ClinVar Miner

List of variants reported as uncertain significance for not provided by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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ClinVar version:
Total variants: 3475
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HGVS dbSNP gnomAD frequency
NM_019076.5(UGT1A8):c.855+63319T>G rs7586110 0.34319
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_004972.4(JAK2):c.1177C>G (p.Leu393Val) rs2230723 0.01376
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) rs150884181 0.00842
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_000298.6(PKLR):c.1269+43T>C rs8177982 0.00718
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_025059.4(CCDC170):c.1033G>A (p.Glu345Lys) rs55868409 0.00538
NM_001608.4(ACADL):c.928_929del (p.Thr310fs) rs549315531 0.00529
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) rs192628905 0.00486
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00470
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642 0.00459
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533 0.00424
NM_020366.4(RPGRIP1):c.930+3A>G rs150107283 0.00419
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln) rs202103485 0.00418
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763 0.00414
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00375
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339 0.00327
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu) rs62642502 0.00312
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg) rs778160013 0.00286
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu) rs149424724 0.00282
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser) rs61737098 0.00277
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val) rs34246477 0.00274
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) rs34082669 0.00268
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) rs149441716 0.00259
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_019077.3(UGT1A7):c.352G>T (p.Asp118Tyr) rs140814031 0.00252
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744 0.00249
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399 0.00247
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val) rs116464756 0.00241
NM_006310.4(NPEPPS):c.2617G>C (p.Glu873Gln) rs34598464 0.00240
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) rs149748934 0.00240
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335 0.00236
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) rs41545019 0.00233
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
NM_001093.4(ACACB):c.134A>G (p.Gln45Arg) rs139767464 0.00226
NM_000552.5(VWF):c.385C>A (p.Leu129Met) rs61753991 0.00225
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr) rs55724159 0.00220
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) rs202071528 0.00219
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390 0.00219
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448 0.00217
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379 0.00212
NM_003954.5(MAP3K14):c.2290A>G (p.Thr764Ala) rs56302559 0.00209
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met) rs141032388 0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile) rs76773981 0.00207
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala) rs143456757 0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_001358263.1(HK1):c.75+20082A>G rs187500777 0.00198
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799 0.00196
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293 0.00188
NM_006437.4(PARP4):c.3777A>T (p.Glu1259Asp) rs61739727 0.00185
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp) rs147410912 0.00176
NM_006587.4(CORIN):c.1081G>A (p.Val361Met) rs139499566 0.00175
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_019076.5(UGT1A8):c.855+64203C>A rs141393523 0.00172
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_000178.4(GSS):c.973C>T (p.Pro325Ser) rs11905938 0.00171
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_002296.4(LBR):c.866G>A (p.Gly289Glu) rs148541545 0.00171
NM_002439.5(MSH3):c.1897-12T>A rs56244266 0.00171
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys) rs143459302 0.00169
NM_003696.3(OR6A2):c.447_456del (p.Met149fs) rs555709554 0.00169
NM_000552.5(VWF):c.8378T>C (p.Val2793Ala) rs143743709 0.00168
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00167
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00163
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn) rs112884419 0.00161
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189 0.00160
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_001142864.4(PIEZO1):c.4363G>A (p.Ala1455Thr) rs191656121 0.00156
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile) rs150672767 0.00156
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn) rs80120302 0.00153
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr) rs200382813 0.00153
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) rs144060377 0.00151
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met) rs10034957 0.00151
NM_000637.5(GSR):c.866T>C (p.Val289Ala) rs151187899 0.00150
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val) rs148337824 0.00150
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys) rs201597047 0.00150
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809 0.00149
NM_001093.4(ACACB):c.2872G>A (p.Val958Met) rs139511102 0.00147
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) rs142990800 0.00147
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His) rs76458556 0.00145
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689 0.00145
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_000316.3(PTH1R):c.988+16G>A rs140651831 0.00136
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_181882.3(PRX):c.3838G>C (p.Glu1280Gln) rs146205352 0.00135
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His) rs201845149 0.00134
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_152611.5(LRRN4):c.88G>A (p.Val30Ile) rs202129771 0.00130
NM_000552.5(VWF):c.304G>A (p.Val102Met) rs147514785 0.00127
NM_001146105.2(PARP9):c.1652T>C (p.Ile551Thr) rs143155766 0.00127
NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu) rs190791051 0.00126
NM_000642.3(AGL):c.1810T>G (p.Phe604Val) rs138105395 0.00125
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052 0.00124
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527 0.00123
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468 0.00123
NM_003501.3(ACOX3):c.1814C>T (p.Ala605Val) rs143748739 0.00123
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00122
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp) rs61754767 0.00121
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) rs138655269 0.00121
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_001377229.1(DISP1):c.1322C>T (p.Thr441Met) rs114523965 0.00120
NM_003567.4(BCAR3):c.1073G>A (p.Ser358Asn) rs142961077 0.00120
NM_021939.4(FKBP10):c.1667G>A (p.Arg556His) rs138281924 0.00120
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln) rs61755431 0.00119
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu) rs141783863 0.00119
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu) rs375721812 0.00118
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) rs200511900 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_013373.4(ZDHHC8):c.761T>C (p.Val254Ala) rs147362841 0.00116
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_003004.3(SECTM1):c.523C>T (p.Gln175Ter) rs139132437 0.00115
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510 0.00113
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu) rs202127176 0.00112
NM_000180.4(GUCY2D):c.2164C>T (p.Arg722Trp) rs34331388 0.00111
NM_000552.5(VWF):c.974G>T (p.Cys325Phe) rs11837584 0.00111
NM_001099409.3(EHBP1L1):c.3245A>G (p.Asp1082Gly) rs185664667 0.00111
NM_003322.6(TULP1):c.797G>T (p.Gly266Val) rs150480343 0.00111
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser) rs201950081 0.00109
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile) rs140942230 0.00109
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_001010985.3(MYBPHL):c.763C>T (p.Arg255Ter) rs139849511 0.00108
NM_001127671.2(LIFR):c.670A>G (p.Ile224Val) rs151282774 0.00108
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139 0.00108
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met) rs201226914 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00105
NM_001350145.3(PATJ):c.5137G>A (p.Gly1713Arg) rs141549230 0.00105
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr) rs201771255 0.00105
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His) rs759627248 0.00103
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598 0.00103
NM_002838.5(PTPRC):c.1297G>A (p.Asp433Asn) rs140403368 0.00103
NM_178493.6(NOTUM):c.1279A>G (p.Thr427Ala) rs141138398 0.00102
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064 0.00101
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys) rs144829001 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_025132.4(WDR19):c.2365G>A (p.Gly789Ser) rs199904529 0.00099
NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly) rs148600818 0.00099
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala) rs144217005 0.00098
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) rs200230894 0.00098
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633 0.00097
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_019590.5(KIAA1217):c.2698T>C (p.Ser900Pro) rs147898647 0.00096
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826 0.00095
NM_002335.4(LRP5):c.263A>G (p.Lys88Arg) rs78219242 0.00095
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418 0.00094
NM_032447.5(FBN3):c.3088G>A (p.Asp1030Asn) rs142237067 0.00094
NM_004239.4(TRIP11):c.1589G>A (p.Ser530Asn) rs138304419 0.00093
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser) rs147826200 0.00093
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro) rs143779235 0.00092
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser) rs149894086 0.00092
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser) rs116320983 0.00091
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser) rs142250261 0.00091
NM_001457.4(FLNB):c.2453G>A (p.Arg818Gln) rs151259375 0.00091
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) rs202217097 0.00091
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val) rs200170585 0.00090
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu) rs140368756 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907 0.00089
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile) rs139790668 0.00088
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_001291303.3(FAT4):c.3682C>G (p.Gln1228Glu) rs200227715 0.00087
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala) rs149388376 0.00086
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) rs148035648 0.00085
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu) rs142461689 0.00084
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys) rs61745147 0.00083
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352 0.00083
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327 0.00083
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile) rs2229490 0.00083
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740 0.00083
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182 0.00079
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met) rs143728180 0.00078
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala) rs530387460 0.00077
NM_002335.4(LRP5):c.1413-7T>A rs141889567 0.00077
NM_003737.4(DCHS1):c.704G>A (p.Arg235Gln) rs143767864 0.00077
NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln) rs145637617 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649 0.00076
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00075
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu) rs117188693 0.00075
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445 0.00074
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_018979.4(WNK1):c.2459C>G (p.Ser820Cys) rs74056058 0.00074
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr) rs55831733 0.00074
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275 0.00073
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_001244008.2(KIF1A):c.1208-40G>A rs375833834 0.00073
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala) rs201910178 0.00073
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro) rs199537186 0.00073
NM_000243.3(MEFV):c.277+6C>T rs7199464 0.00071
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341 0.00071
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys) rs145268073 0.00070
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_002471.4(MYH6):c.3980C>T (p.Ala1327Val) rs148558068 0.00070
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys) rs146505418 0.00068
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn) rs145675502 0.00068
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr) rs374298000 0.00068
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr) rs200266424 0.00068
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met) rs192347853 0.00067
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser) rs202016242 0.00066
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00066
NM_181776.3(SLC36A2):c.1411G>A (p.Asp471Asn) rs140682366 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His) rs146326769 0.00065
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244 0.00065
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_001142864.4(PIEZO1):c.3050T>C (p.Leu1017Pro) rs969200104 0.00064
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile) rs200596739 0.00064
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn) rs117688560 0.00064
NM_006254.4(PRKCD):c.1043A>G (p.Asn348Ser) rs33911937 0.00064
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn) rs201963605 0.00064
NM_000222.3(KIT):c.503C>T (p.Ala168Val) rs149092990 0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 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_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) rs145048530 0.00063
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_025132.4(WDR19):c.1030C>G (p.His344Asp) rs76599296 0.00063
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00063
NM_001142864.4(PIEZO1):c.6661-12T>G rs540049109 0.00062
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser) rs146042595 0.00062
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) rs148414587 0.00061
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001291303.3(FAT4):c.5792A>G (p.Tyr1931Cys) rs139716832 0.00061
NM_014065.4(ASTE1):c.656C>T (p.Ala219Val) rs140373702 0.00061
NM_015271.5(TRIM2):c.1077C>T (p.Gly359=) rs116558260 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) rs200115167 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_001282426.2(PIK3CG):c.1076G>A (p.Arg359His) rs144565710 0.00059
NM_020779.4(WDR35):c.1227A>G (p.Thr409=) rs148828104 0.00059
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His) rs200555745 0.00058
NM_002661.5(PLCG2):c.77C>T (p.Thr26Met) rs189301790 0.00058
NM_003640.5(ELP1):c.3213G>C (p.Glu1071Asp) rs140024352 0.00058
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln) rs72647372 0.00058
NR_003051.3(RMRP):n.-12A>C rs372044910 0.00058
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_001256012.3(MYH10):c.3276C>A (p.Asp1092Glu) rs138732743 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_005529.7(HSPG2):c.8354C>T (p.Pro2785Leu) rs151288507 0.00057
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 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_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu) rs538640563 0.00056
NM_001159773.2(CANT1):c.1063G>A (p.Asp355Asn) rs145516713 0.00056
NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys) rs143513466 0.00056
NM_005245.4(FAT1):c.6012T>G (p.Ile2004Met) rs200115380 0.00056
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His) rs139327086 0.00056
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser) rs146983090 0.00054
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp) rs78598639 0.00054
NM_005529.7(HSPG2):c.2549G>A (p.Arg850His) rs140392638 0.00054
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919 0.00053
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00053
NM_001142864.4(PIEZO1):c.7006C>T (p.Arg2336Trp) rs374203151 0.00053
NM_017553.3(INO80):c.2998C>T (p.Arg1000Cys) rs149600837 0.00053
NM_133379.5(TTN):c.14812A>G (p.Met4938Val) rs145581345 0.00053
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met) rs142580756 0.00052
NM_000384.3(APOB):c.895T>G (p.Phe299Val) rs72653060 0.00051
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met) rs139814109 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln) rs140573963 0.00051
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn) rs201415651 0.00051
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val) rs142518115 0.00051
NM_025132.4(WDR19):c.490G>A (p.Val164Ile) rs199514431 0.00051
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn) rs772788410 0.00050
NM_003501.3(ACOX3):c.311C>T (p.Pro104Leu) rs114891471 0.00050
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00050
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440 0.00050
NM_015512.5(DNAH1):c.2926G>A (p.Ala976Thr) rs181919231 0.00050
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557 0.00049
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00049
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510 0.00049
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly) rs201601992 0.00049
NM_004517.4(ILK):c.157T>A (p.Leu53Met) rs200336608 0.00049
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_014945.5(ABLIM3):c.1537C>T (p.Arg513Cys) rs148988138 0.00049
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016 0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_001039213.4(CEACAM16):c.781G>A (p.Glu261Lys) rs201188632 0.00048
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile) rs187264529 0.00048
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_001377.3(DYNC2H1):c.6093T>G (p.Asp2031Glu) rs372641908 0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615 0.00047
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479 0.00046
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_018972.4(GDAP1):c.574C>A (p.Leu192Ile) rs144199299 0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_032409.3(PINK1):c.1147G>A (p.Ala383Thr) rs45515602 0.00046
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr) rs141027782 0.00045
NM_001355436.2(SPTB):c.5942G>A (p.Arg1981His) rs146513976 0.00045
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_003923.3(FOXH1):c.1049A>G (p.Asp350Gly) rs138792321 0.00045
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410 0.00045
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) rs201153804 0.00045
NM_001114134.2(EPB42):c.581G>A (p.Arg194His) rs146348439 0.00044
NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala) rs371084271 0.00044
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_001235.5(SERPINH1):c.97G>C (p.Ala33Pro) rs150061926 0.00043
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser) rs142718547 0.00043
NM_004563.4(PCK2):c.1679G>A (p.Arg560Gln) rs144284959 0.00043
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_025132.4(WDR19):c.3707G>A (p.Gly1236Glu) rs141039852 0.00043
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645 0.00042
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270 0.00042
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile) rs150550013 0.00042
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His) rs201439151 0.00041
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys) rs201406712 0.00041
NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro) rs57307513 0.00041
NM_001142864.4(PIEZO1):c.3434T>C (p.Val1145Ala) rs550993341 0.00041
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) rs370390570 0.00041
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys) rs189652973 0.00041
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) rs150815925 0.00041
NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe) rs201514157 0.00041
NM_006461.4(SPAG5):c.3386T>A (p.Met1129Lys) rs143230550 0.00041
NM_000065.5(C6):c.186A>C (p.Glu62Asp) rs200359838 0.00040
NM_000178.4(GSS):c.598G>A (p.Gly200Ser) rs193267972 0.00040
NM_000298.6(PKLR):c.92C>T (p.Ala31Val) rs150077703 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_019075.4(UGT1A10):c.855+44822C>T rs151080578 0.00040
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val) rs367750869 0.00040
NM_001146105.2(PARP9):c.2385T>A (p.Asp795Glu) rs139596846 0.00039
NM_001146105.2(PARP9):c.2387A>C (p.Tyr796Ser) rs151012219 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_025215.6(PUS1):c.821G>A (p.Arg274Gln) rs138561555 0.00039
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000245.4(MET):c.901A>G (p.Thr301Ala) rs201687037 0.00038
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000552.5(VWF):c.8084C>G (p.Pro2695Arg) rs76459136 0.00038
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_005529.7(HSPG2):c.7444C>G (p.Gln2482Glu) rs140049357 0.00038
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852 0.00036
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146 0.00036
NM_002661.5(PLCG2):c.707C>T (p.Pro236Leu) rs199760975 0.00036
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_004937.3(CTNS):c.94G>A (p.Val32Ile) rs146684402 0.00036
NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile) rs200506675 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_012452.3(TNFRSF13B):c.604C>T (p.Arg202Cys) rs143562358 0.00036
NM_020884.7(MYH7B):c.5206A>C (p.Lys1736Gln) rs201800075 0.00036
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843 0.00036
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) rs139968089 0.00035
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met) rs191786700 0.00035
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_016239.4(MYO15A):c.4976G>A (p.Arg1659Gln) rs141473928 0.00035
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile) rs145057248 0.00035
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys) rs369531662 0.00035
NM_000178.4(GSS):c.631C>G (p.Gln211Glu) rs370351723 0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_001081.4(CUBN):c.1349G>A (p.Gly450Asp) rs146463364 0.00034
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His) rs139846706 0.00034
NM_015271.5(TRIM2):c.1094C>G (p.Thr365Ser) rs146686472 0.00034
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225 0.00034
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_145020.5(CFAP53):c.1101C>A (p.Asp367Glu) rs369539291 0.00034
NM_000459.5(TEK):c.1507A>G (p.Thr503Ala) rs200574110 0.00033
NM_001006658.3(CR2):c.2006A>G (p.His669Arg) rs139230275 0.00033
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839 0.00032
NM_000552.5(VWF):c.6937C>T (p.Arg2313Cys) rs184921605 0.00032
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) rs145387221 0.00032
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) rs202243588 0.00032
NM_006206.6(PDGFRA):c.2306A>T (p.Lys769Met) rs373061721 0.00032
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys) rs554690506 0.00031
NM_001142864.4(PIEZO1):c.3181C>G (p.Pro1061Ala) rs748155949 0.00031
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln) rs148099152 0.00031
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met) rs117287351 0.00031
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 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_001276345.2(TNNT2):c.720-13_720-11del rs397516480 0.00031
NM_001366385.1(CARD14):c.1805C>T (p.Ser602Leu) rs201285077 0.00031
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) rs113696032 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_005529.7(HSPG2):c.6289G>A (p.Val2097Met) rs143419262 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly) rs147540469 0.00031
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile) rs61745496 0.00031
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys) rs139002629 0.00030
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp) rs201746476 0.00030
NM_001302769.2(PARD3B):c.3574A>T (p.Thr1192Ser) rs372502220 0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu) rs550358395 0.00029
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886 0.00029
NM_001142864.4(PIEZO1):c.5647C>T (p.Arg1883Trp) rs200031013 0.00029
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala) rs139166382 0.00029
NM_001365951.3(KIF1B):c.2115+7081C>T rs376558549 0.00029
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr) rs143392370 0.00029
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 0.00029
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_019075.4(UGT1A10):c.855+44982G>C rs72551332 0.00029
NM_053025.4(MYLK):c.2125G>A (p.Val709Met) rs112537316 0.00029
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00029
NM_198525.3(KIF7):c.2675G>A (p.Arg892His) rs143866575 0.00029
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001365951.3(KIF1B):c.2115+6313G>A rs374263753 0.00028
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val) rs148893135 0.00028
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys) rs141200414 0.00028
NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp) rs146286188 0.00028
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_005689.4(ABCB6):c.2215C>T (p.Arg739Cys) rs141840760 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln) rs201160833 0.00028
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732 0.00028
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400 0.00027
NM_001184.4(ATR):c.1904G>A (p.Arg635Gln) rs202162034 0.00027
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile) rs138338096 0.00027
NM_001985.3(ETFB):c.709G>A (p.Val237Ile) rs149129214 0.00027
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000178.4(GSS):c.596A>G (p.Tyr199Cys) rs138659144 0.00026
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val) rs146854942 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_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00026
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348 0.00026
NM_001062.4(TCN1):c.980C>G (p.Pro327Arg) rs36044892 0.00026
NM_001244008.2(KIF1A):c.4985G>A (p.Arg1662His) rs199557318 0.00026
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val) rs199804623 0.00026
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479 0.00026
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993 0.00026
NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser) rs183939928 0.00026
NM_001302769.2(PARD3B):c.3457G>C (p.Gly1153Arg) rs556736288 0.00026
NM_001350145.3(PATJ):c.4546G>T (p.Val1516Leu) rs144983546 0.00026
NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser) rs143599352 0.00026
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg) rs104895423 0.00026
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu) rs139519507 0.00026
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490 0.00026
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys) rs201399968 0.00026
NM_080823.4(SRMS):c.1145C>T (p.Pro382Leu) rs374780062 0.00026
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_001243133.2(NLRP3):c.2668G>T (p.Val890Leu) rs193085132 0.00025
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249 0.00025
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg) rs368502650 0.00025
NM_001355436.2(SPTB):c.1261G>C (p.Glu421Gln) rs142982338 0.00025
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys) rs143293179 0.00025
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly) rs201984007 0.00025
NM_003567.4(BCAR3):c.2273G>A (p.Arg758Gln) rs140641625 0.00025
NM_005529.7(HSPG2):c.2633G>A (p.Arg878His) rs149479865 0.00025
NM_006371.5(CRTAP):c.49G>A (p.Val17Met) rs200576259 0.00025
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr) rs143632883 0.00025
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser) rs370608825 0.00024
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000342.4(SLC4A1):c.337G>A (p.Val113Ile) rs142757938 0.00024
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) rs148498577 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) rs375818733 0.00024
NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu) rs5743275 0.00024
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850 0.00024
NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser) rs113605039 0.00024
NM_005051.3(QARS1):c.1246G>A (p.Val416Ile) rs147076980 0.00024
NM_006310.4(NPEPPS):c.2158G>A (p.Ala720Thr) rs368658252 0.00024
NM_017636.4(TRPM4):c.566C>T (p.Ala189Val) rs145501662 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_213655.5(WNK1):c.3371G>A (p.Gly1124Glu) rs201042606 0.00024
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) rs62621089 0.00023
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_001364905.1(LRBA):c.3262G>C (p.Glu1088Gln) rs142075710 0.00023
NM_004239.4(TRIP11):c.950A>T (p.Asp317Val) rs140416653 0.00023
NM_014653.4(WSCD2):c.721G>A (p.Asp241Asn) rs183614363 0.00023
NM_015836.4(WARS2):c.404G>A (p.Arg135Gln) rs147962776 0.00023
NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg) rs372214186 0.00023
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr) rs376067427 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro) rs146576868 0.00023
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys) rs139089832 0.00023
NM_000071.3(CBS):c.1273G>A (p.Val425Met) rs138211175 0.00022
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln) rs142540482 0.00022
NM_001127671.2(LIFR):c.3221A>G (p.Asp1074Gly) rs147058538 0.00022
NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu) rs148355969 0.00022
NM_001382567.1(STIM1):c.458C>T (p.Thr153Ile) rs144602692 0.00022
NM_001498.4(GCLC):c.1091A>G (p.Asp364Gly) rs151321990 0.00022
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179 0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser) rs200751434 0.00022
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_182925.5(FLT4):c.1133G>A (p.Arg378His) rs200763913 0.00022
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 0.00021
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305 0.00021
NM_000178.4(GSS):c.1054G>A (p.Ala352Thr) rs143974068 0.00021
NM_000188.3(HK1):c.1433A>G (p.His478Arg) rs144282713 0.00021
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_000298.6(PKLR):c.507G>A (p.Gly169=) rs201674983 0.00021
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582 0.00021
NM_001142864.4(PIEZO1):c.3000C>A (p.Phe1000Leu) rs568280615 0.00021
NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met) rs200511467 0.00021
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457 0.00021
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) rs191927501 0.00021
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377 0.00021
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00021
NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu) rs150078153 0.00021
NM_001377500.1(EFCC1):c.1529G>A (p.Arg510Gln) rs144132700 0.00021
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn) rs371244800 0.00021
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_004239.4(TRIP11):c.1375G>A (p.Ala459Thr) rs372171033 0.00021
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_006269.2(RP1):c.6055G>A (p.Gly2019Ser) rs137853908 0.00021
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_018979.4(WNK1):c.5833C>T (p.Arg1945Cys) rs117016551 0.00021
NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly) rs140353351 0.00021
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val) rs104895151 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp) rs201859188 0.00020
NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys) rs375816870 0.00020
NM_001666.5(ARHGAP4):c.2113G>A (p.Val705Ile) rs369228747 0.00020
NM_001753.5(CAV1):c.54C>G (p.Ile18Met) rs150051547 0.00020
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_004563.4(PCK2):c.1079C>T (p.Thr360Ile) rs141823645 0.00020
NM_005529.7(HSPG2):c.4598C>T (p.Pro1533Leu) rs367842568 0.00020
NM_005529.7(HSPG2):c.8149G>A (p.Ala2717Thr) rs145524347 0.00020
NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln) rs567310076 0.00020
NM_145201.6(NAPRT):c.692C>T (p.Ala231Val) rs201161077 0.00020
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 0.00019
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618 0.00019
NM_000088.4(COL1A1):c.3100-6C>T rs377123276 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000151.4(G6PC1):c.81G>C (p.Gln27His) rs371611000 0.00019
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser) rs142422341 0.00019
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser) rs145900055 0.00019
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) rs150691494 0.00019
NM_001081.4(CUBN):c.5926+5G>A rs143301088 0.00019
NM_001109754.4(PTPRB):c.3448G>T (p.Gly1150Trp) rs147424169 0.00019
NM_001142864.4(PIEZO1):c.3778G>A (p.Val1260Ile) rs776788949 0.00019
NM_001142864.4(PIEZO1):c.4291G>C (p.Ala1431Pro) rs200653120 0.00019
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) rs201420077 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala) rs145940356 0.00019
NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser) rs377612718 0.00019
NM_001364905.1(LRBA):c.3914G>A (p.Arg1305His) rs144754728 0.00019
NM_001377.3(DYNC2H1):c.12909C>A (p.Phe4303Leu) rs191971137 0.00019
NM_001379610.1(SPINK1):c.-53C>T rs367798627 0.00019
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro) rs140516168 0.00019
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394 0.00019
NM_003884.5(KAT2B):c.592A>G (p.Ile198Val) rs182486173 0.00019
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln) rs143706338 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_012330.4(KAT6B):c.625C>T (p.Arg209Cys) rs572706456 0.00019
NM_015512.5(DNAH1):c.11683A>G (p.Met3895Val) rs376301831 0.00019
NM_016156.6(MTMR2):c.1106T>C (p.Ile369Thr) rs200083635 0.00019
NM_019590.5(KIAA1217):c.2740G>C (p.Ala914Pro) rs141672009 0.00019
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_032811.3(TBRG1):c.1234T>C (p.Ter412Arg) rs143285657 0.00019
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00019
NM_054012.4(ASS1):c.299G>A (p.Arg100His) rs138279074 0.00019
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001126121.2(SLC25A19):c.610A>C (p.Lys204Gln) rs145088715 0.00018
NM_001199397.3(NEK1):c.2889G>A (p.Ser963=) rs756830252 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu) rs201586544 0.00018
NM_001498.4(GCLC):c.264-11C>A rs199775302 0.00018
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His) rs201822255 0.00018
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00018
NM_005529.7(HSPG2):c.4571C>T (p.Ala1524Val) rs144546505 0.00018
NM_012452.3(TNFRSF13B):c.171G>C (p.Gln57His) rs149084717 0.00018
NM_015059.3(TLN2):c.5500G>A (p.Glu1834Lys) rs200375758 0.00018
NM_015059.3(TLN2):c.6889G>A (p.Val2297Met) rs200187638 0.00018
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile) rs147532612 0.00018
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met) rs200125037 0.00017
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn) rs201825699 0.00017
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser) rs377198201 0.00017
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly) rs201844450 0.00017
NM_005548.3(KARS1):c.63-2663C>T rs371452227 0.00017
NM_019844.4(SLCO1B3):c.1794_1795del (p.Cys599fs) rs766686725 0.00017
NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met) rs148535388 0.00017
NM_024753.5(TTC21B):c.2339A>T (p.Glu780Val) rs371940683 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys) rs145252144 0.00016
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_000548.5(TSC2):c.2356-15T>A rs189674303 0.00016
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val) rs150923481 0.00016
NM_001034850.3(RETREG1):c.86C>T (p.Pro29Leu) rs528532732 0.00016
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315 0.00016
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys) rs147480076 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001142864.4(PIEZO1):c.1447G>C (p.Val483Leu) rs747301309 0.00016
NM_001142864.4(PIEZO1):c.7183G>A (p.Ala2395Thr) rs1018199395 0.00016
NM_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln) rs773860217 0.00016
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr) rs144693278 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.33367G>A (p.Ala11123Thr) rs200321239 0.00016
NM_001267550.2(TTN):c.36019G>C (p.Glu12007Gln) rs761660130 0.00016
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093 0.00016
NM_001267550.2(TTN):c.80417A>G (p.His26806Arg) rs181766682 0.00016
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756 0.00016
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045 0.00016
NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly) rs117836686 0.00016
NM_001384140.1(PCDH15):c.3127C>T (p.Pro1043Ser) rs189284385 0.00016
NM_001395413.1(POR):c.1208G>A (p.Arg403His) rs72557929 0.00016
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) rs185720909 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_003122.5(SPINK1):c.-142T>C rs755968566 0.00016
NM_003126.4(SPTA1):c.452G>A (p.Gly151Asp) rs199725919 0.00016
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_004444.5(EPHB4):c.1692-8G>A rs372971671 0.00016
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_020320.5(RARS2):c.472_474del (p.Lys158del) rs757743894 0.00016
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn) rs201800819 0.00016
NM_080916.3(DGUOK):c.366G>C (p.Gln122His) rs199645258 0.00016
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959 0.00016
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala) rs376144196 0.00015
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000552.5(VWF):c.4024C>T (p.Arg1342Cys) rs61749404 0.00015
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met) rs201746408 0.00015
NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu) rs374244985 0.00015
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
NM_002626.6(PFKL):c.1537C>T (p.Arg513Cys) rs142506467 0.00015
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile) rs140414666 0.00015
NM_005391.5(PDK3):c.304C>T (p.Pro102Ser) rs375475050 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_021254.4(CFAP298):c.674A>G (p.Gln225Arg) rs374753522 0.00015
NM_133379.5(TTN):c.12724A>G (p.Ser4242Gly) rs541264551 0.00015
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val) rs200642204 0.00014
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529 0.00014
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg) rs112739451 0.00014
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr) rs201989712 0.00014
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) rs371738874 0.00014
NM_000552.5(VWF):c.706C>T (p.Arg236Cys) rs140912382 0.00014
NM_000744.7(CHRNA4):c.1360G>A (p.Gly454Ser) rs78306886 0.00014
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916 0.00014
NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met) rs782180774 0.00014
NM_001142864.4(PIEZO1):c.5656G>A (p.Ala1886Thr) rs757753448 0.00014
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala) rs868678918 0.00014
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr) rs138001307 0.00014
NM_001199397.3(NEK1):c.1387G>A (p.Ala463Thr) rs748009953 0.00014
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003 0.00014
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00014
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly) rs145373396 0.00014
NM_001370466.1(NOD2):c.2465+2dup rs748508924 0.00014
NM_001395413.1(POR):c.1255T>G (p.Trp419Gly) rs536353066 0.00014
NM_001849.4(COL6A2):c.2711C>T (p.Ala904Val) rs376665722 0.00014
NM_003126.4(SPTA1):c.6026G>A (p.Arg2009His) rs188580757 0.00014
NM_003126.4(SPTA1):c.749G>A (p.Arg250His) rs759192785 0.00014
NM_004239.4(TRIP11):c.5719+2T>C rs199736345 0.00014
NM_004999.4(MYO6):c.2472T>G (p.Ile824Met) rs368132510 0.00014
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) rs138800446 0.00014
NM_006231.4(POLE):c.1583C>T (p.Thr528Met) rs116263919 0.00014
NM_006506.5(RASA2):c.1079C>G (p.Ala360Gly) rs369032376 0.00014
NM_006767.4(LZTR1):c.2407-18G>A rs542841506 0.00014
NM_014845.6(FIG4):c.1348C>T (p.Arg450Cys) rs201072058 0.00014
NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser) rs146450828 0.00014
NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met) rs754321329 0.00014
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met) rs143319658 0.00014
NM_000071.3(CBS):c.1072G>A (p.Val358Met) rs148589243 0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) rs200133000 0.00013
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln) rs397508395 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) rs373799322 0.00013
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln) rs1800569 0.00013
NM_001009944.3(PKD1):c.9067A>G (p.Met3023Val) rs17135779 0.00013
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) rs137893207 0.00013
NM_001142864.4(PIEZO1):c.4289A>T (p.Glu1430Val) rs202066744 0.00013
NM_001267550.2(TTN):c.12889T>G (p.Cys4297Gly) rs377063950 0.00013
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His) rs200941841 0.00013
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) rs375693396 0.00013
NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile) rs747531733 0.00013
NM_002626.6(PFKL):c.343G>A (p.Val115Ile) rs371821359 0.00013
NM_002907.4(RECQL):c.468T>G (p.Ile156Met) rs777214281 0.00013
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702 0.00013
NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn) rs121908135 0.00013
NM_133379.5(TTN):c.15778A>G (p.Ile5260Val) rs369214339 0.00013
NM_172201.2(KCNE2):c.-13+5G>A rs786205806 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr) rs199473146 0.00012
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552 0.00012
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys) rs552562531 0.00012
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala) rs35222922 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile) rs374394719 0.00012
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser) rs145037203 0.00012
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) rs537908254 0.00012
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg) rs80338765 0.00012
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005 0.00012
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp) rs142354704 0.00012
NM_000065.5(C6):c.1205T>C (p.Ile402Thr) rs139261476 0.00011
NM_000088.4(COL1A1):c.144T>A (p.His48Gln) rs374065372 0.00011
NM_000091.5(COL4A3):c.685C>T (p.Arg229Trp) rs759074046 0.00011
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn) rs764274816 0.00011
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val) rs199937453 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_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000463.3(UGT1A1):c.1495G>A (p.Val499Met) rs199723856 0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000651.6(CR1):c.6325G>A (p.Gly2109Ser) rs369023282 0.00011
NM_001033855.3(DCLRE1C):c.1952T>C (p.Phe651Ser) rs144641461 0.00011
NM_001037.5(SCN1B):c.448+40G>A rs199685662 0.00011
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys) rs377662483 0.00011
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys) rs201774098 0.00011
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) rs200024502 0.00011
NM_001142864.4(PIEZO1):c.1370G>A (p.Arg457His) rs371267171 0.00011
NM_001145809.2(MYH14):c.1067C>T (p.Thr356Met) rs151082668 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala) rs138750421 0.00011
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu) rs201945791 0.00011
NM_001355436.2(SPTB):c.4891C>T (p.Arg1631Cys) rs372503030 0.00011
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter) rs759003928 0.00011
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_002471.4(MYH6):c.7G>A (p.Asp3Asn) rs371667049 0.00011
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val) rs113316011 0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_003126.4(SPTA1):c.143A>G (p.Lys48Arg) rs121918644 0.00011
NM_003239.5(TGFB3):c.757G>A (p.Val253Met) rs532517095 0.00011
NM_005529.7(HSPG2):c.11602G>A (p.Val3868Met) rs368497178 0.00011
NM_006182.4(DDR2):c.784G>A (p.Glu262Lys) rs371402503 0.00011
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys) rs143247306 0.00011
NM_016169.4(SUFU):c.1245C>T (p.Gly415=) rs144158469 0.00011
NM_017636.4(TRPM4):c.1139C>T (p.Ala380Val) rs150894548 0.00011
NM_030973.4(MED25):c.1438C>G (p.Leu480Val) rs148214958 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) rs377231739 0.00011
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000095.3(COMP):c.1894G>A (p.Glu632Lys) rs144170209 0.00010
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000283.4(PDE6B):c.2363G>A (p.Arg788His) rs777999727 0.00010
NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys) rs150838063 0.00010
NM_000384.3(APOB):c.434C>T (p.Pro145Leu) rs181737266 0.00010
NM_000440.3(PDE6A):c.103G>A (p.Asp35Asn) rs374847529 0.00010
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238 0.00010
NM_001081.4(CUBN):c.6268A>G (p.Lys2090Glu) rs201374966 0.00010
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) rs10776 0.00010
NM_001142864.4(PIEZO1):c.2759G>A (p.Arg920Gln) rs752372837 0.00010
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys) rs371552518 0.00010
NM_001267550.2(TTN):c.34954G>T (p.Val11652Leu) rs371752190 0.00010
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00010
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00010
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719 0.00010
NM_001379180.1(ESRRB):c.1177G>A (p.Glu393Lys) rs747893418 0.00010
NM_001605.3(AARS1):c.497T>G (p.Ile166Ser) rs199997425 0.00010
NM_001972.4(ELANE):c.23C>T (p.Ala8Val) rs201961347 0.00010
NM_002471.4(MYH6):c.4264C>T (p.Arg1422Trp) rs200465713 0.00010
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys) rs111033564 0.00010
NM_003322.6(TULP1):c.1133G>A (p.Arg378His) rs148749577 0.00010
NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr) rs374993642 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_004655.4(AXIN2):c.1376G>A (p.Arg459His) rs368525111 0.00010
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) rs370644634 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005518.4(HMGCS2):c.175C>A (p.Leu59Met) rs181428774 0.00010
NM_005529.7(HSPG2):c.3119A>G (p.Glu1040Gly) rs370768382 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn) rs146627447 0.00010
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 0.00010
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159 0.00010
NM_020247.5(COQ8A):c.626C>T (p.Thr209Met) rs764173526 0.00010
NM_022124.6(CDH23):c.137C>T (p.Thr46Met) rs727504613 0.00010
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_032119.4(ADGRV1):c.10768A>T (p.Ser3590Cys) rs183319660 0.00010
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr) rs375806217 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010 0.00009
NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys) rs138396959 0.00009
NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val) rs777906405 0.00009
NM_000141.5(FGFR2):c.1565A>T (p.Asp522Val) rs756076618 0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000180.4(GUCY2D):c.1138C>T (p.Arg380Cys) rs775105018 0.00009
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys) rs143033456 0.00009
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603 0.00009
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr) rs143980575 0.00009
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=) rs55928397 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp) rs397508814 0.00009
NM_000717.5(CA4):c.415A>T (p.Met139Leu) rs185658468 0.00009
NM_001005918.2(ATP7B):c.-116G>A rs965523214 0.00009
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp) rs751031560 0.00009
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001105206.3(LAMA4):c.3817T>C (p.Phe1273Leu) rs781966924 0.00009
NM_001105578.2(SYCE2):c.178T>C (p.Phe60Leu) rs746914782 0.00009
NM_001130823.3(DNMT1):c.1043C>T (p.Pro348Leu) rs370592431 0.00009
NM_001142864.4(PIEZO1):c.1387G>A (p.Ala463Thr) rs768658743 0.00009
NM_001142864.4(PIEZO1):c.3083G>A (p.Arg1028His) rs750862705 0.00009
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) rs750027720 0.00009
NM_001142864.4(PIEZO1):c.6553G>A (p.Ala2185Thr) rs376951269 0.00009
NM_001148.6(ANK2):c.877G>A (p.Asp293Asn) rs752213208 0.00009
NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=) rs375309925 0.00009
NM_001267550.2(TTN):c.102353G>A (p.Arg34118Gln) rs551905996 0.00009
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met) rs552058608 0.00009
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722 0.00009
NM_001267550.2(TTN):c.40082T>A (p.Ile13361Asn) rs568151115 0.00009
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met) rs372812312 0.00009
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00009
NM_001355436.2(SPTB):c.3395C>T (p.Thr1132Met) rs186859277 0.00009
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln) rs141173028 0.00009
NM_001365536.1(SCN9A):c.2085A>G (p.Ile695Met) rs199588089 0.00009
NM_001365536.1(SCN9A):c.361A>C (p.Lys121Gln) rs200486515 0.00009
NM_001366122.1(KCP):c.3715G>A (p.Val1239Met) rs749697029 0.00009
NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe) rs149002807 0.00009
NM_001395413.1(POR):c.1933G>A (p.Asp645Asn) rs372930296 0.00009
NM_002047.4(GARS1):c.19G>T (p.Val7Leu) rs201132307 0.00009
NM_002471.4(MYH6):c.3139C>T (p.Arg1047Cys) rs755565288 0.00009
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018 0.00009
NM_006005.3(WFS1):c.173C>T (p.Ala58Val) rs369671890 0.00009
NM_006005.3(WFS1):c.511G>A (p.Asp171Asn) rs758281375 0.00009
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg) rs140466726 0.00009
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) rs563231684 0.00009
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_014317.5(PDSS1):c.968C>T (p.Thr323Ile) rs370033107 0.00009
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg) rs146900850 0.00009
NM_021939.4(FKBP10):c.473T>C (p.Val158Ala) rs781874365 0.00009
NM_022114.4(PRDM16):c.2953G>A (p.Asp985Asn) rs758565663 0.00009
NM_024577.4(SH3TC2):c.3712C>A (p.Leu1238Met) rs757548779 0.00009
NM_130837.3(OPA1):c.2099A>G (p.Asn700Ser) rs142694017 0.00009
NM_181882.3(PRX):c.862G>A (p.Val288Met) rs568618329 0.00009
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val) rs140850000 0.00009
NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796 0.00008
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu) rs373056282 0.00008
NM_000316.3(PTH1R):c.1742C>G (p.Pro581Arg) rs146163188 0.00008
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe) rs143456784 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430 0.00008
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr) rs184724618 0.00008
NM_000492.4(CFTR):c.3592G>A (p.Val1198Met) rs576710089 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_001110556.2(FLNA):c.4304-25_4304-17del rs782740969 0.00008
NM_001360.3(DHCR7):c.58A>G (p.Asn20Asp) rs772572550 0.00008
NM_001370466.1(NOD2):c.2446G>A (p.Glu816Lys) rs104895445 0.00008
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met) rs368451573 0.00008
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr) rs145074004 0.00008
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) rs387906874 0.00008
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe) rs1431507005 0.00008
NM_005591.4(MRE11):c.913C>T (p.Arg305Trp) rs372000848 0.00008
NM_006231.4(POLE):c.5480C>T (p.Ser1827Leu) rs763031537 0.00008
NM_006461.4(SPAG5):c.3354+1G>A rs752232373 0.00008
NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys) rs373488966 0.00008
NM_014391.3(ANKRD1):c.133C>G (p.Leu45Val) rs372030578 0.00008
NM_014845.6(FIG4):c.101C>T (p.Thr34Met) rs375691683 0.00008
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr) rs61733203 0.00008
NM_014931.4(PPP6R1):c.830A>T (p.Glu277Val) rs774457916 0.00008
NM_016169.4(SUFU):c.1028G>A (p.Arg343His) rs79299301 0.00008
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180 0.00008
NM_024637.5(GAL3ST4):c.538C>T (p.Arg180Cys) rs374392589 0.00008
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg) rs201983087 0.00008
NM_080680.3(COL11A2):c.539G>A (p.Arg180His) rs142462583 0.00008
NM_182961.4(SYNE1):c.9448G>A (p.Ala3150Thr) rs141821444 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912 0.00007
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) rs148317871 0.00007
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) rs375253473 0.00007
NM_000431.4(MVK):c.331G>A (p.Ala111Thr) rs371257609 0.00007
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp) rs557113034 0.00007
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu) rs78742051 0.00007
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_001013703.4(EIF2AK4):c.668C>G (p.Ala223Gly) rs199807868 0.00007
NM_001103.4(ACTN2):c.899C>T (p.Thr300Met) rs144025957 0.00007
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930 0.00007
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440 0.00007
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349 0.00007
NM_001355436.2(SPTB):c.3029G>A (p.Arg1010His) rs556377923 0.00007
NM_001370259.2(MEN1):c.1391C>T (p.Ala464Val) rs778728934 0.00007
NM_001457.4(FLNB):c.6221A>G (p.Lys2074Arg) rs148043654 0.00007
NM_001498.4(GCLC):c.646C>G (p.Pro216Ala) rs369815397 0.00007
NM_001711.6(BGN):c.167C>T (p.Thr56Ile) rs199564098 0.00007
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) rs193141883 0.00007
NM_001972.4(ELANE):c.68-13G>A rs371409487 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002386.4(MC1R):c.467T>C (p.Val156Ala) rs201975178 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala) rs368996545 0.00007
NM_004006.3(DMD):c.6953C>T (p.Ala2318Val) rs771215006 0.00007
NM_004360.5(CDH1):c.1289T>G (p.Val430Gly) rs730881665 0.00007
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_004563.4(PCK2):c.1447A>G (p.Thr483Ala) rs541220581 0.00007
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala) rs200544452 0.00007
NM_005529.7(HSPG2):c.7151G>A (p.Arg2384Gln) rs144498303 0.00007
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) rs71524377 0.00007
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890 0.00007
NM_006567.5(FARS2):c.973G>A (p.Asp325Asn) rs764427452 0.00007
NM_007215.4(POLG2):c.328C>G (p.Leu110Val) rs782703026 0.00007
NM_014845.6(FIG4):c.2096G>A (p.Arg699His) rs750091928 0.00007
NM_018127.7(ELAC2):c.1799A>G (p.His600Arg) rs764718787 0.00007
NM_021939.4(FKBP10):c.1556C>T (p.Pro519Leu) rs140883152 0.00007
NM_177438.3(DICER1):c.179C>T (p.Thr60Ile) rs587778228 0.00007
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp) rs755476114 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000089.4(COL1A2):c.949G>A (p.Val317Ile) rs142803502 0.00006
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His) rs568986390 0.00006
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) rs201778577 0.00006
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg) rs368978109 0.00006
NM_000178.4(GSS):c.1318G>A (p.Val440Met) rs371147790 0.00006
NM_000178.4(GSS):c.994C>T (p.Arg332Cys) rs568602749 0.00006
NM_000245.4(MET):c.22G>A (p.Ala8Thr) rs758564871 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) rs184709702 0.00006
NM_000384.3(APOB):c.3449T>A (p.Met1150Lys) rs146223051 0.00006
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_000463.3(UGT1A1):c.1028C>T (p.Ser343Leu) rs144978321 0.00006
NM_000463.3(UGT1A1):c.1156G>A (p.Val386Ile) rs143573365 0.00006
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu) rs36076514 0.00006
NM_000478.6(ALPL):c.40C>T (p.Leu14Phe) rs139214514 0.00006
NM_000492.4(CFTR):c.2145A>C (p.Gln715His) rs141235765 0.00006
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123 0.00006
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn) rs146947665 0.00006
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile) rs772774651 0.00006
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys) rs397508720 0.00006
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_001039141.3(TRIOBP):c.2869C>G (p.Gln957Glu) rs370714631 0.00006
NM_001081.4(CUBN):c.7400A>G (p.Asn2467Ser) rs200197243 0.00006
NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys) rs781860863 0.00006
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys) rs200836471 0.00006
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln) rs769040794 0.00006
NM_001142864.4(PIEZO1):c.2158C>T (p.Arg720Cys) rs781141758 0.00006
NM_001142864.4(PIEZO1):c.6070C>T (p.Arg2024Cys) rs549757408 0.00006
NM_001145809.2(MYH14):c.4219C>T (p.Arg1407Cys) rs535145284 0.00006
NM_001148.6(ANK2):c.11525G>A (p.Arg3842Gln) rs770954138 0.00006
NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn) rs375139170 0.00006
NM_001243133.2(NLRP3):c.2987G>C (p.Cys996Ser) rs199517145 0.00006
NM_001244008.2(KIF1A):c.2269C>G (p.Gln757Glu) rs369410320 0.00006
NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys) rs377032453 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu) rs551063889 0.00006
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala) rs773027240 0.00006
NM_001267550.2(TTN):c.65915G>A (p.Arg21972His) rs200217934 0.00006
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys) rs761241302 0.00006
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg) rs374119634 0.00006
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met) rs760230943 0.00006
NM_001291303.3(FAT4):c.10750C>G (p.Leu3584Val) rs751277769 0.00006
NM_001355436.2(SPTB):c.2290C>T (p.Arg764Trp) rs376198076 0.00006
NM_001355436.2(SPTB):c.5726T>C (p.Phe1909Ser) rs576500528 0.00006
NM_001355436.2(SPTB):c.6499G>A (p.Ala2167Thr) rs112462309 0.00006
NM_001365088.1(SLC12A6):c.338G>A (p.Arg113Gln) rs371696267 0.00006
NM_001372179.1(PABPC1L):c.1517G>A (p.Arg506Gln) rs374958444 0.00006
NM_001377.3(DYNC2H1):c.8882C>T (p.Ala2961Val) rs900234882 0.00006
NM_001379610.1(SPINK1):c.-15C>T rs148434824 0.00006
NM_001457.4(FLNB):c.2968C>T (p.Pro990Ser) rs747564760 0.00006
NM_001457.4(FLNB):c.7690G>A (p.Val2564Ile) rs759652781 0.00006
NM_001498.4(GCLC):c.1486G>T (p.Ala496Ser) rs147154581 0.00006
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051 0.00006
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364 0.00006
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys) rs397516762 0.00006
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) rs369950711 0.00006
NM_002691.4(POLD1):c.14G>A (p.Arg5Gln) rs748471297 0.00006
NM_002972.4(SBF1):c.3968G>A (p.Arg1323Gln) rs746388522 0.00006
NM_002972.4(SBF1):c.4975C>T (p.Arg1659Cys) rs748396110 0.00006
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451 0.00006
NM_003640.5(ELP1):c.1144G>A (p.Gly382Arg) rs776167946 0.00006
NM_003640.5(ELP1):c.3785C>T (p.Thr1262Met) rs199723919 0.00006
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr) rs145819459 0.00006
NM_004281.4(BAG3):c.574G>A (p.Gly192Ser) rs201487919 0.00006
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys) rs200205409 0.00006
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp) rs535956121 0.00006
NM_005548.3(KARS1):c.979A>G (p.Ile327Val) rs372994342 0.00006
NM_005633.4(SOS1):c.2225T>C (p.Ile742Thr) rs767494615 0.00006
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) rs71524360 0.00006
NM_006231.4(POLE):c.5553-12C>G rs766922669 0.00006
NM_006587.4(CORIN):c.1061G>A (p.Arg354His) rs147781342 0.00006
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=) rs139261473 0.00006
NM_014236.4(GNPAT):c.1031G>A (p.Arg344Gln) rs375611364 0.00006
NM_015271.5(TRIM2):c.346G>A (p.Val116Met) rs763365056 0.00006
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu) rs182750960 0.00006
NM_016203.4(PRKAG2):c.514C>G (p.Gln172Glu) rs730880972 0.00006
NM_017636.4(TRPM4):c.3304T>G (p.Ser1102Ala) rs759574423 0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948 0.00006
NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His) rs373241693 0.00006
NM_019075.4(UGT1A10):c.855+45231T>C rs773325642 0.00006
NM_020975.6(RET):c.1894G>A (p.Glu632Lys) rs377767407 0.00006
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254 0.00006
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln) rs759989953 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser) rs587780251 0.00006
NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys) rs202223681 0.00006
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala) rs763880352 0.00006
NM_080863.5(ASB16):c.1055G>A (p.Arg352His) rs369327186 0.00006
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys) rs74315449 0.00006
NM_173495.3(PTCHD1):c.881G>A (p.Arg294His) rs1438077547 0.00006
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln) rs368827070 0.00006
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser) rs747674900 0.00006
NM_182961.4(SYNE1):c.245G>A (p.Arg82Gln) rs143900928 0.00006
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys) rs754774098 0.00006
NM_000022.4(ADA):c.757C>T (p.Arg253Trp) rs201944717 0.00005
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866 0.00005
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.5675-13T>A rs373219694 0.00005
NM_000051.4(ATM):c.9031A>G (p.Met3011Val) rs372795527 0.00005
NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys) rs372188754 0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_000071.3(CBS):c.953C>T (p.Thr318Met) rs769541394 0.00005
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala) rs772929903 0.00005
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu) rs766692124 0.00005
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00005
NM_000384.3(APOB):c.8149G>A (p.Ala2717Thr) rs753292024 0.00005
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg) rs139972151 0.00005
NM_000463.3(UGT1A1):c.1349G>A (p.Arg450His) rs200370335 0.00005
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg) rs375325315 0.00005
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val) rs148604667 0.00005
NM_001039141.3(TRIOBP):c.3386C>T (p.Ala1129Val) rs752938356 0.00005
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) rs782739586 0.00005
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266 0.00005
NM_001142864.4(PIEZO1):c.2842C>T (p.Arg948Cys) rs12929515 0.00005
NM_001142864.4(PIEZO1):c.4499G>A (p.Arg1500Gln) rs1461948204 0.00005
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met) rs906425217 0.00005
NM_001142864.4(PIEZO1):c.6479C>T (p.Pro2160Leu) rs753068603 0.00005
NM_001146069.2(MFSD10):c.343G>C (p.Gly115Arg) rs368324724 0.00005
NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr) rs147458476 0.00005
NM_001148.6(ANK2):c.2900+5143G>A rs368551890 0.00005
NM_001159773.2(CANT1):c.119G>A (p.Arg40His) rs375819727 0.00005
NM_001199397.3(NEK1):c.2045C>T (p.Pro682Leu) rs779634939 0.00005
NM_001204.7(BMPR2):c.2186G>C (p.Gly729Ala) rs201816099 0.00005
NM_001235.5(SERPINH1):c.336C>T (p.Gly112=) rs775801195 0.00005
NM_001267550.2(TTN):c.19481T>G (p.Leu6494Arg) rs376857772 0.00005
NM_001267550.2(TTN):c.3148A>G (p.Thr1050Ala) rs940553223 0.00005
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu) rs72650062 0.00005
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598 0.00005
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln) rs376932266 0.00005
NM_001267550.2(TTN):c.57682C>T (p.Arg19228Cys) rs757820671 0.00005
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg) rs758534800 0.00005
NM_001365536.1(SCN9A):c.1115G>A (p.Arg372His) rs201071819 0.00005
NM_001365536.1(SCN9A):c.3125C>T (p.Thr1042Ile) rs757989638 0.00005
NM_001365536.1(SCN9A):c.390G>T (p.Met130Ile) rs376036522 0.00005
NM_001370466.1(NOD2):c.2287C>T (p.Arg763Trp) rs62029861 0.00005
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile) rs139571975 0.00005
NM_001457.4(FLNB):c.2096G>A (p.Arg699Gln) rs752842243 0.00005
NM_001457.4(FLNB):c.2965G>A (p.Val989Met) rs76471260 0.00005
NM_001458.5(FLNC):c.5842+7C>T rs370905549 0.00005
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys) rs372221218 0.00005
NM_001849.4(COL6A2):c.532G>A (p.Glu178Lys) rs369025432 0.00005
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261 0.00005
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His) rs761191746 0.00005
NM_002635.4(SLC25A3):c.761G>A (p.Ser254Asn) rs117836188 0.00005
NM_003126.4(SPTA1):c.1669C>T (p.Arg557Cys) rs143816549 0.00005
NM_003126.4(SPTA1):c.1814C>A (p.Ala605Glu) rs929351807 0.00005
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_004655.4(AXIN2):c.2140C>T (p.Arg714Trp) rs148765149 0.00005
NM_004655.4(AXIN2):c.563A>G (p.Gln188Arg) rs149000772 0.00005
NM_005529.7(HSPG2):c.764C>T (p.Pro255Leu) rs369712921 0.00005
NM_005529.7(HSPG2):c.9836A>G (p.Asn3279Ser) rs368694894 0.00005
NM_005751.5(AKAP9):c.3994G>C (p.Glu1332Gln) rs774110970 0.00005
NM_006231.4(POLE):c.3857G>A (p.Arg1286His) rs771823596 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met) rs377360782 0.00005
NM_006363.6(SEC23B):c.82C>T (p.Arg28Trp) rs759146033 0.00005
NM_007078.3(LDB3):c.992C>T (p.Ala331Val) rs368053281 0.00005
NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr) rs199736893 0.00005
NM_018706.7(DHTKD1):c.1408G>A (p.Gly470Arg) rs35898320 0.00005
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys) rs193245630 0.00005
NM_022114.4(PRDM16):c.1796C>T (p.Ser599Leu) rs367734333 0.00005
NM_147127.5(EVC2):c.446G>A (p.Arg149His) rs202198132 0.00005
NM_181882.3(PRX):c.3239G>A (p.Arg1080His) rs762213719 0.00005
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile) rs752804141 0.00005
NM_000037.4(ANK1):c.1480G>A (p.Ala494Thr) rs190256257 0.00004
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg) rs779898882 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln) rs730881325 0.00004
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896 0.00004
NM_000059.4(BRCA2):c.8755-19A>G rs398122713 0.00004
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His) rs80359143 0.00004
NM_000138.5(FBN1):c.2290G>A (p.Val764Ile) rs769641351 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile) rs363802 0.00004
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile) rs188723332 0.00004
NM_000182.5(HADHA):c.1141G>A (p.Val381Met) rs764067083 0.00004
NM_000188.3(HK1):c.97G>A (p.Asp33Asn) rs375425117 0.00004
NM_000238.4(KCNH2):c.2398+156G>A rs139247073 0.00004
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter) rs768473920 0.00004
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln) rs138498376 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000245.4(MET):c.4016C>T (p.Ala1339Val) rs1453842331 0.00004
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val) rs768393069 0.00004
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His) rs782179888 0.00004
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335 0.00004
NM_000342.4(SLC4A1):c.787C>T (p.Arg263Cys) rs145071135 0.00004
NM_000399.5(EGR2):c.826C>A (p.Pro276Thr) rs774442561 0.00004
NM_000429.3(MAT1A):c.241C>T (p.Arg81Trp) rs750570720 0.00004
NM_000435.3(NOTCH3):c.1724C>T (p.Thr575Met) rs371176740 0.00004
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His) rs779314594 0.00004
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys) rs553752236 0.00004
NM_000463.3(UGT1A1):c.1412C>T (p.Ala471Val) rs1333719360 0.00004
NM_000463.3(UGT1A1):c.643A>G (p.Ile215Val) rs144398951 0.00004
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg) rs200899224 0.00004
NM_000492.4(CFTR):c.26C>T (p.Ala9Val) rs949472192 0.00004
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu) rs397508542 0.00004
NM_000492.4(CFTR):c.355A>G (p.Ile119Val) rs193922518 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000492.4(CFTR):c.454A>T (p.Met152Leu) rs397508721 0.00004
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu) rs775701644 0.00004
NM_000546.6(TP53):c.28G>A (p.Val10Ile) rs535274413 0.00004
NM_000546.6(TP53):c.460G>A (p.Gly154Ser) rs137852789 0.00004
NM_000552.5(VWF):c.1514G>A (p.Arg505His) rs139830291 0.00004
NM_000558.3(HBA1):c.193G>C (p.Asp65His) rs33984024 0.00004
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met) rs376530064 0.00004
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_001024630.4(RUNX2):c.304A>G (p.Met102Val) rs376849024 0.00004
NM_001036.6(RYR3):c.11891C>T (p.Ser3964Leu) rs750201337 0.00004
NM_001039753.4(EML6):c.5773G>A (p.Gly1925Ser) rs933526960 0.00004
NM_001040716.2(PC):c.2489G>A (p.Arg830His) rs773519800 0.00004
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile) rs148540952 0.00004
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val) rs772570411 0.00004
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602 0.00004
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile) rs754683462 0.00004
NM_001142864.4(PIEZO1):c.146G>A (p.Arg49Gln) rs779186692 0.00004
NM_001142864.4(PIEZO1):c.1646C>T (p.Thr549Met) rs775326454 0.00004
NM_001142864.4(PIEZO1):c.3154C>G (p.Gln1052Glu) rs922414644 0.00004
NM_001142864.4(PIEZO1):c.6375G>A (p.Val2125=) rs948359372 0.00004
NM_001204.7(BMPR2):c.2228A>G (p.Tyr743Cys) rs148257675 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856 0.00004
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met) rs727504515 0.00004
NM_001267550.2(TTN):c.31070A>G (p.His10357Arg) rs1343660563 0.00004
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys) rs772195716 0.00004
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg) rs761815745 0.00004
NM_001267550.2(TTN):c.55213C>T (p.Arg18405Cys) rs199656264 0.00004
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp) rs556286196 0.00004
NM_001267550.2(TTN):c.58939G>A (p.Gly19647Arg) rs201430346 0.00004
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala) rs369526268 0.00004
NM_001267550.2(TTN):c.78929C>T (p.Pro26310Leu) rs754702040 0.00004
NM_001267550.2(TTN):c.86873G>A (p.Ser28958Asn) rs199639729 0.00004
NM_001267550.2(TTN):c.89491A>G (p.Lys29831Glu) rs774632104 0.00004
NM_001282225.2(ADA2):c.1442+6T>C rs369050563 0.00004
NM_001282426.2(PIK3CG):c.2455G>A (p.Asp819Asn) rs370034420 0.00004
NM_001355436.2(SPTB):c.1492C>T (p.Arg498Cys) rs144624027 0.00004
NM_001355436.2(SPTB):c.3622C>T (p.Arg1208Trp) rs374240422 0.00004
NM_001355436.2(SPTB):c.5036C>T (p.Ala1679Val) rs774655120 0.00004
NM_001355436.2(SPTB):c.6193T>G (p.Phe2065Val) rs143894722 0.00004
NM_001375808.2(LPIN2):c.1796C>T (p.Pro599Leu) rs372850864 0.00004
NM_001376013.1(EPB41):c.827G>A (p.Arg276His) rs141150801 0.00004
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) rs765998830 0.00004
NM_001377.3(DYNC2H1):c.9585G>C (p.Glu3195Asp) rs758118161 0.00004
NM_001393985.1(ANKRD24):c.3322G>A (p.Val1108Met) rs367894541 0.00004
NM_001458.5(FLNC):c.1802T>C (p.Val601Ala) rs763590899 0.00004
NM_001849.4(COL6A2):c.2278G>A (p.Gly760Arg) rs199913294 0.00004
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser) rs772994944 0.00004
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268 0.00004
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln) rs200726600 0.00004
NM_002047.4(GARS1):c.1715C>T (p.Pro572Leu) rs764238525 0.00004
NM_002230.4(JUP):c.1280C>T (p.Thr427Met) rs781982717 0.00004
NM_002296.4(LBR):c.851C>T (p.Thr284Met) rs371750924 0.00004
NM_002386.4(MC1R):c.865T>C (p.Cys289Arg) rs369542041 0.00004
NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys) rs201683868 0.00004
NM_002474.3(MYH11):c.2724G>T (p.Glu908Asp) rs939496859 0.00004
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) rs571504063 0.00004
NM_002474.3(MYH11):c.769G>A (p.Val257Met) rs112992497 0.00004
NM_002474.3(MYH11):c.935A>G (p.Asn312Ser) rs149964928 0.00004
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) rs587780097 0.00004
NM_002485.5(NBN):c.683T>G (p.Ile228Arg) rs777460725 0.00004
NM_002691.4(POLD1):c.2549G>A (p.Arg850His) rs764432550 0.00004
NM_002838.5(PTPRC):c.2320C>T (p.Arg774Trp) rs200672643 0.00004
NM_003126.4(SPTA1):c.1904C>A (p.Thr635Asn) rs751943864 0.00004
NM_003126.4(SPTA1):c.2029A>G (p.Lys677Glu) rs761960429 0.00004
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe) rs3737521 0.00004
NM_003126.4(SPTA1):c.5303C>T (p.Ala1768Val) rs762636926 0.00004
NM_003126.4(SPTA1):c.803G>A (p.Arg268Gln) rs374770233 0.00004
NM_003364.4(UPP1):c.415A>T (p.Ile139Phe) rs201545473 0.00004
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) rs142019584 0.00004
NM_003680.4(YARS1):c.483G>C (p.Leu161=) rs780528629 0.00004
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) rs371723224 0.00004
NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu) rs750418813 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln) rs144277716 0.00004
NM_005529.7(HSPG2):c.202G>A (p.Asp68Asn) rs746978748 0.00004
NM_005529.7(HSPG2):c.2165A>G (p.His722Arg) rs1279178543 0.00004
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296 0.00004
NM_006231.4(POLE):c.4556G>A (p.Arg1519His) rs376530977 0.00004
NM_006437.4(PARP4):c.3713G>A (p.Arg1238Gln) rs766631344 0.00004
NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala) rs748082803 0.00004
NM_006587.4(CORIN):c.1624T>A (p.Ser542Thr) rs374976508 0.00004
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984 0.00004
NM_007272.3(CTRC):c.286G>A (p.Glu96Lys) rs144286923 0.00004
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457 0.00004
NM_014000.3(VCL):c.1928C>T (p.Thr643Met) rs150643310 0.00004
NM_014727.3(KMT2B):c.118G>A (p.Ala40Thr) rs992191926 0.00004
NM_018706.7(DHTKD1):c.2629C>G (p.Pro877Ala) rs762777348 0.00004
NM_018979.4(WNK1):c.187A>C (p.Lys63Gln) rs780699781 0.00004
NM_019075.4(UGT1A10):c.855+45414T>C rs147013594 0.00004
NM_019594.4(LRRC8A):c.1064C>T (p.Ser355Leu) rs150868273 0.00004
NM_020297.4(ABCC9):c.2599G>A (p.Val867Ile) rs376754153 0.00004
NM_020779.4(WDR35):c.836A>G (p.Gln279Arg) rs375814330 0.00004
NM_021008.4(DEAF1):c.316G>A (p.Val106Met) rs143376874 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024577.4(SH3TC2):c.181C>T (p.Arg61Cys) rs773087313 0.00004
NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val) rs142891020 0.00004
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731 0.00004
NM_032211.7(LOXL4):c.407G>A (p.Arg136His) rs377758453 0.00004
NM_032409.3(PINK1):c.865C>A (p.Pro289Thr) rs777088052 0.00004
NM_053025.4(MYLK):c.226G>A (p.Gly76Arg) rs368413008 0.00004
NM_058216.3(RAD51C):c.721G>A (p.Val241Met) rs184033132 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_144573.4(NEXN):c.836G>A (p.Arg279His) rs750349053 0.00004
NM_144997.7(FLCN):c.43G>A (p.Gly15Ser) rs539468848 0.00004
NM_153676.4(USH1C):c.464G>C (p.Arg155Pro) rs142730611 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_176795.5(HRAS):c.481G>A (p.Gly161Arg) rs750721065 0.00004
NM_177438.3(DICER1):c.1468C>T (p.Arg490Cys) rs777894117 0.00004
NM_181882.3(PRX):c.1391G>A (p.Arg464Gln) rs553211374 0.00004
NM_182961.4(SYNE1):c.16229G>A (p.Arg5410Gln) rs776100963 0.00004
NM_182961.4(SYNE1):c.3493C>T (p.Arg1165Cys) rs777507702 0.00004
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747 0.00004
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala) rs372684079 0.00003
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile) rs761147984 0.00003
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile) rs80358448 0.00003
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606 0.00003
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr) rs138489917 0.00003
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg) rs55647716 0.00003
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn) rs80359177 0.00003
NM_000071.3(CBS):c.1106G>A (p.Arg369His) rs11700812 0.00003
NM_000089.4(COL1A2):c.1246G>A (p.Val416Ile) rs550867796 0.00003
NM_000093.5(COL5A1):c.212C>T (p.Pro71Leu) rs779540528 0.00003
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu) rs140244245 0.00003
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663 0.00003
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu) rs570691491 0.00003
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu) rs146044644 0.00003
NM_000141.5(FGFR2):c.344G>A (p.Ser115Asn) rs867109770 0.00003
NM_000142.5(FGFR3):c.1283A>G (p.Asn428Ser) rs138986264 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000188.3(HK1):c.1549C>T (p.Arg517Trp) rs568551856 0.00003
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly) rs745839954 0.00003
NM_000249.4(MLH1):c.91G>T (p.Ala31Ser) rs749671520 0.00003
NM_000257.4(MYH7):c.1625A>G (p.Lys542Arg) rs863224645 0.00003
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302 0.00003
NM_000298.6(PKLR):c.1619-3C>A rs777609966 0.00003
NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile) rs199473197 0.00003
NM_000335.5(SCN5A):c.4532G>A (p.Arg1511Gln) rs368219299 0.00003
NM_000341.4(SLC3A1):c.1510C>T (p.Arg504Cys) rs201143887 0.00003
NM_000352.6(ABCC8):c.2977G>A (p.Ala993Thr) rs148342166 0.00003
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln) rs587782364 0.00003
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) rs55750087 0.00003
NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr) rs397978903 0.00003
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser) rs397508185 0.00003
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys) rs773018372 0.00003
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser) rs138069616 0.00003
NM_000492.4(CFTR):c.264A>C (p.Leu88Phe) rs149662778 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His) rs193922516 0.00003
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val) rs397508670 0.00003
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345 0.00003
NM_000535.7(PMS2):c.1616C>T (p.Ala539Val) rs138222146 0.00003
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_000546.6(TP53):c.329G>A (p.Arg110His) rs11540654 0.00003
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp) rs766451267 0.00003
NM_000552.5(VWF):c.2025G>A (p.Pro675=) rs779045480 0.00003
NM_000552.5(VWF):c.3097_3099dup (p.Asp1033dup) rs752219725 0.00003
NM_000795.4(DRD2):c.947A>C (p.His316Pro) rs1182082677 0.00003
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr) rs375646186 0.00003
NM_000942.5(PPIB):c.445G>A (p.Gly149Ser) rs768639196 0.00003
NM_001005242.3(PKP2):c.1796A>G (p.Lys599Arg) rs533659697 0.00003
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) rs1211697062 0.00003
NM_001013627.3(NHSL2):c.3065T>C (p.Met1022Thr) rs1005411920 0.00003
NM_001032386.2(SUOX):c.739C>A (p.Leu247Met) rs765859233 0.00003
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr) rs189345192 0.00003
NM_001039213.4(CEACAM16):c.828C>A (p.Asp276Glu) rs554754239 0.00003
NM_001040272.6(ADAMTSL1):c.4046G>C (p.Gly1349Ala) rs780406019 0.00003
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser) rs753189381 0.00003
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr) rs587782773 0.00003
NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln) rs201994938 0.00003
NM_001072.4(UGT1A6):c.214T>C (p.Tyr72His) rs757592840 0.00003
NM_001072.4(UGT1A6):c.348G>C (p.Met116Ile) rs757976622 0.00003
NM_001099409.3(EHBP1L1):c.3395C>T (p.Thr1132Met) rs1416059116 0.00003
NM_001105206.3(LAMA4):c.964A>C (p.Lys322Gln) rs1375382054 0.00003
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130 0.00003
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579 0.00003
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala) rs782469665 0.00003
NM_001110556.2(FLNA):c.5219C>T (p.Ala1740Val) rs782714867 0.00003
NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met) rs782639698 0.00003
NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn) rs782477734 0.00003
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu) rs371724771 0.00003
NM_001114134.2(EPB42):c.1919G>A (p.Arg640His) rs1287191197 0.00003
NM_001127511.3(APC):c.1A>G (p.Met1Val) rs189807660 0.00003
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys) rs565524160 0.00003
NM_001142864.4(PIEZO1):c.1442G>A (p.Arg481His) rs947487272 0.00003
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) rs769506340 0.00003
NM_001142864.4(PIEZO1):c.5390G>A (p.Arg1797His) rs759786040 0.00003
NM_001142864.4(PIEZO1):c.6754-15G>A rs761514562 0.00003
NM_001145809.2(MYH14):c.1418G>A (p.Arg473His) rs199812021 0.00003
NM_001145809.2(MYH14):c.5963G>A (p.Arg1988His) rs376315069 0.00003
NM_001159699.2(FHL1):c.816C>T (p.Ser272=) rs758552293 0.00003
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly) rs35763578 0.00003
NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala) rs138784081 0.00003
NM_001243133.2(NLRP3):c.269C>T (p.Pro90Leu) rs145774400 0.00003
NM_001267550.2(TTN):c.21119G>A (p.Arg7040Gln) rs754476903 0.00003
NM_001267550.2(TTN):c.28643C>T (p.Thr9548Met) rs752064053 0.00003
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys) rs770684884 0.00003
NM_001355436.2(SPTB):c.4147C>A (p.Leu1383Met) rs367610564 0.00003
NM_001355436.2(SPTB):c.5287A>G (p.Ser1763Gly) rs200617821 0.00003
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu) rs201354321 0.00003
NM_001365536.1(SCN9A):c.1660C>A (p.Leu554Ile) rs201994523 0.00003
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val) rs104895486 0.00003
NM_001370466.1(NOD2):c.313C>T (p.Arg105Ter) rs757487598 0.00003
NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter) rs781333877 0.00003
NM_001371279.1(REEP1):c.806C>T (p.Ser269Phe) rs200537429 0.00003
NM_001374353.1(GLI2):c.1121G>A (p.Arg374His) rs370220133 0.00003
NM_001376.5(DYNC1H1):c.8097A>G (p.Thr2699=) rs772002773 0.00003
NM_001395413.1(POR):c.162C>G (p.Phe54Leu) rs927062544 0.00003
NM_001395413.1(POR):c.1789C>T (p.Arg597Trp) rs72557950 0.00003
NM_001457.4(FLNB):c.2005A>G (p.Thr669Ala) rs147481678 0.00003
NM_001458.5(FLNC):c.4970G>A (p.Arg1657Gln) rs374294752 0.00003
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn) rs777832794 0.00003
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln) rs768280699 0.00003
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn) rs370650204 0.00003
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln) rs370804151 0.00003
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn) rs779483120 0.00003
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn) rs369070016 0.00003
NM_002109.6(HARS1):c.797G>A (p.Arg266His) rs765223763 0.00003
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met) rs1225363387 0.00003
NM_002296.4(LBR):c.227G>A (p.Arg76Gln) rs749991297 0.00003
NM_002296.4(LBR):c.262G>A (p.Gly88Ser) rs754965227 0.00003
NM_002471.4(MYH6):c.1960C>T (p.Arg654Trp) rs369938365 0.00003
NM_002691.4(POLD1):c.2954G>C (p.Arg985Pro) rs749159160 0.00003
NM_002691.4(POLD1):c.3016G>A (p.Ala1006Thr) rs376197467 0.00003
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437 0.00003
NM_002907.4(RECQL):c.1426G>A (p.Asp476Asn) rs200259739 0.00003
NM_003072.5(SMARCA4):c.3952-13C>A rs374611879 0.00003
NM_003126.4(SPTA1):c.1309G>A (p.Val437Met) rs147677656 0.00003
NM_003126.4(SPTA1):c.2542C>T (p.Arg848Cys) rs781647129 0.00003
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn) rs201463616 0.00003
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp) rs757774610 0.00003
NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val) rs757051948 0.00003
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His) rs780542125 0.00003
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092 0.00003
NM_004006.3(DMD):c.2780C>T (p.Ala927Val) rs41312094 0.00003
NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr) rs772732788 0.00003
NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln) rs759306485 0.00003
NM_004239.4(TRIP11):c.3871G>A (p.Val1291Ile) rs142078341 0.00003
NM_004239.4(TRIP11):c.460C>T (p.Pro154Ser) rs201247031 0.00003
NM_004260.4(RECQL4):c.1100G>A (p.Arg367Gln) rs766344677 0.00003
NM_004415.4(DSP):c.484C>T (p.Arg162Cys) rs760711308 0.00003
NM_004817.4(TJP2):c.2880+8G>A rs756700057 0.00003
NM_004990.4(MARS1):c.228G>T (p.Glu76Asp) rs369313141 0.00003
NM_005138.3(SCO2):c.193G>A (p.Gly65Ser) rs1268301469 0.00003
NM_005142.3(CBLIF):c.497C>T (p.Ser166Phe) rs766117701 0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005359.6(SMAD4):c.332A>C (p.His111Pro) rs1064794363 0.00003
NM_005458.8(GABBR2):c.664G>A (p.Glu222Lys) rs750467268 0.00003
NM_005529.7(HSPG2):c.1834G>A (p.Gly612Ser) rs768946900 0.00003
NM_006070.6(TFG):c.1154G>A (p.Arg385His) rs373719892 0.00003
NM_006231.4(POLE):c.1138G>T (p.Gly380Cys) rs199746481 0.00003
NM_006231.4(POLE):c.274A>C (p.Ser92Arg) rs758382516 0.00003
NM_006254.4(PRKCD):c.949G>A (p.Glu317Lys) rs55929201 0.00003
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr) rs201538234 0.00003
NM_006363.6(SEC23B):c.103G>A (p.Val35Ile) rs147576961 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919 0.00003
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg) rs80357079 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_014000.3(VCL):c.1841C>T (p.Thr614Met) rs748140302 0.00003
NM_015335.5(MED13L):c.4261A>G (p.Ile1421Val) rs747089502 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_017636.4(TRPM4):c.3023C>T (p.Ala1008Val) rs756361248 0.00003
NM_018319.4(TDP1):c.731C>G (p.Pro244Arg) rs779863680 0.00003
NM_018979.4(WNK1):c.130G>A (p.Ala44Thr) rs764240024 0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_022124.6(CDH23):c.325G>A (p.Asp109Asn) rs199793172 0.00003
NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val) rs186942719 0.00003
NM_024009.3(GJB3):c.589G>A (p.Val197Ile) rs376506263 0.00003
NM_024334.3(TMEM43):c.644A>C (p.His215Pro) rs730880225 0.00003
NM_024422.6(DSC2):c.395G>A (p.Arg132His) rs375410133 0.00003
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln) rs200634448 0.00003
NM_025132.4(WDR19):c.288G>A (p.Met96Ile) rs374891297 0.00003
NM_032119.4(ADGRV1):c.1094A>G (p.Asp365Gly) rs779719772 0.00003
NM_053025.4(MYLK):c.2096A>G (p.Asn699Ser) rs757524646 0.00003
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu) rs562253142 0.00003
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631 0.00003
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala) rs142952894 0.00003
NM_152743.4(BRAT1):c.139G>A (p.Val47Met) rs769700664 0.00003
NM_182961.4(SYNE1):c.1943G>A (p.Arg648Gln) rs768605521 0.00003
NC_000011.10:g.5227261C>T rs753344875 0.00002
NM_000018.4(ACADVL):c.485G>A (p.Arg162His) rs754756970 0.00002
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463 0.00002
NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu) rs587782737 0.00002
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro) rs80358577 0.00002
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822 0.00002
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu) rs80359036 0.00002
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144 0.00002
NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys) rs763456705 0.00002
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865 0.00002
NM_000112.4(SLC26A2):c.712T>G (p.Phe238Val) rs746734591 0.00002
NM_000112.4(SLC26A2):c.740A>G (p.Tyr247Cys) rs768745973 0.00002
NM_000132.4(F8):c.5999-11G>A rs782132907 0.00002
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) rs121913112 0.00002
NM_000178.4(GSS):c.842A>G (p.Glu281Gly) rs372680407 0.00002
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn) rs730881798 0.00002
NM_000179.3(MSH6):c.2950A>C (p.Asn984His) rs146359682 0.00002
NM_000188.3(HK1):c.949G>A (p.Gly317Ser) rs202028638 0.00002
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320 0.00002
NM_000219.6(KCNE1):c.314C>T (p.Ser105Leu) rs780041404 0.00002
NM_000238.4(KCNH2):c.2887C>A (p.Pro963Thr) rs199473014 0.00002
NM_000238.4(KCNH2):c.3052C>G (p.Pro1018Ala) rs41313764 0.00002
NM_000243.3(MEFV):c.1234A>G (p.Ile412Val) rs1434076108 0.00002
NM_000243.3(MEFV):c.1782G>A (p.Gln594=) rs144122901 0.00002
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg) rs201766654 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.2786G>A (p.Arg929Gln) rs587779967 0.00002
NM_000298.6(PKLR):c.341T>C (p.Ile114Thr) rs779517988 0.00002
NM_000298.6(PKLR):c.86T>C (p.Ile29Thr) rs142735355 0.00002
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu) rs1085307517 0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000337.6(SGCD):c.298A>C (p.Asn100His) rs1436273126 0.00002
NM_000341.4(SLC3A1):c.50G>C (p.Gly17Ala) rs769462475 0.00002
NM_000355.4(TCN2):c.10C>T (p.Leu4Phe) rs572942248 0.00002
NM_000384.3(APOB):c.7727G>A (p.Arg2576His) rs759057929 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.178C>T (p.Arg60Trp) rs202167435 0.00002
NM_000455.5(STK11):c.464+5G>A rs587781681 0.00002
NM_000492.4(CFTR):c.2882T>C (p.Met961Thr) rs769377991 0.00002
NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu) rs752834717 0.00002
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr) rs115762793 0.00002
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys) rs367850319 0.00002
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442 0.00002
NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala) rs777006583 0.00002
NM_000548.5(TSC2):c.5347G>A (p.Glu1783Lys) rs777166275 0.00002
NM_000552.5(VWF):c.4123C>T (p.Pro1375Ser) rs751767496 0.00002
NM_000642.3(AGL):c.4186A>G (p.Lys1396Glu) rs539403694 0.00002
NM_000744.7(CHRNA4):c.971C>T (p.Thr324Met) rs531615515 0.00002
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn) rs140053197 0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373 0.00002
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile) rs966307189 0.00002
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg) rs765351308 0.00002
NM_001040108.2(MLH3):c.962T>C (p.Met321Thr) rs1004768761 0.00002
NM_001110556.2(FLNA):c.1462C>T (p.Arg488Trp) rs782434042 0.00002
NM_001110556.2(FLNA):c.3515G>A (p.Arg1172Gln) rs782694926 0.00002
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln) rs1483960506 0.00002
NM_001126121.2(SLC25A19):c.125G>A (p.Arg42His) rs763480652 0.00002
NM_001142864.4(PIEZO1):c.4007T>C (p.Ile1336Thr) rs141785047 0.00002
NM_001142864.4(PIEZO1):c.4009G>A (p.Asp1337Asn) rs904289669 0.00002
NM_001148.6(ANK2):c.10882G>T (p.Ala3628Ser) rs765610365 0.00002
NM_001148.6(ANK2):c.11182G>A (p.Val3728Ile) rs773907372 0.00002
NM_001148.6(ANK2):c.2900+5165A>G rs759647520 0.00002
NM_001148.6(ANK2):c.3373G>C (p.Asp1125His) rs1043468981 0.00002
NM_001164508.2(NEB):c.8860G>T (p.Ala2954Ser) rs764538619 0.00002
NM_001243133.2(NLRP3):c.2336G>A (p.Gly779Asp) rs768252357 0.00002
NM_001244008.2(KIF1A):c.2934C>T (p.Gly978=) rs751977290 0.00002
NM_001267550.2(TTN):c.26599G>A (p.Gly8867Arg) rs762113080 0.00002
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly) rs536974988 0.00002
NM_001267550.2(TTN):c.51500C>T (p.Thr17167Ile) rs749322226 0.00002
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser) rs749312983 0.00002
NM_001267550.2(TTN):c.62651G>T (p.Cys20884Phe) rs773806020 0.00002
NM_001267550.2(TTN):c.76592T>C (p.Phe25531Ser) rs976954474 0.00002
NM_001267550.2(TTN):c.99605T>C (p.Leu33202Pro) rs370632563 0.00002
NM_001284401.2(TAMM41):c.896C>T (p.Pro299Leu) rs969996683 0.00002
NM_001303256.3(MORC2):c.848G>A (p.Arg283His) rs1482880426 0.00002
NM_001355436.2(SPTB):c.5267G>T (p.Arg1756Leu) rs776376302 0.00002
NM_001355436.2(SPTB):c.5737C>T (p.Arg1913Cys) rs752611530 0.00002
NM_001355436.2(SPTB):c.6061G>C (p.Ala2021Pro) rs929734499 0.00002
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_001360016.2(G6PD):c.754G>A (p.Glu252Lys) rs782216807 0.00002
NM_001365536.1(SCN9A):c.1650C>G (p.Ser550Arg) rs200192044 0.00002
NM_001365951.3(KIF1B):c.2605G>A (p.Glu869Lys) rs370243199 0.00002
NM_001370466.1(NOD2):c.1923del (p.His642fs) rs758485603 0.00002
NM_001378414.1(HDAC4):c.2821G>A (p.Val941Met) rs757439665 0.00002
NM_001457.4(FLNB):c.1628T>C (p.Val543Ala) rs773177128 0.00002
NM_001458.5(FLNC):c.4300C>T (p.Arg1434Cys) rs536331212 0.00002
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys) rs750686083 0.00002
NM_001844.5(COL2A1):c.157C>G (p.Arg53Gly) rs776744207 0.00002
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met) rs200137091 0.00002
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421 0.00002
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val) rs754884110 0.00002
NM_001999.4(FBN2):c.5815G>A (p.Glu1939Lys) rs779671043 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln) rs755437836 0.00002
NM_002047.4(GARS1):c.112G>A (p.Ala38Thr) rs759499740 0.00002
NM_002230.4(JUP):c.1784C>T (p.Ser595Leu) rs782130740 0.00002
NM_002471.4(MYH6):c.934G>A (p.Ala312Thr) rs748143404 0.00002
NM_002495.4(NDUFS4):c.487A>G (p.Asn163Asp) rs371127738 0.00002
NM_002661.5(PLCG2):c.652C>A (p.Leu218Ile) rs551539187 0.00002
NM_002691.4(POLD1):c.2624G>A (p.Arg875His) rs754832710 0.00002
NM_002972.4(SBF1):c.2899A>G (p.Ile967Val) rs376364128 0.00002
NM_003000.3(SDHB):c.529C>T (p.Arg177Cys) rs149091125 0.00002
NM_003051.4(SLC16A1):c.1285G>A (p.Val429Ile) rs151166713 0.00002
NM_003072.5(SMARCA4):c.4310G>A (p.Ser1437Asn) rs1402031100 0.00002
NM_003072.5(SMARCA4):c.4311C>A (p.Ser1437Arg) rs1392263235 0.00002
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser) rs929328527 0.00002
NM_003126.4(SPTA1):c.209T>G (p.Met70Arg) rs1469938477 0.00002
NM_003126.4(SPTA1):c.2894G>T (p.Cys965Phe) rs765999382 0.00002
NM_003126.4(SPTA1):c.3019C>T (p.Leu1007Phe) rs201324641 0.00002
NM_003239.5(TGFB3):c.604T>G (p.Phe202Val) rs1474433492 0.00002
NM_004006.3(DMD):c.1536C>A (p.His512Gln) rs776446238 0.00002
NM_004082.5(DCTN1):c.1486G>C (p.Val496Leu) rs773897036 0.00002
NM_004082.5(DCTN1):c.2383C>T (p.Arg795Cys) rs771231109 0.00002
NM_004082.5(DCTN1):c.3145C>T (p.Arg1049Trp) rs573012389 0.00002
NM_004104.5(FASN):c.3302C>T (p.Ser1101Leu) rs143739434 0.00002
NM_004281.4(BAG3):c.494C>T (p.Ser165Phe) rs143756613 0.00002
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu) rs748733750 0.00002
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) rs766157497 0.00002
NM_005529.7(HSPG2):c.3010T>A (p.Ser1004Thr) rs775214455 0.00002
NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val) rs56248239 0.00002
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys) rs376950905 0.00002
NM_006070.6(TFG):c.1048G>A (p.Ala350Thr) rs543542721 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_006506.5(RASA2):c.350G>A (p.Arg117His) rs752928043 0.00002
NM_007078.3(LDB3):c.1382A>C (p.Tyr461Ser) rs774224466 0.00002
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg) rs370521488 0.00002
NM_007272.3(CTRC):c.607G>A (p.Ala203Thr) rs750408563 0.00002
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly) rs730881442 0.00002
NM_007294.4(BRCA1):c.733G>T (p.Asp245Tyr) rs147519994 0.00002
NM_012062.5(DNM1L):c.2135A>C (p.Glu712Ala) rs759154998 0.00002
NM_014000.3(VCL):c.2905G>A (p.Ala969Thr) rs199751261 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) rs745394467 0.00002
NM_015275.3(WASHC4):c.1673T>C (p.Ile558Thr) rs755148123 0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541 0.00002
NM_017849.4(TMEM127):c.253A>G (p.Met85Val) rs771261665 0.00002
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln) rs769900670 0.00002
NM_018706.7(DHTKD1):c.64C>A (p.Arg22Ser) rs764415717 0.00002
NM_020435.4(GJC2):c.550G>A (p.Ala184Thr) rs758277909 0.00002
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu) rs760625882 0.00002
NM_021098.3(CACNA1H):c.3952A>G (p.Ile1318Val) rs775456399 0.00002
NM_021625.5(TRPV4):c.1198C>T (p.Arg400Trp) rs781711282 0.00002
NM_021625.5(TRPV4):c.2269C>T (p.Arg757Cys) rs757814511 0.00002
NM_022089.4(ATP13A2):c.1880G>A (p.Arg627His) rs756516383 0.00002
NM_022124.6(CDH23):c.10022G>A (p.Arg3341His) rs765298747 0.00002
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln) rs756754311 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_024753.5(TTC21B):c.3623T>G (p.Ile1208Ser) rs189519760 0.00002
NM_024753.5(TTC21B):c.557A>G (p.Gln186Arg) rs938051900 0.00002
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val) rs1427374639 0.00002
NM_032638.5(GATA2):c.142T>A (p.Phe48Ile) rs878855170 0.00002
NM_033056.4(PCDH15):c.5543G>T (p.Cys1848Phe) rs752231055 0.00002
NM_053025.4(MYLK):c.3615G>T (p.Arg1205Ser) rs1026157995 0.00002
NM_053025.4(MYLK):c.4154G>A (p.Arg1385His) rs762795374 0.00002
NM_053025.4(MYLK):c.643A>G (p.Met215Val) rs754479443 0.00002
NM_144672.4(OTOA):c.1399C>T (p.Arg467Cys) rs757720270 0.00002
NM_144997.7(FLCN):c.1174C>T (p.Arg392Trp) rs1060502374 0.00002
NM_147127.5(EVC2):c.2180G>A (p.Arg727His) rs140363692 0.00002
NM_152232.6(TAS1R2):c.2174G>A (p.Arg725His) rs768315702 0.00002
NM_175914.5(HNF4A):c.841A>G (p.Ser281Gly) rs201777208 0.00002
NM_181882.3(PRX):c.3646G>A (p.Val1216Met) rs774413102 0.00002
NM_182961.4(SYNE1):c.6431A>G (p.Asn2144Ser) rs28447480 0.00002
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile) rs373152283 0.00002
NM_000016.6(ACADM):c.1019C>T (p.Ala340Val) rs886042054 0.00001
NM_000018.4(ACADVL):c.1006A>G (p.Ile336Val) rs146369181 0.00001
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp) rs1458941582 0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090 0.00001
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu) rs748123979 0.00001
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg) rs1324917279 0.00001
NM_000020.3(ACVRL1):c.238C>T (p.Arg80Cys) rs756447582 0.00001
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys) rs782334088 0.00001
NM_000038.6(APC):c.3220A>G (p.Thr1074Ala) rs962456431 0.00001
NM_000038.6(APC):c.6700C>T (p.Pro2234Ser) rs749507584 0.00001
NM_000051.4(ATM):c.1726A>G (p.Ile576Val) rs1064795170 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser) rs730881358 0.00001
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys) rs779718362 0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val) rs754275014 0.00001
NM_000051.4(ATM):c.78A>T (p.Glu26Asp) rs786202953 0.00001
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala) rs587782149 0.00001
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313 0.00001
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630 0.00001
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val) rs398122724 0.00001
NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val) rs80358420 0.00001
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys) rs587782535 0.00001
NM_000059.4(BRCA2):c.1888A>G (p.Thr630Ala) rs1335307553 0.00001
NM_000059.4(BRCA2):c.3005A>C (p.Asn1002Thr) rs730881518 0.00001
NM_000059.4(BRCA2):c.3302A>G (p.His1101Arg) rs398122761 0.00001
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val) rs41293479 0.00001
NM_000059.4(BRCA2):c.4211C>T (p.Ser1404Leu) rs41293489 0.00001
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684 0.00001
NM_000059.4(BRCA2):c.5406A>C (p.Gln1802His) rs139302211 0.00001
NM_000059.4(BRCA2):c.6713A>G (p.Asp2238Gly) rs80358895 0.00001
NM_000059.4(BRCA2):c.6875A>G (p.Glu2292Gly) rs397507378 0.00001
NM_000059.4(BRCA2):c.7001C>T (p.Pro2334Leu) rs748816192 0.00001
NM_000059.4(BRCA2):c.714_716dup (p.Glu238_Ser239insArg) rs80359640 0.00001
NM_000059.4(BRCA2):c.7168A>G (p.Asn2390Asp) rs876660772 0.00001
NM_000059.4(BRCA2):c.788G>C (p.Ser263Thr) rs1555281480 0.00001
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr) rs80359077 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala) rs151174152 0.00001
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala) rs587782568 0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn) rs758447354 0.00001
NM_000077.5(CDKN2A):c.425A>G (p.His142Arg) rs759922342 0.00001
NM_000088.4(COL1A1):c.1207C>G (p.Pro403Ala) rs762809403 0.00001
NM_000088.4(COL1A1):c.2819A>T (p.Asp940Val) rs1339193404 0.00001
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr) rs374095521 0.00001
NM_000093.5(COL5A1):c.2543G>A (p.Arg848His) rs767925708 0.00001
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636 0.00001
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val) rs188120737 0.00001
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr) rs776748227 0.00001
NM_000093.5(COL5A1):c.5326T>C (p.Tyr1776His) rs778249693 0.00001
NM_000098.3(CPT2):c.1049G>A (p.Arg350His) rs773966429 0.00001
NM_000112.4(SLC26A2):c.439G>T (p.Ala147Ser) rs201012489 0.00001
NM_000124.4(ERCC6):c.4126G>C (p.Asp1376His) rs1255657939 0.00001
NM_000132.4(F8):c.6991A>T (p.Ser2331Cys) rs1557271047 0.00001
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu) rs771134832 0.00001
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln) rs1441536824 0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837 0.00001
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile) rs368287795 0.00001
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser) rs760055383 0.00001
NM_000138.5(FBN1):c.6835G>A (p.Gly2279Arg) rs759674700 0.00001
NM_000138.5(FBN1):c.7617C>T (p.Gly2539=) rs1388794275 0.00001
NM_000141.5(FGFR2):c.2245A>G (p.Thr749Ala) rs754928713 0.00001
NM_000142.5(FGFR3):c.343C>G (p.Gln115Glu) rs746468796 0.00001
NM_000143.4(FH):c.1471T>C (p.Tyr491His) rs749713004 0.00001
NM_000178.4(GSS):c.130G>T (p.Val44Leu) rs1348966186 0.00001
NM_000178.4(GSS):c.916A>G (p.Lys306Glu) rs1440600097 0.00001
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val) rs730881788 0.00001
NM_000179.3(MSH6):c.2629G>A (p.Glu877Lys) rs730881797 0.00001
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala) rs376452612 0.00001
NM_000179.3(MSH6):c.958C>A (p.Pro320Thr) rs754879198 0.00001
NM_000184.3(HBG2):c.398A>C (p.Lys133Thr) rs1361182977 0.00001
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000218.3(KCNQ1):c.698T>C (p.Leu233Pro) rs780236727 0.00001
NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438 0.00001
NM_000238.4(KCNH2):c.2996G>A (p.Ser999Asn) rs974699160 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile) rs104895143 0.00001
NM_000245.4(MET):c.1336A>G (p.Ile446Val) rs779022887 0.00001
NM_000249.4(MLH1):c.1277A>T (p.Gln426Leu) rs876659252 0.00001
NM_000249.4(MLH1):c.650G>A (p.Arg217His) rs762099920 0.00001
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser) rs747504492 0.00001
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys) rs587779971 0.00001
NM_000251.3(MSH2):c.440T>G (p.Val147Gly) rs760851623 0.00001
NM_000251.3(MSH2):c.962C>G (p.Thr321Ser) rs1233448699 0.00001
NM_000254.3(MTR):c.2915A>G (p.Tyr972Cys) rs773190246 0.00001
NM_000255.4(MMUT):c.1357G>A (p.Gly453Ser) rs1022821298 0.00001
NM_000256.3(MYBPC3):c.2849C>A (p.Ala950Glu) rs730880577 0.00001
NM_000256.3(MYBPC3):c.3223A>G (p.Thr1075Ala) rs767927162 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000260.4(MYO7A):c.1195G>A (p.Val399Ile) rs1162724549 0.00001
NM_000287.4(PEX6):c.2359G>A (p.Glu787Lys) rs202019439 0.00001
NM_000298.6(PKLR):c.292T>A (p.Ser98Thr) rs1302535902 0.00001
NM_000298.6(PKLR):c.638T>C (p.Val213Ala) rs200979497 0.00001
NM_000311.5(PRNP):c.143G>A (p.Arg48His) rs945136467 0.00001
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val) rs727503407 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.916C>G (p.Leu306Val) rs748956841 0.00001
NM_000342.4(SLC4A1):c.2055C>T (p.Thr685=) rs375136281 0.00001
NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala) rs766885976 0.00001
NM_000342.4(SLC4A1):c.490G>A (p.Ala164Thr) rs543366685 0.00001
NM_000350.3(ABCA4):c.4945C>T (p.Pro1649Ser) rs886046563 0.00001
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568 0.00001
NM_000352.6(ABCC8):c.3455C>T (p.Ala1152Val) rs1354859002 0.00001
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623 0.00001
NM_000371.4(TTR):c.263T>C (p.Ile88Thr) rs1567946180 0.00001
NM_000384.3(APOB):c.9770A>G (p.Asn3257Ser) rs146178619 0.00001
NM_000393.5(COL5A2):c.1264A>G (p.Ile422Val) rs1391129049 0.00001
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379 0.00001
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105 0.00001
NM_000398.7(CYB5R3):c.21+4910G>C rs1356643970 0.00001
NM_000398.7(CYB5R3):c.884C>T (p.Thr295Met) rs768095972 0.00001
NM_000414.4(HSD17B4):c.1992G>C (p.Trp664Cys) rs752858179 0.00001
NM_000431.4(MVK):c.151C>T (p.Leu51Phe) rs892779197 0.00001
NM_000431.4(MVK):c.512G>A (p.Gly171Glu) rs753599820 0.00001
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr) rs754815179 0.00001
NM_000435.3(NOTCH3):c.3919A>G (p.Thr1307Ala) rs1331244525 0.00001
NM_000448.3(RAG1):c.1467G>C (p.Arg489Ser) rs1270133689 0.00001
NM_000455.5(STK11):c.1167C>G (p.Ala389=) rs547919101 0.00001
NM_000459.5(TEK):c.1237C>T (p.Arg413Trp) rs534867466 0.00001
NM_000463.3(UGT1A1):c.1075G>A (p.Asp359Asn) rs267599273 0.00001
NM_000463.3(UGT1A1):c.1445C>T (p.Thr482Ile) rs1279219087 0.00001
NM_000478.6(ALPL):c.1349G>A (p.Arg450His) rs150799088 0.00001
NM_000492.4(CFTR):c.1504A>G (p.Ile502Val) rs768243039 0.00001
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu) rs387906368 0.00001
NM_000492.4(CFTR):c.1912C>T (p.Pro638Ser) rs1368033715 0.00001
NM_000492.4(CFTR):c.1983C>G (p.Ile661Met) rs1485998437 0.00001
NM_000492.4(CFTR):c.2327C>T (p.Ser776Leu) rs397508365 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser) rs778688276 0.00001
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser) rs1310658028 0.00001
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys) rs397508418 0.00001
NM_000492.4(CFTR):c.273+4A>G rs387906374 0.00001
NM_000492.4(CFTR):c.290T>C (p.Val97Ala) rs1235363099 0.00001
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg) rs397508494 0.00001
NM_000492.4(CFTR):c.3139+8A>G rs193922517 0.00001
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile) rs140883683 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys) rs150020260 0.00001
NM_000492.4(CFTR):c.335A>G (p.Asp112Gly) rs770241677 0.00001
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu) rs1434504483 0.00001
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val) rs75647395 0.00001
NM_000492.4(CFTR):c.3682G>C (p.Glu1228Gln) rs759116351 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.4265G>A (p.Arg1422Gln) rs780785939 0.00001
NM_000492.4(CFTR):c.529A>T (p.Ile177Phe) rs1267579802 0.00001
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser) rs760319837 0.00001
NM_000492.4(CFTR):c.94C>A (p.Leu32Met) rs776797377 0.00001
NM_000517.6(HBA2):c.146T>G (p.Leu49Arg) rs41392146 0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.5(HBB):c.*104G>A rs1564873881 0.00001
NM_000518.5(HBB):c.*74A>G rs369101035 0.00001
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) rs33918778 0.00001
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496 0.00001
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val) rs774562271 0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 0.00001
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) rs775361544 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000531.6(OTC):c.520G>A (p.Ala174Thr) rs72556281 0.00001
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu) rs587782665 0.00001
NM_000536.4(RAG2):c.1526G>T (p.Gly509Val) rs779267024 0.00001
NM_000552.5(VWF):c.3320A>G (p.Tyr1107Cys) rs267607319 0.00001
NM_000552.5(VWF):c.4079T>C (p.Val1360Ala) rs267607338 0.00001
NM_000552.5(VWF):c.4205A>G (p.Gln1402Arg) rs1182668622 0.00001
NM_000558.5(HBA1):c.337C>G (p.His113Asp) rs34830032 0.00001
NM_000717.5(CA4):c.90G>C (p.Glu30Asp) rs376842199 0.00001
NM_000719.7(CACNA1C):c.609G>A (p.Val203=) rs1417477759 0.00001
NM_001009944.3(PKD1):c.10027C>T (p.Leu3343Phe) rs1158465434 0.00001
NM_001034853.2(RPGR):c.-16C>T rs748771594 0.00001
NM_001035.3(RYR2):c.11428C>T (p.Arg3810Ter) rs1446308525 0.00001
NM_001035.3(RYR2):c.1397C>A (p.Pro466Gln) rs967199869 0.00001
NM_001035.3(RYR2):c.2131G>A (p.Glu711Lys) rs1470689668 0.00001
NM_001035.3(RYR2):c.2364C>A (p.Phe788Leu) rs776018906 0.00001
NM_001035.3(RYR2):c.3154G>A (p.Glu1052Lys) rs1271333166 0.00001
NM_001035.3(RYR2):c.6519G>T (p.Glu2173Asp) rs368920731 0.00001
NM_001039803.3(CDK20):c.610T>C (p.Phe204Leu) rs745561217 0.00001
NM_001042492.3(NF1):c.2794A>G (p.Met932Val) rs886052800 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.7135G>A (p.Gly2379Arg) rs775476318 0.00001
NM_001065.4(TNFRSF1A):c.1256A>G (p.Glu419Gly) rs1454639907 0.00001
NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile) rs34751757 0.00001
NM_001065.4(TNFRSF1A):c.323-3C>G rs1328399119 0.00001
NM_001065.4(TNFRSF1A):c.914C>G (p.Pro305Arg) rs1344445194 0.00001
NM_001072.4(UGT1A6):c.554G>A (p.Ser185Asn) rs1300409314 0.00001
NM_001084.5(PLOD3):c.1355G>A (p.Arg452Gln) rs370762684 0.00001
NM_001084.5(PLOD3):c.2200T>A (p.Ser734Thr) rs1432678087 0.00001
NM_001105578.2(SYCE2):c.365A>G (p.Asn122Ser) rs757137841 0.00001
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile) rs782791907 0.00001
NM_001110556.2(FLNA):c.1555G>A (p.Val519Met) rs938952718 0.00001
NM_001110556.2(FLNA):c.3460G>A (p.Val1154Met) rs1557177750 0.00001
NM_001110556.2(FLNA):c.4997T>C (p.Ile1666Thr) rs863223639 0.00001
NM_001110556.2(FLNA):c.7000C>T (p.Arg2334Cys) rs782689584 0.00001
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) rs781878646 0.00001
NM_001130413.4(SCNN1D):c.736C>T (p.Arg246Cys) rs781244314 0.00001
NM_001130823.3(DNMT1):c.4193C>T (p.Ser1398Leu) rs375225009 0.00001
NM_001134398.2(VAV2):c.1533-8C>G rs748269402 0.00001
NM_001142864.4(PIEZO1):c.2059C>T (p.Pro687Ser) rs1380859676 0.00001
NM_001142864.4(PIEZO1):c.3461A>G (p.Tyr1154Cys) rs1348948980 0.00001
NM_001142864.4(PIEZO1):c.3523T>G (p.Phe1175Val) rs773476725 0.00001
NM_001142864.4(PIEZO1):c.6160G>C (p.Glu2054Gln) rs1334902592 0.00001
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln) rs559847737 0.00001
NM_001142864.4(PIEZO1):c.6800C>T (p.Thr2267Met) rs868467734 0.00001
NM_001142864.4(PIEZO1):c.6892G>A (p.Asp2298Asn) rs760099159 0.00001
NM_001142864.4(PIEZO1):c.7130-5C>A rs1357808025 0.00001
NM_001142864.4(PIEZO1):c.7316G>A (p.Gly2439Asp) rs1353678309 0.00001
NM_001142864.4(PIEZO1):c.7387T>G (p.Ser2463Ala) rs780322188 0.00001
NM_001142864.4(PIEZO1):c.880A>G (p.Thr294Ala) rs1228399328 0.00001
NM_001142864.4(PIEZO1):c.881C>T (p.Thr294Ile) rs930725947 0.00001
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp) rs758424787 0.00001
NM_001148.6(ANK2):c.9587C>T (p.Ser3196Leu) rs144719173 0.00001
NM_001199397.3(NEK1):c.3559G>A (p.Ala1187Thr) rs772991635 0.00001
NM_001235.5(SERPINH1):c.827A>C (p.Glu276Ala) rs148613550 0.00001
NM_001243133.2(NLRP3):c.431G>A (p.Ser144Asn) rs768059813 0.00001
NM_001256317.3(TMPRSS3):c.1187G>T (p.Cys396Phe) rs773711263 0.00001
NM_001267550.2(TTN):c.100649G>A (p.Gly33550Asp) rs370253076 0.00001
NM_001267550.2(TTN):c.107900G>A (p.Gly35967Glu) rs780316966 0.00001
NM_001267550.2(TTN):c.13205C>T (p.Ala4402Val) rs756976503 0.00001
NM_001267550.2(TTN):c.17807T>C (p.Ile5936Thr) rs1365679296 0.00001
NM_001267550.2(TTN):c.19036G>A (p.Val6346Met) rs537966944 0.00001
NM_001267550.2(TTN):c.24302T>A (p.Ile8101Asn) rs200423910 0.00001
NM_001267550.2(TTN):c.30196G>C (p.Glu10066Gln) rs370072382 0.00001
NM_001267550.2(TTN):c.33791C>T (p.Pro11264Leu) rs1336824666 0.00001
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503 0.00001
NM_001267550.2(TTN):c.42646A>C (p.Lys14216Gln) rs1450576387 0.00001
NM_001267550.2(TTN):c.48952A>C (p.Ile16318Leu) rs962564634 0.00001
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) rs372618781 0.00001
NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys) rs760963888 0.00001
NM_001267550.2(TTN):c.55480G>A (p.Gly18494Ser) rs368523054 0.00001
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg) rs373636513 0.00001
NM_001267550.2(TTN):c.67151G>A (p.Ser22384Asn) rs1451120123 0.00001
NM_001267550.2(TTN):c.72514A>G (p.Asn24172Asp) rs1457842450 0.00001
NM_001267550.2(TTN):c.77984G>A (p.Gly25995Asp) rs745801476 0.00001
NM_001267550.2(TTN):c.93140G>A (p.Arg31047Gln) rs753897943 0.00001
NM_001267550.2(TTN):c.94486G>A (p.Glu31496Lys) rs769175534 0.00001
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn) rs141805127 0.00001
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=) rs200813995 0.00001
NM_001282426.2(PIK3CG):c.1527C>A (p.Asp509Glu) rs140765012 0.00001
NM_001302769.2(PARD3B):c.3042C>T (p.Asp1014=) rs375164744 0.00001
NM_001303.4(COX10):c.380T>C (p.Ile127Thr) rs201424119 0.00001
NM_001330.5(CTF1):c.34C>T (p.Gln12Ter) rs369917781 0.00001
NM_001350451.2(RBFOX3):c.688C>T (p.Arg230Trp) rs1170085775 0.00001
NM_001355436.2(SPTB):c.2858C>G (p.Ala953Gly) rs983201841 0.00001
NM_001355436.2(SPTB):c.3010G>A (p.Val1004Met) rs779906104 0.00001
NM_001355436.2(SPTB):c.4273G>A (p.Glu1425Lys) rs781231618 0.00001
NM_001355436.2(SPTB):c.5222C>T (p.Ala1741Val) rs745940095 0.00001
NM_001355436.2(SPTB):c.5486G>A (p.Ser1829Asn) rs766226678 0.00001
NM_001355436.2(SPTB):c.5863C>T (p.Arg1955Trp) rs747917733 0.00001
NM_001360016.2(G6PD):c.337G>T (p.Asp113Tyr) rs5030870 0.00001
NM_001360016.2(G6PD):c.889G>A (p.Glu297Lys) rs781975796 0.00001
NM_001364905.1(LRBA):c.7865T>C (p.Val2622Ala) rs541116943 0.00001
NM_001366122.1(KCP):c.4120A>T (p.Ile1374Phe) rs1217738697 0.00001
NM_001368067.1(LDB3):c.418G>A (p.Val140Met) rs745329859 0.00001
NM_001370259.2(MEN1):c.1397A>T (p.Glu466Val) rs1352053477 0.00001
NM_001370466.1(NOD2):c.1459T>C (p.Tyr487His) rs540122692 0.00001
NM_001370466.1(NOD2):c.2150G>A (p.Arg717Gln) rs751849531 0.00001
NM_001370466.1(NOD2):c.565+1G>A rs766614906 0.00001
NM_001374353.1(GLI2):c.1157C>T (p.Pro386Leu) rs757467621 0.00001
NM_001375808.2(LPIN2):c.766C>A (p.Leu256Ile) rs765149855 0.00001
NM_001376571.1(MADD):c.4402C>T (p.Arg1468Cys) rs141562374 0.00001
NM_001377.3(DYNC2H1):c.2996C>T (p.Thr999Ile) rs753542063 0.00001
NM_001377.3(DYNC2H1):c.9842T>C (p.Ile3281Thr) rs1204094235 0.00001
NM_001377229.1(DISP1):c.1843A>G (p.Thr615Ala) rs1231766318 0.00001
NM_001378457.1(DMXL2):c.2486G>A (p.Arg829Gln) rs773900028 0.00001
NM_001379610.1(SPINK1):c.-40G>A rs560283989 0.00001
NM_001379610.1(SPINK1):c.82A>G (p.Arg28Gly) rs375368064 0.00001
NM_001457.4(FLNB):c.1808C>T (p.Ser603Leu) rs764538938 0.00001
NM_001457.4(FLNB):c.2356C>T (p.Arg786Trp) rs201452322 0.00001
NM_001457.4(FLNB):c.2744A>G (p.Gln915Arg) rs771989645 0.00001
NM_001457.4(FLNB):c.4774G>A (p.Val1592Ile) rs754360853 0.00001
NM_001457.4(FLNB):c.6211G>A (p.Val2071Ile) rs201831615 0.00001
NM_001498.4(GCLC):c.380G>A (p.Arg127His) rs1442991694 0.00001
NM_001498.4(GCLC):c.500G>A (p.Gly167Glu) rs1432552924 0.00001
NM_001605.3(AARS1):c.2478G>A (p.Met826Ile) rs1385044712 0.00001
NM_001605.3(AARS1):c.907C>T (p.Arg303Trp) rs1302363015 0.00001
NM_001770.6(CD19):c.962G>A (p.Arg321Lys) rs1567506579 0.00001
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu) rs904660062 0.00001
NM_001876.4(CPT1A):c.407T>C (p.Met136Thr) rs1205599161 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NM_001972.4(ELANE):c.235G>T (p.Ala79Ser) rs769123461 0.00001
NM_001972.4(ELANE):c.305A>G (p.Gln102Arg) rs568474579 0.00001
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367 0.00001
NM_001999.4(FBN2):c.5974A>G (p.Asn1992Asp) rs1437992406 0.00001
NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser) rs143054385 0.00001
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu) rs755134019 0.00001
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val) rs863223546 0.00001
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu) rs776761421 0.00001
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly) rs768293070 0.00001
NM_002047.4(GARS1):c.2168A>G (p.Tyr723Cys) rs559061999 0.00001
NM_002109.6(HARS1):c.907A>C (p.Lys303Gln) rs774041144 0.00001
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys) rs536556753 0.00001
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp) rs761440964 0.00001
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527 0.00001
NM_002246.3(KCNK3):c.952C>T (p.Arg318Cys) rs780914900 0.00001
NM_002296.4(LBR):c.1130G>A (p.Arg377Gln) rs750036742 0.00001
NM_002335.4(LRP5):c.2009C>T (p.Pro670Leu) rs201207267 0.00001
NM_002439.5(MSH3):c.344T>C (p.Met115Thr) rs1424813265 0.00001
NM_002471.4(MYH6):c.101G>A (p.Arg34His) rs762303505 0.00001
NM_002471.4(MYH6):c.2087G>A (p.Arg696His) rs757728653 0.00001
NM_002472.3(MYH8):c.1268T>G (p.Val423Gly) rs747960533 0.00001
NM_002474.3(MYH11):c.1574C>T (p.Pro525Leu) rs750288554 0.00001
NM_002474.3(MYH11):c.3619G>A (p.Glu1207Lys) rs371831822 0.00001
NM_002474.3(MYH11):c.534C>T (p.Gly178=) rs764984716 0.00001
NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe) rs759033733 0.00001
NM_002661.5(PLCG2):c.337+2T>C rs866001196 0.00001
NM_002691.4(POLD1):c.1561C>T (p.Arg521Trp) rs1341055535 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002691.4(POLD1):c.917G>A (p.Arg306His) rs781682472 0.00001
NM_002880.4(RAF1):c.1688G>A (p.Arg563Gln) rs727504827 0.00001
NM_002890.3(RASA1):c.203G>C (p.Gly68Ala) rs771016186 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys) rs199754684 0.00001
NM_003036.4(SKI):c.163G>C (p.Ala55Pro) rs769506718 0.00001
NM_003072.5(SMARCA4):c.4171-1854T>C rs1157173095 0.00001
NM_003098.3(SNTA1):c.23C>T (p.Pro8Leu) rs1216164802 0.00001
NM_003126.4(SPTA1):c.1471T>C (p.Trp491Arg) rs1461673453 0.00001
NM_003126.4(SPTA1):c.2876G>A (p.Arg959Gln) rs754523316 0.00001
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser) rs774722673 0.00001
NM_003126.4(SPTA1):c.551T>G (p.Val184Gly) rs746827368 0.00001
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys) rs773800556 0.00001
NM_003238.6(TGFB2):c.970A>G (p.Ile324Val) rs866788278 0.00001
NM_003239.5(TGFB3):c.440T>G (p.Phe147Cys) rs752691299 0.00001
NM_003242.6(TGFBR2):c.94+16293C>A rs138262219 0.00001
NM_003696.3(OR6A2):c.199A>G (p.Met67Val) rs754845071 0.00001
NM_003737.4(DCHS1):c.6403G>A (p.Glu2135Lys) rs1166792634 0.00001
NM_003849.4(SUCLG1):c.827G>T (p.Gly276Val) rs777671418 0.00001
NM_004006.3(DMD):c.1219A>G (p.Ile407Val) rs1463021278 0.00001
NM_004006.3(DMD):c.3446A>C (p.Lys1149Thr) rs398123940 0.00001
NM_004006.3(DMD):c.4404G>T (p.Glu1468Asp) rs1462655612 0.00001
NM_004006.3(DMD):c.5506C>G (p.Gln1836Glu) rs770845480 0.00001
NM_004086.3(COCH):c.177C>A (p.Phe59Leu) rs772104254 0.00001
NM_004208.4(AIFM1):c.1151A>G (p.Lys384Arg) rs1217648919 0.00001
NM_004239.4(TRIP11):c.111G>A (p.Met37Ile) rs902936427 0.00001
NM_004239.4(TRIP11):c.1240G>T (p.Ala414Ser) rs761670358 0.00001
NM_004239.4(TRIP11):c.332A>C (p.Lys111Thr) rs770534000 0.00001
NM_004239.4(TRIP11):c.5645C>A (p.Ser1882Tyr) rs371689436 0.00001
NM_004329.3(BMPR1A):c.1411C>T (p.Arg471Cys) rs771452619 0.00001
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met) rs587782856 0.00001
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile) rs556110297 0.00001
NM_004415.4(DSP):c.5120A>T (p.Gln1707Leu) rs768870428 0.00001
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789 0.00001
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys) rs748825632 0.00001
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn) rs760552749 0.00001
NM_004415.4(DSP):c.8253C>G (p.Ile2751Met) rs1165200201 0.00001
NM_004444.5(EPHB4):c.1549C>A (p.Pro517Thr) rs1457869824 0.00001
NM_004563.4(PCK2):c.260C>G (p.Pro87Arg) rs1363281259 0.00001
NM_004655.4(AXIN2):c.1646A>G (p.Tyr549Cys) rs1369622684 0.00001
NM_004863.4(SPTLC2):c.701C>T (p.Ala234Val) rs761202531 0.00001
NM_004990.4(MARS1):c.2132T>C (p.Ile711Thr) rs1051420158 0.00001
NM_004990.4(MARS1):c.631G>A (p.Ala211Thr) rs147034935 0.00001
NM_005188.4(CBL):c.1227+5G>A rs756550704 0.00001
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) rs147621330 0.00001
NM_005359.6(SMAD4):c.698A>G (p.His233Arg) rs1555685910 0.00001
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe) rs1229812463 0.00001
NM_005359.6(SMAD4):c.956-4A>G rs1295343500 0.00001
NM_005428.4(VAV1):c.472G>A (p.Asp158Asn) rs765401527 0.00001
NM_005529.7(HSPG2):c.1355+5G>A rs781394836 0.00001
NM_005529.7(HSPG2):c.1759C>T (p.Arg587Cys) rs1386810012 0.00001
NM_005529.7(HSPG2):c.1868C>T (p.Ala623Val) rs1433786790 0.00001
NM_005529.7(HSPG2):c.1988A>C (p.Gln663Pro) rs1330866141 0.00001
NM_005529.7(HSPG2):c.2039C>T (p.Ala680Val) rs374004974 0.00001
NM_005529.7(HSPG2):c.5348T>C (p.Val1783Ala) rs1031570794 0.00001
NM_005529.7(HSPG2):c.6445G>A (p.Gly2149Ser) rs561417019 0.00001
NM_005529.7(HSPG2):c.9893C>T (p.Pro3298Leu) rs772760659 0.00001
NM_005548.3(KARS1):c.232A>G (p.Lys78Glu) rs1298428928 0.00001
NM_005591.4(MRE11):c.895A>T (p.Ile299Phe) rs587782169 0.00001
NM_005751.5(AKAP9):c.1859C>A (p.Ala620Asp) rs774013935 0.00001
NM_005751.5(AKAP9):c.460C>A (p.Pro154Thr) rs746612786 0.00001
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566 0.00001
NM_005751.5(AKAP9):c.7555T>C (p.Tyr2519His) rs752977579 0.00001
NM_005751.5(AKAP9):c.8585A>G (p.Gln2862Arg) rs752618658 0.00001
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) rs727503750 0.00001
NM_006005.3(WFS1):c.601C>A (p.Leu201Met) rs529580583 0.00001
NM_006231.4(POLE):c.6511A>G (p.Lys2171Glu) rs760678210 0.00001
NM_006258.4(PRKG1):c.259G>A (p.Asp87Asn) rs1282024063 0.00001
NM_006329.4(FBLN5):c.731A>G (p.His244Arg) rs966392105 0.00001
NM_006363.6(SEC23B):c.1873C>A (p.Leu625Ile) rs368458175 0.00001
NM_006363.6(SEC23B):c.2028C>A (p.Asp676Glu) rs767325467 0.00001
NM_006790.3(MYOT):c.1242C>T (p.Asn414=) rs1173495538 0.00001
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln) rs150868546 0.00001
NM_007078.3(LDB3):c.236C>T (p.Thr79Ile) rs397517221 0.00001
NM_007078.3(LDB3):c.415A>G (p.Arg139Gly) rs199801766 0.00001
NM_007078.3(LDB3):c.519C>G (p.Ser173Arg) rs1845139039 0.00001
NM_007078.3(LDB3):c.790G>A (p.Ala264Thr) rs146414300 0.00001
NM_007078.3(LDB3):c.938C>T (p.Thr313Ile) rs367882377 0.00001
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val) rs199749372 0.00001
NM_007272.3(CTRC):c.202T>A (p.Phe68Ile) rs772513025 0.00001
NM_007272.3(CTRC):c.606C>T (p.Cys202=) rs543348635 0.00001
NM_007272.3(CTRC):c.719G>A (p.Arg240Gln) rs760962602 0.00001
NM_007272.3(CTRC):c.752T>C (p.Val251Ala) rs1175956798 0.00001
NM_007294.4(BRCA1):c.2483_2485del (p.Gly828_Phe829delinsVal) rs80358331 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.2666C>T (p.Ser889Phe) rs769712441 0.00001
NM_007294.4(BRCA1):c.3965A>C (p.Lys1322Thr) rs80357042 0.00001
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu) rs398122695 0.00001
NM_007294.4(BRCA1):c.86A>G (p.Glu29Gly) rs773841328 0.00001
NM_014000.3(VCL):c.550C>T (p.His184Tyr) rs1321660809 0.00001
NM_014236.4(GNPAT):c.1687A>G (p.Asn563Asp) rs200007027 0.00001
NM_014874.4(MFN2):c.1729A>G (p.Ile577Val) rs749606728 0.00001
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn) rs1285317289 0.00001
NM_015374.3(SUN2):c.1766G>A (p.Arg589Gln) rs1446967356 0.00001
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys) rs544727246 0.00001
NM_015915.5(ATL1):c.1247G>A (p.Arg416His) rs1395551564 0.00001
NM_016156.6(MTMR2):c.1661C>T (p.Pro554Leu) rs750110066 0.00001
NM_016239.4(MYO15A):c.328C>T (p.Arg110Cys) rs779554298 0.00001
NM_016247.4(IMPG2):c.2431T>G (p.Ser811Ala) rs76048775 0.00001
NM_017433.5(MYO3A):c.374C>T (p.Pro125Leu) rs756557890 0.00001
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024 0.00001
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) rs1085307869 0.00001
NM_017636.4(TRPM4):c.640C>T (p.Arg214Cys) rs149860526 0.00001
NM_017636.4(TRPM4):c.689C>T (p.Ser230Leu) rs558212476 0.00001
NM_018006.5(TRMU):c.814G>A (p.Gly272Ser) rs1230867178 0.00001
NM_018100.4(EFHC1):c.754A>G (p.Thr252Ala) rs1435544341 0.00001
NM_019077.3(UGT1A7):c.565T>C (p.Tyr189His) rs773379672 0.00001
NM_020779.4(WDR35):c.1854T>G (p.Ile618Met) rs767714993 0.00001
NM_020779.4(WDR35):c.529A>G (p.Asn177Asp) rs747028453 0.00001
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met) rs771889785 0.00001
NM_021074.5(NDUFV2):c.116T>G (p.Phe39Cys) rs756896914 0.00001
NM_021098.3(CACNA1H):c.4089C>G (p.Ser1363Arg) rs867556563 0.00001
NM_021098.3(CACNA1H):c.4760-5T>A rs1474686670 0.00001
NM_021625.5(TRPV4):c.-16C>T rs762801533 0.00001
NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn) rs368963822 0.00001
NM_021625.5(TRPV4):c.535C>T (p.Arg179Cys) rs751647405 0.00001
NM_021625.5(TRPV4):c.914C>T (p.Thr305Met) rs754582307 0.00001
NM_021815.5(SLC5A7):c.1181C>G (p.Ala394Gly) rs750242187 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021939.4(FKBP10):c.1640T>C (p.Ile547Thr) rs368139860 0.00001
NM_021939.4(FKBP10):c.311G>A (p.Arg104Gln) rs142507953 0.00001
NM_021939.4(FKBP10):c.505C>T (p.Arg169Cys) rs782676847 0.00001
NM_022114.4(PRDM16):c.109G>A (p.Glu37Lys) rs369539275 0.00001
NM_022114.4(PRDM16):c.2428C>T (p.Arg810Trp) rs776055411 0.00001
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320 0.00001
NM_022124.6(CDH23):c.6707A>G (p.Asn2236Ser) rs545514111 0.00001
NM_022356.4(P3H1):c.1792C>T (p.Leu598Phe) rs1344810292 0.00001
NM_022489.4(INF2):c.2989G>A (p.Asp997Asn) rs370719592 0.00001
NM_022489.4(INF2):c.368G>A (p.Gly123Asp) rs994483790 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_024009.3(GJB3):c.718C>T (p.Arg240Cys) rs753842104 0.00001
NM_024334.3(TMEM43):c.1115G>A (p.Arg372Gln) rs749140979 0.00001
NM_024426.6(WT1):c.26C>T (p.Pro9Leu) rs948132360 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024753.5(TTC21B):c.3581A>G (p.Glu1194Gly) rs764848148 0.00001
NM_024996.7(GFM1):c.1429G>T (p.Asp477Tyr) rs138058648 0.00001
NM_025132.4(WDR19):c.1066G>A (p.Ala356Thr) rs565630355 0.00001
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser) rs370948119 0.00001
NM_025132.4(WDR19):c.3397T>C (p.Tyr1133His) rs1187864679 0.00001
NM_030929.5(KAZALD1):c.671A>G (p.Gln224Arg) rs1348017309 0.00001
NM_030962.4(SBF2):c.4666T>C (p.Phe1556Leu) rs189911105 0.00001
NM_032043.3(BRIP1):c.3505G>T (p.Asp1169Tyr) rs587782029 0.00001
NM_032119.4(ADGRV1):c.10882C>T (p.Pro3628Ser) rs564470089 0.00001
NM_032119.4(ADGRV1):c.323C>G (p.Pro108Arg) rs1158908533 0.00001
NM_032119.4(ADGRV1):c.5707T>A (p.Trp1903Arg) rs1554081484 0.00001
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp) rs397517434 0.00001
NM_053025.4(MYLK):c.243G>A (p.Leu81=) rs1033918125 0.00001
NM_053025.4(MYLK):c.3085G>A (p.Ala1029Thr) rs1302330903 0.00001
NM_053025.4(MYLK):c.4093T>A (p.Ser1365Thr) rs747543921 0.00001
NM_053025.4(MYLK):c.4301A>G (p.Glu1434Gly) rs771619672 0.00001
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His) rs138667578 0.00001
NM_130837.3(OPA1):c.1744A>C (p.Lys582Gln) rs766935532 0.00001
NM_133379.5(TTN):c.12121G>A (p.Val4041Ile) rs761151353 0.00001
NM_133379.5(TTN):c.15484T>C (p.Trp5162Arg) rs921768334 0.00001
NM_138382.3(RIPPLY1):c.256G>A (p.Glu86Lys) rs1383048808 0.00001
NM_138477.4(CDAN1):c.2174G>A (p.Arg725Gln) rs962870388 0.00001
NM_144573.4(NEXN):c.906T>A (p.Phe302Leu) rs767740199 0.00001
NM_145015.5(MRGPRF):c.896C>T (p.Ser299Leu) rs1296210806 0.00001
NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn) rs757316188 0.00001
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln) rs773470850 0.00001
NM_147127.5(EVC2):c.3570C>G (p.Ser1190Arg) rs763892029 0.00001
NM_152772.3(TCP11L2):c.253G>A (p.Glu85Lys) rs765611865 0.00001
NM_153339.3(PUSL1):c.693T>G (p.Tyr231Ter) rs563462883 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_177438.3(DICER1):c.4412C>T (p.Pro1471Leu) rs1060503657 0.00001
NM_177438.3(DICER1):c.5762A>G (p.Asn1921Ser) rs764747360 0.00001
NM_181882.3(PRX):c.994A>G (p.Thr332Ala) rs143710873 0.00001
NM_182925.5(FLT4):c.2002A>G (p.Lys668Glu) rs1397184267 0.00001
NM_182961.4(SYNE1):c.16709A>G (p.Gln5570Arg) rs928178334 0.00001
NM_194454.3(KRIT1):c.1369A>G (p.Thr457Ala) rs1230178894 0.00001
NM_194454.3(KRIT1):c.815A>G (p.Gln272Arg) rs765542241 0.00001
NM_198999.3(SLC26A5):c.1658G>A (p.Ser553Asn) rs193110872 0.00001
NM_206933.4(USH2A):c.12273G>A (p.Met4091Ile) rs751834009 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala) rs754703964 0.00001
NM_206933.4(USH2A):c.8380G>A (p.Val2794Ile) rs373984123 0.00001
NM_213595.4(ISCU):c.115-152T>C rs781448429 0.00001
NM_213655.5(WNK1):c.3575C>T (p.Thr1192Ile) rs1217942716 0.00001
NR_001566.1(TERC):n.165G>A rs367842608 0.00001
NC_000011.10:g.5227205C>G rs559819102
NC_012920.1(MT-CYB):m.1282G>A rs1569483805
NC_012920.1(MT-CYB):m.14701C>T rs1569484669
NC_012920.1(MT-CYB):m.14969T>C rs1569484685
NC_012920.1(MT-CYB):m.15467A>G rs1569484723
NC_012920.1(MT-CYB):m.1619C>T rs1569483811
NC_012920.1(MT-ND4):m.10931T>C rs1569484408
NC_012920.1(MT-ND4L):m.10644G>A rs1569484385
NC_012920.1(MT-ND5):m.13528A>G rs55882959
NC_012920.1(MT-ND6):m.14633A>G rs1569484667
NC_012920.1:m.11016G>C rs28594904
NC_012920.1:m.12177A>G rs1569484492
NC_012920.1:m.12889G>A rs1556424185
NC_012920.1:m.3991A>G rs1569483910
NC_012920.1:m.4305A>G rs1569483932
NC_012920.1:m.4597T>C rs1569483945
NC_012920.1:m.6054G>A rs1569484049
NC_012920.1:m.8156G>C rs1569484189
NC_012920.1:m.8202T>C rs1569484193
NC_012920.1:m.8553C>T rs1569484219
NC_012920.1:m.8669G>C rs1569484228
NC_012920.1:m.8686T>A rs1569484231
NC_012920.1:m.8800T>C rs1569484239
NC_012920.1:m.9318C>T rs1569484294
NC_012920.1:m.9714G>A rs1556423712
NM_000016.6(ACADM):c.15C>A (p.Phe5Leu) rs1024056446
NM_000018.4(ACADVL):c.1052C>T (p.Thr351Ile) rs796051911
NM_000018.4(ACADVL):c.1281G>C (p.Trp427Cys) rs1567567312
NM_000018.4(ACADVL):c.1287G>A (p.Val429=) rs999226548
NM_000019.4(ACAT1):c.182TGC[1] (p.Leu62del) rs1565288438
NM_000020.3(ACVRL1):c.1276T>A (p.Tyr426Asn) rs1565596460
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys) rs757645341
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000022.4(ADA):c.367G>A (p.Asp123Asn) rs1458135388
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr) rs769778891
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr) rs1569540700
NM_000033.4(ABCD1):c.900+7C>T rs2091712393
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu) rs183864227
NM_000038.6(APC):c.2408C>G (p.Thr803Ser) rs587780591
NM_000038.6(APC):c.6248T>C (p.Ile2083Thr) rs758715972
NM_000038.6(APC):c.8465G>C (p.Ser2822Thr) rs1421264825
NM_000038.6(APC):c.8466C>A (p.Ser2822Arg) rs1561623566
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys) rs79220522
NM_000051.4(ATM):c.380C>T (p.Thr127Ile) rs2079238567
NM_000051.4(ATM):c.502T>C (p.Phe168Leu) rs1565369177
NM_000051.4(ATM):c.6975G>C (p.Ala2325=) rs556778314
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys) rs375071383
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2708T>G (p.Val903Gly) rs1566500467
NM_000059.4(BRCA2):c.10061C>T (p.Ser3354Phe)
NM_000059.4(BRCA2):c.10156_10158del (p.Cys3386del)
NM_000059.4(BRCA2):c.10176del (p.Glu3393fs) rs80359258
NM_000059.4(BRCA2):c.1885C>G (p.Leu629Val) rs398122734
NM_000059.4(BRCA2):c.2077T>C (p.Cys693Arg) rs878853558
NM_000059.4(BRCA2):c.2097G>T (p.Gln699His) rs80358486
NM_000059.4(BRCA2):c.2104A>G (p.Ile702Val) rs774968533
NM_000059.4(BRCA2):c.2224C>A (p.Gln742Lys) rs80358494
NM_000059.4(BRCA2):c.227C>T (p.Ser76Leu) rs80358498
NM_000059.4(BRCA2):c.2810A>C (p.Gln937Pro) rs730881516
NM_000059.4(BRCA2):c.3010A>G (p.Ser1004Gly) rs398122759
NM_000059.4(BRCA2):c.3367A>G (p.Ser1123Gly) rs80358581
NM_000059.4(BRCA2):c.3458A>G (p.Lys1153Arg) rs80358594
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys) rs80358598
NM_000059.4(BRCA2):c.3710C>T (p.Ala1237Val)
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser) rs398122773
NM_000059.4(BRCA2):c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle) rs276174841
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr) rs80358655
NM_000059.4(BRCA2):c.4165T>G (p.Phe1389Val) rs1409088355
NM_000059.4(BRCA2):c.4373A>G (p.His1458Arg) rs587782185
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser) rs80358709
NM_000059.4(BRCA2):c.48_50delinsAAT (p.Thr17Ile)
NM_000059.4(BRCA2):c.50C>T (p.Thr17Ile) rs386833396
NM_000059.4(BRCA2):c.5108A>T (p.Glu1703Val) rs746177907
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr) rs587782007
NM_000059.4(BRCA2):c.5537T>C (p.Ile1846Thr) rs763330257
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile) rs80358777
NM_000059.4(BRCA2):c.6255A>T (p.Leu2085Phe) rs730881579
NM_000059.4(BRCA2):c.6277C>T (p.His2093Tyr) rs1593908107
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu) rs35029074
NM_000059.4(BRCA2):c.6443C>T (p.Ser2148Phe) rs80358880
NM_000059.4(BRCA2):c.6714T>G (p.Asp2238Glu) rs28897742
NM_000059.4(BRCA2):c.6936T>A (p.Asp2312Glu) rs80358917
NM_000059.4(BRCA2):c.7039C>G (p.Pro2347Ala) rs876660668
NM_000059.4(BRCA2):c.7051G>C (p.Ala2351Pro) rs80358930
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.4(BRCA2):c.7715G>A (p.Ser2572Asn) rs2072709892
NM_000059.4(BRCA2):c.7811T>C (p.Leu2604Pro) rs431825357
NM_000059.4(BRCA2):c.8189C>T (p.Ala2730Val) rs80359067
NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe) rs80359138
NM_000059.4(BRCA2):c.8835G>C (p.Gln2945His) rs1566252630
NM_000059.4(BRCA2):c.8944_8946del (p.Lys2982del) rs80359733
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2]) rs786202063
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9284A>G (p.Asp3095Gly) rs1060502443
NM_000059.4(BRCA2):c.941A>T (p.Lys314Ile)
NM_000059.4(BRCA2):c.9562G>A (p.Asp3188Asn) rs80359226
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9719T>G (p.Val3240Gly) rs1566260882
NM_000061.3(BTK):c.1625T>C (p.Leu542Pro) rs128621203
NM_000061.3(BTK):c.337G>A (p.Val113Ile) rs2147443453
NM_000071.3(CBS):c.170G>A (p.Gly57Asp) rs1295461215
NM_000071.3(CBS):c.450C>T (p.Thr150=) rs750030593
NM_000071.3(CBS):c.667-10_667-7del rs376011228
NM_000088.4(COL1A1):c.1351C>G (p.Pro451Ala) rs1907454557
NM_000088.4(COL1A1):c.1767+4A>G rs2144569023
NM_000088.4(COL1A1):c.2361C>A (p.Ser787Arg)
NM_000088.4(COL1A1):c.260C>T (p.Pro87Leu) rs926503489
NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn)
NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn) rs982770651
NM_000088.4(COL1A1):c.4192A>G (p.Ile1398Val)
NM_000089.4(COL1A2):c.2320G>T (p.Ala774Ser) rs1584326654
NM_000089.4(COL1A2):c.265G>C (p.Gly89Arg)
NM_000089.4(COL1A2):c.3267+4A>G rs2115958188
NM_000089.4(COL1A2):c.3638C>A (p.Ala1213Asp)
NM_000089.4(COL1A2):c.3785A>G (p.Asn1262Ser) rs1562908780
NM_000089.4(COL1A2):c.602C>T (p.Pro201Leu)
NM_000090.4(COL3A1):c.111G>C (p.Gln37His) rs2153501346
NM_000090.4(COL3A1):c.2399G>A (p.Arg800Lys) rs199564715
NM_000090.4(COL3A1):c.2713C>T (p.Pro905Ser) rs112640146
NM_000090.4(COL3A1):c.3124G>A (p.Ala1042Thr) rs2153503724
NM_000090.4(COL3A1):c.419T>C (p.Ile140Thr) rs750849196
NM_000090.4(COL3A1):c.636+5_636+8del rs1688112903
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=) rs781663334
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser) rs187022757
NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser) rs1838678972
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu) rs2132853817
NM_000095.3(COMP):c.1247C>T (p.Pro416Leu) rs764546396
NM_000095.3(COMP):c.1737C>T (p.Gly579=) rs1568554284
NM_000112.4(SLC26A2):c.924C>G (p.Ser308Arg) rs767409327
NM_000117.3(EMD):c.128C>G (p.Thr43Ser) rs1569552081
NM_000128.4(F11):c.448A>G (p.Thr150Ala) rs1740201176
NM_000132.4(F8):c.1301G>T (p.Gly434Val) rs1569559866
NM_000132.4(F8):c.1457A>T (p.Asn486Ile)
NM_000132.4(F8):c.2092T>G (p.Phe698Val)
NM_000132.4(F8):c.244A>G (p.Lys82Glu) rs1283070296
NM_000132.4(F8):c.359T>C (p.Val120Ala) rs1569560006
NM_000132.4(F8):c.37C>T (p.Leu13Phe)
NM_000132.4(F8):c.4163C>T (p.Pro1388Leu)
NM_000132.4(F8):c.521C>T (p.Thr174Ile)
NM_000132.4(F8):c.6066C>T (p.Gly2022=)
NM_000132.4(F8):c.6245G>A (p.Ser2082Asn) rs1569559494
NM_000132.4(F8):c.6653T>A (p.Met2218Lys)
NM_000133.4(F9):c.1196T>C (p.Phe399Ser) rs2148368081
NM_000133.4(F9):c.196G>A (p.Glu66Lys) rs1569481975
NM_000133.4(F9):c.517G>A (p.Ala173Thr) rs865782271
NM_000133.4(F9):c.87A>G (p.Thr29=) rs2148353000
NM_000133.4(F9):c.934T>G (p.Tyr312Asp) rs1569332828
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp) rs768253008
NM_000138.5(FBN1):c.2171T>C (p.Ile724Thr) rs878853677
NM_000138.5(FBN1):c.2323C>T (p.Leu775Phe)
NM_000138.5(FBN1):c.2360G>T (p.Ser787Ile)
NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu) rs1060501091
NM_000138.5(FBN1):c.2752C>T (p.Pro918Ser) rs1555398992
NM_000138.5(FBN1):c.3467T>G (p.Ile1156Ser) rs2043515378
NM_000138.5(FBN1):c.3589+6T>C rs766478869
NM_000138.5(FBN1):c.4583-9G>A rs2043338449
NM_000138.5(FBN1):c.4612A>G (p.Ile1538Val) rs2043337939
NM_000138.5(FBN1):c.5432A>G (p.Glu1811Gly) rs2141256116
NM_000138.5(FBN1):c.5729G>A (p.Gly1910Asp) rs1566898786
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His)
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu) rs1566898093
NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu)
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp) rs2141237031
NM_000138.5(FBN1):c.695G>C (p.Arg232Pro)
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val) rs112369155
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7759G>A (p.Gly2587Ser) rs2042934369
NM_000138.5(FBN1):c.8055C>G (p.His2685Gln) rs1309361114
NM_000138.5(FBN1):c.8120A>G (p.Asp2707Gly) rs1566889150
NM_000138.5(FBN1):c.8408T>C (p.Phe2803Ser) rs2141209869
NM_000138.5(FBN1):c.988+3A>G
NM_000141.5(FGFR2):c.1349G>A (p.Arg450His)
NM_000142.5(FGFR3):c.955_957del (p.Lys319del)
NM_000144.5(FXN):c.34C>G (p.Leu12Val) rs1168839252
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) rs143491365
NM_000157.4(GBA1):c.350T>C (p.Val117Ala)
NM_000157.4(GBA1):c.355G>C (p.Gly119Arg) rs1553218180
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
NM_000162.5(GCK):c.431T>C (p.Leu144Pro) rs1554335596
NM_000162.5(GCK):c.431_432delinsCT (p.Leu144Pro)
NM_000178.4(GSS):c.1073C>G (p.Pro358Arg) rs752295865
NM_000179.3(MSH6):c.1795G>C (p.Gly599Arg) rs756043669
NM_000179.3(MSH6):c.2383A>G (p.Ile795Val) rs865931684
NM_000179.3(MSH6):c.3438+5C>G rs777420424
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000182.5(HADHA):c.1543G>A (p.Glu515Lys) rs763353852
NM_000184.3(HBG2):c.358G>C (p.Gly120Arg) rs765691029
NM_000184.3(HBG2):c.397A>C (p.Lys133Gln) rs2133612273
NM_000188.3(HK1):c.1690A>G (p.Ile564Val)
NM_000188.3(HK1):c.2314A>T (p.Ile772Phe) rs1840074295
NM_000188.3(HK1):c.2662G>A (p.Val888Met) rs1564575554
NM_000188.3(HK1):c.589G>C (p.Gly197Arg)
NM_000188.3(HK1):c.86T>C (p.Met29Thr) rs1014528063
NM_000208.4(INSR):c.3470A>G (p.His1157Arg) rs957304581
NM_000218.3(KCNQ1):c.526T>C (p.Trp176Arg) rs1554892900
NM_000219.6(KCNE1):c.200G>T (p.Arg67Leu) rs79654911
NM_000238.4(KCNH2):c.1756C>G (p.Leu586Val) rs1801169246
NM_000238.4(KCNH2):c.2033T>G (p.Leu678Arg) rs199472981
NM_000243.3(MEFV):c.1089C>A (p.Ser363Arg)
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1519G>A (p.Ala507Thr)
NM_000243.3(MEFV):c.1531G>A (p.Ala511Thr)
NM_000243.3(MEFV):c.1588-3T>A
NM_000243.3(MEFV):c.585G>C (p.Glu195Asp) rs200766991
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.590G>A (p.Gly197Asp)
NM_000243.3(MEFV):c.74A>C (p.Lys25Thr)
NM_000243.3(MEFV):c.928G>A (p.Ala310Thr)
NM_000249.4(MLH1):c.1309C>G (p.Pro437Ala) rs587782273
NM_000249.4(MLH1):c.652T>A (p.Ser218Thr)
NM_000249.4(MLH1):c.726G>A (p.Met242Ile) rs1559534445
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile) rs201118107
NM_000251.3(MSH2):c.2128G>T (p.Ala710Ser) rs1558519878
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe) rs587781996
NM_000251.3(MSH2):c.2354A>G (p.His785Arg) rs200252727
NM_000251.3(MSH2):c.2558A>G (p.Glu853Gly) rs63750797
NM_000251.3(MSH2):c.2782T>C (p.Ser928Pro) rs587781852
NM_000251.3(MSH2):c.476G>A (p.Arg159Lys) rs786202921
NM_000251.3(MSH2):c.698C>G (p.Ser233Cys) rs587781724
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg) rs1064794704
NM_000251.3(MSH2):c.785A>T (p.Glu262Val) rs1558462101
NM_000251.3(MSH2):c.923G>C (p.Arg308Thr) rs1553352545
NM_000251.3(MSH2):c.956A>G (p.Asp319Gly) rs786204185
NM_000255.4(MMUT):c.446A>T (p.Asp149Val) rs1194327802
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000257.4(MYH7):c.2286+1G>T rs1064796489
NM_000263.4(NAGLU):c.2132G>A (p.Ser711Asn) rs2092930722
NM_000283.4(PDE6B):c.1507G>C (p.Glu503Gln) rs758303497
NM_000288.4(PEX7):c.234C>A (p.Asn78Lys) rs560350898
NM_000297.4(PKD2):c.1796G>A (p.Gly599Asp) rs1560620374
NM_000298.6(PKLR):c.1049T>C (p.Phe350Ser) rs755934816
NM_000298.6(PKLR):c.1116G>A (p.Gln372=) rs2148203939
NM_000298.6(PKLR):c.119G>A (p.Arg40Gln)
NM_000298.6(PKLR):c.1270-11G>A rs1647339680
NM_000298.6(PKLR):c.1270-15T>G rs778487109
NM_000298.6(PKLR):c.1272T>G (p.Ile424Met) rs1647338688
NM_000298.6(PKLR):c.1345C>T (p.Arg449Cys)
NM_000298.6(PKLR):c.1378G>A (p.Val460Met) rs752034960
NM_000298.6(PKLR):c.1388C>T (p.Ala463Val) rs1647321523
NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala) rs1674489086
NM_000298.6(PKLR):c.20T>C (p.Ile7Thr)
NM_000298.6(PKLR):c.247G>A (p.Val83Met)
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp) rs199824528
NM_000298.6(PKLR):c.694+41G>T
NM_000298.6(PKLR):c.762G>C (p.Leu254Phe) rs943436402
NM_000314.8(PTEN):c.-531_-486del rs1564800757
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000314.8(PTEN):c.538T>C (p.Tyr180His) rs746280047
NM_000314.8(PTEN):c.587A>G (p.His196Arg) rs1564837944
NM_000334.4(SCN4A):c.5171G>A (p.Arg1724Lys) rs539487509
NM_000335.5(SCN5A):c.3634T>G (p.Phe1212Val) rs2061468266
NM_000335.5(SCN5A):c.5589G>T (p.Glu1863Asp) rs794728899
NM_000335.5(SCN5A):c.5654A>C (p.Lys1885Thr) rs2125825142
NM_000335.5(SCN5A):c.5742C>A (p.His1914Gln) rs1314879329
NM_000335.5(SCN5A):c.869C>A (p.Thr290Asn) rs1559778505
NM_000337.6(SGCD):c.712G>A (p.Ala238Thr) rs1757448747
NM_000342.4(SLC4A1):c.1042C>G (p.Gln348Glu)
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His) rs2047407019
NM_000342.4(SLC4A1):c.1250T>C (p.Leu417Pro) rs2047405727
NM_000342.4(SLC4A1):c.1361T>G (p.Leu454Arg) rs2144613156
NM_000342.4(SLC4A1):c.1403T>G (p.Leu468Arg) rs2144613014
NM_000342.4(SLC4A1):c.1431G>A (p.Ser477=) rs1176855098
NM_000342.4(SLC4A1):c.1807C>T (p.Arg603Trp)
NM_000342.4(SLC4A1):c.1889A>C (p.Gln630Pro)
NM_000342.4(SLC4A1):c.1890G>T (p.Gln630His) rs2047378030
NM_000342.4(SLC4A1):c.2009C>G (p.Pro670Arg)
NM_000342.4(SLC4A1):c.2111T>C (p.Leu704Pro) rs2047359576
NM_000342.4(SLC4A1):c.2508C>A (p.Phe836Leu) rs2144596543
NM_000342.4(SLC4A1):c.2570T>C (p.Leu857Pro)
NM_000342.4(SLC4A1):c.655A>G (p.Lys219Glu)
NM_000342.4(SLC4A1):c.698G>A (p.Arg233His) rs369164512
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000342.4(SLC4A1):c.890A>G (p.Asp297Gly) rs2047412306
NM_000346.4(SOX9):c.1287C>A (p.Ser429Arg) rs758181921
NM_000350.3(ABCA4):c.2863G>A (p.Glu955Lys) rs765680067
NM_000350.3(ABCA4):c.511A>T (p.Ile171Phe) rs765059735
NM_000350.3(ABCA4):c.6426C>G (p.Ile2142Met) rs1184801813
NM_000355.4(TCN2):c.407A>G (p.Glu136Gly) rs1479587262
NM_000368.5(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000371.4(TTR):c.211G>A (p.Glu71Lys) rs933476040
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000371.4(TTR):c.427A>G (p.Thr143Ala)
NM_000371.4(TTR):c.50T>C (p.Val17Ala) rs1237121765
NM_000371.4(TTR):c.85A>T (p.Lys29Ter)
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.10676T>C (p.Ile3559Thr)
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.11417C>T (p.Ser3806Phe)
NM_000384.3(APOB):c.11822T>C (p.Leu3941Ser)
NM_000384.3(APOB):c.12342G>T (p.Trp4114Cys) rs1045593499
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.13268C>G (p.Ser4423Cys)
NM_000384.3(APOB):c.3190G>T (p.Val1064Phe)
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.877A>G (p.Lys293Glu) rs2103381922
NM_000384.3(APOB):c.8783C>T (p.Ser2928Leu) rs2103353879
NM_000398.7(CYB5R3):c.145G>C (p.Asp49His) rs144467449
NM_000398.7(CYB5R3):c.176G>A (p.Arg59His)
NM_000398.7(CYB5R3):c.334-15G>A
NM_000398.7(CYB5R3):c.548-13G>A rs573516374
NM_000398.7(CYB5R3):c.861C>G (p.Asn287Lys)
NM_000398.7(CYB5R3):c.871_879del (p.Val291_His293del) rs2146859537
NM_000399.5(EGR2):c.1303G>C (p.Val435Leu) rs750183887
NM_000399.5(EGR2):c.166G>A (p.Gly56Arg) rs377204675
NM_000399.5(EGR2):c.854C>G (p.Ala285Gly) rs1181205792
NM_000413.4(HSD17B1):c.875CCGAGGCTGGGG[1] (p.292AEAG[1])
NM_000429.3(MAT1A):c.550-18C>G rs765732735
NM_000431.4(MVK):c.119G>A (p.Arg40Gln) rs373095009
NM_000431.4(MVK):c.413C>T (p.Pro138Leu) rs1885211566
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys) rs2046899820
NM_000435.3(NOTCH3):c.2981del (p.Gly994fs)
NM_000435.3(NOTCH3):c.4475A>C (p.Glu1492Ala) rs2046768843
NM_000435.3(NOTCH3):c.5297T>C (p.Met1766Thr) rs1420105350
NM_000435.3(NOTCH3):c.5704C>T (p.Arg1902Cys)
NM_000435.3(NOTCH3):c.5901G>A (p.Met1967Ile) rs373866355
NM_000435.3(NOTCH3):c.6463G>C (p.Gly2155Arg)
NM_000435.3(NOTCH3):c.6709C>G (p.Arg2237Gly) rs749189648
NM_000440.3(PDE6A):c.1057A>G (p.Asn353Asp) rs1561751067
NM_000451.4(SHOX):c.627C>G (p.Phe209Leu)
NM_000455.5(STK11):c.842C>A (p.Pro281Gln) rs121913322
NM_000463.3(UGT1A1):c.107A>G (p.Asp36Gly)
NM_000463.3(UGT1A1):c.131T>A (p.Leu44His) rs1178608845
NM_000463.3(UGT1A1):c.1388A>T (p.Glu463Val)
NM_000463.3(UGT1A1):c.1525TGT[1] (p.Cys510del) rs771159962
NM_000463.3(UGT1A1):c.510C>A (p.Phe170Leu)
NM_000463.3(UGT1A1):c.706G>C (p.Glu236Gln)
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) rs200903749
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) rs1644512630
NM_000478.6(ALPL):c.469G>A (p.Ala157Thr) rs750842585
NM_000489.6(ATRX):c.6271A>G (p.Thr2091Ala) rs1569525091
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile) rs1800086
NM_000492.4(CFTR):c.1070C>T (p.Ala357Val)
NM_000492.4(CFTR):c.1115A>G (p.Gln372Arg) rs1799033866
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val) rs397508180
NM_000492.4(CFTR):c.1349G>T (p.Arg450Ile)
NM_000492.4(CFTR):c.1522T>C (p.Phe508Leu) rs753920616
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.4(CFTR):c.1715A>G (p.Asp572Gly) rs1792007322
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.4(CFTR):c.1913C>T (p.Pro638Leu) rs1562907846
NM_000492.4(CFTR):c.1934T>C (p.Met645Thr) rs377731410
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu) rs1800076
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser) rs757410423
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.4(CFTR):c.295C>G (p.Pro99Ala) rs1031657153
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn) rs762241850
NM_000492.4(CFTR):c.3423T>G (p.Ser1141Arg) rs748284173
NM_000492.4(CFTR):c.3468+33A>G rs1792459342
NM_000492.4(CFTR):c.3573G>A (p.Met1191Ile) rs1359962349
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys) rs371475225
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
NM_000492.4(CFTR):c.388C>G (p.Leu130Val) rs397508632
NM_000492.4(CFTR):c.4025G>A (p.Gly1342Glu)
NM_000492.4(CFTR):c.4053G>C (p.Lys1351Asn) rs763602969
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4188A>G (p.Thr1396=) rs1322987429
NM_000492.4(CFTR):c.4243-16A>G rs780125251
NM_000492.4(CFTR):c.4243-7del rs878854021
NM_000492.4(CFTR):c.4324A>G (p.Ser1442Gly)
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.4(CFTR):c.554C>A (p.Ser185Tyr) rs1798913314
NM_000492.4(CFTR):c.697C>T (p.Leu233Phe) rs775713428
NM_000492.4(CFTR):c.870-7_870-5del rs759762840
NM_000492.4(CFTR):c.960A>C (p.Leu320Phe) rs56093012
NM_000492.4(CFTR):c.971C>T (p.Pro324Leu) rs397508822
NM_000517.6(HBA2):c.169A>G (p.Lys57Glu) rs281864842
NM_000517.6(HBA2):c.263A>C (p.His88Pro)
NM_000517.6(HBA2):c.294C>A (p.Asn98Lys) rs41338947
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys) rs111033604
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn) rs63750010
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000517.6(HBA2):c.420del (p.Lys140fs) rs63750520
NM_000517.6(HBA2):c.70G>A (p.Glu24Lys) rs281864819
NM_000517.6(HBA2):c.83A>G (p.Glu28Gly) rs281864823
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) rs33995148
NM_000518.4(HBB):c.194G>C (p.Gly65Ala) rs33922018
NM_000518.4(HBB):c.232C>T (p.His78Tyr) rs33991294
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.275T>G (p.Leu92Arg) rs33917785
NM_000518.4(HBB):c.302C>G (p.Pro101Arg) rs33965000
NM_000518.4(HBB):c.67G>A (p.Glu23Lys) rs33959855
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.118C>A (p.Gln40Lys) rs11549407
NM_000518.5(HBB):c.134C>G (p.Ser45Cys) rs34868397
NM_000518.5(HBB):c.144T>A (p.Asp48Glu) rs754454495
NM_000518.5(HBB):c.158A>T (p.Asp53Val) rs33919924
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.174C>A (p.Asn58Lys) rs35278874
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.220G>C (p.Asp74His) rs33945705
NM_000518.5(HBB):c.308A>T (p.Asn103Ile)
NM_000518.5(HBB):c.315+73A>G rs1847548056
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000520.6(HEXA):c.1146+18A>G rs1555472543
NM_000520.6(HEXA):c.1337C>G (p.Pro446Arg) rs939203533
NM_000520.6(HEXA):c.746G>A (p.Arg249Gln) rs1297800753
NM_000527.5(LDLR):c.115T>C (p.Cys39Arg) rs1555802275
NM_000527.5(LDLR):c.1221C>A (p.His407Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000531.5(OTC):c.-106C>A rs749748052
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe) rs1569282905
NM_000531.6(OTC):c.433C>A (p.Gln145Lys) rs753584565
NM_000535.7(PMS2):c.2144A>C (p.His715Pro) rs773913260
NM_000535.7(PMS2):c.398C>T (p.Thr133Ile) rs1064794097
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000535.7(PMS2):c.849T>A (p.Ser283Arg) rs1277038817
NM_000540.3(RYR1):c.4582T>C (p.Phe1528Leu) rs1568476341
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met) rs914804033
NM_000540.3(RYR1):c.9356G>T (p.Arg3119Leu) rs193922833
NM_000545.8(HNF1A):c.311_316dup (p.Glu105_Thr106insMetGlu)
NM_000546.6(TP53):c.478A>G (p.Met160Val) rs377274728
NM_000548.5(TSC2):c.127G>A (p.Glu43Lys) rs2084685904
NM_000548.5(TSC2):c.1787T>C (p.Leu596Pro) rs45517200
NM_000548.5(TSC2):c.2106_2108dup (p.Asp702_Trp703insCys)
NM_000548.5(TSC2):c.2405G>C (p.Ser802Thr) rs1015629239
NM_000548.5(TSC2):c.2558T>C (p.Leu853Pro)
NM_000548.5(TSC2):c.3400G>A (p.Gly1134Ser) rs2089952201
NM_000548.5(TSC2):c.4006-3_4006-2insG
NM_000548.5(TSC2):c.4787G>A (p.Gly1596Asp) rs397515014
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs) rs730882038
NM_000552.5(VWF):c.1048T>C (p.Cys350Arg)
NM_000552.5(VWF):c.2839A>G (p.Met947Val)
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.3103A>G (p.Arg1035Gly)
NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro) rs61749378
NM_000552.5(VWF):c.4037A>G (p.Gln1346Arg)
NM_000552.5(VWF):c.4133C>T (p.Ser1378Phe) rs61750073
NM_000552.5(VWF):c.4151T>C (p.Leu1384Pro) rs2136412999
NM_000552.5(VWF):c.4238C>A (p.Pro1413Gln) rs61750079
NM_000552.5(VWF):c.4381G>A (p.Ala1461Thr) rs1944097477
NM_000552.5(VWF):c.4493A>G (p.Asp1498Gly) rs1565831748
NM_000552.5(VWF):c.4549A>C (p.Ser1517Arg) rs2136412356
NM_000552.5(VWF):c.4735G>A (p.Gly1579Arg) rs61750113
NM_000552.5(VWF):c.5009G>C (p.Cys1670Ser)
NM_000552.5(VWF):c.512A>T (p.Asp171Val)
NM_000552.5(VWF):c.5177G>A (p.Arg1726His) rs147313320
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.8416T>C (p.Cys2806Arg) rs267607372
NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup) rs760180391
NM_000557.5(GDF5):c.262C>G (p.Gln88Glu) rs2062479573
NM_000558.3(HBA1):c.142G>A (p.Asp48Asn) rs34269448
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly) rs33986902
NM_000558.5(HBA1):c.104T>G (p.Leu35Arg) rs35203445
NM_000558.5(HBA1):c.150C>A (p.Ser50Arg) rs1318437795
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.186G>T (p.Lys62Asn) rs281864775
NM_000558.5(HBA1):c.19G>C (p.Asp7His) rs33961916
NM_000558.5(HBA1):c.223GAC[1] (p.Asp76del) rs759750475
NM_000558.5(HBA1):c.256G>C (p.Asp86His) rs33915947
NM_000558.5(HBA1):c.326C>T (p.Thr109Ile)
NM_000558.5(HBA1):c.416C>G (p.Ser139Cys) rs63749989
NM_000619.3(IFNG):c.409A>G (p.Ile137Val) rs750527782
NM_000637.5(GSR):c.989T>C (p.Leu330Pro) rs1563529139
NM_000651.6(CR1):c.6373G>T (p.Val2125Leu) rs202148801
NM_000702.4(ATP1A2):c.350C>T (p.Ala117Val)
NM_000719.7(CACNA1C):c.3946-21_3946-19del
NM_000719.7(CACNA1C):c.5444+623G>A rs750528395
NM_000808.4(GABRA3):c.926T>C (p.Val309Ala) rs1937406658
NM_000834.5(GRIN2B):c.623C>T (p.Ser208Phe)
NM_000867.5(HTR2B):c.463A>G (p.Ile155Val) rs1559236184
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu) rs1562989913
NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr)
NM_000942.5(PPIB):c.626A>G (p.Lys209Arg)
NM_001001415.4(ZNF429):c.952del (p.Cys318fs)
NM_001001991.3(PAMR1):c.1382G>A (p.Arg461His)
NM_001002909.4(GPATCH8):c.50A>G (p.Asn17Ser)
NM_001003800.2(BICD2):c.1063A>T (p.Met355Leu) rs767226677
NM_001003800.2(BICD2):c.527G>A (p.Arg176His) rs1207286970
NM_001003800.2(BICD2):c.754G>A (p.Glu252Lys) rs776953074
NM_001005361.3(DNM2):c.1343C>A (p.Ser448Tyr) rs2072020474
NM_001005361.3(DNM2):c.1558G>C (p.Val520Leu) rs2072577212
NM_001006657.2(WDR35):c.1208T>C (p.Met403Thr)
NM_001006658.3(CR2):c.1187A>G (p.Gln396Arg) rs1658223443
NM_001009944.3(PKD1):c.10165G>A (p.Glu3389Lys) rs756738297
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro) rs1567158067
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.1685A>G (p.Gln562Arg) rs1185676416
NM_001009944.3(PKD1):c.2780CGG[1] (p.Ala928del) rs1596574952
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp) rs1567208088
NM_001009944.3(PKD1):c.2885A>G (p.Asp962Gly) rs1567208045
NM_001009944.3(PKD1):c.3667G>A (p.Val1223Met) rs749092859
NM_001009944.3(PKD1):c.4148T>A (p.Val1383Asp) rs1567201202
NM_001009944.3(PKD1):c.4756G>A (p.Asp1586Asn) rs770968964
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg) rs144091742
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro) rs1567218310
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu) rs1567218284
NM_001009944.3(PKD1):c.6784G>C (p.Gly2262Arg) rs1567191274
NM_001009944.3(PKD1):c.8828C>T (p.Ala2943Val) rs1567175859
NM_001009997.3(C10orf62):c.297G>T (p.Lys99Asn)
NM_001010872.3(FAM83B):c.445-9A>G
NM_001014447.3(CPZ):c.949C>T (p.Gln317Ter) rs146935182
NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[3] (p.Gln67_Gln71dup) rs781355841
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro) rs189345192
NM_001035.3(RYR2):c.1372G>A (p.Asp458Asn) rs1553458124
NM_001035.3(RYR2):c.4636C>T (p.Gln1546Ter)
NM_001035.3(RYR2):c.6506A>G (p.Glu2169Gly) rs1064794183
NM_001035.3(RYR2):c.815G>A (p.Arg272His) rs377368967
NM_001037.5(SCN1B):c.215G>A (p.Arg72His) rs770751961
NM_001040108.2(MLH3):c.3793A>G (p.Ile1265Val)
NM_001040108.2(MLH3):c.602T>G (p.Leu201Arg)
NM_001040151.2(SCN3B):c.568G>A (p.Ala190Thr) rs1955750790
NM_001042492.3(NF1):c.-272G>A rs1911510393
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg) rs1555611004
NM_001042492.3(NF1):c.1633G>C (p.Ala545Pro) rs1567843945
NM_001042492.3(NF1):c.16C>T (p.Pro6Ser) rs1567786812
NM_001042492.3(NF1):c.2113_2121dup (p.Met707_Ser708insValAlaMet)
NM_001042492.3(NF1):c.2992T>A (p.Tyr998Asn)
NM_001042492.3(NF1):c.3180T>G (p.Asp1060Glu) rs1555614646
NM_001042492.3(NF1):c.3254T>G (p.Leu1085Arg) rs1555614849
NM_001042492.3(NF1):c.3644T>A (p.Met1215Lys)
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His) rs1555618518
NM_001042492.3(NF1):c.454G>A (p.Ala152Thr) rs2065795636
NM_001042492.3(NF1):c.4819TAT[1] (p.Tyr1608del)
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr) rs1567820765
NM_001042492.3(NF1):c.5755G>A (p.Glu1919Lys) rs1227869359
NM_001042492.3(NF1):c.6029T>A (p.Val2010Glu) rs2151553215
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly) rs1555534886
NM_001042492.3(NF1):c.7334T>G (p.Val2445Gly) rs1567623931
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro) rs1567826623
NM_001042492.3(NF1):c.8114-3C>G
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr) rs1417994243
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_001046.3(SLC12A2):c.672C>G (p.Ile224Met)
NM_001048174.2(MUTYH):c.461G>C (p.Arg154Pro) rs143353451
NM_001065.4(TNFRSF1A):c.1246G>A (p.Ala416Thr)
NM_001072.4(UGT1A6):c.159del (p.His54fs) rs1559345986
NM_001072.4(UGT1A6):c.557C>T (p.Pro186Leu) rs751053554
NM_001072.4(UGT1A6):c.861+35946G>C rs1234900374
NM_001077263.3(TMPRSS13):c.1274C>A (p.Thr425Asn) rs757925255
NM_001077263.3(TMPRSS13):c.1403G>A (p.Arg468Gln) rs200481694
NM_001079802.2(FKTN):c.326A>T (p.Asp109Val) rs2132708033
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del) rs777131279
NM_001083899.2(GP6):c.505A>G (p.Thr169Ala) rs777476310
NM_001099857.5(IKBKG):c.440C>T (p.Thr147Met) rs1569556582
NM_001101421.4(MYO1H):c.1064_1065del (p.Ser355fs) rs779383474
NM_001103.4(ACTN2):c.1771A>G (p.Ile591Val) rs377650301
NM_001105556.3(THEMIS2):c.980G>A (p.Arg327Gln)
NM_001109754.4(PTPRB):c.5216T>C (p.Ile1739Thr) rs2136300079
NM_001110556.2(FLNA):c.2092G>T (p.Asp698Tyr) rs2067738279
NM_001110556.2(FLNA):c.2614G>T (p.Ala872Ser)
NM_001110556.2(FLNA):c.2788G>A (p.Asp930Asn)
NM_001110556.2(FLNA):c.3223C>T (p.Pro1075Ser) rs1336237133
NM_001110556.2(FLNA):c.373+811C>T
NM_001110556.2(FLNA):c.4243A>G (p.Ile1415Val) rs2067686132
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) rs1569551874
NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup) rs781960834
NM_001110556.2(FLNA):c.677G>A (p.Arg226Gln) rs2067772868
NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr) rs1060500721
NM_001110556.2(FLNA):c.7900G>A (p.Asp2634Asn)
NM_001110556.2(FLNA):c.830C>T (p.Pro277Leu) rs1557179540
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr) rs1057520310
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001114753.3(ENG):c.-79C>T rs1564466502
NM_001114753.3(ENG):c.1089T>G (p.Cys363Trp) rs777177134
NM_001114753.3(ENG):c.788T>A (p.Ile263Asn) rs1085307431
NM_001122955.4(BSCL2):c.547G>A (p.Val183Met)
NM_001130021.3(ATP6V0A1):c.2112+16G>A
NM_001130823.3(DNMT1):c.950A>G (p.Glu317Gly) rs1478185698
NM_001142864.4(PIEZO1):c.1187G>A (p.Arg396Gln)
NM_001142864.4(PIEZO1):c.120_125dup (p.Leu41_Pro42dup) rs1906266156
NM_001142864.4(PIEZO1):c.1543G>A (p.Asp515Asn) rs1041637926
NM_001142864.4(PIEZO1):c.1819C>T (p.Leu607Phe)
NM_001142864.4(PIEZO1):c.1877T>C (p.Leu626Pro)
NM_001142864.4(PIEZO1):c.2152G>A (p.Gly718Ser)
NM_001142864.4(PIEZO1):c.2156C>T (p.Thr719Met)
NM_001142864.4(PIEZO1):c.2164C>A (p.Pro722Thr) rs1222441148
NM_001142864.4(PIEZO1):c.2415C>A (p.Phe805Leu)
NM_001142864.4(PIEZO1):c.2722C>T (p.Arg908Trp)
NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met) rs554899632
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp) rs765257824
NM_001142864.4(PIEZO1):c.2875G>A (p.Ala959Thr) rs770222800
NM_001142864.4(PIEZO1):c.2911A>G (p.Thr971Ala)
NM_001142864.4(PIEZO1):c.3016G>A (p.Val1006Met)
NM_001142864.4(PIEZO1):c.3433G>A (p.Val1145Met)
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln)
NM_001142864.4(PIEZO1):c.3625C>T (p.Arg1209Trp)
NM_001142864.4(PIEZO1):c.3783G>C (p.Lys1261Asn)
NM_001142864.4(PIEZO1):c.3796C>A (p.Pro1266Thr)
NM_001142864.4(PIEZO1):c.3983A>C (p.Tyr1328Ser)
NM_001142864.4(PIEZO1):c.4180G>A (p.Gly1394Ser)
NM_001142864.4(PIEZO1):c.4556A>C (p.Gln1519Pro)
NM_001142864.4(PIEZO1):c.5054C>T (p.Ala1685Val) rs1008288721
NM_001142864.4(PIEZO1):c.5098A>G (p.Met1700Val)
NM_001142864.4(PIEZO1):c.5134G>C (p.Val1712Leu) rs760732001
NM_001142864.4(PIEZO1):c.5243A>C (p.Gln1748Pro) rs1597445087
NM_001142864.4(PIEZO1):c.5290G>C (p.Glu1764Gln) rs749976222
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys)
NM_001142864.4(PIEZO1):c.5464G>C (p.Glu1822Gln) rs762151744
NM_001142864.4(PIEZO1):c.5482G>A (p.Glu1828Lys)
NM_001142864.4(PIEZO1):c.5507C>A (p.Ala1836Asp) rs2142764441
NM_001142864.4(PIEZO1):c.557C>G (p.Ala186Gly)
NM_001142864.4(PIEZO1):c.5833TTC[1] (p.Phe1946del) rs1912355263
NM_001142864.4(PIEZO1):c.5846T>G (p.Ile1949Ser)
NM_001142864.4(PIEZO1):c.6007G>A (p.Ala2003Thr) rs1912332137
NM_001142864.4(PIEZO1):c.6107C>T (p.Ala2036Val)
NM_001142864.4(PIEZO1):c.6250G>A (p.Gly2084Ser)
NM_001142864.4(PIEZO1):c.6342C>G (p.Phe2114Leu)
NM_001142864.4(PIEZO1):c.6353T>A (p.Leu2118Gln)
NM_001142864.4(PIEZO1):c.6782G>C (p.Ser2261Thr) rs1912065147
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile) rs546338962
NM_001142864.4(PIEZO1):c.6803C>T (p.Ala2268Val)
NM_001142864.4(PIEZO1):c.6926+5G>A
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
NM_001142864.4(PIEZO1):c.7151G>C (p.Gly2384Ala)
NM_001142864.4(PIEZO1):c.7366C>A (p.Arg2456Ser)
NM_001142864.4(PIEZO1):c.7431C>G (p.Ile2477Met) rs772748505
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463
NM_001142864.4(PIEZO1):c.7522C>A (p.Arg2508Ser)
NM_001142864.4(PIEZO1):c.910_912del (p.Leu304del) rs753619127
NM_001142864.4(PIEZO1):c.920G>A (p.Gly307Asp)
NM_001145809.2(MYH14):c.6074C>T (p.Pro2025Leu) rs772690371
NM_001148.6(ANK2):c.11774A>C (p.Gln3925Pro) rs2154074804
NM_001148.6(ANK2):c.1898T>C (p.Leu633Ser)
NM_001155.5(ANXA6):c.1912C>T (p.Arg638Trp)
NM_001166114.2(PNPLA6):c.124C>T (p.Pro42Ser) rs2022842151
NM_001178015.2(SLC4A10):c.658C>T (p.Gln220Ter)
NM_001184.4(ATR):c.2009G>A (p.Ser670Asn)
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) rs1388811021
NM_001199397.3(NEK1):c.2161C>G (p.Arg721Gly) rs201726561
NM_001199397.3(NEK1):c.2584A>G (p.Ser862Gly)
NM_001199397.3(NEK1):c.3422T>C (p.Met1141Thr) rs906114639
NM_001204.7(BMPR2):c.1379C>G (p.Pro460Arg) rs1574500050
NM_001204.7(BMPR2):c.1535A>G (p.Lys512Arg) rs1085307364
NM_001204.7(BMPR2):c.1981G>C (p.Glu661Gln)
NM_001204.7(BMPR2):c.199T>C (p.Tyr67His) rs1559046623
NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg) rs1574486033
NM_001235.5(SERPINH1):c.658G>A (p.Asp220Asn) rs1942139677
NM_001243133.2(NLRP3):c.1535G>A (p.Cys512Tyr)
NM_001243133.2(NLRP3):c.424G>A (p.Val142Met)
NM_001243133.2(NLRP3):c.578C>T (p.Thr193Met) rs76291085
NM_001256012.3(MYH10):c.5872C>T (p.Arg1958Trp) rs763121137
NM_001256732.3(SSBP2):c.971G>C (p.Ser324Thr) rs1762742193
NM_001267550.2(TTN):c.10391A>C (p.Lys3464Thr) rs1553970272
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val) rs555476312
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) rs201744218
NM_001267550.2(TTN):c.15121A>G (p.Ile5041Val)
NM_001267550.2(TTN):c.19663G>T (p.Val6555Leu) rs753901455
NM_001267550.2(TTN):c.19667C>T (p.Ser6556Leu) rs2154306280
NM_001267550.2(TTN):c.20402T>A (p.Leu6801His)
NM_001267550.2(TTN):c.21017G>A (p.Arg7006Lys)
NM_001267550.2(TTN):c.23147G>A (p.Gly7716Asp)
NM_001267550.2(TTN):c.23675T>G (p.Ile7892Arg)
NM_001267550.2(TTN):c.31486C>G (p.His10496Asp) rs1553860465
NM_001267550.2(TTN):c.32136T>G (p.Phe10712Leu) rs1560398106
NM_001267550.2(TTN):c.32191C>A (p.His10731Asn)
NM_001267550.2(TTN):c.32335G>T (p.Val10779Phe)
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg) rs199868380
NM_001267550.2(TTN):c.38884G>T (p.Ala12962Ser)
NM_001267550.2(TTN):c.39056C>A (p.Pro13019Gln) rs763845436
NM_001267550.2(TTN):c.39834del (p.Lys13279fs) rs886044415
NM_001267550.2(TTN):c.42950G>A (p.Arg14317Gln) rs727505144
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu) rs769784536
NM_001267550.2(TTN):c.51018T>A (p.Asp17006Glu) rs1163818093
NM_001267550.2(TTN):c.52425T>G (p.Asp17475Glu)
NM_001267550.2(TTN):c.54283A>T (p.Ser18095Cys) rs371747177
NM_001267550.2(TTN):c.5884C>A (p.Gln1962Lys)
NM_001267550.2(TTN):c.59225A>G (p.Tyr19742Cys) rs1559607092
NM_001267550.2(TTN):c.59811C>A (p.Phe19937Leu) rs781544233
NM_001267550.2(TTN):c.59916G>C (p.Leu19972Phe) rs1553645773
NM_001267550.2(TTN):c.60205T>C (p.Cys20069Arg)
NM_001267550.2(TTN):c.65010A>T (p.Lys21670Asn) rs878892116
NM_001267550.2(TTN):c.65074A>G (p.Ile21692Val)
NM_001267550.2(TTN):c.66318C>G (p.Asn22106Lys) rs771219209
NM_001267550.2(TTN):c.69220T>A (p.Ser23074Thr) rs2154173545
NM_001267550.2(TTN):c.74372C>T (p.Thr24791Ile) rs1055906361
NM_001267550.2(TTN):c.79273A>G (p.Lys26425Glu) rs1706063163
NM_001267550.2(TTN):c.80273T>C (p.Met26758Thr)
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82895C>T (p.Thr27632Ile) rs1229009880
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.85876T>C (p.Tyr28626His) rs1477861188
NM_001267550.2(TTN):c.86229G>C (p.Gln28743His)
NM_001267550.2(TTN):c.94505T>A (p.Met31502Lys)
NM_001267550.2(TTN):c.95357A>G (p.Asn31786Ser) rs1696865626
NM_001267550.2(TTN):c.97739G>A (p.Arg32580Lys) rs1427710348
NM_001276345.2(TNNT2):c.333G>C (p.Glu111Asp) rs1659441464
NM_001282290.2(ARHGAP27):c.2233C>G (p.Arg745Gly) rs766669825
NM_001282426.2(PIK3CG):c.1307G>A (p.Gly436Asp) rs1790423394
NM_001282857.2(XRN1):c.4277T>C (p.Met1426Thr) rs2107909544
NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro) rs1987287426
NM_001291303.3(FAT4):c.10247G>C (p.Ser3416Thr)
NM_001291303.3(FAT4):c.4195C>A (p.Pro1399Thr) rs1486226093
NM_001301043.2(CADM1):c.323A>C (p.Lys108Thr)
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu) rs1602482166
NM_001303441.2(HEXIM2):c.80C>G (p.Pro27Arg) rs773017611
NM_001304548.2(CFAP47):c.4694A>T (p.Asp1565Val) rs1022592716
NM_001315532.2(PVALB):c.67G>A (p.Asp23Asn) rs748683112
NM_001321120.2(TBX4):c.1213G>A (p.Val405Met)
NM_001330078.2(NRXN1):c.4265A>C (p.Glu1422Ala)
NM_001330640.2(DENND4C):c.5160+1G>A
NM_001355436.2(SPTB):c.1342-7G>A rs2082754554
NM_001355436.2(SPTB):c.155G>A (p.Arg52Gln) rs1452760098
NM_001355436.2(SPTB):c.1603C>A (p.Gln535Lys)
NM_001355436.2(SPTB):c.1832G>A (p.Arg611His)
NM_001355436.2(SPTB):c.2059C>T (p.Arg687Cys)
NM_001355436.2(SPTB):c.2165C>T (p.Ser722Leu)
NM_001355436.2(SPTB):c.2472G>C (p.Gln824His)
NM_001355436.2(SPTB):c.3649A>G (p.Met1217Val)
NM_001355436.2(SPTB):c.3836T>A (p.Phe1279Tyr)
NM_001355436.2(SPTB):c.413T>C (p.Ile138Thr) rs2082930394
NM_001355436.2(SPTB):c.443G>A (p.Gly148Asp) rs2082929857
NM_001355436.2(SPTB):c.443G>T (p.Gly148Val)
NM_001355436.2(SPTB):c.475-3C>G rs1373470306
NM_001355436.2(SPTB):c.4934G>A (p.Ser1645Asn)
NM_001355436.2(SPTB):c.5185C>G (p.Arg1729Gly) rs753928257
NM_001355436.2(SPTB):c.5275G>A (p.Asp1759Asn)
NM_001355436.2(SPTB):c.5506C>T (p.Arg1836Trp)
NM_001355436.2(SPTB):c.5708C>T (p.Ala1903Val)
NM_001355436.2(SPTB):c.5799-3C>A rs757579872
NM_001355436.2(SPTB):c.6379C>A (p.Gln2127Lys)
NM_001355436.2(SPTB):c.6724_6726dup (p.Ile2242_Cys2243insIle)
NM_001355436.2(SPTB):c.909G>A (p.Met303Ile)
NM_001360016.2(G6PD):c.1013C>T (p.Ala338Val) rs2148329260
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del) rs137852338
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys) rs1557229652
NM_001360016.2(G6PD):c.628A>G (p.Asn210Asp) rs2148330535
NM_001360016.2(G6PD):c.686A>T (p.Asn229Ile)
NM_001360016.2(G6PD):c.833CCA[1] (p.Thr279del)
NM_001365088.1(SLC12A6):c.1159A>G (p.Ile387Val) rs781345440
NM_001365536.1(SCN9A):c.3599T>A (p.Leu1200His) rs1342493346
NM_001365951.3(KIF1B):c.2115+7148C>T
NM_001365951.3(KIF1B):c.4508A>T (p.His1503Leu) rs1224742258
NM_001366145.2(TRPM3):c.2030A>G (p.Lys677Arg) rs2133197034
NM_001366418.1(SETDB1):c.1832G>A (p.Arg611Gln)
NM_001367479.1(DNAH14):c.767+2T>C
NM_001367721.1(CASK):c.1936A>G (p.Ile646Val) rs1555980007
NM_001369775.2(KLK14):c.40+2T>C
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln) rs104894268
NM_001370259.2(MEN1):c.830C>T (p.Pro277Leu) rs1060499973
NM_001370466.1(NOD2):c.-8-2A>T
NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu) rs777949388
NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs) rs745991254
NM_001370466.1(NOD2):c.193G>T (p.Val65Phe) rs187264529
NM_001370466.1(NOD2):c.2567T>C (p.Ile856Thr)
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) rs2066845
NM_001370466.1(NOD2):c.2702G>A (p.Ser901Asn) rs772064514
NM_001370466.1(NOD2):c.2831G>A (p.Gly944Asp) rs1187029221
NM_001370466.1(NOD2):c.380A>C (p.Asp127Ala)
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001374838.1(FOXL3):c.397G>A (p.Gly133Ser) rs2115225775
NM_001375524.1(TRRAP):c.10511C>T (p.Thr3504Met)
NM_001375524.1(TRRAP):c.5273C>T (p.Ala1758Val)
NM_001375808.2(LPIN2):c.1046C>G (p.Pro349Arg) rs778825863
NM_001375808.2(LPIN2):c.1868C>T (p.Pro623Leu) rs941401458
NM_001376.5(DYNC1H1):c.1573C>T (p.Leu525Phe)
NM_001376.5(DYNC1H1):c.4624A>G (p.Arg1542Gly) rs1567006939
NM_001376.5(DYNC1H1):c.7270C>G (p.Gln2424Glu) rs1283596757
NM_001376013.1(EPB41):c.1222G>A (p.Gly408Arg) rs371379818
NM_001376571.1(MADD):c.1222A>C (p.Thr408Pro)
NM_001377.3(DYNC2H1):c.10157T>C (p.Ile3386Thr) rs542490708
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly) rs864622357
NM_001377229.1(DISP1):c.2719A>G (p.Ser907Gly) rs934670686
NM_001377303.1(L3MBTL1):c.2222C>T (p.Ser741Leu)
NM_001378457.1(DMXL2):c.3170_3172del (p.Glu1057del)
NM_001379610.1(SPINK1):c.128A>G (p.Tyr43Cys) rs1561605311
NM_001382430.1(AKT1):c.176-5C>A rs377076374
NM_001384140.1(PCDH15):c.1442T>C (p.Ile481Thr) rs1564625358
NM_001384140.1(PCDH15):c.4367T>C (p.Ile1456Thr) rs2076749331
NM_001393719.1(ATF7IP2):c.1812G>C (p.Lys604Asn) rs763494002
NM_001394198.1(ZNF746):c.1720C>G (p.Arg574Gly)
NM_001395413.1(POR):c.115A>G (p.Thr39Ala) rs1787574873
NM_001395413.1(POR):c.1405G>C (p.Val469Leu) rs72557946
NM_001395413.1(POR):c.349T>C (p.Tyr117His) rs1554557326
NM_001429.4(EP300):c.3355GAT[1] (p.Asp1120del)
NM_001429.4(EP300):c.6536T>C (p.Phe2179Ser)
NM_001457.4(FLNB):c.1748-6C>G rs2097260334
NM_001458.5(FLNC):c.2050G>C (p.Val684Leu) rs769221710
NM_001498.4(GCLC):c.1111G>A (p.Val371Ile)
NM_001498.4(GCLC):c.1523C>T (p.Thr508Met)
NM_001498.4(GCLC):c.1787A>C (p.Glu596Ala) rs1327906483
NM_001498.4(GCLC):c.26C>G (p.Pro9Arg) rs1427252491
NM_001605.3(AARS1):c.2166C>A (p.Phe722Leu) rs115882953
NM_001605.3(AARS1):c.2177+5G>A rs2152153454
NM_001605.3(AARS1):c.2870C>G (p.Ser957Cys) rs146540551
NM_001613.4(ACTA2):c.170G>T (p.Gly57Val) rs1564647168
NM_001613.4(ACTA2):c.569A>C (p.Tyr190Ser) rs1564644429
NM_001614.5(ACTG1):c.259C>T (p.His87Tyr) rs1568062594
NM_001711.6(BGN):c.572G>A (p.Gly191Asp)
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val) rs1939615464
NM_001844.5(COL2A1):c.1423C>T (p.Pro475Ser)
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His) rs142168567
NM_001848.3(COL6A1):c.165C>G (p.Tyr55Ter) rs762839635
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro) rs141036911
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.488+6T>C
NM_001876.4(CPT1A):c.1077G>A (p.Met359Ile) rs1432015707
NM_001910.4(CTSE):c.1027G>C (p.Asp343His)
NM_001927.4(DES):c.365A>G (p.Tyr122Cys) rs1400593451
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001927.4(DES):c.709G>A (p.Ala237Thr) rs397516697
NM_001939.3(DRP2):c.2422T>G (p.Trp808Gly) rs745872373
NM_001943.5(DSG2):c.3233G>C (p.Gly1078Ala) rs1064795829
NM_001943.5(DSG2):c.424C>A (p.Pro142Thr) rs1005230453
NM_001972.4(ELANE):c.293T>G (p.Val98Gly)
NM_001972.4(ELANE):c.403G>A (p.Val135Met) rs774457980
NM_001972.4(ELANE):c.533C>A (p.Thr178Lys) rs747053501
NM_001972.4(ELANE):c.558C>A (p.Val186=) rs878855317
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg) rs759733025
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln) rs747084358
NM_001999.4(FBN2):c.2996G>A (p.Arg999His) rs1342942240
NM_001999.4(FBN2):c.3236C>T (p.Ala1079Val) rs1561781258
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=) rs773597432
NM_001999.4(FBN2):c.6173A>G (p.Asn2058Ser)
NM_001999.4(FBN2):c.6868A>C (p.Lys2290Gln) rs2126817406
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.879C>G (p.Ile293Met) rs1180679857
NM_002047.4(GARS1):c.1780C>T (p.His594Tyr)
NM_002109.6(HARS1):c.743A>G (p.Glu248Gly) rs1261330102
NM_002148.4(HOXD10):c.586C>A (p.Gln196Lys)
NM_002180.3(IGHMBP2):c.2440C>A (p.Gln814Lys) rs1566447207
NM_002180.3(IGHMBP2):c.920A>G (p.Asn307Ser) rs1470463698
NM_002230.4(JUP):c.1113C>A (p.Asn371Lys) rs782009178
NM_002296.4(LBR):c.113C>T (p.Thr38Ile) rs555819295
NM_002335.4(LRP5):c.3322ACC[1] (p.Thr1109del)
NM_002335.4(LRP5):c.4636G>A (p.Asp1546Asn)
NM_002439.5(MSH3):c.1963A>G (p.Ile655Val)
NM_002439.5(MSH3):c.475A>G (p.Arg159Gly) rs1749543623
NM_002454.3(MTRR):c.607G>T (p.Asp203Tyr) rs1561185945
NM_002471.4(MYH6):c.4360-7C>G rs58949384
NM_002471.4(MYH6):c.736-9C>A rs748594445
NM_002474.3(MYH11):c.2057G>C (p.Arg686Thr) rs1567726588
NM_002474.3(MYH11):c.3805A>G (p.Ser1269Gly) rs200012419
NM_002474.3(MYH11):c.3839A>G (p.Asp1280Gly)
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr) rs794728676
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg) rs760908992
NM_002485.5(NBN):c.1979G>A (p.Arg660Lys) rs201781110
NM_002485.5(NBN):c.607C>A (p.Pro203Thr) rs1554564291
NM_002500.5(NEUROD1):c.616C>A (p.His206Asn) rs201174472
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu) rs564528921
NM_002661.5(PLCG2):c.3571-3C>G
NM_002691.4(POLD1):c.1215C>G (p.Tyr405Ter) rs1555790585
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002693.3(POLG):c.3155G>A (p.Gly1052Asp) rs769328030
NM_002755.4(MAP2K1):c.95C>T (p.Ala32Val)
NM_002778.4(PSAP):c.707G>T (p.Gly236Val)
NM_002815.4(PSMD11):c.592A>G (p.Asn198Asp)
NM_002834.5(PTPN11):c.1402A>G (p.Thr468Ala) rs397507537
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
NM_002838.5(PTPRC):c.3465A>C (p.Glu1155Asp) rs1558041011
NM_002838.5(PTPRC):c.566T>A (p.Ile189Asn) rs201715157
NM_002880.4(RAF1):c.1897G>A (p.Asp633Asn) rs1352545039
NM_002881.3(RALB):c.7G>A (p.Ala3Thr) rs1689908101
NM_002890.3(RASA1):c.1934+4A>G rs2112485058
NM_002907.4(RECQL):c.1667_1667+3del rs564485792
NM_002972.4(SBF1):c.4462C>T (p.His1488Tyr) rs1569510303
NM_003002.4(SDHD):c.281C>T (p.Ser94Phe) rs199754684
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003040.4(SLC4A2):c.3632G>A (p.Arg1211Gln)
NM_003060.4(SLC22A5):c.1234A>C (p.Ser412Arg) rs1057518364
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635
NM_003073.5(SMARCB1):c.90C>T (p.Ser30=) rs761868468
NM_003126.4(SPTA1):c.1053C>G (p.Ser351Arg) rs766046816
NM_003126.4(SPTA1):c.1088A>G (p.Tyr363Cys)
NM_003126.4(SPTA1):c.131A>G (p.Glu44Gly)
NM_003126.4(SPTA1):c.1350+4A>C
NM_003126.4(SPTA1):c.1552C>T (p.His518Tyr)
NM_003126.4(SPTA1):c.1598T>C (p.Ile533Thr)
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) rs200829664
NM_003126.4(SPTA1):c.1957T>C (p.Tyr653His)
NM_003126.4(SPTA1):c.2134T>G (p.Ser712Ala)
NM_003126.4(SPTA1):c.216A>G (p.Lys72=) rs1655075582
NM_003126.4(SPTA1):c.25G>C (p.Val9Leu) rs111321033
NM_003126.4(SPTA1):c.3134G>A (p.Arg1045Gln)
NM_003126.4(SPTA1):c.376C>T (p.His126Tyr)
NM_003126.4(SPTA1):c.3800T>G (p.Leu1267Arg) rs1469105508
NM_003126.4(SPTA1):c.3896G>A (p.Arg1299Lys)
NM_003126.4(SPTA1):c.390+4T>C
NM_003126.4(SPTA1):c.3909C>A (p.Asn1303Lys) rs1651939630
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
NM_003126.4(SPTA1):c.4174G>C (p.Asp1392His)
NM_003126.4(SPTA1):c.438G>C (p.Leu146=) rs1280197961
NM_003126.4(SPTA1):c.459_460insATGCTGCGGGCCCTGCTGTTAGAGCTGACCCTGGAGAAGGGTGACCAG (p.Gln153_Leu154insMetLeuArgAlaLeuLeuLeuGluLeuThrLeuGluLysGlyAspGln) rs2101946108
NM_003126.4(SPTA1):c.5020C>T (p.Leu1674Phe)
NM_003126.4(SPTA1):c.5834C>T (p.Ala1945Val)
NM_003126.4(SPTA1):c.6120G>A (p.Lys2040=) rs1650012277
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)
NM_003126.4(SPTA1):c.6714G>T (p.Leu2238Phe) rs1649486162
NM_003126.4(SPTA1):c.7072G>A (p.Glu2358Lys) rs1557917325
NM_003126.4(SPTA1):c.7094_7095delinsAG (p.Ala2365Glu) rs2101744936
NM_003126.4(SPTA1):c.790G>C (p.Ala264Pro)
NM_003126.4(SPTA1):c.883G>A (p.Asp295Asn) rs1654495744
NM_003126.4(SPTA1):c.957G>A (p.Lys319=) rs752690778
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu) rs1248127840
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu) rs1594792447
NM_003239.5(TGFB3):c.227C>T (p.Thr76Ile) rs2140254321
NM_003242.6(TGFBR2):c.1270T>C (p.Tyr424His) rs1559467821
NM_003244.4(TGIF1):c.125T>A (p.Leu42Gln) rs1568053676
NM_003246.4(THBS1):c.542T>C (p.Val181Ala)
NM_003259.4(ICAM5):c.2198C>T (p.Thr733Met) rs150873217
NM_003274.5(TRAPPC10):c.3670C>T (p.Pro1224Ser) rs2039104204
NM_003322.6(TULP1):c.915G>A (p.Val305=) rs1040415272
NM_003364.4(UPP1):c.641A>T (p.Tyr214Phe) rs146983910
NM_003482.4(KMT2D):c.11738AGC[6] (p.Gln3919del) rs576788910
NM_003482.4(KMT2D):c.12463C>A (p.Pro4155Thr)
NM_003482.4(KMT2D):c.14732C>T (p.Pro4911Leu) rs183347186
NM_003632.3(CNTNAP1):c.980T>A (p.Val327Glu)
NM_003640.5(ELP1):c.2408G>A (p.Ser803Asn) rs1445493033
NM_003737.4(DCHS1):c.9506G>A (p.Trp3169Ter) rs1855704818
NM_003753.4(EIF3D):c.1077-1G>C
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg) rs587778606
NM_003978.5(PSTPIP1):c.1124C>T (p.Pro375Leu) rs1338203882
NM_003978.5(PSTPIP1):c.247C>A (p.Gln83Lys) rs377719165
NM_004006.3(DMD):c.10010G>T (p.Cys3337Phe) rs2041037870
NM_004006.3(DMD):c.10258T>C (p.Ser3420Pro) rs1569418231
NM_004006.3(DMD):c.10843_10845del (p.Ser3615del) rs751391426
NM_004006.3(DMD):c.10880T>A (p.Met3627Lys)
NM_004006.3(DMD):c.2176G>T (p.Val726Phe) rs886044365
NM_004006.3(DMD):c.4321C>A (p.Leu1441Met) rs2097990662
NM_004006.3(DMD):c.4519-10T>G rs2097958853
NM_004006.3(DMD):c.8656C>G (p.Gln2886Glu)
NM_004006.3(DMD):c.891G>T (p.Lys297Asn) rs1569467457
NM_004071.4(CLK1):c.379C>T (p.Arg127Cys) rs2105741354
NM_004100.5(EYA4):c.1426G>T (p.Asp476Tyr) rs1562505886
NM_004100.5(EYA4):c.529G>T (p.Val177Phe)
NM_004130.4(GYG1):c.674A>G (p.Asp225Gly)
NM_004239.4(TRIP11):c.2125A>G (p.Thr709Ala)
NM_004239.4(TRIP11):c.3817A>C (p.Ser1273Arg) rs2140116644
NM_004239.4(TRIP11):c.5068A>G (p.Met1690Val) rs542557164
NM_004314.3(ART1):c.655T>G (p.Phe219Val)
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004329.3(BMPR1A):c.785T>C (p.Val262Ala) rs770830310
NM_004360.5(CDH1):c.1202C>T (p.Ala401Val) rs150795245
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile) rs2149363695
NM_004415.4(DSP):c.1473C>T (p.Ser491=) rs1561688471
NM_004415.4(DSP):c.620G>C (p.Trp207Ser) rs1445705079
NM_004415.4(DSP):c.6419G>A (p.Ser2140Asn) rs2113700320
NM_004444.5(EPHB4):c.2102T>C (p.Leu701Pro) rs1812966939
NM_004444.5(EPHB4):c.2356T>C (p.Trp786Arg) rs906578426
NM_004444.5(EPHB4):c.2635C>T (p.Arg879Trp) rs2116413763
NM_004444.5(EPHB4):c.29C>A (p.Ala10Asp) rs1429727921
NM_004444.5(EPHB4):c.755G>A (p.Gly252Asp)
NM_004444.5(EPHB4):c.96G>T (p.Trp32Cys) rs1813316337
NM_004612.4(TGFBR1):c.11C>T (p.Ala4Val) rs1331965992
NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp) rs1171355842
NM_004612.4(TGFBR1):c.470G>A (p.Arg157Gln) rs147146713
NM_004612.4(TGFBR1):c.52GCG[12] (p.Ala24_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.589G>T (p.Val197Phe)
NM_004612.4(TGFBR1):c.935G>T (p.Gly312Val) rs869025535
NM_004655.4(AXIN2):c.-12_8del (p.Met1fs) rs768265778
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup) rs570443161
NM_004655.4(AXIN2):c.1952C>G (p.Ser651Trp) rs74006838
NM_004990.4(MARS1):c.1968-1G>A
NM_004990.4(MARS1):c.664G>A (p.Glu222Lys)
NM_005188.4(CBL):c.2606A>G (p.Tyr869Cys)
NM_005219.5(DIAPH1):c.644A>G (p.His215Arg) rs1064795909
NM_005251.3(FOXC2):c.889GTG[3] (p.Val298dup) rs758855849
NM_005343.4(HRAS):c.214A>C (p.Met72Leu) rs1564789500
NM_005359.6(SMAD4):c.553C>T (p.Pro185Ser) rs2144418704
NM_005391.5(PDK3):c.1079C>T (p.Ala360Val) rs1569228203
NM_005392.4(PHF2):c.2857_2858del (p.Lys953fs) rs1252501615
NM_005393.3(PLXNB3):c.2507G>A (p.Ser836Asn)
NM_005475.3(SH2B3):c.1651C>T (p.Arg551Trp)
NM_005475.3(SH2B3):c.662G>T (p.Arg221Met)
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met) rs150666616
NM_005529.7(HSPG2):c.11982G>T (p.Glu3994Asp)
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu) rs143015575
NM_005529.7(HSPG2):c.12994G>T (p.Val4332Phe) rs1138469
NM_005529.7(HSPG2):c.13094G>A (p.Arg4365Gln) rs373773624
NM_005529.7(HSPG2):c.4184T>C (p.Phe1395Ser) rs868076162
NM_005529.7(HSPG2):c.4980C>A (p.Asn1660Lys) rs1327410425
NM_005529.7(HSPG2):c.5483G>T (p.Arg1828Leu) rs745892835
NM_005529.7(HSPG2):c.5878G>C (p.Val1960Leu) rs543536558
NM_005529.7(HSPG2):c.6110G>T (p.Arg2037Leu) rs760003870
NM_005548.3(KARS1):c.1078+7C>T rs2151802184
NM_005751.5(AKAP9):c.8631T>G (p.Cys2877Trp) rs1563113459
NM_005789.4(PSME3):c.406-2A>G rs2055494187
NM_005883.3(APC2):c.966C>G (p.His322Gln)
NM_005938.4(FOXO4):c.385G>T (p.Glu129Ter) rs749130867
NM_006005.3(WFS1):c.1558C>G (p.Gln520Glu) rs377544135
NM_006005.3(WFS1):c.2207G>A (p.Gly736Asp) rs71530912
NM_006070.6(TFG):c.566A>G (p.Asp189Gly) rs749073068
NM_006158.5(NEFL):c.1502A>G (p.Glu501Gly) rs1802990111
NM_006158.5(NEFL):c.781A>G (p.Ile261Val) rs746088359
NM_006182.4(DDR2):c.85A>C (p.Ile29Leu) rs775988877
NM_006206.6(PDGFRA):c.1495G>T (p.Val499Leu) rs746574289
NM_006206.6(PDGFRA):c.1848C>G (p.Ser616Arg) rs780111998
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.467C>G (p.Ser156Cys) rs1565979877
NM_006231.4(POLE):c.5176T>A (p.Cys1726Ser) rs1593728320
NM_006231.4(POLE):c.749G>A (p.Gly250Glu) rs2043078954
NM_006258.4(PRKG1):c.1528C>G (p.Arg510Gly) rs1564544146
NM_006363.6(SEC23B):c.2093T>A (p.Leu698Gln)
NM_006363.6(SEC23B):c.2214+72A>G rs868711834
NM_006363.6(SEC23B):c.256A>G (p.Asn86Asp)
NM_006363.6(SEC23B):c.733CTT[1] (p.Leu246del)
NM_006363.6(SEC23B):c.800G>A (p.Gly267Asp) rs754057624
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
NM_006363.6(SEC23B):c.938G>T (p.Arg313Leu)
NM_006371.5(CRTAP):c.733G>C (p.Ala245Pro) rs145644749
NM_006441.4(MTHFS):c.35G>A (p.Ser12Asn)
NM_006506.5(RASA2):c.1891T>C (p.Phe631Leu) rs2107776945
NM_006579.3(EBP):c.283G>A (p.Ala95Thr) rs2147154752
NM_006587.4(CORIN):c.1033A>G (p.Thr345Ala) rs1560502777
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1807G>A (p.Val603Ile)
NM_006767.4(LZTR1):c.1838TGA[1] (p.Met614del) rs1206305529
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006922.4(SCN3A):c.4825A>G (p.Met1609Val) rs1685094747
NM_007010.5(DDX52):c.1301_1302del (p.Ile433_Tyr434insTer) rs2030086520
NM_007078.3(LDB3):c.424T>C (p.Phe142Leu) rs2132371597
NM_007183.4(PKP3):c.29C>T (p.Ala10Val)
NM_007183.4(PKP3):c.569G>A (p.Gly190Asp)
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.770C>T (p.Ala257Val) rs1060502717
NM_007272.3(CTRC):c.499G>A (p.Gly167Ser) rs141205711
NM_007294.4(BRCA1):c.106T>A (p.Ser36Thr) rs905812561
NM_007294.4(BRCA1):c.1309C>T (p.His437Tyr) rs759878392
NM_007294.4(BRCA1):c.1534C>G (p.Leu512Val) rs41286294
NM_007294.4(BRCA1):c.1642A>G (p.Ile548Val) rs80356981
NM_007294.4(BRCA1):c.1764C>G (p.Ser588Arg) rs1597874296
NM_007294.4(BRCA1):c.2123C>T (p.Ser708Phe) rs80357182
NM_007294.4(BRCA1):c.2218G>C (p.Val740Leu) rs80357415
NM_007294.4(BRCA1):c.2620A>C (p.Asn874His) rs1064795862
NM_007294.4(BRCA1):c.2714A>G (p.Gln905Arg) rs397507203
NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del) rs80358333
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del) rs80357575
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.341C>G (p.Ser114Cys) rs786202620
NM_007294.4(BRCA1):c.3496G>C (p.Ala1166Pro) rs745418679
NM_007294.4(BRCA1):c.3666G>C (p.Glu1222Asp) rs1555587312
NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val) rs80357217
NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val) rs397509121
NM_007294.4(BRCA1):c.4079G>A (p.Ser1360Asn) rs2154265376
NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr) rs80357473
NM_007294.4(BRCA1):c.4594G>A (p.Val1532Ile) rs786201658
NM_007294.4(BRCA1):c.465A>C (p.Gln155His) rs864622260
NM_007294.4(BRCA1):c.4807_4821del (p.Pro1603_Val1607del) rs80359888
NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys) rs80357205
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro) rs80357442
NM_007294.4(BRCA1):c.5497G>T (p.Val1833Leu)
NM_007294.4(BRCA1):c.745A>T (p.Thr249Ser) rs397507256
NM_007294.4(BRCA1):c.817C>T (p.Pro273Ser) rs1597879824
NM_012073.5(CCT5):c.2T>G (p.Met1Arg) rs1355388433
NM_012208.4(HARS2):c.838C>G (p.Leu280Val) rs1439213535
NM_012294.5(RAPGEF5):c.2258G>A (p.Arg753Gln)
NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr) rs752572188
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) rs141945265
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs) rs917547961
NM_014249.4(NR2E3):c.458C>T (p.Ala153Val) rs1048454126
NM_014629.4(ARHGEF10):c.831C>G (p.Asn277Lys) rs756594069
NM_014800.11(ELMO1):c.376A>G (p.Ile126Val)
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014874.4(MFN2):c.1375C>T (p.Leu459Phe) rs1639321356
NM_014920.5(CILK1):c.1058C>T (p.Ala353Val) rs1764726771
NM_014931.4(PPP6R1):c.1008+4_1008+5del rs1169569776
NM_015015.3(KDM4B):c.433-2A>G rs2037064259
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.3564TAA[1] (p.Asn1189del) rs2131441680
NM_015046.7(SETX):c.4048A>G (p.Met1350Val)
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe) rs1445388214
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu) rs368269464
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg) rs1421049695
NM_015139.3(SLC35D1):c.398C>T (p.Pro133Leu) rs1558168052
NM_015198.5(COBL):c.2440A>G (p.Ile814Val)
NM_015278.5(SASH1):c.2951C>T (p.Pro984Leu) rs1430319963
NM_015340.4(LARS2):c.2506C>G (p.Pro836Ala)
NM_015404.4(WHRN):c.75CGG[2] (p.Gly29del) rs757435431
NM_015512.5(DNAH1):c.7147G>T (p.Gly2383Cys)
NM_015559.3(SETBP1):c.2309C>G (p.Ala770Gly) rs2071354469
NM_015559.3(SETBP1):c.2591C>T (p.Thr864Met)
NM_015683.2(ARRDC2):c.785G>A (p.Arg262Gln)
NM_015915.5(ATL1):c.1546G>A (p.Asp516Asn) rs776441162
NM_016169.4(SUFU):c.694C>T (p.Pro232Ser) rs1060501110
NM_016203.4(PRKAG2):c.359G>A (p.Arg120His) rs775756069
NM_016207.4(CPSF3):c.1200G>C (p.Gln400His) rs2124826854
NM_016213.5(TRIP4):c.143A>G (p.Tyr48Cys)
NM_016292.3(TRAP1):c.1512C>G (p.Asn504Lys) rs2050773569
NM_017415.3(KLHL3):c.1114G>A (p.Asp372Asn) rs1561586248
NM_017433.5(MYO3A):c.1534G>A (p.Glu512Lys) rs1564535973
NM_017433.5(MYO3A):c.154C>G (p.Leu52Val) rs1191024582
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017553.3(INO80):c.4162G>C (p.Ala1388Pro) rs149995664
NM_017581.4(CHRNA9):c.413G>A (p.Arg138Gln) rs533024809
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys) rs750170645
NM_017617.5(NOTCH1):c.3510+17G>A
NM_017617.5(NOTCH1):c.6940C>G (p.Leu2314Val)
NM_017842.3(SLC48A1):c.43T>C (p.Ser15Pro)
NM_017848.6(FAM120C):c.2850A>G (p.Pro950=) rs2146556315
NM_018018.5(SLC38A4):c.26T>C (p.Val9Ala)
NM_018082.6(POLR3B):c.2158G>A (p.Val720Ile)
NM_018100.4(EFHC1):c.682_692del (p.Asp228fs) rs775980459
NM_018143.3(KLHL11):c.1976T>C (p.Val659Ala)
NM_018341.3(ERMARD):c.960+2T>G rs1390061280
NM_018453.4(EAPP):c.130C>T (p.Leu44Phe) rs1880468284
NM_018557.3(LRP1B):c.9955G>A (p.Ala3319Thr) rs768863268
NM_018706.7(DHTKD1):c.2374A>G (p.Ile792Val)
NM_018706.7(DHTKD1):c.2573-13T>G rs2131630525
NM_018706.7(DHTKD1):c.2612C>T (p.Pro871Leu)
NM_018706.7(DHTKD1):c.2659-3_2659-2del rs761529786
NM_019076.5(UGT1A8):c.1202T>C (p.Met401Thr)
NM_019076.5(UGT1A8):c.1502T>A (p.Phe501Tyr)
NM_019076.5(UGT1A8):c.855+63716A>G
NM_019076.5(UGT1A8):c.855+64228A>G
NM_020134.4(DPYSL5):c.1669G>A (p.Gly557Arg) rs755205638
NM_020297.4(ABCC9):c.1616C>G (p.Ser539Cys) rs1565470260
NM_020297.4(ABCC9):c.2848A>T (p.Met950Leu) rs1448325219
NM_020351.4(COL8A1):c.673C>G (p.Arg225Gly) rs980591241
NM_020433.5(JPH2):c.1739C>T (p.Pro580Leu)
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr) rs565574386
NM_020631.6(PLEKHG5):c.1292T>G (p.Leu431Arg) rs746661057
NM_020631.6(PLEKHG5):c.1987A>G (p.Thr663Ala) rs1212737816
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu) rs113541584
NM_020631.6(PLEKHG5):c.633G>T (p.Gly211=) rs1365704916
NM_020631.6(PLEKHG5):c.912_914del (p.Asp304del) rs1557744230
NM_020759.3(STARD9):c.6955C>T (p.Arg2319Trp)
NM_020759.3(STARD9):c.986G>A (p.Arg329Gln)
NM_020765.3(UBR4):c.11615G>C (p.Cys3872Ser) rs2080036553
NM_020800.3(IFT80):c.1991A>G (p.His664Arg) rs1559914730
NM_020884.7(MYH7B):c.2957C>T (p.Thr986Met) rs780035845
NM_020975.6(RET):c.1731C>G (p.Asp577Glu) rs1554818709
NM_020975.6(RET):c.1765A>T (p.Ser589Cys) rs786202597
NM_020975.6(RET):c.2348A>C (p.Asn783Thr) rs587778656
NM_020975.6(RET):c.2648C>A (p.Ala883Asp) rs1293645997
NM_020981.4(B3GALT1):c.857A>G (p.Asn286Ser) rs1690308848
NM_021259.3(PGAP6):c.1139C>T (p.Ser380Leu)
NM_021625.5(TRPV4):c.1825-15C>G rs200602134
NM_021625.5(TRPV4):c.1879G>A (p.Gly627Ser) rs998369017
NM_021939.4(FKBP10):c.1207C>G (p.Arg403Gly) rs372896892
NM_021939.4(FKBP10):c.1373C>T (p.Pro458Leu)
NM_021939.4(FKBP10):c.1582G>T (p.Ala528Ser) rs1255679632
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_022124.6(CDH23):c.9247T>A (p.Phe3083Ile) rs1564807861
NM_022489.4(INF2):c.2281A>T (p.Ile761Phe) rs2140682868
NM_022489.4(INF2):c.257G>T (p.Gly86Val) rs1566777637
NM_022489.4(INF2):c.3541C>T (p.Pro1181Ser) rs1890210513
NM_022894.4(PAPOLG):c.604G>A (p.Gly202Ser)
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln) rs758138124
NM_024063.3(AFG2B):c.1976T>C (p.Leu659Pro)
NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly) rs768566143
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024675.4(PALB2):c.109C>T (p.Arg37Cys) rs200048921
NM_024675.4(PALB2):c.2918C>T (p.Thr973Ile) rs1465745143
NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile) rs1308784980
NM_024712.5(ELMO3):c.481T>G (p.Trp161Gly)
NM_025114.4(CEP290):c.7133C>G (p.Ala2378Gly) rs1565777729
NM_025132.4(WDR19):c.2213A>T (p.Asp738Val) rs1307951215
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu) rs769602871
NM_030625.3(TET1):c.3974T>A (p.Val1325Asp)
NM_030650.3(LNPK):c.682C>T (p.Pro228Ser)
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr) rs6094438
NM_031308.4(EPPK1):c.6634G>T (p.Glu2212Ter) rs781922272
NM_031419.4(NFKBIZ):c.824G>C (p.Arg275Thr) rs1312913255
NM_032043.3(BRIP1):c.1363T>C (p.Tyr455His) rs587780826
NM_032043.3(BRIP1):c.629C>A (p.Pro210His) rs140097800
NM_032119.4(ADGRV1):c.18674G>T (p.Ser6225Ile) rs1796208718
NM_032119.4(ADGRV1):c.7150C>T (p.Arg2384Trp) rs377475657
NM_032167.5(SNX29):c.1363_1364del (p.Leu455fs) rs2051719396
NM_032221.5(CHD6):c.3403C>T (p.Arg1135Cys) rs1332592488
NM_032447.5(FBN3):c.7170T>A (p.Cys2390Ter) rs768739224
NM_032578.4(MYPN):c.2537T>C (p.Met846Thr) rs1261517918
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032735.3(BEST3):c.1052C>G (p.Ala351Gly)
NM_033036.3(GAL3ST3):c.1296A>G (p.Ter432Trp) rs1856716057
NM_033337.3(CAV3):c.15G>C (p.Glu5Asp) rs1559639840
NM_033518.4(SLC38A5):c.406G>A (p.Val136Ile) rs2061475300
NM_052832.4(SLC26A7):c.299C>T (p.Ala100Val) rs2130766054
NM_052845.4(MMAB):c.43C>T (p.Arg15Cys) rs921232728
NM_053025.4(MYLK):c.1173C>G (p.Ser391Arg) rs375747284
NM_053025.4(MYLK):c.124C>T (p.Leu42Phe)
NM_053025.4(MYLK):c.1481G>C (p.Gly494Ala) rs1052992526
NM_053025.4(MYLK):c.3167A>G (p.Asp1056Gly) rs1553803351
NM_053025.4(MYLK):c.3393dup (p.Thr1132fs) rs2108576783
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_053025.4(MYLK):c.4573G>A (p.Val1525Met)
NM_053025.4(MYLK):c.5392G>A (p.Glu1798Lys) rs777616795
NM_053025.4(MYLK):c.5489G>A (p.Cys1830Tyr) rs1302244958
NM_053025.4(MYLK):c.848C>G (p.Ser283Trp)
NM_053042.3(ZNF518B):c.1676T>C (p.Val559Ala)
NM_080823.4(SRMS):c.921G>C (p.Lys307Asn) rs34412104
NM_080873.3(ASB11):c.306C>G (p.Leu102=) rs1920980264
NM_130839.5(UBE3A):c.767C>A (p.Ala256Glu) rs1566960274
NM_133259.4(LRPPRC):c.-4A>G rs1559083136
NM_133369.3(UNC5A):c.869G>C (p.Ser290Thr) rs1758083899
NM_133379.5(TTN):c.11323G>A (p.Ala3775Thr)
NM_138420.4(AHNAK2):c.299G>A (p.Arg100Lys) rs1898981140
NM_138477.4(CDAN1):c.1003C>T (p.Arg335Trp) rs751595854
NM_144573.4(NEXN):c.1522A>T (p.Thr508Ser)
NM_144573.4(NEXN):c.1671GGA[3] (p.Glu562del) rs397517848
NM_144997.7(FLCN):c.1697T>C (p.Met566Thr) rs756302545
NM_144997.7(FLCN):c.594_596del (p.Asp198del) rs1567819459
NM_144997.7(FLCN):c.871+22C>T
NM_145201.6(NAPRT):c.413T>A (p.Leu138Gln) rs1824573287
NM_145691.4(ATPAF2):c.402_404del (p.Phe134del) rs765826427
NM_145691.4(ATPAF2):c.680G>A (p.Arg227His) rs148095363
NM_147127.5(EVC2):c.1470G>A (p.Arg490=)
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His) rs779684008
NM_147127.5(EVC2):c.3876GAA[1] (p.Lys1293del) rs752839237
NM_152522.7(ARL6IP6):c.341C>T (p.Ser114Leu) rs1699498035
NM_152624.6(DCP2):c.88_89del (p.Asp30fs) rs1748258825
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.2695C>G (p.Arg899Gly) rs757572697
NM_153700.2(STRC):c.274C>T (p.Arg92Trp) rs1484849703
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153809.2(TAF1L):c.3797C>G (p.Pro1266Arg)
NM_170707.4(LMNA):c.964G>A (p.Asp322Asn) rs1651541047
NM_172201.2(KCNE2):c.197C>T (p.Ala66Val) rs16991656
NM_173477.5(USH1G):c.511G>A (p.Glu171Lys) rs201866631
NM_174878.3(CLRN1):c.43G>A (p.Val15Met) rs1559996357
NM_175914.5(HNF4A):c.671-10A>G rs2146444875
NM_177438.3(DICER1):c.3260C>T (p.Ala1087Val) rs180918578
NM_178335.3(CCDC50):c.1291C>A (p.Pro431Thr) rs139060348
NM_178505.8(TMEM26):c.229G>A (p.Val77Ile) rs201641949
NM_181523.3(PIK3R1):c.1987G>A (p.Val663Met) rs1747782919
NM_181882.3(PRX):c.2230G>A (p.Glu744Lys) rs2145728884
NM_181882.3(PRX):c.381+41G>A
NM_181882.3(PRX):c.7G>A (p.Ala3Thr)
NM_182925.5(FLT4):c.3436C>G (p.Arg1146Gly) rs774089319
NM_182932.3(SLC8A3):c.2389+6A>G rs2139694742
NM_182961.4(SYNE1):c.5269A>G (p.Ile1757Val) rs1196594228
NM_194248.3(OTOF):c.2632G>A (p.Glu878Lys) rs1172733523
NM_194248.3(OTOF):c.2693G>A (p.Gly898Asp) rs772312557
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_198060.4(NRAP):c.3889C>G (p.Arg1297Gly) rs767886812
NM_198681.4(PLEKHG5):c.-120C>T rs201669114
NM_198999.3(SLC26A5):c.13G>C (p.Glu5Gln) rs750489794
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile) rs751691851
NM_201253.3(CRB1):c.2486T>A (p.Val829Asp) rs1664670946
NM_201596.3(CACNB2):c.928C>G (p.His310Asp) rs1564644251
NM_203299.4(SPATA31G1):c.2836G>C (p.Glu946Gln) rs780819630
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln) rs1436435041
NM_206933.4(USH2A):c.12122T>C (p.Ile4041Thr) rs1558051246
NM_206933.4(USH2A):c.5698T>C (p.Cys1900Arg) rs201026468
NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp) rs374146074
NM_206933.4(USH2A):c.9187A>G (p.Lys3063Glu) rs1663780024
NM_207122.2(EXT2):c.2084G>A (p.Arg695Gln) rs1956071680
NM_213599.3(ANO5):c.2739_2740del (p.Ter914IleextTer?) rs746934922
NR_102687.2(DHRS4L1):n.426C>A rs2035511055
m.12811T>C rs199974018
m.4295A>G rs121434467
m.5814T>C rs200077222
m.9804G>A rs200613617

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