ClinVar Miner

Variants with conflicting interpretations "likely benign" from Ambry Genetics and "uncertain significance" from any submitter

Minimum review status of the submission from Ambry Genetics: Collection method of the submission from Ambry Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6410
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HGVS dbSNP gnomAD frequency
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

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