ClinVar Miner

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

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5975
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter) rs116711473 0.00908
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) rs115799619 0.00868
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met) rs61757218 0.00685
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_000085.5(CLCNKB):c.1297+5G>T rs35351345 0.00544
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg) rs188840960 0.00490
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) rs145526996 0.00431
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437 0.00425
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000552.5(VWF):c.5170+10C>T rs61750601 0.00400
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr) rs58599399 0.00373
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820 0.00369
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu) rs34491822 0.00357
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp) rs34767818 0.00349
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277 0.00340
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_000125.4(ESR1):c.16C>T (p.His6Tyr) rs139960913 0.00317
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_033004.4(NLRP1):c.2605G>A (p.Glu869Lys) rs146505967 0.00309
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304 0.00308
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val) rs72657389 0.00307
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val) rs202082304 0.00305
NM_019885.4(CYP26B1):c.572G>A (p.Arg191His) rs76025186 0.00305
NM_000101.4(CYBA):c.403G>A (p.Glu135Lys) rs114610092 0.00300
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp) rs139332126 0.00300
NM_005559.4(LAMA1):c.5302G>A (p.Val1768Met) rs73938527 0.00297
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) rs34615430 0.00292
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg) rs778160013 0.00286
NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly) rs10029227 0.00285
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_005215.4(DCC):c.2105A>G (p.Asn702Ser) rs35691189 0.00284
NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile) rs61751497 0.00284
NM_018136.5(ASPM):c.3599-4A>G rs149303254 0.00284
NM_016363.5(GP6):c.307C>G (p.Leu103Val) rs28969501 0.00283
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991 0.00282
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val) rs35398714 0.00276
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys) rs41292753 0.00274
NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe) rs145644205 0.00272
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln) rs140492803 0.00272
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932 0.00272
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_002439.5(MSH3):c.2511G>A (p.Leu837=) rs149628160 0.00270
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00269
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_001384910.1(GUCA1A):c.205G>T (p.Gly69Cys) rs146354667 0.00263
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln) rs138832868 0.00259
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000233.4(LHCGR):c.458+3A>G rs76210637 0.00257
NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu) rs61740253 0.00257
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) rs1872267 0.00253
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_017662.5(TRPM6):c.1421G>A (p.Arg474Gln) rs142043309 0.00251
NM_198239.2(CCN6):c.310G>C (p.Val104Leu) rs78266262 0.00251
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029 0.00250
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744 0.00249
NM_004525.3(LRP2):c.1973A>G (p.Tyr658Cys) rs111360923 0.00248
NM_000505.4(F12):c.418C>G (p.Leu140Val) rs35515200 0.00247
NM_000939.4(POMC):c.583G>A (p.Ala195Thr) rs141309351 0.00247
NM_020812.4(DOCK6):c.3752G>A (p.Arg1251Gln) rs200390354 0.00245
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_001349.4(DARS1):c.590G>A (p.Arg197His) rs141522501 0.00244
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu) rs151071546 0.00243
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832 0.00242
NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val) rs150546732 0.00240
NM_003235.5(TG):c.6200-7T>A rs79724982 0.00240
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly) rs531879999 0.00240
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser) rs114926839 0.00239
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly) rs116306908 0.00238
NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr) rs137862641 0.00237
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn) rs35234349 0.00236
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val) rs145035489 0.00236
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_001363711.2(DUOX2):c.2950G>T (p.Ala984Ser) rs138358075 0.00235
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076 0.00235
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) rs41545019 0.00233
NM_003999.3(OSMR):c.1307T>A (p.Val436Asp) rs34324145 0.00232
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val) rs144715071 0.00232
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_172095.4(CATSPER2):c.920G>C (p.Trp307Ser) rs146701338 0.00232
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_021729.6(VPS11):c.2078T>C (p.Met693Thr) rs146380141 0.00230
NM_138422.4(ADAT3):c.383G>T (p.Arg128Leu) rs200992550 0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_006949.4(STXBP2):c.365G>A (p.Arg122His) rs144914451 0.00229
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter) rs150070697 0.00229
NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp) rs147966258 0.00228
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00228
NM_002435.3(MPI):c.414G>A (p.Met138Ile) rs150217523 0.00227
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His) rs115742228 0.00227
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln) rs142688906 0.00227
NM_001163435.3(TBCK):c.1130A>T (p.Asp377Val) rs34840340 0.00225
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu) rs149953814 0.00223
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr) rs60445853 0.00223
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp) rs371307947 0.00222
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) rs139372744 0.00220
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329 0.00220
NM_001365276.2(TNXB):c.3272C>A (p.Ser1091Tyr) rs61978561 0.00219
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390 0.00219
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro) rs149602485 0.00217
NM_173630.4(RTTN):c.3338G>A (p.Cys1113Tyr) rs117774280 0.00217
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg) rs139010200 0.00216
NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu) rs199642627 0.00215
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu) rs61741974 0.00213
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys) rs146834675 0.00213
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_005245.4(FAT1):c.10966G>A (p.Val3656Ile) rs192691397 0.00212
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_006563.5(KLF1):c.311C>T (p.Ala104Val) rs182276666 0.00210
NM_018255.4(ELP2):c.224C>G (p.Ser75Cys) rs74438152 0.00210
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240 0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_005245.4(FAT1):c.9440T>G (p.Val3147Gly) rs188733415 0.00208
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00207
NM_020884.7(MYH7B):c.2629C>T (p.Arg877Cys) rs200371401 0.00207
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800 0.00206
NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser) rs148593258 0.00205
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) rs115299472 0.00205
NM_005559.4(LAMA1):c.1792G>C (p.Glu598Gln) rs116690149 0.00203
NM_014639.4(SKIC3):c.3940G>A (p.Glu1314Lys) rs74664147 0.00203
NM_177986.5(DSG4):c.2366C>T (p.Ala789Val) rs144490546 0.00203
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His) rs201006742 0.00202
NM_017775.4(TTC19):c.820A>G (p.Arg274Gly) rs147111211 0.00202
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_002439.5(MSH3):c.1469C>A (p.Ser490Tyr) rs76249824 0.00201
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg) rs191736683 0.00200
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_001567.4(INPPL1):c.1343C>T (p.Ser448Leu) rs139442327 0.00199
NM_181426.2(CCDC39):c.1363-3del rs551191744 0.00199
NM_003235.5(TG):c.6181G>A (p.Gly2061Arg) rs115436575 0.00198
NM_005559.4(LAMA1):c.1239C>A (p.Asp413Glu) rs144278838 0.00198
NM_017662.5(TRPM6):c.2319G>C (p.Gln773His) rs143164660 0.00198
NM_000389.5(CDKN1A):c.350G>A (p.Cys117Tyr) rs148679597 0.00196
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_000552.5(VWF):c.7059G>C (p.Glu2353Asp) rs112319661 0.00195
NM_000940.3(PON3):c.94C>T (p.Arg32Ter) rs147006695 0.00195
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn) rs61756352 0.00195
NM_030928.4(CDT1):c.1631A>T (p.Glu544Val) rs144843732 0.00195
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg) rs114568905 0.00194
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val) rs114507258 0.00194
NM_001012339.3(DNAJC21):c.316-8T>G rs182094106 0.00193
NM_004563.4(PCK2):c.1234+1G>T rs138881435 0.00193
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_181882.3(PRX):c.445G>A (p.Ala149Thr) rs142436391 0.00193
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_006059.4(LAMC3):c.4130C>T (p.Thr1377Ile) rs144662546 0.00189
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_002529.4(NTRK1):c.157G>C (p.Asp53His) rs200815412 0.00187
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074 0.00187
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys) rs141224456 0.00186
NM_002742.3(PRKD1):c.1356C>T (p.Thr452=) rs147948478 0.00185
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) rs138682163 0.00183
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) rs141195622 0.00183
NM_001363711.2(DUOX2):c.1351G>A (p.Asp451Asn) rs139786814 0.00183
NM_003737.4(DCHS1):c.5567C>A (p.Pro1856His) rs111515657 0.00182
NM_024876.4(COQ8B):c.1036-3C>G rs200061712 0.00182
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779 0.00179
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_198060.4(NRAP):c.2963A>C (p.Gln988Pro) rs150955833 0.00177
NM_001879.6(MASP1):c.1528A>G (p.Ser510Gly) rs28945070 0.00176
NM_020937.4(FANCM):c.491A>C (p.His164Pro) rs144278051 0.00176
NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys) rs61996318 0.00175
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_001034852.3(SMOC1):c.230C>T (p.Pro77Leu) rs143606483 0.00175
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542 0.00175
NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His) rs115199093 0.00175
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332 0.00172
NM_001105247.2(ARMC5):c.2192C>G (p.Pro731Arg) rs200951744 0.00172
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr) rs72657309 0.00171
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739 0.00171
NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly) rs35942532 0.00171
NM_138295.5(PKD1L1):c.6949C>T (p.Arg2317Trp) rs139293796 0.00171
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405 0.00170
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239 0.00170
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser) rs61750320 0.00170
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser) rs144530996 0.00170
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp) rs117175017 0.00169
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala) rs192242889 0.00168
NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln) rs143495342 0.00168
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_005559.4(LAMA1):c.5794C>G (p.Leu1932Val) rs115759032 0.00168
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417 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_178452.6(DNAAF1):c.1567G>A (p.Val523Ile) rs148387367 0.00167
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_005276.4(GPD1):c.612G>A (p.Lys204=) rs35256655 0.00166
NM_016953.4(PDE11A):c.1825G>A (p.Asp609Asn) rs77934668 0.00166
NM_017563.5(IL17RD):c.878C>T (p.Pro293Leu) rs150457965 0.00166
NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala) rs201738818 0.00166
NM_130810.4(DNAAF4):c.881A>T (p.Lys294Met) rs116339967 0.00165
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg) rs76897604 0.00164
NM_001276270.2(MBD4):c.1382A>G (p.Asn461Ser) rs78782061 0.00164
NM_003193.5(TBCE):c.394G>A (p.Val132Ile) rs144448831 0.00164
NM_016953.4(PDE11A):c.155G>C (p.Arg52Thr) rs77972073 0.00164
NM_017721.5(CC2D1A):c.1357-2A>C rs200557641 0.00164
NM_173630.4(RTTN):c.2804A>G (p.His935Arg) rs145832674 0.00164
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558 0.00163
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209 0.00163
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala) rs141417436 0.00163
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly) rs121908854 0.00163
NM_138295.5(PKD1L1):c.3475T>C (p.Tyr1159His) rs111983425 0.00163
NM_000036.3(AMPD1):c.334G>A (p.Val112Met) rs61741025 0.00162
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_003906.5(MCM3AP):c.1267A>G (p.Thr423Ala) rs144151494 0.00162
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_001384125.1(BLTP1):c.5194T>C (p.Cys1732Arg) rs75923324 0.00161
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn) rs112884419 0.00161
NM_004793.4(LONP1):c.767C>T (p.Ala256Val) rs116591583 0.00161
NM_005559.4(LAMA1):c.2900G>A (p.Gly967Asp) rs141851670 0.00161
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863 0.00160
NM_001397406.1(FDX2):c.299A>G (p.Asp100Gly) rs142729488 0.00160
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923 0.00160
NM_005726.6(TSFM):c.797T>A (p.Leu266His) rs146777264 0.00160
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val) rs143072070 0.00159
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr) rs61748535 0.00158
NM_000760.4(CSF3R):c.1748G>A (p.Arg583His) rs148104401 0.00158
NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met) rs147233112 0.00158
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser) rs202082944 0.00158
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_001206744.2(TPO):c.2715_2724dup (p.Ala909fs) rs554989865 0.00157
NM_001382567.1(STIM1):c.1634+287G>A rs562406813 0.00157
NM_004525.3(LRP2):c.6473A>C (p.Asn2158Thr) rs34052957 0.00157
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg) rs41299613 0.00157
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile) rs150672767 0.00156
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322 0.00156
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486 0.00156
NM_017775.4(TTC19):c.898A>C (p.Ile300Leu) rs143293913 0.00156
NM_032856.5(WDR73):c.935G>A (p.Arg312Gln) rs201294090 0.00156
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452 0.00156
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623 0.00155
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val) rs45596335 0.00155
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr) rs139659618 0.00154
NM_000040.3(APOC3):c.55+1G>A rs138326449 0.00153
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys) rs144747353 0.00153
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val) rs140234219 0.00153
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met) rs78028658 0.00153
NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile) rs144322413 0.00152
NM_004563.4(PCK2):c.1405C>T (p.Arg469Cys) rs141383988 0.00152
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) rs144060377 0.00151
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_004994.3(MMP9):c.773C>T (p.Thr258Ile) rs41529445 0.00151
NM_005993.5(TBCD):c.2566A>G (p.Met856Val) rs202149526 0.00151
NM_014967.5(FAN1):c.2071G>C (p.Glu691Gln) rs111476645 0.00151
NM_015175.3(NBEAL2):c.1634C>T (p.Ser545Leu) rs201749187 0.00151
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser) rs61995897 0.00151
NM_022081.6(HPS4):c.445A>G (p.Asn149Asp) rs140430822 0.00151
NM_024101.7(MLPH):c.1240G>C (p.Glu414Gln) rs61737688 0.00151
NM_001128431.4(SLC39A14):c.23C>G (p.Pro8Arg) rs34328787 0.00150
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val) rs148337824 0.00150
NM_001372.4(DNAH9):c.12835G>A (p.Gly4279Ser) rs78845357 0.00150
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr) rs3212977 0.00150
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892 0.00150
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=) rs77562287 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_001242908.2(RSPO1):c.658C>T (p.Arg220Trp) rs182482113 0.00149
NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys) rs199706377 0.00149
NM_001486.4(GCKR):c.1135dup (p.Thr379fs) rs573498430 0.00149
NM_003322.6(TULP1):c.1297G>A (p.Glu433Lys) rs74461100 0.00149
NM_004793.4(LONP1):c.742G>A (p.Asp248Asn) rs149169865 0.00149
NM_032380.5(GFM2):c.1234C>T (p.Arg412Cys) rs142425196 0.00149
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_001366722.1(GRIP1):c.1645A>G (p.Ile549Val) rs201867922 0.00148
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln) rs200484625 0.00148
NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr) rs149629209 0.00148
NM_020207.7(ERCC6L2):c.163T>G (p.Leu55Val) rs141719745 0.00148
NM_001042413.2(GLIS3):c.496C>G (p.Pro166Ala) rs141467694 0.00147
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) rs189438534 0.00147
NM_001369268.1(ACAN):c.230G>A (p.Arg77His) rs199701329 0.00147
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747 0.00147
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys) rs187662524 0.00146
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00146
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00145
NM_001543.5(NDST1):c.239G>A (p.Arg80His) rs145390254 0.00145
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060 0.00145
NM_022095.4(ZNF335):c.1418G>A (p.Arg473His) rs137901051 0.00145
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260 0.00144
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser) rs199879855 0.00144
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834 0.00144
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545 0.00144
NM_182476.3(COQ6):c.395A>G (p.Asp132Gly) rs45496292 0.00144
NM_004525.3(LRP2):c.7406A>G (p.Asp2469Gly) rs116507519 0.00143
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe) rs145496449 0.00143
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641 0.00143
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015 0.00142
NM_000213.5(ITGB4):c.4489C>T (p.Arg1497Cys) rs148205043 0.00141
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223 0.00141
NM_001382347.1(MYO5A):c.5093C>T (p.Ser1698Leu) rs9282796 0.00141
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_017721.5(CC2D1A):c.2372G>A (p.Arg791Gln) rs200354654 0.00141
NM_020812.4(DOCK6):c.133G>A (p.Val45Ile) rs183060698 0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser) rs181306086 0.00140
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396 0.00140
NM_173483.4(CYP4F22):c.463C>T (p.His155Tyr) rs141382984 0.00140
NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro) rs33995463 0.00140
NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr) rs142409885 0.00139
NM_004525.3(LRP2):c.2178G>T (p.Leu726Phe) rs144451000 0.00139
NM_033100.4(CDHR1):c.1553+6T>C rs199567321 0.00139
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_001041.4(SI):c.1043C>T (p.Pro348Leu) rs77546399 0.00138
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191 0.00137
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val) rs556192193 0.00137
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp) rs114917863 0.00137
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_001723.7(DST):c.4049C>T (p.Thr1350Met) rs45472691 0.00137
NM_003737.4(DCHS1):c.4080G>A (p.Ala1360=) rs372790303 0.00137
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729 0.00137
NM_000342.4(SLC4A1):c.1522G>A (p.Glu508Lys) rs45568837 0.00136
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn) rs570106950 0.00136
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys) rs759725715 0.00136
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) rs200938874 0.00136
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile) rs121918426 0.00135
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg) rs569602115 0.00135
NM_001369268.1(ACAN):c.199G>A (p.Ala67Thr) rs182894280 0.00135
NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser) rs200656662 0.00135
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_003235.5(TG):c.3999C>G (p.Ile1333Met) rs150728539 0.00134
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly) rs368458853 0.00133
NM_001235.5(SERPINH1):c.1219G>C (p.Val407Leu) rs138241050 0.00133
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu) rs199510509 0.00133
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393 0.00133
NM_005559.4(LAMA1):c.4550T>A (p.Val1517Asp) rs146822562 0.00132
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945 0.00132
NM_000428.3(LTBP2):c.3863G>T (p.Gly1288Val) rs139481866 0.00131
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157 0.00131
NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr) rs201407276 0.00131
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) rs201369510 0.00131
NM_032444.4(SLX4):c.422G>T (p.Gly141Val) rs77306735 0.00131
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) rs34928857 0.00131
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00130
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968 0.00130
NM_002439.5(MSH3):c.2740A>G (p.Ile914Val) rs148633216 0.00130
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile) rs35555197 0.00130
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr) rs121909075 0.00129
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu) rs148724199 0.00129
NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu) rs200897068 0.00128
NM_001379081.2(FREM1):c.795C>A (p.Asp265Glu) rs140222993 0.00128
NM_002439.5(MSH3):c.1313C>T (p.Ala438Val) rs35121792 0.00128
NM_005559.4(LAMA1):c.181G>A (p.Val61Ile) rs147676957 0.00128
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg) rs200243235 0.00128
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys) rs150062167 0.00128
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_006946.4(SPTBN2):c.5980C>T (p.Arg1994Trp) rs140000699 0.00127
NM_015466.4(PTPN23):c.257C>T (p.Ser86Leu) rs149197378 0.00127
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln) rs184249075 0.00126
NM_001145026.2(PTPRQ):c.3313A>G (p.Thr1105Ala) rs186746372 0.00126
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu) rs199855270 0.00126
NM_005559.4(LAMA1):c.6250C>T (p.Arg2084Trp) rs146111631 0.00126
NM_005876.5(SPEG):c.6358C>T (p.Leu2120Phe) rs201901718 0.00126
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00126
NM_033004.4(NLRP1):c.1732G>A (p.Gly578Ser) rs115799546 0.00126
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val) rs149399707 0.00126
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00125
NM_000327.4(ROM1):c.47G>A (p.Arg16His) rs143166696 0.00125
NM_000552.5(VWF):c.546G>A (p.Ser182=) rs143054357 0.00125
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser) rs10227922 0.00125
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001813.3(CENPE):c.326C>G (p.Ala109Gly) rs115065523 0.00125
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_001387430.1(SH2B1):c.269C>A (p.Pro90His) rs149091795 0.00124
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser) rs79179577 0.00123
NM_004655.4(AXIN2):c.2428G>A (p.Asp810Asn) rs140344858 0.00123
NM_005612.5(REST):c.2855A>G (p.Asp952Gly) rs148565623 0.00123
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) rs148833652 0.00123
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_020207.7(ERCC6L2):c.1375G>T (p.Val459Phe) rs146551545 0.00123
NM_020745.4(AARS2):c.2905G>T (p.Asp969Tyr) rs150039184 0.00123
NM_181507.2(HPS5):c.2402G>A (p.Ser801Asn) rs145135349 0.00123
NM_000369.5(TSHR):c.929G>A (p.Arg310His) rs139286618 0.00122
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro) rs549839037 0.00122
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) rs138655269 0.00121
NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu) rs200050988 0.00121
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738 0.00121
NM_003332.4(TYROBP):c.46C>T (p.Leu16=) rs147393700 0.00121
NM_015001.3(SPEN):c.908A>G (p.Asp303Gly) rs150756182 0.00121
NM_017433.5(MYO3A):c.424C>T (p.His142Tyr) rs140301218 0.00121
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947 0.00121
NM_000153.4(GALC):c.-327G>T rs185943390 0.00120
NM_001129.5(AEBP1):c.260C>T (p.Pro87Leu) rs75107445 0.00120
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391 0.00120
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_015378.4(VPS13D):c.459A>C (p.Gln153His) rs116415833 0.00120
NM_015466.4(PTPN23):c.4618A>G (p.Ile1540Val) rs111852098 0.00120
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00120
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119
NM_004793.4(LONP1):c.2711G>A (p.Arg904His) rs112807920 0.00119
NM_016023.5(OTUD6B):c.-39A>G rs199542428 0.00119
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu) rs201929423 0.00118
NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser) rs201280938 0.00118
NM_005876.5(SPEG):c.1753G>A (p.Gly585Ser) rs200066956 0.00118
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949 0.00118
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met) rs114400765 0.00118
NM_001715.3(BLK):c.974A>C (p.Lys325Thr) rs77401687 0.00117
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser) rs140157299 0.00117
NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val) rs148321018 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263 0.00116
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr) rs114473792 0.00116
NM_001385.3(DPYS):c.264+5C>T rs672601293 0.00116
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val) rs142941257 0.00116
NM_016023.5(OTUD6B):c.389C>A (p.Ala130Asp) rs143832637 0.00116
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg) rs375318012 0.00116
NM_178857.6(RP1L1):c.2923T>A (p.Leu975Met) rs146002320 0.00116
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398 0.00114
NM_005005.3(NDUFB9):c.109T>C (p.Tyr37His) rs140417066 0.00114
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00114
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys) rs146325169 0.00114
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr) rs199936876 0.00114
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911 0.00113
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158 0.00113
NM_001349.4(DARS1):c.1088G>A (p.Gly363Glu) rs2228660 0.00113
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser) rs141002044 0.00113
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu) rs146256526 0.00113
NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro) rs138586345 0.00113
NM_138694.4(PKHD1):c.281+3A>G rs79803080 0.00113
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu) rs202127176 0.00112
NM_002439.5(MSH3):c.1522A>G (p.Lys508Glu) rs146768828 0.00112
NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser) rs115198722 0.00112
NM_000163.5(GHR):c.239G>T (p.Gly80Val) rs114025919 0.00111
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln) rs144492145 0.00111
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284 0.00111
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101 0.00111
NM_004525.3(LRP2):c.170C>T (p.Ala57Val) rs115350461 0.00111
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) rs143189763 0.00111
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys) rs146081967 0.00111
NM_182914.3(SYNE2):c.7643+6T>C rs144143344 0.00111
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr) rs200510532 0.00110
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser) rs116118397 0.00110
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly) rs145929269 0.00110
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_015378.4(VPS13D):c.1414+5G>A rs190463258 0.00110
NM_001122769.3(LCA5):c.902G>A (p.Arg301His) rs139142572 0.00109
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser) rs201950081 0.00109
NM_003737.4(DCHS1):c.5503C>T (p.Leu1835Phe) rs148791938 0.00109
NM_004069.6(AP2S1):c.153+6G>A rs201686470 0.00109
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_000338.3(SLC12A1):c.2287C>G (p.Leu763Val) rs148689126 0.00108
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_000550.3(TYRP1):c.1554G>C (p.Gln518His) rs41305647 0.00108
NM_001041.4(SI):c.2320A>G (p.Arg774Gly) rs147207752 0.00108
NM_001127671.2(LIFR):c.670A>G (p.Ile224Val) rs151282774 0.00108
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile) rs35759430 0.00108
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln) rs142215888 0.00108
NM_005245.4(FAT1):c.11497A>G (p.Thr3833Ala) rs201279606 0.00108
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139 0.00108
NM_006267.5(RANBP2):c.783-6T>C rs138540027 0.00108
NM_018993.4(RIN2):c.2501A>T (p.Tyr834Phe) rs183141566 0.00108
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu) rs200053639 0.00108
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00108
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_025009.5(CEP135):c.64C>T (p.Arg22Cys) rs150681316 0.00107
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_207361.6(FREM2):c.3539C>G (p.Pro1180Arg) rs139236965 0.00107
NM_001377229.1(DISP1):c.3931G>A (p.Gly1311Ser) rs143356409 0.00106
NM_001384732.1(CPLANE1):c.8711A>G (p.Asp2904Gly) rs144427399 0.00106
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_052865.4(MGME1):c.242C>G (p.Pro81Arg) rs150656271 0.00106
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His) rs34963077 0.00106
NM_201631.4(TGM5):c.1632T>G (p.Ser544Arg) rs148226418 0.00106
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) rs146170855 0.00105
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757 0.00105
NM_002439.5(MSH3):c.1160T>A (p.Phe387Tyr) rs140543135 0.00105
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356 0.00105
NM_005245.4(FAT1):c.635A>T (p.Tyr212Phe) rs61747592 0.00105
NM_022124.6(CDH23):c.2865C>T (p.Arg955=) rs79636933 0.00105
NM_032656.4(DHX37):c.1270G>A (p.Ala424Thr) rs114271603 0.00105
NM_153816.6(SNX14):c.1074C>T (p.Gly358=) rs41271627 0.00105
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile) rs149001418 0.00104
NM_182977.3(NNT):c.3224C>T (p.Ala1075Val) rs139947920 0.00104
NM_020442.6(VARS2):c.451T>C (p.Ser151Pro) rs150863068 0.00103
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr) rs62641623 0.00103
NM_198129.4(LAMA3):c.4643A>G (p.Asp1548Gly) rs201045690 0.00103
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_005876.5(SPEG):c.3969G>T (p.Gln1323His) rs55876679 0.00102
NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys) rs1537044 0.00102
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr) rs144209883 0.00102
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) rs138039375 0.00102
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064 0.00101
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His) rs192234924 0.00101
NM_007055.4(POLR3A):c.3280G>A (p.Asp1094Asn) rs146861723 0.00101
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_016343.4(CENPF):c.4313A>G (p.Tyr1438Cys) rs142984971 0.00101
NM_020312.4(COQ9):c.323T>G (p.Leu108Arg) rs11547480 0.00101
NM_020987.5(ANK3):c.9935C>T (p.Ala3312Val) rs201625904 0.00101
NM_025074.7(FRAS1):c.10237C>T (p.Pro3413Ser) rs189612722 0.00101
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_000163.5(GHR):c.536G>A (p.Arg179His) rs6181 0.00100
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919 0.00100
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_001098.3(ACO2):c.2278G>A (p.Glu760Lys) rs115203053 0.00100
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) rs141721173 0.00100
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859 0.00100
NM_002662.5(PLD1):c.709G>T (p.Gly237Cys) rs149535568 0.00100
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser) rs150752263 0.00100
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His) rs141243126 0.00099
NM_018122.5(DARS2):c.188G>A (p.Gly63Asp) rs114714497 0.00099
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079 0.00099
NM_000040.3(APOC3):c.127G>A (p.Ala43Thr) rs147210663 0.00098
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val) rs138315990 0.00098
NM_000542.5(SFTPB):c.869G>A (p.Gly290Glu) rs45504597 0.00098
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln) rs113570783 0.00098
NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg) rs149919890 0.00098
NM_004341.5(CAD):c.3541C>T (p.Arg1181Trp) rs145562987 0.00098
NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe) rs148299415 0.00098
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu) rs56099091 0.00098
NM_005876.5(SPEG):c.9764G>A (p.Arg3255His) rs55821615 0.00098
NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser) rs200543358 0.00098
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159 0.00098
NM_032380.5(GFM2):c.1424C>T (p.Ala475Val) rs142986380 0.00098
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520 0.00098
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00097
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00097
NM_017837.4(PIGV):c.349A>G (p.Ile117Val) rs142192097 0.00097
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_000212.3(ITGB3):c.970A>G (p.Lys324Glu) rs147263592 0.00096
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_001010874.5(TECRL):c.893T>C (p.Val298Ala) rs146610448 0.00096
NM_001252024.2(TRPM1):c.3293+5G>A rs201442201 0.00096
NM_001278512.2(AP3B2):c.189G>A (p.Ala63=) rs145841558 0.00096
NM_001365276.2(TNXB):c.7750C>T (p.Arg2584Cys) rs201690494 0.00096
NM_005276.4(GPD1):c.431T>C (p.Met144Thr) rs146239968 0.00096
NM_016038.4(SBDS):c.127G>T (p.Val43Leu) rs147652512 0.00096
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_025233.7(COASY):c.-1C>T rs147852474 0.00096
NM_031448.6(C19orf12):c.313G>A (p.Val105Met) rs146492790 0.00096
NM_173689.7(CRB2):c.737G>A (p.Arg246His) rs150339335 0.00096
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg) rs147135554 0.00095
NM_017433.5(MYO3A):c.585+4A>T rs202189844 0.00095
NM_000440.3(PDE6A):c.2038A>G (p.Met680Val) rs148598583 0.00094
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_017565.4(FAM20A):c.193G>A (p.Gly65Ser) rs143371801 0.00094
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936 0.00094
NM_001012339.3(DNAJC21):c.656C>T (p.Ala219Val) rs144046917 0.00093
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys) rs543370102 0.00093
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_001852.4(COL9A2):c.775G>A (p.Gly259Ser) rs148362133 0.00093
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00093
NM_003664.5(AP3B1):c.942G>A (p.Ala314=) rs146871001 0.00093
NM_005664.4(MKRN3):c.425G>C (p.Gly142Ala) rs144864886 0.00093
NM_015972.4(POLR1D):c.329T>C (p.Val110Ala) rs138256149 0.00093
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) rs138061928 0.00093
NM_020812.4(DOCK6):c.5582G>A (p.Arg1861His) rs115035890 0.00093
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_001277115.2(DNAH11):c.3765C>T (p.Asp1255=) rs190062687 0.00092
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val) rs150610444 0.00092
NM_015836.4(WARS2):c.754C>T (p.Arg252Cys) rs149657255 0.00092
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser) rs149359927 0.00091
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala) rs376636291 0.00091
NM_001457.4(FLNB):c.2453G>A (p.Arg818Gln) rs151259375 0.00091
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp) rs201399007 0.00091
NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr) rs114112112 0.00091
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala) rs143006771 0.00091
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr) rs111554790 0.00091
NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly) rs144732922 0.00091
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg) rs144081297 0.00090
NM_212550.5(BLOC1S3):c.415G>T (p.Val139Leu) rs749030472 0.00090
NM_000094.4(COL7A1):c.8530C>T (p.Arg2844Trp) rs138002006 0.00089
NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile) rs72654357 0.00089
NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser) rs139138043 0.00089
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_002439.5(MSH3):c.2005C>T (p.Arg669Trp) rs35045151 0.00089
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu) rs140918583 0.00089
NM_004525.3(LRP2):c.9311G>A (p.Ser3104Asn) rs139523655 0.00089
NM_005559.4(LAMA1):c.2808+5G>A rs201030108 0.00089
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813 0.00089
NM_021942.6(TRAPPC11):c.2388A>C (p.Gly796=) rs151021715 0.00089
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp) rs146460077 0.00089
NM_194248.3(OTOF):c.3385G>A (p.Val1129Met) rs138249243 0.00089
NM_000236.3(LIPC):c.815C>T (p.Thr272Ile) rs148453176 0.00088
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) rs199989979 0.00088
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565 0.00088
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) rs144498273 0.00088
NM_001042545.2(LTBP4):c.814G>T (p.Ala272Ser) rs199990200 0.00088
NM_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser) rs192944055 0.00088
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu) rs373605761 0.00088
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_005529.7(HSPG2):c.12580G>A (p.Gly4194Arg) rs144496753 0.00088
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_080473.5(GATA5):c.477C>G (p.Phe159Leu) rs112433432 0.00088
NM_001291303.3(FAT4):c.3682C>G (p.Gln1228Glu) rs200227715 0.00087
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly) rs141467923 0.00087
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_000213.5(ITGB4):c.2638G>A (p.Asp880Asn) rs139092703 0.00086
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) rs146731467 0.00086
NM_001358921.2(COQ2):c.44C>G (p.Ala15Gly) rs555411841 0.00086
NM_001378778.1(MPDZ):c.4421A>T (p.Asp1474Val) rs201277979 0.00086
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr) rs145209035 0.00086
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669 0.00086
NM_017636.4(TRPM4):c.1376G>A (p.Arg459His) rs142312281 0.00086
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val) rs146062161 0.00086
NM_020442.6(VARS2):c.2589G>C (p.Glu863Asp) rs143473050 0.00086
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00086
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680 0.00086
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) rs199861426 0.00086
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys) rs200566665 0.00086
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly) rs149005052 0.00086
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys) rs143174906 0.00085
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_001457.4(FLNB):c.2494G>A (p.Ala832Thr) rs114804033 0.00085
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650 0.00085
NM_004826.4(ECEL1):c.1868G>C (p.Gly623Ala) rs138272112 0.00085
NM_016343.4(CENPF):c.4520C>T (p.Ser1507Phe) rs145589304 0.00085
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile) rs116321057 0.00085
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166 0.00084
NM_001083961.2(WDR62):c.2381C>G (p.Pro794Arg) rs149431376 0.00084
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu) rs140365206 0.00084
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738 0.00084
NM_004667.6(HERC2):c.3357G>A (p.Ala1119=) rs140345440 0.00084
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe) rs150314805 0.00084
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) rs139804851 0.00084
NM_001558.4(IL10RA):c.884C>T (p.Pro295Leu) rs56143179 0.00083
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352 0.00083
NM_004525.3(LRP2):c.9650A>G (p.Tyr3217Cys) rs143150497 0.00083
NM_005262.3(GFER):c.550C>A (p.Pro184Thr) rs183638147 0.00083
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740 0.00083
NM_012208.4(HARS2):c.784C>G (p.Pro262Ala) rs145104612 0.00083
NM_018060.4(IARS2):c.1057A>T (p.Thr353Ser) rs141215374 0.00083
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_022095.4(ZNF335):c.1646+5G>T rs149232277 0.00083
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln) rs114513239 0.00083
NM_183357.3(ADCY5):c.55G>A (p.Ala19Thr) rs550254165 0.00083
NM_001029883.3(PCARE):c.667C>G (p.Leu223Val) rs372323929 0.00082
NM_015114.3(ANKLE2):c.530C>T (p.Ser177Leu) rs185977448 0.00082
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413 0.00082
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile) rs113536228 0.00082
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813 0.00082
NM_000128.4(F11):c.797G>A (p.Ser266Asn) rs145168351 0.00081
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) rs200650758 0.00081
NM_001134665.3(TRMT10A):c.665C>T (p.Ala222Val) rs140905333 0.00081
NM_001203.3(BMPR1B):c.671G>A (p.Arg224His) rs35973133 0.00081
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met) rs113688475 0.00081
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn) rs867530230 0.00081
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala) rs144937332 0.00081
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) rs142658611 0.00081
NM_002500.5(NEUROD1):c.610C>T (p.Pro204Ser) rs142123958 0.00081
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_024996.7(GFM1):c.667A>G (p.Ile223Val) rs143446452 0.00081
NM_153700.2(STRC):c.4157T>C (p.Val1386Ala) rs377674360 0.00081
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr) rs138156449 0.00080
NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala) rs150175668 0.00080
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met) rs372935580 0.00080
NM_001848.3(COL6A1):c.996C>T (p.Gly332=) rs11702055 0.00080
NM_002181.4(IHH):c.857C>T (p.Pro286Leu) rs140093604 0.00080
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) rs139287714 0.00080
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098 0.00080
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) rs62645939 0.00079
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703 0.00079
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His) rs139375212 0.00079
NM_004366.6(CLCN2):c.370C>T (p.Arg124Trp) rs139188499 0.00079
NM_005559.4(LAMA1):c.6025G>A (p.Ala2009Thr) rs147813944 0.00079
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_006059.4(LAMC3):c.2227A>G (p.Asn743Asp) rs36030184 0.00079
NM_025132.4(WDR19):c.1198C>T (p.Leu400=) rs199765304 0.00079
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu) rs137852660 0.00079
NM_130810.4(DNAAF4):c.862A>G (p.Lys288Glu) rs147149511 0.00079
NM_173630.4(RTTN):c.4615G>A (p.Asp1539Asn) rs201473797 0.00079
NM_000275.3(OCA2):c.1117-17T>C rs200081580 0.00078
NM_001363711.2(DUOX2):c.4637A>G (p.Glu1546Gly) rs201229193 0.00078
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_001384732.1(CPLANE1):c.2132C>T (p.Ser711Leu) rs116237993 0.00078
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile) rs61757375 0.00078
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn) rs138269726 0.00078
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_006059.4(LAMC3):c.3374C>T (p.Ser1125Leu) rs151213335 0.00078
NM_014317.5(PDSS1):c.760G>C (p.Glu254Gln) rs145758711 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr) rs143218310 0.00078
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met) rs143728180 0.00078
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr) rs34406289 0.00078
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065 0.00078
NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg) rs144808448 0.00078
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln) rs143275858 0.00078
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala) rs141686828 0.00078
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala) rs149008060 0.00077
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg) rs149459564 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 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_004366.6(CLCN2):c.2683G>A (p.Asp895Asn) rs150751460 0.00077
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser) rs145830034 0.00077
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674 0.00077
NM_025207.5(FLAD1):c.1309C>T (p.Arg437Cys) rs146865554 0.00077
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser) rs144900788 0.00076
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val) rs146333579 0.00076
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys) rs150556877 0.00076
NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly) rs112933248 0.00076
NM_002296.4(LBR):c.1237C>T (p.Arg413Cys) rs144672633 0.00076
NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu) rs145099391 0.00076
NM_003764.4(STX11):c.26T>G (p.Leu9Arg) rs34470310 0.00076
NM_004667.6(HERC2):c.2747-3C>A rs200632307 0.00076
NM_004782.4(SNAP29):c.629C>T (p.Ser210Phe) rs141934766 0.00076
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649 0.00076
NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile) rs144251950 0.00076
NM_020937.4(FANCM):c.2517T>G (p.Ile839Met) rs61744648 0.00076
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351 0.00076
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) rs146913105 0.00076
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln) rs150499790 0.00075
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_025207.5(FLAD1):c.787C>T (p.Arg263Trp) rs146501091 0.00075
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met) rs138803855 0.00075
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00074
NM_001378609.3(OTOGL):c.1284T>A (p.Asp428Glu) rs202061419 0.00074
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) rs141609058 0.00074
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp) rs116099040 0.00074
NM_018713.3(SLC30A10):c.1293C>A (p.His431Gln) rs79106013 0.00074
NM_033419.5(PGAP3):c.477G>C (p.Arg159Ser) rs150483675 0.00074
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr) rs147929290 0.00074
NM_000124.4(ERCC6):c.150G>A (p.Val50=) rs80133923 0.00073
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val) rs143282164 0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) rs145478892 0.00073
NM_001083961.2(WDR62):c.303C>A (p.Asn101Lys) rs139371621 0.00073
NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala) rs147309177 0.00073
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser) rs202205643 0.00073
NM_002936.6(RNASEH1):c.286A>T (p.Ser96Cys) rs138292342 0.00073
NM_005422.4(TECTA):c.2604G>T (p.Thr868=) rs139509847 0.00073
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525 0.00073
NM_020987.5(ANK3):c.7469C>T (p.Pro2490Leu) rs140741466 0.00073
NM_145199.3(LIPT1):c.452G>A (p.Arg151Lys) rs150683925 0.00073
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys) rs200206105 0.00073
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_000844.4(GRM7):c.569G>A (p.Arg190Gln) rs144324520 0.00072
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499 0.00072
NM_001148.6(ANK2):c.669+3A>G rs370475820 0.00072
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala) rs273585627 0.00072
NM_001378609.3(OTOGL):c.2551G>A (p.Asp851Asn) rs112430701 0.00072
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr) rs140874089 0.00072
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_000236.3(LIPC):c.1226A>C (p.Asp409Ala) rs142036980 0.00071
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164 0.00071
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071 0.00071
NM_001080449.3(DNA2):c.68C>T (p.Ala23Val) rs200467869 0.00071
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006 0.00071
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn) rs111033261 0.00071
NM_001292063.2(OTOG):c.2249G>A (p.Arg750His) rs112634925 0.00071
NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser) rs139012426 0.00071
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_014633.5(CTR9):c.3211G>A (p.Gly1071Ser) rs35766432 0.00071
NM_020247.5(COQ8A):c.1378A>G (p.Ser460Gly) rs149364914 0.00071
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr) rs147314430 0.00071
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216 0.00070
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys) rs145268073 0.00070
NM_001813.3(CENPE):c.6437A>G (p.Tyr2146Cys) rs141813170 0.00070
NM_002471.4(MYH6):c.3980C>T (p.Ala1327Val) rs148558068 0.00070
NM_173560.4(RFX6):c.2553G>T (p.Gln851His) rs145117989 0.00070
NM_000213.5(ITGB4):c.5243G>A (p.Arg1748His) rs151053969 0.00069
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg) rs181292216 0.00069
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) rs148938083 0.00069
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp) rs201442593 0.00069
NM_001558.4(IL10RA):c.1235G>A (p.Arg412Gln) rs117423374 0.00069
NM_001852.4(COL9A2):c.1621G>A (p.Ala541Thr) rs200325312 0.00069
NM_004525.3(LRP2):c.6938C>T (p.Pro2313Leu) rs73035708 0.00069
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021 0.00069
NM_025265.4(TSEN2):c.376C>T (p.Arg126Cys) rs151133206 0.00069
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=) rs147371835 0.00069
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu) rs149678604 0.00068
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met) rs145502954 0.00068
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln) rs146140125 0.00068
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596 0.00068
NM_001378609.3(OTOGL):c.3742C>G (p.His1248Asp) rs201328043 0.00068
NM_005002.5(NDUFA9):c.722A>G (p.Tyr241Cys) rs139012735 0.00068
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885 0.00068
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe) rs143676075 0.00068
NM_018960.6(GNMT):c.469C>T (p.Arg157Trp) rs142613217 0.00068
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) rs200228767 0.00068
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562 0.00068
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala) rs573577299 0.00068
NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys) rs141802822 0.00067
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met) rs192347853 0.00067
NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln) rs140018418 0.00067
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173 0.00067
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) rs141724500 0.00067
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) rs201261159 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu) rs116568645 0.00066
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_001378778.1(MPDZ):c.3602C>G (p.Thr1201Ser) rs184213204 0.00066
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu) rs201340369 0.00066
NM_001558.4(IL10RA):c.1072G>A (p.Asp358Asn) rs78753252 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00066
NM_017547.4(FOXRED1):c.683G>A (p.Arg228Gln) rs139851379 0.00066
NM_017909.4(RMND1):c.320T>A (p.Val107Glu) rs199787718 0.00066
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala) rs115507225 0.00066
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00066
NM_194279.4(ISCA2):c.83C>T (p.Ala28Val) rs371830968 0.00066
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp) rs145042327 0.00065
NM_001256071.3(RNF213):c.14677G>C (p.Glu4893Gln) rs143163385 0.00065
NM_001365276.2(TNXB):c.8285A>G (p.His2762Arg) rs376978176 0.00065
NM_001368882.1(COL13A1):c.1931T>C (p.Ile644Thr) rs147220162 0.00065
NM_002491.3(NDUFB3):c.19C>T (p.His7Tyr) rs144513268 0.00065
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly) rs200545555 0.00065
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys) rs144915346 0.00065
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324 0.00065
NM_015721.3(GEMIN4):c.2197C>T (p.Leu733=) rs188821606 0.00065
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244 0.00065
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272 0.00065
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572 0.00065
NM_213599.3(ANO5):c.294G>A (p.Ala98=) rs142858990 0.00065
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522 0.00064
NM_000875.5(IGF1R):c.1784G>A (p.Arg595His) rs56248469 0.00064
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln) rs200963111 0.00064
NM_001368882.1(COL13A1):c.630+2T>C rs546473709 0.00064
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00064
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser) rs76714828 0.00064
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile) rs143917509 0.00064
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) rs142982022 0.00064
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) rs149887215 0.00064
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His) rs201884654 0.00064
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437 0.00064
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_139242.4(MTFMT):c.35C>T (p.Pro12Leu) rs774208069 0.00064
NM_172201.2(KCNE2):c.317C>T (p.Ser106Leu) rs183427173 0.00064
NM_182943.3(PLOD2):c.844T>C (p.Cys282Arg) rs138948307 0.00064
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln) rs145844320 0.00064
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn) rs141845482 0.00063
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) rs199473505 0.00063
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418 0.00063
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) rs779791579 0.00063
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_001039141.3(TRIOBP):c.202A>G (p.Thr68Ala) rs200529550 0.00063
NM_001122659.3(EDNRB):c.227G>T (p.Arg76Met) rs2228271 0.00063
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu) rs141953425 0.00063
NM_001379500.1(COL18A1):c.107-12197G>A rs200284308 0.00063
NM_004304.5(ALK):c.932G>A (p.Arg311His) rs150966028 0.00063
NM_004525.3(LRP2):c.7747G>A (p.Val2583Met) rs145201961 0.00063
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp) rs55916864 0.00063
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu) rs137870876 0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350 0.00063
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00063
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile) rs751346260 0.00062
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe) rs148426950 0.00062
NM_032730.5(RTN4IP1):c.335G>A (p.Gly112Glu) rs143924605 0.00062
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000245.4(MET):c.467C>T (p.Ser156Leu) rs56311081 0.00061
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_000540.3(RYR1):c.9555-7C>G rs376790946 0.00061
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) rs151335249 0.00061
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) rs139833874 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001291303.3(FAT4):c.5792A>G (p.Tyr1931Cys) rs139716832 0.00061
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser) rs368261417 0.00061
NM_001292063.2(OTOG):c.7324C>G (p.Leu2442Val) rs573071858 0.00061
NM_001367624.2(ZNF469):c.6829G>A (p.Val2277Ile) rs760816769 0.00061
NM_001367624.2(ZNF469):c.8860T>C (p.Trp2954Arg) rs557063759 0.00061
NM_001844.5(COL2A1):c.398C>A (p.Pro133His) rs201234519 0.00061
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00061
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665 0.00061
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_003906.5(MCM3AP):c.3305C>T (p.Ala1102Val) rs142784252 0.00061
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) rs141874052 0.00061
NM_014165.4(NDUFAF4):c.197A>G (p.Lys66Arg) rs148667964 0.00061
NM_015627.3(LDLRAP1):c.284G>A (p.Arg95Gln) rs139877665 0.00061
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533 0.00061
NM_057176.3(BSND):c.851G>A (p.Gly284Asp) rs150426464 0.00061
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu) rs140388347 0.00061
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697 0.00061
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp) rs201041716 0.00061
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) rs146490788 0.00061
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys) rs138087806 0.00061
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_003737.4(DCHS1):c.7192G>T (p.Val2398Phe) rs145939548 0.00060
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met) rs111759871 0.00060
NM_006073.4(TRDN):c.277C>T (p.Arg93Cys) rs370788759 0.00060
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn) rs191798831 0.00060
NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met) rs200848641 0.00059
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768 0.00059
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_001286577.2(C2CD3):c.5404T>C (p.Tyr1802His) rs141407711 0.00059
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_003235.5(TG):c.455G>A (p.Arg152His) rs114781869 0.00059
NM_018136.5(ASPM):c.9272G>A (p.Arg3091His) rs147005963 0.00059
NM_020745.4(AARS2):c.1195A>C (p.Asn399His) rs148363748 0.00059
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=) rs200793989 0.00058
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His) rs200555745 0.00058
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966 0.00058
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_003480.4(MFAP5):c.12G>A (p.Leu4=) rs148879406 0.00058
NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr) rs61742059 0.00058
NM_005068.3(SIM1):c.2119G>C (p.Asp707His) rs74726213 0.00058
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00058
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) rs794727076 0.00058
NM_012338.4(TSPAN12):c.181C>T (p.Pro61Ser) rs145449060 0.00058
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185 0.00058
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg) rs112744561 0.00058
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682 0.00057
NM_000335.5(SCN5A):c.568C>G (p.Arg190Gly) rs199473068 0.00057
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361 0.00057
NM_001289104.2(PRKCSH):c.454C>T (p.Arg152Trp) rs151207349 0.00057
NM_001367624.2(ZNF469):c.6326A>G (p.Asp2109Gly) rs755640019 0.00057
NM_002972.4(SBF1):c.5197C>T (p.Arg1733Cys) rs199972466 0.00057
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr) rs142833529 0.00057
NM_017827.4(SARS2):c.352C>T (p.Arg118Trp) rs147412052 0.00057
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp) rs78211353 0.00057
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys) rs146574121 0.00057
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_173076.3(ABCA12):c.3949A>G (p.Met1317Val) rs145178648 0.00057
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00057
NM_206933.4(USH2A):c.6989A>G (p.Glu2330Gly) rs138992047 0.00057
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00056
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064 0.00056
NM_001012339.3(DNAJC21):c.370G>C (p.Glu124Gln) rs139629564 0.00056
NM_001042545.2(LTBP4):c.123C>T (p.Cys41=) rs370611661 0.00056
NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys) rs143513466 0.00056
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln) rs571622809 0.00056
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr) rs61735580 0.00056
NM_003108.4(SOX11):c.709C>G (p.Leu237Val) rs140772793 0.00056
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp) rs104894763 0.00056
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001291303.3(FAT4):c.13555G>A (p.Ala4519Thr) rs202148971 0.00055
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp) rs144411579 0.00055
NM_001378609.3(OTOGL):c.169-8T>C rs189897002 0.00055
NM_001378609.3(OTOGL):c.4976C>T (p.Ser1659Phe) rs181109105 0.00055
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644 0.00055
NM_002495.4(NDUFS4):c.80T>A (p.Val27Asp) rs145347909 0.00055
NM_004525.3(LRP2):c.1189A>G (p.Ile397Val) rs140575982 0.00055
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054 0.00055
NM_015160.3(PMPCA):c.476G>T (p.Gly159Val) rs143813417 0.00055
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898 0.00055
NM_001292063.2(OTOG):c.1700G>A (p.Arg567Gln) rs142253169 0.00054
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) rs150576530 0.00054
NM_007215.4(POLG2):c.466A>G (p.Ile156Val) rs137901677 0.00054
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) rs139387396 0.00054
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018 0.00054
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919 0.00053
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=) rs140719298 0.00053
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
NM_001083961.2(WDR62):c.4564G>A (p.Gly1522Arg) rs142600079 0.00053
NM_001292063.2(OTOG):c.2405T>A (p.Leu802Gln) rs144972211 0.00053
NM_005276.4(GPD1):c.590T>C (p.Val197Ala) rs2232207 0.00053
NM_005612.5(REST):c.2486A>G (p.Glu829Gly) rs146942863 0.00053
NM_152722.5(HEPACAM):c.862C>T (p.Arg288Cys) rs149782549 0.00053
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) rs142285781 0.00053
NM_000032.5(ALAS2):c.653G>A (p.Arg218His) rs185504937 0.00052
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile) rs147221131 0.00052
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met) rs142580756 0.00052
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696 0.00052
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser) rs139070796 0.00052
NM_001286577.2(C2CD3):c.6251C>G (p.Thr2084Ser) rs562313391 0.00052
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe) rs200160858 0.00052
NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys) rs376513000 0.00052
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile) rs199798449 0.00052
NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His) rs201971987 0.00052
NM_014332.3(SMPX):c.132G>A (p.Glu44=) rs199907508 0.00052
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu) rs201845569 0.00052
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_206933.4(USH2A):c.3581C>T (p.Pro1194Leu) rs145114751 0.00052
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) rs151185188 0.00051
NM_000124.4(ERCC6):c.4095T>A (p.Asn1365Lys) rs150277901 0.00051
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853 0.00051
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu) rs139069946 0.00051
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp) rs184394342 0.00051
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535 0.00051
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) rs202184174 0.00051
NM_001292063.2(OTOG):c.6937C>T (p.Pro2313Ser) rs543999548 0.00051
NM_001292063.2(OTOG):c.7975G>A (p.Val2659Met) rs542442173 0.00051
NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn) rs202227084 0.00051
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr) rs553227769 0.00051
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041 0.00051
NM_001378609.3(OTOGL):c.6613G>T (p.Ala2205Ser) rs374634079 0.00051
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496 0.00051
NM_001852.4(COL9A2):c.335T>G (p.Leu112Arg) rs143008970 0.00051
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu) rs77937237 0.00051
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_003383.5(VLDLR):c.2371G>A (p.Val791Ile) rs35334949 0.00051
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr) rs77170608 0.00051
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn) rs201415651 0.00051
NM_032620.4(GTPBP3):c.614A>G (p.Tyr205Cys) rs149839355 0.00051
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys) rs141706561 0.00051
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile) rs144129296 0.00051
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp) rs146522169 0.00051
NM_145691.4(ATPAF2):c.111C>T (p.Ala37=) rs34738009 0.00051
NM_145691.4(ATPAF2):c.805G>A (p.Gly269Ser) rs142604577 0.00051
NM_000041.4(APOE):c.761T>A (p.Val254Glu) rs199768005 0.00050
NM_000069.3(CACNA1S):c.-4A>G rs200408018 0.00050
NM_000207.3(INS):c.227G>A (p.Ser76Asn) rs139264769 0.00050
NM_001084.5(PLOD3):c.335A>G (p.Asp112Gly) rs200949505 0.00050
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn) rs144848998 0.00050
NM_001202.6(BMP4):c.345C>T (p.Asn115=) rs143687498 0.00050
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_002335.4(LRP5):c.1032G>C (p.Leu344=) rs143499301 0.00050
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779 0.00050
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp) rs151299406 0.00050
NM_024079.5(ALG8):c.869A>G (p.Asn290Ser) rs61995923 0.00050
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) rs150785666 0.00050
NM_183357.3(ADCY5):c.2866G>A (p.Asp956Asn) rs200892634 0.00050
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala) rs200221425 0.00049
NM_001384140.1(PCDH15):c.4671+1046A>G rs201855435 0.00049
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022 0.00048
NM_001039141.3(TRIOBP):c.2835C>G (p.Asp945Glu) rs200608722 0.00048
NM_001105206.3(LAMA4):c.3055T>C (p.Tyr1019His) rs73532636 0.00048
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_001277115.2(DNAH11):c.6352G>A (p.Gly2118Ser) rs72657342 0.00048
NM_001291303.3(FAT4):c.12342C>G (p.Ile4114Met) rs150804471 0.00048
NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile) rs145835705 0.00048
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly) rs545257884 0.00048
NM_001292063.2(OTOG):c.4246C>T (p.Arg1416Trp) rs559512010 0.00048
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp) rs189656371 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620 0.00048
NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg) rs141698427 0.00048
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_002335.4(LRP5):c.4256A>G (p.Asn1419Ser) rs145750689 0.00048
NM_004046.6(ATP5F1A):c.416A>G (p.Asp139Gly) rs148515768 0.00048
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile) rs148759919 0.00048
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu) rs199641113 0.00048
NM_005886.3(KATNB1):c.1110C>T (p.Arg370=) rs146443074 0.00048
NM_014049.5(ACAD9):c.195T>C (p.Asn65=) rs144978857 0.00048
NM_020745.4(AARS2):c.2630G>A (p.Arg877Gln) rs141941157 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_033004.4(NLRP1):c.2009C>T (p.Thr670Ile) rs61753139 0.00048
NM_033004.4(NLRP1):c.2056A>G (p.Met686Val) rs61753138 0.00048
NM_000173.7(GP1BA):c.1232C>T (p.Pro411Leu) rs139921368 0.00047
NM_000722.4(CACNA2D1):c.2397T>A (p.Val799=) rs191213592 0.00047
NM_000843.4(GRM6):c.1943C>T (p.Ala648Val) rs61733863 0.00047
NM_001035.3(RYR2):c.8209-3A>G rs376788358 0.00047
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) rs147630375 0.00047
NM_001042545.2(LTBP4):c.3550C>T (p.Arg1184Trp) rs34051360 0.00047
NM_001291303.3(FAT4):c.4199G>A (p.Arg1400His) rs376791829 0.00047
NM_001365276.2(TNXB):c.5938G>A (p.Ala1980Thr) rs148556332 0.00047
NM_001370595.2(COA8):c.192C>T (p.Asn64=) rs200801272 0.00047
NM_002296.4(LBR):c.1057C>T (p.Arg353Trp) rs138731836 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys) rs147854826 0.00047
NM_020937.4(FANCM):c.3681A>G (p.Leu1227=) rs61749475 0.00047
NM_174934.4(SCN4B):c.542T>C (p.Leu181Pro) rs61065977 0.00047
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615 0.00047
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala) rs146445078 0.00047
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000081.4(LYST):c.143A>G (p.His48Arg) rs200132460 0.00046
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491 0.00046
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys) rs201195495 0.00046
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00046
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu) rs147426388 0.00046
NM_001852.4(COL9A2):c.927T>G (p.Asp309Glu) rs200290031 0.00046
NM_002335.4(LRP5):c.2829G>A (p.Pro943=) rs201018263 0.00046
NM_004006.3(DMD):c.3162+4A>G rs189048508 0.00046
NM_006767.4(LZTR1):c.1531G>A (p.Val511Met) rs200062851 0.00046
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg) rs200843771 0.00046
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro) rs201826872 0.00046
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu) rs60734921 0.00046
NM_022773.4(LMF1):c.1405G>A (p.Ala469Thr) rs181731943 0.00046
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly) rs200197273 0.00046
NM_130468.4(CHST14):c.635T>C (p.Val212Ala) rs144629123 0.00046
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg) rs145075161 0.00046
NM_183357.3(ADCY5):c.818T>C (p.Val273Ala) rs141412542 0.00046
NM_206933.4(USH2A):c.10609C>T (p.Leu3537Phe) rs138656755 0.00046
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_000124.4(ERCC6):c.4144G>A (p.Gly1382Arg) rs4253228 0.00045
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro) rs148069478 0.00045
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) rs201414940 0.00045
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr) rs141027782 0.00045
NM_001292063.2(OTOG):c.94+75G>T rs550807341 0.00045
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629 0.00045
NM_001355436.2(SPTB):c.5942G>A (p.Arg1981His) rs146513976 0.00045
NM_001365999.1(SZT2):c.8944C>T (p.His2982Tyr) rs754779853 0.00045
NM_001367624.2(ZNF469):c.8695G>A (p.Gly2899Ser) rs202129382 0.00045
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289 0.00045
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu) rs146875699 0.00045
NM_001983.4(ERCC1):c.191C>T (p.Ala64Val) rs142631483 0.00045
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr) rs144900514 0.00045
NM_006891.4(CRYGD):c.264C>G (p.His88Gln) rs75156162 0.00045
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) rs139509075 0.00045
NM_014317.5(PDSS1):c.686C>G (p.Ser229Cys) rs142182789 0.00045
NM_014336.5(AIPL1):c.627G>A (p.Arg209=) rs142319505 0.00045
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile) rs141011840 0.00045
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr) rs146968463 0.00045
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln) rs139193948 0.00045
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410 0.00045
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=) rs183834387 0.00045
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln) rs376811907 0.00045
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_138395.4(MARS2):c.43G>A (p.Ala15Thr) rs145171191 0.00045
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001291303.3(FAT4):c.2917G>A (p.Val973Ile) rs199497561 0.00044
NM_001378183.1(PIEZO2):c.152C>T (p.Thr51Met) rs371432372 0.00044
NM_001378778.1(MPDZ):c.2537C>G (p.Ser846Cys) rs200553028 0.00044
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00044
NM_003098.3(SNTA1):c.619C>T (p.Arg207Trp) rs139537086 0.00044
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr) rs149659876 0.00044
NM_005357.4(LIPE):c.998G>A (p.Arg333Gln) rs112497256 0.00044
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys) rs181571822 0.00044
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397 0.00044
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu) rs202101019 0.00044
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile) rs201364852 0.00044
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_198999.3(SLC26A5):c.2177C>T (p.Ala726Val) rs150726851 0.00044
NM_000540.3(RYR1):c.12203A>G (p.Lys4068Arg) rs114009747 0.00043
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser) rs145301300 0.00043
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly) rs537312655 0.00043
NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp) rs150355046 0.00043
NM_001363711.2(DUOX2):c.3103G>A (p.Val1035Met) rs138774384 0.00043
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp) rs575820215 0.00043
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser) rs142718547 0.00043
NM_001852.4(COL9A2):c.376C>A (p.Pro126Thr) rs146903539 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_183357.3(ADCY5):c.910G>A (p.Ala304Thr) rs138488088 0.00043
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln) rs146793133 0.00042
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe) rs143445685 0.00042
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val) rs201685063 0.00042
NM_001365276.2(TNXB):c.8012C>T (p.Ala2671Val) rs201037895 0.00042
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_001457.4(FLNB):c.7510G>A (p.Ala2504Thr) rs148364272 0.00042
NM_004646.4(NPHS1):c.1620G>C (p.Ala540=) rs375861433 0.00042
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375 0.00042
NM_014915.3(ANKRD26):c.4916G>A (p.Arg1639Gln) rs184369322 0.00042
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745 0.00042
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000124.4(ERCC6):c.1145A>G (p.Glu382Gly) rs56089364 0.00041
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_001061.7(TBXAS1):c.335C>T (p.Ala112Val) rs139976441 0.00041
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056 0.00041
NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His) rs148170326 0.00041
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_001384474.1(LOXHD1):c.5237T>C (p.Leu1746Pro) rs372241056 0.00041
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) rs192467838 0.00041
NM_002335.4(LRP5):c.2182A>T (p.Met728Leu) rs149241739 0.00041
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) rs145309168 0.00041
NM_004366.6(CLCN2):c.1969A>C (p.Thr657Pro) rs149827415 0.00041
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met) rs201131900 0.00041
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val) rs374355537 0.00041
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_006231.4(POLE):c.3881G>A (p.Arg1294His) rs115455318 0.00041
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His) rs139861061 0.00041
NM_007055.4(POLR3A):c.1910-13A>G rs375882550 0.00041
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_014704.4(CEP104):c.2621G>A (p.Arg874His) rs139076247 0.00041
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val) rs56261037 0.00041
NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter) rs769917929 0.00041
NM_020117.11(LARS1):c.1369C>T (p.Arg457Trp) rs151245897 0.00041
NM_020312.4(COQ9):c.26C>T (p.Ala9Val) rs536567108 0.00041
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val) rs143408155 0.00041
NM_020937.4(FANCM):c.4084G>A (p.Asp1362Asn) rs199895244 0.00041
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp) rs147903234 0.00041
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly) rs187140236 0.00041
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly) rs141214076 0.00041
NM_000029.4(AGT):c.127C>T (p.Leu43Phe) rs41271499 0.00040
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570 0.00040
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) rs144659635 0.00040
NM_001083961.2(WDR62):c.3058G>A (p.Ala1020Thr) rs144120866 0.00040
NM_001291303.3(FAT4):c.13460C>T (p.Ala4487Val) rs141234678 0.00040
NM_001292063.2(OTOG):c.4021C>T (p.Arg1341Trp) rs200215464 0.00040
NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn) rs200239326 0.00040
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433 0.00040
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) rs147948449 0.00040
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163 0.00040
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_016213.5(TRIP4):c.1165C>T (p.Pro389Ser) rs144077712 0.00040
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val) rs367750869 0.00040
NM_053025.4(MYLK):c.3653-10_3653-8del rs576620371 0.00040
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser) rs34447581 0.00040
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614 0.00039
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030 0.00039
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487 0.00039
NM_001031679.3(MSRB3):c.523G>A (p.Ala175Thr) rs200201418 0.00039
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn) rs141314684 0.00039
NM_001367624.2(ZNF469):c.2168G>C (p.Ser723Thr) rs777747160 0.00039
NM_001367624.2(ZNF469):c.3278A>G (p.Asp1093Gly) rs533979613 0.00039
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala) rs201804994 0.00039
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057 0.00039
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His) rs142328549 0.00039
NM_002335.4(LRP5):c.4511C>T (p.Pro1504Leu) rs201475647 0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_006005.3(WFS1):c.92C>G (p.Ala31Gly) rs550975729 0.00039
NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr) rs183061595 0.00039
NM_017946.4(FKBP14):c.568_570del (p.Lys190del) rs762279651 0.00039
NM_018896.5(CACNA1G):c.6710C>A (p.Pro2237His) rs200141555 0.00039
NM_022124.6(CDH23):c.2163C>T (p.Ile721=) rs192326086 0.00039
NM_152393.4(KLHL40):c.238G>C (p.Asp80His) rs144461124 0.00039
NM_178554.6(KY):c.988C>T (p.Pro330Ser) rs201201519 0.00039
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu) rs199626372 0.00038
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801 0.00038
NM_000213.5(ITGB4):c.1666C>T (p.Arg556Cys) rs150166497 0.00038
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674 0.00038
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400 0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp) rs200283315 0.00038
NM_001199799.2(ILDR1):c.686T>C (p.Leu229Pro) rs546168333 0.00038
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala) rs200257398 0.00038
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp) rs114613744 0.00038
NM_003737.4(DCHS1):c.5543C>G (p.Ala1848Gly) rs145373149 0.00038
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_006514.4(SCN10A):c.55G>A (p.Glu19Lys) rs141810266 0.00038
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_020442.6(VARS2):c.2980A>G (p.Ile994Val) rs201758263 0.00038
NM_020919.4(ALS2):c.1641G>A (p.Arg547=) rs34122078 0.00038
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280 0.00037
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp) rs144995033 0.00037
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) rs201515738 0.00037
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 0.00037
NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala) rs144966407 0.00037
NM_001943.5(DSG2):c.716T>C (p.Val239Ala) rs200997703 0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile) rs150306543 0.00037
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_005876.5(SPEG):c.1649C>T (p.Pro550Leu) rs747464249 0.00037
NM_020884.7(MYH7B):c.3440C>T (p.Ala1147Val) rs374221267 0.00037
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg) rs41313952 0.00037
NM_144997.7(FLCN):c.1201C>T (p.Arg401Cys) rs143183215 0.00037
NM_173076.3(ABCA12):c.2945A>C (p.Lys982Thr) rs142196906 0.00037
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052 0.00036
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His) rs781991817 0.00036
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413 0.00036
NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile) rs200359303 0.00036
NM_000384.3(APOB):c.4187T>C (p.Val1396Ala) rs144034290 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_001126108.2(SLC12A3):c.2363C>T (p.Ala788Val) rs147517227 0.00036
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His) rs115066564 0.00036
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr) rs144474773 0.00036
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 0.00036
NM_001142864.4(PIEZO1):c.6473A>G (p.Lys2158Arg) rs200506892 0.00036
NM_001184.4(ATR):c.4405A>G (p.Thr1469Ala) rs78895258 0.00036
NM_001291303.3(FAT4):c.12066C>T (p.Gly4022=) rs144476127 0.00036
NM_001355436.2(SPTB):c.4001C>T (p.Ala1334Val) rs113139501 0.00036
NM_001371986.1(UNC80):c.2534C>T (p.Thr845Ile) rs372195299 0.00036
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429 0.00036
NM_001393500.2(TOMT):c.596C>T (p.Ala199Val) rs540371915 0.00036
NM_001754.5(RUNX1):c.698G>A (p.Arg233His) rs150042294 0.00036
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His) rs149558726 0.00036
NM_003383.5(VLDLR):c.792C>T (p.Cys264=) rs141850403 0.00036
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_005199.5(CHRNG):c.507-12G>A rs184423691 0.00036
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630 0.00036
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr) rs201913959 0.00036
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu) rs139131485 0.00036
NM_017654.4(SAMD9):c.4673T>A (p.Leu1558Ter) rs150862618 0.00036
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu) rs150654176 0.00036
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) rs150890296 0.00036
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472 0.00036
NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val) rs149034301 0.00036
NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys) rs145825553 0.00036
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563 0.00036
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp) rs373680242 0.00036
NM_198129.4(LAMA3):c.5621T>C (p.Leu1874Ser) rs139348197 0.00036
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
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_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238 0.00035
NM_000233.4(LHCGR):c.430G>A (p.Val144Ile) rs121912539 0.00035
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637 0.00035
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) rs199874790 0.00035
NM_001291303.3(FAT4):c.5552C>T (p.Pro1851Leu) rs138655912 0.00035
NM_001365276.2(TNXB):c.9617A>G (p.Gln3206Arg) rs201902411 0.00035
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu) rs139859950 0.00035
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn) rs142816010 0.00035
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg) rs143264567 0.00035
NM_005228.5(EGFR):c.769G>A (p.Glu257Lys) rs138847501 0.00035
NM_005245.4(FAT1):c.10930G>A (p.Ala3644Thr) rs199663111 0.00035
NM_007374.3(SIX6):c.637C>T (p.Pro213Ser) rs201560655 0.00035
NM_014915.3(ANKRD26):c.2855A>C (p.Lys952Thr) rs564448342 0.00035
NM_020433.5(JPH2):c.1015G>A (p.Gly339Ser) rs368290474 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) rs140232809 0.00035
NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser) rs36086547 0.00035
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114 0.00035
NM_194248.3(OTOF):c.898-6C>G rs199687628 0.00035
NM_201525.4(ADGRG1):c.1356G>A (p.Thr452=) rs151020094 0.00035
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser) rs200840044 0.00034
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963 0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943 0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000384.3(APOB):c.11720A>G (p.Asp3907Gly) rs61746686 0.00034
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997 0.00034
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_001042545.2(LTBP4):c.3338G>A (p.Arg1113His) rs199887429 0.00034
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) rs41276445 0.00034
NM_001145809.2(MYH14):c.2233-13C>A rs368249273 0.00034
NM_001291303.3(FAT4):c.10570C>T (p.Arg3524Trp) rs145569482 0.00034
NM_001291303.3(FAT4):c.5054G>A (p.Arg1685Gln) rs376422522 0.00034
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser) rs199945338 0.00034
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly) rs140223281 0.00034
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His) rs139846706 0.00034
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236 0.00034
NM_004092.4(ECHS1):c.519G>A (p.Ala173=) rs140262395 0.00034
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys) rs113967308 0.00034
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) rs113998091 0.00034
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=) rs144092577 0.00034
NM_014208.3(DSPP):c.85G>A (p.Glu29Lys) rs200641947 0.00034
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys) rs112122950 0.00034
NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln) rs140373332 0.00034
NM_018942.3(HMX1):c.964G>C (p.Gly322Arg) rs763505877 0.00034
NM_021870.3(FGG):c.124G>A (p.Gly42Ser) rs202132393 0.00034
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His) rs374156784 0.00034
NM_024996.7(GFM1):c.2143A>G (p.Met715Val) rs147620098 0.00034
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg) rs190988309 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_032620.4(GTPBP3):c.565C>T (p.Arg189Cys) rs141865220 0.00034
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510 0.00033
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754 0.00033
NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser) rs201629800 0.00033
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) rs142435467 0.00033
NM_001291303.3(FAT4):c.4432A>C (p.Ile1478Leu) rs200565115 0.00033
NM_001291303.3(FAT4):c.5597C>T (p.Thr1866Met) rs141773516 0.00033
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser) rs547173007 0.00033
NM_001292063.2(OTOG):c.7742C>T (p.Ala2581Val) rs114417076 0.00033
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro) rs185469456 0.00033
NM_002336.3(LRP6):c.3380A>G (p.Glu1127Gly) rs560813860 0.00033
NM_002427.4(MMP13):c.509A>C (p.Lys170Thr) rs145243532 0.00033
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00033
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys) rs140950898 0.00033
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser) rs138843691 0.00033
NM_006514.4(SCN10A):c.472T>G (p.Tyr158Asp) rs202192818 0.00033
NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln) rs201955990 0.00033
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521 0.00033
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys) rs368682932 0.00033
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser) rs146693681 0.00033
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys) rs146661281 0.00033
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00033
NM_177402.5(SYT2):c.71T>C (p.Ile24Thr) rs199582045 0.00033
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser) rs200496467 0.00033
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 0.00032
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332 0.00032
NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter) rs200758965 0.00032
NM_001367624.2(ZNF469):c.216G>T (p.Glu72Asp) rs543285355 0.00032
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr) rs201540905 0.00032
NM_001367624.2(ZNF469):c.7321C>T (p.Pro2441Ser) rs546137802 0.00032
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile) rs200568988 0.00032
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00032
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu) rs377716628 0.00032
NM_002473.6(MYH9):c.3943-7C>A rs376396278 0.00032
NM_004982.4(KCNJ8):c.1036G>A (p.Val346Ile) rs147316959 0.00032
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys) rs147657490 0.00032
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg) rs141233896 0.00032
NM_006514.4(SCN10A):c.1858G>A (p.Val620Ile) rs151303346 0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_016222.4(DDX41):c.6G>T (p.Glu2Asp) rs138435584 0.00032
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn) rs199899548 0.00032
NM_016343.4(CENPF):c.2595A>C (p.Glu865Asp) rs142993088 0.00032
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_032380.5(GFM2):c.2213G>A (p.Gly738Asp) rs139901493 0.00032
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly) rs149866482 0.00032
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499 0.00031
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525 0.00031
NM_000085.5(CLCNKB):c.172G>T (p.Val58Leu) rs144043939 0.00031
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305 0.00031
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly) rs149984626 0.00031
NM_001013693.3(LDLRAD2):c.*1278C>T rs376645617 0.00031
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr) rs148615988 0.00031
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693 0.00031
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly) rs142067039 0.00031
NM_001363711.2(DUOX2):c.4027C>T (p.Leu1343Phe) rs147945181 0.00031
NM_001378183.1(PIEZO2):c.4250A>G (p.Lys1417Arg) rs749257673 0.00031
NM_001457.4(FLNB):c.4903G>A (p.Gly1635Ser) rs139046903 0.00031
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu) rs138583508 0.00031
NM_001853.4(COL9A3):c.779C>T (p.Ala260Val) rs147134081 0.00031
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn) rs143663917 0.00031
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) rs142654744 0.00031
NM_002529.4(NTRK1):c.482G>A (p.Arg161His) rs150271893 0.00031
NM_003737.4(DCHS1):c.9269A>T (p.Tyr3090Phe) rs201094018 0.00031
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu) rs149764887 0.00031
NM_004970.3(IGFALS):c.634G>A (p.Ala212Thr) rs368097770 0.00031
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) rs145677667 0.00031
NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg) rs141758463 0.00031
NM_006514.4(SCN10A):c.179G>A (p.Cys60Tyr) rs145900411 0.00031
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00031
NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr) rs144078604 0.00031
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala) rs142951316 0.00031
NM_014908.4(DOLK):c.1394G>A (p.Arg465His) rs148930043 0.00031
NM_014915.3(ANKRD26):c.599A>G (p.Lys200Arg) rs150623081 0.00031
NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile) rs147587391 0.00031
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_152268.4(PARS2):c.1075G>T (p.Asp359Tyr) rs192469262 0.00031
NM_174934.4(SCN4B):c.607G>A (p.Val203Met) rs150312046 0.00031
NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile) rs149775261 0.00031
NM_000260.4(MYO7A):c.731G>A (p.Arg244His) rs121965081 0.00030
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_001039141.3(TRIOBP):c.5274G>A (p.Thr1758=) rs370386947 0.00030
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) rs200181804 0.00030
NM_001291303.3(FAT4):c.6731C>T (p.Thr2244Met) rs145342353 0.00030
NM_001854.4(COL11A1):c.1169A>G (p.Glu390Gly) rs139480042 0.00030
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_006514.4(SCN10A):c.2428G>T (p.Gly810Trp) rs145712124 0.00030
NM_138477.4(CDAN1):c.3204+5G>A rs201125492 0.00030
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu) rs143068551 0.00030
NM_182943.3(PLOD2):c.1744-11A>G rs376704588 0.00030
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=) rs150121030 0.00030
NM_194248.3(OTOF):c.1135G>A (p.Val379Met) rs141111646 0.00030
NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln) rs371290504 0.00030
NM_201525.4(ADGRG1):c.214C>T (p.Pro72Ser) rs144561715 0.00030
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696 0.00029
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513 0.00029
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu) rs75086141 0.00029
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met) rs139250920 0.00029
NM_000384.3(APOB):c.914A>G (p.Lys305Arg) rs199937544 0.00029
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=) rs200780880 0.00029
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr) rs200865354 0.00029
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr) rs374500158 0.00029
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927 0.00029
NM_001145809.2(MYH14):c.5452C>T (p.Arg1818Cys) rs377096949 0.00029
NM_001145809.2(MYH14):c.5599C>T (p.Arg1867Cys) rs187789045 0.00029
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln) rs148405740 0.00029
NM_001148.6(ANK2):c.9825T>G (p.Asp3275Glu) rs149043752 0.00029
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374 0.00029
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) rs28989183 0.00029
NM_001242957.3(MAK):c.1819C>T (p.Arg607Trp) rs199594233 0.00029
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His) rs138946894 0.00029
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met) rs77086616 0.00029
NM_001292063.2(OTOG):c.6536T>C (p.Val2179Ala) rs770039471 0.00029
NM_001367624.2(ZNF469):c.845G>A (p.Gly282Glu) rs757999676 0.00029
NM_001384732.1(CPLANE1):c.5447G>A (p.Cys1816Tyr) rs138639220 0.00029
NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn) rs145785230 0.00029
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys) rs141825151 0.00029
NM_001853.4(COL9A3):c.1258C>G (p.Gln420Glu) rs138648117 0.00029
NM_002471.4(MYH6):c.5410C>A (p.Gln1804Lys) rs144571463 0.00029
NM_002528.7(NTHL1):c.74G>A (p.Arg25Lys) rs2302172 0.00029
NM_002691.4(POLD1):c.3219-19C>A rs374168125 0.00029
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys) rs201392536 0.00029
NM_004260.4(RECQL4):c.2260C>T (p.Arg754Trp) rs193024188 0.00029
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val) rs199767035 0.00029
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp) rs147675550 0.00029
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00029
NM_005993.5(TBCD):c.2638A>T (p.Met880Leu) rs199972447 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006059.4(LAMC3):c.4415G>A (p.Arg1472Gln) rs137894550 0.00029
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr) rs200713724 0.00029
NM_014208.3(DSPP):c.777T>C (p.Ser259=) rs377300383 0.00029
NM_016239.4(MYO15A):c.2045C>T (p.Pro682Leu) rs993096170 0.00029
NM_017433.5(MYO3A):c.426T>G (p.His142Gln) rs189595832 0.00029
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00029
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123 0.00029
NM_022114.4(PRDM16):c.2281G>A (p.Ala761Thr) rs200947814 0.00029
NM_022458.4(LMBR1):c.423+4545T>C rs376183960 0.00029
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_033109.5(PNPT1):c.1099C>T (p.Leu367Phe) rs142840568 0.00029
NM_173500.4(TTBK2):c.245G>C (p.Gly82Ala) rs200821440 0.00029
NM_174936.4(PCSK9):c.399+4A>G rs376653409 0.00029
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338 0.00029
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=) rs370168097 0.00029
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_000233.4(LHCGR):c.561A>G (p.Glu187=) rs369601921 0.00028
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669 0.00028
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) rs372768607 0.00028
NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys) rs145133167 0.00028
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001105206.3(LAMA4):c.4436G>A (p.Arg1479His) rs140346737 0.00028
NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg) rs780953179 0.00028
NM_001148.6(ANK2):c.1910C>T (p.Ala637Val) rs150488571 0.00028
NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr) rs144011305 0.00028
NM_001374504.1(TMPRSS6):c.361C>T (p.Arg121Cys) rs145073875 0.00028
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser) rs138503916 0.00028
NM_001853.4(COL9A3):c.1756A>C (p.Thr586Pro) rs145821912 0.00028
NM_002439.5(MSH3):c.2262A>G (p.Ile754Met) rs200819607 0.00028
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val) rs148893135 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_006420.3(ARFGEF2):c.2686-16C>A rs370562126 0.00028
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) rs764407421 0.00028
NM_006947.4(SRP72):c.406G>A (p.Val136Ile) rs145817936 0.00028
NM_007215.4(POLG2):c.590T>C (p.Leu197Pro) rs139282177 0.00028
NM_016239.4(MYO15A):c.4096G>A (p.Asp1366Asn) rs368603235 0.00028
NM_020778.5(ALPK3):c.1738G>A (p.Gly580Arg) rs143892088 0.00028
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg) rs201948472 0.00028
NM_144573.4(NEXN):c.242A>T (p.Asp81Val) rs367871780 0.00028
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00028
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His) rs142909885 0.00028
NM_206933.4(USH2A):c.5131G>A (p.Ala1711Thr) rs535796173 0.00028
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val) rs143352618 0.00028
NM_000113.3(TOR1A):c.361G>A (p.Glu121Lys) rs199535970 0.00027
NM_000260.4(MYO7A):c.758A>G (p.His253Arg) rs375200566 0.00027
NM_000384.3(APOB):c.9883T>C (p.Tyr3295His) rs186299244 0.00027
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812 0.00027
NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly) rs138438183 0.00027
NM_001457.4(FLNB):c.6193G>A (p.Val2065Met) rs371167931 0.00027
NM_001853.4(COL9A3):c.1563C>T (p.Ser521=) rs144292707 0.00027
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly) rs145508517 0.00027
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr) rs149569984 0.00027
NM_004525.3(LRP2):c.10880G>T (p.Ser3627Ile) rs138660534 0.00027
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612 0.00027
NM_014049.5(ACAD9):c.1666A>G (p.Ile556Val) rs374356084 0.00027
NM_014915.3(ANKRD26):c.1970A>T (p.Asp657Val) rs193178384 0.00027
NM_020207.7(ERCC6L2):c.379C>G (p.Gln127Glu) rs146075543 0.00027
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968 0.00027
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) rs201610096 0.00027
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg) rs200212083 0.00027
NM_144687.4(NLRP12):c.779C>T (p.Thr260Met) rs150280940 0.00027
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577 0.00027
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu) rs146623472 0.00026
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile) rs200044988 0.00026
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp) rs142059751 0.00026
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668 0.00026
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr) rs146304983 0.00026
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691 0.00026
NM_000539.3(RHO):c.919A>T (p.Ile307Phe) rs771322615 0.00026
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala) rs144651139 0.00026
NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser) rs776091285 0.00026
NM_001130004.2(ACTN1):c.2612G>A (p.Arg871His) rs371440985 0.00026
NM_001202.6(BMP4):c.124G>C (p.Ala42Pro) rs140920120 0.00026
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val) rs199804623 0.00026
NM_001367624.2(ZNF469):c.812T>C (p.Val271Ala) rs985569633 0.00026
NM_001378452.1(ITPR1):c.5083G>A (p.Asp1695Asn) rs371186107 0.00026
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607 0.00026
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_001953.5(TYMP):c.676G>A (p.Gly226Arg) rs200497106 0.00026
NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu) rs200624778 0.00026
NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys) rs149560153 0.00026
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) rs182216426 0.00026
NM_004046.6(ATP5F1A):c.248G>A (p.Arg83His) rs146467617 0.00026
NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu) rs3729754 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005422.4(TECTA):c.3791A>G (p.Asn1264Ser) rs200871280 0.00026
NM_005559.4(LAMA1):c.1796C>T (p.Thr599Met) rs148234507 0.00026
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_005732.4(RAD50):c.2288G>A (p.Arg763His) rs141989813 0.00026
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_014208.3(DSPP):c.1024G>A (p.Glu342Lys) rs201404949 0.00026
NM_017433.5(MYO3A):c.4045G>C (p.Ala1349Pro) rs149521185 0.00026
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_021830.5(TWNK):c.689G>T (p.Gly230Val) rs142978552 0.00026
NM_022114.4(PRDM16):c.1882G>A (p.Asp628Asn) rs199895459 0.00026
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln) rs199508694 0.00026
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382 0.00026
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) rs139932041 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_032229.3(SLITRK6):c.1055T>C (p.Ile352Thr) rs199516562 0.00026
NM_032578.4(MYPN):c.3818C>T (p.Pro1273Leu) rs148942084 0.00026
NM_033109.5(PNPT1):c.1795T>A (p.Ser599Thr) rs147375807 0.00026
NM_033343.4(LHX4):c.37G>A (p.Val13Ile) rs146664099 0.00026
NM_052867.4(NALCN):c.2242G>A (p.Ala748Thr) rs77946954 0.00026
NM_080473.5(GATA5):c.1088A>G (p.Lys363Arg) rs140317494 0.00026
NM_080680.3(COL11A2):c.1636C>G (p.Arg546Gly) rs149697159 0.00026
NM_080680.3(COL11A2):c.434C>G (p.Ala145Gly) rs138305560 0.00026
NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met) rs570708095 0.00026
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp) rs201215628 0.00026
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln) rs370042988 0.00026
NM_153365.3(TAPT1):c.207A>G (p.Ser69=) rs181652196 0.00026
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile) rs146047560 0.00026
NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp) rs144259658 0.00026
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val) rs138326802 0.00026
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys) rs150280500 0.00026
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295 0.00025
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp) rs121918729 0.00025
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00025
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_001077653.2(TBX20):c.414G>A (p.Ser138=) rs144597480 0.00025
NM_001134363.3(RBM20):c.1807G>A (p.Gly603Arg) rs558674954 0.00025
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001202.6(BMP4):c.676C>T (p.Arg226Trp) rs140590144 0.00025
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180 0.00025
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387 0.00025
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln) rs148938946 0.00025
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser) rs201676898 0.00025
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu) rs140463309 0.00025
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766 0.00025
NM_005732.4(RAD50):c.2177G>A (p.Arg726His) rs28903092 0.00025
NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln) rs144253015 0.00025
NM_006005.3(WFS1):c.772G>A (p.Val258Ile) rs757414862 0.00025
NM_006767.4(LZTR1):c.1939A>G (p.Ile647Val) rs148916790 0.00025
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys) rs369339903 0.00025
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_018451.5(CENPJ):c.3305A>G (p.Asn1102Ser) rs41300592 0.00025
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_020738.4(KIDINS220):c.1934C>T (p.Thr645Ile) rs185330217 0.00025
NM_024753.5(TTC21B):c.960C>G (p.Asn320Lys) rs148866170 0.00025
NM_032119.4(ADGRV1):c.13186G>A (p.Ala4396Thr) rs201154290 0.00025
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307 0.00025
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg) rs148758903 0.00025
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765 0.00025
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys) rs147392278 0.00024
NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu) rs201198284 0.00024
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu) rs373975901 0.00024
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000095.3(COMP):c.700C>T (p.Pro234Ser) rs557483957 0.00024
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu) rs115876786 0.00024
NM_000219.6(KCNE1):c.206A>G (p.Lys69Arg) rs149338401 0.00024
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) rs148498577 0.00024
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00024
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887 0.00024
NM_001039876.3(SYNE4):c.625G>A (p.Glu209Lys) rs149470089 0.00024
NM_001040436.3(YARS2):c.928C>T (p.Pro310Ser) rs199885274 0.00024
NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys) rs146482011 0.00024
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr) rs199527708 0.00024
NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala) rs142853738 0.00024
NM_001363711.2(DUOX2):c.2725C>T (p.Arg909Trp) rs150698607 0.00024
NM_001365276.2(TNXB):c.8432G>A (p.Arg2811Gln) rs200522966 0.00024
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp) rs201826412 0.00024
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu) rs200797401 0.00024
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175 0.00024
NM_002335.4(LRP5):c.1738G>A (p.Val580Ile) rs149524398 0.00024
NM_002473.6(MYH9):c.2591C>T (p.Ala864Val) rs142467329 0.00024
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met) rs117497341 0.00024
NM_003105.6(SORL1):c.4360C>T (p.Pro1454Ser) rs201304369 0.00024
NM_003737.4(DCHS1):c.9797C>T (p.Pro3266Leu) rs61735331 0.00024
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile) rs377156351 0.00024
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser) rs137860861 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met) rs201070853 0.00024
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257 0.00024
NM_014915.3(ANKRD26):c.3761A>G (p.Asp1254Gly) rs368705077 0.00024
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_015599.3(PGM3):c.1085A>T (p.Glu362Val) rs34238319 0.00024
NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn) rs199605881 0.00024
NM_016341.4(PLCE1):c.1295C>G (p.Ala432Gly) rs200380935 0.00024
NM_017547.4(FOXRED1):c.1252C>G (p.Gln418Glu) rs201261500 0.00024
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519 0.00024
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) rs372367313 0.00024
NM_024334.3(TMEM43):c.564C>T (p.Gly188=) rs143124744 0.00024
NM_024407.5(NDUFS7):c.456-16G>A rs370241999 0.00024
NM_025009.5(CEP135):c.142C>T (p.Arg48Trp) rs202084972 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_032634.4(PIGO):c.794G>A (p.Arg265His) rs200924324 0.00024
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp) rs149071920 0.00024
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly) rs149693840 0.00024
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_194248.3(OTOF):c.5083G>A (p.Asp1695Asn) rs144422709 0.00024
NM_203446.3(SYNJ1):c.2874+5G>A rs371765751 0.00024
NM_000091.5(COL4A3):c.532G>A (p.Ala178Thr) rs188324379 0.00023
NM_000143.4(FH):c.4T>C (p.Tyr2His) rs112335468 0.00023
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu) rs199473436 0.00023
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) rs369539923 0.00023
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala) rs149455643 0.00023
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn) rs202020477 0.00023
NM_001148.6(ANK2):c.10703G>A (p.Arg3568Gln) rs142612379 0.00023
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_001148.6(ANK2):c.9424A>C (p.Thr3142Pro) rs374350634 0.00023
NM_001235.5(SERPINH1):c.293G>A (p.Ser98Asn) rs541595707 0.00023
NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr) rs145733370 0.00023
NM_001291303.3(FAT4):c.7196T>C (p.Ile2399Thr) rs140285782 0.00023
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro) rs778687487 0.00023
NM_001378452.1(ITPR1):c.532A>G (p.Ile178Val) rs188477537 0.00023
NM_001378452.1(ITPR1):c.5365G>A (p.Gly1789Arg) rs373359869 0.00023
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585 0.00023
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782 0.00023
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp) rs201396764 0.00023
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr) rs527738649 0.00023
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866 0.00023
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_006231.4(POLE):c.761C>T (p.Pro254Leu) rs200211438 0.00023
NM_015340.4(LARS2):c.338G>A (p.Arg113Gln) rs138437422 0.00023
NM_016169.4(SUFU):c.50C>T (p.Ala17Val) rs12780580 0.00023
NM_017654.4(SAMD9):c.1880del (p.Ser627fs) rs767270627 0.00023
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile) rs145272328 0.00023
NM_020778.5(ALPK3):c.2674G>A (p.Gly892Arg) rs145983200 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_024996.7(GFM1):c.373G>A (p.Val125Met) rs200923387 0.00023
NM_052867.4(NALCN):c.722C>T (p.Pro241Leu) rs764444847 0.00023
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_183357.3(ADCY5):c.2645C>T (p.Ala882Val) rs112913957 0.00023
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499 0.00023
NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln) rs144366005 0.00023
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr) rs201665434 0.00022
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461 0.00022
NM_000143.4(FH):c.1237-7C>T rs376260223 0.00022
NM_000143.4(FH):c.7C>G (p.Arg3Gly) rs202166344 0.00022
NM_000157.4(GBA1):c.1224G>A (p.Thr408=) rs138498426 0.00022
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=) rs185748200 0.00022
NM_000540.3(RYR1):c.548C>T (p.Thr183Ile) rs150038701 0.00022
NM_000550.3(TYRP1):c.1138G>T (p.Ala380Ser) rs184910238 0.00022
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile) rs545321215 0.00022
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067 0.00022
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg) rs201154998 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00022
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr) rs183839621 0.00022
NM_001379451.1(BCORL1):c.2669G>A (p.Arg890Gln) rs201843717 0.00022
NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp) rs773943113 0.00022
NM_001457.4(FLNB):c.3052G>A (p.Val1018Met) rs2276742 0.00022
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429 0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002439.5(MSH3):c.2438A>G (p.Lys813Arg) rs150446804 0.00022
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys) rs201193346 0.00022
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_002887.4(RARS1):c.1465G>A (p.Glu489Lys) rs11557638 0.00022
NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn) rs786205841 0.00022
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met) rs139158022 0.00022
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_006231.4(POLE):c.1184G>A (p.Gly395Glu) rs546499094 0.00022
NM_006514.4(SCN10A):c.1163T>C (p.Leu388Pro) rs199734710 0.00022
NM_006514.4(SCN10A):c.1370A>G (p.Glu457Gly) rs766017851 0.00022
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750 0.00022
NM_014000.3(VCL):c.787A>T (p.Thr263Ser) rs142233726 0.00022
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu) rs143155251 0.00022
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr) rs201299216 0.00022
NM_017636.4(TRPM4):c.1119C>A (p.Phe373Leu) rs141531245 0.00022
NM_020247.5(COQ8A):c.1900G>A (p.Glu634Lys) rs149335528 0.00022
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile) rs369697366 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_030773.4(TUBB1):c.578T>C (p.Ile193Thr) rs141698221 0.00022
NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp) rs200189331 0.00022
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385 0.00022
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) rs375921325 0.00022
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln) rs142157418 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_054027.6(ANKH):c.1042G>A (p.Val348Met) rs148228793 0.00022
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe) rs200243596 0.00022
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00022
NM_153676.4(USH1C):c.2039C>A (p.Pro680Gln) rs187147906 0.00022
NM_170682.4(P2RX2):c.381+2T>C rs200978001 0.00022
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu) rs376494248 0.00021
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala) rs200765341 0.00021
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743 0.00021
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000143.4(FH):c.1303G>A (p.Val435Met) rs147528200 0.00021
NM_000179.3(MSH6):c.*49_*68dup rs777409019 0.00021
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021 0.00021
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val) rs199473192 0.00021
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr) rs201736972 0.00021
NM_000428.3(LTBP2):c.2657C>A (p.Thr886Lys) rs201591982 0.00021
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu) rs367890377 0.00021
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe) rs542973906 0.00021
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg) rs200121281 0.00021
NM_001039876.3(SYNE4):c.1127C>T (p.Ala376Val) rs199938988 0.00021
NM_001042545.2(LTBP4):c.3610G>A (p.Val1204Met) rs200036888 0.00021
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu) rs747400815 0.00021
NM_001184.4(ATR):c.483A>G (p.Arg161=) rs182268224 0.00021
NM_001278716.2(FBXL4):c.541A>G (p.Thr181Ala) rs150748757 0.00021
NM_001291303.3(FAT4):c.829G>A (p.Ala277Thr) rs183191959 0.00021
NM_001367624.2(ZNF469):c.9850G>A (p.Gly3284Arg) rs773064083 0.00021
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00021
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438 0.00021
NM_001384732.1(CPLANE1):c.3131G>A (p.Arg1044His) rs779754977 0.00021
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_001853.4(COL9A3):c.1708T>C (p.Ser570Pro) rs199886210 0.00021
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser) rs367824632 0.00021
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) rs376051686 0.00021
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln) rs199783239 0.00021
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802 0.00021
NM_003673.4(TCAP):c.458G>A (p.Arg153His) rs149585781 0.00021
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
NM_004525.3(LRP2):c.230A>T (p.Glu77Val) rs200113428 0.00021
NM_004525.3(LRP2):c.6130G>A (p.Ala2044Thr) rs142266106 0.00021
NM_004553.6(NDUFS6):c.198C>T (p.Asn66=) rs140887831 0.00021
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro) rs141616288 0.00021
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) rs201701647 0.00021
NM_006383.4(CIB2):c.366C>T (p.Phe122=) rs374836619 0.00021
NM_006393.3(NEBL):c.82-4A>G rs368268112 0.00021
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_006514.4(SCN10A):c.4552G>A (p.Val1518Ile) rs202040659 0.00021
NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr) rs140288103 0.00021
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His) rs139031749 0.00021
NM_007208.4(MRPL3):c.985C>T (p.Pro329Ser) rs145183319 0.00021
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=) rs201026034 0.00021
NM_016239.4(MYO15A):c.8768G>A (p.Arg2923Gln) rs761180573 0.00021
NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys) rs144208673 0.00021
NM_017654.4(SAMD9):c.4417C>T (p.Arg1473Cys) rs145665736 0.00021
NM_017662.5(TRPM6):c.499G>T (p.Ala167Ser) rs141014694 0.00021
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg) rs146897650 0.00021
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395 0.00021
NM_022124.6(CDH23):c.551G>A (p.Arg184His) rs201132251 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_024876.4(COQ8B):c.1364A>G (p.Tyr455Cys) rs144343899 0.00021
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672 0.00021
NM_032578.4(MYPN):c.952G>A (p.Val318Ile) rs112518450 0.00021
NM_052867.4(NALCN):c.3058-11A>G rs201506269 0.00021
NM_078470.6(COX15):c.664C>T (p.Arg222Cys) rs2231682 0.00021
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp) rs189036094 0.00021
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser) rs200831684 0.00021
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys) rs367937691 0.00021
NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser) rs141020107 0.00021
NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu) rs149979176 0.00021
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172 0.00020
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu) rs145068043 0.00020
NM_000124.4(ERCC6):c.1801G>A (p.Gly601Ser) rs138758064 0.00020
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740 0.00020
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr) rs200261177 0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr) rs77131926 0.00020
NM_001080442.3(SLC38A8):c.389-9C>G rs376444481 0.00020
NM_001097577.3(ANG):c.3G>A (p.Met1Ile) rs201068740 0.00020
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe) rs397516733 0.00020
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=) rs375542454 0.00020
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu) rs749285793 0.00020
NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln) rs142510905 0.00020
NM_001286577.2(C2CD3):c.2663G>A (p.Arg888Gln) rs143196767 0.00020
NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp) rs201859188 0.00020
NM_001292063.2(OTOG):c.3751G>A (p.Gly1251Ser) rs769211682 0.00020
NM_001354604.2(MITF):c.316C>T (p.Leu106Phe) rs371080525 0.00020
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser) rs775431837 0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr) rs377360750 0.00020
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser) rs188528174 0.00020
NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu) rs144860423 0.00020
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser) rs140776586 0.00020
NM_005422.4(TECTA):c.2544G>A (p.Leu848=) rs144582229 0.00020
NM_005732.4(RAD50):c.2525T>C (p.Val842Ala) rs28903093 0.00020
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) rs115558715 0.00020
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) rs200705273 0.00020
NM_006946.4(SPTBN2):c.4374G>T (p.Glu1458Asp) rs142378119 0.00020
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe) rs369588942 0.00020
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln) rs200781310 0.00020
NM_017433.5(MYO3A):c.4073G>A (p.Arg1358Gln) rs141903506 0.00020
NM_017757.3(ZNF407):c.4010A>G (p.Tyr1337Cys) rs760492866 0.00020
NM_018685.5(ANLN):c.1545G>A (p.Thr515=) rs139579665 0.00020
NM_020754.4(ARHGAP31):c.3463T>C (p.Trp1155Arg) rs369750406 0.00020
NM_020937.4(FANCM):c.2267G>A (p.Arg756His) rs142763060 0.00020
NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln) rs186990940 0.00020
NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met) rs147732725 0.00020
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397 0.00020
NM_198578.4(LRRK2):c.2769G>C (p.Gln923His) rs58559150 0.00020
NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys) rs200576852 0.00020
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala) rs144817385 0.00020
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 0.00019
NM_000069.3(CACNA1S):c.3256-12T>A rs374335683 0.00019
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 0.00019
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988 0.00019
NM_000260.4(MYO7A):c.3955G>A (p.Val1319Ile) rs200483708 0.00019
NM_000260.4(MYO7A):c.904C>T (p.Arg302Cys) rs781922871 0.00019
NM_000260.4(MYO7A):c.970G>T (p.Ala324Ser) rs376348438 0.00019
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys) rs148066812 0.00019
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val) rs142702699 0.00019
NM_000384.3(APOB):c.4532C>T (p.Thr1511Ile) rs146247063 0.00019
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 0.00019
NM_000540.3(RYR1):c.2933C>T (p.Pro978Leu) rs200124278 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_000540.3(RYR1):c.9886C>G (p.Leu3296Val) rs368433841 0.00019
NM_000540.3(RYR1):c.9896G>T (p.Gly3299Val) rs376790408 0.00019
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00019
NM_001042545.2(LTBP4):c.2239G>A (p.Gly747Ser) rs371314855 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) rs142534126 0.00019
NM_001148.6(ANK2):c.7265G>A (p.Ser2422Asn) rs140341680 0.00019
NM_001148.6(ANK2):c.8463C>A (p.Asp2821Glu) rs780668435 0.00019
NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr) rs374200686 0.00019
NM_001206999.2(CIT):c.232C>T (p.Arg78Trp) rs186505065 0.00019
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295 0.00019
NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile) rs372778818 0.00019
NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His) rs137914057 0.00019
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro) rs876657936 0.00019
NM_001352754.2(ARMC9):c.1964C>T (p.Thr655Ile) rs202164814 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_001367624.2(ZNF469):c.5449C>G (p.Leu1817Val) rs559099409 0.00019
NM_001367624.2(ZNF469):c.5675G>A (p.Arg1892Lys) rs528085780 0.00019
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg) rs766410344 0.00019
NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala) rs1455234951 0.00019
NM_001378183.1(PIEZO2):c.1240-5G>A rs373971761 0.00019
NM_001378183.1(PIEZO2):c.5897G>A (p.Arg1966His) rs373973800 0.00019
NM_001378183.1(PIEZO2):c.947C>A (p.Thr316Lys) rs374993280 0.00019
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172 0.00019
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser) rs192863498 0.00019
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr) rs367656336 0.00019
NM_001378609.3(OTOGL):c.1823G>A (p.Ser608Asn) rs202156673 0.00019
NM_001378609.3(OTOGL):c.3786C>G (p.Phe1262Leu) rs199807709 0.00019
NM_001384140.1(PCDH15):c.4672-1564T>C rs193186244 0.00019
NM_001384732.1(CPLANE1):c.7883A>T (p.Glu2628Val) rs200930248 0.00019
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394 0.00019
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met) rs147559634 0.00019
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) rs201327273 0.00019
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala) rs150354113 0.00019
NM_003737.4(DCHS1):c.8302C>T (p.Arg2768Cys) rs368211314 0.00019
NM_004174.4(SLC9A3):c.755-11C>T rs139270058 0.00019
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe) rs764692193 0.00019
NM_004525.3(LRP2):c.12958A>G (p.Ile4320Val) rs141452561 0.00019
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) rs117134265 0.00019
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala) rs34574788 0.00019
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378 0.00019
NM_004621.6(TRPC6):c.75C>T (p.Arg25=) rs201051533 0.00019
NM_004793.4(LONP1):c.1925C>T (p.Thr642Met) rs371606894 0.00019
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=) rs141675065 0.00019
NM_006005.3(WFS1):c.1695C>T (p.Leu565=) rs755736687 0.00019
NM_006514.4(SCN10A):c.1118A>G (p.Tyr373Cys) rs147835034 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584 0.00019
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val) rs150266349 0.00019
NM_014704.4(CEP104):c.2182A>G (p.Asn728Asp) rs144805659 0.00019
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln) rs140234726 0.00019
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033 0.00019
NM_015450.3(POT1):c.64A>G (p.Ile22Val) rs375440229 0.00019
NM_017636.4(TRPM4):c.1082T>G (p.Leu361Arg) rs148763371 0.00019
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) rs139197513 0.00019
NM_018713.3(SLC30A10):c.269C>T (p.Thr90Ile) rs554675480 0.00019
NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp) rs140202346 0.00019
NM_019098.5(CNGB3):c.2410A>T (p.Lys804Ter) rs151039691 0.00019
NM_020778.5(ALPK3):c.1691C>T (p.Ser564Leu) rs200540710 0.00019
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp) rs200969981 0.00019
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser) rs150313156 0.00019
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys) rs146526977 0.00019
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00019
NM_152464.3(TMEM199):c.36G>A (p.Val12=) rs781939580 0.00019
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys) rs202152674 0.00019
NM_206933.4(USH2A):c.5266G>A (p.Val1756Ile) rs143208990 0.00019
NM_206933.4(USH2A):c.5608C>T (p.Arg1870Trp) rs144768593 0.00019
NM_000038.6(APC):c.6637A>G (p.Met2213Val) rs186926737 0.00018
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095 0.00018
NM_000094.4(COL7A1):c.2146A>G (p.Arg716Gly) rs143040168 0.00018
NM_000143.4(FH):c.883G>A (p.Ala295Thr) rs145843819 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574 0.00018
NM_001103.4(ACTN2):c.2677G>A (p.Asp893Asn) rs142646143 0.00018
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121 0.00018
NM_001148.6(ANK2):c.2836C>T (p.Arg946Cys) rs200524407 0.00018
NM_001148.6(ANK2):c.8116G>C (p.Glu2706Gln) rs142652341 0.00018
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr) rs138928206 0.00018
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=) rs143562140 0.00018
NM_001292063.2(OTOG):c.93C>T (p.Leu31=) rs776961395 0.00018
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542 0.00018
NM_001349206.2(LPIN1):c.854C>A (p.Thr285Lys) rs141555457 0.00018
NM_001375808.2(LPIN2):c.1132C>T (p.Pro378Ser) rs201678207 0.00018
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser) rs145159429 0.00018
NM_001854.4(COL11A1):c.5132C>T (p.Thr1711Ile) rs139920081 0.00018
NM_002230.4(JUP):c.1582G>A (p.Val528Ile) rs368271628 0.00018
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_003235.5(TG):c.4638C>T (p.Gly1546=) rs116663504 0.00018
NM_004517.4(ILK):c.707A>G (p.Asn236Ser) rs145571020 0.00018
NM_004655.4(AXIN2):c.1829G>A (p.Arg610Gln) rs376248072 0.00018
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) rs149862950 0.00018
NM_006059.4(LAMC3):c.2390C>T (p.Pro797Leu) rs150965854 0.00018
NM_006231.4(POLE):c.1597G>A (p.Val533Met) rs374140892 0.00018
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu) rs373768478 0.00018
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala) rs146627706 0.00018
NM_016360.4(TACO1):c.451G>A (p.Glu151Lys) rs139687237 0.00018
NM_017849.4(TMEM127):c.136A>G (p.Thr46Ala) rs144659242 0.00018
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_021252.5(RAB18):c.148A>G (p.Ile50Val) rs148786103 0.00018
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val) rs367990772 0.00018
NM_130837.3(OPA1):c.1700T>C (p.Ile567Thr) rs148834015 0.00018
NM_176787.5(PIGN):c.253A>G (p.Ile85Val) rs202066215 0.00018
NM_177438.3(DICER1):c.4819C>T (p.Arg1607Trp) rs189119295 0.00018
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu) rs138344683 0.00018
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile) rs147532612 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00017
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro) rs576536458 0.00017
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser) rs41317144 0.00017
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00017
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505 0.00017
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln) rs369678002 0.00017
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr) rs373857078 0.00017
NM_000890.5(KCNJ5):c.1123C>T (p.Arg375Trp) rs142454198 0.00017
NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly) rs201008196 0.00017
NM_001142784.3(IL11RA):c.344G>A (p.Arg115His) rs201997285 0.00017
NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu) rs35960628 0.00017
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro) rs201693280 0.00017
NM_001289104.2(PRKCSH):c.1559C>T (p.Pro520Leu) rs139214550 0.00017
NM_001291303.3(FAT4):c.6977C>T (p.Thr2326Ile) rs200344386 0.00017
NM_001377299.1(NDUFS2):c.600C>T (p.Phe200=) rs138185030 0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser) rs183021118 0.00017
NM_001384732.1(CPLANE1):c.7559A>G (p.His2520Arg) rs369951498 0.00017
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser) rs377198201 0.00017
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190 0.00017
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile) rs372750707 0.00017
NM_003072.5(SMARCA4):c.425G>T (p.Gly142Val) rs145749221 0.00017
NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala) rs147964932 0.00017
NM_003098.3(SNTA1):c.430T>G (p.Ser144Ala) rs142978180 0.00017
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile) rs146684391 0.00017
NM_004560.4(ROR2):c.2698G>A (p.Ala900Thr) rs202213533 0.00017
NM_004999.4(MYO6):c.262-12T>G rs368072756 0.00017
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala) rs56103026 0.00017
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His) rs116034780 0.00017
NM_006005.3(WFS1):c.1774C>G (p.Leu592Val) rs759136937 0.00017
NM_006059.4(LAMC3):c.2468A>G (p.Asn823Ser) rs140325029 0.00017
NM_006514.4(SCN10A):c.5200G>A (p.Glu1734Lys) rs200645452 0.00017
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295 0.00017
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys) rs143212851 0.00017
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser) rs143807689 0.00017
NM_016239.4(MYO15A):c.2116G>A (p.Ala706Thr) rs932191004 0.00017
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00017
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val) rs146436929 0.00017
NM_022042.4(SLC26A1):c.197G>A (p.Arg66Gln) rs201219683 0.00017
NM_024306.5(FA2H):c.925G>A (p.Val309Ile) rs150427439 0.00017
NM_024334.3(TMEM43):c.361A>G (p.Met121Val) rs369878538 0.00017
NM_024598.4(USB1):c.512T>C (p.Ile171Thr) rs149725439 0.00017
NM_025074.7(FRAS1):c.10234C>T (p.Arg3412Cys) rs187826477 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His) rs200907244 0.00017
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly) rs200541858 0.00017
NM_080680.3(COL11A2):c.1002G>C (p.Glu334Asp) rs34415548 0.00017
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met) rs372801738 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981 0.00016
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322 0.00016
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val) rs373291490 0.00016
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu) rs148686474 0.00016
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu) rs371717486 0.00016
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr) rs200450557 0.00016
NM_000123.4(ERCC5):c.1711C>T (p.Pro571Ser) rs141763734 0.00016
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000138.5(FBN1):c.6380-3A>G rs567703513 0.00016
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) rs116403115 0.00016
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293 0.00016
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855 0.00016
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys) rs539080792 0.00016
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met) rs776194441 0.00016
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=) rs374619113 0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642 0.00016
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235 0.00016
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00016
NM_001148.6(ANK2):c.9682G>A (p.Val3228Met) rs141013157 0.00016
NM_001267550.2(TTN):c.53881+5G>A rs753527304 0.00016
NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu) rs542646349 0.00016
NM_001303.4(COX10):c.311C>T (p.Pro104Leu) rs202207627 0.00016
NM_001367624.2(ZNF469):c.4571T>G (p.Leu1524Arg) rs111916311 0.00016
NM_001367624.2(ZNF469):c.8252C>T (p.Ser2751Leu) rs376638940 0.00016
NM_001376.5(DYNC1H1):c.13385G>A (p.Arg4462Gln) rs376608392 0.00016
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449 0.00016
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile) rs202103224 0.00016
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745 0.00016
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val) rs370679299 0.00016
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys) rs144801620 0.00016
NM_001851.6(COL9A1):c.80G>A (p.Arg27His) rs150026024 0.00016
NM_001853.4(COL9A3):c.1730G>A (p.Arg577Gln) rs140377811 0.00016
NM_001853.4(COL9A3):c.763C>T (p.Pro255Ser) rs201294093 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) rs185720909 0.00016
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys) rs200931999 0.00016
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) rs780604625 0.00016
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser) rs34044544 0.00016
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys) rs199685020 0.00016
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) rs377509915 0.00016
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954 0.00016
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_005245.4(FAT1):c.11720A>G (p.Asn3907Ser) rs200662687 0.00016
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser) rs766886560 0.00016
NM_005422.4(TECTA):c.3236A>G (p.Asp1079Gly) rs562735582 0.00016
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_006182.4(DDR2):c.1153A>T (p.Thr385Ser) rs749852883 0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr) rs200398117 0.00016
NM_006514.4(SCN10A):c.365C>T (p.Thr122Met) rs142884499 0.00016
NM_006514.4(SCN10A):c.4607C>G (p.Thr1536Arg) rs778754301 0.00016
NM_006796.3(AFG3L2):c.536A>G (p.Tyr179Cys) rs368594369 0.00016
NM_006946.4(SPTBN2):c.3374G>A (p.Arg1125Gln) rs375601930 0.00016
NM_006949.4(STXBP2):c.953C>T (p.Thr318Met) rs201293382 0.00016
NM_007078.3(LDB3):c.690-4621A>G rs370053163 0.00016
NM_007289.4(MME):c.445A>G (p.Ile149Val) rs200157166 0.00016
NM_014813.3(LRIG2):c.1648C>T (p.Arg550Cys) rs201326654 0.00016
NM_015330.6(SPECC1L):c.1399C>T (p.Arg467Cys) rs145506280 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_016239.4(MYO15A):c.850G>A (p.Glu284Lys) rs201006627 0.00016
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) rs201163739 0.00016
NM_017654.4(SAMD9):c.662G>A (p.Arg221Gln) rs148603551 0.00016
NM_019032.6(ADAMTSL4):c.2120C>T (p.Ala707Val) rs200834788 0.00016
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile) rs113542001 0.00016
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=) rs146942382 0.00016
NM_020297.4(ABCC9):c.4512+765C>T rs142875103 0.00016
NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr) rs146765163 0.00016
NM_022124.6(CDH23):c.6050-10C>T rs560760228 0.00016
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=) rs144131616 0.00016
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser) rs373876101 0.00016
NM_024876.4(COQ8B):c.826G>C (p.Ala276Pro) rs200480831 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_031475.3(ESPN):c.2215C>G (p.Leu739Val) rs368795540 0.00016
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met) rs1996552 0.00016
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn) rs201800819 0.00016
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) rs201076557 0.00016
NM_080916.3(DGUOK):c.366G>C (p.Gln122His) rs199645258 0.00016
NM_133497.4(KCNV2):c.1196C>T (p.Ala399Val) rs200444639 0.00016
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile) rs139418842 0.00016
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 0.00016
NM_198334.3(GANAB):c.1210C>T (p.Arg404Trp) rs143499716 0.00016
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys) rs142617606 0.00016
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser) rs138543813 0.00016
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00015
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val) rs201784750 0.00015
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_000238.4(KCNH2):c.355G>C (p.Asp119His) rs376308069 0.00015
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met) rs377163678 0.00015
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met) rs369768947 0.00015
NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln) rs368862510 0.00015
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr) rs146754847 0.00015
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564 0.00015
NM_000883.4(IMPDH1):c.754G>T (p.Ala252Ser) rs756851981 0.00015
NM_001042545.2(LTBP4):c.3877G>A (p.Val1293Met) rs376368630 0.00015
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile) rs202227661 0.00015
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His) rs147798092 0.00015
NM_001148.6(ANK2):c.5651C>T (p.Ser1884Leu) rs150737736 0.00015
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp) rs376617920 0.00015
NM_001199799.2(ILDR1):c.307G>A (p.Ala103Thr) rs200130100 0.00015
NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala) rs147314754 0.00015
NM_001365999.1(SZT2):c.137C>T (p.Thr46Ile) rs139147641 0.00015
NM_001365999.1(SZT2):c.9286+5G>A rs367775055 0.00015
NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu) rs552311966 0.00015
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu) rs199604280 0.00015
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His) rs771703569 0.00015
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp) rs200554477 0.00015
NM_001457.4(FLNB):c.4814G>A (p.Arg1605His) rs201630300 0.00015
NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys) rs374223828 0.00015
NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys) rs148801165 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_002291.3(LAMB1):c.1447C>T (p.Arg483Cys) rs139568495 0.00015
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr) rs146999911 0.00015
NM_004568.6(SERPINB6):c.125A>C (p.Tyr42Ser) rs147962494 0.00015
NM_004614.5(TK2):c.680C>T (p.Pro227Leu) rs754140768 0.00015
NM_004655.4(AXIN2):c.344A>G (p.Asn115Ser) rs370257532 0.00015
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) rs201433617 0.00015
NM_005422.4(TECTA):c.33C>A (p.Val11=) rs140393508 0.00015
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) rs145428112 0.00015
NM_006005.3(WFS1):c.1012A>G (p.Ile338Val) rs541594934 0.00015
NM_006073.4(TRDN):c.239C>T (p.Ser80Phe) rs181287533 0.00015
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys) rs201979258 0.00015
NM_006361.6(HOXB13):c.6G>A (p.Glu2=) rs371544984 0.00015
NM_006514.4(SCN10A):c.4849G>T (p.Val1617Phe) rs375940680 0.00015
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala) rs199535268 0.00015
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_016239.4(MYO15A):c.3092C>T (p.Thr1031Ile) rs377182808 0.00015
NM_021628.3(ALOXE3):c.365G>T (p.Cys122Phe) rs142479006 0.00015
NM_032119.4(ADGRV1):c.3671C>T (p.Thr1224Ile) rs554285146 0.00015
NM_032119.4(ADGRV1):c.6269G>A (p.Arg2090His) rs370252248 0.00015
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447 0.00015
NM_198407.2(GHSR):c.1070G>A (p.Arg357Gln) rs202112906 0.00015
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser) rs201765507 0.00015
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro) rs145114473 0.00015
NM_206933.4(USH2A):c.5299-10T>C rs375279569 0.00015
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094 0.00014
NM_000085.5(CLCNKB):c.1717T>C (p.Ser573Pro) rs148173992 0.00014
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380 0.00014
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491 0.00014
NM_000261.2(MYOC):c.376C>T (p.Arg126Trp) rs200120115 0.00014
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly) rs141950826 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile) rs200797340 0.00014
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met) rs727503835 0.00014
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr) rs115622575 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) rs200070226 0.00014
NM_001083961.2(WDR62):c.824C>T (p.Ser275Leu) rs202014178 0.00014
NM_001128840.3(CACNA1D):c.1385G>A (p.Arg462Gln) rs35057005 0.00014
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) rs397516596 0.00014
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) rs727505310 0.00014
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu) rs730880184 0.00014
NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr) rs150684838 0.00014
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665 0.00014
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) rs146199720 0.00014
NM_001291303.3(FAT4):c.11153G>A (p.Arg3718His) rs139635339 0.00014
NM_001291303.3(FAT4):c.11822T>C (p.Val3941Ala) rs578140620 0.00014
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile) rs189261750 0.00014
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp) rs766496010 0.00014
NM_001365276.2(TNXB):c.4679C>T (p.Thr1560Met) rs535714494 0.00014
NM_001365999.1(SZT2):c.6961C>T (p.Pro2321Ser) rs776699964 0.00014
NM_001367624.2(ZNF469):c.6227G>A (p.Arg2076Gln) rs554464152 0.00014
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys) rs546141859 0.00014
NM_001367624.2(ZNF469):c.9620C>T (p.Ala3207Val) rs563202944 0.00014
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp) rs201841311 0.00014
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln) rs201804963 0.00014
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00014
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg) rs371516347 0.00014
NM_001378609.3(OTOGL):c.1111C>T (p.His371Tyr) rs78377084 0.00014
NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met) rs77739540 0.00014
NM_001393500.2(TOMT):c.745A>C (p.Ile249Leu) rs727503153 0.00014
NM_001457.4(FLNB):c.3886C>T (p.Pro1296Ser) rs148350434 0.00014
NM_001853.4(COL9A3):c.1529C>T (p.Thr510Met) rs200521238 0.00014
NM_001853.4(COL9A3):c.331C>T (p.Pro111Ser) rs374503994 0.00014
NM_001854.4(COL11A1):c.4270G>C (p.Ala1424Pro) rs371230505 0.00014
NM_001854.4(COL11A1):c.946A>G (p.Ser316Gly) rs369794634 0.00014
NM_001943.5(DSG2):c.3353C>T (p.Ser1118Phe) rs368703304 0.00014
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507 0.00014
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr) rs891844407 0.00014
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg) rs141440715 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002907.4(RECQL):c.1465A>G (p.Ile489Val) rs146077019 0.00014
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala) rs766925398 0.00014
NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys) rs786205846 0.00014
NM_003737.4(DCHS1):c.1103G>A (p.Ser368Asn) rs373185353 0.00014
NM_003737.4(DCHS1):c.6422G>A (p.Arg2141Gln) rs141488333 0.00014
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00014
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys) rs373917399 0.00014
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala) rs576247658 0.00014
NM_004655.4(AXIN2):c.1176G>A (p.Glu392=) rs376052287 0.00014
NM_004793.4(LONP1):c.1379A>G (p.Asn460Ser) rs373661439 0.00014
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu) rs201366118 0.00014
NM_004999.4(MYO6):c.2665A>G (p.Met889Val) rs727505098 0.00014
NM_005262.3(GFER):c.536G>A (p.Arg179His) rs199541169 0.00014
NM_005422.4(TECTA):c.6136G>A (p.Asp2046Asn) rs769561057 0.00014
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu) rs200814534 0.00014
NM_005502.4(ABCA1):c.1780G>A (p.Ala594Thr) rs199655961 0.00014
NM_005502.4(ABCA1):c.6730G>A (p.Val2244Ile) rs144588452 0.00014
NM_005751.5(AKAP9):c.5048C>T (p.Thr1683Met) rs146305558 0.00014
NM_005993.5(TBCD):c.2368C>T (p.Arg790Trp) rs200557085 0.00014
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478 0.00014
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu) rs55674815 0.00014
NM_006031.6(PCNT):c.5603C>T (p.Ala1868Val) rs369038814 0.00014
NM_006031.6(PCNT):c.6895G>A (p.Asp2299Asn) rs150156962 0.00014
NM_006080.3(SEMA3A):c.1382T>C (p.Val461Ala) rs144690677 0.00014
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643 0.00014
NM_006231.4(POLE):c.3646G>A (p.Gly1216Ser) rs200114024 0.00014
NM_006514.4(SCN10A):c.1315A>G (p.Thr439Ala) rs146536985 0.00014
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met) rs200806641 0.00014
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe) rs770374931 0.00014
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser) rs200385766 0.00014
NM_014727.3(KMT2B):c.5981C>T (p.Ala1994Val) rs546000224 0.00014
NM_016239.4(MYO15A):c.4424T>C (p.Ile1475Thr) rs201808265 0.00014
NM_016343.4(CENPF):c.6826T>G (p.Cys2276Gly) rs141620633 0.00014
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239 0.00014
NM_018699.4(PRDM5):c.1114G>A (p.Glu372Lys) rs369580755 0.00014
NM_020451.3(SELENON):c.81C>T (p.Arg27=) rs886038660 0.00014
NM_020745.4(AARS2):c.785G>A (p.Arg262Gln) rs139974034 0.00014
NM_020937.4(FANCM):c.30G>A (p.Gln10=) rs145745979 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_032119.4(ADGRV1):c.12369A>G (p.Ile4123Met) rs202228562 0.00014
NM_032119.4(ADGRV1):c.14224G>A (p.Glu4742Lys) rs372362723 0.00014
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met) rs201007778 0.00014
NM_032119.4(ADGRV1):c.5156C>T (p.Ala1719Val) rs376126357 0.00014
NM_032119.4(ADGRV1):c.6119A>G (p.Tyr2040Cys) rs374889159 0.00014
NM_032119.4(ADGRV1):c.6844A>G (p.Thr2282Ala) rs369212457 0.00014
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) rs151294221 0.00014
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825 0.00014
NM_130468.4(CHST14):c.765C>T (p.Gly255=) rs148053059 0.00014
NM_170601.5(SIAE):c.634G>A (p.Gly212Arg) rs149466359 0.00014
NM_201525.4(ADGRG1):c.760C>T (p.Arg254Trp) rs368130981 0.00014
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His) rs370069953 0.00013
NM_000094.4(COL7A1):c.8359-17T>A rs200207978 0.00013
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro) rs763702846 0.00013
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016 0.00013
NM_000257.4(MYH7):c.3726+6C>T rs377745688 0.00013
NM_000352.6(ABCC8):c.1818-6G>A rs368708177 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000540.3(RYR1):c.11450A>T (p.Asp3817Val) rs372491219 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_000540.3(RYR1):c.6251G>A (p.Arg2084Gln) rs143681974 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys) rs762394421 0.00013
NM_001009944.3(PKD1):c.6484C>T (p.Arg2162Trp) rs373256534 0.00013
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln) rs200528850 0.00013
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) rs200112094 0.00013
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) rs137893207 0.00013
NM_001128840.3(CACNA1D):c.5971C>T (p.Arg1991Trp) rs367976757 0.00013
NM_001145809.2(MYH14):c.1229G>A (p.Arg410His) rs374720181 0.00013
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) rs199549660 0.00013
NM_001148.6(ANK2):c.8239C>T (p.Arg2747Cys) rs376628082 0.00013
NM_001148.6(ANK2):c.8892C>G (p.Ile2964Met) rs62313245 0.00013
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) rs199837769 0.00013
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys) rs149660690 0.00013
NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile) rs747531733 0.00013
NM_001291303.3(FAT4):c.4549A>C (p.Ile1517Leu) rs374899663 0.00013
NM_001292063.2(OTOG):c.883G>A (p.Val295Met) rs186310325 0.00013
NM_001365276.2(TNXB):c.4894A>G (p.Ile1632Val) rs766602645 0.00013
NM_001365276.2(TNXB):c.7694C>T (p.Ala2565Val) rs199719197 0.00013
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505 0.00013
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys) rs114315130 0.00013
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met) rs151127652 0.00013
NM_001367624.2(ZNF469):c.4595G>A (p.Arg1532Gln) rs911235059 0.00013
NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys) rs578166707 0.00013
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile) rs752031193 0.00013
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp) rs200992340 0.00013
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302 0.00013
NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys) rs138034708 0.00013
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470 0.00013
NM_001852.4(COL9A2):c.1049A>G (p.Asp350Gly) rs765020486 0.00013
NM_001853.4(COL9A3):c.1663C>T (p.Arg555Trp) rs201783992 0.00013
NM_001853.4(COL9A3):c.1735C>A (p.Pro579Thr) rs758064613 0.00013
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr) rs375358300 0.00013
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832 0.00013
NM_002204.4(ITGA3):c.2326G>T (p.Gly776Trp) rs542802167 0.00013
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971 0.00013
NM_002439.5(MSH3):c.1177G>A (p.Val393Met) rs761779919 0.00013
NM_002439.5(MSH3):c.562C>T (p.Arg188Cys) rs147289289 0.00013
NM_002473.6(MYH9):c.928A>G (p.Ile310Val) rs149789202 0.00013
NM_002691.4(POLD1):c.371T>C (p.Val124Ala) rs199993010 0.00013
NM_002907.4(RECQL):c.468T>G (p.Ile156Met) rs777214281 0.00013
NM_002907.4(RECQL):c.86C>T (p.Thr29Met) rs145067169 0.00013
NM_003737.4(DCHS1):c.1160G>A (p.Arg387His) rs145132459 0.00013
NM_003922.4(HERC1):c.9682G>A (p.Ala3228Thr) rs201312041 0.00013
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591 0.00013
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys) rs9398723 0.00013
NM_006231.4(POLE):c.6531+5G>A rs368538240 0.00013
NM_006390.4(IPO8):c.3047G>T (p.Gly1016Val) rs201904393 0.00013
NM_006514.4(SCN10A):c.2816C>T (p.Pro939Leu) rs202174472 0.00013
NM_006514.4(SCN10A):c.3417G>C (p.Trp1139Cys) rs143744796 0.00013
NM_006514.4(SCN10A):c.4709C>T (p.Thr1570Met) rs772484960 0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_014000.3(VCL):c.1403C>T (p.Thr468Met) rs147957747 0.00013
NM_015378.4(VPS13D):c.8722A>T (p.Thr2908Ser) rs184253678 0.00013
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr) rs367863299 0.00013
NM_020778.5(ALPK3):c.4381G>C (p.Val1461Leu) rs143835594 0.00013
NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln) rs373011563 0.00013
NM_024422.6(DSC2):c.2298G>C (p.Gln766His) rs139558481 0.00013
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_032119.4(ADGRV1):c.14605C>T (p.Leu4869Phe) rs371563402 0.00013
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val) rs185971062 0.00013
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg) rs147085187 0.00013
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu) rs200659780 0.00013
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) rs34542174 0.00013
NM_054027.6(ANKH):c.1461G>A (p.Met487Ile) rs777229764 0.00013
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys) rs199706677 0.00013
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys) rs201395805 0.00013
NM_177438.3(DICER1):c.4616C>T (p.Thr1539Met) rs747901058 0.00013
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000064.4(C3):c.2861G>A (p.Arg954His) rs139864704 0.00012
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val) rs146885451 0.00012
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser) rs200759521 0.00012
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958 0.00012
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro) rs148310342 0.00012
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser) rs570091335 0.00012
NM_000384.3(APOB):c.11542G>A (p.Ala3848Thr) rs61743512 0.00012
NM_000384.3(APOB):c.11569G>A (p.Val3857Met) rs145655926 0.00012
NM_000384.3(APOB):c.288G>T (p.Gln96His) rs186544754 0.00012
NM_000501.4(ELN):c.35G>T (p.Gly12Val) rs367634266 0.00012
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00012
NM_001005242.3(PKP2):c.1540G>A (p.Val514Ile) rs376102257 0.00012
NM_001009944.3(PKD1):c.8914G>A (p.Asp2972Asn) rs150189496 0.00012
NM_001080467.3(MYO5B):c.2590G>A (p.Ala864Thr) rs372432070 0.00012
NM_001128840.3(CACNA1D):c.1637A>G (p.Asn546Ser) rs55797424 0.00012
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys) rs369626956 0.00012
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001148.6(ANK2):c.9853A>C (p.Ile3285Leu) rs144603824 0.00012
NM_001164496.2(CFAP44):c.652del (p.Arg218fs) rs772295550 0.00012
NM_001291303.3(FAT4):c.13193T>C (p.Ile4398Thr) rs200729108 0.00012
NM_001292034.3(TAB2):c.156A>G (p.Arg52=) rs143213478 0.00012
NM_001349338.3(FOXP1):c.13T>C (p.Ser5Pro) rs762898505 0.00012
NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile) rs201197899 0.00012
NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr) rs766878740 0.00012
NM_001367624.2(ZNF469):c.5266G>A (p.Ala1756Thr) rs371328036 0.00012
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val) rs377282102 0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_001457.4(FLNB):c.3032A>C (p.Glu1011Ala) rs754708052 0.00012
NM_001458.5(FLNC):c.1568T>C (p.Val523Ala) rs182845462 0.00012
NM_001903.5(CTNNA1):c.1899+4A>G rs371589105 0.00012
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn) rs143727462 0.00012
NM_004415.4(DSP):c.2037A>G (p.Ile679Met) rs151049942 0.00012
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro) rs147146713 0.00012
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg) rs576538858 0.00012
NM_005422.4(TECTA):c.2725C>T (p.Arg909Cys) rs139132568 0.00012
NM_005477.3(HCN4):c.2701G>A (p.Ala901Thr) rs201742383 0.00012
NM_005529.7(HSPG2):c.11481C>T (p.Gly3827=) rs150600286 0.00012
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe) rs201491948 0.00012
NM_006059.4(LAMC3):c.944G>A (p.Arg315Gln) rs45444592 0.00012
NM_006231.4(POLE):c.4370G>T (p.Gly1457Val) rs776534749 0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val) rs150610657 0.00012
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) rs141553858 0.00012
NM_017775.4(TTC19):c.713T>C (p.Met238Thr) rs140719848 0.00012
NM_018699.4(PRDM5):c.508C>T (p.Pro170Ser) rs746068577 0.00012
NM_020442.6(VARS2):c.2375A>G (p.Glu792Gly) rs368546838 0.00012
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe) rs201017015 0.00012
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys) rs370141550 0.00012
NM_031475.3(ESPN):c.1489G>A (p.Gly497Arg) rs752185152 0.00012
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg) rs760510612 0.00012
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038 0.00012
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) rs201332554 0.00012
NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser) rs141164483 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_183357.3(ADCY5):c.1174G>A (p.Val392Met) rs140572299 0.00012
NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser) rs988224463 0.00012
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser) rs200654171 0.00012
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His) rs143644029 0.00012
NM_198334.3(GANAB):c.2588G>A (p.Arg863His) rs146501208 0.00012
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val) rs143523460 0.00012
NM_000038.6(APC):c.7621A>G (p.Ile2541Val) rs587778033 0.00011
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile) rs138837077 0.00011
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp) rs757433005 0.00011
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp) rs142045411 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942 0.00011
NM_000097.7(CPOX):c.299A>T (p.Glu100Val) rs367822877 0.00011
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438 0.00011
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469 0.00011
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418 0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu) rs63750843 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354 0.00011
NM_000260.4(MYO7A):c.4694C>T (p.Thr1565Met) rs764915160 0.00011
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr) rs372344870 0.00011
NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe) rs150381599 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr) rs376780156 0.00011
NM_000359.3(TGM1):c.923G>A (p.Arg308Gln) rs201328637 0.00011
NM_000384.3(APOB):c.2204T>A (p.Val735Glu) rs199872875 0.00011
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184 0.00011
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser) rs764148985 0.00011
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp) rs370219248 0.00011
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile) rs368633311 0.00011
NM_001031689.3(PLAA):c.298G>T (p.Asp100Tyr) rs201814139 0.00011
NM_001032283.3(TMPO):c.949A>T (p.Ile317Leu) rs368800243 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001039213.4(CEACAM16):c.527G>A (p.Arg176His) rs746541677 0.00011
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001080449.3(DNA2):c.2618A>G (p.Tyr873Cys) rs200309792 0.00011
NM_001105206.3(LAMA4):c.1788C>A (p.Asp596Glu) rs145986920 0.00011
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr) rs76754818 0.00011
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser) rs139199018 0.00011
NM_001148.6(ANK2):c.8144C>T (p.Ser2715Phe) rs147619875 0.00011
NM_001148.6(ANK2):c.9841C>G (p.Gln3281Glu) rs372534074 0.00011
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790 0.00011
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069 0.00011
NM_001267550.2(TTN):c.12412A>G (p.Ile4138Val) rs377290301 0.00011
NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile) rs370418677 0.00011
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032 0.00011
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg) rs72648234 0.00011
NM_001291303.3(FAT4):c.12716T>C (p.Met4239Thr) rs137954725 0.00011
NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu) rs151034190 0.00011
NM_001364171.2(ODAD1):c.626G>A (p.Ser209Asn) rs367799104 0.00011
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu) rs754458926 0.00011
NM_001370466.1(NOD2):c.2382-9T>A rs201759367 0.00011
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln) rs142917664 0.00011
NM_001378609.3(OTOGL):c.100A>G (p.Ile34Val) rs117411391 0.00011
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) rs201617511 0.00011
NM_001457.4(FLNB):c.2071C>T (p.Arg691Cys) rs776421446 0.00011
NM_001457.4(FLNB):c.2104G>A (p.Gly702Ser) rs374090457 0.00011
NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr) rs377141822 0.00011
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu) rs199653123 0.00011
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser) rs201849355 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) rs369868954 0.00011
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val) rs767979763 0.00011
NM_001953.5(TYMP):c.437G>A (p.Arg146His) rs188802138 0.00011
NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp) rs146388001 0.00011
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln) rs141976385 0.00011
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761 0.00011
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser) rs142454490 0.00011
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359 0.00011
NM_004415.4(DSP):c.5744G>A (p.Arg1915His) rs146617683 0.00011
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys) rs141078292 0.00011
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val) rs755222875 0.00011
NM_004655.4(AXIN2):c.1882C>T (p.Arg628Trp) rs200201811 0.00011
NM_005360.5(MAF):c.460G>A (p.Gly154Ser) rs1022938471 0.00011
NM_005422.4(TECTA):c.4824C>T (p.Ile1608=) rs747713348 0.00011
NM_005422.4(TECTA):c.915C>T (p.Cys305=) rs367974065 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_006514.4(SCN10A):c.599C>T (p.Ala200Val) rs554062977 0.00011
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg) rs748755187 0.00011
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn) rs55975699 0.00011
NM_012293.3(PXDN):c.1495C>G (p.Gln499Glu) rs185623598 0.00011
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647 0.00011
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val) rs201866523 0.00011
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn) rs200073414 0.00011
NM_016239.4(MYO15A):c.6581G>A (p.Arg2194Gln) rs375638438 0.00011
NM_018451.5(CENPJ):c.3803G>A (p.Gly1268Asp) rs151090294 0.00011
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe) rs199602365 0.00011
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys) rs147844153 0.00011
NM_021830.5(TWNK):c.169G>A (p.Ala57Thr) rs373068264 0.00011
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln) rs199903227 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) rs191462023 0.00011
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_032119.4(ADGRV1):c.12697A>C (p.Ser4233Arg) rs770802961 0.00011
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys) rs200644004 0.00011
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg) rs201480340 0.00011
NM_032119.4(ADGRV1):c.4472C>T (p.Thr1491Met) rs138373307 0.00011
NM_032119.4(ADGRV1):c.5260A>G (p.Thr1754Ala) rs201186767 0.00011
NM_032119.4(ADGRV1):c.5892T>C (p.Asn1964=) rs201983595 0.00011
NM_032122.5(DTNBP1):c.811+15C>G rs146113366 0.00011
NM_052867.4(NALCN):c.1280T>C (p.Val427Ala) rs371662809 0.00011
NM_052867.4(NALCN):c.2266G>A (p.Val756Met) rs149203278 0.00011
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101 0.00011
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_173076.3(ABCA12):c.2744C>T (p.Ser915Phe) rs139223000 0.00011
NM_194248.3(OTOF):c.377G>A (p.Gly126Asp) rs187033414 0.00011
NM_205850.3(SLC24A5):c.922T>G (p.Trp308Gly) rs192454382 0.00011
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp) rs373440614 0.00010
NM_000039.3(APOA1):c.454G>A (p.Glu152Lys) rs574061789 0.00010
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940 0.00010
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr) rs200434921 0.00010
NM_000077.5(CDKN2A):c.261G>A (p.Arg87=) rs546300971 0.00010
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr) rs200801946 0.00010
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_000260.4(MYO7A):c.2680G>A (p.Glu894Lys) rs372366760 0.00010
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000337.6(SGCD):c.793G>A (p.Val265Ile) rs772185467 0.00010
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495 0.00010
NM_000540.3(RYR1):c.11691T>C (p.Asp3897=) rs201588544 0.00010
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr) rs142474192 0.00010
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn) rs141298868 0.00010
NM_000717.5(CA4):c.923C>A (p.Ala308Asp) rs201580764 0.00010
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met) rs763738559 0.00010
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) rs758166168 0.00010
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His) rs151039810 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556 0.00010
NM_001128840.3(CACNA1D):c.5473C>T (p.Arg1825Trp) rs144688228 0.00010
NM_001128840.3(CACNA1D):c.6101G>A (p.Arg2034Gln) rs771758707 0.00010
NM_001148.6(ANK2):c.10627A>G (p.Ile3543Val) rs753102215 0.00010
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala) rs773532854 0.00010
NM_001148.6(ANK2):c.7868C>G (p.Ser2623Cys) rs116253689 0.00010
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu) rs180177462 0.00010
NM_001291303.3(FAT4):c.12778G>A (p.Val4260Ile) rs369024765 0.00010
NM_001367624.2(ZNF469):c.10462G>A (p.Glu3488Lys) rs781244140 0.00010
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln) rs372620412 0.00010
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00010
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp) rs189796608 0.00010
NM_001384732.1(CPLANE1):c.5593A>C (p.Asn1865His) rs199524299 0.00010
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=) rs762625409 0.00010
NM_001853.4(COL9A3):c.1339G>A (p.Asp447Asn) rs200153638 0.00010
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607 0.00010
NM_002230.4(JUP):c.608G>A (p.Arg203His) rs200221163 0.00010
NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe) rs147618989 0.00010
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp) rs142059069 0.00010
NM_002471.4(MYH6):c.3343-3C>A rs565446762 0.00010
NM_002473.6(MYH9):c.1149C>T (p.Thr383=) rs143974891 0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_003036.4(SKI):c.2141G>A (p.Arg714His) rs754486257 0.00010
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00010
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_004447.6(EPS8):c.670G>A (p.Val224Ile) rs758506896 0.00010
NM_004817.4(TJP2):c.334G>A (p.Ala112Thr) rs144396411 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005477.3(HCN4):c.3195C>A (p.Val1065=) rs4493011 0.00010
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr) rs142996063 0.00010
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys) rs181961360 0.00010
NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu) rs772734618 0.00010
NM_006514.4(SCN10A):c.2554G>A (p.Glu852Lys) rs375274122 0.00010
NM_006514.4(SCN10A):c.4396C>T (p.Gln1466Ter) rs199931920 0.00010
NM_006947.4(SRP72):c.110-5T>G rs186908289 0.00010
NM_006947.4(SRP72):c.1135A>G (p.Met379Val) rs201095666 0.00010
NM_013296.5(GPSM2):c.505G>A (p.Glu169Lys) rs775142959 0.00010
NM_014000.3(VCL):c.829C>A (p.Leu277Met) rs71579353 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_015175.3(NBEAL2):c.4211G>A (p.Arg1404His) rs202066156 0.00010
NM_016222.4(DDX41):c.38C>T (p.Thr13Ile) rs61736559 0.00010
NM_017654.4(SAMD9):c.3215T>C (p.Leu1072Pro) rs144312575 0.00010
NM_017827.4(SARS2):c.1292G>A (p.Arg431His) rs146193366 0.00010
NM_018060.4(IARS2):c.2360G>A (p.Arg787Gln) rs189118525 0.00010
NM_018699.4(PRDM5):c.1031-6T>A rs753768741 0.00010
NM_022114.4(PRDM16):c.2223G>A (p.Thr741=) rs756779855 0.00010
NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met) rs372158876 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro) rs139714761 0.00010
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) rs199815871 0.00010
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) rs45619737 0.00010
NM_032119.4(ADGRV1):c.5351G>A (p.Arg1784Lys) rs748852381 0.00010
NM_032888.4(COL27A1):c.3262C>A (p.Pro1088Thr) rs146162741 0.00010
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser) rs202190573 0.00010
NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp) rs199712282 0.00010
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658 0.00010
NM_080680.3(COL11A2):c.2417G>A (p.Arg806His) rs200552277 0.00010
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp) rs143920565 0.00010
NM_080680.3(COL11A2):c.5071-7C>G rs200548977 0.00010
NM_144687.4(NLRP12):c.236G>A (p.Arg79Gln) rs144936138 0.00010
NM_152703.5(SAMD9L):c.2528G>A (p.Arg843Gln) rs200160724 0.00010
NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu) rs140348243 0.00010
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240 0.00010
NM_000038.6(APC):c.95A>G (p.Asn32Ser) rs539108537 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu) rs398122558 0.00009
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799 0.00009
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser) rs890999119 0.00009
NM_000091.5(COL4A3):c.2662G>A (p.Asp888Asn) rs376762135 0.00009
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile) rs374427586 0.00009
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr) rs144036466 0.00009
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val) rs371066387 0.00009
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His) rs200146486 0.00009
NM_000092.5(COL4A4):c.3914C>T (p.Pro1305Leu) rs746621296 0.00009
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser) rs587778531 0.00009
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile) rs199472677 0.00009
NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg) rs151031345 0.00009
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys) rs139646545 0.00009
NM_000260.4(MYO7A):c.2915G>A (p.Arg972Gln) rs782426472 0.00009
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln) rs397516328 0.00009
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser) rs140224236 0.00009
NM_000314.6(PTEN):c.-920G>A rs786204937 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599 0.00009
NM_000335.5(SCN5A):c.4325A>G (p.Asn1442Ser) rs1473144775 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His) rs199763382 0.00009
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_000458.4(HNF1B):c.1637T>C (p.Met546Thr) rs551889844 0.00009
NM_000460.4(THPO):c.-7G>A rs140178375 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu) rs151029675 0.00009
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu) rs199837883 0.00009
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843 0.00009
NM_000719.7(CACNA1C):c.459C>T (p.Asn153=) rs367638447 0.00009
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=) rs369079645 0.00009
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln) rs776608168 0.00009
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser) rs373665895 0.00009
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135 0.00009
NM_001042472.3(ABHD12):c.118C>G (p.Leu40Val) rs746196586 0.00009
NM_001077653.2(TBX20):c.1331C>T (p.Thr444Met) rs201217462 0.00009
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886 0.00009
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) rs750027720 0.00009
NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu) rs186264035 0.00009
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser) rs29372 0.00009
NM_001148.6(ANK2):c.7168A>C (p.Lys2390Gln) rs151218210 0.00009
NM_001148.6(ANK2):c.877G>A (p.Asp293Asn) rs752213208 0.00009
NM_001267550.2(TTN):c.25557C>T (p.Gly8519=) rs372320172 0.00009
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=) rs771635198 0.00009
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val) rs141837529 0.00009
NM_001291303.3(FAT4):c.14362G>A (p.Gly4788Arg) rs138173652 0.00009
NM_001291303.3(FAT4):c.8537G>A (p.Arg2846Gln) rs373393333 0.00009
NM_001292034.3(TAB2):c.311C>T (p.Thr104Met) rs559771770 0.00009
NM_001365276.2(TNXB):c.7889G>A (p.Arg2630His) rs374865424 0.00009
NM_001365999.1(SZT2):c.5665G>T (p.Ala1889Ser) rs370230435 0.00009
NM_001367624.2(ZNF469):c.266A>G (p.Lys89Arg) rs1022368248 0.00009
NM_001367624.2(ZNF469):c.80C>T (p.Pro27Leu) rs1009769670 0.00009
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp) rs376812264 0.00009
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met) rs375838474 0.00009
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr) rs775475186 0.00009
NM_001378615.1(CC2D2A):c.2182-9G>A rs376312792 0.00009
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys) rs144969169 0.00009
NM_001384732.1(CPLANE1):c.6446G>A (p.Ser2149Asn) rs765250980 0.00009
NM_001457.4(FLNB):c.3673G>A (p.Ala1225Thr) rs371610564 0.00009
NM_001457.4(FLNB):c.7120C>T (p.Arg2374Cys) rs146963572 0.00009
NM_001458.5(FLNC):c.1605C>T (p.Cys535=) rs199976790 0.00009
NM_001458.5(FLNC):c.1616C>T (p.Pro539Leu) rs375570393 0.00009
NM_001844.5(COL2A1):c.112G>A (p.Gly38Arg) rs765855138 0.00009
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296 0.00009
NM_001851.6(COL9A1):c.344C>T (p.Thr115Met) rs200018557 0.00009
NM_001851.6(COL9A1):c.38T>C (p.Val13Ala) rs140274454 0.00009
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu) rs192842970 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001987.5(ETV6):c.605G>A (p.Arg202Gln) rs200351280 0.00009
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr) rs139559495 0.00009
NM_002230.4(JUP):c.578T>C (p.Met193Thr) rs139496777 0.00009
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864 0.00009
NM_002291.3(LAMB1):c.5225-8C>A rs778153007 0.00009
NM_002471.4(MYH6):c.4651-3C>A rs572175190 0.00009
NM_002473.6(MYH9):c.5188C>T (p.Arg1730Cys) rs201021615 0.00009
NM_002528.7(NTHL1):c.607C>T (p.Leu203=) rs369076851 0.00009
NM_002907.4(RECQL):c.2T>C (p.Met1Thr) rs146924988 0.00009
NM_003737.4(DCHS1):c.2699C>T (p.Thr900Met) rs150889229 0.00009
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met) rs55932635 0.00009
NM_004341.5(CAD):c.3309G>A (p.Thr1103=) rs771911380 0.00009
NM_004360.5(CDH1):c.1996A>C (p.Asn666His) rs150427791 0.00009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_004415.4(DSP):c.667G>A (p.Gly223Ser) rs200806163 0.00009
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met) rs143145248 0.00009
NM_004991.4(MECOM):c.2571C>A (p.His857Gln) rs371991943 0.00009
NM_005422.4(TECTA):c.1132G>A (p.Val378Met) rs372860835 0.00009
NM_005422.4(TECTA):c.2266A>G (p.Lys756Glu) rs141420954 0.00009
NM_005422.4(TECTA):c.3016G>A (p.Gly1006Ser) rs375052932 0.00009
NM_005422.4(TECTA):c.5046C>T (p.Ile1682=) rs200367148 0.00009
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020 0.00009
NM_005876.5(SPEG):c.8860G>A (p.Gly2954Ser) rs377476081 0.00009
NM_006005.3(WFS1):c.1657G>A (p.Gly553Ser) rs150840308 0.00009
NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp) rs138968466 0.00009
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_006440.5(TXNRD2):c.135C>T (p.Val45=) rs752213778 0.00009
NM_006514.4(SCN10A):c.1417G>C (p.Asp473His) rs143920053 0.00009
NM_006514.4(SCN10A):c.3445G>A (p.Val1149Met) rs560631745 0.00009
NM_006514.4(SCN10A):c.4139G>A (p.Arg1380Gln) rs149155352 0.00009
NM_006514.4(SCN10A):c.5540G>A (p.Arg1847Gln) rs148537653 0.00009
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) rs769397647 0.00009
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) rs200649225 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_012452.3(TNFRSF13B):c.577T>C (p.Cys193Arg) rs764125338 0.00009
NM_014727.3(KMT2B):c.6760C>A (p.Pro2254Thr) rs763536557 0.00009
NM_015915.5(ATL1):c.322A>G (p.Thr108Ala) rs112496709 0.00009
NM_016239.4(MYO15A):c.1613G>A (p.Arg538His) rs552189642 0.00009
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg) rs201542989 0.00009
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His) rs377389290 0.00009
NM_016366.3(CABP2):c.516C>T (p.Ile172=) rs757281872 0.00009
NM_017433.5(MYO3A):c.610G>A (p.Asp204Asn) rs3737274 0.00009
NM_017777.4(MKS1):c.516-10T>C rs375046501 0.00009
NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu) rs549081765 0.00009
NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg) rs143341041 0.00009
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter) rs192448853 0.00009
NM_022124.6(CDH23):c.3070G>A (p.Val1024Met) rs397517319 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His) rs200251748 0.00009
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578 0.00009
NM_024422.6(DSC2):c.2251-5T>G rs374262463 0.00009
NM_024422.6(DSC2):c.23G>T (p.Gly8Val) rs794728063 0.00009
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) rs139979318 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_031475.3(ESPN):c.2406-4C>T rs148975469 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val) rs761066341 0.00009
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr) rs375632680 0.00009
NM_032119.4(ADGRV1):c.4681G>A (p.Ala1561Thr) rs376316770 0.00009
NM_032119.4(ADGRV1):c.6938C>T (p.Pro2313Leu) rs199571511 0.00009
NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu) rs200179979 0.00009
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile) rs547397177 0.00009
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys) rs372035044 0.00009
NM_130837.3(OPA1):c.790-4T>A rs374509936 0.00009
NM_139242.4(MTFMT):c.1094G>A (p.Cys365Tyr) rs190189891 0.00009
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe) rs181520023 0.00009
NM_144573.4(NEXN):c.856C>T (p.Arg286Trp) rs199917913 0.00009
NM_153676.4(USH1C):c.2566G>A (p.Val856Ile) rs201308481 0.00009
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu) rs371856107 0.00009
NM_170682.4(P2RX2):c.1133T>C (p.Phe378Ser) rs143626910 0.00009
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) rs45610936 0.00009
NM_173076.3(ABCA12):c.1446A>C (p.Glu482Asp) rs368135271 0.00009
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln) rs771898973 0.00009
NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln) rs200312028 0.00009
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307 0.00009
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=) rs768759268 0.00009
NM_206933.4(USH2A):c.9614G>A (p.Arg3205His) rs200726531 0.00009
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430 0.00008
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000038.6(APC):c.721G>A (p.Glu241Lys) rs777603154 0.00008
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln) rs372436488 0.00008
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_000094.4(COL7A1):c.7037G>A (p.Arg2346His) rs201432371 0.00008
NM_000142.5(FGFR3):c.707G>A (p.Ser236Asn) rs200495316 0.00008
NM_000179.3(MSH6):c.1474A>G (p.Met492Val) rs61754783 0.00008
NM_000233.4(LHCGR):c.1169A>G (p.Lys390Arg) rs549696399 0.00008
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000350.3(ABCA4):c.673G>A (p.Val225Met) rs540124349 0.00008
NM_000384.3(APOB):c.11966G>A (p.Arg3989His) rs148197354 0.00008
NM_000384.3(APOB):c.13175G>A (p.Ser4392Asn) rs777718986 0.00008
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr) rs72654426 0.00008
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976 0.00008
NM_000501.4(ELN):c.1358-198G>A rs192461213 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile) rs140616359 0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_001025616.3(ARHGAP24):c.1916G>A (p.Ser639Asn) rs200213078 0.00008
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met) rs763389778 0.00008
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile) rs373740752 0.00008
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile) rs200773083 0.00008
NM_001170629.2(CHD8):c.5662T>C (p.Tyr1888His) rs373607095 0.00008
NM_001202.6(BMP4):c.898C>T (p.Arg300Trp) rs182373336 0.00008
NM_001354604.2(MITF):c.537C>T (p.Asn179=) rs150591206 0.00008
NM_001365999.1(SZT2):c.4188C>T (p.Ser1396=) rs138401303 0.00008
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu) rs769853271 0.00008
NM_001368894.2(PAX6):c.958+4A>T rs765926181 0.00008
NM_001844.5(COL2A1):c.410G>A (p.Arg137His) rs201675352 0.00008
NM_001853.4(COL9A3):c.332C>T (p.Pro111Leu) rs368744467 0.00008
NM_001853.4(COL9A3):c.931G>A (p.Val311Met) rs546308741 0.00008
NM_001854.4(COL11A1):c.3967C>A (p.Pro1323Thr) rs377044024 0.00008
NM_001903.5(CTNNA1):c.2559C>T (p.Asn853=) rs374540412 0.00008
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_002470.4(MYH3):c.4987C>T (p.Arg1663Trp) rs777159320 0.00008
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) rs200153625 0.00008
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp) rs527571090 0.00008
NM_002907.4(RECQL):c.386G>A (p.Cys129Tyr) rs187203579 0.00008
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) rs28936704 0.00008
NM_003977.4(AIP):c.561C>T (p.Asn187=) rs142037029 0.00008
NM_004655.4(AXIN2):c.2239C>T (p.His747Tyr) rs143571197 0.00008
NM_004655.4(AXIN2):c.475G>T (p.Asp159Tyr) rs753036084 0.00008
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met) rs186780639 0.00008
NM_006019.4(TCIRG1):c.631-15_642dup rs745521166 0.00008
NM_006361.6(HOXB13):c.832G>T (p.Val278Leu) rs200997384 0.00008
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile) rs746809573 0.00008
NM_006514.4(SCN10A):c.1601G>A (p.Arg534Gln) rs147246725 0.00008
NM_006514.4(SCN10A):c.3712C>G (p.Leu1238Val) rs960602539 0.00008
NM_006514.4(SCN10A):c.446G>A (p.Arg149Gln) rs201706560 0.00008
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_016239.4(MYO15A):c.5830C>T (p.Arg1944Cys) rs199968059 0.00008
NM_016580.4(PCDH12):c.2534C>T (p.Thr845Met) rs368872362 0.00008
NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter) rs148855956 0.00008
NM_017654.4(SAMD9):c.4586G>A (p.Arg1529His) rs149966534 0.00008
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_018699.4(PRDM5):c.6G>T (p.Leu2=) rs745891819 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_021830.5(TWNK):c.1485G>A (p.Arg495=) rs202197777 0.00008
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys) rs180908546 0.00008
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) rs762556795 0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107 0.00008
NM_024915.4(GRHL2):c.303T>A (p.Ser101Arg) rs140106332 0.00008
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg) rs369717492 0.00008
NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala) rs757135353 0.00008
NM_032237.5(POMK):c.704A>G (p.Asn235Ser) rs200742772 0.00008
NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln) rs542676905 0.00008
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393 0.00008
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=) rs369726425 0.00008
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile) rs41297067 0.00008
NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys) rs752552097 0.00008
NM_080680.3(COL11A2):c.2326C>T (p.Arg776Cys) rs776701792 0.00008
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln) rs200412464 0.00008
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573 0.00008
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004 0.00008
NM_206933.4(USH2A):c.11008G>A (p.Glu3670Lys) rs140548353 0.00008
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg) rs376983577 0.00008
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro) rs572782576 0.00007
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912 0.00007
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914 0.00007
NM_000078.3(CETP):c.89G>A (p.Cys30Tyr) rs771585518 0.00007
NM_000091.5(COL4A3):c.599C>T (p.Pro200Leu) rs368480491 0.00007
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306 0.00007
NM_000138.5(FBN1):c.2746G>A (p.Val916Met) rs373644734 0.00007
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu) rs370529693 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381 0.00007
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) rs375253473 0.00007
NM_000391.4(TPP1):c.1323C>T (p.Tyr441=) rs757548236 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala) rs777095030 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 0.00007
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val) rs750998195 0.00007
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392 0.00007
NM_001037.5(SCN1B):c.449-3C>A rs370937269 0.00007
NM_001039141.3(TRIOBP):c.5867C>T (p.Pro1956Leu) rs756017020 0.00007
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg) rs148628141 0.00007
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His) rs397516723 0.00007
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440 0.00007
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile) rs201768056 0.00007
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) rs373797219 0.00007
NM_001136193.2(FASTKD2):c.558A>G (p.Thr186=) rs569854101 0.00007
NM_001148.6(ANK2):c.11470C>G (p.Pro3824Ala) rs747961230 0.00007
NM_001148.6(ANK2):c.3931G>A (p.Val1311Ile) rs34065266 0.00007
NM_001148.6(ANK2):c.4016C>T (p.Pro1339Leu) rs371357815 0.00007
NM_001148.6(ANK2):c.6505G>A (p.Val2169Ile) rs149292242 0.00007
NM_001148.6(ANK2):c.7964C>T (p.Ser2655Leu) rs373153154 0.00007
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile) rs193922637 0.00007
NM_001199799.2(ILDR1):c.1324C>T (p.Arg442Cys) rs141559449 0.00007
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His) rs397517775 0.00007
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197 0.00007
NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser) rs778821191 0.00007
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro) rs370402083 0.00007
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=) rs371108940 0.00007
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr) rs146843542 0.00007
NM_001844.5(COL2A1):c.3719G>A (p.Arg1240Gln) rs770482348 0.00007
NM_001853.4(COL9A3):c.1624G>A (p.Ala542Thr) rs190167637 0.00007
NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys) rs372387693 0.00007
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr) rs144562769 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628 0.00007
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653 0.00007
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_002230.4(JUP):c.529C>T (p.Arg177Trp) rs148484473 0.00007
NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala) rs754354210 0.00007
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103 0.00007
NM_002528.7(NTHL1):c.37C>T (p.Arg13Trp) rs3087469 0.00007
NM_002691.4(POLD1):c.2178G>C (p.Gln726His) rs747483140 0.00007
NM_003383.5(VLDLR):c.104C>T (p.Pro35Leu) rs113809568 0.00007
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108 0.00007
NM_003839.4(TNFRSF11A):c.121G>A (p.Glu41Lys) rs149317524 0.00007
NM_004183.4(BEST1):c.1271G>C (p.Gly424Ala) rs201210799 0.00007
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val) rs145101532 0.00007
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) rs200951235 0.00007
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg) rs202232360 0.00007
NM_004736.4(XPR1):c.1975C>T (p.Arg659Trp) rs200954931 0.00007
NM_004793.4(LONP1):c.2853G>C (p.Gln951His) rs370434508 0.00007
NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr) rs186589083 0.00007
NM_005422.4(TECTA):c.2967C>A (p.His989Gln) rs200821009 0.00007
NM_005472.5(KCNE3):c.296G>A (p.Arg99His) rs121908441 0.00007
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu) rs762770081 0.00007
NM_005732.4(RAD50):c.1911T>A (p.Asp637Glu) rs144749616 0.00007
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser) rs780727054 0.00007
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795 0.00007
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748 0.00007
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met) rs80357001 0.00007
NM_014391.3(ANKRD1):c.820T>C (p.Tyr274His) rs377074932 0.00007
NM_014467.3(SRPX2):c.248T>C (p.Leu83Pro) rs141168255 0.00007
NM_015404.4(WHRN):c.2093T>A (p.Val698Glu) rs201184915 0.00007
NM_016239.4(MYO15A):c.2012G>A (p.Ser671Asn) rs962124239 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017636.4(TRPM4):c.2508C>T (p.Gly836=) rs750999263 0.00007
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=) rs767368987 0.00007
NM_020778.5(ALPK3):c.3137G>A (p.Arg1046His) rs184951836 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_032119.4(ADGRV1):c.11339G>A (p.Arg3780His) rs375613551 0.00007
NM_032119.4(ADGRV1):c.3955C>T (p.Arg1319Trp) rs372789540 0.00007
NM_032380.5(GFM2):c.1196T>C (p.Ile399Thr) rs143233751 0.00007
NM_080680.3(COL11A2):c.142C>T (p.Arg48Trp) rs151140273 0.00007
NM_080680.3(COL11A2):c.2327G>A (p.Arg776His) rs748159740 0.00007
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) rs201180712 0.00007
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00007
NM_194248.3(OTOF):c.2516C>T (p.Ala839Val) rs201246660 0.00007
NM_198999.3(SLC26A5):c.1849C>T (p.Pro617Ser) rs144150940 0.00007
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070 0.00007
NM_000038.6(APC):c.2110G>A (p.Val704Ile) rs367804502 0.00006
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756 0.00006
NM_000038.6(APC):c.5774C>A (p.Pro1925His) rs762682111 0.00006
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu) rs730881270 0.00006
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000069.3(CACNA1S):c.208G>A (p.Val70Met) rs771706267 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986 0.00006
NM_000091.5(COL4A3):c.513C>T (p.Gly171=) rs199514043 0.00006
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841 0.00006
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly) rs192411379 0.00006
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe) rs201403066 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile) rs193922244 0.00006
NM_000142.5(FGFR3):c.885C>T (p.Gly295=) rs375181682 0.00006
NM_000143.4(FH):c.35G>T (p.Arg12Leu) rs367826177 0.00006
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329 0.00006
NM_000179.3(MSH6):c.643G>A (p.Val215Ile) rs145959653 0.00006
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys) rs544222338 0.00006
NM_000218.3(KCNQ1):c.1733-7C>G rs367568223 0.00006
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) rs794728399 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.1309G>A (p.Val437Met) rs730880535 0.00006
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00006
NM_000260.4(MYO7A):c.3503+9C>T rs1481745974 0.00006
NM_000335.5(SCN5A):c.3094G>A (p.Glu1032Lys) rs369565476 0.00006
NM_000335.5(SCN5A):c.393-5C>A rs368678204 0.00006
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619 0.00006
NM_000335.5(SCN5A):c.5828G>A (p.Arg1943Gln) rs767089602 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His) rs143557848 0.00006
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser) rs200517023 0.00006
NM_000384.3(APOB):c.5863G>A (p.Val1955Met) rs368970025 0.00006
NM_000384.3(APOB):c.8134C>T (p.Arg2712Cys) rs372245645 0.00006
NM_000391.4(TPP1):c.323C>T (p.Ala108Val) rs374132017 0.00006
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) rs748686068 0.00006
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn) rs368547224 0.00006
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln) rs753479021 0.00006
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473 0.00006
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser) rs749935207 0.00006
NM_000890.5(KCNJ5):c.53C>T (p.Thr18Ile) rs375669366 0.00006
NM_001001331.4(ATP2B2):c.1627G>A (p.Ala543Thr) rs777396418 0.00006
NM_001003841.3(SLC6A19):c.812C>T (p.Ala271Val) rs374976872 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001018008.2(TPM1):c.695G>A (p.Arg232His) rs730881128 0.00006
NM_001037.5(SCN1B):c.415G>A (p.Val139Ile) rs560827790 0.00006
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 0.00006
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286 0.00006
NM_001105206.3(LAMA4):c.5444dup (p.Ser1816fs) rs782327744 0.00006
NM_001105206.3(LAMA4):c.829G>A (p.Val277Ile) rs146225813 0.00006
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly) rs771768635 0.00006
NM_001128840.3(CACNA1D):c.789C>G (p.Ser263=) rs369697705 0.00006
NM_001128840.3(CACNA1D):c.962G>A (p.Gly321Glu) rs763483604 0.00006
NM_001148.6(ANK2):c.10016C>T (p.Ala3339Val) rs150437645 0.00006
NM_001148.6(ANK2):c.4982A>G (p.Lys1661Arg) rs761759361 0.00006
NM_001148.6(ANK2):c.8176A>G (p.Thr2726Ala) rs781344591 0.00006
NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile) rs200922244 0.00006
NM_001164508.2(NEB):c.18694-7A>T rs373371474 0.00006
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg) rs201119402 0.00006
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001171155.2(PET100):c.197T>C (p.Leu66Pro) rs570620177 0.00006
NM_001195248.2(APTX):c.771-5A>G rs751250105 0.00006
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) rs199696688 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu) rs200931793 0.00006
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr) rs199514898 0.00006
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu) rs372350131 0.00006
NM_001286577.2(C2CD3):c.1964C>A (p.Pro655Gln) rs555646012 0.00006
NM_001286577.2(C2CD3):c.2594C>G (p.Ser865Cys) rs148264086 0.00006
NM_001291303.3(FAT4):c.2273C>T (p.Ala758Val) rs570502199 0.00006
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met) rs758489218 0.00006
NM_001363711.2(DUOX2):c.1933G>T (p.Asp645Tyr) rs773358950 0.00006
NM_001365276.2(TNXB):c.5780T>C (p.Ile1927Thr) rs751320202 0.00006
NM_001365276.2(TNXB):c.6362G>A (p.Arg2121His) rs778533848 0.00006
NM_001365276.2(TNXB):c.7513G>A (p.Glu2505Lys) rs61731831 0.00006
NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser) rs745385522 0.00006
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn) rs749179728 0.00006
NM_001367624.2(ZNF469):c.2119C>T (p.Arg707Cys) rs188954563 0.00006
NM_001367624.2(ZNF469):c.2345T>C (p.Val782Ala) rs535983876 0.00006
NM_001367624.2(ZNF469):c.5206G>A (p.Gly1736Arg) rs796410888 0.00006
NM_001367624.2(ZNF469):c.6236C>T (p.Ser2079Phe) rs765190704 0.00006
NM_001367624.2(ZNF469):c.7090G>A (p.Ala2364Thr) rs957383204 0.00006
NM_001367624.2(ZNF469):c.8590C>G (p.Pro2864Ala) rs751901105 0.00006
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu) rs202002052 0.00006
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg) rs534635095 0.00006
NM_001378964.1(CDON):c.1069C>A (p.Arg357=) rs200614048 0.00006
NM_001379180.1(ESRRB):c.924C>A (p.Gly308=) rs148356050 0.00006
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=) rs746404657 0.00006
NM_001384479.1(AGT):c.1345C>T (p.Arg449Cys) rs375261929 0.00006
NM_001457.4(FLNB):c.5380G>A (p.Gly1794Arg) rs149600652 0.00006
NM_001457.4(FLNB):c.5843G>A (p.Arg1948Gln) rs143752722 0.00006
NM_001673.5(ASNS):c.1464C>T (p.Tyr488=) rs768064875 0.00006
NM_001846.4(COL4A2):c.1957G>A (p.Ala653Thr) rs199875726 0.00006
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr) rs141776183 0.00006
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) rs201847956 0.00006
NM_001853.4(COL9A3):c.1748G>A (p.Arg583His) rs201219004 0.00006
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro) rs775587076 0.00006
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751 0.00006
NM_001987.5(ETV6):c.1133G>A (p.Arg378Gln) rs146280653 0.00006
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 0.00006
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008 0.00006
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) rs782439900 0.00006
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933 0.00006
NM_002230.4(JUP):c.568G>A (p.Val190Met) rs370143312 0.00006
NM_002230.4(JUP):c.778G>A (p.Ala260Thr) rs149623442 0.00006
NM_002473.6(MYH9):c.3676C>T (p.Arg1226Trp) rs375797448 0.00006
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp) rs375955867 0.00006
NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln) rs149169068 0.00006
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu) rs771128441 0.00006
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln) rs778275831 0.00006
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp) rs780138978 0.00006
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp) rs770250516 0.00006
NM_003098.3(SNTA1):c.589C>T (p.Arg197Trp) rs530603992 0.00006
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg) rs185980145 0.00006
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe) rs764100439 0.00006
NM_003737.4(DCHS1):c.5363G>A (p.Arg1788His) rs753184200 0.00006
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) rs201800225 0.00006
NM_003977.4(AIP):c.403C>T (p.His135Tyr) rs150487522 0.00006
NM_003998.4(NFKB1):c.692G>A (p.Arg231His) rs146936581 0.00006
NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn) rs140251789 0.00006
NM_004360.5(CDH1):c.846G>A (p.Met282Ile) rs200932258 0.00006
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys) rs138053929 0.00006
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser) rs149773722 0.00006
NM_004655.4(AXIN2):c.623C>T (p.Ala208Val) rs201531372 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005422.4(TECTA):c.6401C>T (p.Thr2134Met) rs372282487 0.00006
NM_005422.4(TECTA):c.841G>A (p.Val281Ile) rs142205703 0.00006
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) rs553805862 0.00006
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) rs71524360 0.00006
NM_006012.4(CLPP):c.340C>T (p.Pro114Ser) rs771668786 0.00006
NM_006059.4(LAMC3):c.4660C>T (p.Arg1554Cys) rs375971925 0.00006
NM_006231.4(POLE):c.1106+20A>G rs200322118 0.00006
NM_006231.4(POLE):c.5553-12C>G rs766922669 0.00006
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967 0.00006
NM_006514.4(SCN10A):c.1754C>T (p.Ser585Leu) rs781705809 0.00006
NM_006514.4(SCN10A):c.3010T>G (p.Ser1004Ala) rs186031413 0.00006
NM_006514.4(SCN10A):c.3425G>A (p.Arg1142His) rs200584416 0.00006
NM_006514.4(SCN10A):c.4514C>T (p.Thr1505Met) rs184521520 0.00006
NM_006514.4(SCN10A):c.5548C>T (p.Gln1850Ter) rs149504103 0.00006
NM_007078.3(LDB3):c.1697T>G (p.Met566Arg) rs566463138 0.00006
NM_007103.4(NDUFV1):c.249G>A (p.Ser83=) rs773832212 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp) rs147617631 0.00006
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770 0.00006
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly) rs111539978 0.00006
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp) rs189033496 0.00006
NM_014363.6(SACS):c.110G>A (p.Arg37His) rs866539724 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_015311.3(OBSL1):c.4609+12G>A rs367810594 0.00006
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln) rs564358410 0.00006
NM_016239.4(MYO15A):c.4561G>C (p.Glu1521Gln) rs769189017 0.00006
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr) rs369907002 0.00006
NM_017654.4(SAMD9):c.1370A>C (p.Glu457Ala) rs147552284 0.00006
NM_017780.4(CHD7):c.5015C>T (p.Ala1672Val) rs61737194 0.00006
NM_019098.5(CNGB3):c.2387A>G (p.Glu796Gly) rs781481819 0.00006
NM_020117.11(LARS1):c.3205G>A (p.Val1069Ile) rs777624825 0.00006
NM_020207.7(ERCC6L2):c.2746G>A (p.Asp916Asn) rs953232395 0.00006
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val) rs376701259 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
NM_020461.4(TUBGCP6):c.1719C>T (p.Tyr573=) rs201299983 0.00006
NM_020461.4(TUBGCP6):c.1851C>T (p.Ser617=) rs375913178 0.00006
NM_020778.5(ALPK3):c.2543C>T (p.Pro848Leu) rs372536101 0.00006
NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys) rs200173413 0.00006
NM_020937.4(FANCM):c.59C>G (p.Ser20Cys) rs199699785 0.00006
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn) rs202147495 0.00006
NM_022124.6(CDH23):c.9058C>T (p.Arg3020Cys) rs181658753 0.00006
NM_022725.4(FANCF):c.148C>T (p.Arg50Trp) rs577253174 0.00006
NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His) rs199543540 0.00006
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln) rs193922707 0.00006
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp) rs201138253 0.00006
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_024675.4(PALB2):c.560C>A (p.Pro187His) rs371582757 0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys) rs371970388 0.00006
NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile) rs369108080 0.00006
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln) rs534266547 0.00006
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys) rs746621216 0.00006
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser) rs397517427 0.00006
NM_032119.4(ADGRV1):c.18209C>T (p.Thr6070Met) rs776008411 0.00006
NM_032119.4(ADGRV1):c.9661G>A (p.Val3221Met) rs368092861 0.00006
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val) rs181848049 0.00006
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) rs151166046 0.00006
NM_033109.5(PNPT1):c.667A>G (p.Lys223Glu) rs752759589 0.00006
NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe) rs779637525 0.00006
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln) rs148458576 0.00006
NM_033629.6(TREX1):c.219G>A (p.Pro73=) rs778992418 0.00006
NM_053025.4(MYLK):c.1954C>G (p.Pro652Ala) rs750686734 0.00006
NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr) rs371864924 0.00006
NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala) rs555936455 0.00006
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333 0.00006
NM_080680.3(COL11A2):c.3381G>C (p.Glu1127Asp) rs768988213 0.00006
NM_080680.3(COL11A2):c.4706G>A (p.Arg1569His) rs749716412 0.00006
NM_133379.5(TTN):c.12226G>A (p.Glu4076Lys) rs144690298 0.00006
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070 0.00006
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys) rs144350008 0.00006
NM_170707.4(LMNA):c.937-7C>G rs267607681 0.00006
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val) rs371846002 0.00006
NM_173689.7(CRB2):c.3754C>T (p.Arg1252Cys) rs537738396 0.00006
NM_177438.3(DICER1):c.2720T>C (p.Ile907Thr) rs200408568 0.00006
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=) rs754553205 0.00006
NM_201525.4(ADGRG1):c.1744A>T (p.Met582Leu) rs775708467 0.00006
NM_201596.3(CACNB2):c.1206+3A>T rs200174877 0.00006
NM_203447.4(DOCK8):c.2779A>G (p.Ile927Val) rs759239515 0.00006
NM_206933.4(USH2A):c.2365G>A (p.Val789Ile) rs199571930 0.00006
NM_206933.4(USH2A):c.8846-7T>C rs769662049 0.00006
NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu) rs114341997 0.00006
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866 0.00005
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000051.4(ATM):c.4109+6T>C rs368606937 0.00005
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720 0.00005
NM_000059.4(BRCA2):c.8755-9T>C rs397507413 0.00005
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) rs763360081 0.00005
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793 0.00005
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser) rs139935847 0.00005
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu) rs371849585 0.00005
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn) rs972796332 0.00005
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu) rs533602128 0.00005
NM_000092.5(COL4A4):c.4390G>A (p.Gly1464Ser) rs372558522 0.00005
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=) rs202109186 0.00005
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883 0.00005
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile) rs199473353 0.00005
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000238.4(KCNH2):c.443G>A (p.Arg148Gln) rs374912424 0.00005
NM_000245.4(MET):c.100G>A (p.Glu34Lys) rs764246939 0.00005
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln) rs368575559 0.00005
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011 0.00005
NM_000260.4(MYO7A):c.3670G>A (p.Ala1224Thr) rs748928605 0.00005
NM_000260.4(MYO7A):c.4804C>T (p.Arg1602Trp) rs373048784 0.00005
NM_000260.4(MYO7A):c.5033G>A (p.Arg1678Gln) rs371115266 0.00005
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp) rs782505601 0.00005
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly) rs929302665 0.00005
NM_000335.5(SCN5A):c.3359C>T (p.Ala1120Val) rs751938579 0.00005
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 0.00005
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met) rs142732109 0.00005
NM_000458.4(HNF1B):c.1239C>T (p.Val413=) rs201113814 0.00005
NM_000465.4(BARD1):c.1353A>T (p.Gly451=) rs369564500 0.00005
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala) rs587780017 0.00005
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu) rs368351103 0.00005
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535 0.00005
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys) rs187569997 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_000540.3(RYR1):c.4346C>T (p.Ala1449Val) rs775455157 0.00005
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg) rs200170681 0.00005
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser) rs375605948 0.00005
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys) rs559154874 0.00005
NM_001083961.2(WDR62):c.3558C>T (p.Ser1186=) rs111889921 0.00005
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg) rs201047984 0.00005
NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr) rs147458476 0.00005
NM_001148.6(ANK2):c.5063A>G (p.Gln1688Arg) rs369680021 0.00005
NM_001148.6(ANK2):c.8387C>T (p.Pro2796Leu) rs182956726 0.00005
NM_001148.6(ANK2):c.8918T>G (p.Val2973Gly) rs142302291 0.00005
NM_001184.4(ATR):c.3151C>T (p.Arg1051Cys) rs367641692 0.00005
NM_001199799.2(ILDR1):c.1160C>G (p.Ser387Cys) rs746732835 0.00005
NM_001205293.3(CACNA1E):c.3491C>T (p.Ala1164Val) rs377232916 0.00005
NM_001291303.3(FAT4):c.9163C>A (p.Gln3055Lys) rs199778782 0.00005
NM_001292063.2(OTOG):c.5626C>T (p.Leu1876=) rs748088599 0.00005
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr) rs777809121 0.00005
NM_001365999.1(SZT2):c.2887A>G (p.Lys963Glu) rs753130543 0.00005
NM_001367624.2(ZNF469):c.4745G>A (p.Arg1582His) rs758312819 0.00005
NM_001367624.2(ZNF469):c.5332C>A (p.Pro1778Thr) rs528985816 0.00005
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg) rs1163683032 0.00005
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu) rs756584594 0.00005
NM_001371904.1(APOA5):c.875C>T (p.Thr292Ile) rs34832733 0.00005
NM_001378452.1(ITPR1):c.5441A>G (p.Asn1814Ser) rs200927261 0.00005
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala) rs770424780 0.00005
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val) rs202110907 0.00005
NM_001378609.3(OTOGL):c.3184A>T (p.Ile1062Phe) rs188793584 0.00005
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) rs149344567 0.00005
NM_001457.4(FLNB):c.2096G>A (p.Arg699Gln) rs752842243 0.00005
NM_001457.4(FLNB):c.3655C>T (p.Arg1219Trp) rs763607287 0.00005
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898 0.00005
NM_001844.5(COL2A1):c.4149G>A (p.Thr1383=) rs750227063 0.00005
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys) rs148838496 0.00005
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu) rs376442872 0.00005
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser) rs761077330 0.00005
NM_001851.6(COL9A1):c.1202C>A (p.Thr401Lys) rs376664058 0.00005
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) rs146402368 0.00005
NM_001943.5(DSG2):c.862G>A (p.Val288Ile) rs780374242 0.00005
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val) rs751400994 0.00005
NM_002055.5(GFAP):c.1003G>A (p.Gly335Arg) rs149353780 0.00005
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) rs782301706 0.00005
NM_002230.4(JUP):c.412G>A (p.Glu138Lys) rs150245906 0.00005
NM_002230.4(JUP):c.460G>A (p.Glu154Lys) rs782765314 0.00005
NM_002230.4(JUP):c.560C>T (p.Ala187Val) rs782370709 0.00005
NM_002471.4(MYH6):c.5077G>A (p.Val1693Met) rs373457153 0.00005
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln) rs775809843 0.00005
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) rs376154041 0.00005
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) rs768140376 0.00005
NM_002615.7(SERPINF1):c.427G>A (p.Val143Ile) rs548418598 0.00005
NM_002691.4(POLD1):c.1322C>T (p.Thr441Met) rs376711125 0.00005
NM_002907.4(RECQL):c.962G>A (p.Cys321Tyr) rs150889040 0.00005
NM_003047.5(SLC9A1):c.1695C>T (p.Gly565=) rs144261466 0.00005
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_003737.4(DCHS1):c.5853C>T (p.Arg1951=) rs370161556 0.00005
NM_004415.4(DSP):c.643G>A (p.Glu215Lys) rs148095061 0.00005
NM_004415.4(DSP):c.727-10T>G rs375327581 0.00005
NM_004793.4(LONP1):c.613C>T (p.Arg205Cys) rs758142635 0.00005
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288 0.00005
NM_006231.4(POLE):c.2818A>G (p.Met940Val) rs148382941 0.00005
NM_006231.4(POLE):c.4862T>G (p.Val1621Gly) rs534387116 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006514.4(SCN10A):c.3838T>A (p.Ser1280Thr) rs200324539 0.00005
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His) rs767775507 0.00005
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu) rs375306400 0.00005
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00005
NM_007215.4(POLG2):c.361T>G (p.Phe121Val) rs376142071 0.00005
NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile) rs80357364 0.00005
NM_012193.4(FZD4):c.98C>A (p.Pro33Gln) rs756119359 0.00005
NM_014049.5(ACAD9):c.1717G>A (p.Val573Met) rs138264216 0.00005
NM_014141.6(CNTNAP2):c.3271C>G (p.Leu1091Val) rs756994633 0.00005
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932 0.00005
NM_014467.3(SRPX2):c.224A>T (p.Lys75Met) rs767072861 0.00005
NM_014822.4(SEC24D):c.1091A>G (p.Asn364Ser) rs189735385 0.00005
NM_015650.4(TRAF3IP1):c.1451+5G>A rs200601081 0.00005
NM_016239.4(MYO15A):c.4526T>C (p.Ile1509Thr) rs757305597 0.00005
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504 0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_018060.4(IARS2):c.800G>A (p.Arg267His) rs377432411 0.00005
NM_020247.5(COQ8A):c.1407C>T (p.Tyr469=) rs773258464 0.00005
NM_020297.4(ABCC9):c.4512+777G>A rs542730918 0.00005
NM_021076.4(NEFH):c.2362C>A (p.Pro788Thr) rs1346622497 0.00005
NM_022124.6(CDH23):c.5481G>T (p.Gly1827=) rs375545532 0.00005
NM_024334.3(TMEM43):c.679C>G (p.His227Asp) rs201460674 0.00005
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00005
NM_032119.4(ADGRV1):c.10475C>T (p.Ser3492Phe) rs375619656 0.00005
NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile) rs200943280 0.00005
NM_032119.4(ADGRV1):c.12688G>A (p.Glu4230Lys) rs777661211 0.00005
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp) rs532839486 0.00005
NM_032119.4(ADGRV1):c.15884A>T (p.Glu5295Val) rs766907011 0.00005
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met) rs377173958 0.00005
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779 0.00005
NM_032237.5(POMK):c.256C>T (p.Arg86Cys) rs370978230 0.00005
NM_032578.4(MYPN):c.1858A>G (p.Thr620Ala) rs144031245 0.00005
NM_052867.4(NALCN):c.1765-6T>G rs370198465 0.00005
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu) rs746690413 0.00005
NM_080680.3(COL11A2):c.2591C>A (p.Ser864Tyr) rs373490721 0.00005
NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala) rs548592690 0.00005
NM_080680.3(COL11A2):c.3675C>T (p.Gly1225=) rs771644818 0.00005
NM_130837.3(OPA1):c.2544T>A (p.Asn848Lys) rs758248456 0.00005
NM_138691.3(TMC1):c.885-11T>C rs768694342 0.00005
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr) rs201104489 0.00005
NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile) rs3796241 0.00005
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_183357.3(ADCY5):c.2564C>T (p.Thr855Met) rs138954200 0.00005
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln) rs147978393 0.00005
NM_198904.4(GABRG2):c.549-3T>G rs750459631 0.00005
NM_198999.3(SLC26A5):c.2079T>C (p.Phe693=) rs762004358 0.00005
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val) rs753594462 0.00005
NM_000023.4(SGCA):c.270C>T (p.Tyr90=) rs749205073 0.00004
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser) rs730881244 0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000038.6(APC):c.6019T>C (p.Tyr2007His) rs745811356 0.00004
NM_000038.6(APC):c.6682A>G (p.Arg2228Gly) rs199648202 0.00004
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro) rs375586273 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln) rs3218670 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 0.00004
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911 0.00004
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705 0.00004
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys) rs397507793 0.00004
NM_000059.4(BRCA2):c.5969A>C (p.Asp1990Ala) rs148618542 0.00004
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys) rs80358842 0.00004
NM_000059.4(BRCA2):c.623T>G (p.Val208Gly) rs80358865 0.00004
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg) rs397507367 0.00004
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927 0.00004
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) rs55763607 0.00004
NM_000059.4(BRCA2):c.8755-19A>G rs398122713 0.00004
NM_000062.3(SERPING1):c.826C>T (p.Arg276Trp) rs768520560 0.00004
NM_000069.3(CACNA1S):c.2453C>T (p.Ala818Val) rs372668776 0.00004
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met) rs202131129 0.00004
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln) rs775009783 0.00004
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His) rs201463541 0.00004
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys) rs368421264 0.00004
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930 0.00004
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358 0.00004
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile) rs767571919 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His) rs193922159 0.00004
NM_000089.4(COL1A2):c.3209A>C (p.His1070Pro) rs767399660 0.00004
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn) rs765336013 0.00004
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302 0.00004
NM_000091.5(COL4A3):c.672A>G (p.Gly224=) rs375059614 0.00004
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu) rs370311038 0.00004
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp) rs771437236 0.00004
NM_000143.4(FH):c.302G>A (p.Arg101Gln) rs75086406 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000179.3(MSH6):c.1974G>A (p.Val658=) rs372916347 0.00004
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His) rs147026529 0.00004
NM_000238.4(KCNH2):c.1128+1869C>T rs62492438 0.00004
NM_000238.4(KCNH2):c.2398+156G>A rs139247073 0.00004
NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val) rs765427343 0.00004
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp) rs199473021 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg) rs749660228 0.00004
NM_000251.3(MSH2):c.2211-6C>A rs267608003 0.00004
NM_000256.3(MYBPC3):c.1091C>T (p.Ala364Val) rs778161908 0.00004
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565 0.00004
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770 0.00004
NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val) rs730880594 0.00004
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566 0.00004
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076 0.00004
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu) rs781893704 0.00004
NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn) rs782546306 0.00004
NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu) rs374575441 0.00004
NM_000264.5(PTCH1):c.1067+5G>C rs372657547 0.00004
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser) rs199473552 0.00004
NM_000335.5(SCN5A):c.1914C>T (p.Gly638=) rs764488677 0.00004
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147 0.00004
NM_000335.5(SCN5A):c.3574C>T (p.Arg1192Trp) rs192379242 0.00004
NM_000335.5(SCN5A):c.43A>G (p.Arg15Gly) rs752553088 0.00004
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln) rs41311087 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000338.3(SLC12A1):c.2278G>A (p.Val760Ile) rs763036680 0.00004
NM_000384.3(APOB):c.12695A>G (p.Tyr4232Cys) rs767269509 0.00004
NM_000399.5(EGR2):c.832G>A (p.Ala278Thr) rs565355765 0.00004
NM_000428.3(LTBP2):c.2119A>C (p.Ser707Arg) rs145201197 0.00004
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys) rs553752236 0.00004
NM_000493.4(COL10A1):c.2038A>G (p.Met680Val) rs145003921 0.00004
NM_000523.4(HOXD13):c.500A>G (p.Tyr167Cys) rs200067774 0.00004
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756 0.00004
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu) rs759317223 0.00004
NM_000546.6(TP53):c.469G>A (p.Val157Ile) rs121912654 0.00004
NM_000546.6(TP53):c.998G>A (p.Arg333His) rs573154688 0.00004
NM_000548.5(TSC2):c.2859C>T (p.Pro953=) rs397514968 0.00004
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met) rs144022753 0.00004
NM_001025295.3(IFITM5):c.21C>T (p.Arg7=) rs755699416 0.00004
NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp) rs782792216 0.00004
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met) rs770863319 0.00004
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013 0.00004
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln) rs200850285 0.00004
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr) rs774276326 0.00004
NM_001040151.2(SCN3B):c.73G>T (p.Val25Leu) rs746954414 0.00004
NM_001042413.2(GLIS3):c.1779C>T (p.Gly593=) rs370278575 0.00004
NM_001042472.3(ABHD12):c.540C>T (p.Thr180=) rs777592249 0.00004
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu) rs587778542 0.00004
NM_001048174.2(MUTYH):c.797G>A (p.Arg266His) rs146044717 0.00004
NM_001083961.2(WDR62):c.3733C>A (p.Leu1245Met) rs763947043 0.00004
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) rs201335965 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr) rs727503113 0.00004
NM_001128840.3(CACNA1D):c.6217C>T (p.Arg2073Cys) rs140215004 0.00004
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) rs191342808 0.00004
NM_001148.6(ANK2):c.10503A>G (p.Ile3501Met) rs370472530 0.00004
NM_001148.6(ANK2):c.10945A>G (p.Met3649Val) rs145856327 0.00004
NM_001148.6(ANK2):c.5329G>C (p.Val1777Leu) rs886059014 0.00004
NM_001148.6(ANK2):c.5758G>A (p.Gly1920Arg) rs140189724 0.00004
NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe) rs758054052 0.00004
NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys) rs562115547 0.00004
NM_001148.6(ANK2):c.8041C>G (p.Leu2681Val) rs1489919946 0.00004
NM_001160372.4(TRAPPC9):c.2704C>T (p.Arg902Trp) rs370626310 0.00004
NM_001184.4(ATR):c.7471G>A (p.Val2491Ile) rs556313656 0.00004
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met) rs201046911 0.00004
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) rs766935265 0.00004
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr) rs397517571 0.00004
NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp) rs773746281 0.00004
NM_001286577.2(C2CD3):c.5612T>G (p.Leu1871Arg) rs766845407 0.00004
NM_001349338.3(FOXP1):c.1359G>A (p.Ala453=) rs766683691 0.00004
NM_001365999.1(SZT2):c.10156-13G>A rs554300793 0.00004
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His) rs371193436 0.00004
NM_001367624.2(ZNF469):c.4223C>T (p.Pro1408Leu) rs770568316 0.00004
NM_001367624.2(ZNF469):c.4433C>G (p.Ser1478Cys) rs751396157 0.00004
NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr) rs1001497433 0.00004
NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn) rs185464679 0.00004
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met) rs755486931 0.00004
NM_001378452.1(ITPR1):c.4068C>T (p.Asn1356=) rs542486327 0.00004
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser) rs541576664 0.00004
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=) rs199967386 0.00004
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr) rs760068474 0.00004
NM_001379110.1(SLC9A6):c.15C>G (p.Ile5Met) rs782296172 0.00004
NM_001379200.1(TBX1):c.1161C>T (p.Gly387=) rs941116789 0.00004
NM_001457.4(FLNB):c.3661A>G (p.Lys1221Glu) rs537630384 0.00004
NM_001457.4(FLNB):c.3784G>A (p.Gly1262Arg) rs139932035 0.00004
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His) rs746731567 0.00004
NM_001458.5(FLNC):c.6390C>T (p.Gly2130=) rs746751083 0.00004
NM_001673.5(ASNS):c.1593C>A (p.Asp531Glu) rs201432154 0.00004
NM_001822.7(CHN1):c.550-5C>T rs760529847 0.00004
NM_001844.5(COL2A1):c.1018G>A (p.Ala340Thr) rs762355724 0.00004
NM_001844.5(COL2A1):c.2764C>T (p.Pro922Ser) rs769590506 0.00004
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser) rs141418421 0.00004
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His) rs752749747 0.00004
NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu) rs534777436 0.00004
NM_001854.4(COL11A1):c.2389G>A (p.Asp797Asn) rs762668220 0.00004
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys) rs749003514 0.00004
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile) rs1283924469 0.00004
NM_001854.4(COL11A1):c.3595C>G (p.Leu1199Val) rs138507620 0.00004
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172 0.00004
NM_001854.4(COL11A1):c.5144A>T (p.His1715Leu) rs199576799 0.00004
NM_001854.4(COL11A1):c.784G>A (p.Ala262Thr) rs777664906 0.00004
NM_001854.4(COL11A1):c.788C>T (p.Pro263Leu) rs945959591 0.00004
NM_001854.4(COL11A1):c.913G>T (p.Asp305Tyr) rs779346604 0.00004
NM_001927.4(DES):c.1158C>T (p.Arg386=) rs774323736 0.00004
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) rs201046640 0.00004
NM_001943.5(DSG2):c.2004G>A (p.Val668=) rs773645222 0.00004
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu) rs771104668 0.00004
NM_001953.5(TYMP):c.647-9C>G rs549324764 0.00004
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715 0.00004
NM_001999.4(FBN2):c.377G>A (p.Arg126His) rs528614556 0.00004
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.115A>G (p.Ser39Gly) rs782211863 0.00004
NM_002230.4(JUP):c.1280C>T (p.Thr427Met) rs781982717 0.00004
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu) rs781883243 0.00004
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn) rs781804177 0.00004
NM_002317.7(LOX):c.1222T>C (p.Tyr408His) rs765126342 0.00004
NM_002439.5(MSH3):c.1653+4A>G rs373786812 0.00004
NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val) rs535649291 0.00004
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln) rs137924205 0.00004
NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser) rs763280025 0.00004
NM_002528.7(NTHL1):c.111A>G (p.Ala37=) rs779229970 0.00004
NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala) rs753974933 0.00004
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val) rs765981178 0.00004
NM_002700.3(POU4F3):c.405G>A (p.Pro135=) rs145372405 0.00004
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_002880.4(RAF1):c.1913C>T (p.Thr638Met) rs730881007 0.00004
NM_002880.4(RAF1):c.853A>G (p.Ser285Gly) rs150054973 0.00004
NM_002890.3(RASA1):c.2020C>T (p.Arg674Cys) rs370631681 0.00004
NM_003098.3(SNTA1):c.820C>T (p.Arg274Trp) rs201763667 0.00004
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003361.4(UMOD):c.392G>A (p.Gly131Asp) rs368943553 0.00004
NM_003477.3(PDHX):c.1239A>T (p.Gly413=) rs148758785 0.00004
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln) rs780759537 0.00004
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser) rs147925149 0.00004
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr) rs201637081 0.00004
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln) rs587782549 0.00004
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly) rs202109365 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) rs768577891 0.00004
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp) rs200336897 0.00004
NM_004525.3(LRP2):c.2813G>A (p.Arg938Gln) rs372927481 0.00004
NM_004646.4(NPHS1):c.609-10C>T rs763508503 0.00004
NM_004655.4(AXIN2):c.1222G>A (p.Glu408Lys) rs749846538 0.00004
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) rs764612223 0.00004
NM_005138.3(SCO2):c.752C>T (p.Ser251Leu) rs768228804 0.00004
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00004
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met) rs779401654 0.00004
NM_005422.4(TECTA):c.2064G>A (p.Lys688=) rs375140632 0.00004
NM_005422.4(TECTA):c.2288C>T (p.Pro763Leu) rs151296951 0.00004
NM_005422.4(TECTA):c.3742C>T (p.Pro1248Ser) rs202223574 0.00004
NM_005422.4(TECTA):c.45C>T (p.Phe15=) rs756460108 0.00004
NM_005477.3(HCN4):c.3582A>G (p.Pro1194=) rs375637572 0.00004
NM_005612.5(REST):c.2318A>G (p.Gln773Arg) rs199816806 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005751.5(AKAP9):c.4840C>T (p.Arg1614Trp) rs772669837 0.00004
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile) rs573775230 0.00004
NM_006059.4(LAMC3):c.3566C>T (p.Ala1189Val) rs369839636 0.00004
NM_006059.4(LAMC3):c.686T>C (p.Val229Ala) rs149485800 0.00004
NM_006231.4(POLE):c.1357C>G (p.Gln453Glu) rs781360770 0.00004
NM_006231.4(POLE):c.155G>A (p.Arg52Gln) rs372459649 0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln) rs754518522 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val) rs552452448 0.00004
NM_006231.4(POLE):c.912C>T (p.Gly304=) rs1064794932 0.00004
NM_006361.6(HOXB13):c.602-7C>A rs370167148 0.00004
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr) rs142138590 0.00004
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys) rs183950022 0.00004
NM_006514.4(SCN10A):c.1110G>T (p.Gly370=) rs267599808 0.00004
NM_006514.4(SCN10A):c.3156A>G (p.Thr1052=) rs777642089 0.00004
NM_006766.5(KAT6A):c.1603C>T (p.Pro535Ser) rs753999434 0.00004
NM_006766.5(KAT6A):c.5585C>T (p.Ala1862Val) rs759267222 0.00004
NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr) rs756205069 0.00004
NM_006946.4(SPTBN2):c.1906C>T (p.Arg636Trp) rs773155491 0.00004
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His) rs145750214 0.00004
NM_006947.4(SRP72):c.40C>T (p.Leu14=) rs779131373 0.00004
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn) rs45514002 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007215.4(POLG2):c.865C>G (p.Leu289Val) rs530697513 0.00004
NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys) rs201489289 0.00004
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955 0.00004
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp) rs80356899 0.00004
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 0.00004
NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro) rs80357483 0.00004
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00004
NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala) rs145466894 0.00004
NM_007294.4(BRCA1):c.976G>C (p.Glu326Gln) rs773433679 0.00004
NM_007325.5(GRIA3):c.419A>G (p.Gln140Arg) rs771205448 0.00004
NM_014014.5(SNRNP200):c.1581G>A (p.Met527Ile) rs148170370 0.00004
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met) rs751176093 0.00004
NM_014391.3(ANKRD1):c.545G>A (p.Arg182His) rs530739375 0.00004
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val) rs144770680 0.00004
NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met) rs781358846 0.00004
NM_014915.3(ANKRD26):c.1565-4T>C rs747570982 0.00004
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) rs370781594 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys) rs72552294 0.00004
NM_015340.4(LARS2):c.944C>T (p.Ser315Leu) rs755162646 0.00004
NM_015378.4(VPS13D):c.7722G>C (p.Leu2574=) rs746257631 0.00004
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser) rs377736535 0.00004
NM_016222.4(DDX41):c.1308C>T (p.Leu436=) rs767835537 0.00004
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=) rs370047914 0.00004
NM_016239.4(MYO15A):c.5603G>A (p.Arg1868His) rs374249526 0.00004
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu) rs376939609 0.00004
NM_016239.4(MYO15A):c.917G>A (p.Gly306Asp) rs770104934 0.00004
NM_016953.4(PDE11A):c.229G>A (p.Gly77Arg) rs777448999 0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495 0.00004
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg) rs183142477 0.00004
NM_018896.5(CACNA1G):c.2128A>T (p.Ser710Cys) rs543673731 0.00004
NM_020297.4(ABCC9):c.1455+4A>C rs376587222 0.00004
NM_020778.5(ALPK3):c.4637G>C (p.Ser1546Thr) rs373750743 0.00004
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr) rs771311008 0.00004
NM_022124.6(CDH23):c.160C>G (p.Gln54Glu) rs765455172 0.00004
NM_022124.6(CDH23):c.1750C>T (p.Arg584Trp) rs375781856 0.00004
NM_022124.6(CDH23):c.4738C>T (p.Arg1580Cys) rs555430482 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu) rs376514478 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys) rs201094625 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn) rs762055797 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 0.00004
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser) rs377085677 0.00004
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272 0.00004
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg) rs147956904 0.00004
NM_024876.4(COQ8B):c.298G>T (p.Val100Leu) rs745669537 0.00004
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly) rs759061964 0.00004
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser) rs576429729 0.00004
NM_032119.4(ADGRV1):c.16313C>T (p.Thr5438Ile) rs745477465 0.00004
NM_032119.4(ADGRV1):c.212A>G (p.Tyr71Cys) rs530533430 0.00004
NM_032119.4(ADGRV1):c.2524T>G (p.Leu842Val) rs370265583 0.00004
NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln) rs199735068 0.00004
NM_032119.4(ADGRV1):c.5833A>G (p.Lys1945Glu) rs772605124 0.00004
NM_032578.4(MYPN):c.578A>G (p.Gln193Arg) rs573684358 0.00004
NM_032608.7(MYO18B):c.2677G>T (p.Asp893Tyr) rs372933587 0.00004
NM_032888.4(COL27A1):c.296C>T (p.Ala99Val) rs150759476 0.00004
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs) rs1393195833 0.00004
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met) rs727504591 0.00004
NM_052867.4(NALCN):c.2050A>T (p.Thr684Ser) rs751927717 0.00004
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala) rs779116250 0.00004
NM_080680.3(COL11A2):c.2546G>A (p.Arg849Gln) rs761524468 0.00004
NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn) rs772537556 0.00004
NM_080680.3(COL11A2):c.3679C>T (p.Pro1227Ser) rs142500487 0.00004
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327 0.00004
NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu) rs201315111 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro) rs150982987 0.00004
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu) rs772090345 0.00004
NM_133261.3(GIPC3):c.213C>A (p.Ile71=) rs876657467 0.00004
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys) rs776361113 0.00004
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167 0.00004
NM_153676.4(USH1C):c.1768G>A (p.Ala590Thr) rs369255684 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp) rs141423405 0.00004
NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser) rs199620361 0.00004
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser) rs150244426 0.00004
NM_183357.3(ADCY5):c.1127_1129del (p.Leu376_Lys377delinsGln) rs765952713 0.00004
NM_194248.3(OTOF):c.302T>C (p.Ile101Thr) rs754508360 0.00004
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) rs140023414 0.00004
NM_194248.3(OTOF):c.3707G>A (p.Arg1236His) rs368633281 0.00004
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met) rs749384668 0.00004
NM_201384.3(PLEC):c.5555C>T (p.Ala1852Val) rs782360547 0.00004
NM_203486.3(DLL3):c.531C>T (p.Arg177=) rs1013696397 0.00004
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) rs727505170 0.00004
NM_206933.4(USH2A):c.7429G>A (p.Asp2477Asn) rs772852467 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_000038.6(APC):c.1405C>T (p.Leu469=) rs746293695 0.00003
NM_000038.6(APC):c.3529A>G (p.Ile1177Val) rs369834416 0.00003
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg) rs766739164 0.00003
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000038.6(APC):c.647G>A (p.Arg216Gln) rs76685252 0.00003
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000051.4(ATM):c.1905C>T (p.His635=) rs1020808836 0.00003
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser) rs368111672 0.00003
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 0.00003
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr) rs138489917 0.00003
NM_000059.4(BRCA2):c.632-13T>G rs775947267 0.00003
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn) rs80359056 0.00003
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val) rs80359162 0.00003
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg) rs80359167 0.00003
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His) rs760674518 0.00003
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His) rs774884290 0.00003
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) rs749856222 0.00003
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala) rs141521945 0.00003
NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn) rs761895918 0.00003
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile) rs574102153 0.00003
NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His) rs758740269 0.00003
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_000123.4(ERCC5):c.2898C>T (p.Phe966=) rs535585040 0.00003
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523 0.00003
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) rs762400500 0.00003
NM_000138.5(FBN1):c.1668G>A (p.Val556=) rs761662654 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000143.4(FH):c.40C>T (p.Leu14Phe) rs981562354 0.00003
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg) rs63749973 0.00003
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) rs199473644 0.00003
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_000238.4(KCNH2):c.1128+1830C>T rs778819756 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr) rs201046979 0.00003
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr) rs782726270 0.00003
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302 0.00003
NM_000260.4(MYO7A):c.3745C>T (p.Leu1249=) rs569293775 0.00003
NM_000260.4(MYO7A):c.4009G>A (p.Glu1337Lys) rs369375331 0.00003
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=) rs376743356 0.00003
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val) rs574917232 0.00003
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) rs572959359 0.00003
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187 0.00003
NM_000335.5(SCN5A):c.3517C>T (p.Arg1173Trp) rs367906630 0.00003
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603 0.00003
NM_000350.3(ABCA4):c.2311A>T (p.Thr771Ser) rs758090662 0.00003
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=) rs200708414 0.00003
NM_000384.3(APOB):c.5991T>A (p.Asp1997Glu) rs768045701 0.00003
NM_000391.4(TPP1):c.891G>T (p.Arg297=) rs750527536 0.00003
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr) rs376950447 0.00003
NM_000455.5(STK11):c.566C>T (p.Thr189Ile) rs587781515 0.00003
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) rs201032007 0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly) rs587780052 0.00003
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp) rs182246929 0.00003
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu) rs867851900 0.00003
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387 0.00003
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser) rs201834803 0.00003
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln) rs201584482 0.00003
NM_000540.3(RYR1):c.9895G>A (p.Gly3299Ser) rs372203483 0.00003
NM_000546.6(TP53):c.188C>G (p.Ala63Gly) rs372201428 0.00003
NM_000546.6(TP53):c.509C>T (p.Thr170Met) rs779000871 0.00003
NM_000551.4(VHL):c.463+4C>T rs879253989 0.00003
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) rs760888275 0.00003
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn) rs771549676 0.00003
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966 0.00003
NM_001003841.3(SLC6A19):c.1017-13A>G rs202017164 0.00003
NM_001039141.3(TRIOBP):c.5782A>G (p.Ile1928Val) rs781135139 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln) rs369410616 0.00003
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys) rs141563497 0.00003
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp) rs782319667 0.00003
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu) rs200218956 0.00003
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile) rs369747752 0.00003
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg) rs543478618 0.00003
NM_001148.6(ANK2):c.11594A>G (p.Asp3865Gly) rs140606121 0.00003
NM_001148.6(ANK2):c.6205C>T (p.Arg2069Cys) rs754572911 0.00003
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=) rs201397661 0.00003
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600 0.00003
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln) rs183648123 0.00003
NM_001177316.2(SLC34A3):c.458T>C (p.Val153Ala) rs139302994 0.00003
NM_001244008.2(KIF1A):c.3703G>A (p.Asp1235Asn) rs200257048 0.00003
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) rs747240394 0.00003
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn) rs727503622 0.00003
NM_001267550.2(TTN):c.51961C>T (p.Arg17321Cys) rs752764827 0.00003
NM_001267550.2(TTN):c.53943A>T (p.Gly17981=) rs367580862 0.00003
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn) rs794729474 0.00003
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile) rs150930737 0.00003
NM_001267550.2(TTN):c.96708A>G (p.Gly32236=) rs752066259 0.00003
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His) rs371645048 0.00003
NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys) rs1064796541 0.00003
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg) rs369793136 0.00003
NM_001367624.2(ZNF469):c.2123C>T (p.Ala708Val) rs1327795344 0.00003
NM_001367624.2(ZNF469):c.3550G>A (p.Ala1184Thr) rs553460850 0.00003
NM_001367624.2(ZNF469):c.6461C>T (p.Pro2154Leu) rs950986305 0.00003
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met) rs199637120 0.00003
NM_001457.4(FLNB):c.1249G>A (p.Val417Met) rs146583950 0.00003
NM_001457.4(FLNB):c.2005A>G (p.Thr669Ala) rs147481678 0.00003
NM_001457.4(FLNB):c.3652G>A (p.Ala1218Thr) rs370716086 0.00003
NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln) rs573984029 0.00003
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) rs768110640 0.00003
NM_001844.5(COL2A1):c.2259C>T (p.Gly753=) rs781062223 0.00003
NM_001844.5(COL2A1):c.3652A>G (p.Ile1218Val) rs374450416 0.00003
NM_001844.5(COL2A1):c.506C>A (p.Pro169His) rs746108926 0.00003
NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr) rs529770550 0.00003
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln) rs768280699 0.00003
NM_001853.4(COL9A3):c.1570C>T (p.Arg524Cys) rs368767002 0.00003
NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn) rs199942159 0.00003
NM_001854.4(COL11A1):c.1210G>A (p.Gly404Ser) rs1156500992 0.00003
NM_001854.4(COL11A1):c.1262C>T (p.Ala421Val) rs775644641 0.00003
NM_001854.4(COL11A1):c.3344C>T (p.Pro1115Leu) rs958678153 0.00003
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu) rs750838060 0.00003
NM_001854.4(COL11A1):c.4067C>G (p.Pro1356Arg) rs986400534 0.00003
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys) rs141304474 0.00003
NM_001927.4(DES):c.229A>G (p.Thr77Ala) rs769034192 0.00003
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783 0.00003
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe) rs369755953 0.00003
NM_002230.4(JUP):c.2189G>A (p.Ser730Asn) rs782261124 0.00003
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038 0.00003
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) rs138374063 0.00003
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val) rs1362738445 0.00003
NM_002317.7(LOX):c.697A>G (p.Met233Val) rs764007081 0.00003
NM_002335.4(LRP5):c.2241G>A (p.Leu747=) rs867927445 0.00003
NM_002439.5(MSH3):c.582C>G (p.Asp194Glu) rs749446559 0.00003
NM_002470.4(MYH3):c.593C>T (p.Thr198Ile) rs750773513 0.00003
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003
NM_002473.6(MYH9):c.209A>C (p.Asp70Ala) rs764768999 0.00003
NM_002473.6(MYH9):c.5851G>A (p.Ala1951Thr) rs775685559 0.00003
NM_002528.7(NTHL1):c.686-7C>G rs529341502 0.00003
NM_002734.5(PRKAR1A):c.19G>A (p.Ala7Thr) rs369210646 0.00003
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437 0.00003
NM_002907.4(RECQL):c.868-2A>G rs571176607 0.00003
NM_003000.3(SDHB):c.-6G>A rs2295056 0.00003
NM_003036.4(SKI):c.1573G>A (p.Val525Ile) rs141961299 0.00003
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502 0.00003
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860 0.00003
NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg) rs786205848 0.00003
NM_003283.6(TNNT1):c.47-6C>G rs375682055 0.00003
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp) rs376054085 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004183.4(BEST1):c.1133A>G (p.Asn378Ser) rs199998058 0.00003
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln) rs140904592 0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757 0.00003
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys) rs769076258 0.00003
NM_004360.5(CDH1):c.833-3C>T rs587782839 0.00003
NM_004553.6(NDUFS6):c.262G>A (p.Asp88Asn) rs747442701 0.00003
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg) rs758987045 0.00003
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142 0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln) rs555093382 0.00003
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=) rs544565016 0.00003
NM_005559.4(LAMA1):c.126C>T (p.Gly42=) rs540825771 0.00003
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val) rs782551106 0.00003
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971 0.00003
NM_006005.3(WFS1):c.143C>T (p.Ala48Val) rs397517195 0.00003
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) rs144888979 0.00003
NM_006059.4(LAMC3):c.4348C>T (p.Arg1450Cys) rs201785610 0.00003
NM_006059.4(LAMC3):c.4477+3A>G rs202112145 0.00003
NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln) rs199986608 0.00003
NM_006073.4(TRDN):c.592A>G (p.Thr198Ala) rs952211002 0.00003
NM_006231.4(POLE):c.-47G>T rs1014146082 0.00003
NM_006231.4(POLE):c.1588G>A (p.Asp530Asn) rs753660907 0.00003
NM_006231.4(POLE):c.2016G>A (p.Arg672=) rs991583405 0.00003
NM_006231.4(POLE):c.2333A>C (p.Lys778Thr) rs868832791 0.00003
NM_006231.4(POLE):c.4050C>T (p.Leu1350=) rs764888601 0.00003
NM_006231.4(POLE):c.5313G>A (p.Thr1771=) rs201803493 0.00003
NM_006231.4(POLE):c.6408C>T (p.Gly2136=) rs1057524549 0.00003
NM_006245.4(PPP2R5D):c.327G>A (p.Ser109=) rs573662782 0.00003
NM_006361.6(HOXB13):c.122C>T (p.Thr41Met) rs199799743 0.00003
NM_006420.3(ARFGEF2):c.5238C>T (p.Asp1746=) rs371687802 0.00003
NM_006514.4(SCN10A):c.2026G>A (p.Val676Met) rs576503650 0.00003
NM_006514.4(SCN10A):c.232C>T (p.Pro78Ser) rs753292241 0.00003
NM_006514.4(SCN10A):c.4878G>A (p.Met1626Ile) rs371337228 0.00003
NM_006514.4(SCN10A):c.5144A>C (p.Asn1715Thr) rs777258179 0.00003
NM_006514.4(SCN10A):c.5365G>A (p.Asp1789Asn) rs375735101 0.00003
NM_006766.5(KAT6A):c.502C>T (p.Arg168Trp) rs369777293 0.00003
NM_006766.5(KAT6A):c.5339A>G (p.Tyr1780Cys) rs61753681 0.00003
NM_007118.4(TRIO):c.4146G>A (p.Met1382Ile) rs372498676 0.00003
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167 0.00003
NM_007294.4(BRCA1):c.1881C>G (p.Val627=) rs80356838 0.00003
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr) rs80357182 0.00003
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg) rs80357079 0.00003
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171 0.00003
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012 0.00003
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe) rs80357394 0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_012208.4(HARS2):c.1515G>T (p.Glu505Asp) rs370053420 0.00003
NM_016239.4(MYO15A):c.5288G>A (p.Arg1763Gln) rs780165350 0.00003
NM_016239.4(MYO15A):c.7762C>T (p.Arg2588Trp) rs778098806 0.00003
NM_016239.4(MYO15A):c.9913G>A (p.Glu3305Lys) rs535441567 0.00003
NM_017636.4(TRPM4):c.3450C>T (p.Arg1150=) rs763372824 0.00003
NM_018699.4(PRDM5):c.1741G>A (p.Ala581Thr) rs759782529 0.00003
NM_018896.5(CACNA1G):c.305G>A (p.Arg102Gln) rs763813233 0.00003
NM_020320.5(RARS2):c.916G>A (p.Asp306Asn) rs781646725 0.00003
NM_020745.4(AARS2):c.2861C>T (p.Ala954Val) rs747312867 0.00003
NM_020778.5(ALPK3):c.3941G>A (p.Arg1314His) rs746125587 0.00003
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly) rs148810507 0.00003
NM_020975.6(RET):c.2298G>A (p.Pro766=) rs140658743 0.00003
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln) rs200956659 0.00003
NM_022124.6(CDH23):c.5051G>C (p.Arg1684Pro) rs111033475 0.00003
NM_022124.6(CDH23):c.617A>C (p.Asn206Thr) rs528880720 0.00003
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp) rs139842014 0.00003
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024675.4(PALB2):c.94C>G (p.Leu32Val) rs151316635 0.00003
NM_024915.4(GRHL2):c.987G>A (p.Gln329=) rs200745936 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860 0.00003
NM_032119.4(ADGRV1):c.10570C>A (p.Gln3524Lys) rs766464017 0.00003
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu) rs200957385 0.00003
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met) rs375258567 0.00003
NM_032119.4(ADGRV1):c.15698T>C (p.Met5233Thr) rs750968239 0.00003
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His) rs201073459 0.00003
NM_032119.4(ADGRV1):c.3212G>A (p.Ser1071Asn) rs752410892 0.00003
NM_032119.4(ADGRV1):c.4658G>A (p.Arg1553His) rs369994629 0.00003
NM_032119.4(ADGRV1):c.664G>A (p.Asp222Asn) rs763872010 0.00003
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln) rs147401037 0.00003
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs) rs772393186 0.00003
NM_033109.5(PNPT1):c.1566T>A (p.Gly522=) rs754237697 0.00003
NM_033305.3(VPS13A):c.9176A>G (p.Asn3059Ser) rs768641511 0.00003
NM_033380.3(COL4A5):c.2882G>T (p.Gly961Val) rs768478427 0.00003
NM_053025.4(MYLK):c.344G>A (p.Arg115His) rs141131535 0.00003
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met) rs374662467 0.00003
NM_057176.3(BSND):c.917T>C (p.Leu306Pro) rs139049536 0.00003
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg) rs376403182 0.00003
NM_080680.3(COL11A2):c.1363C>T (p.Arg455Trp) rs144862714 0.00003
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys) rs764998691 0.00003
NM_080680.3(COL11A2):c.3020C>T (p.Pro1007Leu) rs771092817 0.00003
NM_080680.3(COL11A2):c.3064G>A (p.Ala1022Thr) rs1398107304 0.00003
NM_080680.3(COL11A2):c.3138G>C (p.Glu1046Asp) rs773329088 0.00003
NM_080680.3(COL11A2):c.3985G>A (p.Glu1329Lys) rs774304709 0.00003
NM_080680.3(COL11A2):c.4190T>G (p.Leu1397Arg) rs571981688 0.00003
NM_080680.3(COL11A2):c.854C>T (p.Thr285Met) rs747064765 0.00003
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys) rs148443938 0.00003
NM_144991.3(TSPEAR):c.41C>T (p.Ala14Val) rs140778310 0.00003
NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg) rs750329453 0.00003
NM_177438.3(DICER1):c.1381A>G (p.Ile461Val) rs141163928 0.00003
NM_177438.3(DICER1):c.4740G>T (p.Gln1580His) rs369465519 0.00003
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His) rs759556319 0.00003
NM_182961.4(SYNE1):c.24449A>G (p.Lys8150Arg) rs557350925 0.00003
NM_183357.3(ADCY5):c.203G>C (p.Arg68Pro) rs776480737 0.00003
NM_194248.3(OTOF):c.1699G>A (p.Ala567Thr) rs771560305 0.00003
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935 0.00003
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp) rs774530840 0.00003
NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val) rs768141777 0.00003
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln) rs372436408 0.00003
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His) rs778272177 0.00003
NM_206933.4(USH2A):c.9989A>T (p.Asn3330Ile) rs397518050 0.00003
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu) rs551183536 0.00002
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu) rs748745776 0.00002
NM_000038.6(APC):c.6670A>G (p.Ile2224Val) rs374597207 0.00002
NM_000038.6(APC):c.7495G>C (p.Val2499Leu) rs33941929 0.00002
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys) rs587783036 0.00002
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile) rs587778073 0.00002
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile) rs587779838 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser) rs150355232 0.00002
NM_000057.4(BLM):c.395G>A (p.Arg132Gln) rs775197136 0.00002
NM_000059.4(BRCA2):c.3176T>G (p.Leu1059Arg) rs1064793927 0.00002
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu) rs80358708 0.00002
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys) rs587776466 0.00002
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala) rs41293499 0.00002
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys) rs41293505 0.00002
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile) rs587782191 0.00002
NM_000059.4(BRCA2):c.9838C>T (p.Pro3280Ser) rs55835607 0.00002
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His) rs553739117 0.00002
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp) rs561979536 0.00002
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met) rs1224786667 0.00002
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile) rs138265497 0.00002
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser) rs375704313 0.00002
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) rs587778187 0.00002
NM_000077.5(CDKN2A):c.198C>T (p.His66=) rs374984975 0.00002
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys) rs750707504 0.00002
NM_000092.5(COL4A4):c.1560T>G (p.Pro520=) rs374935235 0.00002
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly) rs778458961 0.00002
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val) rs571869797 0.00002
NM_000092.5(COL4A4):c.4264G>A (p.Val1422Ile) rs368105222 0.00002
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=) rs863223481 0.00002
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met) rs755914340 0.00002
NM_000103.4(CYP19A1):c.1113C>T (p.Asp371=) rs774007712 0.00002
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=) rs974604498 0.00002
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg) rs770839761 0.00002
NM_000169.3(GLA):c.320A>G (p.Gln107Arg) rs727505060 0.00002
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser) rs186240214 0.00002
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr) rs587782109 0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000213.5(ITGB4):c.5301C>T (p.His1767=) rs963564866 0.00002
NM_000218.3(KCNQ1):c.1128+5G>A rs76735093 0.00002
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000238.4(KCNH2):c.2759G>A (p.Arg920Gln) rs199473670 0.00002
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu) rs41294982 0.00002
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000256.3(MYBPC3):c.502G>A (p.Val168Met) rs569740494 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_000257.4(MYH7):c.154G>A (p.Val52Met) rs730880919 0.00002
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe) rs201012865 0.00002
NM_000257.4(MYH7):c.3637G>A (p.Val1213Met) rs397516182 0.00002
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567 0.00002
NM_000260.4(MYO7A):c.2149G>A (p.Asp717Asn) rs782696212 0.00002
NM_000260.4(MYO7A):c.5166C>T (p.Phe1722=) rs566614598 0.00002
NM_000260.4(MYO7A):c.5195G>A (p.Arg1732His) rs760544219 0.00002
NM_000260.4(MYO7A):c.5547C>A (p.Ile1849=) rs548939171 0.00002
NM_000335.5(SCN5A):c.158G>A (p.Arg53Gln) rs199473049 0.00002
NM_000335.5(SCN5A):c.2141T>C (p.Val714Ala) rs759036311 0.00002
NM_000335.5(SCN5A):c.436G>A (p.Val146Met) rs199473061 0.00002
NM_000368.5(TSC1):c.379G>A (p.Val127Ile) rs372215435 0.00002
NM_000391.4(TPP1):c.425T>G (p.Val142Gly) rs775217501 0.00002
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu) rs773546205 0.00002
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151 0.00002
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940 0.00002
NM_000460.4(THPO):c.9G>A (p.Leu3=) rs577831346 0.00002
NM_000465.4(BARD1):c.2083G>A (p.Val695Ile) rs111367604 0.00002
NM_000478.6(ALPL):c.306C>T (p.Asn102=) rs1015578994 0.00002
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020 0.00002
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp) rs538497899 0.00002
NM_000540.3(RYR1):c.11443A>T (p.Met3815Leu) rs368909156 0.00002
NM_000540.3(RYR1):c.7027+4A>T rs753538619 0.00002
NM_000540.3(RYR1):c.8093T>C (p.Met2698Thr) rs185021599 0.00002
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) rs201049603 0.00002
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) rs758904216 0.00002
NM_001035.3(RYR2):c.6726G>A (p.Val2242=) rs767246962 0.00002
NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly) rs550691734 0.00002
NM_001037.5(SCN1B):c.367G>A (p.Val123Ile) rs754215948 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001069.3(TUBB2A):c.602C>G (p.Ser201Cys) rs1054331 0.00002
NM_001080442.3(SLC38A8):c.633-5T>G rs778342318 0.00002
NM_001080517.3(SETD5):c.3656A>G (p.Glu1219Gly) rs1052957698 0.00002
NM_001083961.2(WDR62):c.1479C>T (p.Ala493=) rs150656878 0.00002
NM_001103.4(ACTN2):c.2496C>T (p.Ile832=) rs189019392 0.00002
NM_001105206.3(LAMA4):c.3559G>A (p.Ala1187Thr) rs781943786 0.00002
NM_001110556.2(FLNA):c.1314C>T (p.Gly438=) rs372113435 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001145809.2(MYH14):c.5566C>T (p.Arg1856Trp) rs539875477 0.00002
NM_001148.6(ANK2):c.10118C>T (p.Ala3373Val) rs371358639 0.00002
NM_001148.6(ANK2):c.3067G>A (p.Gly1023Arg) rs151127289 0.00002
NM_001148.6(ANK2):c.5515A>C (p.Thr1839Pro) rs763795429 0.00002
NM_001148.6(ANK2):c.8182G>A (p.Glu2728Lys) rs756424757 0.00002
NM_001148.6(ANK2):c.8927C>G (p.Ser2976Cys) rs371343942 0.00002
NM_001148.6(ANK2):c.9842A>G (p.Gln3281Arg) rs1306812632 0.00002
NM_001170629.2(CHD8):c.181T>C (p.Ser61Pro) rs1064795811 0.00002
NM_001197104.2(KMT2A):c.5665-10T>C rs1401608038 0.00002
NM_001205293.3(CACNA1E):c.312C>T (p.Ile104=) rs760287778 0.00002
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr) rs201096167 0.00002
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr) rs377564388 0.00002
NM_001267550.2(TTN):c.73426G>A (p.Glu24476Lys) rs760487688 0.00002
NM_001267550.2(TTN):c.74564C>T (p.Thr24855Ile) rs759432194 0.00002
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp) rs749852593 0.00002
NM_001276345.2(TNNT2):c.391G>A (p.Val131Ile) rs537067344 0.00002
NM_001291303.3(FAT4):c.14169G>T (p.Leu4723Phe) rs760377475 0.00002
NM_001291303.3(FAT4):c.4964G>A (p.Ser1655Asn) rs572010193 0.00002
NM_001308093.3(GATA4):c.1070G>T (p.Ser357Ile) rs1014543362 0.00002
NM_001365276.2(TNXB):c.3637G>A (p.Val1213Ile) rs774582576 0.00002
NM_001365276.2(TNXB):c.7774G>A (p.Gly2592Ser) rs767643312 0.00002
NM_001365276.2(TNXB):c.9080A>G (p.Gln3027Arg) rs767216957 0.00002
NM_001367624.2(ZNF469):c.10543G>A (p.Val3515Met) rs535466651 0.00002
NM_001367624.2(ZNF469):c.3030C>G (p.Pro1010=) rs1245818626 0.00002
NM_001367624.2(ZNF469):c.5564A>G (p.Asn1855Ser) rs1196406851 0.00002
NM_001367624.2(ZNF469):c.61C>T (p.Arg21Cys) rs754101639 0.00002
NM_001367624.2(ZNF469):c.664G>A (p.Gly222Ser) rs975247998 0.00002
NM_001377299.1(NDUFS2):c.1324C>T (p.His442Tyr) rs201897431 0.00002
NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His) rs755542969 0.00002
NM_001378609.3(OTOGL):c.3263A>G (p.Asp1088Gly) rs12422945 0.00002
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val) rs774172292 0.00002
NM_001384732.1(CPLANE1):c.4246G>A (p.Val1416Met) rs376365094 0.00002
NM_001457.4(FLNB):c.1628T>C (p.Val543Ala) rs773177128 0.00002
NM_001457.4(FLNB):c.1897A>G (p.Met633Val) rs937051879 0.00002
NM_001457.4(FLNB):c.2098A>C (p.Met700Leu) rs762991925 0.00002
NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile) rs200947960 0.00002
NM_001457.4(FLNB):c.5188G>A (p.Glu1730Lys) rs773991765 0.00002
NM_001458.5(FLNC):c.3372G>A (p.Thr1124=) rs556913973 0.00002
NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser) rs150986092 0.00002
NM_001692.4(ATP6V1B1):c.1089G>A (p.Thr363=) rs782584396 0.00002
NM_001844.5(COL2A1):c.1001G>A (p.Arg334Gln) rs765231668 0.00002
NM_001844.5(COL2A1):c.1481G>A (p.Arg494His) rs766574999 0.00002
NM_001844.5(COL2A1):c.196G>A (p.Asp66Asn) rs976006680 0.00002
NM_001844.5(COL2A1):c.3115A>G (p.Ser1039Gly) rs780375782 0.00002
NM_001844.5(COL2A1):c.3637C>T (p.Pro1213Ser) rs886626700 0.00002
NM_001844.5(COL2A1):c.409C>T (p.Arg137Cys) rs762357071 0.00002
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser) rs537186508 0.00002
NM_001844.5(COL2A1):c.4265G>A (p.Arg1422Gln) rs745349011 0.00002
NM_001853.4(COL9A3):c.1282G>A (p.Asp428Asn) rs562245450 0.00002
NM_001854.4(COL11A1):c.1051C>A (p.Gln351Lys) rs761451204 0.00002
NM_001854.4(COL11A1):c.2520A>G (p.Pro840=) rs942911563 0.00002
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val) rs547406532 0.00002
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp) rs371046485 0.00002
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys) rs753947676 0.00002
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.682A>G (p.Ile228Val) rs374566089 0.00002
NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys) rs377115843 0.00002
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser) rs563865467 0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002880.4(RAF1):c.934G>A (p.Val312Met) rs555034652 0.00002
NM_003742.4(ABCB11):c.2453A>T (p.Tyr818Phe) rs374548469 0.00002
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln) rs1126568 0.00002
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882 0.00002
NM_004415.4(DSP):c.7575C>T (p.Gly2525=) rs780156504 0.00002
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) rs147484870 0.00002
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His) rs777965779 0.00002
NM_004958.4(MTOR):c.4612C>T (p.Arg1538Trp) rs202187935 0.00002
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp) rs748248329 0.00002
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) rs387907286 0.00002
NM_005006.7(NDUFS1):c.502T>C (p.Leu168=) rs759656684 0.00002
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile) rs780716382 0.00002
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr) rs149099078 0.00002
NM_006005.3(WFS1):c.2453G>A (p.Arg818His) rs575851859 0.00002
NM_006086.4(TUBB3):c.813C>T (p.Ala271=) rs776465410 0.00002
NM_006231.4(POLE):c.2792T>C (p.Phe931Ser) rs376546593 0.00002
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln) rs201738371 0.00002
NM_006231.4(POLE):c.3913G>A (p.Gly1305Arg) rs563990655 0.00002
NM_006231.4(POLE):c.4006-8C>A rs745486661 0.00002
NM_006231.4(POLE):c.910-5G>A rs750101293 0.00002
NM_006440.5(TXNRD2):c.1152C>T (p.Gly384=) rs766934707 0.00002
NM_006514.4(SCN10A):c.1397T>C (p.Val466Ala) rs764168768 0.00002
NM_006514.4(SCN10A):c.3474C>G (p.Ile1158Met) rs145568435 0.00002
NM_006514.4(SCN10A):c.3796G>A (p.Gly1266Ser) rs199892190 0.00002
NM_006767.4(LZTR1):c.2265G>T (p.Arg755=) rs370009707 0.00002
NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala) rs200759046 0.00002
NM_006922.4(SCN3A):c.4117T>C (p.Phe1373Leu) rs977221211 0.00002
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys) rs754809056 0.00002
NM_006946.4(SPTBN2):c.5399C>T (p.Ala1800Val) rs367960697 0.00002
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys) rs149317715 0.00002
NM_006946.4(SPTBN2):c.6063T>G (p.Asp2021Glu) rs748137168 0.00002
NM_006946.4(SPTBN2):c.6535C>T (p.Arg2179Trp) rs764921928 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) rs563130304 0.00002
NM_007294.4(BRCA1):c.2005A>G (p.Met669Val) rs561988641 0.00002
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) rs786201784 0.00002
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln) rs80357264 0.00002
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys) rs76475298 0.00002
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg) rs148824690 0.00002
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn) rs754144089 0.00002
NM_014727.3(KMT2B):c.5711C>T (p.Pro1904Leu) rs777489488 0.00002
NM_014915.3(ANKRD26):c.501G>T (p.Leu167Phe) rs183398279 0.00002
NM_015141.4(GPD1L):c.691C>T (p.Arg231Cys) rs143486835 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg) rs1462012083 0.00002
NM_016239.4(MYO15A):c.9023C>T (p.Pro3008Leu) rs765934820 0.00002
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val) rs886044534 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_018896.5(CACNA1G):c.1588C>T (p.Arg530Cys) rs776897967 0.00002
NM_020778.5(ALPK3):c.186C>T (p.Ser62=) rs116058119 0.00002
NM_020778.5(ALPK3):c.2456G>A (p.Arg819Gln) rs116079740 0.00002
NM_020821.3(VPS13C):c.3052-5T>G rs372141774 0.00002
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191 0.00002
NM_020975.6(RET):c.867+4del rs398124368 0.00002
NM_021830.5(TWNK):c.1021C>T (p.Arg341Cys) rs566579080 0.00002
NM_022124.6(CDH23):c.1317C>T (p.Asp439=) rs748828988 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 0.00002
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) rs560482778 0.00002
NM_024422.6(DSC2):c.1456G>A (p.Val486Met) rs188634770 0.00002
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met) rs180863872 0.00002
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu) rs1617629 0.00002
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr) rs763598472 0.00002
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450 0.00002
NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val) rs781928056 0.00002
NM_031407.7(HUWE1):c.6073G>A (p.Ala2025Thr) rs782688724 0.00002
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly) rs4988356 0.00002
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=) rs113697814 0.00002
NM_032119.4(ADGRV1):c.12485T>C (p.Ile4162Thr) rs370746571 0.00002
NM_032119.4(ADGRV1):c.12767A>T (p.Asn4256Ile) rs750752068 0.00002
NM_032119.4(ADGRV1):c.12896G>A (p.Arg4299Gln) rs767181564 0.00002
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met) rs201953675 0.00002
NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile) rs768299251 0.00002
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His) rs757218098 0.00002
NM_032119.4(ADGRV1):c.3838G>A (p.Asp1280Asn) rs184031236 0.00002
NM_032119.4(ADGRV1):c.6797G>A (p.Gly2266Asp) rs771132013 0.00002
NM_032119.4(ADGRV1):c.787G>A (p.Val263Met) rs727505056 0.00002
NM_032119.4(ADGRV1):c.9291T>G (p.Ser3097Arg) rs727505041 0.00002
NM_052867.4(NALCN):c.249G>A (p.Thr83=) rs145910377 0.00002
NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu) rs763353781 0.00002
NM_053025.4(MYLK):c.5155C>T (p.Leu1719=) rs1057523680 0.00002
NM_080680.3(COL11A2):c.1380G>A (p.Gly460=) rs373168555 0.00002
NM_080680.3(COL11A2):c.1714C>A (p.His572Asn) rs751888761 0.00002
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser) rs768902062 0.00002
NM_080680.3(COL11A2):c.3529-3C>T rs753183777 0.00002
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys) rs751612997 0.00002
NM_080680.3(COL11A2):c.4010C>T (p.Ala1337Val) rs756855492 0.00002
NM_080680.3(COL11A2):c.4481C>T (p.Pro1494Leu) rs758796613 0.00002
NM_080680.3(COL11A2):c.4544C>T (p.Ser1515Leu) rs764154647 0.00002
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly) rs568840295 0.00002
NM_130837.3(OPA1):c.1391G>A (p.Gly464Asp) rs752296610 0.00002
NM_130837.3(OPA1):c.215A>C (p.Lys72Thr) rs532878175 0.00002
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys) rs530896300 0.00002
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser) rs397517834 0.00002
NM_170682.4(P2RX2):c.1054G>A (p.Val352Ile) rs775460016 0.00002
NM_177438.3(DICER1):c.184G>A (p.Val62Ile) rs746671039 0.00002
NM_177438.3(DICER1):c.3334A>G (p.Asn1112Asp) rs587778229 0.00002
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp) rs727504985 0.00002
NM_198999.3(SLC26A5):c.636G>T (p.Gly212=) rs770314412 0.00002
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) rs372482918 0.00001
NM_000038.6(APC):c.2642C>T (p.Ser881Phe) rs535344579 0.00001
NM_000038.6(APC):c.3161A>C (p.His1054Pro) rs777538550 0.00001
NM_000038.6(APC):c.3313C>T (p.Arg1105Trp) rs768454793 0.00001
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser) rs151286353 0.00001
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys) rs587779796 0.00001
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu) rs149828124 0.00001
NM_000038.6(APC):c.6403A>G (p.Ile2135Val) rs757633174 0.00001
NM_000038.6(APC):c.7143A>C (p.Gln2381His) rs756153152 0.00001
NM_000038.6(APC):c.8057T>C (p.Val2686Ala) rs757901425 0.00001
NM_000051.4(ATM):c.1634C>T (p.Ala545Val) rs878853485 0.00001
NM_000051.4(ATM):c.1695A>G (p.Glu565=) rs780932013 0.00001
NM_000051.4(ATM):c.2598T>G (p.Val866=) rs730881350 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg) rs527471560 0.00001
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His) rs587781320 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr) rs878853532 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg) rs754395517 0.00001
NM_000051.4(ATM):c.753G>A (p.Val251=) rs876658806 0.00001
NM_000051.4(ATM):c.7566A>G (p.Gln2522=) rs775621333 0.00001
NM_000051.4(ATM):c.858A>G (p.Gln286=) rs145301478 0.00001
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His) rs80358423 0.00001
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys) rs587782535 0.00001
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439 0.00001
NM_000059.4(BRCA2):c.1794A>G (p.Thr598=) rs1159099773 0.00001
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys) rs431825298 0.00001
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met) rs80358541 0.00001
NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr) rs545974734 0.00001
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val) rs41293479 0.00001
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser) rs117187202 0.00001
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg) rs276174845 0.00001
NM_000059.4(BRCA2):c.4901T>C (p.Phe1634Ser) rs80358715 0.00001
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly) rs80358760 0.00001
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn) rs541826447 0.00001
NM_000059.4(BRCA2):c.636A>G (p.Arg212=) rs950724350 0.00001
NM_000059.4(BRCA2):c.6437A>G (p.Asn2146Ser) rs768512381 0.00001
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu) rs276174873 0.00001
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys) rs730881549 0.00001
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu) rs80358934 0.00001
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys) rs80358940 0.00001
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln) rs80358973 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg) rs786204274 0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127 0.00001
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu) rs80359159 0.00001
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala) rs587782568 0.00001
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr) rs397507435 0.00001
NM_000069.3(CACNA1S):c.3256-9G>A rs1294455750 0.00001
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys) rs533353353 0.00001
NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser) rs772750589 0.00001
NM_000088.4(COL1A1):c.2481C>T (p.Gly827=) rs779002822 0.00001
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala) rs766461654 0.00001
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser) rs772638774 0.00001
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met) rs372269408 0.00001
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His) rs753162027 0.00001
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys) rs768671254 0.00001
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp) rs752819997 0.00001
NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr) rs754146345 0.00001
NM_000091.5(COL4A3):c.3264T>G (p.Pro1088=) rs770449474 0.00001
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys) rs753016038 0.00001
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile) rs759828394 0.00001
NM_000092.5(COL4A4):c.2407C>T (p.Leu803=) rs762646235 0.00001
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val) rs758199486 0.00001
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu) rs769138971 0.00001
NM_000092.5(COL4A4):c.303A>T (p.Gly101=) rs1450052915 0.00001
NM_000092.5(COL4A4):c.4273T>C (p.Ser1425Pro) rs764494474 0.00001
NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe) rs575575729 0.00001
NM_000097.7(CPOX):c.557-10C>G rs1553696573 0.00001
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu) rs771134832 0.00001
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941 0.00001
NM_000142.5(FGFR3):c.150C>T (p.Val50=) rs750641928 0.00001
NM_000142.5(FGFR3):c.446-10C>T rs762297923 0.00001
NM_000142.5(FGFR3):c.630G>A (p.Gln210=) rs777091470 0.00001
NM_000143.4(FH):c.1390+6T>A rs1338650106 0.00001
NM_000143.4(FH):c.219G>A (p.Val73=) rs1213056420 0.00001
NM_000143.4(FH):c.414C>T (p.Leu138=) rs540968725 0.00001
NM_000143.4(FH):c.648T>A (p.Asp216Glu) rs199536615 0.00001
NM_000179.3(MSH6):c.1132A>C (p.Arg378=) rs781572949 0.00001
NM_000179.3(MSH6):c.1403G>A (p.Arg468His) rs41295268 0.00001
NM_000179.3(MSH6):c.208A>G (p.Lys70Glu) rs863224621 0.00001
NM_000179.3(MSH6):c.2765G>A (p.Arg922Gln) rs752839086 0.00001
NM_000179.3(MSH6):c.33C>G (p.Phe11Leu) rs747802641 0.00001
NM_000218.3(KCNQ1):c.1198C>G (p.Pro400Ala) rs1489132337 0.00001
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) rs199472694 0.00001
NM_000238.4(KCNH2):c.1128+1810C>T rs972201049 0.00001
NM_000238.4(KCNH2):c.1128+1860C>T rs767264288 0.00001
NM_000238.4(KCNH2):c.2398+25G>T rs761167679 0.00001
NM_000238.4(KCNH2):c.2398+98G>A rs545247794 0.00001
NM_000238.4(KCNH2):c.3448C>A (p.Leu1150Met) rs754883792 0.00001
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu) rs201673334 0.00001
NM_000251.3(MSH2):c.105C>A (p.Arg35=) rs775554736 0.00001
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg) rs776174711 0.00001
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser) rs63751260 0.00001
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu) rs63751403 0.00001
NM_000251.3(MSH2):c.816G>A (p.Ala272=) rs368912987 0.00001
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His) rs199741162 0.00001
NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr) rs730880692 0.00001
NM_000256.3(MYBPC3):c.166G>A (p.Gly56Ser) rs397515918 0.00001
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr) rs727504945 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu) rs546586969 0.00001
NM_000257.4(MYH7):c.4787C>T (p.Ser1596Leu) rs774540446 0.00001
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr) rs149193520 0.00001
NM_000258.3(MYL3):c.220G>A (p.Gly74Arg) rs730880956 0.00001
NM_000260.4(MYO7A):c.2382C>T (p.Phe794=) rs970183279 0.00001
NM_000260.4(MYO7A):c.2487G>A (p.Val829=) rs1452906057 0.00001
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) rs369493667 0.00001
NM_000260.4(MYO7A):c.4993G>A (p.Asp1665Asn) rs759272365 0.00001
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser) rs535102352 0.00001
NM_000260.4(MYO7A):c.5781C>T (p.Phe1927=) rs1167983525 0.00001
NM_000260.4(MYO7A):c.5969A>G (p.Gln1990Arg) rs560293591 0.00001
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val) rs774588125 0.00001
NM_000275.3(OCA2):c.2473A>T (p.Met825Leu) rs763881975 0.00001
NM_000335.5(SCN5A):c.1345A>G (p.Thr449Ala) rs199473571 0.00001
NM_000335.5(SCN5A):c.2379C>T (p.Leu793=) rs758397582 0.00001
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00001
NM_000335.5(SCN5A):c.393-4G>A rs1390882998 0.00001
NM_000335.5(SCN5A):c.4068G>A (p.Ala1356=) rs187370816 0.00001
NM_000363.5(TNNI3):c.340A>G (p.Ile114Val) rs730881070 0.00001
NM_000384.3(APOB):c.12343G>T (p.Val4115Phe) rs765681925 0.00001
NM_000384.3(APOB):c.2398C>A (p.Leu800Met) rs183950016 0.00001
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe) rs748345018 0.00001
NM_000391.4(TPP1):c.1671G>A (p.Leu557=) rs777267276 0.00001
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu) rs751088292 0.00001
NM_000441.2(SLC26A4):c.1344G>A (p.Ser448=) rs768687579 0.00001
NM_000441.2(SLC26A4):c.406A>G (p.Ile136Val) rs759268252 0.00001
NM_000455.5(STK11):c.559G>A (p.Gly187Ser) rs587782032 0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln) rs730881982 0.00001
NM_000458.4(HNF1B):c.66C>A (p.Thr22=) rs906719754 0.00001
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val) rs587779328 0.00001
NM_000535.7(PMS2):c.27A>C (p.Thr9=) rs1060504842 0.00001
NM_000540.3(RYR1):c.10154C>T (p.Ala3385Val) rs772566556 0.00001
NM_000540.3(RYR1):c.10398C>T (p.Asn3466=) rs1335486327 0.00001
NM_000540.3(RYR1):c.12951G>A (p.Val4317=) rs957481378 0.00001
NM_000540.3(RYR1):c.13122G>A (p.Val4374=) rs797045930 0.00001
NM_000540.3(RYR1):c.1909A>G (p.Ile637Val) rs567084532 0.00001
NM_000540.3(RYR1):c.6016-5C>G rs369996114 0.00001
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His) rs530885842 0.00001
NM_000546.6(TP53):c.221C>T (p.Ala74Val) rs587781832 0.00001
NM_000546.6(TP53):c.949C>A (p.Gln317Lys) rs764735889 0.00001
NM_000548.5(TSC2):c.5069-11A>G rs562381623 0.00001
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) rs749031775 0.00001
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys) rs774002530 0.00001
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) rs761378545 0.00001
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=) rs757290350 0.00001
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) rs371760034 0.00001
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) rs535608443 0.00001
NM_000891.3(KCNJ2):c.261C>T (p.Ile87=) rs1166497262 0.00001
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=) rs777477467 0.00001
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala) rs765195368 0.00001
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser) rs753175954 0.00001
NM_001035.3(RYR2):c.10125A>G (p.Arg3375=) rs764396074 0.00001
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) rs533330664 0.00001
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln) rs727504850 0.00001
NM_001037.5(SCN1B):c.266G>A (p.Arg89His) rs138381632 0.00001
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile) rs77106213 0.00001
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845 0.00001
NM_001042492.3(NF1):c.354C>T (p.Cys118=) rs768777585 0.00001
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val) rs587781553 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042681.2(RERE):c.2461T>C (p.Ser821Pro) rs897627996 0.00001
NM_001042681.2(RERE):c.2462C>T (p.Ser821Leu) rs1057518295 0.00001
NM_001077653.2(TBX20):c.891-9C>G rs761878149 0.00001
NM_001080449.3(DNA2):c.27G>A (p.Leu9=) rs1211027535 0.00001
NM_001080517.3(SETD5):c.1260T>G (p.Ala420=) rs931898655 0.00001
NM_001083961.2(WDR62):c.3463-9T>C rs1346976662 0.00001
NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp) rs1016959427 0.00001
NM_001098511.3(KIF2A):c.1024G>A (p.Ala342Thr) rs758143705 0.00001
NM_001101.5(ACTB):c.804C>T (p.Gly268=) rs770089307 0.00001
NM_001105206.3(LAMA4):c.2146G>A (p.Val716Ile) rs141742906 0.00001
NM_001105206.3(LAMA4):c.3311A>G (p.Asn1104Ser) rs542157463 0.00001
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634 0.00001
NM_001110792.2(MECP2):c.723G>T (p.Ser241=) rs782461567 0.00001
NM_001113491.2(SEPTIN9):c.641C>T (p.Ala214Val) rs200850474 0.00001
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) rs769399113 0.00001
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala) rs751675055 0.00001
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met) rs1755340949 0.00001
NM_001128840.3(CACNA1D):c.2562G>A (p.Lys854=) rs1332817040 0.00001
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu) rs770886605 0.00001
NM_001128840.3(CACNA1D):c.6395A>G (p.Asp2132Gly) rs779549091 0.00001
NM_001134363.3(RBM20):c.3662G>A (p.Arg1221His) rs1421547378 0.00001
NM_001145809.2(MYH14):c.3194G>A (p.Arg1065His) rs769362736 0.00001
NM_001148.6(ANK2):c.1252G>A (p.Val418Met) rs760073103 0.00001
NM_001148.6(ANK2):c.1986A>G (p.Gly662=) rs765012746 0.00001
NM_001148.6(ANK2):c.4687A>C (p.Asn1563His) rs1476737595 0.00001
NM_001148.6(ANK2):c.7249G>C (p.Asp2417His) rs372545180 0.00001
NM_001148.6(ANK2):c.7546A>G (p.Ser2516Gly) rs771826064 0.00001
NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu) rs777477439 0.00001
NM_001148.6(ANK2):c.8057T>C (p.Val2686Ala) rs56095304 0.00001
NM_001160372.4(TRAPPC9):c.3148C>T (p.Arg1050Trp) rs563050274 0.00001
NM_001164508.2(NEB):c.6869C>T (p.Ala2290Val) rs756114192 0.00001
NM_001165963.4(SCN1A):c.2520G>T (p.Val840=) rs757851017 0.00001
NM_001195263.2(PDZD7):c.1722G>A (p.Val574=) rs919717592 0.00001
NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=) rs369318229 0.00001
NM_001205293.3(CACNA1E):c.3719+6T>A rs1656338337 0.00001
NM_001205293.3(CACNA1E):c.4606-3C>T rs1037223207 0.00001
NM_001235.5(SERPINH1):c.393C>T (p.Gly131=) rs760571465 0.00001
NM_001242896.3(DEPDC5):c.4359C>T (p.Ser1453=) rs377333936 0.00001
NM_001267550.2(TTN):c.10288A>C (p.Asn3430His) rs376029089 0.00001
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg) rs727504465 0.00001
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn) rs377074955 0.00001
NM_001267550.2(TTN):c.3414A>G (p.Glu1138=) rs777365068 0.00001
NM_001267550.2(TTN):c.77978C>T (p.Pro25993Leu) rs771646684 0.00001
NM_001267550.2(TTN):c.94053G>A (p.Ser31351=) rs777229309 0.00001
NM_001271.4(CHD2):c.4976G>A (p.Ser1659Asn) rs748829883 0.00001
NM_001278116.2(L1CAM):c.1841C>T (p.Pro614Leu) rs1557091552 0.00001
NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys) rs199822230 0.00001
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) rs1557090130 0.00001
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=) rs200813995 0.00001
NM_001278512.2(AP3B2):c.1053C>T (p.His351=) rs1177973989 0.00001
NM_001286577.2(C2CD3):c.3196C>T (p.Leu1066Phe) rs187512156 0.00001
NM_001291303.3(FAT4):c.2896A>G (p.Ile966Val) rs778631726 0.00001
NM_001292063.2(OTOG):c.3124G>T (p.Asp1042Tyr) rs973728066 0.00001
NM_001321759.2(CDIN1):c.26A>G (p.Asp9Gly) rs369346271 0.00001
NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu) rs1198276041 0.00001
NM_001330311.2(DVL1):c.1716G>C (p.Gly572=) rs773112898 0.00001
NM_001330574.2(ZNF711):c.1873C>T (p.Arg625Cys) rs995774322 0.00001
NM_001349338.3(FOXP1):c.1964C>T (p.Ala655Val) rs762475508 0.00001
NM_001349338.3(FOXP1):c.321C>T (p.Ile107=) rs747108471 0.00001
NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile) rs751045102 0.00001
NM_001365276.2(TNXB):c.6550G>A (p.Glu2184Lys) rs754026612 0.00001
NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp) rs574115531 0.00001
NM_001367624.2(ZNF469):c.1768G>A (p.Glu590Lys) rs571115191 0.00001
NM_001367624.2(ZNF469):c.2661C>T (p.Ser887=) rs1906033837 0.00001
NM_001367624.2(ZNF469):c.3040A>G (p.Arg1014Gly) rs1408770467 0.00001
NM_001367624.2(ZNF469):c.7012G>A (p.Gly2338Ser) rs772172396 0.00001
NM_001367624.2(ZNF469):c.7847G>A (p.Arg2616His) rs368063668 0.00001
NM_001367624.2(ZNF469):c.9088G>A (p.Gly3030Ser) rs773580012 0.00001
NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys) rs751235198 0.00001
NM_001367721.1(CASK):c.997G>A (p.Glu333Lys) rs1361659361 0.00001
NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile) rs758404089 0.00001
NM_001374385.1(ATP8B1):c.941-20A>G rs1366870956 0.00001
NM_001374828.1(ARID1B):c.1220G>C (p.Gly407Ala) rs1057522183 0.00001
NM_001376.5(DYNC1H1):c.11721C>A (p.His3907Gln) rs774840535 0.00001
NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr) rs879254018 0.00001
NM_001376.5(DYNC1H1):c.7403A>T (p.Asn2468Ile) rs797045532 0.00001
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val) rs749163361 0.00001
NM_001378183.1(PIEZO2):c.470C>T (p.Pro157Leu) rs1025310776 0.00001
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=) rs572605877 0.00001
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271 0.00001
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln) rs200979896 0.00001
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.4209A>T (p.Gly1403=) rs747929635 0.00001
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=) rs762528364 0.00001
NM_001379200.1(TBX1):c.407G>A (p.Gly136Asp) rs761127806 0.00001
NM_001379500.1(COL18A1):c.107-12491C>T rs749001958 0.00001
NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg) rs200226791 0.00001
NM_001384732.1(CPLANE1):c.7760A>G (p.Glu2587Gly) rs766541647 0.00001
NM_001384732.1(CPLANE1):c.959T>C (p.Ile320Thr) rs886060584 0.00001
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn) rs147115867 0.00001
NM_001457.4(FLNB):c.3176C>T (p.Ala1059Val) rs570950728 0.00001
NM_001457.4(FLNB):c.3209C>T (p.Thr1070Ile) rs201533113 0.00001
NM_001457.4(FLNB):c.4774G>A (p.Val1592Ile) rs754360853 0.00001
NM_001457.4(FLNB):c.6029G>A (p.Arg2010His) rs188216614 0.00001
NM_001457.4(FLNB):c.6310C>T (p.Arg2104Trp) rs751795794 0.00001
NM_001457.4(FLNB):c.6590G>A (p.Arg2197Gln) rs749488943 0.00001
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr) rs576221121 0.00001
NM_001844.5(COL2A1):c.14G>C (p.Gly5Ala) rs557340983 0.00001
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu) rs904660062 0.00001
NM_001844.5(COL2A1):c.151C>T (p.Pro51Ser) rs945234297 0.00001
NM_001844.5(COL2A1):c.1586C>A (p.Ala529Asp) rs370407502 0.00001
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr) rs751436440 0.00001
NM_001844.5(COL2A1):c.2309T>G (p.Val770Gly) rs767686686 0.00001
NM_001844.5(COL2A1):c.2602C>T (p.Pro868Ser) rs770043048 0.00001
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) rs371268468 0.00001
NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile) rs772889503 0.00001
NM_001844.5(COL2A1):c.3083C>T (p.Thr1028Met) rs770907704 0.00001
NM_001844.5(COL2A1):c.3107G>A (p.Arg1036Gln) rs201956851 0.00001
NM_001844.5(COL2A1):c.3119C>T (p.Pro1040Leu) rs978657987 0.00001
NM_001844.5(COL2A1):c.3241C>T (p.Pro1081Ser) rs753709490 0.00001
NM_001844.5(COL2A1):c.3817G>A (p.Glu1273Lys) rs778838205 0.00001
NM_001844.5(COL2A1):c.388G>C (p.Glu130Gln) rs375448469 0.00001
NM_001844.5(COL2A1):c.3950T>C (p.Met1317Thr) rs1555164561 0.00001
NM_001844.5(COL2A1):c.4020G>C (p.Lys1340Asn) rs763777663 0.00001
NM_001844.5(COL2A1):c.4034A>C (p.Lys1345Thr) rs775279845 0.00001
NM_001844.5(COL2A1):c.4185C>T (p.Asn1395=) rs1284508374 0.00001
NM_001844.5(COL2A1):c.4204G>A (p.Glu1402Lys) rs759583931 0.00001
NM_001844.5(COL2A1):c.436C>T (p.Pro146Ser) rs1181216326 0.00001
NM_001846.4(COL4A2):c.403G>A (p.Asp135Asn) rs369865437 0.00001
NM_001853.4(COL9A3):c.1009-12C>A rs752646714 0.00001
NM_001854.4(COL11A1):c.1052A>G (p.Gln351Arg) rs751155680 0.00001
NM_001854.4(COL11A1):c.1054A>T (p.Arg352Trp) rs1402379236 0.00001
NM_001854.4(COL11A1):c.1099G>A (p.Gly367Ser) rs748391176 0.00001
NM_001854.4(COL11A1):c.1100G>A (p.Gly367Asp) rs1402186540 0.00001
NM_001854.4(COL11A1):c.1211G>A (p.Gly404Asp) rs748335883 0.00001
NM_001854.4(COL11A1):c.1708C>T (p.Pro570Ser) rs1194226000 0.00001
NM_001854.4(COL11A1):c.1744C>T (p.Pro582Ser) rs746192125 0.00001
NM_001854.4(COL11A1):c.1776A>T (p.Gly592=) rs1211057639 0.00001
NM_001854.4(COL11A1):c.191G>A (p.Arg64Lys) rs1272896075 0.00001
NM_001854.4(COL11A1):c.2187T>A (p.Asp729Glu) rs754657948 0.00001
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg) rs775660447 0.00001
NM_001854.4(COL11A1):c.2645G>A (p.Arg882His) rs779869745 0.00001
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His) rs368422725 0.00001
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 0.00001
NM_001854.4(COL11A1):c.3076C>T (p.Arg1026Cys) rs377320274 0.00001
NM_001854.4(COL11A1):c.3137G>A (p.Gly1046Glu) rs773157346 0.00001
NM_001854.4(COL11A1):c.3401C>T (p.Pro1134Leu) rs764478054 0.00001
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu) rs753649097 0.00001
NM_001854.4(COL11A1):c.3831A>C (p.Glu1277Asp) rs780739712 0.00001
NM_001854.4(COL11A1):c.3982C>A (p.Gln1328Lys) rs750014974 0.00001
NM_001854.4(COL11A1):c.4581T>A (p.Ser1527Arg) rs146997967 0.00001
NM_001854.4(COL11A1):c.4615C>T (p.Pro1539Ser) rs1374575593 0.00001
NM_001854.4(COL11A1):c.4696G>T (p.Asp1566Tyr) rs780611200 0.00001
NM_001854.4(COL11A1):c.4711G>T (p.Asp1571Tyr) rs1277867710 0.00001
NM_001854.4(COL11A1):c.511G>A (p.Val171Met) rs751182532 0.00001
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr) rs748315186 0.00001
NM_001903.5(CTNNA1):c.1593A>G (p.Gln531=) rs200279871 0.00001
NM_001903.5(CTNNA1):c.1746A>G (p.Thr582=) rs1181337385 0.00001
NM_001903.5(CTNNA1):c.2400G>A (p.Val800=) rs1370483870 0.00001
NM_001903.5(CTNNA1):c.859-7T>G rs374326029 0.00001
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115 0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876 0.00001
NM_002206.3(ITGA7):c.2779C>T (p.Arg927Trp) rs760407686 0.00001
NM_002230.4(JUP):c.266T>C (p.Met89Thr) rs542745694 0.00001
NM_002230.4(JUP):c.661G>A (p.Ala221Thr) rs782076415 0.00001
NM_002230.4(JUP):c.950A>T (p.Gln317Leu) rs782509792 0.00001
NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile) rs527639885 0.00001
NM_002439.5(MSH3):c.1028-5A>T rs774961818 0.00001
NM_002473.6(MYH9):c.3592G>A (p.Val1198Met) rs200732002 0.00001
NM_002473.6(MYH9):c.4741G>A (p.Glu1581Lys) rs566790184 0.00001
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys) rs141184241 0.00001
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile) rs780870767 0.00001
NM_002485.5(NBN):c.666C>T (p.Phe222=) rs876661098 0.00001
NM_002485.5(NBN):c.798G>A (p.Pro266=) rs368786672 0.00001
NM_002528.7(NTHL1):c.-1C>T rs532310992 0.00001
NM_002528.7(NTHL1):c.402C>G (p.Thr134=) rs1169048585 0.00001
NM_002528.7(NTHL1):c.690G>A (p.Val230=) rs756156987 0.00001
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val) rs752444746 0.00001
NM_002691.4(POLD1):c.197C>G (p.Ala66Gly) rs199792522 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln) rs141801845 0.00001
NM_002691.4(POLD1):c.3231C>T (p.Pro1077=) rs770660636 0.00001
NM_002755.4(MAP2K1):c.984A>C (p.Gly328=) rs773755873 0.00001
NM_002834.5(PTPN11):c.957C>T (p.Asn319=) rs771407775 0.00001
NM_002878.4(RAD51D):c.22C>T (p.Leu8=) rs876659203 0.00001
NM_002880.4(RAF1):c.601A>G (p.Ile201Val) rs757700986 0.00001
NM_002890.3(RASA1):c.3133G>T (p.Asp1045Tyr) rs144524710 0.00001
NM_002907.4(RECQL):c.1661A>G (p.Tyr554Cys) rs544884266 0.00001
NM_002907.4(RECQL):c.789G>A (p.Thr263=) rs774302679 0.00001
NM_002941.4(ROBO1):c.2512G>A (p.Val838Ile) rs189089312 0.00001
NM_003000.3(SDHB):c.700C>T (p.Leu234=) rs201728852 0.00001
NM_003070.5(SMARCA2):c.1064C>G (p.Ala355Gly) rs1245060732 0.00001
NM_003070.5(SMARCA2):c.3229T>A (p.Ser1077Thr) rs1388950613 0.00001
NM_003072.5(SMARCA4):c.3846C>T (p.Asn1282=) rs776413354 0.00001
NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu) rs781703999 0.00001
NM_003193.5(TBCE):c.133G>A (p.Glu45Lys) rs199888401 0.00001
NM_003392.7(WNT5A):c.530G>C (p.Trp177Ser) rs1231823028 0.00001
NM_003737.4(DCHS1):c.973C>T (p.Arg325Trp) rs758453554 0.00001
NM_003742.4(ABCB11):c.1350G>T (p.Met450Ile) rs542821407 0.00001
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn) rs201693189 0.00001
NM_003977.4(AIP):c.159C>T (p.Ser53=) rs764878127 0.00001
NM_003977.4(AIP):c.6G>A (p.Ala2=) rs1865725846 0.00001
NM_003977.4(AIP):c.783C>T (p.Tyr261=) rs267606576 0.00001
NM_004004.6(GJB2):c.146C>T (p.Ala49Val) rs1057517976 0.00001
NM_004006.3(DMD):c.9667G>T (p.Ala3223Ser) rs1319200626 0.00001
NM_004187.5(KDM5C):c.3020G>A (p.Arg1007His) rs1556836492 0.00001
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr) rs752390475 0.00001
NM_004304.5(ALK):c.140C>T (p.Ser47Leu) rs541315214 0.00001
NM_004304.5(ALK):c.3839C>T (p.Ala1280Val) rs74716434 0.00001
NM_004360.5(CDH1):c.1132A>C (p.Thr378Pro) rs587781432 0.00001
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met) rs587778170 0.00001
NM_004360.5(CDH1):c.2515G>A (p.Gly839Ser) rs587780121 0.00001
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys) rs748086082 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro) rs772944531 0.00001
NM_004415.4(DSP):c.145A>G (p.Thr49Ala) rs142059019 0.00001
NM_004415.4(DSP):c.1730T>C (p.Met577Thr) rs141956992 0.00001
NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser) rs185367490 0.00001
NM_004415.4(DSP):c.6550G>A (p.Val2184Met) rs774832931 0.00001
NM_004655.4(AXIN2):c.721T>G (p.Cys241Gly) rs370549410 0.00001
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His) rs1023010218 0.00001
NM_004958.4(MTOR):c.6107G>A (p.Arg2036His) rs1642913016 0.00001
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr) rs757751684 0.00001
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His) rs765503816 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_005359.6(SMAD4):c.960T>C (p.Pro320=) rs1568208159 0.00001
NM_005422.4(TECTA):c.5372C>G (p.Pro1791Arg) rs754213928 0.00001
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=) rs1250688041 0.00001
NM_005726.6(TSFM):c.978G>A (p.Ter326=) rs766301009 0.00001
NM_005732.4(RAD50):c.2651G>A (p.Arg884His) rs558302979 0.00001
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) rs149865710 0.00001
NM_006005.3(WFS1):c.693G>A (p.Glu231=) rs149479911 0.00001
NM_006059.4(LAMC3):c.4031-10G>A rs555619019 0.00001
NM_006206.6(PDGFRA):c.1471G>A (p.Ala491Thr) rs563016888 0.00001
NM_006206.6(PDGFRA):c.46A>T (p.Thr16Ser) rs587778596 0.00001
NM_006231.4(POLE):c.1308C>T (p.Pro436=) rs755627156 0.00001
NM_006231.4(POLE):c.2540G>A (p.Arg847Gln) rs534297483 0.00001
NM_006231.4(POLE):c.2706+5G>A rs375931088 0.00001
NM_006231.4(POLE):c.3061-4C>G rs201517516 0.00001
NM_006231.4(POLE):c.391G>T (p.Val131Leu) rs745601745 0.00001
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys) rs985504177 0.00001
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys) rs542430685 0.00001
NM_006231.4(POLE):c.4667G>A (p.Arg1556Gln) rs762965148 0.00001
NM_006231.4(POLE):c.4952+5G>A rs1555222548 0.00001
NM_006231.4(POLE):c.5340C>T (p.Ala1780=) rs1291600656 0.00001
NM_006231.4(POLE):c.5454G>A (p.Val1818=) rs1046972573 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys) rs5745067 0.00001
NM_006231.4(POLE):c.6631C>T (p.Leu2211=) rs769635764 0.00001
NM_006231.4(POLE):c.6646C>T (p.Leu2216=) rs1220762553 0.00001
NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp) rs866548835 0.00001
NM_006231.4(POLE):c.90G>A (p.Ser30=) rs369224511 0.00001
NM_006231.4(POLE):c.910-13T>C rs759098283 0.00001
NM_006231.4(POLE):c.94C>T (p.Leu32Phe) rs781513537 0.00001
NM_006514.4(SCN10A):c.1715C>T (p.Pro572Leu) rs553784643 0.00001
NM_006514.4(SCN10A):c.2209G>A (p.Val737Ile) rs764654464 0.00001
NM_006514.4(SCN10A):c.2483C>T (p.Pro828Leu) rs749000689 0.00001
NM_006514.4(SCN10A):c.4245G>A (p.Gly1415=) rs771909114 0.00001
NM_006514.4(SCN10A):c.5306A>C (p.Asp1769Ala) rs377121469 0.00001
NM_006514.4(SCN10A):c.5446G>A (p.Gly1816Arg) rs779692735 0.00001
NM_006516.4(SLC2A1):c.-2C>T rs587784388 0.00001
NM_006766.5(KAT6A):c.5666G>A (p.Arg1889His) rs1342950357 0.00001
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly) rs900174205 0.00001
NM_006767.4(LZTR1):c.2070-8G>T rs768003361 0.00001
NM_006767.4(LZTR1):c.2310G>A (p.Val770=) rs1226268646 0.00001
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys) rs577018955 0.00001
NM_006922.4(SCN3A):c.4121A>T (p.Asp1374Val) rs377507565 0.00001
NM_006941.4(SOX10):c.981C>A (p.Ala327=) rs949765986 0.00001
NM_006950.3(SYN1):c.364C>T (p.Pro122Ser) rs774818779 0.00001
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val) rs756487822 0.00001
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln) rs751254270 0.00001
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu) rs774886148 0.00001
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr) rs749520121 0.00001
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924 0.00001
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172 0.00001
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln) rs570013652 0.00001
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln) rs80356915 0.00001
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.20G>A (p.Arg7His) rs144792613 0.00001
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met) rs80357209 0.00001
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919 0.00001
NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val) rs587782458 0.00001
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388 0.00001
NM_007294.4(BRCA1):c.4181C>T (p.Thr1394Ile) rs397507226 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys) rs80356942 0.00001
NM_007294.4(BRCA1):c.564A>G (p.Glu188=) rs768065826 0.00001
NM_007294.4(BRCA1):c.716A>G (p.His239Arg) rs80357396 0.00001
NM_007294.4(BRCA1):c.886A>G (p.Arg296Gly) rs748675395 0.00001
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln) rs80357464 0.00001
NM_007325.5(GRIA3):c.328A>G (p.Met110Val) rs756957362 0.00001
NM_007363.5(NONO):c.1172-11_1172-9del rs759524596 0.00001
NM_012062.5(DNM1L):c.198A>G (p.Gln66=) rs764711165 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_014000.3(VCL):c.2852C>G (p.Pro951Arg) rs368570586 0.00001
NM_014225.6(PPP2R1A):c.489G>T (p.Lys163Asn) rs1474301500 0.00001
NM_014254.3(RXYLT1):c.250A>G (p.Ser84Gly) rs745327804 0.00001
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn) rs138328181 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val) rs745664974 0.00001
NM_014727.3(KMT2B):c.3062G>A (p.Arg1021Gln) rs376006013 0.00001
NM_014727.3(KMT2B):c.3604A>G (p.Met1202Val) rs755470297 0.00001
NM_014727.3(KMT2B):c.5429C>T (p.Pro1810Leu) rs1378884779 0.00001
NM_014795.4(ZEB2):c.2365T>C (p.Ser789Pro) rs730881197 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_015338.6(ASXL1):c.1717C>T (p.Arg573Trp) rs373685182 0.00001
NM_015346.4(ZFYVE26):c.1272-10T>C rs773153713 0.00001
NM_015559.3(SETBP1):c.1910C>T (p.Pro637Leu) rs1011541536 0.00001
NM_015559.3(SETBP1):c.3175C>T (p.Pro1059Ser) rs1224731205 0.00001
NM_015570.4(AUTS2):c.3184C>T (p.Pro1062Ser) rs1057521756 0.00001
NM_015909.4(NBAS):c.3839G>A (p.Arg1280Gln) rs149082253 0.00001
NM_016203.4(PRKAG2):c.42T>A (p.Val14=) rs141316327 0.00001
NM_016203.4(PRKAG2):c.703C>T (p.Leu235=) rs1476121151 0.00001
NM_016239.4(MYO15A):c.6530G>A (p.Arg2177Gln) rs575546518 0.00001
NM_016239.4(MYO15A):c.9815G>A (p.Arg3272His) rs199866618 0.00001
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) rs774374213 0.00001
NM_017636.4(TRPM4):c.1515T>A (p.His505Gln) rs1202211366 0.00001
NM_017654.4(SAMD9):c.1052A>T (p.Asp351Val) rs757652918 0.00001
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val) rs573554562 0.00001
NM_017780.4(CHD7):c.839C>G (p.Pro280Arg) rs760775347 0.00001
NM_017837.4(PIGV):c.1317T>C (p.Leu439=) rs959088580 0.00001
NM_017934.7(PHIP):c.4941T>A (p.Val1647=) rs1369466541 0.00001
NM_018129.4(PNPO):c.544G>A (p.Glu182Lys) rs138727329 0.00001
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) rs397517184 0.00001
NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys) rs562472225 0.00001
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys) rs748282723 0.00001
NM_020699.4(GATAD2B):c.1467G>A (p.Thr489=) rs763266883 0.00001
NM_020717.5(SHROOM4):c.769C>T (p.Arg257Cys) rs1064796301 0.00001
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665 0.00001
NM_020937.4(FANCM):c.5717-4T>A rs781258517 0.00001
NM_020975.6(RET):c.2166G>T (p.Lys722Asn) rs527726480 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021728.4(OTX2):c.150G>A (p.Arg50=) rs1246931412 0.00001
NM_022124.6(CDH23):c.10033A>C (p.Met3345Leu) rs368597074 0.00001
NM_022124.6(CDH23):c.1135-10C>G rs749236786 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile) rs776280813 0.00001
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224 0.00001
NM_024334.3(TMEM43):c.99G>A (p.Ser33=) rs147710692 0.00001
NM_024422.6(DSC2):c.1081G>A (p.Val361Met) rs751810874 0.00001
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met) rs756497616 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) rs142103232 0.00001
NM_024675.4(PALB2):c.1662A>G (p.Glu554=) rs786202692 0.00001
NM_024675.4(PALB2):c.1697G>A (p.Arg566His) rs144617793 0.00001
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg) rs773831304 0.00001
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn) rs730881892 0.00001
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp) rs515726108 0.00001
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu) rs556060060 0.00001
NM_030665.4(RAI1):c.1758G>C (p.Lys586Asn) rs756134541 0.00001
NM_030665.4(RAI1):c.469T>C (p.Tyr157His) rs1289033749 0.00001
NM_031407.7(HUWE1):c.10145G>C (p.Ser3382Thr) rs782307186 0.00001
NM_031407.7(HUWE1):c.1142A>C (p.Gln381Pro) rs1012962799 0.00001
NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile) rs375025827 0.00001
NM_032119.4(ADGRV1):c.11947G>A (p.Ala3983Thr) rs774167945 0.00001
NM_032119.4(ADGRV1):c.13495C>T (p.Arg4499Cys) rs567519802 0.00001
NM_032119.4(ADGRV1):c.14353A>G (p.Ile4785Val) rs773654115 0.00001
NM_032119.4(ADGRV1):c.14521T>C (p.Phe4841Leu) rs763840800 0.00001
NM_032119.4(ADGRV1):c.18214C>T (p.Leu6072Phe) rs769391232 0.00001
NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln) rs766225545 0.00001
NM_032119.4(ADGRV1):c.328G>A (p.Glu110Lys) rs876657822 0.00001
NM_032119.4(ADGRV1):c.4463G>A (p.Arg1488Gln) rs748876967 0.00001
NM_032119.4(ADGRV1):c.6332T>C (p.Ile2111Thr) rs776199730 0.00001
NM_032119.4(ADGRV1):c.754A>G (p.Ile252Val) rs1299020576 0.00001
NM_032119.4(ADGRV1):c.7664A>G (p.Lys2555Arg) rs1284659275 0.00001
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr) rs533540279 0.00001
NM_032578.4(MYPN):c.1876G>A (p.Asp626Asn) rs754064567 0.00001
NM_032638.5(GATA2):c.1020G>A (p.Ser340=) rs370166358 0.00001
NM_033380.3(COL4A5):c.3095T>C (p.Met1032Thr) rs754487739 0.00001
NM_033380.3(COL4A5):c.3141T>C (p.Ser1047=) rs1350852221 0.00001
NM_052867.4(NALCN):c.4466G>A (p.Arg1489His) rs149644813 0.00001
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr) rs145191000 0.00001
NM_053025.4(MYLK):c.4700G>A (p.Arg1567Gln) rs757766496 0.00001
NM_058195.4(CDKN2A):c.-39G>A rs1064793537 0.00001
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln) rs577852020 0.00001
NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu) rs730881927 0.00001
NM_058216.3(RAD51C):c.234A>G (p.Thr78=) rs730881929 0.00001
NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln) rs762813373 0.00001
NM_080680.3(COL11A2):c.1399G>A (p.Val467Met) rs755731113 0.00001
NM_080680.3(COL11A2):c.143G>A (p.Arg48Gln) rs760502556 0.00001
NM_080680.3(COL11A2):c.2346C>A (p.Asp782Glu) rs769588312 0.00001
NM_080680.3(COL11A2):c.2356C>T (p.Pro786Ser) rs997884133 0.00001
NM_080680.3(COL11A2):c.2510G>A (p.Arg837Gln) rs773908748 0.00001
NM_080680.3(COL11A2):c.2518C>T (p.Arg840Trp) rs769151199 0.00001
NM_080680.3(COL11A2):c.2519G>A (p.Arg840Gln) rs538425732 0.00001
NM_080680.3(COL11A2):c.3118C>A (p.Pro1040Thr) rs759919085 0.00001
NM_080680.3(COL11A2):c.3326C>A (p.Pro1109His) rs751465004 0.00001
NM_080680.3(COL11A2):c.3335C>A (p.Pro1112His) rs759086485 0.00001
NM_080680.3(COL11A2):c.3392G>A (p.Arg1131Gln) rs529015303 0.00001
NM_080680.3(COL11A2):c.3609T>G (p.Val1203=) rs768558233 0.00001
NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys) rs780613380 0.00001
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His) rs1219133025 0.00001
NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln) rs727504832 0.00001
NM_080680.3(COL11A2):c.4307C>T (p.Pro1436Leu) rs1338682682 0.00001
NM_080680.3(COL11A2):c.4970G>T (p.Gly1657Val) rs1300439797 0.00001
NM_080680.3(COL11A2):c.5083C>T (p.Arg1695Trp) rs534700620 0.00001
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln) rs781633250 0.00001
NM_080680.3(COL11A2):c.689G>A (p.Gly230Glu) rs143571317 0.00001
NM_130837.3(OPA1):c.212G>A (p.Arg71His) rs766106312 0.00001
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp) rs143252541 0.00001
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg) rs139106405 0.00001
NM_130837.3(OPA1):c.3017C>G (p.Ala1006Gly) rs577055148 0.00001
NM_130837.3(OPA1):c.517G>A (p.Val173Ile) rs778997114 0.00001
NM_130837.3(OPA1):c.626C>T (p.Thr209Met) rs772596317 0.00001
NM_130837.3(OPA1):c.661G>A (p.Asp221Asn) rs367814426 0.00001
NM_130837.3(OPA1):c.89T>C (p.Leu30Pro) rs758056583 0.00001
NM_133379.5(TTN):c.14656A>G (p.Asn4886Asp) rs753546575 0.00001
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile) rs184603559 0.00001
NM_144672.4(OTOA):c.1807-6T>C rs767786513 0.00001
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln) rs375352888 0.00001
NM_144997.7(FLCN):c.257G>A (p.Arg86Gln) rs765550303 0.00001
NM_145239.3(PRRT2):c.883C>T (p.Arg295Trp) rs200185554 0.00001
NM_152594.3(SPRED1):c.196A>C (p.Arg66=) rs751923342 0.00001
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile) rs369150309 0.00001
NM_170707.4(LMNA):c.111G>A (p.Glu37=) rs886038906 0.00001
NM_172362.3(KCNH1):c.2054C>T (p.Thr685Met) rs1349830428 0.00001
NM_173076.3(ABCA12):c.212T>A (p.Leu71Gln) rs776056801 0.00001
NM_182476.3(COQ6):c.982G>A (p.Ala328Thr) rs564107029 0.00001
NM_182961.4(SYNE1):c.600A>T (p.Val200=) rs781563259 0.00001
NM_194248.3(OTOF):c.222C>G (p.Ser74Arg) rs764474318 0.00001
NM_194248.3(OTOF):c.2282G>A (p.Arg761Gln) rs141544736 0.00001
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln) rs760896684 0.00001
NM_194248.3(OTOF):c.5553G>C (p.Leu1851=) rs747844017 0.00001
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892 0.00001
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290 0.00001
NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln) rs527644737 0.00001
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu) rs374096293 0.00001
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met) rs727504686 0.00001
NM_206933.4(USH2A):c.15052+8A>G rs773109018 0.00001
NM_206933.4(USH2A):c.6153T>A (p.Thr2051=) rs754250829 0.00001
NM_212482.4(FN1):c.3951C>T (p.Asp1317=) rs763439987 0.00001
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) rs199826743
NM_000038.6(APC):c.4702GAT[3] (p.Asp1571del) rs587782888
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys) rs72541813
NM_000038.6(APC):c.5378C>G (p.Ala1793Gly) rs764203580
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del) rs587782002
NM_000038.6(APC):c.5840C>G (p.Thr1947Ser) rs575724078
NM_000051.4(ATM):c.1227T>C (p.Leu409=) rs1060504273
NM_000051.4(ATM):c.2723T>C (p.Val908Ala) rs754738085
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.4(ATM):c.5675-4T>A rs56075338
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.4(ATM):c.7500C>T (p.Val2500=) rs1060504286
NM_000051.4(ATM):c.8631G>A (p.Leu2877=) rs1064794840
NM_000052.7(ATP7A):c.2131G>C (p.Val711Leu) rs782268170
NM_000057.4(BLM):c.387_389del (p.Lys130del) rs587778105
NM_000059.4(BRCA2):c.1355T>C (p.Leu452Pro) rs753512842
NM_000059.4(BRCA2):c.1860T>G (p.Phe620Leu) rs1064793402
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly) rs80358495
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.3772A>G (p.Ile1258Val) rs587782720
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr) rs80358646
NM_000059.4(BRCA2):c.4320A>C (p.Lys1440Asn) rs769535925
NM_000059.4(BRCA2):c.4513A>G (p.Thr1505Ala) rs80358682
NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr) rs730881536
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro) rs730881538
NM_000059.4(BRCA2):c.5763T>G (p.Phe1921Leu) rs730881540
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val) rs786202701
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn) rs80358863
NM_000059.4(BRCA2):c.6369A>C (p.Glu2123Asp) rs1064793571
NM_000059.4(BRCA2):c.6448A>C (p.Lys2150Gln) rs1403648108
NM_000059.4(BRCA2):c.644A>G (p.Glu215Gly) rs1198988757
NM_000059.4(BRCA2):c.6841+3A>T rs81002825
NM_000059.4(BRCA2):c.7051G>T (p.Ala2351Ser) rs80358930
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val) rs431825352
NM_000059.4(BRCA2):c.7370T>G (p.Phe2457Cys) rs876661273
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp) rs28897750
NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys) rs80359112
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg) rs587782779
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup) rs80359749
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala) rs574271678
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr) rs587782313
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu) rs276174926
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn) rs143202536
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys) rs144590408
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) rs757840865
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser) rs774300377
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln) rs201310235
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro) rs201310235
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del) rs587780668
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000078.3(CETP):c.1456G>A (p.Val486Met)
NM_000088.4(COL1A1):c.6C>T (p.Phe2=)
NM_000089.4(COL1A2):c.880G>T (p.Val294Phe) rs145693444
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000091.5(COL4A3):c.2794G>T (p.Ala932Ser)
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg) rs55849096
NM_000091.5(COL4A3):c.4669G>C (p.Ala1557Pro)
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000092.5(COL4A4):c.1404A>G (p.Gln468=) rs774673142
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg)
NM_000092.5(COL4A4):c.2060C>T (p.Pro687Leu)
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr) rs200761108
NM_000092.5(COL4A4):c.273A>G (p.Lys91=)
NM_000092.5(COL4A4):c.3309A>C (p.Gly1103=)
NM_000092.5(COL4A4):c.4349T>A (p.Ile1450Asn) rs72969704
NM_000092.5(COL4A4):c.866G>A (p.Arg289His)
NM_000092.5(COL4A4):c.879T>A (p.Ser293=) rs2150788345
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys) rs143979792
NM_000094.4(COL7A1):c.5609G>A (p.Arg1870His)
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000124.4(ERCC6):c.3004T>A (p.Tyr1002Asn)
NM_000124.4(ERCC6):c.3628A>G (p.Lys1210Glu)
NM_000124.4(ERCC6):c.4039A>G (p.Thr1347Ala)
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000142.5(FGFR3):c.1646-11C>A rs763302590
NM_000143.4(FH):c.1390+5G>A rs1352808353
NM_000143.4(FH):c.739-17TTTTC[2] rs745617145
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu) rs369068553
NM_000166.6(GJB1):c.659G>A (p.Arg220Gln) rs1057524799
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp) rs864622397
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu) rs202066386
NM_000179.3(MSH6):c.4002-11_4002-10del rs59056100
NM_000179.3(MSH6):c.4068G>A (p.Leu1356=) rs192740549
NM_000179.3(MSH6):c.432C>T (p.Ser144=) rs1046304919
NM_000179.3(MSH6):c.818G>T (p.Gly273Val) rs769610487
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val) rs1554892764
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098
NM_000212.3(ITGB3):c.2249G>A (p.Arg750Gln)
NM_000213.5(ITGB4):c.2521G>A (p.Ala841Thr)
NM_000213.5(ITGB4):c.3265G>C (p.Gly1089Arg)
NM_000213.5(ITGB4):c.3810G>A (p.Met1270Ile)
NM_000213.5(ITGB4):c.4709-8C>A rs371797130
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn) rs140691492
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000245.4(MET):c.3936-13_3936-10del rs745366999
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys) rs773647920
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile) rs267608022
NM_000251.3(MSH2):c.507A>G (p.Ile169Met) rs748762580
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly) rs730880633
NM_000256.3(MYBPC3):c.1822C>T (p.Pro608Ser) rs730880552
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser) rs771753579
NM_000256.3(MYBPC3):c.2504_2505delinsTT (p.Arg835Leu) rs1595843667
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His) rs782176754
NM_000260.4(MYO7A):c.2405G>A (p.Arg802His)
NM_000260.4(MYO7A):c.2468G>A (p.Arg823His) rs533027065
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu) rs565162134
NM_000260.4(MYO7A):c.3388C>T (p.Leu1130=) rs782397974
NM_000260.4(MYO7A):c.4153-8C>A rs143216377
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.5349C>A (p.Asp1783Glu) rs201008835
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val) rs948962
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile) rs544709413
NM_000260.4(MYO7A):c.984G>A (p.Leu328=)
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000306.4(POU1F1):c.666-8C>G rs182127067
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000313.4(PROS1):c.1644+4A>T
NM_000314.6(PTEN):c.-868G>C rs587782133
NM_000314.8(PTEN):c.-838C>T rs786201900
NM_000314.8(PTEN):c.79+7A>T rs374331677
NM_000316.3(PTH1R):c.182G>A (p.Ser61Asn) rs187585108
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser) rs756474485
NM_000335.5(SCN5A):c.393-5C>T rs368678204
NM_000335.5(SCN5A):c.5648C>T (p.Pro1883Leu) rs755162776
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000350.3(ABCA4):c.677G>A (p.Arg226His) rs144310835
NM_000350.3(ABCA4):c.677G>T (p.Arg226Leu) rs144310835
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
NM_000384.3(APOB):c.4676C>T (p.Ala1559Val) rs549741449
NM_000384.3(APOB):c.4754A>T (p.Asn1585Ile) rs549983245
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.7619G>T (p.Gly2540Val) rs571626569
NM_000384.3(APOB):c.9242G>A (p.Ser3081Asn) rs72653100
NM_000387.6(SLC25A20):c.779_781del (p.Glu260del) rs754871147
NM_000412.5(HRG):c.99del (p.Ala34fs) rs563237107
NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys) rs56173620
NM_000441.2(SLC26A4):c.732C>G (p.Thr244=) rs2129311968
NM_000455.5(STK11):c.863-5_863-3del rs764739106
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu) rs386654966
NM_000465.4(BARD1):c.1644G>A (p.Lys548=) rs1064796411
NM_000465.4(BARD1):c.2191C>T (p.Arg731Cys) rs76744638
NM_000478.6(ALPL):c.1503C>T (p.Ser501=) rs1644757548
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000494.4(COL17A1):c.1339G>T (p.Gly447Cys) rs200223042
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000515.5(GH1):c.7A>C (p.Thr3Pro) rs2001345
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg) rs587780041
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1733G>A (p.Arg578His) rs63750770
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala) rs1805318
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu) rs137932199
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000540.3(RYR1):c.13113C>G (p.Ala4371=) rs1599635569
NM_000540.3(RYR1):c.14304-6C>A rs794728693
NM_000540.3(RYR1):c.166-3dup rs745926203
NM_000540.3(RYR1):c.2168-3dup rs1555770306
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.3(RYR1):c.7028-13T>C rs773283518
NM_000545.8(HNF1A):c.-124G>C rs563304627
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000546.6(TP53):c.66A>G (p.Leu22=) rs748527030
NM_000546.6(TP53):c.783-16_783-15del rs1064793810
NM_000548.5(TSC2):c.3102C>T (p.Val1034=) rs562998574
NM_000660.7(TGFB1):c.86G>A (p.Gly29Glu) rs199758510
NM_000719.7(CACNA1C):c.3462C>A (p.Ala1154=)
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr) rs367895193
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu) rs886043512
NM_000807.4(GABRA2):c.1219_1220delinsAA (p.Ala407Lys) rs1553895447
NM_000843.4(GRM6):c.58_72del (p.Trp20_Ala24del) rs1189206125
NM_000939.4(POMC):c.394C>G (p.Pro132Ala) rs8192606
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg) rs397516998
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met) rs770909247
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala) rs756376477
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001008537.3(NEXMIF):c.3347G>C (p.Cys1116Ser) rs2080102020
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del) rs771434359
NM_001012759.3(CTU2):c.1509_1512dup (p.Ile505fs)
NM_001012759.3(CTU2):c.424T>C (p.Phe142Leu)
NM_001017995.3(SH3PXD2B):c.45G>A (p.Val15=)
NM_001025356.3(ANO6):c.2572G>A (p.Asp858Asn)
NM_001025616.3(ARHGAP24):c.1442C>T (p.Thr481Met) rs147870358
NM_001031679.3(MSRB3):c.-118del rs574256598
NM_001032386.2(SUOX):c.1636T>A (p.Ter546Arg) rs574353697
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser) rs779910353
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del) rs794728835
NM_001037333.3(CYFIP2):c.2584C>G (p.Arg862Gly)
NM_001038.6(SCNN1A):c.2004dup (p.Pro669fs) rs761663786
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) rs144653364
NM_001039591.3(USP9X):c.3140T>C (p.Met1047Thr)
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) rs111588143
NM_001040142.2(SCN2A):c.1399G>T (p.Ala467Ser) rs745774658
NM_001040436.3(YARS2):c.780-11T>C
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu) rs1555612276
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_001042681.2(RERE):c.1745C>T (p.Ser582Leu)
NM_001042681.2(RERE):c.2449_2460dup (p.Pro817_Pro820dup) rs749071713
NM_001042681.2(RERE):c.3570GGAGCG[2] (p.1192RE[4]) rs201570536
NM_001042750.2(STAG2):c.1822-16TAT[2] rs1356736514
NM_001069.3(TUBB2A):c.344C>T (p.Ser115Leu)
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001080414.4(CCDC88C):c.2066C>G (p.Ser689Cys)
NM_001080414.4(CCDC88C):c.5161G>A (p.Gly1721Arg)
NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)
NM_001080453.3(INTS1):c.230G>A (p.Arg77His)
NM_001080453.3(INTS1):c.6139A>G (p.Met2047Val)
NM_001080477.4(TENM3):c.3331A>G (p.Met1111Val)
NM_001080517.3(SETD5):c.2324G>A (p.Gly775Asp) rs1453766111
NM_001080517.3(SETD5):c.327C>T (p.Cys109=)
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del) rs797046038
NM_001083614.2(EARS2):c.1292G>C (p.Gly431Ala) rs112604556
NM_001089.3(ABCA3):c.115C>G (p.Leu39Val)
NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter) rs765669597
NM_001099404.2(SCN5A):c.655C>T (p.Arg219Ter) rs577421914
NM_001100913.3(PACS2):c.527G>A (p.Ser176Asn) rs782204977
NM_001100913.3(PACS2):c.725C>G (p.Thr242Arg) rs780880602
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val) rs727503116
NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys)
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001113491.2(SEPTIN9):c.791C>T (p.Ala264Val) rs745391514
NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup) rs1057518615
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp) rs139163545
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr) rs147933585
NM_001128840.3(CACNA1D):c.3376G>T (p.Val1126Leu)
NM_001128840.3(CACNA1D):c.5936G>A (p.Arg1979Gln) rs143354476
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3]) rs1204097562
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001136193.2(FASTKD2):c.1207C>G (p.Leu403Val)
NM_001142864.4(PIEZO1):c.2545C>T (p.Arg849Cys)
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
NM_001142864.4(PIEZO1):c.7234C>G (p.Arg2412Gly) rs577922766
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463
NM_001145809.2(MYH14):c.594A>T (p.Gly198=) rs1195002362
NM_001148.6(ANK2):c.10976G>A (p.Arg3659His) rs556640912
NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu) rs556640912
NM_001148.6(ANK2):c.11522C>T (p.Pro3841Leu) rs767769233
NM_001148.6(ANK2):c.2460CAC[4] (p.Thr826del) rs770530257
NM_001148.6(ANK2):c.4555G>T (p.Ala1519Ser) rs200920714
NM_001148.6(ANK2):c.4940G>A (p.Cys1647Tyr) rs2095548237
NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp) rs147706514
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del) rs774514148
NM_001148.6(ANK2):c.7106T>G (p.Val2369Gly) rs28377576
NM_001148.6(ANK2):c.7985C>T (p.Ser2662Phe) rs1564029811
NM_001148.6(ANK2):c.8140G>A (p.Val2714Ile) rs753223319
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del) rs532224704
NM_001194998.2(CEP152):c.3071G>T (p.Arg1024Leu) rs199914670
NM_001197104.2(KMT2A):c.1519C>G (p.Pro507Ala) rs191014566
NM_001199799.2(ILDR1):c.1358G>A (p.Arg453Gln)
NM_001199799.2(ILDR1):c.661C>T (p.Arg221Cys) rs182963279
NM_001205293.3(CACNA1E):c.2177A>T (p.Lys726Ile) rs2102509840
NM_001205293.3(CACNA1E):c.4692G>A (p.Leu1564=) rs2102723150
NM_001205293.3(CACNA1E):c.6229C>T (p.Arg2077Cys) rs370905391
NM_001220.5(CAMK2B):c.1568del (p.Pro523fs)
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001244008.2(KIF1A):c.720+5G>C rs377502239
NM_001256053.2(ANKRD26):c.1815-2_1815del rs564681878
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001267550.2(TTN):c.32054C>T (p.Ala10685Val) rs794729407
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del) rs763098227
NM_001267550.2(TTN):c.4227A>G (p.Ser1409=) rs2154346890
NM_001267550.2(TTN):c.43987A>C (p.Lys14663Gln) rs1271800091
NM_001267550.2(TTN):c.44812G>A (p.Val14938Met)
NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly) rs781195013
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser) rs531242797
NM_001267550.2(TTN):c.55303-1G>A rs748369265
NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser) rs886039082
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile) rs534567766
NM_001267550.2(TTN):c.82574C>T (p.Thr27525Met) rs1321989289
NM_001267550.2(TTN):c.90870C>T (p.Val30290=) rs794729527
NM_001267550.2(TTN):c.93168A>T (p.Arg31056=) rs1202181464
NM_001277058.2(ERCC6):c.2378A>G (p.Tyr793Cys)
NM_001277115.2(DNAH11):c.4945-5T>G rs886038468
NM_001277269.2(OTOG):c.7517-5_7518dup rs1295062471
NM_001282531.3(ADNP):c.3099T>C (p.Tyr1033=)
NM_001286577.2(C2CD3):c.1448T>C (p.Leu483Pro)
NM_001287491.2(TET3):c.3638G>A (p.Gly1213Asp)
NM_001288705.3(CSF1R):c.487A>G (p.Thr163Ala)
NM_001288705.3(CSF1R):c.592+5G>A
NM_001291303.3(FAT4):c.2705TGG[1] (p.Val903del) rs541157165
NM_001292063.2(OTOG):c.4102C>A (p.Arg1368=)
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His) rs766229978
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001312909.2(FAM111A):c.1285C>A (p.Pro429Thr) rs149508004
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001349206.2(LPIN1):c.1852G>A (p.Gly618Arg) rs146100011
NM_001349206.2(LPIN1):c.928C>T (p.Leu310=) rs757007907
NM_001349338.3(FOXP1):c.1162A>T (p.Ser388Cys)
NM_001349338.3(FOXP1):c.184C>T (p.Leu62Phe) rs538443416
NM_001349338.3(FOXP1):c.665-7_665-4del rs1453915867
NM_001349338.3(FOXP1):c.728A>G (p.Glu243Gly)
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr) rs202020443
NM_001356.5(DDX3X):c.1203C>T (p.Ile401=)
NM_001356.5(DDX3X):c.1815_1817del (p.Ser606del) rs2063940085
NM_001358921.2(COQ2):c.421-9T>C
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly) rs143471358
NM_001364905.1(LRBA):c.114G>T (p.Gly38=) rs72721739
NM_001365276.2(TNXB):c.3763C>G (p.Arg1255Gly) rs376472382
NM_001365276.2(TNXB):c.4244C>T (p.Ala1415Val) rs770309992
NM_001365276.2(TNXB):c.5285G>A (p.Arg1762Gln)
NM_001365276.2(TNXB):c.5603C>T (p.Thr1868Met)
NM_001365276.2(TNXB):c.5870A>G (p.His1957Arg)
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile) rs140304758
NM_001365276.2(TNXB):c.7493-4del rs1352801514
NM_001365276.2(TNXB):c.9242T>C (p.Met3081Thr)
NM_001365999.1(SZT2):c.5089-4_5089-3del rs762645558
NM_001365999.1(SZT2):c.5603-11A>G rs199939853
NM_001365999.1(SZT2):c.5687C>T (p.Pro1896Leu)
NM_001365999.1(SZT2):c.8420-13C>G rs368330210
NM_001367624.2(ZNF469):c.10079G>T (p.Ser3360Ile) rs929128705
NM_001367624.2(ZNF469):c.10327G>A (p.Gly3443Arg)
NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val) rs530393871
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg) rs571184307
NM_001367624.2(ZNF469):c.4343_4344delinsTA (p.Pro1448Leu)
NM_001367624.2(ZNF469):c.457C>A (p.Pro153Thr) rs532620482
NM_001367624.2(ZNF469):c.535G>A (p.Gly179Ser)
NM_001367624.2(ZNF469):c.6978C>G (p.His2326Gln) rs185282301
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile) rs886043704
NM_001367624.2(ZNF469):c.7861G>A (p.Val2621Met)
NM_001367624.2(ZNF469):c.8077C>T (p.Pro2693Ser)
NM_001367624.2(ZNF469):c.9242C>A (p.Thr3081Lys)
NM_001367721.1(CASK):c.1314+5_1314+8del rs772325722
NM_001369268.1(ACAN):c.5318T>C (p.Leu1773Pro)
NM_001369268.1(ACAN):c.7531C>T (p.Arg2511Trp)
NM_001371928.1(AHDC1):c.3628G>A (p.Glu1210Lys)
NM_001371986.1(UNC80):c.1079G>T (p.Arg360Leu) rs532329476
NM_001371986.1(UNC80):c.398G>C (p.Gly133Ala) rs138421862
NM_001375524.1(TRRAP):c.3196T>C (p.Tyr1066His) rs2116509058
NM_001376.5(DYNC1H1):c.2971A>G (p.Met991Val) rs1057518524
NM_001376.5(DYNC1H1):c.6871G>A (p.Val2291Met)
NM_001377265.1(MAPT):c.1156G>A (p.Val386Met) rs747178896
NM_001378328.1(CELSR1):c.366_386dup (p.Gly129_Ala130insThrGlyAlaArgLeuCysGly)
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser) rs3813227
NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu) rs77517267
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile) rs1131691296
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala) rs369650940
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378457.1(DMXL2):c.7214-10C>A
NM_001378609.3(OTOGL):c.1712-3C>A
NM_001378609.3(OTOGL):c.2270T>C (p.Phe757Ser)
NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup) rs774578030
NM_001379500.1(COL18A1):c.107-12112_107-12111delinsTT rs1555853999
NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg) rs199786639
NM_001384140.1(PCDH15):c.3341T>G (p.Val1114Gly) rs563855694
NM_001384140.1(PCDH15):c.372A>G (p.Lys124=)
NM_001384474.1(LOXHD1):c.4096-7del rs1314985669
NM_001385.3(DPYS):c.1506del (p.Arg503fs) rs79080341
NM_001394062.1(MACF1):c.15828A>C (p.Lys5276Asn)
NM_001394062.1(MACF1):c.18710T>C (p.Leu6237Pro)
NM_001395413.1(POR):c.1405G>A (p.Val469Met) rs72557946
NM_001457.4(FLNB):c.1327G>A (p.Val443Ile) rs200902568
NM_001457.4(FLNB):c.1367G>A (p.Arg456Gln) rs377737248
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys) rs139875974
NM_001457.4(FLNB):c.7760G>T (p.Trp2587Leu) rs144321868
NM_001486.4(GCKR):c.1337_1338delinsCC (p.Leu446Pro) rs2148586064
NM_001486.4(GCKR):c.1555G>A (p.Ala519Thr)
NM_001486.4(GCKR):c.548_549del (p.Ser183fs)
NM_001510.4(GRID2):c.2032C>G (p.Pro678Ala)
NM_001715.3(BLK):c.473-7C>G rs200091252
NM_001715.3(BLK):c.574C>G (p.Arg192Gly)
NM_001792.5(CDH2):c.2103C>T (p.Cys701=) rs751271722
NM_001792.5(CDH2):c.2603G>A (p.Gly868Glu)
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser) rs755043901
NM_001844.5(COL2A1):c.1129G>T (p.Ala377Ser) rs1045330263
NM_001844.5(COL2A1):c.146C>T (p.Pro49Leu)
NM_001844.5(COL2A1):c.2485C>G (p.Pro829Ala) rs745794356
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala) rs1271505111
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)
NM_001844.5(COL2A1):c.3316C>T (p.Arg1106Trp) rs374036874
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser) rs147750391
NM_001844.5(COL2A1):c.4005C>T (p.Asn1335=)
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg) rs763352763
NM_001844.5(COL2A1):c.4436T>C (p.Val1479Ala) rs1414146646
NM_001844.5(COL2A1):c.505C>A (p.Pro169Thr) rs770027510
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_001845.6(COL4A1):c.2144G>T (p.Arg715Leu) rs199573161
NM_001846.4(COL4A2):c.3169C>G (p.Pro1057Ala) rs201763437
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001851.6(COL9A1):c.1396-6T>C rs1360782538
NM_001851.6(COL9A1):c.468A>T (p.Ser156=)
NM_001851.6(COL9A1):c.559G>A (p.Val187Met) rs773143381
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu) rs146700420
NM_001852.4(COL9A2):c.480G>A (p.Pro160=) rs745522018
NM_001852.4(COL9A2):c.747T>G (p.His249Gln) rs747499674
NM_001853.4(COL9A3):c.701G>C (p.Arg234Pro) rs150885737
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro) rs141036911
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=) rs760330151
NM_001854.4(COL11A1):c.2003T>C (p.Met668Thr) rs767790003
NM_001854.4(COL11A1):c.3069A>G (p.Ala1023=)
NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln)
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met) rs184606223
NM_001854.4(COL11A1):c.67G>T (p.Ala23Ser) rs1386580787
NM_001854.4(COL11A1):c.787C>A (p.Pro263Thr) rs372319750
NM_001903.5(CTNNA1):c.1311C>G (p.Ala437=) rs777730458
NM_001903.5(CTNNA1):c.1547-11T>A rs1763590511
NM_001904.4(CTNNB1):c.2042C>T (p.Ser681Phe) rs772401455
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001953.5(TYMP):c.1321C>T (p.His441Tyr) rs781153870
NM_001953.5(TYMP):c.190G>A (p.Gly64Arg) rs767063709
NM_001953.5(TYMP):c.910G>A (p.Asp304Asn) rs570438867
NM_001987.5(ETV6):c.843C>G (p.Pro281=)
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser) rs149733159
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_002168.4(IDH2):c.695C>T (p.Ala232Val) rs1227626398
NM_002181.4(IHH):c.228_229delinsAA (p.Arg77Ser) rs886043368
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu) rs139069413
NM_002250.3(KCNN4):c.1018C>A (p.His340Asn)
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup) rs72555376
NM_002471.4(MYH6):c.2717G>A (p.Arg906His) rs527636904
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn) rs878854502
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) rs762745890
NM_002473.6(MYH9):c.2267T>C (p.Ile756Thr)
NM_002473.6(MYH9):c.2728A>C (p.Lys910Gln)
NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu) rs200697030
NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn) rs147031322
NM_002473.6(MYH9):c.4406C>T (p.Ala1469Val)
NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp) rs569541375
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu) rs151058774
NM_002528.7(NTHL1):c.373C>T (p.Leu125=) rs1397440217
NM_002528.7(NTHL1):c.384G>C (p.Leu128=) rs755185485
NM_002528.7(NTHL1):c.526-10T>G rs199771569
NM_002528.7(NTHL1):c.564G>A (p.Leu188=) rs1596219422
NM_002528.7(NTHL1):c.585C>T (p.Asp195=) rs2150941343
NM_002528.7(NTHL1):c.705C>T (p.His235=) rs992194912
NM_002528.7(NTHL1):c.792-3C>T rs3087467
NM_002615.7(SERPINF1):c.392C>A (p.Ala131Asp) rs148005190
NM_002691.4(POLD1):c.2717+11G>A rs753506843
NM_002691.4(POLD1):c.632G>A (p.Arg211His) rs373192520
NM_002693.3(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002700.3(POU4F3):c.228C>T (p.Pro76=) rs1581278124
NM_002878.4(RAD51D):c.412A>C (p.Asn138His) rs141690729
NM_002887.4(RARS1):c.741G>A (p.Met247Ile)
NM_002907.4(RECQL):c.644G>T (p.Arg215Leu) rs561515655
NM_002907.4(RECQL):c.701-10_701-7del rs770192412
NM_002941.4(ROBO1):c.4378C>A (p.Pro1460Thr)
NM_002972.4(SBF1):c.1333-6C>G rs781476014
NM_003002.4(SDHD):c.269C>T (p.Ala90Val) rs200255724
NM_003070.5(SMARCA2):c.4575AGA[1] (p.Glu1527del)
NM_003072.5(SMARCA4):c.924G>A (p.Thr308=) rs944736912
NM_003108.4(SOX11):c.456_467del (p.Gly153_Gly156del) rs774530705
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) rs200829664
NM_003322.6(TULP1):c.829-7C>G rs780382505
NM_003394.4(WNT10B):c.854T>C (p.Ile285Thr)
NM_003476.5(CSRP3):c.324C>T (p.Ser108=)
NM_003477.3(PDHX):c.343-7A>C rs764804589
NM_003482.4(KMT2D):c.2256_2282del (p.746RPEEPHLSP[1]) rs587783707
NM_003632.3(CNTNAP1):c.170-6C>G
NM_003718.5(CDK13):c.1906_1908del (p.Lys636del)
NM_003737.4(DCHS1):c.1936C>G (p.Arg646Gly) rs199875933
NM_003737.4(DCHS1):c.7207C>T (p.Arg2403Trp) rs141901540
NM_003737.4(DCHS1):c.8611C>T (p.Arg2871Trp)
NM_003737.4(DCHS1):c.8972G>A (p.Arg2991Gln) rs200152314
NM_003835.4(RGS9):c.313_314delinsGG (p.Thr105Gly) rs797044755
NM_003850.3(SUCLA2):c.-3_-2del rs570547911
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del) rs752009611
NM_004064.5(CDKN1B):c.-31AG[1] rs774454456
NM_004092.4(ECHS1):c.22C>T (p.Leu8=)
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe) rs369639811
NM_004187.5(KDM5C):c.3088C>T (p.Arg1030Trp) rs782388435
NM_004230.4(S1PR2):c.429C>T (p.Asp143=) rs774990809
NM_004281.4(BAG3):c.1541A>G (p.Asn514Ser) rs1564776999
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys) rs587778111
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala) rs749792302
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup) rs587782476
NM_004360.5(CDH1):c.671G>T (p.Arg224Leu) rs201511530
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met) rs189356869
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser) rs138599871
NM_004415.4(DSP):c.5798C>G (p.Ser1933Cys)
NM_004525.3(LRP2):c.169G>T (p.Ala57Ser) rs147295930
NM_004525.3(LRP2):c.3932G>A (p.Arg1311His) rs140748929
NM_004560.4(ROR2):c.623-11G>A rs1350375399
NM_004588.5(SCN2B):c.578C>G (p.Thr193Arg) rs115353159
NM_004588.5(SCN2B):c.625_626delinsCC (p.Asn209Pro) rs1064796044
NM_004614.5(TK2):c.520G>C (p.Val174Leu) rs149036717
NM_004618.5(TOP3A):c.1103A>G (p.Asn368Ser)
NM_004655.4(AXIN2):c.1404CCA[5] (p.His474del) rs570443161
NM_004655.4(AXIN2):c.2012G>C (p.Arg671Pro) rs765845684
NM_004715.5(CTDP1):c.1728GGA[6] (p.Glu582del) rs3833180
NM_004817.4(TJP2):c.2027G>C (p.Arg676Thr)
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3]) rs760152519
NM_004958.4(MTOR):c.1713_1715del (p.Thr572del) rs1228888866
NM_004958.4(MTOR):c.5485_5505dup (p.Thr1829_Ala1835dup) rs1643098054
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup) rs770515802
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_005199.5(CHRNG):c.734TCA[1] (p.Ile246del) rs747062636
NM_005245.4(FAT1):c.10424C>G (p.Pro3475Arg)
NM_005245.4(FAT1):c.12421C>G (p.Leu4141Val)
NM_005245.4(FAT1):c.4434C>G (p.Ile1478Met)
NM_005245.4(FAT1):c.8524G>A (p.Gly2842Ser)
NM_005247.4(FGF3):c.484C>A (p.Arg162=)
NM_005262.3(GFER):c.216G>A (p.Arg72=) rs755279097
NM_005262.3(GFER):c.591C>G (p.Asp197Glu) rs28738719
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg) rs35428353
NM_005276.4(GPD1):c.380A>G (p.Asn127Ser) rs111241046
NM_005337.5(NCKAP1L):c.455G>A (p.Arg152Gln)
NM_005343.4(HRAS):c.102C>G (p.Pro34=) rs149199691
NM_005343.4(HRAS):c.21G>C (p.Val7=)
NM_005359.6(SMAD4):c.756A>G (p.Gly252=) rs1244121412
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_005422.4(TECTA):c.4009G>A (p.Ala1337Thr)
NM_005422.4(TECTA):c.4021G>A (p.Ala1341Thr)
NM_005422.4(TECTA):c.4578G>A (p.Gln1526=)
NM_005458.8(GABBR2):c.23G>A (p.Gly8Glu) rs950352036
NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly) rs1830289381
NM_005458.8(GABBR2):c.422T>C (p.Ile141Thr) rs1588236381
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005502.4(ABCA1):c.3554A>G (p.Asn1185Ser) rs148328750
NM_005502.4(ABCA1):c.749C>T (p.Pro250Leu)
NM_005515.4(MNX1):c.576GCACCCCGC[1] (p.193HPA[1]) rs528990697
NM_005557.4(KRT16):c.769G>A (p.Glu257Lys)
NM_005559.4(LAMA1):c.6200C>G (p.Ala2067Gly) rs143853128
NM_005559.4(LAMA1):c.7213G>A (p.Asp2405Asn)
NM_005560.6(LAMA5):c.6940C>T (p.Arg2314Trp)
NM_005591.4(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro) rs148637964
NM_005591.4(MRE11):c.19C>T (p.Leu7Phe) rs73517551
NM_005629.4(SLC6A8):c.778-8C>G rs781860529
NM_005633.4(SOS1):c.1977T>A (p.Asp659Glu) rs1362181978
NM_005633.4(SOS1):c.3770C>T (p.Thr1257Ile) rs962478091
NM_005883.3(APC2):c.4957C>G (p.Arg1653Gly)
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu) rs576080629
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) rs886043349
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_006005.3(WFS1):c.1681A>G (p.Ile561Val) rs766673431
NM_006005.3(WFS1):c.2027G>A (p.Arg676His) rs143055296
NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg) rs557048986
NM_006005.3(WFS1):c.672G>A (p.Gln224=) rs1224486316
NM_006015.6(ARID1A):c.945C>T (p.Asp315=)
NM_006031.6(PCNT):c.7977G>T (p.Gln2659His) rs2070426
NM_006059.4(LAMC3):c.1939G>C (p.Gly647Arg) rs144242690
NM_006059.4(LAMC3):c.42_50dup (p.Pro15_Ala17dup) rs1057520165
NM_006073.4(TRDN):c.1365G>A (p.Glu455=) rs1452206168
NM_006231.4(POLE):c.-6G>A rs534524789
NM_006231.4(POLE):c.-6G>C rs534524789
NM_006231.4(POLE):c.1021-20C>G rs1064796140
NM_006231.4(POLE):c.1257G>A (p.Val419=) rs1565973352
NM_006231.4(POLE):c.1360-6C>A rs139836643
NM_006231.4(POLE):c.1781C>T (p.Thr594Ile) rs574033788
NM_006231.4(POLE):c.2727G>A (p.Gln909=) rs1555226055
NM_006231.4(POLE):c.286-8_286-7del rs2043139110
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.4461C>T (p.Ile1487=) rs536917758
NM_006231.4(POLE):c.4680C>T (p.Asp1560=) rs774425403
NM_006231.4(POLE):c.5502C>T (p.Asp1834=) rs1555221903
NM_006231.4(POLE):c.602T>C (p.Ile201Thr) rs375209004
NM_006231.4(POLE):c.6192C>T (p.Phe2064=) rs1555220905
NM_006231.4(POLE):c.6271C>T (p.Pro2091Ser) rs572252265
NM_006231.4(POLE):c.6498C>T (p.Asp2166=) rs946547049
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006361.6(HOXB13):c.216G>T (p.Gly72=) rs769145488
NM_006361.6(HOXB13):c.303C>T (p.Ala101=)
NM_006361.6(HOXB13):c.64G>A (p.Gly22Arg) rs539706443
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006514.4(SCN10A):c.2062G>A (p.Gly688Ser) rs779931477
NM_006514.4(SCN10A):c.2161C>T (p.Pro721Ser) rs747114420
NM_006514.4(SCN10A):c.2476G>A (p.Asp826Asn) rs199535863
NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly)
NM_006514.4(SCN10A):c.3108C>T (p.Val1036=) rs970173552
NM_006514.4(SCN10A):c.3361C>A (p.Arg1121Ser) rs146965005
NM_006514.4(SCN10A):c.3361C>T (p.Arg1121Cys) rs146965005
NM_006514.4(SCN10A):c.4762C>T (p.Arg1588Ter) rs142537392
NM_006514.4(SCN10A):c.5023C>A (p.Pro1675Thr) rs758877832
NM_006514.4(SCN10A):c.542A>C (p.Glu181Ala) rs142203439
NM_006563.5(KLF1):c.978G>A (p.Leu326=)
NM_006579.3(EBP):c.38C>G (p.Pro13Arg)
NM_006766.5(KAT6A):c.2806C>A (p.Pro936Thr) rs367785766
NM_006766.5(KAT6A):c.3327A>T (p.Glu1109Asp)
NM_006766.5(KAT6A):c.4529C>T (p.Thr1510Ile) rs1281540872
NM_006766.5(KAT6A):c.5195A>G (p.Tyr1732Cys)
NM_006766.5(KAT6A):c.5629C>T (p.Arg1877Cys)
NM_006766.5(KAT6A):c.571G>T (p.Val191Leu) rs1057523324
NM_006767.4(LZTR1):c.1314G>A (p.Glu438=)
NM_006767.4(LZTR1):c.1616-4del
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His) rs372417941
NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro) rs770312150
NM_006767.4(LZTR1):c.2326-10G>A rs778909787
NM_006767.4(LZTR1):c.2326-11T>G rs1421950903
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala) rs756485244
NM_006767.4(LZTR1):c.26G>T (p.Gly9Val) rs756485244
NM_006767.4(LZTR1):c.384C>T (p.Ser128=)
NM_006796.3(AFG3L2):c.867C>T (p.Phe289=)
NM_006947.4(SRP72):c.1089A>G (p.Glu363=)
NM_006947.4(SRP72):c.1408C>T (p.Leu470=)
NM_006996.3(SLC19A2):c.42G>A (p.Ala14=)
NM_007055.4(POLR3A):c.1771-5C>G rs199733994
NM_007055.4(POLR3A):c.1771-7C>A rs201314157
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) rs587781960
NM_007194.4(CHEK2):c.612G>T (p.Leu204=) rs752876192
NM_007215.4(POLG2):c.39C>G (p.Val13=) rs969072131
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007294.4(BRCA1):c.1534C>G (p.Leu512Val) rs41286294
NM_007294.4(BRCA1):c.2964A>G (p.Ser988=) rs1064796061
NM_007294.4(BRCA1):c.2998G>A (p.Glu1000Lys) rs80357124
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val) rs80356899
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr) rs483353090
NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val) rs397509121
NM_007294.4(BRCA1):c.423A>G (p.Glu141=) rs777102216
NM_007294.4(BRCA1):c.4941C>A (p.Asn1647Lys) rs80357302
NM_007294.4(BRCA1):c.5106A>G (p.Lys1702=) rs1060504574
NM_007294.4(BRCA1):c.5175A>C (p.Glu1725Asp) rs191373374
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.889A>C (p.Met297Leu) rs80357196
NM_007294.4(BRCA1):c.953A>G (p.His318Arg) rs776278453
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro) rs80357252
NM_007317.3(KIF22):c.576G>A (p.Ser192=) rs11545431
NM_007325.5(GRIA3):c.43G>A (p.Val15Ile)
NM_012079.6(DGAT1):c.820C>A (p.Arg274=) rs199537660
NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu) rs200089613
NM_012233.3(RAB3GAP1):c.2800C>T (p.Pro934Ser) rs77535003
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met) rs755451488
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012469.4(PRPF6):c.2431+15_2431+36dup rs771425756
NM_013275.6(ANKRD11):c.1652_1666del (p.Trp551_Ser555del) rs780150752
NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del) rs145997327
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_014000.3(VCL):c.1296_1297inv (p.Arg433Cys)
NM_014208.3(DSPP):c.2002AGT[1] (p.Ser669del) rs745344342
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val) rs567650774
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
NM_014391.3(ANKRD1):c.346-11T>A rs1371295947
NM_014687.4(RUBCN):c.2429G>A (p.Arg810Gln)
NM_014727.3(KMT2B):c.1693C>T (p.Pro565Ser)
NM_014727.3(KMT2B):c.2797G>A (p.Gly933Arg)
NM_014727.3(KMT2B):c.4025C>T (p.Thr1342Ile)
NM_014727.3(KMT2B):c.4198C>T (p.Arg1400Cys)
NM_014727.3(KMT2B):c.4534G>A (p.Asp1512Asn)
NM_014727.3(KMT2B):c.475A>T (p.Thr159Ser)
NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del) rs730881214
NM_014804.3(KIAA0753):c.2678C>G (p.Pro893Arg) rs112740973
NM_014915.3(ANKRD26):c.228A>C (p.Arg76Ser)
NM_014915.3(ANKRD26):c.371A>T (p.Gln124Leu) rs200100926
NM_014915.3(ANKRD26):c.4651G>A (p.Glu1551Lys)
NM_014915.3(ANKRD26):c.521C>G (p.Ala174Gly)
NM_014956.5(CEP164):c.380C>A (p.Pro127His) rs143659874
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del) rs769558791
NM_015178.3(RHOBTB2):c.248G>A (p.Trp83Ter) rs1357068280
NM_015311.3(OBSL1):c.4732_4733inv (p.Gln1578Trp)
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter) rs140825693
NM_015338.6(ASXL1):c.2616C>T (p.Cys872=)
NM_015346.4(ZFYVE26):c.3248_3253del (p.Leu1083_Ser1084del) rs761454264
NM_015378.4(VPS13D):c.1103A>T (p.Asp368Val)
NM_015378.4(VPS13D):c.276G>T (p.Glu92Asp)
NM_015378.4(VPS13D):c.5270A>T (p.Asp1757Val)
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) rs150586098
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly) rs796052596
NM_015466.4(PTPN23):c.2856GCCCCA[2] (p.954QP[1]) rs552397269
NM_015466.4(PTPN23):c.2856GCCCCA[4] (p.954QP[3]) rs552397269
NM_015559.3(SETBP1):c.1058_1059delinsTC (p.Asp353Val) rs2145095402
NM_015559.3(SETBP1):c.160C>T (p.Arg54Cys) rs1325528399
NM_015559.3(SETBP1):c.2740C>T (p.Arg914Trp)
NM_015559.3(SETBP1):c.3900GAG[1] (p.Arg1301del) rs754546927
NM_015559.3(SETBP1):c.3961C>T (p.Arg1321Cys)
NM_015559.3(SETBP1):c.470G>A (p.Ser157Asn)
NM_015570.4(AUTS2):c.995C>A (p.Pro332His) rs757432625
NM_015634.4(KIFBP):c.557G>A (p.Arg186His)
NM_015662.3(IFT172):c.1525-6C>G rs201231401
NM_015909.4(NBAS):c.3610A>G (p.Thr1204Ala)
NM_016011.5(MECR):c.246C>T (p.Ile82=)
NM_016030.6(TRAPPC12):c.1759G>A (p.Gly587Ser) rs111556571
NM_016111.4(TELO2):c.1969G>A (p.Val657Met)
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu) rs574213477
NM_016180.5(SLC45A2):c.953G>T (p.Arg318Leu) rs142299109
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734
NM_016222.4(DDX41):c.138+5G>A rs187714514
NM_016222.4(DDX41):c.1563C>T (p.Gly521=)
NM_016222.4(DDX41):c.189G>C (p.Gln63His)
NM_016239.4(MYO15A):c.1630C>T (p.Arg544Cys)
NM_016239.4(MYO15A):c.2257G>C (p.Ala753Pro) rs776096881
NM_016239.4(MYO15A):c.2513C>T (p.Ser838Leu)
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His) rs200587502
NM_016239.4(MYO15A):c.5194G>C (p.Val1732Leu) rs377309887
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser) rs200355614
NM_016239.4(MYO15A):c.8513A>C (p.Asn2838Thr)
NM_016239.4(MYO15A):c.9190G>C (p.Asp3064His) rs182977390
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val) rs201422605
NM_016373.4(WWOX):c.*200GGGCT[1] rs144412859
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) rs199511589
NM_016495.6(TBC1D7):c.467G>A (p.Arg156Gln)
NM_016604.4(KDM3B):c.3871T>C (p.Ser1291Pro) rs2126994153
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017534.6(MYH2):c.1068G>C (p.Thr356=) rs116419997
NM_017547.4(FOXRED1):c.470C>T (p.Ser157Leu) rs778727697
NM_017565.4(FAM20A):c.134C>A (p.Pro45Gln)
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser) rs531420022
NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs) rs765535147
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs) rs375515095
NM_017654.4(SAMD9):c.2715G>A (p.Leu905=)
NM_017654.4(SAMD9):c.3243T>C (p.Asn1081=)
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His) rs373866304
NM_017757.3(ZNF407):c.391C>G (p.Leu131Val)
NM_017780.4(CHD7):c.7460C>T (p.Ala2487Val) rs1349434680
NM_017852.5(NLRP2):c.1010G>A (p.Arg337Gln)
NM_017852.5(NLRP2):c.1496_1498dup (p.Tyr499dup) rs753221956
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_018006.5(TRMU):c.660C>T (p.Gly220=)
NM_018006.5(TRMU):c.773-12_773-9del rs863224241
NM_018026.4(PACS1):c.2305G>A (p.Asp769Asn) rs751638632
NM_018026.4(PACS1):c.460C>A (p.Leu154Ile) rs2134698831
NM_018122.5(DARS2):c.228-10C>G rs201817953
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.9539_9540delinsCA (p.Gln3180Pro) rs2125088445
NM_018669.6(WDR4):c.188C>T (p.Ala63Val)
NM_018993.4(RIN2):c.2260G>A (p.Glu754Lys) rs375974979
NM_019023.5(PRMT7):c.1951TTC[1] (p.Phe652del) rs562766169
NM_019885.4(CYP26B1):c.1417C>A (p.Arg473Ser) rs61751056
NM_020320.5(RARS2):c.772-3del rs368859792
NM_020320.5(RARS2):c.772-4_772-3del rs368859792
NM_020320.5(RARS2):c.818G>T (p.Arg273Leu) rs139721632
NM_020461.4(TUBGCP6):c.4322C>T (p.Pro1441Leu) rs201730639
NM_020461.4(TUBGCP6):c.5327C>G (p.Ser1776Cys) rs374204240
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del) rs562829310
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs) rs527847958
NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr) rs150028343
NM_020778.5(ALPK3):c.168C>T (p.His56=)
NM_020778.5(ALPK3):c.3682C>T (p.Arg1228Trp) rs537104966
NM_020937.4(FANCM):c.3663T>C (p.Phe1221=) rs772996800
NM_020937.4(FANCM):c.4859AAG[2] (p.Glu1622del) rs765421461
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro) rs142607078
NM_022081.6(HPS4):c.860G>C (p.Gly287Ala) rs571151621
NM_022095.4(ZNF335):c.131C>G (p.Ala44Gly)
NM_022114.4(PRDM16):c.2815C>G (p.Leu939Val) rs150022595
NM_022124.6(CDH23):c.240G>A (p.Val80=)
NM_022124.6(CDH23):c.4390G>T (p.Ala1464Ser) rs756674688
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.7873-8C>G rs376526400
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp) rs147278787
NM_022455.5(NSD1):c.622G>A (p.Gly208Arg) rs1581091469
NM_022773.4(LMF1):c.1036A>G (p.Met346Val) rs201767825
NM_022773.4(LMF1):c.1061G>A (p.Arg354Gln)
NM_022773.4(LMF1):c.1184C>T (p.Thr395Ile)
NM_023067.4(FOXL2):c.672_674del (p.Ala234del) rs779509486
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup) rs138489552
NM_024101.7(MLPH):c.992G>A (p.Arg331Gln) rs113169138
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del) rs746639451
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024537.4(CARS2):c.1683dup (p.Ser562fs) rs575601185
NM_024675.4(PALB2):c.2616G>T (p.Val872=) rs1567215519
NM_024675.4(PALB2):c.3054G>T (p.Glu1018Asp) rs183489969
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_025074.7(FRAS1):c.3514G>A (p.Asp1172Asn)
NM_025114.4(CEP290):c.251-4del rs759170743
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025207.5(FLAD1):c.503A>G (p.Asn168Ser) rs150372864
NM_030662.4(MAP2K2):c.49A>G (p.Thr17Ala) rs397517415
NM_030665.4(RAI1):c.1616C>T (p.Pro539Leu) rs2032158187
NM_030665.4(RAI1):c.5172G>T (p.Arg1724=) rs766240657
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832
NM_031307.4(PUS3):c.-47+3A>G
NM_031475.3(ESPN):c.451T>A (p.Phe151Ile) rs139223525
NM_032043.3(BRIP1):c.1170C>T (p.Val390=) rs754755989
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032119.4(ADGRV1):c.1049C>A (p.Thr350Asn) rs727504607
NM_032119.4(ADGRV1):c.10997A>G (p.Glu3666Gly)
NM_032119.4(ADGRV1):c.12632G>A (p.Arg4211Gln) rs768374513
NM_032119.4(ADGRV1):c.15293A>C (p.Glu5098Ala)
NM_032119.4(ADGRV1):c.16249G>A (p.Val5417Ile) rs375876245
NM_032119.4(ADGRV1):c.16999A>T (p.Met5667Leu) rs201767389
NM_032119.4(ADGRV1):c.18092T>C (p.Ile6031Thr)
NM_032119.4(ADGRV1):c.2264T>C (p.Leu755Pro)
NM_032119.4(ADGRV1):c.3222A>G (p.Ile1074Met) rs751404994
NM_032119.4(ADGRV1):c.5018G>C (p.Gly1673Ala)
NM_032119.4(ADGRV1):c.505C>T (p.Leu169Phe) rs952062982
NM_032119.4(ADGRV1):c.8291C>G (p.Ser2764Trp) rs16869016
NM_032119.4(ADGRV1):c.896A>G (p.Tyr299Cys)
NM_032119.4(ADGRV1):c.9261A>T (p.Arg3087Ser)
NM_032119.4(ADGRV1):c.9896T>A (p.Ile3299Asn)
NM_032444.4(SLX4):c.258AAG[1] (p.Arg87del) rs536289991
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032578.4(MYPN):c.1445G>A (p.Arg482Lys) rs773665854
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032856.5(WDR73):c.1132dup (p.Arg378fs) rs747109506
NM_032888.4(COL27A1):c.4120C>G (p.Leu1374Val) rs150399981
NM_033004.4(NLRP1):c.3721G>A (p.Val1241Ile) rs11653832
NM_033028.5(BBS4):c.1106+3A>G rs886038704
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del) rs397517467
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs) rs1338600699
NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs) rs568470164
NM_033109.5(PNPT1):c.1563G>A (p.Lys521=) rs863224169
NM_033118.4(MYLK2):c.254G>A (p.Gly85Glu) rs727505328
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup) rs762175290
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.639A>G (p.Gly213=) rs2147770243
NM_052865.4(MGME1):c.842A>G (p.His281Arg)
NM_052867.4(NALCN):c.3852C>A (p.Gly1284=) rs772803115
NM_052867.4(NALCN):c.5127G>A (p.Ala1709=) rs111638537
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) rs368390254
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala) rs370212314
NM_058216.3(RAD51C):c.572-11del rs587780258
NM_080680.3(COL11A2):c.1063C>T (p.Arg355Cys) rs774410925
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.1637G>T (p.Arg546Leu)
NM_080680.3(COL11A2):c.2033C>A (p.Pro678Gln)
NM_080680.3(COL11A2):c.2220G>T (p.Glu740Asp) rs202032297
NM_080680.3(COL11A2):c.2647G>A (p.Gly883Ser)
NM_080680.3(COL11A2):c.2843C>A (p.Pro948Gln)
NM_080680.3(COL11A2):c.2843C>T (p.Pro948Leu) rs779187034
NM_080680.3(COL11A2):c.3343C>A (p.Pro1115Thr) rs372806452
NM_080680.3(COL11A2):c.3554G>A (p.Arg1185Gln) rs771004504
NM_080680.3(COL11A2):c.3554G>C (p.Arg1185Pro) rs771004504
NM_080680.3(COL11A2):c.361C>T (p.Arg121Cys) rs553025178
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser) rs374515005
NM_080680.3(COL11A2):c.3698G>A (p.Arg1233His)
NM_080680.3(COL11A2):c.3749C>T (p.Pro1250Leu)
NM_080680.3(COL11A2):c.3830C>A (p.Pro1277His) rs777156156
NM_080680.3(COL11A2):c.3830C>G (p.Pro1277Arg) rs777156156
NM_080680.3(COL11A2):c.3961-7C>A rs1361986900
NM_080680.3(COL11A2):c.3992G>A (p.Arg1331Gln) rs146082418
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu) rs142890313
NM_080680.3(COL11A2):c.4344C>G (p.Ile1448Met) rs554269032
NM_080680.3(COL11A2):c.4395A>G (p.Gly1465=)
NM_080680.3(COL11A2):c.4933G>A (p.Val1645Ile) rs556677734
NM_130837.3(OPA1):c.1590T>A (p.Asn530Lys) rs863224137
NM_130837.3(OPA1):c.1838A>C (p.Glu613Ala) rs949979832
NM_130837.3(OPA1):c.1996G>A (p.Val666Ile) rs200756304
NM_130837.3(OPA1):c.2873-10C>G rs2109277041
NM_130837.3(OPA1):c.442G>A (p.Asp148Asn)
NM_130837.3(OPA1):c.696C>T (p.Leu232=) rs375209295
NM_130837.3(OPA1):c.712C>G (p.Gln238Glu) rs1131691832
NM_130837.3(OPA1):c.785G>A (p.Arg262His) rs201202646
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732
NM_133261.3(GIPC3):c.679G>T (p.Gly227Trp) rs202075236
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_138295.5(PKD1L1):c.3158G>A (p.Arg1053His) rs10274334
NM_138477.4(CDAN1):c.3639T>C (p.Cys1213=)
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu) rs137876115
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del) rs794729091
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del) rs727505124
NM_144672.4(OTOA):c.57A>T (p.Gly19=) rs749912295
NM_148897.3(SDR9C7):c.718C>T (p.Arg240Cys)
NM_152703.5(SAMD9L):c.2037T>G (p.Phe679Leu) rs188902048
NM_152703.5(SAMD9L):c.4718T>A (p.Ile1573Asn) rs371764964
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.1831G>T (p.Val611Phe) rs560416690
NM_170606.3(KMT2C):c.3283A>G (p.Arg1095Gly) rs760716705
NM_170707.4(LMNA):c.937-8C>G rs751707982
NM_173076.3(ABCA12):c.2638G>C (p.Val880Leu) rs146002078
NM_173076.3(ABCA12):c.746T>C (p.Met249Thr)
NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup) rs767432277
NM_173689.7(CRB2):c.471C>G (p.His157Gln) rs113157023
NM_173689.7(CRB2):c.883G>A (p.Ala295Thr) rs74778545
NM_174889.5(NDUFAF2):c.491del (p.Gly164fs) rs753595274
NM_174916.3(UBR1):c.752G>T (p.Cys251Phe)
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg) rs201454653
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) rs141867978
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_177438.3(DICER1):c.2191G>A (p.Glu731Lys) rs869025262
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_178335.3(CCDC50):c.1231C>T (p.Pro411Ser) rs138707536
NM_178335.3(CCDC50):c.33G>A (p.Leu11=)
NM_182925.5(FLT4):c.3023C>T (p.Pro1008Leu) rs149033942
NM_182961.4(SYNE1):c.12607_12609delinsAAA (p.Glu4203Lys) rs2096322019
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_183357.3(ADCY5):c.2890G>T (p.Ala964Ser)
NM_183357.3(ADCY5):c.30G>A (p.Pro10=)
NM_183357.3(ADCY5):c.982G>A (p.Gly328Ser) rs749154761
NM_194248.3(OTOF):c.2436G>A (p.Leu812=) rs2148051340
NM_194248.3(OTOF):c.2457C>T (p.His819=)
NM_194248.3(OTOF):c.3720C>T (p.Ser1240=)
NM_194248.3(OTOF):c.4417G>A (p.Gly1473Ser)
NM_194248.3(OTOF):c.481C>T (p.Arg161Trp) rs377378925
NM_194248.3(OTOF):c.5193-3del
NM_194248.3(OTOF):c.5475C>A (p.Pro1825=) rs760178516
NM_194248.3(OTOF):c.5479C>A (p.Arg1827=) rs142748621
NM_198525.3(KIF7):c.2079C>A (p.Val693=) rs113112856
NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp) rs118049905
NM_201525.4(ADGRG1):c.412A>C (p.Thr138Pro) rs560954695
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) rs142639223
NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp) rs61733968
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe) rs372858877
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu) rs35309576
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser) rs541022183
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val) rs150729680
NM_206933.4(USH2A):c.3812-3_3837dup rs780071028
NM_206933.4(USH2A):c.5891G>A (p.Arg1964His) rs149465057
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His) rs189748047
NM_207346.3(TSEN54):c.315A>T (p.Ser105=)
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup) rs570476408
NM_207361.6(FREM2):c.850G>C (p.Val284Leu) rs770004356
NM_207361.6(FREM2):c.87GCT[8] (p.Leu38_Ser39insLeu)

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