
NM_000264.5(PTCH1):c.1837T>C (p.Cys613Arg)
|
rs948568790
|
0.00001
|
NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu)
|
rs765258547
|
0.00001
|
NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg)
|
rs587778628
|
0.00001
|
NM_000264.5(PTCH1):c.3607A>C (p.Ser1203Arg)
|
rs1564008885
|
0.00001
|
NM_000314.8(PTEN):c.114T>G (p.Pro38=)
|
rs748040144
|
0.00001
|
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys)
|
rs757498880
|
0.00001
|
NM_000335.5(SCN5A):c.1538G>A (p.Arg513His)
|
rs397517951
|
0.00001
|
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=)
|
rs751050999
|
0.00001
|
NM_000335.5(SCN5A):c.2379C>T (p.Leu793=)
|
rs758397582
|
0.00001
|
NM_000335.5(SCN5A):c.3301G>A (p.Ala1101Thr)
|
rs1481582794
|
0.00001
|
NM_000335.5(SCN5A):c.3456G>C (p.Gln1152His)
|
rs776705132
|
0.00001
|
NM_000335.5(SCN5A):c.401A>G (p.Asn134Ser)
|
rs879162705
|
0.00001
|
NM_000335.5(SCN5A):c.4068G>A (p.Ala1356=)
|
rs187370816
|
0.00001
|
NM_000335.5(SCN5A):c.4812C>T (p.Gly1604=)
|
rs773016454
|
0.00001
|
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=)
|
rs886058460
|
0.00001
|
NM_000335.5(SCN5A):c.5218G>A (p.Asp1740Asn)
|
rs746418124
|
0.00001
|
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=)
|
rs780761880
|
0.00001
|
NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser)
|
rs199473637
|
0.00001
|
NM_000335.5(SCN5A):c.687T>C (p.Thr229=)
|
rs770390440
|
0.00001
|
NM_000363.5(TNNI3):c.340A>G (p.Ile114Val)
|
rs730881070
|
0.00001
|
NM_000363.5(TNNI3):c.34C>T (p.Pro12Ser)
|
rs553214254
|
0.00001
|
NM_000368.5(TSC1):c.1190C>T (p.Pro397Leu)
|
rs766487204
|
0.00001
|
NM_000368.5(TSC1):c.135G>A (p.Leu45=)
|
rs149278759
|
0.00001
|
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp)
|
rs118203342
|
0.00001
|
NM_000368.5(TSC1):c.1591G>A (p.Val531Met)
|
rs377279170
|
0.00001
|
NM_000368.5(TSC1):c.1794C>T (p.Ser598=)
|
rs766438395
|
0.00001
|
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg)
|
rs748901883
|
0.00001
|
NM_000368.5(TSC1):c.2781G>A (p.Lys927=)
|
rs118203733
|
0.00001
|
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His)
|
rs767946427
|
0.00001
|
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr)
|
rs764738792
|
0.00001
|
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp)
|
rs1313165721
|
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.546C>T (p.Ala182=)
|
rs1245007527
|
0.00001
|
NM_000368.5(TSC1):c.598G>A (p.Val200Ile)
|
rs118203410
|
0.00001
|
NM_000384.3(APOB):c.10025C>T (p.Ser3342Phe)
|
rs267599180
|
0.00001
|
NM_000384.3(APOB):c.13154G>A (p.Arg4385His)
|
rs533755016
|
0.00001
|
NM_000384.3(APOB):c.2398C>A (p.Leu800Met)
|
rs183950016
|
0.00001
|
NM_000384.3(APOB):c.2676G>A (p.Pro892=)
|
rs759072451
|
0.00001
|
NM_000384.3(APOB):c.3239A>G (p.Asn1080Ser)
|
rs201825493
|
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.1109-4C>T
|
rs1407794756
|
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.1217C>T (p.Ala406Val)
|
rs748202003
|
0.00001
|
NM_000455.5(STK11):c.1222G>A (p.Gly408Ser)
|
rs749463771
|
0.00001
|
NM_000455.5(STK11):c.1252T>A (p.Cys418Ser)
|
rs730881991
|
0.00001
|
NM_000455.5(STK11):c.1259C>T (p.Ala420Val)
|
rs369033659
|
0.00001
|
NM_000455.5(STK11):c.434A>G (p.Glu145Gly)
|
rs369764220
|
0.00001
|
NM_000455.5(STK11):c.449T>C (p.Val150Ala)
|
rs587781802
|
0.00001
|
NM_000455.5(STK11):c.464+4C>T
|
rs373167735
|
0.00001
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
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.877G>A (p.Glu293Lys)
|
rs398123405
|
0.00001
|
NM_000455.5(STK11):c.902G>A (p.Arg301Gln)
|
rs370222210
|
0.00001
|
NM_000455.5(STK11):c.976C>A (p.Pro326Thr)
|
rs771632414
|
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.1300A>T (p.Ile434Phe)
|
rs758049210
|
0.00001
|
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)
|
rs587781874
|
0.00001
|
NM_000465.4(BARD1):c.1847G>A (p.Ser616Asn)
|
rs1475259063
|
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.465A>G (p.Arg155=)
|
rs730881413
|
0.00001
|
NM_000465.4(BARD1):c.835T>C (p.Ser279Pro)
|
rs587781456
|
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_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser)
|
rs766541549
|
0.00001
|
NM_000492.4(CFTR):c.2505T>C (p.Asp835=)
|
rs761043298
|
0.00001
|
NM_000492.4(CFTR):c.2526A>G (p.Ala842=)
|
rs758128209
|
0.00001
|
NM_000492.4(CFTR):c.3139+8A>G
|
rs193922517
|
0.00001
|
NM_000492.4(CFTR):c.3368-20C>T
|
rs761144879
|
0.00001
|
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)
|
rs397508607
|
0.00001
|
NM_000492.4(CFTR):c.4143C>T (p.Tyr1381=)
|
rs397508683
|
0.00001
|
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys)
|
rs758012554
|
0.00001
|
NM_000527.5(LDLR):c.1515C>T (p.Gly505=)
|
rs780757228
|
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.1420G>T (p.Ala474Ser)
|
rs373114291
|
0.00001
|
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val)
|
rs587779328
|
0.00001
|
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)
|
rs376142390
|
0.00001
|
NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu)
|
rs1554297497
|
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.1928A>G (p.Gln643Arg)
|
rs760629688
|
0.00001
|
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val)
|
rs587780047
|
0.00001
|
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu)
|
rs377259633
|
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.755G>A (p.Cys252Tyr)
|
rs775445157
|
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_000546.6(TP53):c.1025G>A (p.Arg342Gln)
|
rs375338359
|
0.00001
|
NM_000546.6(TP53):c.1048C>G (p.Leu350Val)
|
rs768046010
|
0.00001
|
NM_000546.6(TP53):c.1066G>C (p.Gly356Arg)
|
rs766786605
|
0.00001
|
NM_000546.6(TP53):c.1136G>A (p.Arg379His)
|
rs863224682
|
0.00001
|
NM_000546.6(TP53):c.1151T>C (p.Met384Thr)
|
rs1060501196
|
0.00001
|
NM_000546.6(TP53):c.14A>G (p.Gln5Arg)
|
rs781595324
|
0.00001
|
NM_000546.6(TP53):c.171C>A (p.Asp57Glu)
|
rs587782776
|
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.229C>T (p.Pro77Ser)
|
rs753085009
|
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.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.399G>A (p.Met133Ile)
|
rs1064795139
|
0.00001
|
NM_000546.6(TP53):c.463A>G (p.Thr155Ala)
|
rs772683278
|
0.00001
|
NM_000546.6(TP53):c.4G>A (p.Glu2Lys)
|
rs769884991
|
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.760A>G (p.Ile254Val)
|
rs746601313
|
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.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.949C>A (p.Gln317Lys)
|
rs764735889
|
0.00001
|
NM_000546.6(TP53):c.970G>C (p.Asp324His)
|
rs1064794810
|
0.00001
|
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)
|
rs796053483
|
0.00001
|
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala)
|
rs772617064
|
0.00001
|
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu)
|
rs45471596
|
0.00001
|
NM_000548.5(TSC2):c.1754G>A (p.Arg585His)
|
rs397515063
|
0.00001
|
NM_000548.5(TSC2):c.1944C>T (p.Tyr648=)
|
rs878925198
|
0.00001
|
NM_000548.5(TSC2):c.2128C>T (p.Leu710=)
|
rs1225700612
|
0.00001
|
NM_000548.5(TSC2):c.2467C>T (p.Leu823=)
|
rs554509064
|
0.00001
|
NM_000548.5(TSC2):c.2586G>A (p.Ala862=)
|
rs752865665
|
0.00001
|
NM_000548.5(TSC2):c.3209C>T (p.Thr1070Met)
|
rs147989574
|
0.00001
|
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu)
|
rs773545852
|
0.00001
|
NM_000548.5(TSC2):c.3300G>A (p.Val1100=)
|
rs765436350
|
0.00001
|
NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln)
|
rs368666554
|
0.00001
|
NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu)
|
rs45517326
|
0.00001
|
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val)
|
rs201979616
|
0.00001
|
NM_000548.5(TSC2):c.4074C>T (p.Pro1358=)
|
rs144098854
|
0.00001
|
NM_000548.5(TSC2):c.4176G>A (p.Gln1392=)
|
rs749930791
|
0.00001
|
NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser)
|
rs558737770
|
0.00001
|
NM_000548.5(TSC2):c.4577C>A (p.Ser1526Tyr)
|
rs796053498
|
0.00001
|
NM_000548.5(TSC2):c.4617A>G (p.Ser1539=)
|
rs201038907
|
0.00001
|
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn)
|
rs796872464
|
0.00001
|
NM_000548.5(TSC2):c.4950C>T (p.Tyr1650=)
|
rs1283177454
|
0.00001
|
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp)
|
rs374410454
|
0.00001
|
NM_000548.5(TSC2):c.629C>T (p.Ala210Val)
|
rs764925296
|
0.00001
|
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
0.00001
|
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)
|
rs745901803
|
0.00001
|
NM_000551.4(VHL):c.373C>T (p.His125Tyr)
|
rs375401722
|
0.00001
|
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met)
|
rs752677964
|
0.00001
|
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met)
|
rs749031775
|
0.00001
|
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys)
|
rs774002530
|
0.00001
|
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)
|
rs761378545
|
0.00001
|
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=)
|
rs757290350
|
0.00001
|
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=)
|
rs398123521
|
0.00001
|
NM_000719.7(CACNA1C):c.363C>T (p.Val121=)
|
rs886042281
|
0.00001
|
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=)
|
rs757373786
|
0.00001
|
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr)
|
rs786205742
|
0.00001
|
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=)
|
rs750835120
|
0.00001
|
NM_000719.7(CACNA1C):c.609G>A (p.Val203=)
|
rs1417477759
|
0.00001
|
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=)
|
rs750459136
|
0.00001
|
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)
|
rs535608443
|
0.00001
|
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=)
|
rs1238340088
|
0.00001
|
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=)
|
rs1336081746
|
0.00001
|
NM_000890.5(KCNJ5):c.214C>T (p.Arg72Trp)
|
rs757877367
|
0.00001
|
NM_000891.3(KCNJ2):c.261C>T (p.Ile87=)
|
rs1166497262
|
0.00001
|
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp)
|
rs758092571
|
0.00001
|
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)
|
rs777477467
|
0.00001
|
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala)
|
rs765195368
|
0.00001
|
NM_001035.3(RYR2):c.10125A>G (p.Arg3375=)
|
rs764396074
|
0.00001
|
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)
|
rs375213838
|
0.00001
|
NM_001035.3(RYR2):c.1527C>T (p.Ser509=)
|
rs886042568
|
0.00001
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
NM_001035.3(RYR2):c.4626G>A (p.Ala1542=)
|
rs1272771676
|
0.00001
|
NM_001035.3(RYR2):c.4752G>A (p.Pro1584=)
|
rs780111656
|
0.00001
|
NM_001037.5(SCN1B):c.266G>A (p.Arg89His)
|
rs138381632
|
0.00001
|
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile)
|
rs77106213
|
0.00001
|
NM_001042492.3(NF1):c.1392G>A (p.Pro464=)
|
rs201604273
|
0.00001
|
NM_001042492.3(NF1):c.1541A>C (p.Gln514Pro)
|
rs775369084
|
0.00001
|
NM_001042492.3(NF1):c.1921A>G (p.Ser641Gly)
|
rs769154907
|
0.00001
|
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)
|
rs140653372
|
0.00001
|
NM_001042492.3(NF1):c.2251+5A>G
|
rs786201934
|
0.00001
|
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro)
|
rs768425956
|
0.00001
|
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)
|
rs876659944
|
0.00001
|
NM_001042492.3(NF1):c.354C>T (p.Cys118=)
|
rs768777585
|
0.00001
|
NM_001042492.3(NF1):c.3619A>C (p.Arg1207=)
|
rs202208560
|
0.00001
|
NM_001042492.3(NF1):c.3732T>A (p.Val1244=)
|
rs756653022
|
0.00001
|
NM_001042492.3(NF1):c.3871-4G>C
|
rs558421445
|
0.00001
|
NM_001042492.3(NF1):c.475A>G (p.Thr159Ala)
|
rs371192107
|
0.00001
|
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)
|
rs185660700
|
0.00001
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
NM_001042492.3(NF1):c.5290G>A (p.Val1764Ile)
|
rs778427434
|
0.00001
|
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val)
|
rs559910904
|
0.00001
|
NM_001042492.3(NF1):c.551A>G (p.Asn184Ser)
|
rs876659849
|
0.00001
|
NM_001042492.3(NF1):c.587-3C>T
|
rs375188075
|
0.00001
|
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
NM_001042492.3(NF1):c.6672G>A (p.Lys2224=)
|
rs771835288
|
0.00001
|
NM_001042492.3(NF1):c.6806G>A (p.Arg2269His)
|
rs562367786
|
0.00001
|
NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe)
|
rs144287929
|
0.00001
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile)
|
rs755749772
|
0.00001
|
NM_001042492.3(NF1):c.7359C>T (p.Cys2453=)
|
rs1555536126
|
0.00001
|
NM_001042492.3(NF1):c.7394A>G (p.Asp2465Gly)
|
rs143474365
|
0.00001
|
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)
|
rs748027595
|
0.00001
|
NM_001042492.3(NF1):c.7742C>G (p.Thr2581Ser)
|
rs757632129
|
0.00001
|
NM_001042492.3(NF1):c.7841A>G (p.Lys2614Arg)
|
rs587781502
|
0.00001
|
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)
|
rs778799019
|
0.00001
|
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met)
|
rs779789452
|
0.00001
|
NM_001042492.3(NF1):c.8378-4C>T
|
rs587782700
|
0.00001
|
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)
|
rs778233452
|
0.00001
|
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met)
|
rs368149035
|
0.00001
|
NM_001042492.3(NF1):c.91C>T (p.His31Tyr)
|
rs786202864
|
0.00001
|
NM_001048174.2(MUTYH):c.116-46A>G
|
rs748362676
|
0.00001
|
NM_001048174.2(MUTYH):c.367G>A (p.Gly123Arg)
|
rs587782165
|
0.00001
|
NM_001048174.2(MUTYH):c.492+3A>G
|
rs765792042
|
0.00001
|
NM_001048174.2(MUTYH):c.635C>T (p.Ala212Val)
|
rs369120013
|
0.00001
|
NM_001048174.2(MUTYH):c.802C>T (p.Leu268=)
|
rs778782508
|
0.00001
|
NM_001048174.2(MUTYH):c.842G>A (p.Arg281His)
|
rs587782727
|
0.00001
|
NM_001048174.2(MUTYH):c.852G>A (p.Val284=)
|
rs751875215
|
0.00001
|
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)
|
rs558173961
|
0.00001
|
NM_001079802.2(FKTN):c.357A>G (p.Leu119=)
|
rs760933616
|
0.00001
|
NM_001079802.2(FKTN):c.588C>T (p.Asp196=)
|
rs1222153269
|
0.00001
|
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)
|
rs1037514591
|
0.00001
|
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)
|
rs538984401
|
0.00001
|
NM_001105206.3(LAMA4):c.2146G>A (p.Val716Ile)
|
rs141742906
|
0.00001
|
NM_001105206.3(LAMA4):c.3311A>G (p.Asn1104Ser)
|
rs542157463
|
0.00001
|
NM_001134363.3(RBM20):c.3662G>A (p.Arg1221His)
|
rs1421547378
|
0.00001
|
NM_001148.6(ANK2):c.10573G>A (p.Glu3525Lys)
|
rs781552524
|
0.00001
|
NM_001148.6(ANK2):c.1252G>A (p.Val418Met)
|
rs760073103
|
0.00001
|
NM_001148.6(ANK2):c.1986A>G (p.Gly662=)
|
rs765012746
|
0.00001
|
NM_001148.6(ANK2):c.4687A>C (p.Asn1563His)
|
rs1476737595
|
0.00001
|
NM_001148.6(ANK2):c.6875G>A (p.Arg2292Gln)
|
rs1350377647
|
0.00001
|
NM_001148.6(ANK2):c.7249G>C (p.Asp2417His)
|
rs372545180
|
0.00001
|
NM_001148.6(ANK2):c.7532G>A (p.Arg2511Gln)
|
rs142684331
|
0.00001
|
NM_001148.6(ANK2):c.7546A>G (p.Ser2516Gly)
|
rs771826064
|
0.00001
|
NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu)
|
rs777477439
|
0.00001
|
NM_001148.6(ANK2):c.8057T>C (p.Val2686Ala)
|
rs56095304
|
0.00001
|
NM_001148.6(ANK2):c.8447G>A (p.Gly2816Asp)
|
rs199538455
|
0.00001
|
NM_001159699.2(FHL1):c.88T>C (p.Leu30=)
|
rs1313810606
|
0.00001
|
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=)
|
rs749232409
|
0.00001
|
NM_001267550.2(TTN):c.100167A>G (p.Pro33389=)
|
rs778478048
|
0.00001
|
NM_001267550.2(TTN):c.100629T>C (p.Tyr33543=)
|
rs772935423
|
0.00001
|
NM_001267550.2(TTN):c.100662G>A (p.Gln33554=)
|
rs1036339690
|
0.00001
|
NM_001267550.2(TTN):c.102025T>C (p.Leu34009=)
|
rs794727543
|
0.00001
|
NM_001267550.2(TTN):c.10288A>C (p.Asn3430His)
|
rs376029089
|
0.00001
|
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=)
|
rs528502993
|
0.00001
|
NM_001267550.2(TTN):c.103207C>T (p.Leu34403=)
|
rs773892755
|
0.00001
|
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His)
|
rs762235688
|
0.00001
|
NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=)
|
rs548677252
|
0.00001
|
NM_001267550.2(TTN):c.105852C>G (p.Ala35284=)
|
rs776786546
|
0.00001
|
NM_001267550.2(TTN):c.105999G>A (p.Gln35333=)
|
rs764231632
|
0.00001
|
NM_001267550.2(TTN):c.107832G>A (p.Arg35944=)
|
rs759154562
|
0.00001
|
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met)
|
rs397517825
|
0.00001
|
NM_001267550.2(TTN):c.12387G>A (p.Arg4129=)
|
rs199546417
|
0.00001
|
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp)
|
rs768608500
|
0.00001
|
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn)
|
rs377074955
|
0.00001
|
NM_001267550.2(TTN):c.2649C>T (p.Phe883=)
|
rs775588479
|
0.00001
|
NM_001267550.2(TTN):c.267G>A (p.Ala89=)
|
rs577716745
|
0.00001
|
NM_001267550.2(TTN):c.2766C>T (p.Arg922=)
|
rs372617952
|
0.00001
|
NM_001267550.2(TTN):c.2916G>A (p.Pro972=)
|
rs757569345
|
0.00001
|
NM_001267550.2(TTN):c.3414A>G (p.Glu1138=)
|
rs777365068
|
0.00001
|
NM_001267550.2(TTN):c.40800C>A (p.Ile13600=)
|
rs879111430
|
0.00001
|
NM_001267550.2(TTN):c.41778T>C (p.Asp13926=)
|
rs766397292
|
0.00001
|
NM_001267550.2(TTN):c.42613T>C (p.Leu14205=)
|
rs747480084
|
0.00001
|
NM_001267550.2(TTN):c.43623G>A (p.Ser14541=)
|
rs369434563
|
0.00001
|
NM_001267550.2(TTN):c.43716G>T (p.Gly14572=)
|
rs200065187
|
0.00001
|
NM_001267550.2(TTN):c.43836A>G (p.Ala14612=)
|
rs755492644
|
0.00001
|
NM_001267550.2(TTN):c.44112C>T (p.His14704=)
|
rs754693395
|
0.00001
|
NM_001267550.2(TTN):c.4641G>T (p.Val1547=)
|
rs1012929202
|
0.00001
|
NM_001267550.2(TTN):c.46899G>A (p.Gly15633=)
|
rs727504195
|
0.00001
|
NM_001267550.2(TTN):c.47430T>C (p.Thr15810=)
|
rs373878153
|
0.00001
|
NM_001267550.2(TTN):c.47481G>A (p.Gln15827=)
|
rs752514306
|
0.00001
|
NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr)
|
rs749678590
|
0.00001
|
NM_001267550.2(TTN):c.48960T>C (p.Asp16320=)
|
rs1057523898
|
0.00001
|
NM_001267550.2(TTN):c.50148T>A (p.Thr16716=)
|
rs374138859
|
0.00001
|
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)
|
rs397517599
|
0.00001
|
NM_001267550.2(TTN):c.51099C>T (p.Leu17033=)
|
rs755994820
|
0.00001
|
NM_001267550.2(TTN):c.51122A>G (p.Asn17041Ser)
|
rs774659339
|
0.00001
|
NM_001267550.2(TTN):c.51231C>A (p.Thr17077=)
|
rs779518431
|
0.00001
|
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)
|
rs397517607
|
0.00001
|
NM_001267550.2(TTN):c.52374T>C (p.Val17458=)
|
rs752571545
|
0.00001
|
NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=)
|
rs1553687219
|
0.00001
|
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)
|
rs397517612
|
0.00001
|
NM_001267550.2(TTN):c.55341G>A (p.Pro18447=)
|
rs779464399
|
0.00001
|
NM_001267550.2(TTN):c.55986C>T (p.Val18662=)
|
rs747136342
|
0.00001
|
NM_001267550.2(TTN):c.57243T>A (p.Ile19081=)
|
rs1185555417
|
0.00001
|
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=)
|
rs370091658
|
0.00001
|
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=)
|
rs727504980
|
0.00001
|
NM_001267550.2(TTN):c.59502T>C (p.Asp19834=)
|
rs972823319
|
0.00001
|
NM_001267550.2(TTN):c.60342C>T (p.Thr20114=)
|
rs529529087
|
0.00001
|
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys)
|
rs562680371
|
0.00001
|
NM_001267550.2(TTN):c.6243C>T (p.Phe2081=)
|
rs770052197
|
0.00001
|
NM_001267550.2(TTN):c.6406T>C (p.Leu2136=)
|
rs765377738
|
0.00001
|
NM_001267550.2(TTN):c.64642G>T (p.Asp21548Tyr)
|
rs749070255
|
0.00001
|
NM_001267550.2(TTN):c.64785T>C (p.Tyr21595=)
|
rs751009684
|
0.00001
|
NM_001267550.2(TTN):c.65514C>T (p.Thr21838=)
|
rs372543748
|
0.00001
|
NM_001267550.2(TTN):c.68997C>A (p.Thr22999=)
|
rs369068922
|
0.00001
|
NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys)
|
rs775743818
|
0.00001
|
NM_001267550.2(TTN):c.71667T>C (p.Ser23889=)
|
rs756824434
|
0.00001
|
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)
|
rs374509926
|
0.00001
|
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)
|
rs397517690
|
0.00001
|
NM_001267550.2(TTN):c.72231A>G (p.Glu24077=)
|
rs1423712037
|
0.00001
|
NM_001267550.2(TTN):c.72803G>A (p.Arg24268His)
|
rs140018785
|
0.00001
|
NM_001267550.2(TTN):c.73224G>A (p.Gly24408=)
|
rs371034493
|
0.00001
|
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=)
|
rs368530092
|
0.00001
|
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)
|
rs373527654
|
0.00001
|
NM_001267550.2(TTN):c.74763C>T (p.Ser24921=)
|
rs371563258
|
0.00001
|
NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu)
|
rs531281558
|
0.00001
|
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=)
|
rs757252494
|
0.00001
|
NM_001267550.2(TTN):c.77978C>T (p.Pro25993Leu)
|
rs771646684
|
0.00001
|
NM_001267550.2(TTN):c.78000A>G (p.Thr26000=)
|
rs1178033234
|
0.00001
|
NM_001267550.2(TTN):c.7818G>A (p.Ala2606=)
|
rs935809232
|
0.00001
|
NM_001267550.2(TTN):c.78372T>C (p.Ile26124=)
|
rs886044461
|
0.00001
|
NM_001267550.2(TTN):c.795C>T (p.Ser265=)
|
rs780802517
|
0.00001
|
NM_001267550.2(TTN):c.8013C>A (p.Gly2671=)
|
rs369439944
|
0.00001
|
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)
|
rs368263400
|
0.00001
|
NM_001267550.2(TTN):c.80841T>C (p.Phe26947=)
|
rs1015506783
|
0.00001
|
NM_001267550.2(TTN):c.82539C>T (p.Gly27513=)
|
rs775673876
|
0.00001
|
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser)
|
rs727505053
|
0.00001
|
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)
|
rs397517730
|
0.00001
|
NM_001267550.2(TTN):c.85746A>C (p.Ile28582=)
|
rs771116739
|
0.00001
|
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=)
|
rs546573613
|
0.00001
|
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=)
|
rs773001228
|
0.00001
|
NM_001267550.2(TTN):c.864C>T (p.His288=)
|
rs772543040
|
0.00001
|
NM_001267550.2(TTN):c.87081A>G (p.Arg29027=)
|
rs886042694
|
0.00001
|
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)
|
rs369444690
|
0.00001
|
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His)
|
rs143193258
|
0.00001
|
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=)
|
rs371678936
|
0.00001
|
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His)
|
rs369279892
|
0.00001
|
NM_001267550.2(TTN):c.89552C>A (p.Ala29851Asp)
|
rs774885355
|
0.00001
|
NM_001267550.2(TTN):c.90246A>G (p.Ile30082Met)
|
rs886038812
|
0.00001
|
NM_001267550.2(TTN):c.9108T>C (p.Ala3036=)
|
rs886044544
|
0.00001
|
NM_001267550.2(TTN):c.91224C>T (p.Ser30408=)
|
rs1057522835
|
0.00001
|
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)
|
rs553668520
|
0.00001
|
NM_001267550.2(TTN):c.918C>T (p.Ser306=)
|
rs773898647
|
0.00001
|
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=)
|
rs545632095
|
0.00001
|
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys)
|
rs531432790
|
0.00001
|
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=)
|
rs1280272876
|
0.00001
|
NM_001267550.2(TTN):c.93603C>T (p.Phe31201=)
|
rs765759269
|
0.00001
|
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=)
|
rs727504528
|
0.00001
|
NM_001267550.2(TTN):c.94053G>A (p.Ser31351=)
|
rs777229309
|
0.00001
|
NM_001267550.2(TTN):c.94590A>G (p.Pro31530=)
|
rs558347312
|
0.00001
|
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=)
|
rs746787955
|
0.00001
|
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val)
|
rs397517771
|
0.00001
|
NM_001267550.2(TTN):c.98341T>C (p.Cys32781Arg)
|
rs562178341
|
0.00001
|
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=)
|
rs727504322
|
0.00001
|
NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=)
|
rs72657324
|
0.00001
|
NM_001277115.2(DNAH11):c.5475A>G (p.Gln1825=)
|
rs373354778
|
0.00001
|
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=)
|
rs201934527
|
0.00001
|
NM_001283009.2(RTEL1):c.3184G>A (p.Ala1062Thr)
|
rs773397014
|
0.00001
|
NM_001365276.2(TNXB):c.1290C>T (p.Cys430=)
|
rs1331733789
|
0.00001
|
NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile)
|
rs751045102
|
0.00001
|
NM_001365276.2(TNXB):c.6550G>A (p.Glu2184Lys)
|
rs754026612
|
0.00001
|
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)
|
rs201990547
|
0.00001
|
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)
|
rs200876333
|
0.00001
|
NM_001367624.2(ZNF469):c.10181C>T (p.Pro3394Leu)
|
rs1906689587
|
0.00001
|
NM_001367624.2(ZNF469):c.11576C>T (p.Pro3859Leu)
|
rs1056874191
|
0.00001
|
NM_001367624.2(ZNF469):c.2017G>A (p.Ala673Thr)
|
rs770623245
|
0.00001
|
NM_001367624.2(ZNF469):c.2332G>A (p.Ala778Thr)
|
rs761152033
|
0.00001
|
NM_001367624.2(ZNF469):c.2661C>T (p.Ser887=)
|
rs1906033837
|
0.00001
|
NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser)
|
rs886052399
|
0.00001
|
NM_001367624.2(ZNF469):c.3040A>G (p.Arg1014Gly)
|
rs1408770467
|
0.00001
|
NM_001367624.2(ZNF469):c.3264G>A (p.Arg1088=)
|
rs1339157257
|
0.00001
|
NM_001367624.2(ZNF469):c.4969A>C (p.Thr1657Pro)
|
rs996995845
|
0.00001
|
NM_001367624.2(ZNF469):c.601G>A (p.Ala201Thr)
|
rs765651977
|
0.00001
|
NM_001367624.2(ZNF469):c.6872C>T (p.Thr2291Ile)
|
rs992962962
|
0.00001
|
NM_001367624.2(ZNF469):c.7012G>A (p.Gly2338Ser)
|
rs772172396
|
0.00001
|
NM_001367624.2(ZNF469):c.7229C>G (p.Ala2410Gly)
|
rs1011558573
|
0.00001
|
NM_001367624.2(ZNF469):c.7318G>A (p.Gly2440Ser)
|
rs761232264
|
0.00001
|
NM_001367624.2(ZNF469):c.7847G>A (p.Arg2616His)
|
rs368063668
|
0.00001
|
NM_001367624.2(ZNF469):c.8183G>A (p.Arg2728Gln)
|
rs1378526888
|
0.00001
|
NM_001367624.2(ZNF469):c.9088G>A (p.Gly3030Ser)
|
rs773580012
|
0.00001
|
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=)
|
rs764201218
|
0.00001
|
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu)
|
rs761102084
|
0.00001
|
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser)
|
rs376872829
|
0.00001
|
NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala)
|
rs753007435
|
0.00001
|
NM_001374736.1(DST):c.1872T>G (p.Ser624=)
|
rs994026153
|
0.00001
|
NM_001374736.1(DST):c.19415A>G (p.Lys6472Arg)
|
rs904996327
|
0.00001
|
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=)
|
rs747504060
|
0.00001
|
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)
|
rs572605877
|
0.00001
|
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)
|
rs772260271
|
0.00001
|
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln)
|
rs200979896
|
0.00001
|
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)
|
rs777796888
|
0.00001
|
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)
|
rs762528364
|
0.00001
|
NM_001378969.1(KCND3):c.186G>A (p.Pro62=)
|
rs1411627342
|
0.00001
|
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val)
|
rs770387107
|
0.00001
|
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg)
|
rs1301940016
|
0.00001
|
NM_001387283.1(SMARCA4):c.4202C>T (p.Ala1401Val)
|
rs771008873
|
0.00001
|
NM_001387283.1(SMARCA4):c.4216C>T (p.Arg1406Cys)
|
rs587778686
|
0.00001
|
NM_001458.5(FLNC):c.3054C>T (p.Gly1018=)
|
rs769624093
|
0.00001
|
NM_001458.5(FLNC):c.5281G>A (p.Ala1761Thr)
|
rs376023896
|
0.00001
|
NM_001458.5(FLNC):c.5544C>T (p.Ser1848=)
|
rs1350503435
|
0.00001
|
NM_001458.5(FLNC):c.5955G>A (p.Ser1985=)
|
rs777895128
|
0.00001
|
NM_001458.5(FLNC):c.6441C>T (p.Ile2147=)
|
rs762017885
|
0.00001
|
NM_001458.5(FLNC):c.8080G>A (p.Val2694Ile)
|
rs765388755
|
0.00001
|
NM_001927.4(DES):c.822C>T (p.Leu274=)
|
rs763599850
|
0.00001
|
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn)
|
rs753406968
|
0.00001
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
NM_002230.4(JUP):c.266T>C (p.Met89Thr)
|
rs542745694
|
0.00001
|
NM_002230.4(JUP):c.661G>A (p.Ala221Thr)
|
rs782076415
|
0.00001
|
NM_002230.4(JUP):c.950A>T (p.Gln317Leu)
|
rs782509792
|
0.00001
|
NM_002439.5(MSH3):c.144C>T (p.Asp48=)
|
rs747024539
|
0.00001
|
NM_002439.5(MSH3):c.195G>C (p.Ala65=)
|
rs761734241
|
0.00001
|
NM_002439.5(MSH3):c.2655A>G (p.Ser885=)
|
rs192592067
|
0.00001
|
NM_002439.5(MSH3):c.2985G>A (p.Glu995=)
|
rs1324032838
|
0.00001
|
NM_002474.3(MYH11):c.5089G>A (p.Ala1697Thr)
|
rs538145374
|
0.00001
|
NM_002474.3(MYH11):c.5874G>A (p.Thr1958=)
|
rs761000142
|
0.00001
|
NM_002485.5(NBN):c.1315A>G (p.Ile439Val)
|
rs752837508
|
0.00001
|
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)
|
rs143948240
|
0.00001
|
NM_002485.5(NBN):c.1659G>A (p.Met553Ile)
|
rs876659960
|
0.00001
|
NM_002485.5(NBN):c.171+4T>C
|
rs587782290
|
0.00001
|
NM_002485.5(NBN):c.297T>C (p.Phe99=)
|
rs1563580668
|
0.00001
|
NM_002485.5(NBN):c.468A>C (p.Lys156Asn)
|
rs730881858
|
0.00001
|
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)
|
rs730881844
|
0.00001
|
NM_002528.7(NTHL1):c.146G>A (p.Arg49His)
|
rs566254536
|
0.00001
|
NM_002528.7(NTHL1):c.17C>T (p.Ala6Val)
|
rs767282292
|
0.00001
|
NM_002528.7(NTHL1):c.519C>T (p.Phe173=)
|
rs1401228518
|
0.00001
|
NM_002528.7(NTHL1):c.621G>A (p.Pro207=)
|
rs745383145
|
0.00001
|
NM_002582.4(PARN):c.1067A>G (p.Asn356Ser)
|
rs757655633
|
0.00001
|
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn)
|
rs750896639
|
0.00001
|
NM_002691.4(POLD1):c.1148C>T (p.Thr383Ile)
|
rs201654210
|
0.00001
|
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val)
|
rs752444746
|
0.00001
|
NM_002691.4(POLD1):c.1506C>A (p.Asp502Glu)
|
rs753870010
|
0.00001
|
NM_002691.4(POLD1):c.1869G>T (p.Arg623=)
|
rs748380365
|
0.00001
|
NM_002691.4(POLD1):c.2142G>A (p.Leu714=)
|
rs1060501816
|
0.00001
|
NM_002691.4(POLD1):c.3079G>A (p.Glu1027Lys)
|
rs1489140479
|
0.00001
|
NM_002691.4(POLD1):c.429C>T (p.Gly143=)
|
rs372244044
|
0.00001
|
NM_002691.4(POLD1):c.564G>A (p.Leu188=)
|
rs2038665417
|
0.00001
|
NM_002691.4(POLD1):c.658G>A (p.Val220Met)
|
rs749052483
|
0.00001
|
NM_002691.4(POLD1):c.789C>T (p.Cys263=)
|
rs766087932
|
0.00001
|
NM_002691.4(POLD1):c.89G>A (p.Arg30Gln)
|
rs765969481
|
0.00001
|
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser)
|
rs771613524
|
0.00001
|
NM_002755.4(MAP2K1):c.984A>C (p.Gly328=)
|
rs773755873
|
0.00001
|
NM_002769.5(PRSS1):c.721A>G (p.Asn241Asp)
|
rs141554682
|
0.00001
|
NM_002834.5(PTPN11):c.957C>T (p.Asn319=)
|
rs771407775
|
0.00001
|
NM_002878.4(RAD51D):c.144+3G>T
|
rs761057565
|
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.70A>G (p.Arg24Gly)
|
rs781611267
|
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_002880.4(RAF1):c.1687C>T (p.Arg563Ter)
|
rs532786413
|
0.00001
|
NM_002880.4(RAF1):c.321T>C (p.Gly107=)
|
rs201937982
|
0.00001
|
NM_002880.4(RAF1):c.601A>G (p.Ile201Val)
|
rs757700986
|
0.00001
|
NM_002890.3(RASA1):c.3133G>T (p.Asp1045Tyr)
|
rs144524710
|
0.00001
|
NM_002907.4(RECQL):c.1382A>G (p.His461Arg)
|
rs201573409
|
0.00001
|
NM_003072.5(SMARCA4):c.1098C>G (p.Ile366Met)
|
rs532242119
|
0.00001
|
NM_003072.5(SMARCA4):c.1135G>A (p.Ala379Thr)
|
rs769660597
|
0.00001
|
NM_003072.5(SMARCA4):c.1158A>G (p.Glu386=)
|
rs1268876800
|
0.00001
|
NM_003072.5(SMARCA4):c.1341G>A (p.Leu447=)
|
rs147558972
|
0.00001
|
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu)
|
rs747463080
|
0.00001
|
NM_003072.5(SMARCA4):c.2286G>A (p.Leu762=)
|
rs1600208852
|
0.00001
|
NM_003072.5(SMARCA4):c.4026G>A (p.Glu1342=)
|
rs1029640674
|
0.00001
|
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser)
|
rs1060502082
|
0.00001
|
NM_003072.5(SMARCA4):c.458C>T (p.Pro153Leu)
|
rs539710314
|
0.00001
|
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser)
|
rs372319442
|
0.00001
|
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met)
|
rs757412819
|
0.00001
|
NM_003072.5(SMARCA4):c.4885G>A (p.Asp1629Asn)
|
rs374648988
|
0.00001
|
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu)
|
rs587778683
|
0.00001
|
NM_003072.5(SMARCA4):c.952G>A (p.Val318Ile)
|
rs758091260
|
0.00001
|
NM_003072.5(SMARCA4):c.973G>A (p.Val325Met)
|
rs1361910224
|
0.00001
|
NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu)
|
rs781703999
|
0.00001
|
NM_003242.6(TGFBR2):c.610G>A (p.Gly204Ser)
|
rs773431795
|
0.00001
|
NM_003480.4(MFAP5):c.512A>G (p.Asn171Ser)
|
rs1042828478
|
0.00001
|
NM_004006.3(DMD):c.243G>A (p.Leu81=)
|
rs748842563
|
0.00001
|
NM_004006.3(DMD):c.4995C>T (p.Ser1665=)
|
rs775659020
|
0.00001
|
NM_004006.3(DMD):c.5439T>C (p.Asn1813=)
|
rs1238738620
|
0.00001
|
NM_004006.3(DMD):c.5658T>C (p.Ala1886=)
|
rs398123994
|
0.00001
|
NM_004006.3(DMD):c.7956T>C (p.Ser2652=)
|
rs757902182
|
0.00001
|
NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser)
|
rs755445214
|
0.00001
|
NM_004006.3(DMD):c.9051G>A (p.Leu3017=)
|
rs772255929
|
0.00001
|
NM_004006.3(DMD):c.9667G>T (p.Ala3223Ser)
|
rs1319200626
|
0.00001
|
NM_004100.5(EYA4):c.723A>G (p.Pro241=)
|
rs556550485
|
0.00001
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
NM_004281.4(BAG3):c.465A>G (p.Ala155=)
|
rs775151738
|
0.00001
|
NM_004304.5(ALK):c.1067A>G (p.Gln356Arg)
|
rs773367495
|
0.00001
|
NM_004304.5(ALK):c.107C>T (p.Pro36Leu)
|
rs773691688
|
0.00001
|
NM_004304.5(ALK):c.1155T>C (p.Gly385=)
|
rs369505500
|
0.00001
|
NM_004304.5(ALK):c.1219A>C (p.Ile407Leu)
|
rs765139446
|
0.00001
|
NM_004304.5(ALK):c.1547A>G (p.Asp516Gly)
|
rs761724656
|
0.00001
|
NM_004304.5(ALK):c.1833G>A (p.Met611Ile)
|
rs1302907379
|
0.00001
|
NM_004304.5(ALK):c.1908C>G (p.Leu636=)
|
rs1268649558
|
0.00001
|
NM_004304.5(ALK):c.2040A>G (p.Thr680=)
|
rs748335936
|
0.00001
|
NM_004304.5(ALK):c.2304T>C (p.Asp768=)
|
rs758649392
|
0.00001
|
NM_004304.5(ALK):c.254C>T (p.Pro85Leu)
|
rs748100651
|
0.00001
|
NM_004304.5(ALK):c.2560G>A (p.Asp854Asn)
|
rs189078025
|
0.00001
|
NM_004304.5(ALK):c.3236A>C (p.Lys1079Thr)
|
rs754163075
|
0.00001
|
NM_004304.5(ALK):c.3366G>A (p.Leu1122=)
|
rs758871506
|
0.00001
|
NM_004304.5(ALK):c.3842G>A (p.Ser1281Asn)
|
rs761459938
|
0.00001
|
NM_004304.5(ALK):c.415A>G (p.Lys139Glu)
|
rs749530596
|
0.00001
|
NM_004304.5(ALK):c.4237G>A (p.Val1413Met)
|
rs560530815
|
0.00001
|
NM_004304.5(ALK):c.4307G>A (p.Arg1436His)
|
rs544926207
|
0.00001
|
NM_004304.5(ALK):c.4344C>T (p.Ser1448=)
|
rs886055929
|
0.00001
|
NM_004304.5(ALK):c.4411G>A (p.Val1471Met)
|
rs201759867
|
0.00001
|
NM_004304.5(ALK):c.4608G>A (p.Glu1536=)
|
rs147241767
|
0.00001
|
NM_004304.5(ALK):c.4809T>C (p.His1603=)
|
rs758502850
|
0.00001
|
NM_004304.5(ALK):c.709T>C (p.Ser237Pro)
|
rs757916299
|
0.00001
|
NM_004304.5(ALK):c.775C>T (p.Arg259Cys)
|
rs771593278
|
0.00001
|
NM_004304.5(ALK):c.84C>T (p.Arg28=)
|
rs1355709394
|
0.00001
|
NM_004329.3(BMPR1A):c.1324C>T (p.Arg442Cys)
|
rs587782496
|
0.00001
|
NM_004329.3(BMPR1A):c.1432C>T (p.Arg478Cys)
|
rs372178531
|
0.00001
|
NM_004329.3(BMPR1A):c.22A>G (p.Ile8Val)
|
rs863224719
|
0.00001
|
NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys)
|
rs879254272
|
0.00001
|
NM_004329.3(BMPR1A):c.59G>A (p.Arg20His)
|
rs759014147
|
0.00001
|
NM_004329.3(BMPR1A):c.634C>A (p.Gln212Lys)
|
rs876658138
|
0.00001
|
NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe)
|
rs587780110
|
0.00001
|
NM_004329.3(BMPR1A):c.74A>G (p.Asn25Ser)
|
rs1060503410
|
0.00001
|
NM_004329.3(BMPR1A):c.869-4A>C
|
rs964020576
|
0.00001
|
NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser)
|
rs753521037
|
0.00001
|
NM_004333.6(BRAF):c.1305G>A (p.Arg435=)
|
rs763771673
|
0.00001
|
NM_004360.5(CDH1):c.1008+4del
|
rs746392709
|
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.1171G>A (p.Val391Ile)
|
rs556110297
|
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.1334A>C (p.Glu445Ala)
|
rs374398608
|
0.00001
|
NM_004360.5(CDH1):c.1351A>C (p.Ile451Leu)
|
rs377416092
|
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.1526C>A (p.Thr509Asn)
|
rs771551231
|
0.00001
|
NM_004360.5(CDH1):c.1634G>T (p.Arg545Leu)
|
rs587780115
|
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.2179C>T (p.Leu727Phe)
|
rs578069093
|
0.00001
|
NM_004360.5(CDH1):c.2261A>G (p.Tyr754Cys)
|
rs767613429
|
0.00001
|
NM_004360.5(CDH1):c.2318A>G (p.His773Arg)
|
rs587782823
|
0.00001
|
NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile)
|
rs587780120
|
0.00001
|
NM_004360.5(CDH1):c.2515G>A (p.Gly839Ser)
|
rs587780121
|
0.00001
|
NM_004360.5(CDH1):c.2542C>T (p.Leu848=)
|
rs1567517746
|
0.00001
|
NM_004360.5(CDH1):c.2603G>A (p.Arg868His)
|
rs369126891
|
0.00001
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
NM_004360.5(CDH1):c.724G>A (p.Val242Ile)
|
rs111662525
|
0.00001
|
NM_004360.5(CDH1):c.731A>G (p.Asp244Gly)
|
rs1064794231
|
0.00001
|
NM_004360.5(CDH1):c.794A>T (p.Glu265Val)
|
rs587782728
|
0.00001
|
NM_004360.5(CDH1):c.901G>A (p.Ala301Thr)
|
rs749056300
|
0.00001
|
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=)
|
rs746594822
|
0.00001
|
NM_004415.4(DSP):c.1730T>C (p.Met577Thr)
|
rs141956992
|
0.00001
|
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)
|
rs577061462
|
0.00001
|
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)
|
rs562015789
|
0.00001
|
NM_004415.4(DSP):c.598-5C>T
|
rs765653540
|
0.00001
|
NM_004415.4(DSP):c.6550G>A (p.Val2184Met)
|
rs774832931
|
0.00001
|
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=)
|
rs886063223
|
0.00001
|
NM_004655.4(AXIN2):c.1284C>A (p.Ser428=)
|
rs750126379
|
0.00001
|
NM_004655.4(AXIN2):c.1494C>T (p.Pro498=)
|
rs1353761854
|
0.00001
|
NM_004655.4(AXIN2):c.1531A>T (p.Thr511Ser)
|
rs376936740
|
0.00001
|
NM_004655.4(AXIN2):c.21G>A (p.Val7=)
|
rs1467193033
|
0.00001
|
NM_004655.4(AXIN2):c.2487G>A (p.Pro829=)
|
rs768793839
|
0.00001
|
NM_004655.4(AXIN2):c.33G>A (p.Pro11=)
|
rs768626471
|
0.00001
|
NM_004655.4(AXIN2):c.414C>T (p.Tyr138=)
|
rs878854730
|
0.00001
|
NM_004655.4(AXIN2):c.558C>T (p.Ala186=)
|
rs1598119456
|
0.00001
|
NM_004656.4(BAP1):c.1052C>T (p.Thr351Ile)
|
rs1291142030
|
0.00001
|
NM_004656.4(BAP1):c.1166G>A (p.Arg389His)
|
rs770778299
|
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.123-3C>T
|
rs543305514
|
0.00001
|
NM_004656.4(BAP1):c.1331C>T (p.Thr444Ile)
|
rs1290996849
|
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.1555C>T (p.Pro519Ser)
|
rs759622893
|
0.00001
|
NM_004656.4(BAP1):c.1651C>T (p.Arg551Cys)
|
rs755664216
|
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.256-3C>A
|
rs752536342
|
0.00001
|
NM_004656.4(BAP1):c.341G>A (p.Arg114His)
|
rs773494626
|
0.00001
|
NM_004656.4(BAP1):c.67+5G>C
|
rs1033651300
|
0.00001
|
NM_004656.4(BAP1):c.783+2T>C
|
rs774730309
|
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_004982.4(KCNJ8):c.720G>A (p.Val240=)
|
rs876661349
|
0.00001
|
NM_004990.4(MARS1):c.1422G>C (p.Trp474Cys)
|
rs781462684
|
0.00001
|
NM_004990.4(MARS1):c.1445C>T (p.Thr482Ile)
|
rs1173899198
|
0.00001
|
NM_005188.4(CBL):c.125A>T (p.His42Leu)
|
rs730880433
|
0.00001
|
NM_005188.4(CBL):c.660G>A (p.Glu220=)
|
rs949933368
|
0.00001
|
NM_005219.5(DIAPH1):c.2773G>A (p.Val925Met)
|
rs773243948
|
0.00001
|
NM_005219.5(DIAPH1):c.545C>A (p.Thr182Lys)
|
rs746125273
|
0.00001
|
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)
|
rs147621330
|
0.00001
|
NM_005359.6(SMAD4):c.566G>A (p.Arg189His)
|
rs759288477
|
0.00001
|
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)
|
rs587780793
|
0.00001
|
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)
|
rs539739051
|
0.00001
|
NM_005431.2(XRCC2):c.356A>C (p.Tyr119Ser)
|
rs540634835
|
0.00001
|
NM_005477.3(HCN4):c.1459G>A (p.Val487Met)
|
rs202037304
|
0.00001
|
NM_005477.3(HCN4):c.2055C>T (p.Ser685=)
|
rs886042819
|
0.00001
|
NM_005477.3(HCN4):c.2523G>A (p.Ser841=)
|
rs768157473
|
0.00001
|
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=)
|
rs1250688041
|
0.00001
|
NM_005633.4(SOS1):c.3282T>G (p.Gly1094=)
|
rs145357714
|
0.00001
|
NM_005732.4(RAD50):c.1166G>A (p.Ser389Asn)
|
rs1193573653
|
0.00001
|
NM_005732.4(RAD50):c.756+5C>T
|
rs587782827
|
0.00001
|
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu)
|
rs121908566
|
0.00001
|
NM_005902.4(SMAD3):c.179T>C (p.Val60Ala)
|
rs1242358787
|
0.00001
|
NM_005902.4(SMAD3):c.597C>T (p.Ser199=)
|
rs769225687
|
0.00001
|
NM_005902.4(SMAD3):c.798G>A (p.Ser266=)
|
rs761391442
|
0.00001
|
NM_006206.6(PDGFRA):c.1516C>T (p.Leu506Phe)
|
rs142980928
|
0.00001
|
NM_006206.6(PDGFRA):c.613G>A (p.Val205Ile)
|
rs775304724
|
0.00001
|
NM_006231.4(POLE):c.3447G>A (p.Ala1149=)
|
rs758702382
|
0.00001
|
NM_006231.4(POLE):c.391G>T (p.Val131Leu)
|
rs745601745
|
0.00001
|
NM_006231.4(POLE):c.6041G>A (p.Gly2014Glu)
|
rs757480645
|
0.00001
|
NM_006514.4(SCN10A):c.1715C>T (p.Pro572Leu)
|
rs553784643
|
0.00001
|
NM_006514.4(SCN10A):c.2209G>A (p.Val737Ile)
|
rs764654464
|
0.00001
|
NM_006514.4(SCN10A):c.2483C>T (p.Pro828Leu)
|
rs749000689
|
0.00001
|
NM_006514.4(SCN10A):c.4245G>A (p.Gly1415=)
|
rs771909114
|
0.00001
|
NM_006514.4(SCN10A):c.5306A>C (p.Asp1769Ala)
|
rs377121469
|
0.00001
|
NM_006514.4(SCN10A):c.5446G>A (p.Gly1816Arg)
|
rs779692735
|
0.00001
|
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His)
|
rs771334638
|
0.00001
|
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val)
|
rs767714019
|
0.00001
|
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln)
|
rs751254270
|
0.00001
|
NM_007078.3(LDB3):c.723C>T (p.Ser241=)
|
rs200580597
|
0.00001
|
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr)
|
rs749520121
|
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.1374A>G (p.Lys458=)
|
rs776093527
|
0.00001
|
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe)
|
rs28909981
|
0.00001
|
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His)
|
rs948928965
|
0.00001
|
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys)
|
rs769819013
|
0.00001
|
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)
|
rs876660788
|
0.00001
|
NM_007194.4(CHEK2):c.444+3A>G
|
rs587781279
|
0.00001
|
NM_007272.3(CTRC):c.68C>T (p.Pro23Leu)
|
rs533967597
|
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.144G>A (p.Met48Ile)
|
rs587783040
|
0.00001
|
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp)
|
rs398122639
|
0.00001
|
NM_007294.4(BRCA1):c.16C>T (p.Leu6Phe)
|
rs1315262605
|
0.00001
|
NM_007294.4(BRCA1):c.1907G>A (p.Cys636Tyr)
|
rs398122649
|
0.00001
|
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)
|
rs144792613
|
0.00001
|
NM_007294.4(BRCA1):c.22G>A (p.Val8Ile)
|
rs528902306
|
0.00001
|
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)
|
rs80357209
|
0.00001
|
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp)
|
rs397507199
|
0.00001
|
NM_007294.4(BRCA1):c.255G>T (p.Glu85Asp)
|
rs756499058
|
0.00001
|
NM_007294.4(BRCA1):c.267C>G (p.Ile89Met)
|
rs80356963
|
0.00001
|
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)
|
rs80357311
|
0.00001
|
NM_007294.4(BRCA1):c.3116C>T (p.Ala1039Val)
|
rs1173254670
|
0.00001
|
NM_007294.4(BRCA1):c.3211G>A (p.Glu1071Lys)
|
rs41293445
|
0.00001
|
NM_007294.4(BRCA1):c.3662A>C (p.Glu1221Ala)
|
rs273900713
|
0.00001
|
NM_007294.4(BRCA1):c.4006A>T (p.Ser1336Cys)
|
rs976725810
|
0.00001
|
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg)
|
rs80356986
|
0.00001
|
NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=)
|
rs1250691798
|
0.00001
|
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr)
|
rs80357470
|
0.00001
|
NM_007294.4(BRCA1):c.4730C>A (p.Ser1577Tyr)
|
rs273901741
|
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.4894G>A (p.Val1632Met)
|
rs770193975
|
0.00001
|
NM_007294.4(BRCA1):c.4949T>C (p.Met1650Thr)
|
rs778487856
|
0.00001
|
NM_007294.4(BRCA1):c.5024C>T (p.Thr1675Ile)
|
rs150729791
|
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.5153-3T>C
|
rs375639469
|
0.00001
|
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu)
|
rs398122695
|
0.00001
|
NM_007294.4(BRCA1):c.5416C>G (p.Pro1806Ala)
|
rs80357241
|
0.00001
|
NM_007294.4(BRCA1):c.5481G>A (p.Met1827Ile)
|
rs587782432
|
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.995G>A (p.Arg332Gln)
|
rs80357464
|
0.00001
|
NM_007373.4(SHOC2):c.183A>G (p.Gln61=)
|
rs371640183
|
0.00001
|
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=)
|
rs1022057422
|
0.00001
|
NM_014391.3(ANKRD1):c.256G>C (p.Asp86His)
|
rs573892607
|
0.00001
|
NM_015450.3(POT1):c.899A>G (p.Asn300Ser)
|
rs573222502
|
0.00001
|
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile)
|
rs771104054
|
0.00001
|
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser)
|
rs761312526
|
0.00001
|
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln)
|
rs369910221
|
0.00001
|
NM_016169.4(SUFU):c.894G>T (p.Arg298=)
|
rs372636246
|
0.00001
|
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)
|
rs730880970
|
0.00001
|
NM_016203.4(PRKAG2):c.703C>T (p.Leu235=)
|
rs1476121151
|
0.00001
|
NM_017636.4(TRPM4):c.1515T>A (p.His505Gln)
|
rs1202211366
|
0.00001
|
NM_017849.4(TMEM127):c.130C>T (p.Leu44=)
|
rs754493061
|
0.00001
|
NM_017849.4(TMEM127):c.313C>T (p.Leu105=)
|
rs754465684
|
0.00001
|
NM_017849.4(TMEM127):c.354G>A (p.Pro118=)
|
rs1392614291
|
0.00001
|
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys)
|
rs1489341724
|
0.00001
|
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His)
|
rs773033304
|
0.00001
|
NM_020297.4(ABCC9):c.1129A>G (p.Ile377Val)
|
rs567016348
|
0.00001
|
NM_020297.4(ABCC9):c.4512T>A (p.Ala1504=)
|
rs777591544
|
0.00001
|
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys)
|
rs748282723
|
0.00001
|
NM_020778.5(ALPK3):c.1081G>A (p.Val361Met)
|
rs774628152
|
0.00001
|
NM_020778.5(ALPK3):c.1286T>C (p.Leu429Pro)
|
rs115200412
|
0.00001
|
NM_020778.5(ALPK3):c.3966C>T (p.Ser1322=)
|
rs764601903
|
0.00001
|
NM_020778.5(ALPK3):c.4889C>T (p.Ala1630Val)
|
rs748424712
|
0.00001
|
NM_020975.6(RET):c.1102C>T (p.Arg368Cys)
|
rs754116867
|
0.00001
|
NM_020975.6(RET):c.2412G>A (p.Val804=)
|
rs767045208
|
0.00001
|
NM_020975.6(RET):c.2945G>A (p.Arg982His)
|
rs368550200
|
0.00001
|
NM_020975.6(RET):c.667G>A (p.Val223Met)
|
rs587780815
|
0.00001
|
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=)
|
rs764435162
|
0.00001
|
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile)
|
rs368423685
|
0.00001
|
NM_022436.3(ABCG5):c.780T>C (p.Phe260=)
|
rs765847597
|
0.00001
|
NM_022436.3(ABCG5):c.828G>A (p.Thr276=)
|
rs539178581
|
0.00001
|
NM_022437.3(ABCG8):c.1059G>C (p.Val353=)
|
rs751866338
|
0.00001
|
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=)
|
rs763640657
|
0.00001
|
NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=)
|
rs369023184
|
0.00001
|
NM_022437.3(ABCG8):c.579G>A (p.Ala193=)
|
rs747555833
|
0.00001
|
NM_024301.5(FKRP):c.699G>A (p.Val233=)
|
rs764527541
|
0.00001
|
NM_024301.5(FKRP):c.703C>T (p.Leu235=)
|
rs1428469954
|
0.00001
|
NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp)
|
rs201453637
|
0.00001
|
NM_024422.6(DSC2):c.1081G>A (p.Val361Met)
|
rs751810874
|
0.00001
|
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met)
|
rs756497616
|
0.00001
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
NM_024422.6(DSC2):c.777C>T (p.Gly259=)
|
rs565694087
|
0.00001
|
NM_024529.5(CDC73):c.1453C>G (p.Leu485Val)
|
rs761968225
|
0.00001
|
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly)
|
rs876659751
|
0.00001
|
NM_024675.4(PALB2):c.109-5T>C
|
rs749299119
|
0.00001
|
NM_024675.4(PALB2):c.1192G>A (p.Val398Met)
|
rs769097541
|
0.00001
|
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)
|
rs587781824
|
0.00001
|
NM_024675.4(PALB2):c.1400G>A (p.Gly467Asp)
|
rs730881906
|
0.00001
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala)
|
rs1393117824
|
0.00001
|
NM_024675.4(PALB2):c.1660G>A (p.Glu554Lys)
|
rs377486858
|
0.00001
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
NM_024675.4(PALB2):c.1958G>A (p.Cys653Tyr)
|
rs771246748
|
0.00001
|
NM_024675.4(PALB2):c.2277A>G (p.Gln759=)
|
rs786202524
|
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.2514+3dup
|
rs587781602
|
0.00001
|
NM_024675.4(PALB2):c.2522C>T (p.Thr841Ile)
|
rs1373085553
|
0.00001
|
NM_024675.4(PALB2):c.2677G>T (p.Asp893Tyr)
|
rs765077104
|
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.2834+5G>A
|
rs570455216
|
0.00001
|
NM_024675.4(PALB2):c.292A>G (p.Ile98Val)
|
rs587782831
|
0.00001
|
NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg)
|
rs202222149
|
0.00001
|
NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val)
|
rs774517454
|
0.00001
|
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)
|
rs370404126
|
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.769G>A (p.Gly257Ser)
|
rs587780824
|
0.00001
|
NM_024675.4(PALB2):c.892G>A (p.Val298Ile)
|
rs1060502765
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
NM_032043.3(BRIP1):c.1077A>G (p.Ile359Met)
|
rs730881634
|
0.00001
|
NM_032043.3(BRIP1):c.10A>G (p.Met4Val)
|
rs45512093
|
0.00001
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)
|
rs587782254
|
0.00001
|
NM_032043.3(BRIP1):c.226G>A (p.Val76Ile)
|
rs769573395
|
0.00001
|
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
NM_032043.3(BRIP1):c.2689A>G (p.Lys897Glu)
|
rs587781644
|
0.00001
|
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)
|
rs778916092
|
0.00001
|
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg)
|
rs147119272
|
0.00001
|
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)
|
rs587782734
|
0.00001
|
NM_032043.3(BRIP1):c.56A>G (p.Tyr19Cys)
|
rs876660880
|
0.00001
|
NM_032578.4(MYPN):c.1876G>A (p.Asp626Asn)
|
rs754064567
|
0.00001
|
NM_033337.3(CAV3):c.117G>C (p.Val39=)
|
rs753959620
|
0.00001
|
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp)
|
rs552998417
|
0.00001
|
NM_058216.3(RAD51C):c.563A>T (p.Lys188Met)
|
rs587781680
|
0.00001
|
NM_058216.3(RAD51C):c.641G>A (p.Arg214His)
|
rs760911964
|
0.00001
|
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln)
|
rs730881926
|
0.00001
|
NM_130468.4(CHST14):c.198C>G (p.Ala66=)
|
rs1014902072
|
0.00001
|
NM_144573.4(NEXN):c.1653A>G (p.Leu551=)
|
rs794727078
|
0.00001
|
NM_144997.7(FLCN):c.1160C>T (p.Ala387Val)
|
rs1431737113
|
0.00001
|
NM_144997.7(FLCN):c.1312A>T (p.Ile438Phe)
|
rs759743111
|
0.00001
|
NM_152594.3(SPRED1):c.196A>C (p.Arg66=)
|
rs751923342
|
0.00001
|
NM_170707.4(LMNA):c.111G>A (p.Glu37=)
|
rs886038906
|
0.00001
|
NM_170707.4(LMNA):c.1182C>T (p.Thr394=)
|
rs1409406468
|
0.00001
|
NM_170707.4(LMNA):c.1488+8G>A
|
rs762836610
|
0.00001
|
NM_170707.4(LMNA):c.1764C>T (p.Cys588=)
|
rs759016336
|
0.00001
|
NM_170707.4(LMNA):c.1773C>T (p.Cys591=)
|
rs397517897
|
0.00001
|
NM_170707.4(LMNA):c.498G>A (p.Arg166=)
|
rs886043189
|
0.00001
|
NM_170707.4(LMNA):c.643C>T (p.Leu215=)
|
rs397517905
|
0.00001
|
NM_170707.4(LMNA):c.870G>A (p.Glu290=)
|
rs747275587
|
0.00001
|
NM_174936.4(PCSK9):c.1323G>A (p.Val441=)
|
rs1365723695
|
0.00001
|
NM_177438.3(DICER1):c.141T>C (p.Tyr47=)
|
rs1313430297
|
0.00001
|
NM_177438.3(DICER1):c.2553G>A (p.Gln851=)
|
rs373715574
|
0.00001
|
NM_177438.3(DICER1):c.255C>G (p.Ile85Met)
|
rs763422772
|
0.00001
|
NM_177438.3(DICER1):c.3459C>T (p.Cys1153=)
|
rs1300692476
|
0.00001
|
NM_177438.3(DICER1):c.3987A>G (p.Thr1329=)
|
rs373810197
|
0.00001
|
NM_177438.3(DICER1):c.4894T>C (p.Ser1632Pro)
|
rs545392797
|
0.00001
|
NM_177438.3(DICER1):c.4911G>A (p.Ser1637=)
|
rs1447821588
|
0.00001
|
NM_177438.3(DICER1):c.5652A>G (p.Val1884=)
|
rs780084290
|
0.00001
|
NM_177438.3(DICER1):c.574-7_574-5del
|
rs753080447
|
0.00001
|
NM_198253.3(TERT):c.1043G>A (p.Ser348Asn)
|
rs1279397908
|
0.00001
|
NM_198253.3(TERT):c.3018G>C (p.Leu1006=)
|
rs941352340
|
0.00001
|
NM_198253.3(TERT):c.456G>C (p.Leu152=)
|
rs757121533
|
0.00001
|
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr)
|
rs542541060
|
0.00001
|
NM_000038.6(APC):c.1318G>A (p.Ala440Thr)
|
rs1064793023
|
|
NM_000038.6(APC):c.1338C>A (p.Ile446=)
|
rs759703047
|
|
NM_000038.6(APC):c.15A>G (p.Ser5=)
|
rs1554067106
|
|
NM_000038.6(APC):c.181G>A (p.Ala61Thr)
|
rs786201989
|
|
NM_000038.6(APC):c.21T>C (p.Asp7=)
|
rs2149737434
|
|
NM_000038.6(APC):c.221-5T>C
|
rs1057524155
|
|
NM_000038.6(APC):c.2587_2589del (p.Tyr863del)
|
rs1554084281
|
|
NM_000038.6(APC):c.2658G>T (p.Gln886His)
|
rs587780593
|
|
NM_000038.6(APC):c.2719G>A (p.Gly907Arg)
|
rs771458366
|
|
NM_000038.6(APC):c.2834_2835delinsTT (p.Arg945Ile)
|
rs786204162
|
|
NM_000038.6(APC):c.3007G>A (p.Asp1003Asn)
|
rs564314108
|
|
NM_000038.6(APC):c.304T>C (p.Ser102Pro)
|
rs753302494
|
|
NM_000038.6(APC):c.3377G>A (p.Ser1126Asn)
|
rs767339739
|
|
NM_000038.6(APC):c.3445GAA[2] (p.Glu1151del)
|
rs761327787
|
|
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.420G>C (p.Glu140Asp)
|
rs202161017
|
|
NM_000038.6(APC):c.4332A>T (p.Gln1444His)
|
rs748342378
|
|
NM_000038.6(APC):c.4349G>A (p.Arg1450Gln)
|
rs587782678
|
|
NM_000038.6(APC):c.4441G>A (p.Val1481Ile)
|
rs587782349
|
|
NM_000038.6(APC):c.4487C>G (p.Thr1496Ser)
|
rs2229996
|
|
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.5266TCT[2] (p.Ser1758del)
|
rs780061589
|
|
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.5894A>G (p.His1965Arg)
|
rs773776516
|
|
NM_000038.6(APC):c.5939A>G (p.Asn1980Ser)
|
|
|
NM_000038.6(APC):c.6213A>G (p.Ile2071Met)
|
rs876660358
|
|
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.6963A>G (p.Ile2321Met)
|
rs1561611578
|
|
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.7219G>A (p.Gly2407Ser)
|
rs1561613753
|
|
NM_000038.6(APC):c.730-5A>G
|
rs1561514828
|
|
NM_000038.6(APC):c.768T>G (p.Asp256Glu)
|
rs764268036
|
|
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile)
|
rs587778037
|
|
NM_000038.6(APC):c.7858T>A (p.Phe2620Ile)
|
rs587781816
|
|
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.895T>A (p.Ser299Thr)
|
rs763630775
|
|
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del)
|
rs532489785
|
|
NM_000039.3(APOA1):c.576C>G (p.Asp192Glu)
|
|
|
NM_000039.3(APOA1):c.662C>G (p.Thr221Ser)
|
|
|
NM_000051.4(ATM):c.1065+5A>T
|
rs1204741025
|
|
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.1273G>T (p.Ala425Ser)
|
rs769214234
|
|
NM_000051.4(ATM):c.1434A>G (p.Ser478=)
|
rs2135322636
|
|
NM_000051.4(ATM):c.1584T>C (p.Thr528=)
|
rs864622408
|
|
NM_000051.4(ATM):c.1677A>G (p.Ile559Met)
|
rs1190611996
|
|
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.2125-3A>C
|
rs1565394396
|
|
NM_000051.4(ATM):c.2125-4T>C
|
rs1064795623
|
|
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.2321G>T (p.Gly774Val)
|
rs1555075727
|
|
NM_000051.4(ATM):c.2376+3A>G
|
rs758083563
|
|
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu)
|
rs199875915
|
|
NM_000051.4(ATM):c.2567A>G (p.Asn856Ser)
|
rs1555082253
|
|
NM_000051.4(ATM):c.2839-4T>C
|
rs1057522619
|
|
NM_000051.4(ATM):c.2845A>G (p.Met949Val)
|
rs1348704826
|
|
NM_000051.4(ATM):c.2908C>T (p.Leu970=)
|
rs1060504260
|
|
NM_000051.4(ATM):c.2922-4A>G
|
rs1555084924
|
|
NM_000051.4(ATM):c.2989G>A (p.Val997Ile)
|
rs1487902875
|
|
NM_000051.4(ATM):c.3285-5T>C
|
rs876659715
|
|
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg)
|
rs777705500
|
|
NM_000051.4(ATM):c.3400A>G (p.Met1134Val)
|
rs1591632583
|
|
NM_000051.4(ATM):c.3403-3A>C
|
rs374866638
|
|
NM_000051.4(ATM):c.3447T>C (p.Asn1149=)
|
rs763473729
|
|
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val)
|
rs1222634243
|
|
NM_000051.4(ATM):c.3691T>C (p.Leu1231=)
|
rs1210990672
|
|
NM_000051.4(ATM):c.4436+3A>G
|
rs2082686950
|
|
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.4797A>C (p.Ser1599=)
|
rs1371876868
|
|
NM_000051.4(ATM):c.489G>A (p.Gln163=)
|
rs1057523087
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
NM_000051.4(ATM):c.496+4T>G
|
rs587781375
|
|
NM_000051.4(ATM):c.5320-5T>C
|
rs1555106308
|
|
NM_000051.4(ATM):c.5373T>C (p.Asp1791=)
|
rs2135928197
|
|
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile)
|
rs760060843
|
|
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile)
|
rs1468995507
|
|
NM_000051.4(ATM):c.5650A>G (p.Thr1884Ala)
|
rs1555107562
|
|
NM_000051.4(ATM):c.5763A>G (p.Arg1921=)
|
rs1057523784
|
|
NM_000051.4(ATM):c.5897G>A (p.Ser1966Asn)
|
rs1555110520
|
|
NM_000051.4(ATM):c.5917A>C (p.Arg1973=)
|
rs786202089
|
|
NM_000051.4(ATM):c.5926G>A (p.Ala1976Thr)
|
rs2084241683
|
|
NM_000051.4(ATM):c.6095+5del
|
rs1555113628
|
|
NM_000051.4(ATM):c.6338C>T (p.Thr2113Ile)
|
|
|
NM_000051.4(ATM):c.6891A>G (p.Gln2297=)
|
rs773545588
|
|
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
NM_000051.4(ATM):c.720C>T (p.Leu240=)
|
rs1254593530
|
|
NM_000051.4(ATM):c.7570G>T (p.Ala2524Ser)
|
rs769142993
|
|
NM_000051.4(ATM):c.7819T>C (p.Cys2607Arg)
|
rs1459650575
|
|
NM_000051.4(ATM):c.8010+5T>G
|
rs56256497
|
|
NM_000051.4(ATM):c.8211A>T (p.Thr2737=)
|
rs876660946
|
|
NM_000051.4(ATM):c.8268+5C>T
|
rs1565544035
|
|
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)
|
rs587782417
|
|
NM_000051.4(ATM):c.8850+5A>C
|
rs1057522186
|
|
NM_000051.4(ATM):c.8850+5dup
|
rs1400626849
|
|
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)
|
rs1569549841
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr)
|
rs587779885
|
|
NM_000057.4(BLM):c.955C>T (p.Leu319Phe)
|
rs1567036793
|
|
NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala)
|
rs80358395
|
|
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.10187G>A (p.Ser3396Asn)
|
rs889208749
|
|
NM_000059.4(BRCA2):c.10189T>A (p.Ser3397Thr)
|
rs876660044
|
|
NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)
|
rs397507263
|
|
NM_000059.4(BRCA2):c.1232T>C (p.Ile411Thr)
|
rs79597821
|
|
NM_000059.4(BRCA2):c.1591A>G (p.Lys531Glu)
|
rs876659050
|
|
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile)
|
rs587782713
|
|
NM_000059.4(BRCA2):c.1951G>T (p.Asp651Tyr)
|
rs80358482
|
|
NM_000059.4(BRCA2):c.2123C>A (p.Ser708Tyr)
|
rs1593896146
|
|
NM_000059.4(BRCA2):c.2125C>G (p.Leu709Val)
|
rs80358489
|
|
NM_000059.4(BRCA2):c.2150G>A (p.Cys717Tyr)
|
rs1184992634
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
NM_000059.4(BRCA2):c.2490C>A (p.Asn830Lys)
|
rs56331088
|
|
NM_000059.4(BRCA2):c.2492T>C (p.Val831Ala)
|
rs779520270
|
|
NM_000059.4(BRCA2):c.2518A>G (p.Met840Val)
|
rs2072459289
|
|
NM_000059.4(BRCA2):c.2683G>A (p.Ala895Thr)
|
rs786203045
|
|
NM_000059.4(BRCA2):c.2705C>T (p.Ala902Val)
|
rs749258007
|
|
NM_000059.4(BRCA2):c.2761A>G (p.Ile921Val)
|
rs1555282836
|
|
NM_000059.4(BRCA2):c.2875G>A (p.Val959Ile)
|
rs1555282921
|
|
NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn)
|
rs587778119
|
|
NM_000059.4(BRCA2):c.299A>C (p.Lys100Thr)
|
rs2072290145
|
|
NM_000059.4(BRCA2):c.305A>G (p.Lys102Arg)
|
rs80358549
|
|
NM_000059.4(BRCA2):c.3152T>C (p.Leu1051Ser)
|
rs778281493
|
|
NM_000059.4(BRCA2):c.338G>A (p.Arg113Lys)
|
rs876659161
|
|
NM_000059.4(BRCA2):c.3446T>C (p.Met1149Thr)
|
rs80358590
|
|
NM_000059.4(BRCA2):c.3485C>T (p.Ala1162Val)
|
rs587778122
|
|
NM_000059.4(BRCA2):c.3595G>A (p.Asp1199Asn)
|
rs1060502404
|
|
NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp)
|
rs777028631
|
|
NM_000059.4(BRCA2):c.3885A>G (p.Gln1295=)
|
rs876659864
|
|
NM_000059.4(BRCA2):c.4043G>A (p.Cys1348Tyr)
|
rs1307056903
|
|
NM_000059.4(BRCA2):c.4076C>T (p.Thr1359Ile)
|
rs878853578
|
|
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.468T>G (p.Asp156Glu)
|
rs1197305103
|
|
NM_000059.4(BRCA2):c.4862G>A (p.Cys1621Tyr)
|
rs730881534
|
|
NM_000059.4(BRCA2):c.4988T>C (p.Val1663Ala)
|
rs1060502436
|
|
NM_000059.4(BRCA2):c.5165G>A (p.Ser1722Asn)
|
rs773707172
|
|
NM_000059.4(BRCA2):c.5269T>C (p.Tyr1757His)
|
rs2072525454
|
|
NM_000059.4(BRCA2):c.5282G>A (p.Gly1761Glu)
|
rs80358752
|
|
NM_000059.4(BRCA2):c.5345A>G (p.Gln1782Arg)
|
rs758959174
|
|
NM_000059.4(BRCA2):c.5365A>G (p.Lys1789Glu)
|
rs587782240
|
|
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala)
|
rs370252983
|
|
NM_000059.4(BRCA2):c.5479A>G (p.Ile1827Val)
|
rs80358770
|
|
NM_000059.4(BRCA2):c.5535G>C (p.Arg1845Ser)
|
rs786201997
|
|
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.5606G>A (p.Ser1869Asn)
|
rs1555284296
|
|
NM_000059.4(BRCA2):c.5651T>C (p.Ile1884Thr)
|
rs80358788
|
|
NM_000059.4(BRCA2):c.5668A>G (p.Met1890Val)
|
rs80358793
|
|
NM_000059.4(BRCA2):c.5695G>A (p.Asp1899Asn)
|
rs371189402
|
|
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.59A>G (p.Asn20Ser)
|
rs398122544
|
|
NM_000059.4(BRCA2):c.6044T>C (p.Leu2015Ser)
|
rs587776468
|
|
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val)
|
rs786202701
|
|
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)
|
rs80358849
|
|
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg)
|
rs397507366
|
|
NM_000059.4(BRCA2):c.6304G>T (p.Val2102Leu)
|
rs80358869
|
|
NM_000059.4(BRCA2):c.632-3C>A
|
rs568027879
|
|
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu)
|
rs35029074
|
|
NM_000059.4(BRCA2):c.6393A>T (p.Lys2131Asn)
|
rs765669556
|
|
NM_000059.4(BRCA2):c.6479A>G (p.Gln2160Arg)
|
rs587781610
|
|
NM_000059.4(BRCA2):c.6482A>G (p.Asp2161Gly)
|
rs786201744
|
|
NM_000059.4(BRCA2):c.6523G>C (p.Glu2175Gln)
|
rs876658412
|
|
NM_000059.4(BRCA2):c.6568G>A (p.Val2190Ile)
|
rs80358888
|
|
NM_000059.4(BRCA2):c.676A>G (p.Thr226Ala)
|
rs80358902
|
|
NM_000059.4(BRCA2):c.6839T>C (p.Val2280Ala)
|
rs1566235479
|
|
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)
|
rs576279166
|
|
NM_000059.4(BRCA2):c.6916G>C (p.Ala2306Pro)
|
rs730881550
|
|
NM_000059.4(BRCA2):c.6938-15A>G
|
rs587782358
|
|
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)
|
rs876661032
|
|
NM_000059.4(BRCA2):c.7008-5T>C
|
rs397507380
|
|
NM_000059.4(BRCA2):c.7141C>G (p.Pro2381Ala)
|
rs777305503
|
|
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.7373A>G (p.Asn2458Ser)
|
rs786202262
|
|
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.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.7559G>C (p.Arg2520Pro)
|
rs80358982
|
|
NM_000059.4(BRCA2):c.7559G>T (p.Arg2520Leu)
|
rs80358982
|
|
NM_000059.4(BRCA2):c.7580T>C (p.Val2527Ala)
|
rs587782676
|
|
NM_000059.4(BRCA2):c.7598C>G (p.Ser2533Cys)
|
rs80358987
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
NM_000059.4(BRCA2):c.7630G>C (p.Gly2544Arg)
|
rs587781485
|
|
NM_000059.4(BRCA2):c.7648A>G (p.Ile2550Val)
|
rs41293507
|
|
NM_000059.4(BRCA2):c.7744G>A (p.Ala2582Thr)
|
rs876660384
|
|
NM_000059.4(BRCA2):c.7883T>C (p.Ile2628Thr)
|
rs879255465
|
|
NM_000059.4(BRCA2):c.7895C>T (p.Ala2632Val)
|
rs765839296
|
|
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.7924T>C (p.Phe2642Leu)
|
rs1555286856
|
|
NM_000059.4(BRCA2):c.7925T>G (p.Phe2642Cys)
|
rs1287337540
|
|
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.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
NM_000059.4(BRCA2):c.7993G>T (p.Asp2665Tyr)
|
rs921017191
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
NM_000059.4(BRCA2):c.8011G>T (p.Ala2671Ser)
|
rs786201976
|
|
NM_000059.4(BRCA2):c.8039A>G (p.Asp2680Gly)
|
rs80359042
|
|
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.814A>G (p.Asn272Asp)
|
rs398122598
|
|
NM_000059.4(BRCA2):c.8182G>C (p.Val2728Leu)
|
rs28897749
|
|
NM_000059.4(BRCA2):c.8192A>G (p.Gln2731Arg)
|
rs753837544
|
|
NM_000059.4(BRCA2):c.8233C>G (p.Leu2745Val)
|
rs786201752
|
|
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.8309C>A (p.Ala2770Asp)
|
rs28897750
|
|
NM_000059.4(BRCA2):c.8321T>C (p.Leu2774Pro)
|
rs786203278
|
|
NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg)
|
rs80359073
|
|
NM_000059.4(BRCA2):c.8368A>T (p.Thr2790Ser)
|
rs80359081
|
|
NM_000059.4(BRCA2):c.8398C>T (p.Pro2800Ser)
|
rs80359086
|
|
NM_000059.4(BRCA2):c.8447G>A (p.Gly2816Asp)
|
rs56096120
|
|
NM_000059.4(BRCA2):c.8479C>G (p.Pro2827Ala)
|
rs786202484
|
|
NM_000059.4(BRCA2):c.8525G>T (p.Arg2842Leu)
|
rs80359105
|
|
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)
|
rs755783122
|
|
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.8572C>A (p.Gln2858Lys)
|
rs80359112
|
|
NM_000059.4(BRCA2):c.8593T>G (p.Leu2865Val)
|
rs80359117
|
|
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)
|
rs766173
|
|
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val)
|
rs398122712
|
|
NM_000059.4(BRCA2):c.8766T>G (p.Ser2922Arg)
|
rs1060502497
|
|
NM_000059.4(BRCA2):c.8775G>C (p.Gln2925His)
|
rs80359136
|
|
NM_000059.4(BRCA2):c.8854A>G (p.Met2952Val)
|
rs397508016
|
|
NM_000059.4(BRCA2):c.8897T>C (p.Val2966Ala)
|
rs876658955
|
|
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys)
|
rs139052578
|
|
NM_000059.4(BRCA2):c.9043A>G (p.Lys3015Glu)
|
rs587781497
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
NM_000059.4(BRCA2):c.905C>T (p.Thr302Ile)
|
rs80359158
|
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
rs80359165
|
|
NM_000059.4(BRCA2):c.9160C>T (p.Pro3054Ser)
|
rs786204070
|
|
NM_000059.4(BRCA2):c.9205T>G (p.Cys3069Gly)
|
rs398122611
|
|
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.9286G>A (p.Glu3096Lys)
|
rs80359199
|
|
NM_000059.4(BRCA2):c.9307A>G (p.Ile3103Val)
|
rs80359203
|
|
NM_000059.4(BRCA2):c.9320T>C (p.Ile3107Thr)
|
rs397507425
|
|
NM_000059.4(BRCA2):c.9334G>A (p.Asp3112Asn)
|
rs759851035
|
|
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)
|
rs276174923
|
|
NM_000059.4(BRCA2):c.9403C>A (p.Leu3135Ile)
|
rs55704151
|
|
NM_000059.4(BRCA2):c.9433G>A (p.Val3145Met)
|
rs587776476
|
|
NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser)
|
rs1555289773
|
|
NM_000059.4(BRCA2):c.9584C>T (p.Thr3195Ile)
|
rs431825376
|
|
NM_000059.4(BRCA2):c.9604C>T (p.Pro3202Ser)
|
rs1555289789
|
|
NM_000059.4(BRCA2):c.9620T>C (p.Ile3207Thr)
|
rs876658942
|
|
NM_000059.4(BRCA2):c.9651G>A (p.Met3217Ile)
|
rs431825379
|
|
NM_000059.4(BRCA2):c.971G>A (p.Arg324Lys)
|
rs397507435
|
|
NM_000059.4(BRCA2):c.9785A>C (p.Gln3262Pro)
|
rs1566261012
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)
|
rs587780668
|
|
NM_000077.5(CDKN2A):c.123G>A (p.Pro41=)
|
rs754366579
|
|
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val)
|
rs372266620
|
|
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.319C>T (p.Arg107Cys)
|
rs1554654024
|
|
NM_000077.5(CDKN2A):c.434T>C (p.Ile145Thr)
|
rs730881680
|
|
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=)
|
rs759665341
|
|
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=)
|
rs1555572418
|
|
NM_000088.4(COL1A1):c.516C>T (p.Thr172=)
|
rs377195143
|
|
NM_000088.4(COL1A1):c.6C>T (p.Phe2=)
|
|
|
NM_000089.4(COL1A2):c.880G>T (p.Val294Phe)
|
rs145693444
|
|
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu)
|
rs886038983
|
|
NM_000117.3(EMD):c.144C>G (p.Leu48=)
|
rs200537612
|
|
NM_000117.3(EMD):c.460A>G (p.Met154Val)
|
rs782806462
|
|
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)
|
rs368737502
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000143.4(FH):c.240G>A (p.Lys80=)
|
rs1573888362
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1434G>A (p.Gly478=)
|
rs886043285
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
NM_000179.3(MSH6):c.1069G>A (p.Asp357Asn)
|
rs771529531
|
|
NM_000179.3(MSH6):c.117G>A (p.Gly39=)
|
rs756673077
|
|
NM_000179.3(MSH6):c.1513T>C (p.Tyr505His)
|
rs1558661932
|
|
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.2075A>G (p.Lys692Arg)
|
rs975991506
|
|
NM_000179.3(MSH6):c.2155A>G (p.Thr719Ala)
|
|
|
NM_000179.3(MSH6):c.2171C>G (p.Ala724Gly)
|
rs587779922
|
|
NM_000179.3(MSH6):c.2179A>G (p.Thr727Ala)
|
rs761930694
|
|
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.2282G>A (p.Arg761Lys)
|
rs587779233
|
|
NM_000179.3(MSH6):c.2479A>G (p.Asn827Asp)
|
rs878853716
|
|
NM_000179.3(MSH6):c.251C>T (p.Ala84Val)
|
rs878853717
|
|
NM_000179.3(MSH6):c.255C>G (p.Pro85=)
|
rs587779242
|
|
NM_000179.3(MSH6):c.2584C>T (p.Leu862=)
|
rs1187393388
|
|
NM_000179.3(MSH6):c.2622C>T (p.Ile874=)
|
rs1200093419
|
|
NM_000179.3(MSH6):c.2879A>G (p.Asn960Ser)
|
rs746341645
|
|
NM_000179.3(MSH6):c.2919T>C (p.Gly973=)
|
rs1057522150
|
|
NM_000179.3(MSH6):c.3029C>G (p.Thr1010Ser)
|
rs768925694
|
|
NM_000179.3(MSH6):c.3079G>C (p.Val1027Leu)
|
rs876658397
|
|
NM_000179.3(MSH6):c.3173-4A>C
|
rs1437555847
|
|
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.3364C>G (p.Gln1122Glu)
|
rs1060502892
|
|
NM_000179.3(MSH6):c.3843G>A (p.Glu1281=)
|
rs864622384
|
|
NM_000179.3(MSH6):c.3969_4001+52dup
|
rs1553333718
|
|
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln)
|
rs184131049
|
|
NM_000179.3(MSH6):c.4001+5C>T
|
rs786202305
|
|
NM_000179.3(MSH6):c.4082del (p.Leu1360_Ter1361insTer)
|
rs1553334124
|
|
NM_000179.3(MSH6):c.457+3A>G
|
rs1060502921
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
NM_000179.3(MSH6):c.921T>C (p.Asn307=)
|
rs876659492
|
|
NM_000179.3(MSH6):c.968C>T (p.Thr323Ile)
|
rs777890307
|
|
NM_000179.3(MSH6):c.975A>G (p.Gln325=)
|
rs193922345
|
|
NM_000179.3(MSH6):c.982A>G (p.Ser328Gly)
|
rs1572721137
|
|
NM_000214.3(JAG1):c.294C>G (p.Ser98=)
|
rs79338570
|
|
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)
|
rs112113213
|
|
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)
|
rs11601907
|
|
NM_000218.3(KCNQ1):c.879C>A (p.Arg293=)
|
rs181106858
|
|
NM_000218.3(KCNQ1):c.960C>T (p.Pro320=)
|
|
|
NM_000229.2(LCAT):c.1310C>T (p.Pro437Leu)
|
|
|
NM_000229.2(LCAT):c.8C>T (p.Pro3Leu)
|
|
|
NM_000235.4(LIPA):c.1032C>G (p.His344Gln)
|
rs779601441
|
|
NM_000235.4(LIPA):c.615C>G (p.Ser205=)
|
rs143930279
|
|
NM_000235.4(LIPA):c.615C>T (p.Ser205=)
|
rs143930279
|
|
NM_000235.4(LIPA):c.618C>T (p.Val206=)
|
rs763651849
|
|
NM_000235.4(LIPA):c.885C>T (p.His295=)
|
rs886044197
|
|
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)
|
rs144926928
|
|
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys)
|
rs143512106
|
|
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala)
|
rs199473009
|
|
NM_000249.4(MLH1):c.1075A>T (p.Met359Leu)
|
rs1553650626
|
|
NM_000249.4(MLH1):c.1123A>G (p.Ser375Gly)
|
rs1060500694
|
|
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys)
|
rs143009528
|
|
NM_000249.4(MLH1):c.1185A>G (p.Ala395=)
|
rs878853774
|
|
NM_000249.4(MLH1):c.1231A>G (p.Ile411Val)
|
rs535470039
|
|
NM_000249.4(MLH1):c.1318G>A (p.Val440Met)
|
rs864622250
|
|
NM_000249.4(MLH1):c.1331A>G (p.Asn444Ser)
|
rs763189331
|
|
NM_000249.4(MLH1):c.1410-4G>T
|
rs1057520517
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
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.1667+4A>G
|
rs983986337
|
|
NM_000249.4(MLH1):c.1668-4del
|
rs764870822
|
|
NM_000249.4(MLH1):c.2155A>G (p.Ile719Val)
|
rs754225520
|
|
NM_000249.4(MLH1):c.2173C>T (p.Arg725Cys)
|
rs138584384
|
|
NM_000249.4(MLH1):c.399A>G (p.Gly133=)
|
rs1559521083
|
|
NM_000249.4(MLH1):c.478G>T (p.Ala160Ser)
|
rs876659332
|
|
NM_000249.4(MLH1):c.479C>T (p.Ala160Val)
|
rs63749924
|
|
NM_000249.4(MLH1):c.553G>A (p.Val185Ile)
|
rs63750012
|
|
NM_000249.4(MLH1):c.7T>C (p.Phe3Leu)
|
rs878853790
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
NM_000251.3(MSH2):c.1009C>G (p.Gln337Glu)
|
rs63750778
|
|
NM_000251.3(MSH2):c.1027A>G (p.Asn343Asp)
|
rs587779961
|
|
NM_000251.3(MSH2):c.103C>G (p.Arg35Gly)
|
rs1060502034
|
|
NM_000251.3(MSH2):c.1053G>C (p.Met351Ile)
|
rs373122667
|
|
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.1082A>G (p.Asn361Ser)
|
rs587779072
|
|
NM_000251.3(MSH2):c.1109C>T (p.Ala370Val)
|
|
|
NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser)
|
rs730881755
|
|
NM_000251.3(MSH2):c.1192G>A (p.Ala398Thr)
|
rs988252817
|
|
NM_000251.3(MSH2):c.1204C>G (p.Gln402Glu)
|
rs63751412
|
|
NM_000251.3(MSH2):c.1208A>G (p.Asp403Gly)
|
|
|
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.1281A>T (p.Lys427Asn)
|
rs1553361147
|
|
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.1321A>T (p.Thr441Ser)
|
rs587779086
|
|
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.1387-5T>C
|
rs757458333
|
|
NM_000251.3(MSH2):c.1387G>A (p.Val463Met)
|
rs1064793825
|
|
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.1413A>C (p.Lys471Asn)
|
rs745874745
|
|
NM_000251.3(MSH2):c.1429A>T (p.Asn477Tyr)
|
rs587781346
|
|
NM_000251.3(MSH2):c.1483A>G (p.Thr495Ala)
|
rs730881757
|
|
NM_000251.3(MSH2):c.149C>A (p.Ala50Glu)
|
rs876658582
|
|
NM_000251.3(MSH2):c.14C>G (p.Pro5Arg)
|
rs56170584
|
|
NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn)
|
rs373564353
|
|
NM_000251.3(MSH2):c.1549G>A (p.Ala517Thr)
|
rs1553366545
|
|
NM_000251.3(MSH2):c.1577C>T (p.Thr526Ile)
|
rs1204369578
|
|
NM_000251.3(MSH2):c.1595T>C (p.Val532Ala)
|
rs754778750
|
|
NM_000251.3(MSH2):c.1607A>G (p.Asn536Ser)
|
rs201722703
|
|
NM_000251.3(MSH2):c.160G>A (p.Ala54Thr)
|
rs749212640
|
|
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.1625T>C (p.Val542Ala)
|
rs1553366630
|
|
NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys)
|
rs63750538
|
|
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.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.1688A>G (p.Tyr563Cys)
|
rs63751054
|
|
NM_000251.3(MSH2):c.1703C>G (p.Thr568Arg)
|
rs1285862035
|
|
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.1761C>G (p.Gly587=)
|
rs920449426
|
|
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.1789G>A (p.Asp597Asn)
|
rs765442101
|
|
NM_000251.3(MSH2):c.1798G>T (p.Ala600Ser)
|
rs587778526
|
|
NM_000251.3(MSH2):c.1803G>C (p.Gln601His)
|
rs1553368556
|
|
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.1821C>G (p.Ser607Arg)
|
|
|
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.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>A (p.Gly62Arg)
|
rs767140240
|
|
NM_000251.3(MSH2):c.184G>C (p.Gly62Arg)
|
rs767140240
|
|
NM_000251.3(MSH2):c.1852C>G (p.Pro618Ala)
|
rs1573566801
|
|
NM_000251.3(MSH2):c.1882G>C (p.Gly628Arg)
|
rs371776176
|
|
NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)
|
rs1361816581
|
|
NM_000251.3(MSH2):c.1910C>G (p.Ser637Cys)
|
rs1064795992
|
|
NM_000251.3(MSH2):c.192C>A (p.Ile64=)
|
rs1395172053
|
|
NM_000251.3(MSH2):c.1935A>C (p.Gln645His)
|
rs587780684
|
|
NM_000251.3(MSH2):c.1945G>A (p.Ala649Thr)
|
rs786201822
|
|
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.1986G>C (p.Gln662His)
|
rs587780685
|
|
NM_000251.3(MSH2):c.1993C>T (p.His665Tyr)
|
rs1573567600
|
|
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.206C>G (p.Pro69Arg)
|
rs983555044
|
|
NM_000251.3(MSH2):c.2072T>C (p.Ile691Thr)
|
rs754824872
|
|
NM_000251.3(MSH2):c.207G>T (p.Pro69=)
|
rs1295445617
|
|
NM_000251.3(MSH2):c.20A>C (p.Glu7Ala)
|
rs530071578
|
|
NM_000251.3(MSH2):c.20A>G (p.Glu7Gly)
|
rs530071578
|
|
NM_000251.3(MSH2):c.2108C>G (p.Ser703Cys)
|
rs267607999
|
|
NM_000251.3(MSH2):c.211+3G>T
|
rs778940305
|
|
NM_000251.3(MSH2):c.2120G>C (p.Cys707Ser)
|
rs373226409
|
|
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.2160A>G (p.Lys720=)
|
rs2104376970
|
|
NM_000251.3(MSH2):c.2201C>G (p.Ser734Cys)
|
rs1553369204
|
|
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.2260A>G (p.Thr754Ala)
|
rs757268664
|
|
NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)
|
rs757268664
|
|
NM_000251.3(MSH2):c.2268C>G (p.Thr756=)
|
rs1404389752
|
|
NM_000251.3(MSH2):c.2294C>T (p.Ala765Val)
|
rs1261458082
|
|
NM_000251.3(MSH2):c.2298A>G (p.Ile766Met)
|
rs1064795116
|
|
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)
|
rs878853811
|
|
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.2380A>C (p.Ile794Leu)
|
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.2439G>C (p.Met813Ile)
|
rs587781678
|
|
NM_000251.3(MSH2):c.2457A>G (p.Lys819=)
|
rs774152293
|
|
NM_000251.3(MSH2):c.2491G>T (p.Ala831Ser)
|
rs1573578511
|
|
NM_000251.3(MSH2):c.2509C>T (p.Pro837Ser)
|
rs1198289499
|
|
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.2533A>G (p.Lys845Glu)
|
rs63750571
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_000251.3(MSH2):c.2582A>T (p.Gln861Leu)
|
rs1313098392
|
|
NM_000251.3(MSH2):c.2587T>C (p.Tyr863His)
|
rs1573579032
|
|
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.263T>C (p.Phe88Ser)
|
rs1672553516
|
|
NM_000251.3(MSH2):c.2681T>C (p.Met894Thr)
|
rs1558526026
|
|
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.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)
|
|
|
NM_000251.3(MSH2):c.272A>C (p.Asp91Ala)
|
|
|
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.2776A>G (p.Ile926Val)
|
rs995312903
|
|
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.308A>G (p.Tyr103Cys)
|
rs63751173
|
|
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.383T>G (p.Leu128Arg)
|
rs730881768
|
|
NM_000251.3(MSH2):c.398A>G (p.Asp133Gly)
|
rs984353312
|
|
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)
|
rs193096019
|
|
NM_000251.3(MSH2):c.433A>G (p.Ile145Val)
|
rs876659264
|
|
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.470G>C (p.Gly157Ala)
|
rs765489269
|
|
NM_000251.3(MSH2):c.496G>A (p.Val166Met)
|
rs1672668358
|
|
NM_000251.3(MSH2):c.54C>T (p.Gly18=)
|
rs63750777
|
|
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.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.638T>A (p.Leu213Gln)
|
rs1553350974
|
|
NM_000251.3(MSH2):c.640A>G (p.Arg214Gly)
|
rs1553350980
|
|
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.698C>G (p.Ser233Cys)
|
rs587781724
|
|
NM_000251.3(MSH2):c.700A>T (p.Thr234Ser)
|
rs1212577306
|
|
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.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.75C>T (p.Gly25=)
|
rs1465620610
|
|
NM_000251.3(MSH2):c.776C>T (p.Pro259Leu)
|
rs866818044
|
|
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>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.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.89C>T (p.Pro30Leu)
|
rs757892928
|
|
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.911T>C (p.Ile304Thr)
|
rs1021303606
|
|
NM_000251.3(MSH2):c.923G>C (p.Arg308Thr)
|
rs1553352545
|
|
NM_000251.3(MSH2):c.932A>C (p.Asn311Thr)
|
|
|
NM_000251.3(MSH2):c.956A>G (p.Asp319Gly)
|
rs786204185
|
|
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)
|
rs4987188
|
|
NM_000251.3(MSH2):c.97A>G (p.Thr33Ala)
|
rs63751107
|
|
NM_000251.3(MSH2):c.982G>A (p.Ala328Thr)
|
rs753237286
|
|
NM_000256.3(MYBPC3):c.1822C>T (p.Pro608Ser)
|
rs730880552
|
|
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser)
|
rs771753579
|
|
NM_000256.3(MYBPC3):c.2504_2505delinsTT (p.Arg835Leu)
|
rs1595843667
|
|
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu)
|
rs551888783
|
|
NM_000257.4(MYH7):c.1755C>T (p.Ile585=)
|
rs201860580
|
|
NM_000257.4(MYH7):c.3927C>A (p.Thr1309=)
|
rs1430666956
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
|
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)
|
rs777053791
|
|
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
|
|
|
NM_000264.5(PTCH1):c.2215_2216delinsTT (p.His739Phe)
|
rs864622295
|
|
NM_000264.5(PTCH1):c.2634C>A (p.Asp878Glu)
|
rs771732591
|
|
NM_000264.5(PTCH1):c.4087G>C (p.Gly1363Arg)
|
rs767625820
|
|
NM_000314.8(PTEN):c.1005A>G (p.Arg335=)
|
rs1303065649
|
|
NM_000314.8(PTEN):c.174T>C (p.Asp58=)
|
rs769719835
|
|
NM_000314.8(PTEN):c.209+3A>G
|
rs786202612
|
|
NM_000314.8(PTEN):c.228T>C (p.Tyr76=)
|
rs1554897866
|
|
NM_000314.8(PTEN):c.253+4_253+7del
|
rs876659695
|
|
NM_000314.8(PTEN):c.759C>T (p.Ile253=)
|
rs752250585
|
|
NM_000314.8(PTEN):c.80-5C>T
|
rs1060503842
|
|
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys)
|
rs752130196
|
|
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)
|
rs730880211
|
|
NM_000335.5(SCN5A):c.2103G>T (p.Pro701=)
|
|
|
NM_000335.5(SCN5A):c.331T>C (p.Leu111=)
|
|
|
NM_000335.5(SCN5A):c.483G>A (p.Glu161=)
|
rs2062306921
|
|
NM_000335.5(SCN5A):c.5452_5454delinsAAC (p.Asp1818Asn)
|
rs2061022221
|
|
NM_000335.5(SCN5A):c.5648C>T (p.Pro1883Leu)
|
rs755162776
|
|
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)
|
rs41315493
|
|
NM_000335.5(SCN5A):c.5855G>A (p.Ser1952Asn)
|
rs781270220
|
|
NM_000335.5(SCN5A):c.5987A>G (p.His1996Arg)
|
|
|
NM_000368.5(TSC1):c.2103G>A (p.Gln701=)
|
rs118203639
|
|
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)
|
rs761281095
|
|
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr)
|
rs533565295
|
|
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg)
|
rs1554812543
|
|
NM_000368.5(TSC1):c.792G>A (p.Leu264=)
|
rs1257538409
|
|
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
|
|
|
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del)
|
rs562574661
|
|
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
|
|
|
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
|
|
|
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn)
|
rs375894411
|
|
NM_000384.3(APOB):c.4676C>T (p.Ala1559Val)
|
rs549741449
|
|
NM_000384.3(APOB):c.4754A>T (p.Asn1585Ile)
|
rs549983245
|
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
|
|
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
|
|
|
NM_000455.5(STK11):c.1045GAGGAC[1] (p.349ED[1])
|
rs762810203
|
|
NM_000455.5(STK11):c.1109-4C>A
|
rs1407794756
|
|
NM_000455.5(STK11):c.1129G>C (p.Ala377Pro)
|
rs768870802
|
|
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly)
|
rs368466538
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
NM_000455.5(STK11):c.1276C>G (p.Arg426Gly)
|
rs587782687
|
|
NM_000455.5(STK11):c.397G>A (p.Val133Met)
|
rs567769257
|
|
NM_000455.5(STK11):c.399G>A (p.Val133=)
|
rs757021648
|
|
NM_000455.5(STK11):c.440G>A (p.Arg147His)
|
rs587780717
|
|
NM_000455.5(STK11):c.617C>T (p.Ala206Val)
|
rs764244639
|
|
NM_000455.5(STK11):c.842C>A (p.Pro281Gln)
|
rs121913322
|
|
NM_000455.5(STK11):c.863-5_863-3del
|
rs764739106
|
|
NM_000455.5(STK11):c.940C>T (p.Pro314Ser)
|
rs758416485
|
|
NM_000458.4(HNF1B):c.1338A>G (p.Gln446=)
|
rs776536485
|
|
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.1070T>C (p.Ile357Thr)
|
rs587781555
|
|
NM_000465.4(BARD1):c.1136A>G (p.Lys379Arg)
|
rs750827325
|
|
NM_000465.4(BARD1):c.1147A>T (p.Met383Leu)
|
rs761516178
|
|
NM_000465.4(BARD1):c.1216C>G (p.Arg406Gly)
|
rs377153250
|
|
NM_000465.4(BARD1):c.1598A>T (p.Tyr533Phe)
|
rs761673463
|
|
NM_000465.4(BARD1):c.1822G>A (p.Val608Ile)
|
rs778987552
|
|
NM_000465.4(BARD1):c.1989C>T (p.Asn663=)
|
rs587782767
|
|
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.2191C>T (p.Arg731Cys)
|
rs76744638
|
|
NM_000465.4(BARD1):c.2192G>A (p.Arg731His)
|
rs587782248
|
|
NM_000465.4(BARD1):c.521G>A (p.Ser174Asn)
|
rs1277839212
|
|
NM_000465.4(BARD1):c.86A>C (p.Asp29Ala)
|
rs777491507
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1077A>G (p.Gln359=)
|
rs761324191
|
|
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
|
rs4727853
|
|
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)
|
rs62469440
|
|
NM_000492.4(CFTR):c.1278C>T (p.Asp426=)
|
rs2896225
|
|
NM_000492.4(CFTR):c.1311T>C (p.Gly437=)
|
rs1562895049
|
|
NM_000492.4(CFTR):c.1317T>G (p.Pro439=)
|
rs1562895052
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1602A>G (p.Ala534=)
|
rs1584810152
|
|
NM_000492.4(CFTR):c.164+9A>T
|
rs397508245
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.2001C>T (p.His667=)
|
rs772786141
|
|
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala)
|
rs762888022
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
NM_000492.4(CFTR):c.2907A>G (p.Ala969=)
|
|
|
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)
|
rs371475225
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
NM_000492.4(CFTR):c.4327C>T (p.Pro1443Ser)
|
rs1336644939
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
NM_000535.7(PMS2):c.1068G>A (p.Lys356=)
|
rs528499793
|
|
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly)
|
rs1583321782
|
|
NM_000535.7(PMS2):c.1423G>A (p.Val475Met)
|
rs864622579
|
|
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)
|
rs1805323
|
|
NM_000535.7(PMS2):c.1457A>G (p.Asp486Gly)
|
rs899935666
|
|
NM_000535.7(PMS2):c.1554G>C (p.Glu518Asp)
|
rs1562630820
|
|
NM_000535.7(PMS2):c.1574G>A (p.Gly525Glu)
|
|
|
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr)
|
rs757989905
|
|
NM_000535.7(PMS2):c.1733G>A (p.Arg578His)
|
rs63750770
|
|
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.1795G>A (p.Asp599Asn)
|
rs1380574195
|
|
NM_000535.7(PMS2):c.1906G>A (p.Ala636Thr)
|
rs876658863
|
|
NM_000535.7(PMS2):c.2083A>C (p.Ile695Leu)
|
rs1313824270
|
|
NM_000535.7(PMS2):c.2505G>T (p.Gly835=)
|
rs1583269666
|
|
NM_000535.7(PMS2):c.321G>T (p.Arg107=)
|
rs756420858
|
|
NM_000535.7(PMS2):c.406A>G (p.Met136Val)
|
|
|
NM_000535.7(PMS2):c.60G>C (p.Arg20=)
|
rs1554306548
|
|
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser)
|
rs878854055
|
|
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu)
|
rs375507981
|
|
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.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.103T>A (p.Leu35Met)
|
rs1060501211
|
|
NM_000546.6(TP53):c.1054G>T (p.Asp352Tyr)
|
rs1555524394
|
|
NM_000546.6(TP53):c.1064C>T (p.Ala355Val)
|
rs1555524382
|
|
NM_000546.6(TP53):c.1072G>A (p.Glu358Lys)
|
rs587782237
|
|
NM_000546.6(TP53):c.107C>A (p.Pro36Gln)
|
rs587781866
|
|
NM_000546.6(TP53):c.1093C>T (p.His365Tyr)
|
rs267605075
|
|
NM_000546.6(TP53):c.1104C>A (p.His368Gln)
|
rs1289241865
|
|
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.1130C>T (p.Thr377Ile)
|
rs1597345549
|
|
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.116C>T (p.Ala39Val)
|
rs1353016807
|
|
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.118A>G (p.Met40Val)
|
rs1597375159
|
|
NM_000546.6(TP53):c.11C>G (p.Pro4Arg)
|
rs878854064
|
|
NM_000546.6(TP53):c.11C>T (p.Pro4Leu)
|
rs878854064
|
|
NM_000546.6(TP53):c.121G>A (p.Asp41Asn)
|
rs1555526789
|
|
NM_000546.6(TP53):c.125A>G (p.Asp42Gly)
|
rs587781767
|
|
NM_000546.6(TP53):c.132G>A (p.Met44Ile)
|
rs1060501190
|
|
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.183T>A (p.Asp61Glu)
|
rs1597374797
|
|
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)
|
|
|
NM_000546.6(TP53):c.229C>A (p.Pro77Thr)
|
rs753085009
|
|
NM_000546.6(TP53):c.22C>A (p.Pro8Thr)
|
rs1597376589
|
|
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.248C>A (p.Ala83Glu)
|
rs201717599
|
|
NM_000546.6(TP53):c.256G>C (p.Ala86Pro)
|
|
|
NM_000546.6(TP53):c.257C>T (p.Ala86Val)
|
rs1597374264
|
|
NM_000546.6(TP53):c.263C>T (p.Ala88Val)
|
rs1555526631
|
|
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.27C>G (p.Ser9Arg)
|
rs757282628
|
|
NM_000546.6(TP53):c.28G>C (p.Val10Leu)
|
rs535274413
|
|
NM_000546.6(TP53):c.305C>T (p.Thr102Ile)
|
rs786202717
|
|
NM_000546.6(TP53):c.343C>A (p.His115Asn)
|
rs1555526532
|
|
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.364G>A (p.Val122Met)
|
rs587781495
|
|
NM_000546.6(TP53):c.376-4A>T
|
rs1221388024
|
|
NM_000546.6(TP53):c.382C>A (p.Pro128Thr)
|
rs1555526327
|
|
NM_000546.6(TP53):c.385G>A (p.Ala129Thr)
|
rs1438095083
|
|
NM_000546.6(TP53):c.548C>T (p.Ser183Leu)
|
rs1555525970
|
|
NM_000546.6(TP53):c.604C>G (p.Arg202Gly)
|
rs587780072
|
|
NM_000546.6(TP53):c.605G>A (p.Arg202His)
|
rs587778719
|
|
NM_000546.6(TP53):c.625A>G (p.Arg209Gly)
|
rs1429743956
|
|
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.698A>G (p.His233Arg)
|
rs879254233
|
|
NM_000546.6(TP53):c.779C>A (p.Ser260Tyr)
|
rs876658916
|
|
NM_000546.6(TP53):c.79C>A (p.Pro27Thr)
|
rs922736614
|
|
NM_000546.6(TP53):c.7G>A (p.Glu3Lys)
|
rs2073524362
|
|
NM_000546.6(TP53):c.83A>T (p.Glu28Val)
|
rs786202289
|
|
NM_000546.6(TP53):c.859G>A (p.Glu287Lys)
|
rs587782006
|
|
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.877G>A (p.Gly293Arg)
|
rs587780076
|
|
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.905G>A (p.Gly302Glu)
|
rs1060501202
|
|
NM_000546.6(TP53):c.908G>A (p.Ser303Asn)
|
rs876658714
|
|
NM_000546.6(TP53):c.919+3A>G
|
rs876659784
|
|
NM_000546.6(TP53):c.930C>A (p.Asn310Lys)
|
rs876660829
|
|
NM_000546.6(TP53):c.941C>T (p.Ser314Phe)
|
rs751440465
|
|
NM_000546.6(TP53):c.946C>T (p.Pro316Ser)
|
rs772773208
|
|
NM_000546.6(TP53):c.947C>T (p.Pro316Leu)
|
rs1555524979
|
|
NM_000546.6(TP53):c.953C>T (p.Pro318Leu)
|
rs1555524975
|
|
NM_000546.6(TP53):c.964C>T (p.Pro322Ser)
|
rs863224687
|
|
NM_000546.6(TP53):c.97-3C>T
|
rs786203749
|
|
NM_000546.6(TP53):c.97-4A>T
|
rs746791390
|
|
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.98C>A (p.Ser33Tyr)
|
rs1555526832
|
|
NM_000546.6(TP53):c.997C>T (p.Arg333Cys)
|
rs769934890
|
|
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys)
|
rs397515187
|
|
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn)
|
rs376573446
|
|
NM_000548.5(TSC2):c.1729A>G (p.Thr577Ala)
|
rs1204749633
|
|
NM_000548.5(TSC2):c.1946+5G>T
|
rs766646261
|
|
NM_000548.5(TSC2):c.2152C>T (p.Arg718Cys)
|
rs182538665
|
|
NM_000548.5(TSC2):c.2452A>G (p.Ile818Val)
|
rs1596356585
|
|
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)
|
rs397515077
|
|
NM_000548.5(TSC2):c.264G>A (p.Leu88=)
|
rs1466279830
|
|
NM_000548.5(TSC2):c.339C>T (p.Gly113=)
|
rs368451664
|
|
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile)
|
rs751203255
|
|
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr)
|
rs147719291
|
|
NM_000548.5(TSC2):c.4351C>T (p.Arg1451Cys)
|
rs369553241
|
|
NM_000548.5(TSC2):c.4368C>T (p.Leu1456=)
|
rs1555514397
|
|
NM_000548.5(TSC2):c.4992C>T (p.Gly1664=)
|
rs145002269
|
|
NM_000548.5(TSC2):c.775-5C>G
|
rs181827303
|
|
NM_000548.5(TSC2):c.833A>G (p.His278Arg)
|
rs397515266
|
|
NM_000551.4(VHL):c.131G>A (p.Gly44Asp)
|
rs1056226386
|
|
NM_000551.4(VHL):c.385C>G (p.Leu129Val)
|
rs369018004
|
|
NM_000551.4(VHL):c.3G>A (p.Met1Ile)
|
rs578091032
|
|
NM_000551.4(VHL):c.3G>T (p.Met1Ile)
|
rs578091032
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
NM_000719.7(CACNA1C):c.3462C>A (p.Ala1154=)
|
|
|
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr)
|
rs367895193
|
|
NM_000719.7(CACNA1C):c.447A>G (p.Glu149=)
|
rs1297869395
|
|
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)
|
rs199538058
|
|
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro)
|
rs201918158
|
|
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=)
|
rs771343931
|
|
NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu)
|
rs886043512
|
|
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=)
|
rs1187804477
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met)
|
rs770909247
|
|
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=)
|
rs1956373944
|
|
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala)
|
rs756376477
|
|
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)
|
rs200069860
|
|
NM_001042492.3(NF1):c.2002-4_2002-3del
|
rs786203664
|
|
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)
|
rs371817372
|
|
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)
|
rs759679443
|
|
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile)
|
rs786202478
|
|
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile)
|
rs587782772
|
|
NM_001042492.3(NF1):c.2851-3del
|
rs876660379
|
|
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser)
|
rs557875547
|
|
NM_001042492.3(NF1):c.6717A>G (p.Gln2239=)
|
rs2069724967
|
|
NM_001042492.3(NF1):c.6819+5C>A
|
rs876659499
|
|
NM_001042492.3(NF1):c.7190-5del
|
rs769290414
|
|
NM_001042492.3(NF1):c.7815G>A (p.Leu2605=)
|
rs1555536703
|
|
NM_001042492.3(NF1):c.7869A>G (p.Leu2623=)
|
rs876659536
|
|
NM_001042492.3(NF1):c.8161-3C>T
|
rs786203684
|
|
NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr)
|
rs199878086
|
|
NM_001048174.2(MUTYH):c.1239G>A (p.Glu413=)
|
rs587782564
|
|
NM_001048174.2(MUTYH):c.1240-8_1240-5del
|
rs781479684
|
|
NM_001048174.2(MUTYH):c.1349A>G (p.Gln450Arg)
|
rs774607582
|
|
NM_001048174.2(MUTYH):c.1393-4C>G
|
rs1553124158
|
|
NM_001048174.2(MUTYH):c.277A>G (p.Met93Val)
|
rs1553129862
|
|
NM_001048174.2(MUTYH):c.699G>C (p.Gln233His)
|
rs765339120
|
|
NM_001048174.2(MUTYH):c.699G>T (p.Gln233His)
|
rs765339120
|
|
NM_001048174.2(MUTYH):c.914-5C>G
|
rs786203632
|
|
NM_001077653.2(TBX20):c.549C>G (p.Leu183=)
|
rs1463237905
|
|
NM_001079802.2(FKTN):c.1179G>C (p.Leu393=)
|
rs369117043
|
|
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile)
|
rs374912618
|
|
NM_001079802.2(FKTN):c.766C>A (p.Arg256=)
|
rs377417974
|
|
NM_001080477.4(TENM3):c.1441G>A (p.Gly481Ser)
|
|
|
NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys)
|
|
|
NM_001105206.3(LAMA4):c.3166G>A (p.Gly1056Ser)
|
rs145321940
|
|
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)
|
rs1060501425
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])
|
rs747175358
|
|
NM_001128425.2(MUTYH):c.188G>A (p.Gly63Glu)
|
rs763693540
|
|
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3])
|
rs1204097562
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)
|
rs397516603
|
|
NM_001134363.3(RBM20):c.2868C>A (p.Asp956Glu)
|
rs1554843535
|
|
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala)
|
rs540014314
|
|
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr)
|
rs147356378
|
|
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu)
|
rs77110978
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
NM_001148.6(ANK2):c.10362G>C (p.Arg3454Ser)
|
rs55726422
|
|
NM_001148.6(ANK2):c.10976G>A (p.Arg3659His)
|
rs556640912
|
|
NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu)
|
rs556640912
|
|
NM_001148.6(ANK2):c.11522C>T (p.Pro3841Leu)
|
rs767769233
|
|
NM_001148.6(ANK2):c.2460CAC[4] (p.Thr826del)
|
rs770530257
|
|
NM_001148.6(ANK2):c.4555G>T (p.Ala1519Ser)
|
rs200920714
|
|
NM_001148.6(ANK2):c.4940G>A (p.Cys1647Tyr)
|
rs2095548237
|
|
NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp)
|
rs147706514
|
|
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)
|
rs774514148
|
|
NM_001148.6(ANK2):c.7084A>G (p.Lys2362Glu)
|
|
|
NM_001148.6(ANK2):c.7106T>G (p.Val2369Gly)
|
rs28377576
|
|
NM_001148.6(ANK2):c.7706_7707inv (p.Ala2569Val)
|
|
|
NM_001148.6(ANK2):c.7942G>C (p.Gly2648Arg)
|
rs199828363
|
|
NM_001148.6(ANK2):c.7985C>T (p.Ser2662Phe)
|
rs1564029811
|
|
NM_001148.6(ANK2):c.8140G>A (p.Val2714Ile)
|
rs753223319
|
|
NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg)
|
rs528909081
|
|
NM_001148.6(ANK2):c.9590A>G (p.Asp3197Gly)
|
|
|
NM_001148.6(ANK2):c.9991T>C (p.Ser3331Pro)
|
|
|
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala)
|
|
|
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)
|
rs72554069
|
|
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)
|
rs72554069
|
|
NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala)
|
|
|
NM_001267550.2(TTN):c.100980G>A (p.Glu33660=)
|
rs727503536
|
|
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val)
|
rs773542514
|
|
NM_001267550.2(TTN):c.101532A>G (p.Thr33844=)
|
rs776839796
|
|
NM_001267550.2(TTN):c.101613G>A (p.Arg33871=)
|
rs797046068
|
|
NM_001267550.2(TTN):c.102328C>T (p.Arg34110Trp)
|
|
|
NM_001267550.2(TTN):c.102885T>C (p.Gly34295=)
|
rs886039175
|
|
NM_001267550.2(TTN):c.12813C>T (p.His4271=)
|
rs373302409
|
|
NM_001267550.2(TTN):c.12837T>C (p.Asp4279=)
|
rs762681376
|
|
NM_001267550.2(TTN):c.1398+4C>T
|
rs368548209
|
|
NM_001267550.2(TTN):c.156C>G (p.Pro52=)
|
rs72647842
|
|
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)
|
rs149061352
|
|
NM_001267550.2(TTN):c.2707G>A (p.Gly903Arg)
|
|
|
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)
|
rs148269839
|
|
NM_001267550.2(TTN):c.30713A>G (p.Lys10238Arg)
|
rs780073797
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
NM_001267550.2(TTN):c.41178C>T (p.Ile13726=)
|
rs1559992784
|
|
NM_001267550.2(TTN):c.41439G>A (p.Arg13813=)
|
|
|
NM_001267550.2(TTN):c.4227A>G (p.Ser1409=)
|
rs2154346890
|
|
NM_001267550.2(TTN):c.422G>A (p.Gly141Glu)
|
|
|
NM_001267550.2(TTN):c.43263G>A (p.Glu14421=)
|
|
|
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser)
|
rs115825044
|
|
NM_001267550.2(TTN):c.43987A>C (p.Lys14663Gln)
|
rs1271800091
|
|
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)
|
rs373298007
|
|
NM_001267550.2(TTN):c.44812G>A (p.Val14938Met)
|
|
|
NM_001267550.2(TTN):c.45748A>T (p.Ser15250Cys)
|
rs776190494
|
|
NM_001267550.2(TTN):c.47874T>C (p.Phe15958=)
|
|
|
NM_001267550.2(TTN):c.48330T>C (p.Thr16110=)
|
rs557105262
|
|
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del)
|
rs561618839
|
|
NM_001267550.2(TTN):c.51928GAA[2] (p.Glu17312del)
|
rs780745206
|
|
NM_001267550.2(TTN):c.5196A>C (p.Pro1732=)
|
rs142262519
|
|
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser)
|
rs531242797
|
|
NM_001267550.2(TTN):c.54471A>T (p.Lys18157Asn)
|
|
|
NM_001267550.2(TTN):c.55303-1G>A
|
rs748369265
|
|
NM_001267550.2(TTN):c.5577G>A (p.Arg1859=)
|
rs551538420
|
|
NM_001267550.2(TTN):c.56685C>T (p.Ser18895=)
|
rs375403059
|
|
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=)
|
rs530291008
|
|
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile)
|
rs200778464
|
|
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del)
|
rs771898264
|
|
NM_001267550.2(TTN):c.60205T>C (p.Cys20069Arg)
|
|
|
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)
|
rs141142920
|
|
NM_001267550.2(TTN):c.63834C>T (p.Val21278=)
|
rs911870330
|
|
NM_001267550.2(TTN):c.66787C>T (p.Leu22263Phe)
|
|
|
NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser)
|
rs886039082
|
|
NM_001267550.2(TTN):c.69876A>C (p.Thr23292=)
|
rs1267766480
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
NM_001267550.2(TTN):c.69903C>T (p.Phe23301=)
|
rs372799151
|
|
NM_001267550.2(TTN):c.70026T>C (p.Pro23342=)
|
rs878983731
|
|
NM_001267550.2(TTN):c.70137C>A (p.Thr23379=)
|
rs770349910
|
|
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)
|
rs587780986
|
|
NM_001267550.2(TTN):c.74262A>G (p.Val24754=)
|
rs745865847
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
NM_001267550.2(TTN):c.76383TAA[1] (p.Asn25462del)
|
rs749648136
|
|
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys)
|
rs56372592
|
|
NM_001267550.2(TTN):c.79519_79520delinsAA (p.Ala26507Asn)
|
rs886044012
|
|
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln)
|
rs201091376
|
|
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)
|
rs199726308
|
|
NM_001267550.2(TTN):c.8184C>G (p.Val2728=)
|
rs753356474
|
|
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys)
|
rs201489661
|
|
NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met)
|
rs55933739
|
|
NM_001267550.2(TTN):c.82574C>T (p.Thr27525Met)
|
rs1321989289
|
|
NM_001267550.2(TTN):c.83526T>G (p.Ala27842=)
|
rs539533062
|
|
NM_001267550.2(TTN):c.84171A>G (p.Gly28057=)
|
|
|
NM_001267550.2(TTN):c.84681T>C (p.Tyr28227=)
|
rs373268234
|
|
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)
|
rs397517731
|
|
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe)
|
rs794729519
|
|
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=)
|
rs1553542686
|
|
NM_001267550.2(TTN):c.90594T>C (p.His30198=)
|
rs765307374
|
|
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del)
|
rs748912340
|
|
NM_001267550.2(TTN):c.90870C>T (p.Val30290=)
|
rs794729527
|
|
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=)
|
rs758336721
|
|
NM_001267550.2(TTN):c.93168A>T (p.Arg31056=)
|
rs1202181464
|
|
NM_001267550.2(TTN):c.95649G>A (p.Val31883=)
|
rs1553520236
|
|
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=)
|
rs878971586
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
NM_001267550.2(TTN):c.9714G>A (p.Pro3238=)
|
rs886042397
|
|
NM_001267550.2(TTN):c.97976A>T (p.Glu32659Val)
|
|
|
NM_001267550.2(TTN):c.98893G>A (p.Asp32965Asn)
|
rs186405108
|
|
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)
|
rs186405108
|
|
NM_001267550.2(TTN):c.98919C>T (p.Ile32973=)
|
rs776133124
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=)
|
rs745708104
|
|
NM_001267550.2(TTN):c.99643C>T (p.Arg33215Trp)
|
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=)
|
rs200894470
|
|
NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)
|
|
|
NM_001283009.2(RTEL1):c.2840A>G (p.Asn947Ser)
|
rs761268803
|
|
NM_001283009.2(RTEL1):c.2966G>A (p.Arg989Gln)
|
|
|
NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser)
|
rs1046295138
|
|
NM_001308093.3(GATA4):c.333G>A (p.Pro111=)
|
rs1331416104
|
|
NM_001365276.2(TNXB):c.4244C>T (p.Ala1415Val)
|
rs770309992
|
|
NM_001365276.2(TNXB):c.5285G>A (p.Arg1762Gln)
|
|
|
NM_001365276.2(TNXB):c.5603C>T (p.Thr1868Met)
|
|
|
NM_001365276.2(TNXB):c.5870A>G (p.His1957Arg)
|
|
|
NM_001365276.2(TNXB):c.6277G>C (p.Ala2093Pro)
|
|
|
NM_001365276.2(TNXB):c.9242T>C (p.Met3081Thr)
|
|
|
NM_001367624.2(ZNF469):c.10079G>T (p.Ser3360Ile)
|
rs929128705
|
|
NM_001367624.2(ZNF469):c.10325G>T (p.Arg3442Met)
|
rs199528724
|
|
NM_001367624.2(ZNF469):c.1303G>A (p.Ala435Thr)
|
|
|
NM_001367624.2(ZNF469):c.2130_2132delinsCCG (p.Pro711Arg)
|
|
|
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg)
|
rs571184307
|
|
NM_001367624.2(ZNF469):c.2572C>A (p.Pro858Thr)
|
|
|
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del)
|
rs775423936
|
|
NM_001367624.2(ZNF469):c.3759G>A (p.Ala1253=)
|
rs543669472
|
|
NM_001367624.2(ZNF469):c.3954C>A (p.Asp1318Glu)
|
|
|
NM_001367624.2(ZNF469):c.457C>A (p.Pro153Thr)
|
rs532620482
|
|
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)
|
rs532620482
|
|
NM_001367624.2(ZNF469):c.4998G>A (p.Pro1666=)
|
|
|
NM_001367624.2(ZNF469):c.520G>A (p.Ala174Thr)
|
|
|
NM_001367624.2(ZNF469):c.535G>A (p.Gly179Ser)
|
|
|
NM_001367624.2(ZNF469):c.6088A>G (p.Thr2030Ala)
|
|
|
NM_001367624.2(ZNF469):c.6122G>T (p.Gly2041Val)
|
|
|
NM_001367624.2(ZNF469):c.6200C>T (p.Ala2067Val)
|
|
|
NM_001367624.2(ZNF469):c.646A>G (p.Thr216Ala)
|
rs1905827976
|
|
NM_001367624.2(ZNF469):c.6978C>G (p.His2326Gln)
|
rs185282301
|
|
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile)
|
rs886043704
|
|
NM_001367624.2(ZNF469):c.7861G>A (p.Val2621Met)
|
|
|
NM_001367624.2(ZNF469):c.7930C>T (p.Arg2644Trp)
|
|
|
NM_001367624.2(ZNF469):c.8077C>T (p.Pro2693Ser)
|
|
|
NM_001367624.2(ZNF469):c.8182C>T (p.Arg2728Trp)
|
rs143073976
|
|
NM_001367624.2(ZNF469):c.833C>T (p.Pro278Leu)
|
|
|
NM_001367624.2(ZNF469):c.8429C>T (p.Ala2810Val)
|
|
|
NM_001367624.2(ZNF469):c.8720G>C (p.Arg2907Pro)
|
|
|
NM_001367624.2(ZNF469):c.8729C>T (p.Thr2910Met)
|
|
|
NM_001367624.2(ZNF469):c.9242C>A (p.Thr3081Lys)
|
|
|
NM_001367624.2(ZNF469):c.9695C>T (p.Thr3232Met)
|
|
|
NM_001367624.2(ZNF469):c.9772C>A (p.Gln3258Lys)
|
rs2142314561
|
|
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=)
|
rs369902800
|
|
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu)
|
rs547445590
|
|
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)
|
rs151080414
|
|
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=)
|
rs534702284
|
|
NM_001369.3(DNAH5):c.5272-15dup
|
rs35337694
|
|
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys)
|
rs531393117
|
|
NM_001370259.2(MEN1):c.1659C>T (p.Phe553=)
|
rs1299138529
|
|
NM_001370259.2(MEN1):c.21G>A (p.Gln7=)
|
rs1422628649
|
|
NM_001370259.2(MEN1):c.645G>A (p.Val215=)
|
rs1347044526
|
|
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)
|
rs530255181
|
|
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
|
|
|
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser)
|
rs3813227
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=)
|
rs752874408
|
|
NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu)
|
rs77517267
|
|
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile)
|
rs1131691296
|
|
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp)
|
rs28730854
|
|
NM_001378454.1(ALMS1):c.6960G>A (p.Gln2320=)
|
rs794727925
|
|
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)
|
rs369650940
|
|
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg)
|
rs574785830
|
|
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)
|
|
|
NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup)
|
rs774578030
|
|
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del)
|
rs369050575
|
|
NM_001387283.1(SMARCA4):c.4255C>T (p.Arg1419Cys)
|
rs1056234449
|
|
NM_001387283.1(SMARCA4):c.4261T>C (p.Ser1421Pro)
|
rs776681345
|
|
NM_001458.5(FLNC):c.3055G>A (p.Gly1019Ser)
|
rs200864007
|
|
NM_001458.5(FLNC):c.3261C>T (p.Thr1087=)
|
rs2128936369
|
|
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=)
|
rs369853278
|
|
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln)
|
rs150549869
|
|
NM_001927.4(DES):c.1353C>T (p.Ile451=)
|
rs121913002
|
|
NM_001927.4(DES):c.1404A>G (p.Glu468=)
|
rs397516691
|
|
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr)
|
rs201786158
|
|
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn)
|
rs386802145
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_002230.4(JUP):c.959G>A (p.Arg320His)
|
rs781965392
|
|
NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser)
|
rs764138752
|
|
NM_002439.5(MSH3):c.1203G>T (p.Val401=)
|
rs1414371236
|
|
NM_002439.5(MSH3):c.1332A>G (p.Thr444=)
|
rs1252609685
|
|
NM_002439.5(MSH3):c.2469A>G (p.Lys823=)
|
rs2112020238
|
|
NM_002439.5(MSH3):c.2586A>T (p.Gly862=)
|
rs1744630430
|
|
NM_002471.4(MYH6):c.3447C>G (p.Ser1149Arg)
|
rs564367705
|
|
NM_002471.4(MYH6):c.3979-8del
|
rs193922652
|
|
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu)
|
rs34330111
|
|
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)
|
rs878854502
|
|
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln)
|
rs762308378
|
|
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=)
|
rs749424185
|
|
NM_002485.5(NBN):c.1248G>A (p.Met416Ile)
|
rs756572268
|
|
NM_002485.5(NBN):c.1432T>A (p.Cys478Ser)
|
rs1199013619
|
|
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys)
|
rs962092255
|
|
NM_002485.5(NBN):c.266G>A (p.Arg89Gln)
|
rs747315554
|
|
NM_002528.7(NTHL1):c.-5C>G
|
rs552723791
|
|
NM_002528.7(NTHL1):c.330C>T (p.Cys110=)
|
rs2150945100
|
|
NM_002528.7(NTHL1):c.743C>T (p.Thr248Ile)
|
rs577781337
|
|
NM_002528.7(NTHL1):c.792-3C>T
|
rs3087467
|
|
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu)
|
rs202213873
|
|
NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile)
|
|
|
NM_002691.4(POLD1):c.1128C>A (p.Asp376Glu)
|
rs1555790466
|
|
NM_002691.4(POLD1):c.1273G>T (p.Ala425Ser)
|
rs1027677934
|
|
NM_002691.4(POLD1):c.143A>G (p.His48Arg)
|
rs1555789124
|
|
NM_002691.4(POLD1):c.1494+5C>T
|
rs565428379
|
|
NM_002691.4(POLD1):c.1630A>G (p.Ser544Gly)
|
rs2038922133
|
|
NM_002691.4(POLD1):c.1716G>T (p.Val572=)
|
rs1568628387
|
|
NM_002691.4(POLD1):c.217T>A (p.Ser73Thr)
|
rs775119313
|
|
NM_002691.4(POLD1):c.2232C>G (p.Gly744=)
|
rs1247893374
|
|
NM_002691.4(POLD1):c.2284C>A (p.Arg762=)
|
rs769650989
|
|
NM_002691.4(POLD1):c.2376G>A (p.Leu792=)
|
rs2039181523
|
|
NM_002691.4(POLD1):c.2563C>A (p.Arg855=)
|
rs768048535
|
|
NM_002691.4(POLD1):c.256G>C (p.Ala86Pro)
|
rs2122202540
|
|
NM_002691.4(POLD1):c.2952G>A (p.Leu984=)
|
|
|
NM_002691.4(POLD1):c.498G>T (p.Arg166=)
|
rs758097576
|
|
NM_002691.4(POLD1):c.588G>A (p.Glu196=)
|
rs2038667190
|
|
NM_002769.5(PRSS1):c.186C>T (p.Gly62=)
|
|
|
NM_002769.5(PRSS1):c.298G>A (p.Asp100Asn)
|
|
|
NM_002769.5(PRSS1):c.351A>C (p.Ala117=)
|
rs606231346
|
|
NM_002769.5(PRSS1):c.354A>C (p.Val118=)
|
rs606231347
|
|
NM_002769.5(PRSS1):c.360C>T (p.Asn120=)
|
rs606231348
|
|
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val)
|
rs747228052
|
|
NM_002769.5(PRSS1):c.651_652delinsCT (p.Asp218Tyr)
|
rs1554499629
|
|
NM_002878.4(RAD51D):c.145-4_145-3delinsTT
|
rs786202099
|
|
NM_002878.4(RAD51D):c.196G>T (p.Val66Leu)
|
rs56026142
|
|
NM_002878.4(RAD51D):c.345+4C>T
|
rs918947511
|
|
NM_002878.4(RAD51D):c.345+5A>T
|
rs878854562
|
|
NM_002878.4(RAD51D):c.481-4T>G
|
rs876659339
|
|
NM_002878.4(RAD51D):c.668-13CCT[4]
|
rs1230625396
|
|
NM_002878.4(RAD51D):c.691G>T (p.Ala231Ser)
|
rs772135704
|
|
NM_002878.4(RAD51D):c.751A>G (p.Ile251Val)
|
rs540273429
|
|
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)
|
rs876657965
|
|
NM_002880.4(RAF1):c.1842G>A (p.Pro614=)
|
rs200235582
|
|
NM_003000.3(SDHB):c.25T>C (p.Leu9=)
|
rs1060503768
|
|
NM_003002.4(SDHD):c.202A>G (p.Ser68Gly)
|
rs2135269276
|
|
NM_003072.5(SMARCA4):c.234C>A (p.Ser78=)
|
rs1568419701
|
|
NM_003072.5(SMARCA4):c.4665G>A (p.Ser1555=)
|
rs1201916615
|
|
NM_003072.5(SMARCA4):c.53C>T (p.Pro18Leu)
|
rs1060502087
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[5] (p.229GP[10])
|
rs372601826
|
|
NM_003072.5(SMARCA4):c.708_731dup (p.229GP[12])
|
rs1555753690
|
|
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala)
|
rs797045988
|
|
NM_003072.5(SMARCA4):c.923C>T (p.Thr308Met)
|
rs770322996
|
|
NM_003073.5(SMARCB1):c.336C>T (p.Ile112=)
|
rs2145964352
|
|
NM_003073.5(SMARCB1):c.558G>C (p.Leu186=)
|
rs751914353
|
|
NM_003073.5(SMARCB1):c.987-4G>C
|
rs745773662
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.202A>C (p.Met68Leu)
|
rs1060501985
|
|
NM_003476.5(CSRP3):c.324C>T (p.Ser108=)
|
|
|
NM_003480.4(MFAP5):c.57T>C (p.Ser19=)
|
rs2136485750
|
|
NM_003480.4(MFAP5):c.87A>G (p.Gln29=)
|
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
NM_003839.4(TNFRSF11A):c.637G>A (p.Gly213Ser)
|
rs766330561
|
|
NM_003924.4(PHOX2B):c.42C>T (p.Tyr14=)
|
rs775101470
|
|
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)
|
rs764470906
|
|
NM_004006.3(DMD):c.1311T>G (p.Ala437=)
|
rs398123855
|
|
NM_004006.3(DMD):c.3696A>C (p.Ala1232=)
|
rs369971712
|
|
NM_004006.3(DMD):c.3696A>G (p.Ala1232=)
|
rs369971712
|
|
NM_004006.3(DMD):c.445C>A (p.Arg149Ser)
|
rs774139970
|
|
NM_004006.3(DMD):c.468A>C (p.Val156=)
|
rs886044031
|
|
NM_004006.3(DMD):c.4941G>A (p.Thr1647=)
|
rs750090479
|
|
NM_004006.3(DMD):c.579A>T (p.Thr193=)
|
rs766344083
|
|
NM_004006.3(DMD):c.5933G>A (p.Arg1978His)
|
rs148135406
|
|
NM_004006.3(DMD):c.8172C>T (p.Leu2724=)
|
rs886044500
|
|
NM_004064.5(CDKN1B):c.271C>T (p.Pro91Ser)
|
rs769828807
|
|
NM_004064.5(CDKN1B):c.27G>A (p.Gly9=)
|
rs1060503869
|
|
NM_004064.5(CDKN1B):c.372C>T (p.Asn124=)
|
rs760081465
|
|
NM_004064.5(CDKN1B):c.449G>C (p.Gly150Ala)
|
rs772818396
|
|
NM_004281.4(BAG3):c.1541A>G (p.Asn514Ser)
|
rs1564776999
|
|
NM_004304.5(ALK):c.1084A>G (p.Ile362Val)
|
rs1465809492
|
|
NM_004304.5(ALK):c.1183C>T (p.Arg395Cys)
|
rs779282861
|
|
NM_004304.5(ALK):c.1428G>A (p.Val476=)
|
rs1667017111
|
|
NM_004304.5(ALK):c.1865T>C (p.Ile622Thr)
|
rs1665516730
|
|
NM_004304.5(ALK):c.1911C>T (p.Thr637=)
|
rs1553402750
|
|
NM_004304.5(ALK):c.2073C>T (p.Ser691=)
|
rs370435082
|
|
NM_004304.5(ALK):c.2284A>G (p.Ile762Val)
|
rs751419856
|
|
NM_004304.5(ALK):c.2391G>A (p.Glu797=)
|
rs372037531
|
|
NM_004304.5(ALK):c.2501T>A (p.Val834Glu)
|
rs750849080
|
|
NM_004304.5(ALK):c.2703C>G (p.Thr901=)
|
|
|
NM_004304.5(ALK):c.2874C>T (p.Phe958=)
|
|
|
NM_004304.5(ALK):c.2901C>A (p.Thr967=)
|
rs886055930
|
|
NM_004304.5(ALK):c.291G>T (p.Pro97=)
|
rs2148443574
|
|
NM_004304.5(ALK):c.310C>A (p.Pro104Thr)
|
rs576431612
|
|
NM_004304.5(ALK):c.3358C>A (p.Arg1120=)
|
rs774951734
|
|
NM_004304.5(ALK):c.3360G>A (p.Arg1120=)
|
rs747985440
|
|
NM_004304.5(ALK):c.3663G>A (p.Leu1221=)
|
rs751889072
|
|
NM_004304.5(ALK):c.398G>A (p.Arg133His)
|
rs768229646
|
|
NM_004304.5(ALK):c.4272C>T (p.Leu1424=)
|
|
|
NM_004304.5(ALK):c.4298A>G (p.Glu1433Gly)
|
rs1668950412
|
|
NM_004304.5(ALK):c.4471A>C (p.Lys1491Gln)
|
|
|
NM_004304.5(ALK):c.46A>G (p.Thr16Ala)
|
rs1572504096
|
|
NM_004304.5(ALK):c.510C>T (p.Leu170=)
|
rs886055933
|
|
NM_004304.5(ALK):c.536G>A (p.Arg179His)
|
rs1316424431
|
|
NM_004304.5(ALK):c.615C>A (p.Ser205=)
|
rs567498111
|
|
NM_004304.5(ALK):c.660C>T (p.Phe220=)
|
rs1667944556
|
|
NM_004304.5(ALK):c.7G>A (p.Ala3Thr)
|
rs1446332510
|
|
NM_004329.3(BMPR1A):c.415C>T (p.Pro139Ser)
|
rs772163112
|
|
NM_004329.3(BMPR1A):c.505A>T (p.Ile169Phe)
|
rs878854668
|
|
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn)
|
rs369012159
|
|
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)
|
rs587778111
|
|
NM_004333.6(BRAF):c.111G>A (p.Ser37=)
|
rs727502906
|
|
NM_004333.6(BRAF):c.1789C>T (p.Leu597=)
|
rs121913369
|
|
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])
|
rs397507458
|
|
NM_004333.6(BRAF):c.858T>G (p.Leu286=)
|
rs758553809
|
|
NM_004360.5(CDH1):c.1032G>A (p.Val344=)
|
rs2152132524
|
|
NM_004360.5(CDH1):c.113C>T (p.Thr38Met)
|
rs587778171
|
|
NM_004360.5(CDH1):c.1363G>A (p.Ala455Thr)
|
rs876659762
|
|
NM_004360.5(CDH1):c.1475G>C (p.Arg492Thr)
|
rs587781286
|
|
NM_004360.5(CDH1):c.1585A>G (p.Thr529Ala)
|
rs776890776
|
|
NM_004360.5(CDH1):c.1708A>G (p.Asn570Asp)
|
rs1567510854
|
|
NM_004360.5(CDH1):c.177T>G (p.Asp59Glu)
|
rs587780116
|
|
NM_004360.5(CDH1):c.1936+4G>A
|
rs864622365
|
|
NM_004360.5(CDH1):c.1937-4C>G
|
rs1057523153
|
|
NM_004360.5(CDH1):c.2076_2077inv (p.Gly693Ser)
|
|
|
NM_004360.5(CDH1):c.2080G>A (p.Val694Ile)
|
rs587780118
|
|
NM_004360.5(CDH1):c.2296-4A>G
|
|
|
NM_004360.5(CDH1):c.2374A>C (p.Met792Leu)
|
rs759380419
|
|
NM_004360.5(CDH1):c.2602C>T (p.Arg868Cys)
|
rs864622630
|
|
NM_004360.5(CDH1):c.268C>T (p.Arg90Trp)
|
rs730881661
|
|
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup)
|
rs587782476
|
|
NM_004360.5(CDH1):c.32TGC[7] (p.Leu14_Leu15dup)
|
rs587782476
|
|
NM_004360.5(CDH1):c.388-3T>C
|
rs112139520
|
|
NM_004360.5(CDH1):c.409G>A (p.Ala137Thr)
|
rs876658797
|
|
NM_004360.5(CDH1):c.488G>C (p.Cys163Ser)
|
rs748783182
|
|
NM_004360.5(CDH1):c.671G>T (p.Arg224Leu)
|
rs201511530
|
|
NM_004360.5(CDH1):c.719A>G (p.Asn240Ser)
|
rs587780788
|
|
NM_004360.5(CDH1):c.871G>A (p.Asp291Asn)
|
rs876660645
|
|
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)
|
rs147805823
|
|
NM_004387.4(NKX2-5):c.627GCC[6] (p.Pro214dup)
|
rs746833511
|
|
NM_004415.4(DSP):c.157T>G (p.Ser53Ala)
|
rs397516918
|
|
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu)
|
rs1561690890
|
|
NM_004415.4(DSP):c.5798C>G (p.Ser1933Cys)
|
|
|
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
|
rs397516962
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])
|
rs397516971
|
|
NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4])
|
rs794728151
|
|
NM_004444.5(EPHB4):c.1151G>A (p.Arg384Gln)
|
|
|
NM_004444.5(EPHB4):c.1625C>T (p.Ala542Val)
|
|
|
NM_004444.5(EPHB4):c.187G>C (p.Val63Leu)
|
|
|
NM_004444.5(EPHB4):c.2257G>A (p.Val753Ile)
|
|
|
NM_004444.5(EPHB4):c.242G>A (p.Arg81Gln)
|
|
|
NM_004444.5(EPHB4):c.272G>A (p.Arg91His)
|
|
|
NM_004444.5(EPHB4):c.419C>T (p.Thr140Met)
|
|
|
NM_004444.5(EPHB4):c.624G>A (p.Pro208=)
|
|
|
NM_004444.5(EPHB4):c.998G>A (p.Arg333His)
|
|
|
NM_004588.5(SCN2B):c.578C>G (p.Thr193Arg)
|
rs115353159
|
|
NM_004588.5(SCN2B):c.625_626delinsCC (p.Asn209Pro)
|
rs1064796044
|
|
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[12] (p.Ala24_Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[4] (p.Ala22_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[5] (p.Ala23_Ala26del)
|
rs11466445
|
|
NM_004655.4(AXIN2):c.1952C>G (p.Ser651Trp)
|
rs74006838
|
|
NM_004655.4(AXIN2):c.2091G>A (p.Leu697=)
|
rs2043915103
|
|
NM_004655.4(AXIN2):c.2405+4A>C
|
rs377423720
|
|
NM_004655.4(AXIN2):c.339C>T (p.Ala113=)
|
rs1598119867
|
|
NM_004656.4(BAP1):c.1217A>C (p.Glu406Ala)
|
rs535695655
|
|
NM_004656.4(BAP1):c.1337A>G (p.Asn446Ser)
|
rs751399960
|
|
NM_004656.4(BAP1):c.1806G>C (p.Glu602Asp)
|
rs759423683
|
|
NM_004656.4(BAP1):c.1887C>T (p.Pro629=)
|
rs1253470807
|
|
NM_004656.4(BAP1):c.908C>T (p.Ala303Val)
|
rs753460994
|
|
NM_004656.4(BAP1):c.961G>A (p.Ala321Thr)
|
rs143891879
|
|
NM_004982.4(KCNJ8):c.471G>C (p.Thr157=)
|
rs143319002
|
|
NM_004990.4(MARS1):c.212del (p.Leu71fs)
|
rs751080704
|
|
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)
|
rs762015967
|
|
NM_005188.4(CBL):c.1296T>C (p.Asp432=)
|
rs1188095865
|
|
NM_005188.4(CBL):c.1365T>C (p.Tyr455=)
|
rs749044865
|
|
NM_005188.4(CBL):c.2190G>A (p.Thr730=)
|
rs143840974
|
|
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln)
|
rs761912885
|
|
NM_005343.4(HRAS):c.21G>C (p.Val7=)
|
|
|
NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup)
|
rs887468453
|
|
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe)
|
rs775803239
|
|
NM_005477.3(HCN4):c.321C>T (p.Gly107=)
|
rs1555479019
|
|
NM_005502.4(ABCA1):c.5377G>A (p.Asp1793Asn)
|
|
|
NM_005502.4(ABCA1):c.6309-4G>A
|
rs199562704
|
|
NM_005591.4(MRE11):c.1326+3A>G
|
rs863224735
|
|
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro)
|
rs148637964
|
|
NM_005591.4(MRE11):c.1974C>T (p.Thr658=)
|
rs772019392
|
|
NM_005633.4(SOS1):c.1989A>C (p.Ile663=)
|
rs587781172
|
|
NM_005633.4(SOS1):c.3770C>T (p.Thr1257Ile)
|
rs962478091
|
|
NM_005732.4(RAD50):c.1052-4A>G
|
rs1561639434
|
|
NM_005732.4(RAD50):c.1190A>T (p.His397Leu)
|
rs562153754
|
|
NM_005732.4(RAD50):c.1216G>C (p.Gly406Arg)
|
rs747951988
|
|
NM_005732.4(RAD50):c.1352G>A (p.Ser451Asn)
|
rs755082861
|
|
NM_005732.4(RAD50):c.1749A>G (p.Lys583=)
|
rs2149842746
|
|
NM_005732.4(RAD50):c.2738G>A (p.Ser913Asn)
|
rs876659971
|
|
NM_005732.4(RAD50):c.2872A>G (p.Met958Val)
|
rs570502111
|
|
NM_005732.4(RAD50):c.2944A>G (p.Lys982Glu)
|
rs1581004859
|
|
NM_005732.4(RAD50):c.3908G>A (p.Ser1303Asn)
|
rs766044158
|
|
NM_005732.4(RAD50):c.445G>T (p.Ala149Ser)
|
rs2149837742
|
|
NM_005732.4(RAD50):c.477A>G (p.Gln159=)
|
rs876660281
|
|
NM_005732.4(RAD50):c.633A>G (p.Lys211=)
|
rs1554097809
|
|
NM_005732.4(RAD50):c.828T>G (p.Asp276Glu)
|
rs1232305395
|
|
NM_005751.5(AKAP9):c.10118C>G (p.Ser3373Cys)
|
rs140470576
|
|
NM_005751.5(AKAP9):c.2945C>A (p.Ser982Tyr)
|
rs374340343
|
|
NM_005751.5(AKAP9):c.7773A>C (p.Gln2591His)
|
rs553800160
|
|
NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys)
|
rs201958512
|
|
NM_006073.4(TRDN):c.1365G>A (p.Glu455=)
|
rs1452206168
|
|
NM_006231.4(POLE):c.3267C>T (p.Val1089=)
|
rs1555225636
|
|
NM_006231.4(POLE):c.3905T>C (p.Leu1302Pro)
|
rs766058852
|
|
NM_006231.4(POLE):c.6334C>T (p.Leu2112=)
|
rs373443211
|
|
NM_006514.4(SCN10A):c.2062G>A (p.Gly688Ser)
|
rs779931477
|
|
NM_006514.4(SCN10A):c.2161C>T (p.Pro721Ser)
|
rs747114420
|
|
NM_006514.4(SCN10A):c.2476G>A (p.Asp826Asn)
|
rs199535863
|
|
NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly)
|
|
|
NM_006514.4(SCN10A):c.3108C>T (p.Val1036=)
|
rs970173552
|
|
NM_006514.4(SCN10A):c.3361C>A (p.Arg1121Ser)
|
rs146965005
|
|
NM_006514.4(SCN10A):c.3361C>T (p.Arg1121Cys)
|
rs146965005
|
|
NM_006514.4(SCN10A):c.4762C>T (p.Arg1588Ter)
|
rs142537392
|
|
NM_006514.4(SCN10A):c.5023C>A (p.Pro1675Thr)
|
rs758877832
|
|
NM_006514.4(SCN10A):c.5065A>G (p.Arg1689Gly)
|
rs767267531
|
|
NM_006514.4(SCN10A):c.542A>C (p.Glu181Ala)
|
rs142203439
|
|
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1])
|
rs397517209
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
NM_007194.4(CHEK2):c.38A>G (p.His13Arg)
|
rs1064793324
|
|
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys)
|
rs786203042
|
|
NM_007194.4(CHEK2):c.612G>T (p.Leu204=)
|
rs752876192
|
|
NM_007194.4(CHEK2):c.630A>G (p.Ser210=)
|
|
|
NM_007272.3(CTRC):c.-59C>T
|
rs183658182
|
|
NM_007272.3(CTRC):c.615C>T (p.Gly205=)
|
rs756236720
|
|
NM_007272.3(CTRC):c.642G>A (p.Gly214=)
|
rs1265655451
|
|
NM_007272.3(CTRC):c.722G>A (p.Arg241Gln)
|
|
|
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu)
|
rs147925927
|
|
NM_007294.4(BRCA1):c.-1A>G
|
rs587781565
|
|
NM_007294.4(BRCA1):c.106T>A (p.Ser36Thr)
|
rs905812561
|
|
NM_007294.4(BRCA1):c.124A>G (p.Ile42Val)
|
rs80357163
|
|
NM_007294.4(BRCA1):c.1409G>A (p.Ser470Asn)
|
rs1567799713
|
|
NM_007294.4(BRCA1):c.1418A>T (p.Asn473Ile)
|
rs80357057
|
|
NM_007294.4(BRCA1):c.154C>A (p.Leu52Ile)
|
rs80357084
|
|
NM_007294.4(BRCA1):c.158A>G (p.Asn53Ser)
|
rs1438140067
|
|
NM_007294.4(BRCA1):c.1684A>G (p.Ile562Val)
|
rs1567798727
|
|
NM_007294.4(BRCA1):c.172C>A (p.Pro58Thr)
|
rs397508904
|
|
NM_007294.4(BRCA1):c.1775G>A (p.Ser592Asn)
|
rs786203044
|
|
NM_007294.4(BRCA1):c.1805A>G (p.Asn602Ser)
|
rs1567798189
|
|
NM_007294.4(BRCA1):c.189A>T (p.Leu63Phe)
|
rs80356956
|
|
NM_007294.4(BRCA1):c.2144C>G (p.Thr715Ser)
|
rs2053817641
|
|
NM_007294.4(BRCA1):c.2215A>C (p.Lys739Gln)
|
rs56329598
|
|
NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp)
|
rs397508970
|
|
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)
|
rs80357200
|
|
NM_007294.4(BRCA1):c.266T>C (p.Ile89Thr)
|
rs80357097
|
|
NM_007294.4(BRCA1):c.2702T>C (p.Phe901Ser)
|
rs397507202
|
|
NM_007294.4(BRCA1):c.2773A>G (p.Ile925Val)
|
rs4986847
|
|
NM_007294.4(BRCA1):c.2798G>C (p.Gly933Ala)
|
rs80356941
|
|
NM_007294.4(BRCA1):c.281A>G (p.Gln94Arg)
|
rs2054675893
|
|
NM_007294.4(BRCA1):c.2891G>A (p.Gly964Glu)
|
rs1597866960
|
|
NM_007294.4(BRCA1):c.2900C>T (p.Thr967Ile)
|
rs1249532992
|
|
NM_007294.4(BRCA1):c.2917C>A (p.Leu973Ile)
|
rs80357080
|
|
NM_007294.4(BRCA1):c.2960A>G (p.Lys987Arg)
|
rs876659990
|
|
NM_007294.4(BRCA1):c.2987A>G (p.Lys996Arg)
|
rs786202898
|
|
NM_007294.4(BRCA1):c.3181A>G (p.Ile1061Val)
|
rs876658975
|
|
NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val)
|
rs397507213
|
|
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
|
rs80358337
|
|
NM_007294.4(BRCA1):c.3556C>T (p.Leu1186Phe)
|
rs1555587505
|
|
NM_007294.4(BRCA1):c.3734G>A (p.Ser1245Asn)
|
rs1060502348
|
|
NM_007294.4(BRCA1):c.3736A>G (p.Thr1246Ala)
|
rs587776488
|
|
NM_007294.4(BRCA1):c.3760A>G (p.Lys1254Glu)
|
rs80357362
|
|
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr)
|
rs483353090
|
|
NM_007294.4(BRCA1):c.4048G>T (p.Gly1350Cys)
|
rs748674194
|
|
NM_007294.4(BRCA1):c.4130G>A (p.Ser1377Asn)
|
rs1567788442
|
|
NM_007294.4(BRCA1):c.413T>G (p.Leu138Arg)
|
|
|
NM_007294.4(BRCA1):c.4352A>G (p.Glu1451Gly)
|
rs949793708
|
|
NM_007294.4(BRCA1):c.4393A>G (p.Ile1465Val)
|
rs1567779778
|
|
NM_007294.4(BRCA1):c.4505C>A (p.Pro1502Gln)
|
rs56335406
|
|
NM_007294.4(BRCA1):c.4631C>T (p.Pro1544Leu)
|
rs80356917
|
|
NM_007294.4(BRCA1):c.483T>G (p.Thr161=)
|
rs1060504575
|
|
NM_007294.4(BRCA1):c.4895T>G (p.Val1632Gly)
|
rs1397965282
|
|
NM_007294.4(BRCA1):c.4931A>G (p.Glu1644Gly)
|
rs80357016
|
|
NM_007294.4(BRCA1):c.4993G>C (p.Val1665Leu)
|
rs80357169
|
|
NM_007294.4(BRCA1):c.5023A>T (p.Thr1675Ser)
|
rs774452090
|
|
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala)
|
rs397509219
|
|
NM_007294.4(BRCA1):c.5087T>C (p.Val1696Ala)
|
rs397509226
|
|
NM_007294.4(BRCA1):c.5113C>G (p.Leu1705Val)
|
rs80356858
|
|
NM_007294.4(BRCA1):c.5147A>G (p.Tyr1716Cys)
|
rs587782456
|
|
NM_007294.4(BRCA1):c.5177G>T (p.Arg1726Ile)
|
rs786203547
|
|
NM_007294.4(BRCA1):c.5193G>A (p.Glu1731=)
|
rs876660702
|
|
NM_007294.4(BRCA1):c.5221G>A (p.Val1741Ile)
|
rs876659122
|
|
NM_007294.4(BRCA1):c.5269G>C (p.Asp1757His)
|
rs863224764
|
|
NM_007294.4(BRCA1):c.5276A>G (p.Lys1759Arg)
|
rs431825415
|
|
NM_007294.4(BRCA1):c.5277+3A>G
|
rs397509250
|
|
NM_007294.4(BRCA1):c.5285G>T (p.Arg1762Met)
|
rs398122694
|
|
NM_007294.4(BRCA1):c.5296A>G (p.Ile1766Val)
|
rs886039314
|
|
NM_007294.4(BRCA1):c.5309G>C (p.Gly1770Ala)
|
rs863224765
|
|
NM_007294.4(BRCA1):c.5312C>T (p.Pro1771Leu)
|
rs80357025
|
|
NM_007294.4(BRCA1):c.5318C>T (p.Thr1773Ile)
|
rs80357428
|
|
NM_007294.4(BRCA1):c.5327C>A (p.Pro1776His)
|
rs398122695
|
|
NM_007294.4(BRCA1):c.5343A>C (p.Glu1781Asp)
|
rs1555575182
|
|
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser)
|
rs80357078
|
|
NM_007294.4(BRCA1):c.5371G>T (p.Val1791Leu)
|
rs145758886
|
|
NM_007294.4(BRCA1):c.5372T>C (p.Val1791Ala)
|
rs864622244
|
|
NM_007294.4(BRCA1):c.5407G>T (p.Gly1803Cys)
|
rs876659510
|
|
NM_007294.4(BRCA1):c.5422G>T (p.Val1808Leu)
|
rs1555574756
|
|
NM_007294.4(BRCA1):c.5454C>T (p.Asp1818=)
|
rs1555574705
|
|
NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser)
|
rs398122698
|
|
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)
|
rs587782026
|
|
NM_007294.4(BRCA1):c.5476C>A (p.Gln1826Lys)
|
rs587782887
|
|
NM_007294.4(BRCA1):c.5492C>G (p.Pro1831Arg)
|
rs587782778
|
|
NM_007294.4(BRCA1):c.5512G>A (p.Val1838Met)
|
rs730881501
|
|
NM_007294.4(BRCA1):c.5529_5530delinsCA (p.Leu1844Ile)
|
rs1555574389
|
|
NM_007294.4(BRCA1):c.5531T>C (p.Leu1844Pro)
|
rs80357323
|
|
NM_007294.4(BRCA1):c.5555C>T (p.Thr1852Ile)
|
rs730881502
|
|
NM_007294.4(BRCA1):c.5571_5579del (p.Gln1857_Pro1859del)
|
rs775417240
|
|
NM_007294.4(BRCA1):c.5578dup (p.His1860fs)
|
rs397507254
|
|
NM_007294.4(BRCA1):c.593+4A>G
|
rs80358154
|
|
NM_007294.4(BRCA1):c.654G>A (p.Leu218=)
|
rs1555593548
|
|
NM_007294.4(BRCA1):c.697G>A (p.Val233Ile)
|
rs959797914
|
|
NM_007294.4(BRCA1):c.879T>C (p.Thr293=)
|
rs139433219
|
|
NM_007294.4(BRCA1):c.954T>A (p.His318Gln)
|
rs1135401826
|
|
NM_007294.4(BRCA1):c.964G>A (p.Ala322Thr)
|
rs80357252
|
|
NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln)
|
rs80357066
|
|
NM_012186.3(FOXE3):c.834C>T (p.Pro278=)
|
rs886042525
|
|
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg)
|
rs200342284
|
|
NM_014000.3(VCL):c.1296_1297inv (p.Arg433Cys)
|
|
|
NM_014000.3(VCL):c.1973T>C (p.Val658Ala)
|
rs372691803
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014391.3(ANKRD1):c.346-29_346-12del
|
rs72003210
|
|
NM_015512.5(DNAH1):c.1114G>A (p.Ala372Thr)
|
|
|
NM_015512.5(DNAH1):c.9752A>G (p.Asn3251Ser)
|
|
|
NM_016169.4(SUFU):c.31G>C (p.Gly11Arg)
|
rs1322807658
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)
|
rs35129734
|
|
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp)
|
rs372215131
|
|
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val)
|
rs878855023
|
|
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu)
|
rs150343794
|
|
NM_017636.4(TRPM4):c.2214G>A (p.Thr738=)
|
rs1490908470
|
|
NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs)
|
rs765535147
|
|
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)
|
rs1554983610
|
|
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr)
|
rs369144563
|
|
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=)
|
rs200641382
|
|
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg)
|
rs770564150
|
|
NM_018238.4(AGK):c.971C>T (p.Pro324Leu)
|
|
|
NM_020297.4(ABCC9):c.2470C>A (p.Arg824=)
|
rs779866340
|
|
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr)
|
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)
|
|
|
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
|
|
|
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs)
|
rs527847958
|
|
NM_020778.5(ALPK3):c.1600G>A (p.Gly534Ser)
|
|
|
NM_020778.5(ALPK3):c.1663T>A (p.Cys555Ser)
|
|
|
NM_020778.5(ALPK3):c.168C>T (p.His56=)
|
|
|
NM_020778.5(ALPK3):c.1750A>G (p.Ile584Val)
|
|
|
NM_020778.5(ALPK3):c.2702A>G (p.Glu901Gly)
|
|
|
NM_020778.5(ALPK3):c.2716A>T (p.Met906Leu)
|
rs1249860975
|
|
NM_020778.5(ALPK3):c.4948T>C (p.Ser1650Pro)
|
|
|
NM_020778.5(ALPK3):c.669A>T (p.Arg223=)
|
|
|
NM_020778.5(ALPK3):c.744G>A (p.Ala248=)
|
rs1963641415
|
|
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr)
|
rs760258217
|
|
NM_020975.6(RET):c.1573C>A (p.Arg525=)
|
rs545625150
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
NM_020975.6(RET):c.960C>A (p.Pro320=)
|
rs756761746
|
|
NM_021167.5(GATAD1):c.166GGC[5] (p.Gly59dup)
|
rs876657812
|
|
NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile)
|
rs56170027
|
|
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)
|
|
|
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)
|
|
|
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)
|
|
|
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=)
|
rs575266356
|
|
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)
|
rs72542426
|
|
NM_022436.3(ABCG5):c.550C>T (p.Leu184=)
|
rs762951266
|
|
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr)
|
rs770103215
|
|
NM_022437.3(ABCG8):c.1293C>A (p.Ile431=)
|
rs202176869
|
|
NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu)
|
rs558635043
|
|
NM_022437.3(ABCG8):c.576C>A (p.Ile192=)
|
rs148058949
|
|
NM_022437.3(ABCG8):c.642G>A (p.Ser214=)
|
rs202198142
|
|
NM_022489.4(INF2):c.1865G>C (p.Arg622Pro)
|
|
|
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu)
|
rs767075044
|
|
NM_022489.4(INF2):c.3519CGAGGA[1] (p.1171DE[2])
|
rs748373029
|
|
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs)
|
rs753327806
|
|
NM_022489.4(INF2):c.466G>A (p.Glu156Lys)
|
|
|
NM_022489.4(INF2):c.685G>A (p.Val229Ile)
|
rs752058170
|
|
NM_022773.4(LMF1):c.1061G>A (p.Arg354Gln)
|
|
|
NM_022773.4(LMF1):c.1184C>T (p.Thr395Ile)
|
|
|
NM_022773.4(LMF1):c.1620C>T (p.Ile540=)
|
|
|
NM_024301.5(FKRP):c.291C>T (p.Pro97=)
|
rs1215872713
|
|
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser)
|
rs187262922
|
|
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del)
|
rs746639451
|
|
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu)
|
rs201517977
|
|
NM_024675.4(PALB2):c.1103A>G (p.Asn368Ser)
|
rs1060502799
|
|
NM_024675.4(PALB2):c.1148T>C (p.Leu383Pro)
|
rs1555461432
|
|
NM_024675.4(PALB2):c.1165C>G (p.Leu389Val)
|
rs1555461427
|
|
NM_024675.4(PALB2):c.1176A>G (p.Glu392=)
|
rs1555461423
|
|
NM_024675.4(PALB2):c.1430C>A (p.Thr477Asn)
|
rs1567221020
|
|
NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro)
|
rs577969558
|
|
NM_024675.4(PALB2):c.1603A>G (p.Ser535Gly)
|
|
|
NM_024675.4(PALB2):c.1659C>A (p.His553Gln)
|
rs370318597
|
|
NM_024675.4(PALB2):c.1781G>A (p.Arg594Lys)
|
rs1597091217
|
|
NM_024675.4(PALB2):c.2066C>T (p.Ser689Leu)
|
rs749602688
|
|
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys)
|
rs770145849
|
|
NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys)
|
rs62625278
|
|
NM_024675.4(PALB2):c.2303G>C (p.Cys768Ser)
|
rs1060502770
|
|
NM_024675.4(PALB2):c.236A>G (p.Tyr79Cys)
|
rs766710382
|
|
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)
|
rs536644825
|
|
NM_024675.4(PALB2):c.2506G>T (p.Val836Phe)
|
rs536644825
|
|
NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys)
|
rs1567216902
|
|
NM_024675.4(PALB2):c.2561A>G (p.Asn854Ser)
|
rs146455175
|
|
NM_024675.4(PALB2):c.2645G>T (p.Cys882Phe)
|
rs45486906
|
|
NM_024675.4(PALB2):c.2852C>T (p.Ser951Phe)
|
rs587782889
|
|
NM_024675.4(PALB2):c.2858A>G (p.Asp953Gly)
|
rs1555459583
|
|
NM_024675.4(PALB2):c.3256C>G (p.Arg1086Gly)
|
rs587776527
|
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
rs201657283
|
|
NM_024675.4(PALB2):c.341G>A (p.Gly114Glu)
|
rs1567223045
|
|
NM_024675.4(PALB2):c.365A>G (p.Asp122Gly)
|
rs866367185
|
|
NM_024675.4(PALB2):c.388C>T (p.His130Tyr)
|
rs1555461809
|
|
NM_024675.4(PALB2):c.485G>C (p.Cys162Ser)
|
rs1555461779
|
|
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)
|
rs587782164
|
|
NM_024675.4(PALB2):c.583A>G (p.Ile195Val)
|
rs760784181
|
|
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)
|
rs587778582
|
|
NM_024675.4(PALB2):c.846A>T (p.Arg282Ser)
|
rs1555461587
|
|
NM_024675.4(PALB2):c.850A>G (p.Thr284Ala)
|
rs1555461584
|
|
NM_024675.4(PALB2):c.908T>C (p.Leu303Pro)
|
rs774057025
|
|
NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val)
|
rs749251680
|
|
NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr)
|
rs761452695
|
|
NM_032043.3(BRIP1):c.1546G>A (p.Val516Ile)
|
rs1567816972
|
|
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)
|
rs786201701
|
|
NM_032043.3(BRIP1):c.1760A>G (p.His587Arg)
|
rs876660646
|
|
NM_032043.3(BRIP1):c.1917T>C (p.His639=)
|
rs763534423
|
|
NM_032043.3(BRIP1):c.2258-3A>G
|
rs786203561
|
|
NM_032043.3(BRIP1):c.2552A>G (p.Asn851Ser)
|
rs2061477443
|
|
NM_032043.3(BRIP1):c.2627G>A (p.Ser876Asn)
|
rs750961319
|
|
NM_032043.3(BRIP1):c.2812G>A (p.Glu938Lys)
|
rs199643061
|
|
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn)
|
rs757225144
|
|
NM_032043.3(BRIP1):c.3337A>G (p.Lys1113Glu)
|
rs2061310712
|
|
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)
|
rs774605759
|
|
NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr)
|
rs2061301543
|
|
NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser)
|
rs1567727439
|
|
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)
|
rs45617634
|
|
NM_032043.3(BRIP1):c.436A>G (p.Ile146Val)
|
rs1567868598
|
|
NM_032043.3(BRIP1):c.618G>T (p.Ser206=)
|
rs367614726
|
|
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val)
|
rs555466095
|
|
NM_032578.4(MYPN):c.1445G>A (p.Arg482Lys)
|
rs773665854
|
|
NM_032578.4(MYPN):c.1875C>G (p.Pro625=)
|
rs2673793
|
|
NM_032578.4(MYPN):c.2409C>A (p.Ser803Arg)
|
rs3814182
|
|
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)
|
rs149887823
|
|
NM_032578.4(MYPN):c.3205C>A (p.Arg1069Ser)
|
rs368448794
|
|
NM_033337.3(CAV3):c.399C>T (p.Phe133=)
|
rs769859957
|
|
NM_033337.3(CAV3):c.402G>C (p.Ala134=)
|
rs559206877
|
|
NM_053025.4(MYLK):c.1048G>A (p.Ala350Thr)
|
rs532659627
|
|
NM_058216.3(RAD51C):c.1045A>G (p.Thr349Ala)
|
rs1567818564
|
|
NM_058216.3(RAD51C):c.1128A>G (p.Leu376=)
|
rs545024029
|
|
NM_058216.3(RAD51C):c.32A>G (p.Gln11Arg)
|
rs730881937
|
|
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)
|
rs370212314
|
|
NM_058216.3(RAD51C):c.606T>A (p.Asp202Glu)
|
rs2048270218
|
|
NM_058216.3(RAD51C):c.672_705+65dup
|
rs1555597214
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
NM_139058.3(ARX):c.441A>G (p.Ala147=)
|
rs797045301
|
|
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del)
|
rs794729091
|
|
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del)
|
rs397517848
|
|
NM_144573.4(NEXN):c.1671GGA[3] (p.Glu562del)
|
rs397517848
|
|
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)
|
rs727505124
|
|
NM_144997.7(FLCN):c.1198G>T (p.Val400Phe)
|
rs148257120
|
|
NM_170707.4(LMNA):c.1122C>T (p.His374=)
|
rs143715750
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.1599C>T (p.Ser533=)
|
rs886043346
|
|
NM_170707.4(LMNA):c.1827A>T (p.Gly609=)
|
rs1558135172
|
|
NM_170707.4(LMNA):c.483G>A (p.Glu161=)
|
rs1553264647
|
|
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg)
|
rs201454653
|
|
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His)
|
rs141867978
|
|
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
|
|
|
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)
|
rs35574083
|
|
NM_174936.4(PCSK9):c.522C>T (p.Pro174=)
|
rs373018373
|
|
NM_177438.3(DICER1):c.1140G>C (p.Leu380=)
|
rs745464699
|
|
NM_177438.3(DICER1):c.159A>G (p.Glu53=)
|
rs2140289208
|
|
NM_177438.3(DICER1):c.2916T>C (p.Tyr972=)
|
rs1488644936
|
|
NM_177438.3(DICER1):c.3546A>G (p.Gln1182=)
|
rs1566768449
|
|
NM_177438.3(DICER1):c.4506C>T (p.Asp1502=)
|
rs1595341062
|
|
NM_177438.3(DICER1):c.904-5del
|
rs769549511
|
|
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
|
rs145844329
|
|
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met)
|
|
|
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His)
|
|
|
NM_201596.3(CACNB2):c.1206+4_1206+7dup
|
rs1456201116
|
|
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile)
|
rs142639223
|
|
NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp)
|
rs61733968
|
|
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=)
|
rs1252496774
|
|
Single allele
|
|
|