ClinVar Miner

Variants with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
ClinVar version:

Total variants with conflicting interpretations: 7094

HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg) rs351855 0.26099
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_016335.6(PRODH):c.1292G>A (p.Arg431His) rs2904552 0.06735
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06710
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000569.8(FCGR3A):c.197T>A (p.Leu66His) rs10127939 0.04855
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_001001548.3(CD36):c.975T>G (p.Tyr325Ter) rs3211938 0.02669
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02284
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NG_012820.2(ANK1):g.104072G>A rs183894680 0.01664
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837 0.01176
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716 0.00999
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_000512.5(GALNS):c.121-210C>T rs75552025 0.00974
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_006446.5(SLCO1B1):c.481+1G>T rs77271279 0.00934
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
UGT1A1*6 rs4148323 0.00891
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068 0.00859
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
NM_001902.6(CTH):c.200C>T (p.Thr67Ile) rs28941785 0.00693
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro) rs118020901 0.00680
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
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_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885 0.00569
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser) rs61742739 0.00531
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_001127496.3(SPRY4):c.841G>A (p.Val281Ile) rs142439525 0.00522
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_016335.6(PRODH):c.865T>A (p.Leu289Met) rs137852934 0.00464
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_013337.4(TIMM22):c.97G>C (p.Val33Leu) rs149879547 0.00440
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362 0.00410
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_016327.3(UPB1):c.254C>A (p.Ala85Glu) rs34035085 0.00401
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro) rs116420871 0.00367
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_001453.3(FOXC1):c.*734A>T rs35717904 0.00356
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00354
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_006715.4(MAN2C1):c.2303G>A (p.Arg768Gln) rs62029711 0.00344
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter) rs74315364 0.00334
NM_005035.4(POLRMT):c.2608G>A (p.Asp870Asn) rs139383492 0.00323
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_020361.5(CPA6):c.809C>T (p.Ala270Val) rs114402678 0.00300
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00299
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) rs117475706 0.00292
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_002711.4(PPP1R3A):c.1985_1986del (p.Gln662fs) rs527638422 0.00279
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) rs114706984 0.00254
NM_022336.4(EDAR):c.43G>A (p.Val15Ile) rs151195196 0.00254
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_001363.5(DKC1):c.-142C>G rs199422241 0.00229
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) rs111294855 0.00212
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NC_000007.14:g.107660756T>C rs60284988 0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) rs139084702 0.00200
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp) rs185919705 0.00200
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_003356.4(UCP3):c.427C>T (p.Arg143Ter) rs104894319 0.00194
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_015717.5(CD207):c.790T>C (p.Trp264Arg) rs200837270 0.00189
NM_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412 0.00188
NM_006179.5(NTF4):c.616C>T (p.Arg206Trp) rs121918427 0.00183
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057 0.00174
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_006659.4(TUBGCP2):c.997C>T (p.Arg333Cys) rs34832477 0.00166
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu) rs72549326 0.00149
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_003060.4(SLC22A5):c.-149G>A rs57262206 0.00144
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00143
NM_001077415.3(CRELD1):c.320G>A (p.Arg107His) rs28941780 0.00139
NM_000506.3(F2):c.598G>A (p.Glu200Lys) rs62623459 0.00138
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001195129.2(PRSS56):c.904G>T (p.Val302Phe) rs74703359 0.00131
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968 0.00130
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His) rs104894951 0.00126
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_016363.5(GP6):c.172C>T (p.Arg58Cys) rs199588110 0.00125
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00124
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_006715.4(MAN2C1):c.601-2A>G rs147928844 0.00120
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470 0.00113
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_002796.3(PSMB4):c.-9G>A rs200946642 0.00112
NM_016335.6(PRODH):c.1363G>T (p.Ala455Ser) rs1807467 0.00112
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904 0.00111
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_000140.5(FECH):c.801G>A (p.Met267Ile) rs118204037 0.00108
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168 0.00108
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422 0.00104
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150 0.00103
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029 0.00100
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00097
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln) rs121917702 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_018677.4(ACSS2):c.1487T>C (p.Val496Ala) rs59088485 0.00096
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter) rs138597671 0.00092
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) rs41303899 0.00092
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_139281.3(WDR36):c.1418G>A (p.Arg473Gln) rs116529882 0.00091
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_013391.3(DMGDH):c.972G>A (p.Trp324Ter) rs139044238 0.00088
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_016327.3(UPB1):c.358G>T (p.Ala120Ser) rs138872001 0.00084
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_032545.4(CFC1):c.522del (p.Ala175fs) rs746231039 0.00079
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu) rs137852660 0.00079
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn) rs138269726 0.00078
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) rs200098356 0.00078
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00077
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe) rs121912502 0.00076
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036 0.00076
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser) rs41291894 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614 0.00073
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000492.4(CFTR):c.1210-11_1210-10insG rs551227135 0.00072
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00071
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) rs145146218 0.00070
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350 0.00066
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter) rs77200626 0.00064
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350 0.00063
NM_032885.6(ATG4D):c.839A>G (p.Tyr280Cys) rs148969864 0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met) rs121912575 0.00061
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg) rs561633150 0.00061
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) rs138435128 0.00058
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_000055.2(BCHE):c.812C>T (p.Thr271Met) rs28933389 0.00057
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser) rs1800578 0.00057
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145 0.00057
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844 0.00057
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_018451.5(CPAP):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys) rs116938457 0.00053
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_000040.3(APOC3):c.55C>T (p.Arg19Ter) rs76353203 0.00050
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys) rs149039053 0.00049
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) rs528448732 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
NM_000085.5(CLCNKB):c.656-31del rs751608665 0.00046
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_001378609.3(OTOGL):c.6019+5G>A rs368712763 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_001379659.1(ZNF142):c.25C>T (p.Gln9Ter) rs200699349 0.00045
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter) rs146466242 0.00045
NM_173689.7(CRB2):c.3746G>A (p.Arg1249Gln) rs147412276 0.00045
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu) rs553950608 0.00044
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe) rs79668755 0.00044
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) rs372509310 0.00043
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
NM_004092.4(ECHS1):c.489G>A (p.Pro163=) rs140410716 0.00042
NM_014270.5(SLC7A9):c.-26G>T rs375495587 0.00042
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325 0.00042
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) rs541276426 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val) rs138594222 0.00040
NM_012073.5(CCT5):c.440A>G (p.His147Arg) rs118203986 0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser) rs546442503 0.00039
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp) rs121912553 0.00038
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074 0.00038
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter) rs201976061 0.00037
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter) rs1004428835 0.00037
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) rs144666367 0.00037
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) rs779248881 0.00037
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000505.4(F12):c.1681-1G>A rs199988476 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro) rs142447950 0.00035
NM_004551.3(NDUFS3):c.381+6T>C rs377579231 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001813.3(CENPE):c.4063A>G (p.Lys1355Glu) rs141488085 0.00034
NM_006364.4(SEC23A):c.2104A>G (p.Met702Val) rs138568622 0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=) rs150473213 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_139281.3(WDR36):c.896A>G (p.Asn299Ser) rs118204022 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_005689.4(ABCB6):c.376del (p.Val126fs) rs377591749 0.00033
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000518.5(HBB):c.-106G>C rs63750681 0.00032
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_001349884.2(DRAM2):c.737T>C (p.Leu246Pro) rs148031211 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter) rs200353633 0.00032
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_031955.6(SPATA16):c.848G>A (p.Arg283Gln) rs137853118 0.00032
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000055.4(BCHE):c.435_436insG (p.Phe146fs) rs774072493 0.00031
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_000587.4(C7):c.2350+2T>C rs201240159 0.00031
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly) rs142067039 0.00031
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00031
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu) rs201824781 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_014384.3(ACAD8):c.466G>T (p.Ala156Ser) rs201273972 0.00030
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp) rs145541911 0.00030
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) rs28989183 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter) rs376963628 0.00029
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile) rs150912414 0.00029
NM_207581.4(DUOXA2):c.205+2T>C rs201506037 0.00029
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582 0.00027
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207 0.00026
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_001369.3(DNAH5):c.2431+5G>A rs369244905 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_015047.3(EMC1):c.2712dup (p.His905fs) rs781137936 0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys) rs28931603 0.00025
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp) rs121918729 0.00025
NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala) rs141905538 0.00025
NM_001202.6(BMP4):c.676C>T (p.Arg226Trp) rs140590144 0.00025
NM_005448.2(BMP15):c.226C>T (p.Arg76Cys) rs104894766 0.00025
NM_014669.5(NUP93):c.2137-18G>A rs376379631 0.00025
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly) rs200635860 0.00025
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NR_023343.3(RNU4ATAC):n.8C>T rs370715569 0.00025
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221 0.00024
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs) rs538193392 0.00024
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
NM_014989.7(RIMS1):c.3430C>T (p.Arg1144Ter) rs202076893 0.00024
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) rs527421775 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys) rs137853095 0.00024
NM_144666.3(DNHD1):c.2683C>T (p.Gln895Ter) rs929548279 0.00024
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001199799.2(ILDR1):c.866T>G (p.Leu289Trp) rs141450561 0.00023
NM_001379286.1(ZNF423):c.2762C>T (p.Pro921Leu) rs200585917 0.00023
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_000187.4(HGD):c.8A>C (p.Glu3Ala) rs200412910 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055 0.00022
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_001370658.1(BTD):c.-148C>T rs774964227 0.00022
NM_005543.4(INSL3):c.305G>A (p.Arg102His) rs121912556 0.00022
NM_006567.5(FARS2):c.407C>A (p.Pro136His) rs199863563 0.00022
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) rs1306393544 0.00022
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) rs121917828 0.00022
NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His) rs150903058 0.00021
NM_000130.5(F5):c.1000A>G (p.Arg334Gly) rs118203905 0.00021
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_003085.5(SNCB):c.368C>A (p.Pro123His) rs104893937 0.00021
NM_004947.5(DOCK3):c.3887A>G (p.Lys1296Arg) rs201184598 0.00021
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) rs373076763 0.00021
NM_016180.5(SLC45A2):c.365A>G (p.Asn122Ser) rs145379710 0.00021
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly) rs145718830 0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_012144.4(DNAI1):c.180G>A (p.Ala60=) rs201120508 0.00020
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923 0.00020
NM_032977.4(CASP10):c.853C>T (p.Leu285Phe) rs17860403 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965 0.00019
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000443.4(ABCB4):c.2784-12T>C rs201498350 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001193313.2(SUGCT):c.301C>T (p.Arg101Ter) rs137852862 0.00019
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_001252024.2(TRPM1):c.281A>G (p.Tyr94Cys) rs200514769 0.00019
NM_001319074.4(RAX2):c.260G>A (p.Arg87Gln) rs121908280 0.00019
NM_001354768.3(NRL):c.654del (p.Cys219fs) rs761024023 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser) rs200708284 0.00019
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_006231.4(POLE):c.1A>C (p.Met1Leu) rs878854847 0.00019
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) rs774995635 0.00019
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys) rs200067423 0.00019
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) rs201393279 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) rs140159323 0.00019
NM_032119.4(ADGRV1):c.18782T>C (p.Leu6261Ser) rs557331348 0.00019
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403 0.00019
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_144585.4(SLC22A12):c.1400C>T (p.Thr467Met) rs200104135 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly) rs137973334 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro) rs946898300 0.00018
NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile) rs61759861 0.00018
NM_001202.6(BMP4):c.272C>G (p.Ser91Cys) rs121912767 0.00018
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser) rs121434391 0.00018
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_015512.5(DNAH1):c.6212T>G (p.Leu2071Arg) rs757396103 0.00018
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_001002294.3(FMO3):c.172G>A (p.Val58Ile) rs144935285 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro) rs191205969 0.00016
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu) rs373946181 0.00016
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488 0.00016
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) rs121913560 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_018161.5(NADSYN1):c.395G>T (p.Trp132Leu) rs189928649 0.00016
NM_020320.5(RARS2):c.472_474del (p.Lys158del) rs757743894 0.00016
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) rs138846118 0.00016
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys) rs755169246 0.00016
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu) rs560475969 0.00016
NM_201548.5(CERKL):c.1160-10T>G rs771126203 0.00016
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) rs138587317 0.00015
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_001458.5(FLNC):c.970-4A>G rs532143625 0.00015
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134 0.00014
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) rs2227885 0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000717.5(CA4):c.40C>T (p.Arg14Trp) rs104894559 0.00014
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter) rs142090504 0.00014
NM_001077415.3(CRELD1):c.575G>A (p.Cys192Tyr) rs201866563 0.00014
NM_001080442.3(SLC38A8):c.388+5G>A rs760391436 0.00014
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr) rs138001307 0.00014
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614 0.00014
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) rs201221237 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) rs397515426 0.00014
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937 0.00014
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753 0.00014
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn) rs550136320 0.00014
NM_007031.2(HSF2BP):c.500C>T (p.Ser167Leu) rs200655253 0.00014
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr) rs199761611 0.00014
NM_152683.4(PRIMPOL):c.265T>G (p.Tyr89Asp) rs200857997 0.00014
NM_173483.4(CYP4F22):c.667C>T (p.Gln223Ter) rs199892192 0.00014
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_001083116.3(PRF1):c.695G>A (p.Arg232His) rs747380397 0.00013
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) rs183589498 0.00013
NM_001195305.3(BBIP1):c.38-6T>C rs541703290 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015 0.00013
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys) rs534438354 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_016327.3(UPB1):c.209G>C (p.Arg70Pro) rs121908066 0.00013
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu) rs199730889 0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_020774.4(MIB1):c.2827G>T (p.Val943Phe) rs200035428 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro) rs376103979 0.00013
NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn) rs121908135 0.00013
NR_023343.3(RNU4ATAC):n.37G>A rs756026847 0.00013
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000618.5(IGF1):c.*265T>A rs771502062 0.00012
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_002381.5(MATN3):c.209G>A (p.Arg70His) rs104893640 0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys) rs121908487 0.00012
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871 0.00012
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_019844.4(SLCO1B3):c.971-2A>G rs140033394 0.00012
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg) rs748770309 0.00012
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu) rs121918404 0.00012
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn) rs769114543 0.00012
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter) rs201663789 0.00012
NM_145046.5(CALR3):c.564del (p.Gln189fs) rs747656642 0.00012
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000187.4(HGD):c.752G>A (p.Gly251Asp) rs781011621 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000527.5(LDLR):c.643C>T (p.Arg215Cys) rs764042910 0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086 0.00011
NM_001177316.2(SLC34A3):c.232G>A (p.Gly78Arg) rs756241784 0.00011
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_001622.4(AHSG):c.4A>T (p.Lys2Ter) rs370627604 0.00011
NM_001739.2(CA5A):c.555G>A (p.Lys185=) rs147623570 0.00011
NM_002335.4(LRP5):c.3245A>G (p.Tyr1082Cys) rs113804402 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_004933.3(CDH15):c.274C>T (p.Arg92Trp) rs121434540 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_006929.5(SKIC2):c.1120C>T (p.Arg374Ter) rs200818962 0.00011
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu) rs139497891 0.00011
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln) rs200792883 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter) rs146148316 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_020549.5(CHAT):c.406G>A (p.Val136Met) rs201479289 0.00011
NM_025103.4(IFT74):c.1024C>T (p.Gln342Ter) rs377639405 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738 0.00010
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00010
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850 0.00010
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_001061.7(TBXAS1):c.856C>T (p.Arg286Ter) rs766799764 0.00010
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu) rs375761361 0.00010
NM_001127178.3(PIGG):c.2005C>T (p.Arg669Cys) rs372392424 0.00010
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_001353108.3(CEP63):c.990del (p.Asp330fs) rs774485513 0.00010
NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter) rs62637037 0.00010
NM_002016.2(FLG):c.10285G>T (p.Glu3429Ter) rs764182496 0.00010
NM_002016.2(FLG):c.3059C>G (p.Ser1020Ter) rs200360684 0.00010
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys) rs111033564 0.00010
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) rs149096315 0.00010
NM_004493.3(HSD17B10):c.347G>A (p.Arg116Gln) rs782357172 0.00010
NM_004994.3(MMP9):c.2T>A (p.Met1Lys) rs121434556 0.00010
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp) rs151325121 0.00010
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser) rs149992595 0.00010
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln) rs781994662 0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met) rs138722406 0.00010
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_000017.4(ACADS):c.989G>A (p.Arg330His) rs199633532 0.00009
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000249.4(MLH1):c.-42C>T rs41285097 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000350.3(ABCA4):c.2431C>T (p.Arg811Cys) rs758777521 0.00009
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001385.3(DPYS):c.352C>T (p.Arg118Ter) rs546700169 0.00009
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_003597.5(KLF11):c.1039G>T (p.Ala347Ser) rs121912645 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val) rs201068049 0.00009
NM_004211.5(SLC6A5):c.1274C>T (p.Thr425Met) rs121908498 0.00009
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_004771.4(MMP20):c.103A>C (p.Arg35=) rs61751462 0.00009
NM_005026.5(PIK3CD):c.2530A>T (p.Met844Leu) rs200369205 0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_005430.4(WNT1):c.506G>A (p.Gly169Asp) rs371672410 0.00009
NM_005560.6(LAMA5):c.3728C>T (p.Pro1243Leu) rs756101090 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg) rs142046798 0.00009
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824 0.00009
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys) rs140540222 0.00009
NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr) rs139008774 0.00009
NM_013291.3(CPSF1):c.2823_2824del (p.Val943fs) rs782640869 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042 0.00009
NM_020297.4(ABCC9):c.1320+1G>A rs139620148 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter) rs752473648 0.00009
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro) rs372174278 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448 0.00009
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr) rs80356462 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198576.4(AGRN):c.1343G>A (p.Arg448Gln) rs772102866 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690 0.00009
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000380.4(XPA):c.731A>G (p.His244Arg) rs144725456 0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NM_001001548.3(CD36):c.1202_1205del (p.Val401fs) rs769354931 0.00008
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251 0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_001206744.2(TPO):c.1472G>A (p.Arg491His) rs201165648 0.00008
NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys) rs534089911 0.00008
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln) rs368488511 0.00008
NM_003041.4(SLC5A2):c.500del (p.Gln167fs) rs267607067 0.00008
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) rs369091875 0.00008
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) rs28936704 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_005198.5(CHKB):c.581G>A (p.Arg194Gln) rs139818555 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_006017.3(PROM1):c.1276dup (p.Thr426fs) rs747800874 0.00008
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) rs761622978 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_019616.4(F7):c.781C>T (p.Arg261Trp) rs779589651 0.00008
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter) rs761299690 0.00008
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_144773.4(PROKR2):c.743G>A (p.Arg248Gln) rs376142095 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738 0.00007
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030 0.00007
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000478.6(ALPL):c.575T>C (p.Met192Thr) rs765011829 0.00007
NM_000479.5(AMH):c.905G>A (p.Arg302Gln) rs536688211 0.00007
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_001002294.3(FMO3):c.1302G>A (p.Met434Ile) rs72549332 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001034116.2(EIF2B4):c.1120C>T (p.Arg374Cys) rs113994035 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001145026.2(PTPRQ):c.6556C>T (p.Arg2186Ter) rs933245871 0.00007
NM_001353108.3(CEP63):c.31C>T (p.Arg11Ter) rs763001827 0.00007
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp) rs373062274 0.00007
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) rs757369063 0.00007
NM_002234.4(KCNA5):c.913G>A (p.Ala305Thr) rs199794307 0.00007
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg) rs368587966 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003356.4(UCP3):c.208C>T (p.Arg70Trp) rs17848368 0.00007
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558 0.00007
NM_004588.5(SCN2B):c.82C>T (p.Arg28Trp) rs17121819 0.00007
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) rs200737038 0.00007
NM_005472.5(KCNE3):c.296G>A (p.Arg99His) rs121908441 0.00007
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442 0.00007
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410 0.00007
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890 0.00007
NM_014384.3(ACAD8):c.455T>C (p.Met152Thr) rs121908418 0.00007
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs) rs772578397 0.00007
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) rs397517333 0.00007
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_032409.3(PINK1):c.836G>A (p.Arg279His) rs74315358 0.00007
NM_032634.4(PIGO):c.364C>T (p.Arg122Ter) rs375682284 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_144988.4(ALG14):c.136+1G>C rs150550220 0.00007
NM_145059.3(FCSK):c.667T>C (p.Ser223Pro) rs769009456 0.00007
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) rs151057466 0.00007
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr) rs760892123 0.00006
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00006
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737 0.00006
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920 0.00006
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr) rs368500877 0.00006
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro) rs121434326 0.00006
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter) rs189768576 0.00006
NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln) rs727502811 0.00006
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg) rs193922233 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000163.5(GHR):c.726G>C (p.Glu242Asp) rs45588036 0.00006
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) rs190612616 0.00006
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys) rs374156343 0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys) rs375399468 0.00006
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile) rs193922795 0.00006
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000631.5(NCF4):c.759-1G>C rs200347935 0.00006
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619 0.00006
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) rs397514725 0.00006
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter) rs141472681 0.00006
NM_001036.6(RYR3):c.8939G>T (p.Arg2980Leu) rs200346049 0.00006
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp) rs768950391 0.00006
NM_001099287.2(NIPAL4):c.277+5G>A rs376074083 0.00006
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp) rs559626481 0.00006
NM_001142800.2(EYS):c.35T>C (p.Met12Thr) rs755947942 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_001145715.3(KPNA7):c.106C>T (p.Arg36Ter) rs760378316 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001256545.2(MEGF10):c.2857-2A>G rs199750143 0.00006
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) rs117830543 0.00006
NM_001298.3(CNGA3):c.1982G>A (p.Arg661His) rs144715956 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg) rs267606766 0.00006
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730 0.00006
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) rs763915229 0.00006
NM_001414.4(EIF2B1):c.252+1G>A rs113994006 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_002133.3(HMOX1):c.287G>A (p.Trp96Ter) rs137932222 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397 0.00006
NM_003052.5(SLC34A1):c.464T>C (p.Leu155Pro) rs369770760 0.00006
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00006
NM_003824.4(FADD):c.313T>C (p.Cys105Arg) rs369869993 0.00006
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer) rs772570880 0.00006
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln) rs138085358 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_006005.3(WFS1):c.1836G>A (p.Trp612Ter) rs775158434 0.00006
NM_006005.3(WFS1):c.977C>T (p.Ala326Val) rs369795224 0.00006
NM_006059.4(LAMC3):c.3871C>T (p.Arg1291Ter) rs201793200 0.00006
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302 0.00006
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala) rs199562456 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_006918.5(SC5D):c.442A>G (p.Lys148Glu) rs775350797 0.00006
NM_007059.4(KPTN):c.394+1G>A rs373139784 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) rs200151282 0.00006
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_014989.7(RIMS1):c.2459G>A (p.Arg820His) rs121918302 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619 0.00006
NM_017837.4(PIGV):c.439C>T (p.Gln147Ter) rs185641230 0.00006
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg) rs564625875 0.00006
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser) rs387907308 0.00006
NM_021100.5(NFS1):c.215G>A (p.Arg72Gln) rs200592030 0.00006
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly) rs200078740 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 0.00006
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951 0.00006
NM_030773.4(TUBB1):c.35del (p.Cys12fs) rs773248042 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_052872.4(IL17F):c.284C>T (p.Ser95Leu) rs748486078 0.00006
NM_133459.4(CCBE1):c.310G>A (p.Asp104Asn) rs139165727 0.00006
NM_139284.3(LGI4):c.61A>T (p.Arg21Ter) rs140614229 0.00006
NM_144988.4(ALG14):c.422T>G (p.Val141Gly) rs139005007 0.00006
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile) rs782716325 0.00006
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) rs367579275 0.00006
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) rs766132697 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys) rs74315449 0.00006
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_198407.2(GHSR):c.709A>T (p.Arg237Trp) rs199588904 0.00006
NM_198576.4(AGRN):c.4735G>A (p.Gly1579Ser) rs556296275 0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_206965.2(FTCD):c.403C>T (p.Arg135Cys) rs28941768 0.00006
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285 0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253 0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791 0.00005
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg) rs568792949 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000485.3(APRT):c.400+2dup rs745594160 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000550.3(TYRP1):c.1226C>T (p.Ala409Val) rs148248971 0.00005
NM_000925.4(PDHB):c.426A>G (p.Ile142Met) rs151247980 0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 0.00005
NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys) rs606231453 0.00005
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
NM_001142800.2(EYS):c.6571+5G>A rs991580368 0.00005
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile) rs201992075 0.00005
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His) rs141638421 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly) rs562740927 0.00005
NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter) rs367576664 0.00005
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864 0.00005
NM_001698.3(AUH):c.991A>T (p.Lys331Ter) rs387906757 0.00005
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 0.00005
NM_002234.4(KCNA5):c.1580C>T (p.Thr527Met) rs121908591 0.00005
NM_003052.5(SLC34A1):c.244G>T (p.Glu82Ter) rs377186926 0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 0.00005
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) rs1051249273 0.00005
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys) rs121909066 0.00005
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) rs137852765 0.00005
NM_003805.5(CRADD):c.382G>C (p.Gly128Arg) rs387906861 0.00005
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) rs201378067 0.00005
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_004092.4(ECHS1):c.389T>A (p.Val130Asp) rs753793522 0.00005
NM_004320.6(ATP2A1):c.428G>A (p.Arg143Gln) rs750195772 0.00005
NM_004827.3(ABCG2):c.791_792del (p.Leu264fs) rs387906870 0.00005
NM_004994.3(MMP9):c.1764G>A (p.Trp588Ter) rs200746714 0.00005
NM_005005.3(NDUFB9):c.1A>G (p.Met1Val) rs369824948 0.00005
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro) rs369238198 0.00005
NM_005619.5(RTN2):c.939del (p.Thr314fs) rs768449676 0.00005
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu) rs755177846 0.00005
NM_006567.5(FARS2):c.989G>A (p.Arg330His) rs863223957 0.00005
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340 0.00005
NM_012208.4(HARS2):c.125T>G (p.Leu42Ter) rs146046742 0.00005
NM_013444.4(UBQLN2):c.1525C>T (p.Pro509Ser) rs387906712 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_014270.5(SLC7A9):c.604+2T>C rs763110287 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro) rs566435653 0.00005
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg) rs201751992 0.00005
NM_025103.4(IFT74):c.1685-1G>T rs200699377 0.00005
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg) rs567130416 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys) rs367741588 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_145290.4(ADGRA3):c.2504C>G (p.Ser835Cys) rs562486549 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu) rs747965749 0.00005
NM_198994.3(TGM6):c.1528G>C (p.Asp510His) rs201964784 0.00005
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser) rs200117742 0.00004
NM_000031.6(ALAD):c.36C>G (p.Phe12Leu) rs121912984 0.00004
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg) rs118204430 0.00004
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126 0.00004
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser) rs122460151 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000055.4(BCHE):c.1574A>T (p.Glu525Val) rs121918556 0.00004
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys) rs779942952 0.00004
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) rs72549304 0.00004
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576 0.00004
NM_000144.5(FXN):c.389G>T (p.Gly130Val) rs104894107 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000159.4(GCDH):c.428T>C (p.Val143Ala) rs141456457 0.00004
NM_000161.3(GCH1):c.586G>T (p.Ala196Ser) rs104894436 0.00004
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00004
NM_000204.5(CFI):c.1015C>T (p.Arg339Ter) rs762761680 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000273.3(GPR143):c.455+3A>G rs776232889 0.00004
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp) rs774268095 0.00004
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys) rs138871700 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608 0.00004
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_000350.3(ABCA4):c.1208A>T (p.Asp403Val) rs913030626 0.00004
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro) rs61752430 0.00004
NM_000350.3(ABCA4):c.4773+3A>G rs759672616 0.00004
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln) rs61753021 0.00004
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter) rs730881068 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000392.5(ABCC2):c.1586G>A (p.Arg529Gln) rs781337846 0.00004
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp) rs753641926 0.00004
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110 0.00004
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_000481.4(AMT):c.-55C>T rs386833677 0.00004
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391 0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) rs397508818 0.00004
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His) rs1351045983 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter) rs367797185 0.00004
NM_001002294.3(FMO3):c.613C>T (p.Arg205Cys) rs28363549 0.00004
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe) rs201634470 0.00004
NM_001032386.2(SUOX):c.1084G>A (p.Gly362Ser) rs757559168 0.00004
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys) rs746164064 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001080413.3(NOBOX):c.1064G>A (p.Arg355His) rs201947677 0.00004
NM_001082971.2(DDC):c.272C>T (p.Ala91Val) rs137853211 0.00004
NM_001098816.3(TENM4):c.3412G>A (p.Val1138Met) rs538881762 0.00004
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) rs374324018 0.00004
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100 0.00004
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro) rs1311193836 0.00004
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) rs1161453292 0.00004
NM_001145860.2(POP1):c.163C>T (p.Arg55Ter) rs370453487 0.00004
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001197104.2(KMT2A):c.10835+1G>C rs141515578 0.00004
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001204.7(BMPR2):c.908G>A (p.Arg303His) rs200948870 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001252024.2(TRPM1):c.2848C>T (p.Arg950Trp) rs727504182 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met) rs772040483 0.00004
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys) rs150153987 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_001312673.2(PCYT1A):c.968dup (p.Ser323fs) rs587777196 0.00004
NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His) rs398124543 0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_001366110.1(PAX4):c.514C>T (p.Arg172Trp) rs121917718 0.00004
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs) rs756543273 0.00004
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) rs149808404 0.00004
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) rs781326398 0.00004
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781 0.00004
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058 0.00004
NM_001385.3(DPYS):c.350G>A (p.Trp117Ter) rs371567511 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) rs121913040 0.00004
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124 0.00004
NM_002187.3(IL12B):c.660T>A (p.Tyr220Ter) rs748215576 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002471.4(MYH6):c.2384G>A (p.Arg795Gln) rs267606907 0.00004
NM_002591.4(PCK1):c.134T>C (p.Ile45Thr) rs202197769 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp) rs386134203 0.00004
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698 0.00004
NM_003480.4(MFAP5):c.472C>T (p.Arg158Ter) rs727502791 0.00004
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys) rs200581623 0.00004
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644 0.00004
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys) rs121908494 0.00004
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter) rs752341132 0.00004
NM_004273.5(CHST3):c.475T>A (p.Phe159Ile) rs145538723 0.00004
NM_004444.5(EPHB4):c.1054C>T (p.Arg352Ter) rs898898802 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) rs780085174 0.00004
NM_004937.3(CTNS):c.635C>T (p.Ala212Val) rs776658046 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) rs200197424 0.00004
NM_005276.4(GPD1):c.805C>T (p.Arg269Trp) rs761342764 0.00004
NM_005327.7(HADH):c.908G>T (p.Gly303Val) rs575378007 0.00004
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter) rs137852637 0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) rs543016186 0.00004
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296 0.00004
NM_006214.4(PHYH):c.530A>G (p.Asp177Gly) rs770262329 0.00004
NM_006576.4(AVIL):c.1964dup (p.Phe656fs) rs753128516 0.00004
NM_006767.4(LZTR1):c.1394C>T (p.Ala465Val) rs753757778 0.00004
NM_014049.5(ACAD9):c.868G>A (p.Gly290Arg) rs1018093316 0.00004
NM_014270.5(SLC7A9):c.511C>T (p.Arg171Trp) rs758242098 0.00004
NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg) rs371449613 0.00004
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys) rs72552294 0.00004
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197 0.00004
NM_015338.6(ASXL1):c.1249C>T (p.Arg417Ter) rs375215583 0.00004
NM_015426.5(POC1A):c.649C>T (p.Arg217Trp) rs372247136 0.00004
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp) rs769570290 0.00004
NM_016180.5(SLC45A2):c.1454T>C (p.Leu485Pro) rs749544685 0.00004
NM_016327.3(UPB1):c.899C>T (p.Ser300Leu) rs762081192 0.00004
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) rs146539065 0.00004
NM_017547.4(FOXRED1):c.1261G>A (p.Val421Met) rs199542988 0.00004
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser) rs199622789 0.00004
NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg) rs753347128 0.00004
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194 0.00004
NM_017951.5(SMPD4):c.1220C>T (p.Pro407Leu) rs747433356 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs) rs587783393 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715 0.00004
NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter) rs753254213 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701 0.00004
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter) rs199896820 0.00004
NM_021930.6(RINT1):c.1555C>T (p.Arg519Ter) rs759853907 0.00004
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792 0.00004
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met) rs201994921 0.00004
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522 0.00004
NM_024596.5(MCPH1):c.322-1G>C rs201721894 0.00004
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) rs200841458 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_032634.3(PIGO):c.3069+5G>A rs368953604 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp) rs281875208 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) rs750076188 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_144672.4(OTOA):c.1807G>T (p.Val603Phe) rs775686301 0.00004
NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser) rs587777133 0.00004
NM_144988.4(ALG14):c.310C>T (p.Arg104Ter) rs367570129 0.00004
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln) rs199689080 0.00004
NM_145691.4(ATPAF2):c.133+1G>T rs147941728 0.00004
NM_145698.5(ACBD5):c.88C>T (p.Gln30Ter) rs201279624 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_152416.4(NDUFAF6):c.298-768T>C rs575462405 0.00004
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) rs201088736 0.00004
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563 0.00004
NM_153460.4(IL17RC):c.913C>T (p.Arg305Ter) rs773852926 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys) rs185392267 0.00004
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn) rs200455852 0.00004
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) rs398124579 0.00004
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp) rs368155547 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu) rs121917883 0.00004
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) rs387906989 0.00004
NM_201548.5(CERKL):c.950G>A (p.Arg317His) rs150587104 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr) rs758614136 0.00004
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) rs199476185 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NR_003051.4(RMRP):n.196dup rs796065036 0.00004
NC_000011.10:g.5227172G>A rs63751208 0.00003
NM_000016.6(ACADM):c.407C>T (p.Ala136Val) rs750792245 0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 0.00003
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg) rs398123085 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044 0.00003
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718 0.00003
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000039.3(APOA1):c.83C>G (p.Pro28Arg) rs121912721 0.00003
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro) rs397514441 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His) rs150244667 0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) rs1428029508 0.00003
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) rs115129687 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.663T>G (p.Phe221Leu) rs80358891 0.00003
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys) rs1287586310 0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000071.3(CBS):c.415G>A (p.Gly139Arg) rs121964965 0.00003
NM_000079.4(CHRNA1):c.235-323G>A rs750955953 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln) rs764849762 0.00003
NM_000110.4(DPYD):c.2657G>A (p.Arg886His) rs1801267 0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) rs386833497 0.00003
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val) rs121434571 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser) rs752735168 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His) rs764608975 0.00003
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000187.4(HGD):c.709C>T (p.Arg237Cys) rs1171237852 0.00003
NM_000187.4(HGD):c.990G>T (p.Arg330Ser) rs120074171 0.00003
NM_000215.4(JAK3):c.2680+3G>C rs749481781 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000277.3(PAH):c.1066T>C (p.Tyr356His) rs62507320 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000317.3(PTS):c.84-291A>G rs1480995114 0.00003
NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys) rs775252439 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939 0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521 0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000404.4(GLB1):c.335A>C (p.His112Pro) rs753965226 0.00003
NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp) rs376757912 0.00003
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys) rs60373464 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_000485.3(APRT):c.250G>A (p.Val84Met) rs200392753 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn) rs556880586 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln) rs121909044 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000492.4(CFTR):c.2813T>G (p.Val938Gly) rs193922511 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.3458T>A (p.Val1153Glu) rs397508567 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys) rs886039377 0.00003
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000527.5(LDLR):c.1835C>T (p.Ala612Val) rs377449975 0.00003
NM_000527.5(LDLR):c.1954A>G (p.Met652Val) rs730882111 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His) rs371566475 0.00003
NM_000540.3(RYR1):c.7210G>A (p.Glu2404Lys) rs111364296 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_000550.3(TYRP1):c.140_141del (p.Pro47fs) rs757376458 0.00003
NM_000687.4(AHCY):c.257A>G (p.Asp86Gly) rs773162208 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_001005373.4(LRSAM1):c.1913-1G>A rs756880678 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg) rs753558336 0.00003
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr) rs137853212 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) rs146158333 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001145165.2(DOHH):c.668C>T (p.Pro223Leu) rs1031622115 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 0.00003
NM_001211.6(BUB1B):c.2386-11A>G rs751421137 0.00003
NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn) rs199566950 0.00003
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile) rs397516686 0.00003
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter) rs772230378 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg) rs121909098 0.00003
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg) rs755505546 0.00003
NM_001379659.1(ZNF142):c.5098C>T (p.Arg1700Trp) rs367658234 0.00003
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met) rs373704405 0.00003
NM_001387263.1(PATL2):c.839G>A (p.Arg280Gln) rs569729547 0.00003
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter) rs782336856 0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) rs879255639 0.00003
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser) rs758509148 0.00003
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381 0.00003
NM_002857.4(PEX19):c.763dup (p.Met255fs) rs267608186 0.00003
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter) rs74315370 0.00003
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr) rs777578399 0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194 0.00003
NM_003104.6(SORD):c.328C>T (p.Arg110Ter) rs745509632 0.00003
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648 0.00003
NM_003119.4(SPG7):c.878C>T (p.Ala293Val) rs201723702 0.00003
NM_003560.4(PLA2G6):c.1187-1G>A rs1477656610 0.00003
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys) rs370691849 0.00003
NM_003773.5(HYAL2):c.829C>T (p.Arg277Cys) rs142405670 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004082.5(DCTN1):c.414+1G>A rs576198476 0.00003
NM_004183.4(BEST1):c.418C>G (p.Leu140Val) rs267606678 0.00003
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter) rs202057289 0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs) rs775652214 0.00003
NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln) rs74526704 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005787.6(ALG3):c.349C>T (p.Arg117Ter) rs753238253 0.00003
NM_005957.5(MTHFR):c.1743G>A (p.Met581Ile) rs45590836 0.00003
NM_006059.4(LAMC3):c.1048G>A (p.Gly350Arg) rs571785750 0.00003
NM_006059.4(LAMC3):c.976+1G>C rs201519274 0.00003
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424 0.00003
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_006790.3(MYOT):c.17G>A (p.Arg6His) rs387906882 0.00003
NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys) rs374155761 0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln) rs781156571 0.00003
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter) rs538343832 0.00003
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser) rs199894905 0.00003
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs) rs724159996 0.00003
NM_014270.5(SLC7A9):c.1060G>A (p.Ala354Thr) rs939028046 0.00003
NM_014384.3(ACAD8):c.730C>T (p.Arg244Ter) rs746960051 0.00003
NM_014467.3(SRPX2):c.215A>C (p.Tyr72Ser) rs121918364 0.00003
NM_014832.5(TBC1D4):c.3122G>A (p.Arg1041His) rs199560195 0.00003
NM_014845.6(FIG4):c.2459+1G>A rs747768373 0.00003
NM_015047.3(EMC1):c.430G>A (p.Ala144Thr) rs869320623 0.00003
NM_015166.4(MLC1):c.449_455del (p.Leu150fs) rs1057517090 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_015713.5(RRM2B):c.329G>A (p.Arg110His) rs267607025 0.00003
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln) rs370455806 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter) rs773969315 0.00003
NM_017433.5(MYO3A):c.4505T>G (p.Leu1502Ter) rs754217606 0.00003
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter) rs750232956 0.00003
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser) rs1028163227 0.00003
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter) rs572380130 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter) rs772719574 0.00003
NM_017837.4(PIGV):c.146C>A (p.Ser49Ter) rs145160045 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_018451.5(CENPJ):c.2704C>T (p.Arg902Ter) rs374057641 0.00003
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) rs863225201 0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321 0.00003
NM_020247.5(COQ8A):c.812G>A (p.Arg271His) rs765859566 0.00003
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) rs147914967 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro) rs137853116 0.00003
NM_021930.6(RINT1):c.1603C>T (p.Arg535Ter) rs764298491 0.00003
NM_022041.4(GAN):c.805C>T (p.Arg269Trp) rs776397915 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_022552.5(DNMT3A):c.2207G>A (p.Arg736His) rs139293773 0.00003
NM_024120.5(NDUFAF5):c.775C>T (p.Gln259Ter) rs755097467 0.00003
NM_024306.5(FA2H):c.968C>T (p.Pro323Leu) rs774131656 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His) rs201073459 0.00003
NM_032357.4(CCDC115):c.1A>G (p.Met1Val) rs752919660 0.00003
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln) rs761283105 0.00003
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp) rs200725073 0.00003
NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter) rs778497200 0.00003
NM_152305.3(POGLUT1):c.814C>T (p.Arg272Ter) rs747897279 0.00003
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) rs201732170 0.00003
NM_152564.5(VPS13B):c.11044+5C>T rs764708878 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771 0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572 0.00003
NM_198576.4(AGRN):c.4999G>A (p.Val1667Met) rs770750909 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034 0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) rs781668118 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) rs114837786 0.00003
NM_213599.3(ANO5):c.2176dup (p.Ser726fs) rs797044667 0.00003
NM_213653.4(HJV):c.665T>A (p.Ile222Asn) rs74315325 0.00003
NR_001566.3(TERC):n.37A>G rs199422261 0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly) rs758476299 0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr) rs758111285 0.00002
NM_000016.6(ACADM):c.709-13A>G rs746483754 0.00002
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu) rs1356652354 0.00002
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys) rs794727111 0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943 0.00002
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792 0.00002
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696 0.00002
NM_000035.4(ALDOB):c.910C>T (p.Arg304Trp) rs555935217 0.00002
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) rs377280518 0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000048.4(ASL):c.62T>C (p.Met21Thr) rs774392615 0.00002
NM_000048.4(ASL):c.638G>A (p.Arg213Gln) rs1449589636 0.00002
NM_000048.4(ASL):c.918+5G>A rs781331391 0.00002
NM_000051.4(ATM):c.7739G>A (p.Arg2580Lys) rs761790685 0.00002
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 0.00002
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp) rs749626601 0.00002
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) rs760485585 0.00002
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888 0.00002
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser) rs373400041 0.00002
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.8331+3A>C rs876659382 0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000094.4(COL7A1):c.7068+5G>A rs779875751 0.00002
NM_000094.4(COL7A1):c.7882C>T (p.Arg2628Trp) rs376588113 0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000098.3(CPT2):c.1460A>C (p.Glu487Ala) rs368132822 0.00002
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477 0.00002
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_000128.4(F11):c.1853T>G (p.Ile618Ser) rs281875276 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000137.4(FAH):c.398A>T (p.His133Leu) rs775152764 0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=) rs533540262 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000143.4(FH):c.65T>G (p.Leu22Ter) rs1031919395 0.00002
NM_000145.4(FSHR):c.479T>C (p.Ile160Thr) rs121909659 0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702 0.00002
NM_000153.4(GALC):c.674C>A (p.Ala225Glu) rs373077659 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val) rs933624223 0.00002
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg) rs774526353 0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
NM_000159.4(GCDH):c.658G>A (p.Asp220Asn) rs375357230 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000179.3(MSH6):c.4028C>G (p.Ser1343Ter) rs863225420 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877 0.00002
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996 0.00002
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925 0.00002
NM_000207.3(INS):c.266G>A (p.Arg89His) rs28933985 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys) rs1365923535 0.00002
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_000258.3(MYL3):c.461G>A (p.Arg154His) rs104893749 0.00002
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292 0.00002
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) rs781989117 0.00002
NM_000260.4(MYO7A):c.254T>C (p.Leu85Pro) rs1325184426 0.00002
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474 0.00002
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) rs774333145 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys) rs779086242 0.00002
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194 0.00002
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395 0.00002
NM_000335.5(SCN5A):c.4015G>A (p.Val1339Ile) rs199473605 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000342.3(SLC4A1):c.-62G>A rs387906565 0.00002
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466 0.00002
NM_000350.3(ABCA4):c.6109G>A (p.Ala2037Thr) rs756555985 0.00002
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255 0.00002
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys) rs62645942 0.00002
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg) rs764349043 0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315 0.00002
NM_000365.6(TPI1):c.367G>A (p.Gly123Arg) rs121964846 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000400.4(ERCC2):c.1479+2dup rs776705174 0.00002
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881 0.00002
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881 0.00002
NM_000434.4(NEU1):c.1034C>T (p.Thr345Ile) rs750975716 0.00002
NM_000436.4(OXCT1):c.661G>A (p.Val221Met) rs121909303 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn) rs994170964 0.00002
NM_000447.3(PSEN2):c.1289C>T (p.Thr430Met) rs63750666 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000454.5(SOD1):c.289G>A (p.Asp97Asn) rs121912459 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000478.6(ALPL):c.657G>T (p.Met219Ile) rs776117933 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys) rs398123419 0.00002
NM_000492.4(CFTR):c.1405A>G (p.Met469Val) rs397508203 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly) rs397508270 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000512.5(GALNS):c.1157G>A (p.Arg386His) rs1221167717 0.00002
NM_000512.5(GALNS):c.917T>G (p.Phe306Cys) rs759590432 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000521.4(HEXB):c.1614-16_1615dup rs1554037309 0.00002
NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln) rs875989914 0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg) rs746982741 0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val) rs875989924 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.1733T>C (p.Val578Ala) rs72658864 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452 0.00002
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) rs879255203 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser) rs766407858 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val) rs193922791 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr) rs137853246 0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) rs145901144 0.00002
NM_000747.3(CHRNB1):c.248G>A (p.Trp83Ter) rs766823872 0.00002
NM_000925.4(PDHB):c.106C>T (p.Arg36Cys) rs763842440 0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val) rs199983136 0.00002
NM_001003722.2(GLE1):c.397C>T (p.Arg133Ter) rs374673335 0.00002
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187 0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln) rs113994028 0.00002
NM_001035.3(RYR2):c.6800G>A (p.Arg2267His) rs759012078 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177 0.00002
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001082971.2(DDC):c.206C>T (p.Thr69Met) rs777956037 0.00002
NM_001082971.2(DDC):c.446G>C (p.Ser149Thr) rs971183744 0.00002
NM_001083961.2(WDR62):c.1521G>A (p.Leu507=) rs778207666 0.00002
NM_001085411.3(NADK2):c.1A>G (p.Met1Val) rs1277388010 0.00002
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) rs372615994 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His) rs574359460 0.00002
NM_001127178.3(PIGG):c.2041C>T (p.Arg681Trp) rs899791968 0.00002
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter) rs794729150 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile) rs121918805 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe) rs28989181 0.00002
NM_001232.4(CASQ2):c.234+2T>C rs757789935 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu) rs745636376 0.00002
NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs) rs752788954 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001363118.2(SLC52A2):c.297G>C (p.Trp99Cys) rs782591841 0.00002
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro) rs748763552 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001374353.1(GLI2):c.1834G>A (p.Glu612Lys) rs387907277 0.00002
NM_001377265.1(MAPT):c.14G>A (p.Arg5His) rs63750959 0.00002
NM_001378030.1(CCDC78):c.61-1G>A rs1006891646 0.00002
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340 0.00002
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430 0.00002
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829 0.00002
NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter) rs750954043 0.00002
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter) rs147416429 0.00002
NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu) rs104894654 0.00002
NM_001388308.1(KIF12):c.1070G>A (p.Arg357Gln) rs746948055 0.00002
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp) rs1065764 0.00002
NM_001673.5(ASNS):c.1019G>A (p.Arg340His) rs1360484422 0.00002
NM_001918.5(DBT):c.401C>T (p.Pro134Leu) rs1131691488 0.00002
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002225.5(IVD):c.865G>A (p.Gly289Arg) rs568885234 0.00002
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451 0.00002
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln) rs754049402 0.00002
NM_002354.3(EPCAM):c.426-1G>A rs373597944 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_002496.4(NDUFS8):c.229C>T (p.Arg77Trp) rs146766138 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_003235.5(TG):c.2359C>T (p.Arg787Ter) rs752966476 0.00002
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr) rs139093920 0.00002
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406 0.00002
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879 0.00002
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu) rs777354267 0.00002
NM_004086.3(COCH):c.271C>T (p.Arg91Ter) rs540895576 0.00002
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr) rs770931871 0.00002
NM_004187.5(KDM5C):c.3068A>G (p.Lys1023Arg) rs782367133 0.00002
NM_004284.6(CHD1L):c.1929del (p.Arg643fs) rs782144677 0.00002
NM_004371.4(COPA):c.3172C>T (p.Arg1058Cys) rs772182530 0.00002
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter) rs767249944 0.00002
NM_004577.4(PSPH):c.94G>A (p.Asp32Asn) rs104894035 0.00002
NM_004588.5(SCN2B):c.83G>A (p.Arg28Gln) rs72544145 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter) rs760574657 0.00002
NM_005548.3(KARS1):c.1676C>T (p.Thr559Met) rs774447299 0.00002
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00002
NM_005861.4(STUB1):c.146A>G (p.Tyr49Cys) rs757849639 0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006329.4(FBLN5):c.212G>A (p.Arg71Gln) rs121434300 0.00002
NM_006618.5(KDM5B):c.1834C>T (p.Arg612Ter) rs777362026 0.00002
NM_006659.4(TUBGCP2):c.1101_1102del (p.Asp369fs) rs748286228 0.00002
NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter) rs267606710 0.00002
NM_012200.4(B3GAT3):c.2T>C (p.Met1Thr) rs772496010 0.00002
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) rs745656120 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys) rs1380005347 0.00002
NM_015214.3(DDHD2):c.725G>A (p.Arg242His) rs767497993 0.00002
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter) rs1057518717 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val) rs121918311 0.00002
NM_015915.5(ATL1):c.622C>T (p.Pro208Ser) rs147839037 0.00002
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys) rs778531326 0.00002
NM_016097.5(IER3IP1):c.62T>G (p.Val21Gly) rs387907011 0.00002
NM_016123.4(IRAK4):c.831+5G>T rs758539498 0.00002
NM_016180.5(SLC45A2):c.304C>T (p.Arg102Trp) rs760331451 0.00002
NM_016180.5(SLC45A2):c.593G>A (p.Gly198Asp) rs201259497 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_016239.4(MYO15A):c.7788-10A>G rs369105885 0.00002
NM_016616.5(NME8):c.1277T>A (p.Leu426Ter) rs121918300 0.00002
NM_016630.7(SPG21):c.141A>G (p.Ile47Met) rs776641719 0.00002
NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys) rs367904759 0.00002
NM_017668.3(NDE1):c.130C>T (p.Arg44Ter) rs747020521 0.00002
NM_017671.5(FERMT1):c.1718+2T>C rs760256639 0.00002
NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter) rs778649204 0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 0.00002
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00002
NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu) rs775141057 0.00002
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg) rs782371437 0.00002
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00002
NM_020041.3(SLC2A9):c.511C>T (p.Arg171Cys) rs776127501 0.00002
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter) rs1030149008 0.00002
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys) rs978886878 0.00002
NM_020461.4(TUBGCP6):c.5112del (p.Asp1705fs) rs764772232 0.00002
NM_020944.3(GBA2):c.515G>A (p.Arg172His) rs200268523 0.00002
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) rs758657734 0.00002
NM_021930.6(RINT1):c.1966C>T (p.Arg656Ter) rs780062646 0.00002
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_025137.4(SPG11):c.2317-13C>G rs372670941 0.00002
NM_025137.4(SPG11):c.4746_4747insTG (p.Asn1583Ter) rs764186203 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_032119.4(ADGRV1):c.17933A>G (p.His5978Arg) rs756460900 0.00002
NM_032409.3(PINK1):c.665G>A (p.Trp222Ter) rs777160388 0.00002
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687 0.00002
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp) rs267606684 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) rs121908144 0.00002
NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser) rs749464475 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu) rs755694066 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly) rs369626030 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu) rs140364490 0.00002
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu) rs376239580 0.00002
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His) rs55940927 0.00002
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492 0.00002
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln) rs200575329 0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493 0.00002
NM_177972.3(TUB):c.1387+1G>A rs1040410003 0.00002
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter) rs567106336 0.00002
NM_182894.3(VSX2):c.679C>T (p.Arg227Trp) rs121912545 0.00002
NM_183050.4(BCKDHB):c.1087T>A (p.Tyr363Asn) rs398124565 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00002
NR_023343.3(RNU4ATAC):n.118T>C rs863225423 0.00002
NC_000019.10:g.11089429C>T rs875989886 0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772 0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln) rs373852490 0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His) rs529894272 0.00001
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) rs183161718 0.00001
NM_000017.4(ACADS):c.1A>G (p.Met1Val) rs1291226969 0.00001
NM_000017.4(ACADS):c.268G>A (p.Gly90Ser) rs121908005 0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr) rs1351976589 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn) rs1057523504 0.00001
NM_000018.4(ACADVL):c.1182+3G>T rs376281637 0.00001
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn) rs1419606204 0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828 0.00001
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg) rs370282954 0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648 0.00001
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs) rs1555529088 0.00001
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr) rs200117742 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg) rs746688190 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg) rs763630981 0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090 0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln) rs202216257 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148 0.00001
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717 0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln) rs1046633404 0.00001
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys) rs1557052306 0.00001
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039 0.00001
NM_000039.3(APOA1):c.101G>T (p.Arg34Leu) rs28929476 0.00001
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) rs753829097 0.00001
NM_000045.4(ARG1):c.413G>T (p.Gly138Val) rs104893943 0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu) rs767219084 0.00001
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027 0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802 0.00001
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp) rs727503812 0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199 0.00001
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530 0.00001
NM_000048.4(ASL):c.722A>C (p.Glu241Ala) rs924321091 0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn) rs754995756 0.00001
NM_000049.4(ASPA):c.634+1G>T rs753871454 0.00001
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser) rs750505963 0.00001
NM_000051.4(ATM):c.3432G>A (p.Leu1144=) rs1060501625 0.00001
NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter) rs1453429915 0.00001
NM_000051.4(ATM):c.4909+4C>T rs587782125 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val) rs730881394 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000053.4(ATP7B):c.1946+6T>C rs751287778 0.00001
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491 0.00001
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro) rs377144951 0.00001
NM_000053.4(ATP7B):c.44del (p.Ser15fs) rs1192728612 0.00001
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) rs121918557 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.632-3C>G rs568027879 0.00001
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter) rs80359013 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000063.6(C2):c.1390G>A (p.Gly464Arg) rs151340617 0.00001
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000069.3(CACNA1S):c.1246C>T (p.Gln416Ter) rs1303215579 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719 0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) rs1157720606 0.00001
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196 0.00001
NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs) rs757045433 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000070.3(CAPN3):c.2230A>G (p.Ser744Gly) rs750083132 0.00001
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912 0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652 0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) rs121964971 0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn) rs758447354 0.00001
NM_000077.5(CDKN2A):c.104G>C (p.Gly35Ala) rs746834149 0.00001
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val) rs121434325 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000089.4(COL1A2):c.2958del (p.Val987fs) rs1064793527 0.00001
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg) rs757341933 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala) rs751952236 0.00001
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=) rs778832152 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357 0.00001
NM_000094.4(COL7A1):c.4484G>T (p.Gly1495Val) rs1381334911 0.00001
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu) rs121912845 0.00001
NM_000094.4(COL7A1):c.5173G>A (p.Gly1725Arg) rs772195825 0.00001
NM_000094.4(COL7A1):c.5291G>C (p.Gly1764Ala) rs1057520568 0.00001
NM_000094.4(COL7A1):c.5869C>T (p.Arg1957Trp) rs747081862 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.7060G>C (p.Gly2354Arg) rs748466015 0.00001
NM_000094.4(COL7A1):c.8654G>A (p.Cys2885Tyr) rs749519562 0.00001
NM_000096.4(CP):c.548T>C (p.Ile183Thr) rs386134123 0.00001
NM_000098.3(CPT2):c.1665C>G (p.His555Gln) rs1557719450 0.00001
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs) rs1044894207 0.00001
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487 0.00001
NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg) rs899478069 0.00001
NM_000128.4(F11):c.365G>A (p.Gly122Asp) rs369650561 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000135.4(FANCA):c.1153C>T (p.His385Tyr) rs757760966 0.00001
NM_000135.4(FANCA):c.2233dup (p.Trp745fs) rs2039278551 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709 0.00001
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346 0.00001
NM_000135.4(FANCA):c.4085T>A (p.Leu1362Ter) rs745688750 0.00001
NM_000135.4(FANCA):c.793-3C>G rs749688050 0.00001
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg) rs187177496 0.00001
NM_000138.5(FBN1):c.6163+2dup rs794728315 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.8051+5G>A rs767384075 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr) rs398123164 0.00001
NM_000146.4(FTL):c.1A>G (p.Met1Val) rs139732572 0.00001
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955 0.00001
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr) rs777552825 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) rs748047271 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.701C>T (p.Thr234Met) rs752054011 0.00001
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu) rs1365128831 0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met) rs766762599 0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000153.4(GALC):c.916G>A (p.Ala306Thr) rs1349064845 0.00001
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000155.4(GALT):c.377+2dup rs763662108 0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 0.00001
NM_000156.6(GAMT):c.328-1G>A rs756772965 0.00001
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln) rs774619760 0.00001
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn) rs1209123501 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000159.4(GCDH):c.1015A>G (p.Met339Val) rs752234195 0.00001
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys) rs1555751336 0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675 0.00001
NM_000159.4(GCDH):c.300G>A (p.Met100Ile) rs759838598 0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) rs1176799813 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser) rs751742575 0.00001
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys) rs1328059662 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val) rs397515873 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr) rs373263202 0.00001
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu) rs373482451 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp) rs761957837 0.00001
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp) rs1286882965 0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln) rs749512886 0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala) rs1554648117 0.00001
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu) rs138484426 0.00001
NM_000171.4(GLRA1):c.523A>G (p.Met175Val) rs121918414 0.00001
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00001
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) rs749741013 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val) rs121918175 0.00001
NM_000181.4(GUSB):c.1747G>A (p.Gly583Arg) rs757015172 0.00001
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) rs121918176 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844 0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys) rs780351691 0.00001
NM_000183.3(HADHB):c.255-1G>A rs112842641 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113 0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) rs760106433 0.00001
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341 0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 0.00001
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821 0.00001
NM_000229.2(LCAT):c.110C>T (p.Thr37Met) rs971887742 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser) rs779516489 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp) rs121434561 0.00001
NM_000237.3(LPL):c.590G>A (p.Arg197His) rs372668179 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg) rs267607995 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_000255.4(MMUT):c.422C>T (p.Ala141Val) rs565348836 0.00001
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800 0.00001
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln) rs397515964 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn) rs564101364 0.00001
NM_000257.4(MYH7):c.2135G>T (p.Arg712Leu) rs1224554825 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln) rs397516253 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.2695-9A>G rs1397029418 0.00001
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789 0.00001
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val) rs746006696 0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478 0.00001
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000270.4(PNP):c.265G>A (p.Glu89Lys) rs104894453 0.00001
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.2269G>A (p.Val757Met) rs777156729 0.00001
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr) rs1046046139 0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000274.4(OAT):c.162C>A (p.Asn54Lys) rs121965048 0.00001
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val) rs749661379 0.00001
NM_000275.3(OCA2):c.1378C>T (p.Leu460Phe) rs748692597 0.00001
NM_000275.3(OCA2):c.2079G>A (p.Glu693=) rs1374558186 0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755 0.00001
NM_000275.3(OCA2):c.573+5G>A rs1432628513 0.00001
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe) rs1402168594 0.00001
NM_000277.3(PAH):c.176A>T (p.Asp59Val) rs199475672 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.281T>G (p.Ile94Ser) rs62508677 0.00001
NM_000277.3(PAH):c.307G>T (p.Gly103Cys) rs752792040 0.00001
NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del) rs398123291 0.00001
NM_000277.3(PAH):c.441+4A>G rs62508586 0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647 0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000277.3(PAH):c.532G>A (p.Glu178Lys) rs1448720360 0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577 0.00001
NM_000277.3(PAH):c.789C>G (p.Phe263Leu) rs62642944 0.00001
NM_000277.3(PAH):c.969+6T>A rs62517196 0.00001
NM_000277.3(PAH):c.970A>G (p.Ile324Val) rs1221031352 0.00001
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907 0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304 0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734 0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330 0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793 0.00001
NM_000283.4(PDE6B):c.1920+2T>C rs763996159 0.00001
NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg) rs781658083 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp) rs104894034 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter) rs1273669177 0.00001
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022 0.00001
NM_000293.3(PHKB):c.522del (p.Val175fs) rs1242540921 0.00001
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro) rs1567261889 0.00001
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter) rs560414449 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000303.3(PMM2):c.284del (p.Leu95fs) rs757865122 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter) rs761275346 0.00001
NM_000308.4(CTSA):c.394G>A (p.Val132Met) rs137854545 0.00001
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter) rs766114836 0.00001
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro) rs386833639 0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu) rs746043871 0.00001
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) rs1211098698 0.00001
NM_000312.4(PROC):c.400+5G>C rs199469478 0.00001
NM_000312.4(PROC):c.629C>T (p.Pro210Leu) rs121918145 0.00001
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000317.3(PTS):c.187A>G (p.Ile63Val) rs778053171 0.00001
NM_000317.3(PTS):c.216T>A (p.Asn72Lys) rs200279736 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_000334.4(SCN4A):c.4379G>A (p.Arg1460Gln) rs1210934866 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000335.5(SCN5A):c.2432G>A (p.Arg811His) rs769349991 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.3688G>A (p.Glu1230Lys) rs199473598 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.4931C>T (p.Thr1644Met) rs199473288 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His) rs121912697 0.00001
NM_000342.4(SLC4A1):c.1936C>T (p.Arg646Trp) rs121912758 0.00001
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893 0.00001
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly) rs121912669 0.00001
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420 0.00001
NM_000350.3(ABCA4):c.1342A>G (p.Met448Val) rs1169850759 0.00001
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 0.00001
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437 0.00001
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp) rs886039300 0.00001
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368 0.00001
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr) rs1385119665 0.00001
NM_000350.3(ABCA4):c.4775G>A (p.Gly1592Asp) rs1425552175 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.6122G>A (p.Gly2041Asp) rs1462350577 0.00001
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646 0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe) rs542947894 0.00001
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys) rs1468762603 0.00001
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271 0.00001
NM_000353.3(TAT):c.1250G>A (p.Arg417Gln) rs757879229 0.00001
NM_000353.3(TAT):c.355C>T (p.Arg119Trp) rs758306831 0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 0.00001
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg) rs778635368 0.00001
NM_000360.4(TH):c.733A>C (p.Thr245Pro) rs28934581 0.00001
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764 0.00001
NM_000363.5(TNNI3):c.146dup (p.Lys50fs) rs1162696593 0.00001
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243 0.00001
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln) rs1565538350 0.00001
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp) rs397515522 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000371.4(TTR):c.239C>T (p.Thr80Ile) rs1254341785 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000372.5(TYR):c.864A>T (p.Leu288Phe) rs371985121 0.00001
NM_000372.5(TYR):c.865T>C (p.Cys289Arg) rs1468041471 0.00001
NM_000374.5(UROD):c.425G>A (p.Arg142Gln) rs1182234844 0.00001
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016 0.00001
NM_000376.3(VDR):c.88C>T (p.Arg30Ter) rs121909801 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln) rs376342597 0.00001
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000391.4(TPP1):c.1222_1224del (p.Ser408del) rs1474804613 0.00001
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly) rs1192702664 0.00001
NM_000391.4(TPP1):c.887-10A>G rs755445790 0.00001
NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg) rs765570396 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn) rs121913023 0.00001
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter) rs774392894 0.00001
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365 0.00001
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys) rs1553606400 0.00001
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn) rs780232995 0.00001
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) rs72555371 0.00001
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) rs778700089 0.00001
NM_000410.4(HFE):c.314T>C (p.Ile105Thr) rs28934596 0.00001
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442 0.00001
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) rs58730926 0.00001
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574 0.00001
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573 0.00001
NM_000426.4(LAMA2):c.2749+2dup rs759144210 0.00001
NM_000429.3(MAT1A):c.164C>A (p.Ala55Asp) rs118204002 0.00001
NM_000433.4(NCF2):c.230G>A (p.Arg77Gln) rs119103275 0.00001
NM_000434.4(NEU1):c.615G>A (p.Gln205=) rs781137251 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122 0.00001
NM_000441.2(SLC26A4):c.397T>C (p.Ser133Pro) rs121908365 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000443.4(ABCB4):c.1006-1G>T rs772823352 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000451.4(SHOX):c.440G>A (p.Arg147His) rs886043634 0.00001
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val) rs1283652721 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000478.6(ALPL):c.1172G>A (p.Arg391His) rs1442918125 0.00001
NM_000478.6(ALPL):c.1190G>A (p.Gly397Asp) rs1400042777 0.00001
NM_000478.6(ALPL):c.1375G>A (p.Val459Met) rs1054159992 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.1444C>A (p.His482Asn) rs780857373 0.00001
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg) rs1057521085 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys) rs1374504617 0.00001
NM_000478.6(ALPL):c.530C>T (p.Ala177Val) rs1114167438 0.00001
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu) rs768555495 0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val) rs121918005 0.00001
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter) rs768976020 0.00001
NM_000481.4(AMT):c.-58C>T rs753743263 0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603 0.00001
NM_000481.4(AMT):c.350C>T (p.Ser117Leu) rs769468125 0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376 0.00001
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388 0.00001
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350 0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386 0.00001
NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val) rs121909568 0.00001
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg) rs397508154 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr) rs397508222 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu) rs387906368 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.1837G>A (p.Ala613Thr) rs201978662 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.273+4A>G rs387906374 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro) rs397508708 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000492.4(CFTR):c.94C>A (p.Leu32Met) rs776797377 0.00001
NM_000497.4(CYP11B1):c.595+1G>A rs1264073726 0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) rs12530380 0.00001
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199 0.00001
NM_000505.4(F12):c.158A>G (p.Tyr53Cys) rs118204455 0.00001
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu) rs752339162 0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val) rs1401175486 0.00001
NM_000512.5(GALNS):c.1483-15A>G rs1461992033 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro) rs771810111 0.00001
NM_000512.5(GALNS):c.911G>T (p.Gly304Val) rs758439379 0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro) rs141120074 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His) rs1479483693 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.1187G>A (p.Gly396Asp) rs766474188 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 0.00001
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro) rs200143634 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys) rs2077458389 0.00001
NM_000527.5(LDLR):c.1658A>G (p.Tyr553Cys) rs879254974 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp) rs1410295777 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.1943C>T (p.Ser648Phe) rs1555807266 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn) rs879255094 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) rs547268730 0.00001
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 0.00001
NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser) rs1555809614 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.392A>G (p.Asp131Gly) rs730882081 0.00001
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala) rs1317204420 0.00001
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro) rs763233960 0.00001
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn) rs139089530 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys) rs879254657 0.00001
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys) rs1208667598 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NM_000527.5(LDLR):c.889A>C (p.Asn297His) rs879254709 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333 0.00001
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356 0.00001
NM_000531.6(OTC):c.409G>A (p.Ala137Thr) rs72556258 0.00001
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068 0.00001
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) rs756414710 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000540.3(RYR1):c.10937+1G>C rs775682151 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14130-2A>G rs1457662393 0.00001
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His) rs193922875 0.00001
NM_000540.3(RYR1):c.1466G>T (p.Cys489Phe) rs1472590403 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter) rs1305971341 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000540.3(RYR1):c.223C>T (p.Arg75Ter) rs1346649518 0.00001
NM_000540.3(RYR1):c.2293G>C (p.Gly765Arg) rs1380227293 0.00001
NM_000540.3(RYR1):c.2577+1G>A rs1416605332 0.00001
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln) rs749040743 0.00001
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met) rs145088074 0.00001
NM_000540.3(RYR1):c.3424del (p.Trp1142fs) rs1168352165 0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00001
NM_000540.3(RYR1):c.3686_3699del (p.Met1229fs) rs774319202 0.00001
NM_000540.3(RYR1):c.3688C>T (p.Gln1230Ter) rs1186905126 0.00001
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter) rs587784376 0.00001
NM_000540.3(RYR1):c.529C>T (p.Arg177Cys) rs193922757 0.00001
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly) rs1568484835 0.00001
NM_000540.3(RYR1):c.631+1G>T rs374937694 0.00001
NM_000540.3(RYR1):c.6584C>T (p.Pro2195Leu) rs772003357 0.00001
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys) rs201465595 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826 0.00001
NM_000540.3(RYR1):c.8310+1G>T rs1970380121 0.00001
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293 0.00001
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu) rs762652935 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu) rs758210285 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr) rs371807951 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000551.4(VHL):c.340+770T>C rs1346312258 0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_000553.6(WRN):c.3130dup (p.Thr1044fs) rs1563376595 0.00001
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) rs771551785 0.00001
NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp) rs121918365 0.00001
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met) rs121918618 0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857 0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) rs398123486 0.00001
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp) rs769688327 0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) rs137852873 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000844.4(GRM7):c.1973G>A (p.Arg658Gln) rs769709112 0.00001
NM_001002755.4(NFU1):c.103C>T (p.Gln35Ter) rs1339043479 0.00001
NM_001002755.4(NFU1):c.398T>C (p.Leu133Pro) rs770896590 0.00001
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_001003841.3(SLC6A19):c.728del (p.Thr243fs) rs1561165786 0.00001
NM_001003841.3(SLC6A19):c.908C>T (p.Ser303Leu) rs201212000 0.00001
NM_001005242.3(PKP2):c.1379-1998C>T rs151212477 0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met) rs1358566538 0.00001
NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter) rs756868889 0.00001
NM_001017361.3(KHDC3L):c.1A>G (p.Met1Val) rs606231235 0.00001
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln) rs755975980 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001032382.2(PQBP1):c.778C>T (p.Arg260Ter) rs781987043 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001035.3(RYR2):c.848+1G>A rs772984053 0.00001
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) rs730880194 0.00001
NM_001037.5(SCN1B):c.73G>A (p.Asp25Asn) rs786205837 0.00001
NM_001039213.4(CEACAM16):c.994C>T (p.Gln332Ter) rs1948141206 0.00001
NM_001040108.2(MLH3):c.3826T>C (p.Trp1276Arg) rs121908439 0.00001
NM_001040716.2(PC):c.467G>A (p.Arg156Gln) rs119103241 0.00001
NM_001042492.3(NF1):c.1627C>T (p.Gln543Ter) rs894292181 0.00001
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys) rs367684252 0.00001
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly) rs878853894 0.00001
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn) rs771597781 0.00001
NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro) rs770281448 0.00001
NM_001042681.2(RERE):c.3466G>A (p.Gly1156Arg) rs766951273 0.00001
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 0.00001
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter) rs888691362 0.00001
NM_001048174.2(MUTYH):c.264+10C>T rs369242529 0.00001
NM_001048174.2(MUTYH):c.2T>C (p.Met1Thr) rs201163858 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp) rs147487160 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954 0.00001
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) rs906284769 0.00001
NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp) rs781036625 0.00001
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615 0.00001
NM_001082971.2(DDC):c.853C>T (p.Arg285Trp) rs886062372 0.00001
NM_001098.3(ACO2):c.1132C>T (p.Arg378Ter) rs2066512609 0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_001103.4(ACTN2):c.574C>T (p.Arg192Ter) rs1253211384 0.00001
NM_001105206.3(LAMA4):c.2849C>T (p.Pro950Leu) rs387907365 0.00001
NM_001106.4(ACVR2B):c.1480G>A (p.Val494Ile) rs121434438 0.00001
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066 0.00001
NM_001122769.3(LCA5):c.2T>C (p.Met1Thr) rs1331645027 0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948 0.00001
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys) rs749742102 0.00001
NM_001127208.3(TET2):c.4354C>T (p.Arg1452Ter) rs1049545383 0.00001
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779 0.00001
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363 0.00001
NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln) rs387907347 0.00001
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) rs121908962 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys) rs1280185461 0.00001
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001135022.2(ELMOD3):c.512A>G (p.His171Arg) rs1280785617 0.00001
NM_001136191.3(KANK2):c.541A>G (p.Ser181Gly) rs1555820663 0.00001
NM_001137601.3(ZBTB42):c.1190G>A (p.Arg397His) rs730882163 0.00001
NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln) rs1028050037 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro) rs569561277 0.00001
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.294+1G>A rs759956258 0.00001
NM_001164508.2(NEB):c.3255+2dup rs1276026682 0.00001
NM_001164508.2(NEB):c.5763+5G>A rs776167256 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met) rs774937055 0.00001
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) rs568356836 0.00001
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645 0.00001
NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter) rs1310011888 0.00001
NM_001195518.2(MICU1):c.1A>G (p.Met1Val) rs747832014 0.00001
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250 0.00001
NM_001195553.2(DCX):c.587G>A (p.Arg196His) rs56030372 0.00001
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) rs28989185 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001252024.2(TRPM1):c.3148+1G>A rs779821510 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter) rs989552169 0.00001
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu) rs763252801 0.00001
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137 0.00001
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.34612+1G>A rs577363824 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter) rs1222471099 0.00001
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) rs727504244 0.00001
NM_001277115.2(DNAH11):c.10691+2T>C rs886039341 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) rs770961534 0.00001
NM_001302084.2(TOP6BL):c.1006T>C (p.Ser336Pro) rs1449401018 0.00001
NM_001330195.2(NRXN3):c.3142+3A>G rs531047390 0.00001
NM_001352514.2(HLCS):c.2451-1G>A rs1158898827 0.00001
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys) rs367757240 0.00001
NM_001354768.3(NRL):c.544C>T (p.Gln182Ter) rs901811301 0.00001
NM_001354768.3(NRL):c.713G>T (p.Ter238Leu) rs754136527 0.00001
NM_001358263.1(HK1):c.75+20308C>T rs756166032 0.00001
NM_001358921.2(COQ2):c.800C>T (p.Thr267Met) rs761785906 0.00001
NM_001360.3(DHCR7):c.1083C>A (p.Phe361Leu) rs780088227 0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser) rs769218623 0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782 0.00001
NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys) rs373121544 0.00001
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg) rs777248132 0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) rs782308266 0.00001
NM_001365536.1(SCN9A):c.377+5C>T rs200972952 0.00001
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779 0.00001
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg) rs1428534050 0.00001
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00001
NM_001369.3(DNAH5):c.5992G>A (p.Gly1998Arg) rs1298790222 0.00001
NM_001369.3(DNAH5):c.6444G>A (p.Gln2148=) rs769544175 0.00001
NM_001369.3(DNAH5):c.8827C>T (p.Arg2943Cys) rs758324905 0.00001
NM_001369.3(DNAH5):c.9720+5G>A rs763440781 0.00001
NM_001369369.1(FOXN1):c.958C>T (p.Arg320Trp) rs1288977950 0.00001
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter) rs118203974 0.00001
NM_001370298.3(FGD4):c.2167G>T (p.Gly723Ter) rs118203973 0.00001
NM_001370595.2(COA8):c.314T>C (p.Phe105Ser) rs587777786 0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412 0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) rs771537277 0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363 0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364 0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383 0.00001
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057 0.00001
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln) rs1275962600 0.00001
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His) rs749704755 0.00001
NM_001371904.1(APOA5):c.111del (p.Asp37fs) rs1365337213 0.00001
NM_001371904.1(APOA5):c.888del (p.Ile296fs) rs1477198098 0.00001
NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter) rs747862347 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_001378778.1(MPDZ):c.4171C>T (p.Arg1391Ter) rs777752091 0.00001
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu) rs369163833 0.00001
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile) rs576564400 0.00001
NM_001379659.1(ZNF142):c.4298G>T (p.Cys1433Phe) rs1275959058 0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg) rs780560784 0.00001
NM_001384732.1(CPLANE1):c.3805G>C (p.Ala1269Pro) rs775914551 0.00001
NM_001384732.1(CPLANE1):c.7588+7A>G rs773662834 0.00001
NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser) rs775975702 0.00001
NM_001387263.1(PATL2):c.1108G>A (p.Gly370Arg) rs1397500378 0.00001
NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr) rs1011539285 0.00001
NM_001395656.1(ROBO2):c.2846T>C (p.Ile949Thr) rs267607014 0.00001
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn) rs770597316 0.00001
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln) rs201335279 0.00001
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001
NM_001611.5(ACP5):c.831_833del (p.Tyr278del) rs387906671 0.00001
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe) rs754043007 0.00001
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro) rs587777316 0.00001
NM_001814.6(CTSC):c.1A>G (p.Met1Val) rs886048742 0.00001
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg) rs104894208 0.00001
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) rs794727533 0.00001
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp) rs2078657536 0.00001
NM_001875.5(CPS1):c.2740G>C (p.Asp914His) rs765484849 0.00001
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445 0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys) rs767905306 0.00001
NM_001918.5(DBT):c.1017G>A (p.Lys339=) rs1490661508 0.00001
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys) rs727503896 0.00001
NM_001918.5(DBT):c.902G>A (p.Arg301His) rs770981889 0.00001
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu) rs119103240 0.00001
NM_001939.3(DRP2):c.43C>T (p.Arg15Ter) rs756695526 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_001953.5(TYMP):c.929-1G>A rs1180285291 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002047.4(GARS1):c.929G>A (p.Arg310Gln) rs1135401748 0.00001
NM_002063.4(GLRA2):c.754C>T (p.Arg252Cys) rs748764171 0.00001
NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?) rs1567479117 0.00001
NM_002185.5(IL7R):c.83-2A>T rs886060531 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682 0.00001
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val) rs121908592 0.00001
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln) rs397514673 0.00001
NM_002246.3(KCNK3):c.544G>A (p.Glu182Lys) rs398123042 0.00001
NM_002296.4(LBR):c.1366C>G (p.Leu456Val) rs377110126 0.00001
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) rs746136135 0.00001
NM_002335.4(LRP5):c.1330C>T (p.Arg444Cys) rs80358308 0.00001
NM_002439.5(MSH3):c.909G>C (p.Lys303Asn) rs757164724 0.00001
NM_002468.5(MYD88):c.586C>T (p.Arg196Cys) rs137853064 0.00001
NM_002468.5(MYD88):c.751C>T (p.Arg251Ter) rs748659894 0.00001
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln) rs1001570418 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.2563G>T (p.Val855Leu) rs771254207 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) rs781256643 0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His) rs780953863 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002887.4(RARS1):c.1414C>T (p.Arg472Ter) rs180760483 0.00001
NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter) rs782245537 0.00001
NM_003000.3(SDHB):c.80G>A (p.Arg27Gln) rs373976827 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val) rs746187344 0.00001
NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr) rs369354736 0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser) rs1157198543 0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159 0.00001
NM_003060.4(SLC22A5):c.394-16T>A rs775097754 0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184 0.00001
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro) rs386134197 0.00001
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln) rs756535079 0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_003235.5(TG):c.638+5G>A rs774274702 0.00001
NM_003244.4(TGIF1):c.485C>T (p.Ser162Phe) rs121909069 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003321.5(TUFM):c.216_226dup (p.Leu76fs) rs764459387 0.00001
NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp) rs121909077 0.00001
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) rs373519519 0.00001
NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys) rs369608407 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830 0.00001
NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter) rs1216811263 0.00001
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998 0.00001
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln) rs587784332 0.00001
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys) rs587784337 0.00001
NM_003560.4(PLA2G6):c.1754C>T (p.Thr585Ile) rs587784338 0.00001
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser) rs754204295 0.00001
NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys) rs1048444597 0.00001
NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu) rs2087135251 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) rs121908682 0.00001
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363 0.00001
NM_003673.4(TCAP):c.334C>T (p.Gln112Ter) rs794729175 0.00001
NM_003718.5(CDK13):c.2995C>T (p.Arg999Ter) rs1175530571 0.00001
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter) rs778357787 0.00001
NM_003730.6(RNASET2):c.567G>A (p.Gln189=) rs1191342507 0.00001
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs) rs781171287 0.00001
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His) rs756220860 0.00001
NM_003764.4(STX11):c.173T>C (p.Leu58Pro) rs431905512 0.00001
NM_003865.3(HESX1):c.18G>C (p.Gln6His) rs121909173 0.00001
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696 0.00001
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu) rs28936703 0.00001
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val) rs768420488 0.00001
NM_003982.4(SLC7A7):c.161G>T (p.Gly54Val) rs121908677 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.32_45del (p.Gly11fs) rs1290698257 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249 0.00001
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg) rs1203386884 0.00001
NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter) rs776926045 0.00001
NM_004092.4(ECHS1):c.88+5G>A rs761464256 0.00001
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) rs778207102 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 0.00001
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg) rs281865218 0.00001
NM_004211.5(SLC6A5):c.2070+1G>A rs770660705 0.00001
NM_004211.5(SLC6A5):c.683C>A (p.Ala228Asp) rs371265931 0.00001
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) rs868064163 0.00001
NM_004320.6(ATP2A1):c.1287G>A (p.Glu429=) rs200596448 0.00001
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256 0.00001
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln) rs765742496 0.00001
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) rs141407224 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg) rs763541530 0.00001
NM_004551.3(NDUFS3):c.419G>A (p.Arg140Gln) rs372417584 0.00001
NM_004569.5(PIGH):c.487C>T (p.Arg163Trp) rs370763975 0.00001
NM_004614.5(TK2):c.191C>T (p.Thr64Met) rs281865487 0.00001
NM_004614.5(TK2):c.588A>T (p.Arg196Ser) rs752949191 0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter) rs149721361 0.00001
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met) rs267606918 0.00001
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys) rs753476209 0.00001
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys) rs387906838 0.00001
NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn) rs753708048 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_004863.4(SPTLC2):c.1075G>A (p.Val359Met) rs267607090 0.00001
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00001
NM_004870.4(MPDU1):c.511del (p.Leu171fs) rs756471132 0.00001
NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter) rs1555178348 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559 0.00001
NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp) rs199422225 0.00001
NM_005033.3(EXOSC9):c.329dup (p.Arg111fs) rs754121759 0.00001
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp) rs587777332 0.00001
NM_005198.5(CHKB):c.1031+3G>C rs751176079 0.00001
NM_005228.5(EGFR):c.2327G>A (p.Arg776His) rs483352806 0.00001
NM_005228.5(EGFR):c.292C>T (p.Arg98Ter) rs1794575659 0.00001
NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp) rs397514263 0.00001
NM_005245.4(FAT1):c.12808C>T (p.Arg4270Ter) rs373689624 0.00001
NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln) rs753690500 0.00001
NM_005276.4(GPD1):c.895G>A (p.Gly299Arg) rs889092603 0.00001
NM_005340.7(HINT1):c.355C>T (p.Arg119Trp) rs768248277 0.00001
NM_005422.4(TECTA):c.4665del (p.Ile1556fs) rs764570434 0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476 0.00001
NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn) rs104894485 0.00001
NM_005518.4(HMGCS2):c.160G>A (p.Val54Met) rs28937320 0.00001
NM_005529.7(HSPG2):c.1120C>T (p.Arg374Ter) rs759220039 0.00001
NM_005529.7(HSPG2):c.12922C>T (p.Gln4308Ter) rs2097958823 0.00001
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val) rs1415687857 0.00001
NM_005589.4(ALDH6A1):c.1603C>T (p.Arg535Cys) rs367863044 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu) rs794727189 0.00001
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg) rs760654579 0.00001
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566 0.00001
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188 0.00001
NM_005912.3(MC4R):c.496G>A (p.Val166Ile) rs942758928 0.00001
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) rs121913561 0.00001
NM_005957.5(MTHFR):c.1088G>A (p.Arg363His) rs786204023 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_005957.5(MTHFR):c.767T>A (p.Ile256Asn) rs373398993 0.00001
NM_005984.5(SLC25A1):c.389G>A (p.Gly130Asp) rs368647424 0.00001
NM_005993.5(TBCD):c.686T>G (p.Leu229Arg) rs778417127 0.00001
NM_005993.5(TBCD):c.880C>T (p.Arg294Trp) rs1064796675 0.00001
NM_006000.3(TUBA4A):c.643C>T (p.Arg215Cys) rs730880028 0.00001
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr) rs372249044 0.00001
NM_006012.4(CLPP):c.520C>T (p.Arg174Cys) rs1244525711 0.00001
NM_006017.3(PROM1):c.1579-1G>C rs372513650 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897 0.00001
NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs) rs778391726 0.00001
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006231.4(POLE):c.1191C>G (p.Tyr397Ter) rs1208085896 0.00001
NM_006231.4(POLE):c.1420G>A (p.Val474Ile) rs980578884 0.00001
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter) rs139603739 0.00001
NM_006231.4(POLE):c.4111C>T (p.Arg1371Ter) rs151278283 0.00001
NM_006231.4(POLE):c.5032C>T (p.Gln1678Ter) rs1301816028 0.00001
NM_006231.4(POLE):c.5221C>T (p.Gln1741Ter) rs781481160 0.00001
NM_006231.4(POLE):c.5678+1G>A rs138748289 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp) rs606231297 0.00001
NM_006294.5(UQCRB):c.306_309del (p.Arg105fs) rs886043294 0.00001
NM_006302.3(MOGS):c.1862dup (p.Ala621_Glu622insTer) rs1399649784 0.00001
NM_006432.5(NPC2):c.115G>A (p.Val39Met) rs80358261 0.00001
NM_006459.4(ERLIN1):c.763C>T (p.Arg255Ter) rs876657413 0.00001
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_006502.3(POLH):c.1766A>C (p.Lys589Thr) rs121908565 0.00001
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln) rs80359815 0.00001
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) rs121907988 0.00001
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp) rs772067625 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_006859.4(LIAS):c.542A>T (p.Asp181Val) rs1553934355 0.00001
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu) rs869312808 0.00001
NM_006859.4(LIAS):c.746G>A (p.Arg249His) rs144133667 0.00001
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) rs201579632 0.00001
NM_006929.5(SKIC2):c.3088C>T (p.Arg1030Ter) rs781544014 0.00001
NM_006941.4(SOX10):c.482G>A (p.Arg161His) rs750566714 0.00001
NM_007118.4(TRIO):c.2105C>T (p.Ser702Leu) rs1487014323 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007215.4(POLG2):c.341G>A (p.Trp114Ter) rs1064794586 0.00001
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp) rs886037843 0.00001
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) rs753594601 0.00001
NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter) rs1481659687 0.00001
NM_007272.3(CTRC):c.494-1G>C rs766917452 0.00001
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile) rs80357043 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474 0.00001
NM_007294.4(BRCA1):c.5406+5G>T rs80358073 0.00001
NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp) rs765246909 0.00001
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp) rs121908081 0.00001
NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys) rs753997682 0.00001
NM_012268.4(PLD3):c.923T>C (p.Leu308Pro) rs537053537 0.00001
NM_012275.3(IL36RN):c.304C>T (p.Arg102Trp) rs199932303 0.00001
NM_012338.4(TSPAN12):c.149+3A>G rs367887017 0.00001
NM_012472.6(DNAAF11):c.220G>C (p.Ala74Pro) rs397514596 0.00001
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu) rs756751089 0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206 0.00001
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_014000.3(VCL):c.2923C>T (p.Arg975Trp) rs121917776 0.00001
NM_014014.5(SNRNP200):c.6308A>G (p.Asn2103Ser) rs780795928 0.00001
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val) rs762521317 0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln) rs398122839 0.00001
NM_014270.5(SLC7A9):c.605-3C>A rs749913021 0.00001
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) rs757976755 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) rs1330112951 0.00001
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter) rs1023630527 0.00001
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631 0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) rs745790694 0.00001
NM_014845.6(FIG4):c.290-2A>T rs587777715 0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) rs121908288 0.00001
NM_014855.3(AP5Z1):c.412C>T (p.Arg138Ter) rs778457903 0.00001
NM_014855.3(AP5Z1):c.616C>T (p.Arg206Trp) rs761451474 0.00001
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488 0.00001
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp) rs373107074 0.00001
NM_014915.3(ANKRD26):c.-126T>C rs1589393792 0.00001
NM_015047.3(EMC1):c.2575C>T (p.Arg859Ter) rs764914973 0.00001
NM_015114.3(ANKLE2):c.1606C>T (p.Arg536Cys) rs761627940 0.00001
NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter) rs201785518 0.00001
NM_015166.4(MLC1):c.177+1G>T rs1374593138 0.00001
NM_015214.3(DDHD2):c.568C>T (p.Arg190Ter) rs377293194 0.00001
NM_015231.3(NUP160):c.2305G>A (p.Glu769Lys) rs775637217 0.00001
NM_015231.3(NUP160):c.2626C>T (p.Arg876Ter) rs766361033 0.00001
NM_015295.3(SMCHD1):c.1580C>T (p.Thr527Met) rs397518422 0.00001
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser) rs786201031 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015450.3(POT1):c.280C>G (p.Gln94Glu) rs587777474 0.00001
NM_015488.5(PNKD):c.97G>C (p.Ala33Pro) rs121434513 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_016035.5(COQ4):c.190C>T (p.Pro64Ser) rs766317663 0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val) rs757173567 0.00001
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro) rs387907195 0.00001
NM_016123.4(IRAK4):c.34C>T (p.Arg12Cys) rs377584435 0.00001
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln) rs770654508 0.00001
NM_016146.6(TRAPPC4):c.278C>T (p.Pro93Leu) rs1307746359 0.00001
NM_016180.5(SLC45A2):c.1032G>T (p.Gln344His) rs794727645 0.00001
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys) rs387906885 0.00001
NM_016222.4(DDX41):c.364G>T (p.Glu122Ter) rs200567842 0.00001
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg) rs746166328 0.00001
NM_016239.4(MYO15A):c.10263C>G (p.Ile3421Met) rs748246442 0.00001
NM_016239.4(MYO15A):c.5810G>A (p.Arg1937His) rs374183624 0.00001
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys) rs371352836 0.00001
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser) rs375459945 0.00001
NM_016239.4(MYO15A):c.8375T>C (p.Val2792Ala) rs983107737 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_016302.4(CRBN):c.1255C>T (p.Arg419Ter) rs121918368 0.00001
NM_016529.6(ATP8A2):c.130_131del (p.Ala44fs) rs774959381 0.00001
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter) rs779387647 0.00001
NM_017534.6(MYH2):c.52C>T (p.Arg18Ter) rs769712128 0.00001
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile) rs756953958 0.00001
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616 0.00001
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu) rs1060505019 0.00001
NM_017662.5(TRPM6):c.166C>T (p.Arg56Ter) rs121912624 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017827.4(SARS2):c.1205G>A (p.Arg402His) rs370842354 0.00001
NM_017831.4(RNF125):c.488C>T (p.Ser163Leu) rs373764886 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622 0.00001
NM_018006.5(TRMU):c.2T>G (p.Met1Arg) rs118203992 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588 0.00001
NM_018105.3(THAP1):c.266A>G (p.Lys89Arg) rs267607111 0.00001
NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp) rs200670286 0.00001
NM_018191.4(RCBTB1):c.930G>T (p.Trp310Cys) rs772592456 0.00001
NM_018196.4(TMLHE):c.359-2A>G rs782792356 0.00001
NM_018297.4(NGLY1):c.930C>T (p.Gly310=) rs745814294 0.00001
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209 0.00001
NM_018344.6(SLC29A3):c.1157G>A (p.Arg386Gln) rs397515429 0.00001
NM_018344.6(SLC29A3):c.607T>C (p.Ser203Pro) rs397514626 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_018475.5(TMEM165):c.376C>T (p.Arg126Cys) rs387907222 0.00001
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala) rs587777301 0.00001
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys) rs587777300 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_018946.4(NANS):c.709C>T (p.Arg237Cys) rs878852982 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034 0.00001
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906 0.00001
NM_019042.5(PUS7):c.1160C>T (p.Thr387Met) rs916775904 0.00001
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740 0.00001
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442 0.00001
NM_020442.6(VARS2):c.1400G>A (p.Arg467His) rs775439829 0.00001
NM_020451.3(SELENON):c.372G>A (p.Trp124Ter) rs934913626 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_020458.4(TTC7A):c.1616C>T (p.Ser539Leu) rs776906926 0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys) rs121912816 0.00001
NM_020686.6(ABAT):c.1129C>T (p.Arg377Trp) rs1330995774 0.00001
NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter) rs1431206462 0.00001
NM_020919.4(ALS2):c.575C>T (p.Pro192Leu) rs778003334 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly) rs1064795812 0.00001
NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs) rs772188600 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) rs137852956 0.00001
NM_021831.6(AGBL5):c.826C>T (p.Arg276Trp) rs879253769 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.1510-1G>A rs772678337 0.00001
NM_021969.3(NR0B2):c.583G>T (p.Ala195Ser) rs74315350 0.00001
NM_022041.4(GAN):c.1447C>T (p.Gln483Ter) rs119485089 0.00001
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys) rs119485088 0.00001
NM_022041.4(GAN):c.601C>T (p.Arg201Ter) rs119485090 0.00001
NM_022041.4(GAN):c.877C>T (p.Arg293Ter) rs370358470 0.00001
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser) rs397514743 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019 0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) rs121908451 0.00001
NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp) rs121918277 0.00001
NM_022445.4(TPK1):c.479C>T (p.Ser160Leu) rs758949475 0.00001
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys) rs104894679 0.00001
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys) rs387907040 0.00001
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys) rs387907039 0.00001
NM_024537.4(CARS2):c.649_651del (p.Glu217del) rs753472937 0.00001
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr) rs727505361 0.00001
NM_024537.4(CARS2):c.752C>T (p.Pro251Leu) rs557671802 0.00001
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024678.6(NARS2):c.500A>G (p.His167Arg) rs750594551 0.00001
NM_024757.5(EHMT1):c.2842C>T (p.Arg948Trp) rs368702408 0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val) rs532178791 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 0.00001
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu) rs767519084 0.00001
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu) rs764053964 0.00001
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys) rs1342598444 0.00001
NM_031433.4(MFRP):c.1549C>T (p.Arg517Trp) rs730882144 0.00001
NM_031942.5(CDCA7):c.1148G>A (p.Arg383His) rs772929976 0.00001
NM_032043.3(BRIP1):c.1A>G (p.Met1Val) rs764585550 0.00001
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924 0.00001
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter) rs199476412 0.00001
NM_032806.6(POMGNT2):c.473G>A (p.Arg158His) rs387907300 0.00001
NM_033004.4(NLRP1):c.2176C>T (p.Arg726Trp) rs776245016 0.00001
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys) rs104893743 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) rs267606686 0.00001
NM_033453.4(ITPA):c.488+1G>A rs1380443187 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp) rs555811074 0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687 0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708 0.00001
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284 0.00001
NM_053013.4(ENO3):c.559G>A (p.Glu187Lys) rs772218199 0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643 0.00001
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln) rs121908648 0.00001
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro) rs774962204 0.00001
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp) rs765730332 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe) rs1204316787 0.00001
NM_133259.4(LRPPRC):c.1582+7A>G rs863225446 0.00001
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs) rs747170980 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser) rs727504090 0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys) rs777158800 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp) rs1278235097 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464 0.00001
NM_139276.3(STAT3):c.1919A>T (p.Tyr640Phe) rs769031989 0.00001
NM_139276.3(STAT3):c.1981G>T (p.Asp661Tyr) rs747639500 0.00001
NM_144573.4(NEXN):c.1171C>T (p.Arg391Ter) rs200106758 0.00001
NM_144585.4(SLC22A12):c.1096G>C (p.Gly366Arg) rs1047976958 0.00001
NM_144991.3(TSPEAR):c.802C>T (p.Arg268Ter) rs782471965 0.00001
NM_145020.5(CFAP53):c.472A>G (p.Arg158Gly) rs886037751 0.00001
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser) rs375343753 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp) rs28941781 0.00001
NM_152268.4(PARS2):c.836C>T (p.Ser279Leu) rs730882153 0.00001
NM_152383.5(DIS3L2):c.2394+5G>A rs1489037110 0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574 0.00001
NM_152490.5(B3GALNT2):c.1368+1G>A rs1479230229 0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072 0.00001
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414 0.00001
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His) rs769611275 0.00001
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu) rs587783517 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln) rs984651812 0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val) rs368001837 0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_173076.3(ABCA12):c.3456G>A (p.Ser1152=) rs1249431423 0.00001
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) rs786205162 0.00001
NM_173483.4(CYP4F22):c.1064C>T (p.Pro355Leu) rs760727576 0.00001
NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp) rs767352854 0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_174936.4(PCSK9):c.1426C>T (p.Arg476Cys) rs761767572 0.00001
NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys) rs1278890129 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_174936.4(PCSK9):c.1503G>A (p.Glu501=) rs986151799 0.00001
NM_174936.4(PCSK9):c.658G>A (p.Ala220Thr) rs768795323 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763 0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) rs371666412 0.00001
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile) rs766257867 0.00001
NM_177965.4(CFAP418):c.606G>A (p.Trp202Ter) rs1472751695 0.00001
NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter) rs527236107 0.00001
NM_181078.3(IL21R):c.602G>A (p.Arg201Gln) rs397514685 0.00001
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) rs104894715 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NM_182649.2(PCNA):c.683G>T (p.Ser228Ile) rs369958038 0.00001
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg) rs755799430 0.00001
NM_182943.3(PLOD2):c.1856G>A (p.Arg619His) rs121434461 0.00001
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter) rs1174316105 0.00001
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu) rs1304667430 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) rs398124571 0.00001
NM_194248.3(OTOF):c.2521G>A (p.Glu841Lys) rs772729658 0.00001
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) rs1060503011 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198282.4(STING1):c.841C>T (p.Arg281Trp) rs750077345 0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736 0.00001
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser) rs764160563 0.00001
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr) rs398123523 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys) rs137853136 0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) rs1003615909 0.00001
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe) rs770756678 0.00001
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys) rs111033395 0.00001
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His) rs140202956 0.00001
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys) rs921800139 0.00001
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala) rs774759345 0.00001
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839 0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471 0.00001
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe) rs748983904 0.00001
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile) rs200382994 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp) rs371996957 0.00001
NM_207352.4(CYP4V2):c.380T>A (p.Leu127Ter) rs1228072399 0.00001
NM_213599.3(ANO5):c.1391C>A (p.Ala464Asp) rs529961953 0.00001
NR_001566.3(TERC):n.35C>T rs199422260 0.00001
BRCA2: exon 2 deletion
FH Bologna 2
FH Vancouver 4
G6PD NARA rs587776730
GRCh37/hg19 10q24.2(chr10:100690060-100911811)x1
GRCh37/hg19 11q22.3(chr11:103128365-103282924)x1
GRCh37/hg19 12p13.33(chr12:1949889-1986237)x1
GRCh37/hg19 12p13.33(chr12:1950037-1986237)x1
GRCh37/hg19 13q12.11(chr13:20796981-21104487)x1
GRCh37/hg19 13q31.1(chr13:85812936-86436723)x1
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1
GRCh37/hg19 15q11.2(chr15:22770421-23277435)x1
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
GRCh37/hg19 15q11.2(chr15:22770421-23283811)x1
GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1
GRCh37/hg19 15q13.3(chr15:31352078-31392141)x1
GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1
GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3
GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
GRCh37/hg19 1p35.1(chr1:33490421-33599915)x1
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1
GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1
GRCh37/hg19 2q13(chr2:110504318-111365996)x1
GRCh37/hg19 2q13(chr2:110873834-110983418)x1
GRCh37/hg19 2q36.3(chr2:228534400-228589902)x1
GRCh37/hg19 5q14.3(chr5:89940237-89999954)x1
GRCh37/hg19 5q23.3(chr5:130138490-130513653)x1
GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1
GRCh37/hg19 9p24.3(chr9:209753-246900)x1
GRCh38/hg38 15q13.1-13.2(chr15:28694893-30073921)x3
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3
GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1
GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x3
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3
GRCh38/hg38 2p25.3(chr2:30341-507042)x3
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3
Multiple alleles
NC_000001.11:g.229432790C>G rs727503798
NC_000002.11:g.(?_191835429)_(192012929_?)del
NC_000002.12:g.(?_47482779)_(47482949_?)del
NC_000002.12:g.121530892C>G
NC_000003.12:g.169764651G>C rs199422286
NC_000004.11:g.(?_186064527)_(187630981_?)del
NC_000011.10:g.47333189C>T rs373746463
NC_000011.10:g.47342573C>T rs730880691
NC_000011.10:g.47347065C>T rs864622197
NC_000017.11:g.44001638C>T
NC_000018.9:g.77748581_77748614del34 rs535089924
NC_000019.10:g.11089397C>T
NC_000019.10:g.11089407C>G rs879254370
NC_000019.10:g.11089411del rs387906307
NC_000022.11:g.19721912_19724790del
NC_000023.11:g.70027902_70027919del rs397516668
NC_012920.1(MT-ATP6):m.8851T>C rs199476136
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NC_012920.1(MT-CYB):m.15257G>A rs41518645
NC_012920.1(MT-CYB):m.590A>G rs2068676854
NC_012920.1(MT-ND1):m.4216T>C rs1599988
NC_012920.1(MT-ND5):m.13051G>A rs1131692063
NC_012920.1(MT-ND5):m.13708G>A rs28359178
NC_012920.1(MT-TA):m.5631G>A rs786200950
NC_012920.1(MT-TF):m.622G>A rs118203887
NC_012920.1(MT-TK):m.8342G>A rs118192103
NC_012920.1(MT-TP):m.15958A>T rs2068750239
NC_012920.1(MT-TQ):m.4336T>C rs41456348
NG_009060.1(LDLR):g.4976CTC[2] rs1270618112
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val) rs771978135
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg) rs776312173
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.388-19T>A rs1553123252
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp) rs1553123263
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys) rs1553123858
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del) rs1553123869
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly) rs1553123872
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.6(ACADM):c.866T>C (p.Val289Ala) rs1057520215
NM_000016.6(ACADM):c.946-6T>G rs765793260
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000017.4(ACADS):c.1195C>T (p.Arg399Trp) rs375931905
NM_000017.4(ACADS):c.323G>A (p.Gly108Asp) rs387906951
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) rs777002501
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His) rs1555244280
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val) rs2071337130
NM_000018.4(ACADVL):c.1269+1del rs2071340733
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val) rs2071345754
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala) rs2309689
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000018.4(ACADVL):c.1808del (p.Cys603fs) rs2142990894
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter) rs2071404265
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter) rs1555529186
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142
NM_000018.4(ACADVL):c.1896dup (p.Asn633fs) rs2071412513
NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser) rs2071416769
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu) rs750653177
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly) rs2071225938
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.562G>A (p.Gly188Ser) rs2071231356
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000018.4(ACADVL):c.889_891del (p.Glu297del) rs796051914
NM_000018.4(ACADVL):c.898A>G (p.Met300Val) rs1026112888
NM_000018.4(ACADVL):c.911C>T (p.Ala304Val) rs1473375424
NM_000019.4(ACAT1):c.121-3C>G rs1591361919
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg) rs2139065261
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) rs1940810597
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala) rs63751229
NM_000022.4(ADA):c.467G>T (p.Arg156Leu) rs121908722
NM_000022.4(ADA):c.478+6T>A rs1555844600
NM_000022.4(ADA):c.698C>T (p.Thr233Ile) rs121908729
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000022.4(ADA):c.736C>T (p.Gln246Ter) rs1555844120
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs) rs1555569329
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000026.4(ADSL):c.502G>A (p.Val168Ile) rs1385675650
NM_000026.4(ADSL):c.581G>A (p.Arg194His) rs755359802
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000030.3(AGXT):c.1110_1111del (p.Asn372fs) rs796052075
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro) rs1569541011
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro) rs2091762647
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter) rs201114595
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) rs1569540692
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro) rs2091707324
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr) rs1569540700
NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe) rs2148389513
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro) rs2148389537
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr) rs781023784
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe) rs1554702442
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter) rs1586072383
NM_000038.6(APC):c.1042C>T (p.Arg348Ter) rs1314843920
NM_000038.6(APC):c.1626+3A>G rs1060503372
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.2240C>G (p.Ser747Ter) rs773020689
NM_000038.6(APC):c.2395dup (p.Tyr799fs) rs879254110
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2995C>T (p.Gln999Ter) rs75239284
NM_000038.6(APC):c.3147G>A (p.Trp1049Ter) rs863225340
NM_000038.6(APC):c.32dup (p.Gln12fs) rs1561444620
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.423-1G>A rs397514031
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs) rs387906234
NM_000038.6(APC):c.4645C>T (p.Gln1549Ter) rs863225357
NM_000038.6(APC):c.487C>T (p.Gln163Ter) rs863225362
NM_000038.6(APC):c.562C>T (p.Gln188Ter) rs869312753
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.6510del (p.Glu2172fs) rs1554087474
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.7964_7965del (p.Glu2655fs) rs2149997043
NM_000038.6(APC):c.8090C>G (p.Ser2697Ter)
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del) rs532489785
NM_000039.3(APOA1):c.500C>G (p.Pro167Arg) rs121912719
NM_000039.3(APOA1):c.664G>A (p.Glu222Lys) rs121912717
NM_000039.3(APOA1):c.85dup (p.Gln29fs) rs753348565
NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) rs121913079
NM_000043.6(FAS):c.809C>T (p.Thr270Ile) rs121913081
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup) rs752055010
NM_000044.6(AR):c.2164G>A (p.Ala722Thr) rs137852583
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp) rs1326930389
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg) rs866970619
NM_000046.5(ARSB):c.1178A>G (p.His393Arg) rs118203944
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr) rs1554069661
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp) rs1554069655
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys) rs751010538
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser) rs1554086402
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu) rs1554079333
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser) rs749989641
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000048.4(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg) rs1554328459
NM_000048.4(ASL):c.1300G>T (p.Val434Leu) rs773071023
NM_000048.4(ASL):c.437G>A (p.Arg146Gln) rs796051931
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000049.4(ASPA):c.437_449del (p.Ser146fs) rs2073669074
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr) rs1597438977
NM_000051.4(ATM):c.1235+4_1235+5del rs770033355
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.2639-22_2639-20del rs1064795554
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer) rs1555091431
NM_000051.4(ATM):c.4110-9C>G rs730881367
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter) rs1368412801
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly) rs1565463405
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.6198G>C (p.Gln2066His) rs786203341
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys) rs786203394
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.4(ATM):c.8418+5G>T rs1305740166
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter) rs797045330
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1707+1G>A rs1569549753
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter) rs797045336
NM_000052.7(ATP7A):c.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.7(ATP7A):c.1910C>G (p.Ser637Ter)
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1946+1G>C rs797045340
NM_000052.7(ATP7A):c.1946+5G>A rs797045341
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter) rs797045351
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2497A>G (p.Ser833Gly) rs2149096859
NM_000052.7(ATP7A):c.2499-1G>A rs797045359
NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu) rs797045360
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) rs72554652
NM_000052.7(ATP7A):c.3112-1G>A rs797045367
NM_000052.7(ATP7A):c.3801+1G>T rs797045386
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg) rs797045390
NM_000052.7(ATP7A):c.4005+1G>T rs797045391
NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del) rs797045392
NM_000052.7(ATP7A):c.4085C>T (p.Ala1362Val) rs2149112273
NM_000052.7(ATP7A):c.408_415del (p.Asn137fs) rs1569549587
NM_000052.7(ATP7A):c.4123+1G>A rs797045393
NM_000052.7(ATP7A):c.4132dup (p.Met1378fs) rs797045395
NM_000052.7(ATP7A):c.4226+5G>A rs797045398
NM_000052.7(ATP7A):c.4352del (p.Gly1451fs) rs1569550376
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2231C>T (p.Ser744Phe) rs1958498953
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) rs587783307
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr)
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del) rs1555283826
NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro) rs1257330000
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser) rs760285767
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu) rs1555282678
NM_000053.4(ATP7B):c.4309A>T (p.Lys1437Ter)
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs) rs1345677703
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr) rs1350192744
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.864del (p.Pro287_Cys288insTer)
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs) rs80359304
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1964del (p.Pro655fs) rs1555282375
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter) rs878853559
NM_000059.4(BRCA2):c.2254_2257del (p.Asp752fs) rs80359326
NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter) rs80358561
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.3344del (p.Ser1115fs) rs1135401900
NM_000059.4(BRCA2):c.3785C>A (p.Ser1262Ter) rs80358620
NM_000059.4(BRCA2):c.3873del (p.Gln1291fs) rs398122772
NM_000059.4(BRCA2):c.3901ACT[1] (p.Thr1302del) rs80359414
NM_000059.4(BRCA2):c.475+3A>G rs81002795
NM_000059.4(BRCA2):c.475+3A>T rs81002795
NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter) rs80358711
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del) rs397507349
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5723_5724del (p.Leu1908fs) rs886040608
NM_000059.4(BRCA2):c.632-2A>G rs397507842
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000059.4(BRCA2):c.6449_6450insTA (p.Lys2150fs) rs276174872
NM_000059.4(BRCA2):c.6901G>T (p.Glu2301Ter) rs80358915
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.774_775del (p.Glu260fs) rs75096777
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7805+3A>C rs81002810
NM_000059.4(BRCA2):c.7806-9T>G rs397507939
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys) rs80359011
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.7976+5G>A rs786201180
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.7976G>C (p.Arg2659Thr) rs80359027
NM_000059.4(BRCA2):c.7977-2A>T rs276174899
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser) rs56371528
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8488-9T>G
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8754+5G>A rs81002813
NM_000059.4(BRCA2):c.8954-3C>G rs81002844
NM_000059.4(BRCA2):c.8991T>G (p.Tyr2997Ter) rs397508028
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.4(BRCA2):c.9257-2A>G rs886040954
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.4(BRCA2):c.9466C>T (p.Gln3156Ter) rs276174925
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000062.3(SERPING1):c.1394C>T (p.Ala465Val) rs121907950
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000062.3(SERPING1):c.871A>C (p.Asn291His) rs1057520366
NM_000063.6(C2):c.1102C>T (p.Arg368Ter) rs866130958
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000066.4(C8B):c.361C>T (p.Arg121Ter) rs150022116
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs) rs761214441
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.732del (p.Cys245fs) rs1558079311
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro) rs1595834751
NM_000070.3(CAPN3):c.1681T>C (p.Tyr561His)
NM_000070.3(CAPN3):c.2380+2T>G rs761935462
NM_000070.3(CAPN3):c.632+4A>G rs1555420507
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.3(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.3(CBS):c.313C>G (p.Leu105Val) rs1601375543
NM_000071.3(CBS):c.430G>C (p.Glu144Gln) rs121964966
NM_000071.3(CBS):c.457G>A (p.Gly153Arg) rs745704046
NM_000071.3(CBS):c.493T>G (p.Cys165Gly) rs1234354755
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.3(CBS):c.862G>A (p.Ala288Thr) rs141502207
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys) rs104894774
NM_000077.5(CDKN2A):c.242C>G (p.Pro81Arg) rs11552823
NM_000077.5(CDKN2A):c.250G>T (p.Asp84Tyr) rs11552822
NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu) rs137852809
NM_000080.4(CHRNE):c.501-10_504dup rs768552387
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met) rs2151096983
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) rs1802495428
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter) rs72651614
NM_000088.4(COL1A1):c.3424-6C>G rs370865189
NM_000090.4(COL3A1):c.1149+5G>A rs587779538
NM_000090.4(COL3A1):c.2445+5G>A rs587779636
NM_000090.4(COL3A1):c.3256-43T>G rs587779667
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.1985G>A (p.Gly662Glu)
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu) rs2072040353
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs) rs776244020
NM_000091.5(COL4A3):c.4664C>T (p.Ala1555Val) rs369575989
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr) rs1962651394
NM_000092.5(COL4A4):c.4901G>C (p.Cys1634Ser)
NM_000092.5(COL4A4):c.5007del (p.Thr1669_Leu1670insTer) rs1308677161
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.4(COL7A1):c.5924_5927del (p.Glu1975fs) rs1064797080
NM_000094.4(COL7A1):c.6101G>C (p.Gly2034Ala) rs1057520530
NM_000094.4(COL7A1):c.6662G>A (p.Gly2221Glu)
NM_000094.4(COL7A1):c.6761G>A (p.Gly2254Glu) rs2107659875
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg) rs1575430201
NM_000094.4(COL7A1):c.8156G>C (p.Gly2719Ala)
NM_000094.4(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000096.4(CP):c.82A>T (p.Ile28Phe) rs386134121
NM_000097.7(CPOX):c.995G>A (p.Arg332Gln) rs781627991
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000110.4(DPYD):c.321+1G>A
NM_000111.3(SLC26A3):c.1181G>T (p.Ser394Ile)
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000117.3(EMD):c.188-6A>G rs2148128297
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) rs770925947
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs) rs886047037
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
NM_000124.4(ERCC6):c.809del (p.Gly270fs) rs923535659
NM_000126.4(ETFA):c.963+1del rs746488455
NM_000128.4(F11):c.1017C>A (p.Cys339Ter) rs745901569
NM_000129.4(F13A1):c.782G>A (p.Arg261His) rs121913071
NM_000130.4(F5):c.5668G>A (p.Glu1890Lys) rs386834228
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del) rs1476178386
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.4(F8):c.766T>A (p.Tyr256Asn) rs1569559955
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile)
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly) rs2038476999
NM_000135.4(FANCA):c.3282C>G (p.Ser1094Arg) rs761244757
NM_000135.4(FANCA):c.3397del (p.His1133fs) rs758917273
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter) rs1185165443
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3627-1G>A rs2062172440
NM_000135.4(FANCA):c.3878del (p.Glu1293fs) rs2062089336
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg) rs878853665
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4261-19_4261-12del rs1567591276
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.8_9del (p.Gln3fs) rs1831183107
NM_000137.4(FAH):c.700T>G (p.Trp234Gly) rs1555441595
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs) rs1555393824
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr) rs1555400371
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) rs1555400278
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr) rs1555398524
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp) rs1555398512
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser) rs869025406
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.4747+5G>C rs193922209
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp) rs78970689
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter) rs363806
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr) rs137854460
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6992G>A (p.Cys2331Tyr) rs397515842
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser) rs113935744
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs) rs1555393538
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs) rs1555393514
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000141.5(FGFR2):c.940-2A>G rs1057519041
NM_000141.5(FGFR2):c.940G>T (p.Ala314Ser) rs1358919643
NM_000143.4(FH):c.1022A>G (p.Asp341Gly) rs1060499640
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1205A>G (p.His402Arg) rs886039366
NM_000143.4(FH):c.127C>T (p.Arg43Ter) rs200496951
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1456_1458del (p.Ala486del) rs2147911262
NM_000143.4(FH):c.1520T>C (p.Leu507Pro) rs1425094515
NM_000143.4(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.4(FH):c.431G>T (p.Gly144Val) rs1057521425
NM_000143.4(FH):c.437G>A (p.Gly146Glu) rs11545654
NM_000143.4(FH):c.473G>T (p.Ser158Ile) rs1060500902
NM_000143.4(FH):c.65T>A (p.Leu22Ter) rs1031919395
NM_000143.4(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000147.5(FUCA1):c.82del (p.Val28fs) rs1639666186
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg) rs2056092151
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val) rs1567706564
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr) rs863224022
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser) rs886042960
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp) rs368244038
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro) rs2039149745
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro) rs2143866454
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro) rs2039192921
NM_000152.5(GAA):c.1431del (p.Ile477fs) rs1598580364
NM_000152.5(GAA):c.1562A>T (p.Glu521Val) rs1455277014
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.830G>A (p.Ser277Asn) rs1886145312
NM_000154.2(GALK1):c.1012dup (p.Val338fs) rs1555747776
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
NM_000155.4(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.152G>A (p.Arg51Gln) rs111033648
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter) rs761115975
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys) rs1569006974
NM_000156.6(GAMT):c.440_441del (p.His147fs) rs1487842051
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs) rs1443859067
NM_000157.4(GBA1):c.1060G>C (p.Asp354His) rs398123526
NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser) rs121908301
NM_000157.4(GBA1):c.816A>C (p.Glu272Asp) rs2148075570
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer) rs1367364158
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter) rs201029706
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu) rs754525424
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys) rs1555751240
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr) rs1568429153
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.397G>A (p.Val133Met) rs746388510
NM_000159.4(GCDH):c.397G>T (p.Val133Leu) rs746388510
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp) rs139851890
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala) rs1468636851
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) rs964724051
NM_000159.4(GCDH):c.91+5G>A rs952356983
NM_000159.4(GCDH):c.926T>G (p.Leu309Trp)
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile) rs1376631949
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu) rs193922264
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg) rs1554334613
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1340_1368del (p.Arg447fs) rs1339598338
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.675C>G (p.Ile225Met) rs772754004
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.883G>A (p.Gly295Ser) rs1554334905
NM_000162.5(GCK):c.98T>C (p.Val33Ala) rs1554335954
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn) rs1602349017
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter) rs1602349143
NM_000166.6(GJB1):c.304_306del (p.Glu102del) rs1555937135
NM_000166.6(GJB1):c.381C>G (p.Ile127Met) rs1602349264
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) rs1602349280
NM_000166.6(GJB1):c.394_395del (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.410del (p.Ile137fs) rs1602349316
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.52A>T (p.Thr18Ser)
NM_000166.6(GJB1):c.532G>A (p.Asp178Asn) rs1555937223
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) rs1555936989
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg) rs782598150
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs) rs869312249
NM_000169.3(GLA):c.436C>T (p.Pro146Ser) rs104894837
NM_000169.3(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla) rs1555985004
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys) rs10975674
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu) rs767200188
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.3(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn) rs1301895668
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu) rs749882600
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser) rs386833559
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg) rs753759723
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu) rs759933539
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000174.5(GP9):c.20T>C (p.Leu7Pro) rs121918038
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1282A>G (p.Lys428Glu) rs761822293
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.1707del (p.Phe569fs) rs1669364351
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter) rs1064795256
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer) rs267608082
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter) rs765411990
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys) rs587779264
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp) rs752212361
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp) rs587779935
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs) rs267608127
NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter) rs1553333707
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala) rs1567961904
NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys) rs121918178
NM_000183.3(HADHB):c.1390-515_1390-499del
NM_000187.4(HGD):c.1081G>A (p.Gly361Arg) rs765219004
NM_000187.4(HGD):c.1120G>C (p.Asp374His) rs981454067
NM_000187.4(HGD):c.447T>A (p.Asn149Lys) rs2107513499
NM_000187.4(HGD):c.455G>C (p.Gly152Ala) rs1553717936
NM_000187.4(HGD):c.559C>G (p.Arg187Gly) rs756255206
NM_000188.3(HK1):c.1969G>A (p.Asp657Asn)
NM_000190.4(HMBS):c.1084del (p.Ter362AsnextTer?) rs1592221672
NM_000190.4(HMBS):c.1A>G (p.Met1Val) rs118204118
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg) rs765361603
NM_000202.8(IDS):c.121_123del (p.Leu41del) rs2124066296
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.1466G>C (p.Gly489Ala) rs104894863
NM_000202.8(IDS):c.241-5A>T rs113993952
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000202.8(IDS):c.884A>T (p.Lys295Ile) rs113993953
NM_000203.5(IDUA):c.1190-10C>A rs1443642527
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu) rs1715210316
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030
NM_000204.5(CFI):c.1253A>T (p.His418Leu) rs121964912
NM_000206.3(IL2RG):c.452T>C (p.Leu151Pro) rs137852511
NM_000207.3(INS):c.100C>G (p.His34Asp) rs121918101
NM_000207.3(INS):c.125T>C (p.Val42Ala) rs886037863
NM_000207.3(INS):c.187+241G>A rs886041083
NM_000207.3(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000207.3(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000208.4(INSR):c.3540G>A (p.Met1180Ile) rs121913157
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000210.4(ITGA6):c.400C>T (p.Arg134Ter) rs866151033
NM_000212.3(ITGB3):c.2231T>C (p.Leu744Pro) rs398122374
NM_000213.5(ITGB4):c.5091del (p.Glu1698fs) rs1157557804
NM_000215.4(JAK3):c.507C>A (p.Asp169Glu) rs147181709
NM_000216.4(ANOS1):c.515G>A (p.Cys172Tyr) rs1930749813
NM_000218.3(KCNQ1):c.1033-2A>G rs794728523
NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu) rs145229963
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs) rs397508090
NM_000218.3(KCNQ1):c.1571T>G (p.Val524Gly) rs199472790
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu) rs1001293702
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000226.4(KRT9):c.470T>C (p.Met157Thr) rs59510579
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.243+3_243+6del rs1553940660
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_000238.4(KCNH2):c.1675C>T (p.Leu559Phe) rs794728374
NM_000238.4(KCNH2):c.1711A>G (p.Ile571Val) rs199472928
NM_000238.4(KCNH2):c.1778T>C (p.Ile593Thr) rs28928904
NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val) rs199472989
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
NM_000238.4(KCNH2):c.299G>A (p.Arg100Gln) rs199472855
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1759+1G>A rs876660996
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) rs104895121
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.4(MLH1):c.1050del (p.Gly351fs) rs587778883
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.4(MLH1):c.1190del (p.Leu397fs) rs63750749
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del) rs587778920
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1769T>G (p.Leu590Ter) rs1553662753
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs) rs63750150
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.1988A>G (p.Glu663Gly) rs63751682
NM_000249.4(MLH1):c.1989+5G>T rs267607878
NM_000249.4(MLH1):c.1990-3C>G rs267607882
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe) rs1064796101
NM_000249.4(MLH1):c.2103+1G>A rs267607888
NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter) rs267607906
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.4(MLH1):c.380+2T>C rs267607742
NM_000249.4(MLH1):c.497T>G (p.Leu166Ter) rs267607755
NM_000249.4(MLH1):c.544A>G (p.Arg182Gly) rs63750211
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000249.4(MLH1):c.588+5G>C rs267607768
NM_000249.4(MLH1):c.588del (p.Lys196fs) rs63751653
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677+3A>T rs267607780
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.678-3T>A rs267607785
NM_000249.4(MLH1):c.67del (p.Glu23fs) rs63750822
NM_000249.4(MLH1):c.694G>A (p.Gly232Arg) rs1553645131
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.986A>C (p.His329Pro) rs63750710
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1661+5G>A rs267607972
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.3(MSH2):c.1807G>C (p.Asp603His) rs63750657
NM_000251.3(MSH2):c.1808A>T (p.Asp603Val) rs267607985
NM_000251.3(MSH2):c.1818_1877del (p.Ser607_Glu626del) rs1553368576
NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly) rs63750508
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly) rs1085308057
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg) rs876660711
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro) rs587779133
NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000251.3(MSH2):c.2228C>A (p.Ser743Ter) rs63751155
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2472_2473del (p.Ser825fs) rs1553370310
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter) rs1230083633
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg) rs63750582
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter) rs63750843
NM_000251.3(MSH2):c.687dup (p.Ala230fs) rs63749897
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter) rs63750488
NM_000252.3(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.3(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) rs1085307929
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.2414G>A (p.Gly805Asp) rs730880566
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3617G>A (p.Gly1206Asp) rs1057517769
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) rs397516053
NM_000256.3(MYBPC3):c.505+1G>A rs730880620
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000257.4(MYH7):c.1048T>C (p.Tyr350His) rs730880863
NM_000257.4(MYH7):c.1210G>A (p.Val404Met) rs730880867
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr) rs397516128
NM_000257.4(MYH7):c.2229G>C (p.Glu743Asp) rs397516139
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val) rs727504558
NM_000257.4(MYH7):c.2792A>G (p.Glu931Gly) rs730880760
NM_000257.4(MYH7):c.2858A>T (p.Asp953Val) rs730880901
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys) rs397516241
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.3(MYL3):c.457del (p.Leu153fs) rs1064793448
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.3470T>A (p.Ile1157Asn)
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.4031T>C (p.Leu1344Pro) rs2135576239
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del) rs1216052074
NM_000264.5(PTCH1):c.202-2A>G rs878853849
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.185T>C (p.Phe62Ser) rs121434261
NM_000268.4(NF2):c.1A>G (p.Met1Val) rs1319282473
NM_000270.4(PNP):c.520G>C (p.Ala174Pro) rs104894454
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser) rs1190383931
NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp) rs1555634739
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.5(NPC1):c.2912-3C>G rs483352892
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val) rs2058666849
NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys) rs374526072
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile) rs28942105
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn) rs58933950
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala) rs121965045
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.268C>G (p.Gln90Glu) rs121965060
NM_000274.4(OAT):c.461G>T (p.Arg154Leu) rs121965039
NM_000275.3(OCA2):c.1275_1277del (p.Met425del) rs752510351
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000276.4(OCRL):c.1498C>G (p.Arg500Gly) rs398123287
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg) rs62508595
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) rs1555203681
NM_000277.3(PAH):c.1198A>C (p.Arg400=) rs199475593
NM_000277.3(PAH):c.1240T>C (p.Tyr414His) rs281865437
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) rs1445893088
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.473G>C (p.Arg158Pro) rs5030843
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.505C>G (p.Arg169Gly) rs281865440
NM_000277.3(PAH):c.561G>C (p.Trp187Cys) rs62507336
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr) rs62508617
NM_000277.3(PAH):c.682G>A (p.Glu228Lys) rs281865444
NM_000277.3(PAH):c.718T>G (p.Phe240Val) rs62507337
NM_000277.3(PAH):c.737C>A (p.Ala246Asp) rs199475610
NM_000277.3(PAH):c.782G>T (p.Arg261Leu) rs5030849
NM_000277.3(PAH):c.800A>G (p.Gln267Arg) rs778154939
NM_000277.3(PAH):c.800A>T (p.Gln267Leu) rs778154939
NM_000277.3(PAH):c.869A>T (p.His290Leu) rs62642919
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000281.4(PCBD1):c.236C>T (p.Thr79Ile) rs121913014
NM_000281.4(PCBD1):c.313T>C (p.Ter105Gln) rs770334825
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro) rs2063192428
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp) rs769896492
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000291.4(PGK1):c.639C>T (p.Gly213=) rs797044505
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr) rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) rs1324893950
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) rs2053339231
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs) rs921982028
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr) rs1403323591
NM_000298.6(PKLR):c.1378G>A (p.Val460Met) rs752034960
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000303.3(PMM2):c.203T>G (p.Phe68Cys) rs373788015
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys) rs104894530
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu) rs1460691341
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000304.4(PMP22):c.179-2A>G rs1597608225
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.298G>A (p.Gly100Arg) rs1597607651
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) rs104894624
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000306.4(POU1F1):c.143-64T>G rs1064796954
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter) rs767712946
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) rs199469469
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000313.4(PROS1):c.701A>G (p.Tyr234Cys) rs387906675
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln) rs1085308040
NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro) rs1554826024
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu) rs1589596143
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.198G>T (p.Lys66Asn) rs2132232321
NM_000314.8(PTEN):c.209+4A>G rs2132232446
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000314.8(PTEN):c.338G>T (p.Ser113Ile) rs587781254
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.397G>A (p.Val133Ile) rs1859977307
NM_000314.8(PTEN):c.39_41del (p.Arg15del) rs1114167625
NM_000314.8(PTEN):c.402_404del (p.Met134del) rs1554898152
NM_000314.8(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.8(PTEN):c.633C>G (p.Cys211Trp) rs121909232
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys) rs1559532562
NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser) rs1575520937
NM_000317.3(PTS):c.108C>G (p.Asn36Lys) rs1449216377
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.164-7T>A rs1555198232
NM_000317.3(PTS):c.26G>A (p.Arg9His) rs1213277062
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys) rs1555198458
NM_000317.3(PTS):c.308T>C (p.Val103Ala) rs1555198459
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.3(RB1):c.2106+2T>C rs1566235515
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.608-2del rs1952624973
NM_000322.5(PRPH2):c.198_202delinsAAGACACA (p.Met67_Gly68delinsArgHisArg) rs63749073
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) rs527236097
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) rs786205579
NM_000322.5(PRPH2):c.556G>A (p.Asp186Asn) rs2152010859
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu) rs61755799
NM_000322.5(PRPH2):c.643A>C (p.Asn215His) rs2152005339
NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro) rs1582764878
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.662C>T (p.Pro221Leu) rs973931180
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser) rs1442844778
NM_000322.5(PRPH2):c.802G>A (p.Val268Ile) rs62645936
NM_000322.5(PRPH2):c.829-4C>G rs1582759785
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) rs61748432
NM_000327.4(ROM1):c.239dup (p.Val81fs) rs1387102485
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1580A>G (p.His527Arg) rs1194458561
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841
NM_000330.4(RS1):c.194A>G (p.Tyr65Cys) rs62645892
NM_000330.4(RS1):c.349C>T (p.Gln117Ter) rs199469696
NM_000330.4(RS1):c.527T>C (p.Phe176Ser)
NM_000330.4(RS1):c.579del (p.Ile194fs) rs199469697
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) rs886043595
NM_000334.4(SCN4A):c.5104GAG[1] (p.Glu1703del) rs1464481652
NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr) rs1555604867
NM_000335.5(SCN5A):c.1003T>C (p.Cys335Arg) rs2125906059
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.5(SCN5A):c.2633G>A (p.Arg878His) rs199473587
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.3628ATC[1] (p.Ile1211del) rs794728920
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000335.5(SCN5A):c.3997A>G (p.Ile1333Val) rs199473226
NM_000335.5(SCN5A):c.4296+6T>C rs794728934
NM_000335.5(SCN5A):c.4856C>A (p.Thr1619Lys) rs199473282
NM_000335.5(SCN5A):c.4927C>T (p.Arg1643Cys) rs199473287
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser) rs199473298
NM_000335.5(SCN5A):c.5218del (p.Asp1740fs) rs1251085820
NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile) rs1553692822
NM_000335.5(SCN5A):c.5723A>G (p.Gln1908Arg) rs199473326
NM_000335.5(SCN5A):c.590A>G (p.Asp197Gly) rs1559370502
NM_000335.5(SCN5A):c.635T>C (p.Leu212Pro) rs199473070
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu) rs368796166
NM_000342.4(SLC4A1):c.1626G>A (p.Lys542=) rs2144611947
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys) rs770569237
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter) rs200206252
NM_000344.4(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000348.4(SRD5A2):c.282-2A>G rs1340425455
NM_000349.3(STAR):c.466-11T>A rs1053284504
NM_000349.3(STAR):c.574C>T (p.Arg192Cys) rs752311616
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1510A>C (p.Asn504His) rs1243753206
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.288C>A (p.Asn96Lys) rs886039297
NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val) rs1291080436
NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg) rs794727220
NM_000350.3(ABCA4):c.2972G>T (p.Gly991Val) rs1297410481
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser) rs1553190579
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) rs1064793011
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp) rs568792949
NM_000350.3(ABCA4):c.4621del (p.Leu1541_Ile1542insTer) rs1557770132
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe) rs201996979
NM_000350.3(ABCA4):c.5312+3A>T rs767451031
NM_000350.3(ABCA4):c.5531G>A (p.Gly1844Asp) rs1659540498
NM_000350.3(ABCA4):c.5981G>A (p.Gly1994Glu)
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro) rs761867791
NM_000350.3(ABCA4):c.746A>G (p.Asp249Gly) rs62646865
NM_000350.3(ABCA4):c.769-784C>T
NM_000352.6(ABCC8):c.1672-20A>G rs931436550
NM_000352.6(ABCC8):c.3753+1G>A rs1554906786
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000359.3(TGM1):c.1082T>C (p.Ile361Thr) rs1057517837
NM_000360.4(TH):c.1010C>T (p.Pro337Leu) rs2133692289
NM_000360.4(TH):c.1052T>C (p.Ile351Thr) rs1554922725
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.724C>T (p.Leu242Phe) rs1457094087
NM_000360.4(TH):c.90+10C>T rs1554924321
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.258del (p.Leu88fs) rs727503507
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del) rs397516351
NM_000363.5(TNNI3):c.548A>C (p.Lys183Thr) rs730881078
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala) rs730881083
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000369.5(TSHR):c.1225G>T (p.Glu409Ter)
NM_000369.5(TSHR):c.1803T>A (p.Tyr601Ter)
NM_000372.5(TYR):c.308G>T (p.Cys103Phe) rs1943252098
NM_000372.5(TYR):c.547G>A (p.Val183Met) rs141930049
NM_000372.5(TYR):c.706T>C (p.Trp236Arg) rs2135242624
NM_000372.5(TYR):c.755T>G (p.Met252Arg) rs1943262190
NM_000374.5(UROD):c.703C>T (p.Pro235Ser) rs141312224
NM_000374.5(UROD):c.995G>A (p.Arg332His) rs121918066
NM_000376.3(VDR):c.239G>A (p.Arg80Gln) rs121909793
NM_000380.4(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000382.3(ALDH3A2):c.1202G>A (p.Gly401Glu) rs1010078101
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) rs72547554
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000384.3(APOB):c.10848del (p.Gly3617fs) rs982371659
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys) rs747335514
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr) rs1576875819
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu) rs201852643
NM_000388.4(CASR):c.2770_2777del (p.Phe924fs)
NM_000390.4(CHM):c.1359C>T (p.Ser453=) rs2148153518
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) rs763961289
NM_000391.4(TPP1):c.679T>C (p.Cys227Arg) rs1855595805
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn) rs72555390
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys) rs1553612220
NM_000404.4(GLB1):c.401G>T (p.Gly134Val) rs773562141
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn) rs1553611055
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala) rs515726219
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr) rs764300456
NM_000416.3(IFNGR1):c.653_655del (p.Glu218del) rs587776858
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) rs780786843
NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter) rs151179377
NM_000419.5(ITGA2B):c.1440-13_1440-1del rs2048585829
NM_000419.5(ITGA2B):c.1440-1G>A rs1598379928
NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) rs80002943
NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs) rs2048523750
NM_000419.5(ITGA2B):c.2992del (p.Trp998fs) rs1598375578
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe) rs143680577
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del) rs1363017615
NM_000431.4(MVK):c.277_283del (p.Glu93fs) rs104895369
NM_000432.4(MYL2):c.3+1G>T rs730880948
NM_000432.4(MYL2):c.3+2T>C rs111373423
NM_000432.4(MYL2):c.483C>A (p.His161Gln) rs886039108
NM_000433.4(NCF2):c.1A>T (p.Met1Leu) rs780810631
NM_000434.4(NEU1):c.160G>A (p.Val54Met) rs1762547799
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter) rs768711214
NM_000435.3(NOTCH3):c.1268A>G (p.Tyr423Cys) rs1555729064
NM_000435.3(NOTCH3):c.1304G>A (p.Cys435Tyr)
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys) rs2046899820
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser)
NM_000435.3(NOTCH3):c.1566C>G (p.Cys522Trp)
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr) rs758997426
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys) rs376046941
NM_000435.3(NOTCH3):c.3064T>A (p.Cys1022Ser) rs2046833026
NM_000435.3(NOTCH3):c.3206A>G (p.Tyr1069Cys) rs1438064001
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys)
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr) rs1568361404
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) rs767540194
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs) rs753104429
NM_000444.6(PHEX):c.1109T>G (p.Met370Arg) rs1930964041
NM_000444.6(PHEX):c.1324G>T (p.Val442Phe) rs777167473
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1768+5G>A rs1057524608
NM_000444.6(PHEX):c.425G>C (p.Cys142Ser) rs1064797048
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000444.6(PHEX):c.850-2A>G rs1064793226
NM_000451.4(SHOX):c.877T>C (p.Ter293Arg) rs137852559
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) rs1568810660
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile) rs1568811454
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del) rs2049569360
NM_000455.5(STK11):c.1042del (p.Asp348fs)
NM_000455.5(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000455.5(STK11):c.418_420del (p.Leu140del) rs1599925362
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000458.4(HNF1B):c.913A>G (p.Lys305Glu) rs2147545316
NM_000459.5(TEK):c.2753G>A (p.Arg918His) rs1554701458
NM_000463.3(UGT1A1):c.1060T>A (p.Trp354Arg) rs1559414817
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser) rs755218546
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter) rs2106076340
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg) rs1559437198
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu) rs121909191
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr) rs1553414563
NM_000478.6(ALPL):c.1132G>C (p.Asp378His) rs1553414611
NM_000478.6(ALPL):c.1228T>C (p.Phe410Leu) rs1644740176
NM_000478.6(ALPL):c.1333T>C (p.Ser445Pro) rs1553415041
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val) rs1229517379
NM_000478.6(ALPL):c.146A>G (p.Asn49Ser)
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser) rs761079751
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.262G>A (p.Glu88Lys) rs1045735640
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup) rs931041761
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp) rs1188506084
NM_000478.6(ALPL):c.472+5G>C rs1558549099
NM_000478.6(ALPL):c.485G>T (p.Gly162Val) rs121918012
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) rs121918004
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg) rs769020799
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000481.4(AMT):c.1033+1G>C rs2107928969
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.515T>C (p.Leu172Pro) rs1366977126
NM_000486.6(AQP2):c.298G>A (p.Gly100Arg) rs1303076207
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) rs199476392
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu) rs74315462
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.418del (p.His140fs) rs745884435
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp) rs199476356
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln) rs121909563
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) rs2066119604
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.4(CFTR):c.-34C>T rs756314710
NM_000492.4(CFTR):c.1117-5A>G rs397508161
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1210-13_1210-8del rs1399483116
NM_000492.4(CFTR):c.1322T>C (p.Leu441Pro) rs397508188
NM_000492.4(CFTR):c.1501A>G (p.Thr501Ala) rs397508221
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.1781T>C (p.Leu594Pro) rs1554389245
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr) rs397508468
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu) rs1554392023
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg) rs36210737
NM_000492.4(CFTR):c.3461A>G (p.Asp1154Gly) rs397508569
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.4(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.4(CFTR):c.4136+5G>A rs1584849005
NM_000492.4(CFTR):c.4243-7del rs878854021
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.598T>A (p.Phe200Ile) rs397508766
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp) rs1554653185
NM_000498.3(CYP11B2):c.542G>A (p.Arg181Gln)
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup) rs1554682769
NM_000507.4(FBP1):c.966del (p.Asp323fs) rs747269745
NM_000512.4(GALNS):c.413T>C (p.Val138Ala) rs118204436
NM_000512.5(GALNS):c.1003-3C>G rs760239741
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del) rs794726887
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro) rs755832705
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly) rs770908172
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro) rs2142993863
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg) rs1267791852
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile) rs398123432
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del) rs1909818289
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser) rs118204440
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg) rs1567509070
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu) rs2143005523
NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp) rs2142966615
NM_000512.5(GALNS):c.205T>G (p.Phe69Val) rs118204445
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu) rs141340188
NM_000512.5(GALNS):c.425A>G (p.His142Arg) rs1288895691
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.491A>G (p.Asn164Ser) rs761725425
NM_000512.5(GALNS):c.498C>G (p.His166Gln) rs1301198698
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser) rs2143002317
NM_000512.5(GALNS):c.715G>T (p.Val239Phe) rs145131011
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys) rs2143001380
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys) rs2143001210
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp) rs61742258
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro) rs2143001162
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser) rs2142999186
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg) rs556060696
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr) rs773933657
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.2T>C (p.Met1Thr) rs1555883949
NM_000516.7(GNAS):c.304G>A (p.Ala102Thr) rs2146178601
NM_000516.7(GNAS):c.349G>A (p.Val117Met) rs1555889031
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn) rs33933481
NM_000517.6(HBA2):c.420del (p.Lys140fs) rs63750520
NM_000517.6(HBA2):c.79G>A (p.Ala27Thr) rs41467944
NM_000518.4(HBB):c.-82C>A rs34500389
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-140C>G rs34999973
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.134C>G (p.Ser45Cys) rs34868397
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.22G>A (p.Glu8Lys) rs34948328
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.315G>C (p.Arg105Ser) rs33914944
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) rs33999427
NM_000518.5(HBB):c.8A>C (p.His3Pro) rs33983205
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly) rs1002712424
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) rs727503961
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del) rs1749130533
NM_000527.4(LDLR):c.-172G>A rs1555800629
NM_000527.4(LDLR):c.1587-?_2140+?del
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.191-?_940+?del
NM_000527.4(LDLR):c.2312-?_2547+?del
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.941-?_1060+?del
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.5(LDLR):c.1010A>G (p.Glu337Gly) rs2077362818
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly) rs753248521
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1098_1109del (p.Gln366_Asn370delinsHis) rs878854024
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1154T>C (p.Leu385Pro) rs879254809
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.5(LDLR):c.115T>C (p.Cys39Arg) rs1555802275
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1186G>C (p.Gly396Arg) rs879254820
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.5(LDLR):c.1255T>C (p.Tyr419His) rs879254847
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.5(LDLR):c.1322T>A (p.Ile441Asn) rs879254862
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met) rs5933
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys) rs879254870
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.139G>C (p.Asp47His) rs778284147
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.5(LDLR):c.1448G>T (p.Trp483Leu) rs875989921
NM_000527.5(LDLR):c.1449G>C (p.Trp483Cys) rs879254907
NM_000527.5(LDLR):c.1449G>T (p.Trp483Cys) rs879254907
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1504G>T (p.Asp502Tyr) rs879254925
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr) rs875989923
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr) rs730882106
NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg) rs879254944
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser) rs769370816
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del) rs1555806019
NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe) rs1131692213
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup) rs879254983
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.169G>A (p.Asp57Asn) rs879254420
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro) rs1249568272
NM_000527.5(LDLR):c.1731G>C (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1732G>T (p.Val578Phe) rs1301458707
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1792A>C (p.Ile598Leu) rs879255023
NM_000527.5(LDLR):c.1793T>A (p.Ile598Asn) rs879255024
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.5(LDLR):c.1845+15C>A rs759867686
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.188G>T (p.Cys63Phe) rs879254427
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.5(LDLR):c.2039T>C (p.Leu680Pro) rs1555807379
NM_000527.5(LDLR):c.2068C>G (p.His690Asp) rs757009067
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr) rs776217028
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.2297C>T (p.Thr766Ile) rs879255173
NM_000527.5(LDLR):c.2311+1941_*1216dup
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2389+5G>A rs879255191
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs) rs879255197
NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup) rs879255201
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2446A>C (p.Lys816Gln) rs879255213
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.248T>C (p.Ile83Thr) rs1555802745
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.5(LDLR):c.250C>T (p.Pro84Ser) rs879254449
NM_000527.5(LDLR):c.251C>G (p.Pro84Arg) rs875989892
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu) rs875989892
NM_000527.5(LDLR):c.2547+5G>A rs879255226
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
NM_000527.5(LDLR):c.259T>C (p.Trp87Arg) rs121908025
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.300C>G (p.Asp100Glu) rs766709484
NM_000527.5(LDLR):c.305A>C (p.Gln102Pro) rs879254462
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.314-3C>T rs879254469
NM_000527.5(LDLR):c.431C>T (p.Pro144Leu) rs912448894
NM_000527.5(LDLR):c.4G>A (p.Gly2Arg) rs5931
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.599T>G (p.Phe200Cys) rs879254586
NM_000527.5(LDLR):c.631C>G (p.His211Asp) rs771917370
NM_000527.5(LDLR):c.640T>C (p.Trp214Arg) rs1600711159
NM_000527.5(LDLR):c.666C>T (p.Cys222=) rs756613387
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.5(LDLR):c.737G>T (p.Gly246Val) rs879254661
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.762G>T (p.Gln254His) rs764526789
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.770G>C (p.Arg257Pro) rs757808215
NM_000527.5(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.5(LDLR):c.805G>A (p.Gly269Ser) rs1131692200
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.5(LDLR):c.911A>T (p.Asp304Val) rs1555803898
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.5(LDLR):c.915G>C (p.Trp305Cys) rs757252110
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile) rs879254742
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000531.6(OTC):c.1009G>T (p.Val337Phe) rs72558487
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del) rs2068592611
NM_000531.6(OTC):c.1028C>A (p.Thr343Lys) rs72558491
NM_000531.6(OTC):c.1033T>C (p.Tyr345His) rs66469337
NM_000531.6(OTC):c.116G>A (p.Gly39Asp) rs1602014500
NM_000531.6(OTC):c.572T>G (p.Leu191Arg) rs72556297
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000531.6(OTC):c.791C>T (p.Thr264Ile) rs67156896
NM_000531.6(OTC):c.793T>C (p.Trp265Arg) rs72558445
NM_000531.6(OTC):c.867G>A (p.Lys289=) rs72558456
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) rs1559998737
NM_000533.5(PLP1):c.409C>T (p.Arg137Trp) rs132630295
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) rs2084801470
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000540.2(RYR1):c.958_960del rs1064794313
NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter)
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.10946dup (p.Cys3650fs)
NM_000540.3(RYR1):c.11126C>T (p.Ala3709Val) rs1555791418
NM_000540.3(RYR1):c.11132C>T (p.Thr3711Met) rs375915752
NM_000540.3(RYR1):c.11159_11162dup (p.Tyr3722fs) rs2145736348
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter) rs1447117024
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys) rs1600989183
NM_000540.3(RYR1):c.11956del (p.Asp3986fs)
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.12526_12527insGCCT (p.Tyr4176fs) rs2145831520
NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser) rs1057518885
NM_000540.3(RYR1):c.1267_1276dup (p.Gly426fs) rs1967149532
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro) rs118192131
NM_000540.3(RYR1):c.13892A>G (p.Tyr4631Cys) rs1568593922
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro) rs118192179
NM_000540.3(RYR1):c.14385G>A (p.Trp4795Ter) rs565173276
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14471T>C (p.Leu4824Pro) rs193922874
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys) rs118192180
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val) rs118192143
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14687G>A (p.Gly4896Glu) rs1599674197
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14843A>G (p.Gln4948Arg) rs1974467952
NM_000540.3(RYR1):c.15017G>A (p.Gly5006Asp) rs1555805797
NM_000540.3(RYR1):c.177del (p.Asp60fs) rs756326114
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter) rs1456276440
NM_000540.3(RYR1):c.2485C>T (p.Arg829Ter) rs778320565
NM_000540.3(RYR1):c.2662C>T (p.Gln888Ter)
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter) rs758925580
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.479A>G (p.Glu160Gly) rs193922752
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.3(RYR1):c.5340dup (p.Cys1781fs) rs1969271215
NM_000540.3(RYR1):c.5487del (p.Val1830fs) rs887506743
NM_000540.3(RYR1):c.5749G>T (p.Glu1917Ter) rs781075511
NM_000540.3(RYR1):c.6469del (p.Glu2157fs)
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln) rs141646642
NM_000540.3(RYR1):c.6710G>A (p.Cys2237Tyr) rs2145586397
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr) rs917523269
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met) rs746971794
NM_000540.3(RYR1):c.7089C>G (p.Cys2363Trp) rs2228071
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys) rs1057518940
NM_000540.3(RYR1):c.7112A>G (p.Glu2371Gly) rs2145600668
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.7396C>T (p.Leu2466Phe) rs767343838
NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly) rs118192178
NM_000540.3(RYR1):c.776G>A (p.Trp259Ter)
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met) rs914804033
NM_000540.3(RYR1):c.8046_8064dup (p.Lys2689delinsLeuTer) rs1970341946
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter) rs1057518773
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys) rs118192125
NM_000540.3(RYR1):c.9001-2A>G rs774119942
NM_000540.3(RYR1):c.9168_9169del (p.Phe3057fs) rs1555787058
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter) rs1171637302
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys) rs1568440962
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp) rs193922762
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.608G>T (p.Arg203Leu) rs587780357
NM_000545.8(HNF1A):c.722G>A (p.Cys241Tyr) rs2135841113
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) rs137853245
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.337T>G (p.Phe113Val) rs587781642
NM_000546.6(TP53):c.377A>G (p.Tyr126Cys) rs1555526335
NM_000546.6(TP53):c.379T>A (p.Ser127Thr) rs1597371694
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_000546.6(TP53):c.388C>T (p.Leu130Phe) rs863224683
NM_000546.6(TP53):c.390CAA[1] (p.Asn131del) rs879254214
NM_000546.6(TP53):c.406C>G (p.Gln136Glu) rs1555526268
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.431A>C (p.Gln144Pro) rs786203071
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.490A>G (p.Lys164Glu) rs879254249
NM_000546.6(TP53):c.559G>C (p.Gly187Arg) rs776167460
NM_000546.6(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.695T>C (p.Ile232Thr) rs587781589
NM_000546.6(TP53):c.698ACTACA[1] (p.Asn235_Tyr236del) rs794727846
NM_000546.6(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_000546.6(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.6(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.6(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_000546.6(TP53):c.755T>C (p.Leu252Pro) rs121912653
NM_000546.6(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.6(TP53):c.766A>C (p.Thr256Pro) rs587781433
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.6(TP53):c.776A>T (p.Asp259Val) rs745425759
NM_000546.6(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.6(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000548.5(TSC2):c.1074G>A (p.Trp358Ter) rs1229561585
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1599+5G>A rs397515100
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) rs45455296
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro) rs397515249
NM_000550.3(TYRP1):c.643C>G (p.His215Asp) rs1160525621
NM_000551.4(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.4(VHL):c.407T>G (p.Phe136Cys) rs5030833
NM_000551.4(VHL):c.463+3A>G rs1131690954
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.614_615del (p.Arg205fs) rs730882030
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000554.6(CRX):c.594_606del (p.Ser199fs) rs1968169319
NM_000558.5(HBA1):c.98T>A (p.Met33Lys) rs281864566
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000612.6(IGF2):c.100G>A (p.Gly34Ser) rs1858937359
NM_000642.3(AGL):c.664+1G>A rs61811105
NM_000685.5(AGTR1):c.251G>A (p.Trp84Ter) rs398122935
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met) rs1553244881
NM_000702.4(ATP1A2):c.1127C>G (p.Thr376Arg) rs121918620
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro) rs755691417
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) rs373713279
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp) rs137852876
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro) rs761996996
NM_000718.4(CACNA1B):c.1994G>A (p.Trp665Ter)
NM_000718.4(CACNA1B):c.2503C>T (p.Arg835Ter)
NM_000719.7(CACNA1C):c.3995G>A (p.Arg1332Gln) rs2153655235
NM_000719.7(CACNA1C):c.737G>A (p.Arg246Gln)
NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp) rs1018084204
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter) rs1650332196
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys) rs374292194
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000787.4(DBH):c.342C>A (p.Asp114Glu) rs77576840
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del) rs983649759
NM_000807.4(GABRA2):c.1003A>C (p.Asn335His) rs1560442716
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg) rs1064794797
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) rs1057519201
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) rs1555368345
NM_000824.5(GLRB):c.596T>G (p.Met199Arg) rs398122856
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe) rs1600982189
NM_000883.4(IMPDH1):c.66_72dup (p.Gln25fs) rs767123748
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs) rs757570230
NM_001001548.3(CD36):c.787_808del (p.Val263fs) rs754365623
NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg) rs1554571225
NM_001002755.4(NFU1):c.298G>C (p.Ala100Pro) rs1279585557
NM_001002755.4(NFU1):c.301A>G (p.Arg101Gly) rs2104792930
NM_001002755.4(NFU1):c.302+3A>G
NM_001002755.4(NFU1):c.548C>G (p.Pro183Arg) rs1156891721
NM_001003787.4(STRADA):c.792T>A (p.Ser264Arg) rs1057519011
NM_001003800.2(BICD2):c.1502G>C (p.Arg501Pro) rs398123032
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001003800.2(BICD2):c.2240G>T (p.Arg747Leu)
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly) rs398123030
NM_001003800.2(BICD2):c.563A>C (p.Asn188Thr) rs398123029
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs) rs762942358
NM_001005242.3(PKP2):c.1379-2047_1379-2043del rs775995156
NM_001005242.3(PKP2):c.2445+1G>A rs1060499891
NM_001005273.3(CHD3):c.2897G>A (p.Arg966Gln) rs1555611692
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001005273.3(CHD3):c.5275C>T (p.Arg1759Trp)
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys) rs121909093
NM_001005361.3(DNM2):c.1664_1671+1del rs1568314339
NM_001005361.3(DNM2):c.1681AAG[1] (p.Lys562del) rs1599620408
NM_001005361.3(DNM2):c.1709T>A (p.Leu570His) rs121909094
NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr) rs1269225724
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr) rs773598203
NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro) rs587783597
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys) rs2073098775
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs) rs1588121150
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys) rs968974699
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His) rs2111857835
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly) rs28940883
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001009925.2(TMEM230):c.233G>T (p.Arg78Leu) rs764786986
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11412-7_11468del
NM_001009944.3(PKD1):c.11860G>C (p.Ala3954Pro)
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter) rs1163930676
NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly) rs864309716
NM_001012759.3(CTU2):c.881C>A (p.Ser294Ter)
NM_001013663.2(PTRHD1):c.365G>A (p.Arg122Gln)
NM_001015878.2(AURKC):c.94_101dup (p.Met35fs) rs749123022
NM_001017980.4(VMA21):c.54-27A>C rs878854352
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met) rs730881141
NM_001024630.4(RUNX2):c.388T>C (p.Trp130Arg) rs2150362649
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg)
NM_001029871.4(RSPO4):c.98dup (p.Asn34fs) rs768138495
NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys) rs2065045729
NM_001029896.2(WDR45):c.235+5G>A rs2065045234
NM_001029896.2(WDR45):c.827+2dup rs1602537729
NM_001031679.3(MSRB3):c.-147T>C rs949229098
NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del) rs1554286093
NM_001031710.3(KLHL7):c.975del (p.Lys325fs) rs794727909
NM_001031725.6(DDX59):c.1600G>A (p.Gly534Arg) rs886037652
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001032221.6(STXBP1):c.122T>C (p.Leu41Pro)
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr) rs1565799723
NM_001032386.2(SUOX):c.1390_1391del (p.Leu464fs) rs1592831898
NM_001032386.2(SUOX):c.794C>A (p.Ala265Asp) rs121908008
NM_001033044.4(GLUL):c.3G>A (p.Met1Ile) rs2101936697
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg) rs281865296
NM_001035.3(RYR2):c.11965A>C (p.Asn3989His) rs794728779
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val) rs1085307524
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe) rs794728813
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly) rs794728706
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001037132.4(NRCAM):c.400T>C (p.Ser134Pro) rs2153741176
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs) rs750744696
NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp) rs756065296
NM_001039958.2(MESP2):c.401_411dup (p.Val138fs) rs1218757887
NM_001040108.2(MLH3):c.3716-1G>A
NM_001040108.2(MLH3):c.885del (p.His296fs) rs1431264077
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile) rs1699477928
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly) rs1057523786
NM_001040142.2(SCN2A):c.3043G>A (p.Asp1015Asn) rs747451714
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040616.3(LINS1):c.304del (p.Arg102fs) rs760477654
NM_001041.4(SI):c.2654_2657del (p.Asp885fs) rs1221816681
NM_001041.4(SI):c.3586_3587del (p.Met1196fs) rs780535026
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp) rs386833731
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu) rs369008702
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg) rs1555611004
NM_001042492.3(NF1):c.1496T>C (p.Leu499Pro) rs1555612288
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro) rs199474737
NM_001042492.3(NF1):c.1720A>C (p.Ser574Arg) rs2066929440
NM_001042492.3(NF1):c.1722-3C>A rs770211384
NM_001042492.3(NF1):c.1885G>C (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2351G>C (p.Trp784Ser) rs2067038047
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001042492.3(NF1):c.2410-3T>G rs1450743199
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.2947_2948del (p.Leu983fs) rs1597716378
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_001042492.3(NF1):c.3113+2T>C rs876658997
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro) rs2067137547
NM_001042492.3(NF1):c.3496+5G>C rs786202564
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001042492.3(NF1):c.3578T>C (p.Phe1193Ser) rs199474780
NM_001042492.3(NF1):c.3656_3658del (p.Gly1219del) rs1555615077
NM_001042492.3(NF1):c.3764A>G (p.Gln1255Arg) rs1555615453
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His) rs1555618518
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu) rs1555618566
NM_001042492.3(NF1):c.4331A>T (p.Lys1444Met) rs199474781
NM_001042492.3(NF1):c.4352A>T (p.Asn1451Ile) rs199474754
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del) rs1555618653
NM_001042492.3(NF1):c.4430+1G>A rs773151680
NM_001042492.3(NF1):c.4498A>G (p.Ser1500Gly) rs1135402862
NM_001042492.3(NF1):c.4578-3del rs1597748663
NM_001042492.3(NF1):c.4578-9T>A rs2067688959
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg) rs1555533305
NM_001042492.3(NF1):c.5013C>A (p.Tyr1671Ter) rs1060500255
NM_001042492.3(NF1):c.5157dup (p.Glu1720fs)
NM_001042492.3(NF1):c.5269-19C>A rs755620051
NM_001042492.3(NF1):c.548T>A (p.Ile183Asn) rs2143707759
NM_001042492.3(NF1):c.5546A>T (p.Asp1849Val) rs1170679293
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr) rs864622647
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys) rs786203824
NM_001042492.3(NF1):c.586+5G>C rs1060500284
NM_001042492.3(NF1):c.587-14T>A rs940581106
NM_001042492.3(NF1):c.59A>C (p.Gln20Pro) rs1598173901
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6705-17G>A rs1064795966
NM_001042492.3(NF1):c.6705-5T>G rs1597844956
NM_001042492.3(NF1):c.6777del (p.Ser2260fs)
NM_001042492.3(NF1):c.6820-10T>G rs1597845883
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg) rs1597848100
NM_001042492.3(NF1):c.7063-3T>G rs1241158120
NM_001042492.3(NF1):c.7063-4A>G rs749805168
NM_001042492.3(NF1):c.7157T>C (p.Phe2386Ser) rs1555535439
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys) rs1567826188
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro) rs1567826623
NM_001042492.3(NF1):c.886A>T (p.Lys296Ter) rs1135402798
NM_001042492.3(NF1):c.888+789A>G rs1597660974
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_001042492.3(NF1):c.987A>G (p.Lys329=) rs2066508210
NM_001042492.3(NF1):c.99A>G (p.Lys33=) rs786203280
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter) rs2146029786
NM_001042681.2(RERE):c.3249dup (p.Ser1084fs) rs745806637
NM_001042702.5(PJVK):c.961_964dup (p.Val322fs)
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.1434+4A>G rs876658323
NM_001048174.2(MUTYH):c.1435-2A>T rs1553123105
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
NM_001048174.2(MUTYH):c.479_492+1del rs766553845
NM_001048174.2(MUTYH):c.55C>T (p.Gln19Ter) rs886046367
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser) rs1057517765
NM_001048174.2(MUTYH):c.752A>G (p.Asn251Ser) rs587778534
NM_001061.7(TBXAS1):c.742C>T (p.Arg248Ter) rs200644306
NM_001069.3(TUBB2A):c.1163T>C (p.Met388Thr) rs1554122911
NM_001069.3(TUBB2A):c.1171C>T (p.Arg391Cys) rs1554122907
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_001069.3(TUBB2A):c.904G>A (p.Ala302Thr)
NM_001070.5(TUBG1):c.776C>T (p.Ser259Leu) rs1555631383
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr) rs757984572
NM_001079668.3(NKX2-1):c.584G>A (p.Arg195Gln) rs1555349228
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu) rs1057519223
NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs) rs886042778
NM_001079866.2(BCS1L):c.399del (p.Glu133fs) rs751484879
NM_001080.3(ALDH5A1):c.1324C>T (p.Pro442Ser) rs750638943
NM_001080.3(ALDH5A1):c.1343+1del rs1561879386
NM_001080.3(ALDH5A1):c.1529C>T (p.Ser510Phe) rs578023593
NM_001080414.4(CCDC88C):c.5695del (p.Leu1899fs) rs1396400378
NM_001080508.3(TBX18):c.1285C>T (p.Arg429Ter) rs886041719
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln) rs2125194268
NM_001080517.3(SETD5):c.941A>G (p.Asn314Ser) rs2041315307
NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys) rs1556036052
NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp) rs1603255389
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn) rs1553956958
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser) rs1599570613
NM_001083962.2(TCF4):c.1817C>T (p.Thr606Ile) rs2144403104
NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe) rs1022923684
NM_001089.3(ABCA3):c.537G>C (p.Trp179Cys)
NM_001089.3(ABCA3):c.629G>T (p.Gly210Val)
NM_001097642.3(GJB1):c.-16-513T>C rs1003232768
NM_001097642.3(GJB1):c.-16-524C>G rs1060501001
NM_001098.3(ACO2):c.1894G>A (p.Val632Met) rs1601933371
NM_001098.3(ACO2):c.1981G>A (p.Gly661Arg) rs752034900
NM_001098.3(ACO2):c.250C>T (p.Arg84Ter) rs387907389
NM_001098.3(ACO2):c.487G>T (p.Val163Leu) rs759920667
NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer) rs1561480377
NM_001099922.3(ALG13):c.2458-15_2486del rs770762084
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys) rs1571893814
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001100913.3(PACS2):c.631G>A (p.Glu211Lys) rs1595718024
NM_001101.5(ACTB):c.490C>T (p.Pro164Ser) rs1784814856
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001102564.3(IFT43):c.296-5686_296-5685del
NM_001103.4(ACTN2):c.1516A>G (p.Arg506Gly) rs794728967
NM_001103.4(ACTN2):c.2578C>T (p.Gln860Ter) rs763078071
NM_001103.4(ACTN2):c.332G>T (p.Gly111Val) rs786204949
NM_001103.4(ACTN2):c.392T>C (p.Leu131Pro) rs1572114611
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1066_1231delinsGT (p.Arg356fs) rs1557135402
NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg) rs61752365
NM_001110792.2(MECP2):c.1099AGC[2] (p.Ser369del) rs267608564
NM_001110792.2(MECP2):c.1132_1237del (p.His378fs) rs1557135317
NM_001110792.2(MECP2):c.1133_*13del (p.His378_Ter499delinsXaa) rs1557134819
NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del) rs1557134858
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) rs1557134946
NM_001110792.2(MECP2):c.1216_1217insT (p.Glu406fs) rs786205021
NM_001110792.2(MECP2):c.1444_1447delinsTG (p.Asn482fs) rs786205023
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) rs267608640
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) rs786205040
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu) rs61754457
NM_001110792.2(MECP2):c.400G>A (p.Val134Met) rs267608455
NM_001110792.2(MECP2):c.408G>C (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.413+2T>G rs267608458
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) rs267608387
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.434G>A (p.Arg145His) rs61748389
NM_001110792.2(MECP2):c.434G>T (p.Arg145Leu) rs61748389
NM_001110792.2(MECP2):c.437C>T (p.Ser146Phe) rs61748390
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys) rs61748395
NM_001110792.2(MECP2):c.48_55dup (p.Glu19fs) rs786205043
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) rs61748407
NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu) rs267608484
NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala) rs61748411
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) rs61751373
NM_001110792.2(MECP2):c.941C>A (p.Pro314His) rs61749723
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.947A>G (p.Lys316Arg) rs267608550
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro) rs2131889364
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001114753.3(ENG):c.8G>A (p.Arg3His) rs1588604597
NM_001122681.2(SH3BP2):c.1259G>A (p.Gly420Glu) rs28938171
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter) rs755680047
NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn) rs757490496
NM_001126128.2(PROK2):c.297dup (p.Gly100fs) rs768413190
NM_001127178.3(PIGG):c.2088G>C (p.Glu696Asp) rs1203666288
NM_001127208.3(TET2):c.2746C>T (p.Gln916Ter)
NM_001127208.3(TET2):c.5618T>C (p.Ile1873Thr)
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln) rs1568471977
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg) rs1168625480
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) rs1382225004
NM_001127392.3(MYRF):c.789del (p.Ser264fs) rs769274302
NM_001127644.2(GABRA1):c.146T>A (p.Leu49His)
NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu) rs1064796448
NM_001127644.2(GABRA1):c.289T>A (p.Trp97Arg)
NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly) rs1754197638
NM_001127644.2(GABRA1):c.334C>T (p.Arg112Trp) rs1754199170
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.454G>A (p.Gly152Ser) rs2113381632
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.809T>G (p.Val270Gly) rs1755063375
NM_001127644.2(GABRA1):c.881C>G (p.Thr294Arg) rs796052495
NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu) rs1755333582
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) rs863225436
NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu) rs869320716
NM_001129820.2(SLFN14):c.657A>T (p.Lys219Asn) rs869320715
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001130144.3(LTBP3):c.2087C>G (p.Ser696Cys) rs1554974135
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs) rs781020381
NM_001130823.3(DNMT1):c.1520C>T (p.Pro507Leu) rs1599366542
NM_001130823.3(DNMT1):c.1531T>C (p.Tyr511His) rs199473692
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val) rs397509392
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser) rs753279446
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs) rs1564844428
NM_001134363.3(RBM20):c.1913C>G (p.Pro638Arg) rs267607003
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter) rs1306036000
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys) rs1572996700
NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu) rs1363544084
NM_001135651.3(EIF2AK2):c.325G>T (p.Ala109Ser) rs1675334390
NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe) rs1573029592
NM_001135651.3(EIF2AK2):c.95A>C (p.Asn32Thr) rs1675604381
NM_001135651.3(EIF2AK2):c.95A>G (p.Asn32Ser) rs1675604381
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001139.3(ALOX12B):c.1015C>G (p.Pro339Ala) rs1977158385
NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met) rs962267153
NM_001142569.3(INAVA):c.743A>T (p.Tyr248Phe) rs41313912
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met) rs1555663997
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001145073.3(USP27X):c.1211G>A (p.Ser404Asn)
NM_001145073.3(USP27X):c.431A>G (p.Tyr144Cys)
NM_001145252.3(CFP):c.298C>T (p.Arg100Trp) rs132630259
NM_001145784.2(BORCS8):c.85T>C (p.Ser29Pro)
NM_001145809.2(MYH14):c.3153_3160del (p.Asn1052fs)
NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu) rs119103281
NM_001148.6(ANK2):c.1937C>T (p.Ser646Phe) rs786205724
NM_001148.6(ANK2):c.7531C>T (p.Arg2511Ter) rs2154024936
NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter) rs267606702
NM_001160372.4(TRAPPC9):c.3225C>A (p.Tyr1075Ter) rs58740567
NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu) rs115596308
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter) rs1740799305
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter) rs1559940778
NM_001164508.2(NEB):c.20158-6A>G rs1553715636
NM_001164508.2(NEB):c.2211+5G>A rs797045736
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs) rs761694639
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter) rs779173742
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs) rs756384471
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs) rs1553568357
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys) rs76344857
NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro) rs1698022280
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.4(SCN1A):c.1092C>A (p.Ser364Arg) rs766332635
NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val) rs794726826
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu) rs794726766
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=) rs796052994
NM_001165963.4(SCN1A):c.4285-4A>G rs796053007
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs) rs794726825
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro) rs796053029
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr) rs886039464
NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu) rs1599305317
NM_001166114.2(PNPLA6):c.3517C>T (p.Arg1173Trp) rs766389806
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001171038.2(ASMT):c.562+2T>C
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys) rs886039576
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001177316.2(SLC34A3):c.944del (p.Gly315fs) rs1473689787
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs) rs1296037862
NM_001182.5(ALDH7A1):c.191_192dup (p.Val65fs) rs796052270
NM_001182.5(ALDH7A1):c.244del (p.Gln82fs) rs1317880376
NM_001183.6(ATP6AP1):c.932T>A (p.Leu311Gln) rs1603384499
NM_001184.4(ATR):c.1358_1359del (p.His453fs) rs886044646
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His) rs796052797
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001194.4(HCN2):c.1130T>A (p.Leu377His) rs1983378176
NM_001194.4(HCN2):c.1432_1434del (p.Glu478del) rs2144522815
NM_001194.4(HCN2):c.970C>T (p.Arg324Cys) rs2144516632
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del) rs397516636
NM_001195263.2(PDZD7):c.2850del (p.Ser953fs) rs1025144704
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001195553.2(DCX):c.364G>A (p.Gly122Arg) rs587783544
NM_001195553.2(DCX):c.557G>A (p.Arg186His) rs587783563
NM_001195553.2(DCX):c.586C>A (p.Arg196Ser) rs587783568
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg) rs587783577
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001199563.2(POPDC1):c.457C>T (p.Gln153Ter) rs1562137622
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001204.7(BMPR2):c.1019T>C (p.Leu340Pro) rs1085307289
NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) rs1060502583
NM_001204.7(BMPR2):c.319T>C (p.Ser107Pro) rs1085307207
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001205293.3(CACNA1E):c.5267+5G>A rs2102796431
NM_001242882.2(NAXD):c.46G>A (p.Val16Ile) rs1886017898
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile) rs387907120
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001250.6(CD40):c.256+2T>C rs774195387
NM_001256007.3(PNPLA8):c.2275_2276del (p.Leu759fs) rs774184465
NM_001256012.3(MYH10):c.4884+1G>A rs2151813002
NM_001257096.2(PAX1):c.158C>A (p.Ser53Ter)
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp) rs1949512456
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.105428del (p.Gly35143fs) rs886042825
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs) rs752101551
NM_001267550.2(TTN):c.38660del (p.Lys12887fs) rs761617432
NM_001267550.2(TTN):c.51437-1G>C rs2055916646
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.67058-1G>C rs756715989
NM_001267550.2(TTN):c.73568del (p.Pro24523fs) rs1559415567
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.96310+2T>G rs794729303
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
NM_001267550.2(TTN):c.97492+1G>A rs727505319
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001273.5(CHD4):c.3326T>C (p.Ile1109Thr) rs2136213384
NM_001276270.2(MBD4):c.615dup (p.Asn206Ter)
NM_001276270.2(MBD4):c.939dup (p.Glu314fs) rs558765093
NM_001276309.3(NOL3):c.61G>C (p.Glu21Gln) rs397514600
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) rs45586240
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) rs121964860
NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn) rs121964861
NM_001276345.2(TNNT2):c.844C>T (p.Gln282Ter) rs796925245
NM_001276345.2(TNNT2):c.852-2A>C rs111692981
NM_001277062.2(MFF):c.856T>C (p.Trp286Arg) rs2076297587
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001277115.2(DNAH11):c.8578G>A (p.Gly2860Ser)
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs) rs756807665
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter) rs398123059
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn) rs1554215979
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)
NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs) rs1279657093
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys) rs1644918844
NM_001287.6(CLCN7):c.937G>A (p.Glu313Lys) rs2142379352
NM_001288705.3(CSF1R):c.2442+2dup rs2113779247
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
NM_001298.3(CNGA3):c.-37-1G>C rs1553447991
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.1609del (p.Gln537fs) rs1293852552
NM_001298.3(CNGA3):c.1712T>C (p.Ile571Thr) rs750456621
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp) rs368448387
NM_001312909.2(FAM111A):c.1531T>C (p.Tyr511His) rs587777012
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_001312909.2(FAM111A):c.364C>T (p.Gln122Ter)
NM_001319074.4(RAX2):c.344C>A (p.Ser115Ter) rs398124431
NM_001320.7(CSNK2B):c.257G>A (p.Arg86His)
NM_001320.7(CSNK2B):c.467G>A (p.Gly156Asp) rs2151188873
NM_001321075.3(DLG4):c.1478+4_1478+19del rs2142830394
NM_001321120.2(TBX4):c.1115del (p.Pro372fs) rs754897911
NM_001321120.2(TBX4):c.702+1G>A rs1555883342
NM_001321967.2(ATAD1):c.162G>C (p.Gln54His) rs1554884979
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs) rs1602300837
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys) rs1555230905
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.5280G>A (p.Met1760Ile) rs1555231013
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs) rs769566928
NM_001348716.2(KDM6B):c.445C>T (p.Arg149Ter) rs1419917079
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly) rs878854424
NM_001348800.3(ZBTB20):c.1931C>T (p.Thr644Ile)
NM_001349232.2(ATG7):c.1535T>C (p.Leu512Pro) rs2152811539
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001352027.3(PHF21A):c.1704_1705del (p.Lys569fs) rs2135027632
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_001353108.3(CEP63):c.989_992del (p.Asp330fs) rs797045459
NM_001353214.3(DYM):c.259G>A (p.Glu87Lys) rs120074164
NM_001353345.2(SETD1B):c.5392C>T (p.Arg1798Cys) rs2137589027
NM_001354604.2(MITF):c.967del (p.Arg323fs) rs2066400236
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys) rs1064795323
NM_001356.5(DDX3X):c.1676T>A (p.Leu559His) rs1064794993
NM_001356.5(DDX3X):c.1769G>A (p.Ser590Asn)
NM_001357.5(DHX9):c.3488A>G (p.Lys1163Arg)
NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro) rs1555145619
NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val) rs1555145614
NM_001360.3(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter) rs1555145550
NM_001360.3(DHCR7):c.356A>T (p.His119Leu) rs28938174
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.3(DHCR7):c.704T>C (p.Phe235Ser) rs1555146061
NM_001360.3(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001360.3(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu) rs1557229683
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001363118.2(SLC52A2):c.1255G>A (p.Gly419Ser) rs397514658
NM_001363711.2(DUOX2):c.1717C>T (p.Gln573Ter)
NM_001363711.2(DUOX2):c.2997del (p.Phe999fs)
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365276.2(TNXB):c.10004dup (p.Asn3335fs) rs779059111
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) rs121908910
NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr) rs80356470
NM_001366385.1(CARD14):c.467T>C (p.Leu156Pro) rs387907240
NM_001367624.2(ZNF469):c.10332del (p.Arg3445fs) rs764470052
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys) rs727504064
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His) rs1554085372
NM_001369.3(DNAH5):c.5582A>C (p.Gln1861Pro) rs780320440
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys)
NM_001369268.1(ACAN):c.17G>A (p.Trp6Ter)
NM_001369268.1(ACAN):c.7512T>G (p.Tyr2504Ter) rs1567195445
NM_001370259.2(MEN1):c.1050-3C>G
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) rs794728620
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter) rs118203972
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr) rs63749871
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg) rs63749871
NM_001370298.3(FGD4):c.2039_2040del (p.Glu680fs) rs1565921326
NM_001370298.3(FGD4):c.2173-2A>G rs281865065
NM_001370595.2(COA8):c.-10dup rs559856575
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.827T>G (p.Val276Gly) rs397514391
NM_001371279.1(REEP1):c.478del (p.Arg160fs) rs1675100502
NM_001371333.1(DIABLO):c.377C>T (p.Ser126Leu) rs387906893
NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_001371596.2(MFSD8):c.616C>T (p.Gln206Ter) rs1209722075
NM_001371596.2(MFSD8):c.929G>A (p.Gly310Asp) rs118203975
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001372.4(DNAH9):c.12406C>T (p.Arg4136Ter)
NM_001372.4(DNAH9):c.308dup (p.Leu104fs) rs769795916
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)
NM_001374828.1(ARID1B):c.1293_1311dup (p.Gly438fs) rs943407609
NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp) rs1057519092
NM_001375405.1(CEP120):c.2917C>T (p.Arg973Ter)
NM_001375524.1(TRRAP):c.3127G>A (p.Ala1043Thr) rs1562945106
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.1793G>T (p.Arg598Leu) rs879254085
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln) rs797044901
NM_001376.5(DYNC1H1):c.5884C>T (p.Arg1962Cys) rs879253881
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys) rs1555410941
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376571.1(MADD):c.2309dup (p.Asn770fs)
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val) rs963717773
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377295.2(GNAT2):c.461+24G>A rs397515384
NM_001377299.1(NDUFS2):c.683G>A (p.Arg228Gln) rs121434427
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del) rs606231461
NM_001378477.3(NYX):c.920A>G (p.Asn307Ser) rs62637035
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.4533G>C (p.Trp1511Cys) rs777158229
NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr) rs1554644827
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp) rs1758081729
NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu) rs1064794019
NM_001379291.1(BRD4):c.883A>C (p.Thr295Pro)
NM_001379403.1(WDR26):c.823-10A>G rs1674395504
NM_001383.6(DPH1):c.749+39G>A
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_001384900.1(SEMA3D):c.1738C>T (p.Pro580Ser) rs1057519374
NM_001384910.1(GUCA1A):c.265G>A (p.Glu89Lys) rs1768015203
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777
NM_001386125.1(OBSCN):c.10616del (p.Gly3539fs)
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro) rs1241995212
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp) rs1288629241
NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser) rs1478088223
NM_001395891.1(CLASP1):c.196-607G>A rs180755563
NM_001397406.1(FDX2):c.1A>T (p.Met1Leu) rs587777600
NM_001399.5(EDA):c.760C>T (p.Gln254Ter)
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001414.4(EIF2B1):c.770_771del (p.Leu257fs) rs746435041
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg) rs1057515578
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001451.3(FOXF1):c.881_902dup (p.Gly302fs)
NM_001453.3(FOXC1):c.-429C>G rs77888940
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter) rs1420159591
NM_001458.5(FLNC):c.3193-2A>G rs749889670
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001478.5(B4GALNT1):c.1556G>C (p.Arg519Pro) rs751593187
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001563.4(IMPG1):c.1838T>C (p.Leu613Pro) rs1781948884
NM_001572.5(IRF7):c.1228T>G (p.Phe410Val) rs786205223
NM_001605.3(AARS1):c.211A>T (p.Asn71Tyr) rs387906792
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001606.5(ABCA2):c.4903del (p.Val1635fs) rs1588511352
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro) rs387906672
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) rs797044730
NM_001614.5(ACTG1):c.548G>A (p.Arg183Gln) rs781945750
NM_001615.4(ACTG2):c.584C>T (p.Thr195Ile) rs1057520694
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) rs1553396458
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp) rs727505222
NM_001711.6(BGN):c.908A>C (p.Gln303Pro) rs886037824
NM_001737.5(C9):c.1465dup (p.Leu489fs) rs765507796
NM_001759.4(CCND2):c.842C>G (p.Pro281Arg) rs587777622
NM_001792.5(CDH2):c.1219G>A (p.Asp407Asn) rs568089577
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) rs199984052
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_001830.4(CLCN4):c.1389+5G>A rs879255590
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) rs879255584
NM_001830.4(CLCN4):c.823G>C (p.Val275Leu)
NM_001844.5(COL2A1):c.1023+4A>G rs1939770285
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val) rs1939615464
NM_001844.5(COL2A1):c.342+5G>A rs2136629166
NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp) rs2136516779
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070
NM_001846.4(COL4A2):c.1291C>T (p.Arg431Ter)
NM_001846.4(COL4A2):c.3126del (p.Gly1043fs) rs1268038830
NM_001846.4(COL4A2):c.360+2T>C rs2139454253
NM_001846.4(COL4A2):c.883G>T (p.Glu295Ter)
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1485del (p.Gly496fs) rs761748258
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg) rs1672165764
NM_001875.5(CPS1):c.2407C>A (p.Arg803Ser) rs201716417
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys) rs201716417
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp) rs772782772
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro) rs398123653
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001887.4(CRYBB1):c.757T>C (p.Ter253Arg) rs1114167432
NM_001903.5(CTNNA1):c.99del (p.Thr34fs)
NM_001904.4(CTNNB1):c.160G>T (p.Glu54Ter) rs2078133150
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala) rs1553229654
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter) rs749366506
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter) rs1553228626
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del) rs1217050849
NM_001918.5(DBT):c.788T>C (p.Met263Thr) rs1553230703
NM_001918.5(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_001939.3(DRP2):c.1006C>T (p.Gln336Ter)
NM_001939.3(DRP2):c.973C>T (p.Gln325Ter) rs1556419606
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer) rs397516703
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter) rs776078563
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) rs794728093
NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile) rs587776978
NM_001953.5(TYMP):c.1340_1361del (p.Leu447fs) rs772501604
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp) rs1568994522
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu) rs137852648
NM_002063.4(GLRA2):c.887C>T (p.Thr296Met) rs1601761445
NM_002070.4(GNAI2):c.535C>T (p.Arg179Cys) rs137853226
NM_002074.5(GNB1):c.154C>T (p.Arg52Trp) rs2100858748
NM_002074.5(GNB1):c.343G>A (p.Gly115Ser) rs1646670170
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002085.5(GPX4):c.502-1del rs1555716575
NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg) rs2102737050
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
NM_002107.7(H3-3A):c.68C>T (p.Thr23Ile)
NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val) rs863224878
NM_002181.4(IHH):c.472C>T (p.Arg158Cys)
NM_002181.4(IHH):c.531G>A (p.Trp177Ter)
NM_002187.3(IL12B):c.320dup (p.Glu108fs) rs587776807
NM_002224.4(ITPR3):c.7570C>T (p.Arg2524Cys)
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys) rs755693286
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.995G>T (p.Arg332Leu) rs745464766
NM_002226.5(JAG2):c.221G>C (p.Cys74Ser) rs2141000225
NM_002226.5(JAG2):c.490G>A (p.Glu164Lys) rs1888570315
NM_002226.5(JAG2):c.728C>A (p.Ala243Asp) rs867073471
NM_002233.4(KCNA4):c.266G>A (p.Arg89Gln) rs779101828
NM_002294.3(LAMP2):c.1093+2440_1093+2441del rs2147277541
NM_002294.3(LAMP2):c.928+3A>G rs2147279469
NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_002317.7(LOX):c.124_130dup (p.Gln44fs) rs2152591662
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) rs786205153
NM_002335.4(LRP5):c.2254C>T (p.Arg752Trp) rs121908674
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
NM_002397.5(MEF2C):c.1A>G (p.Met1Val) rs1432291994
NM_002397.5(MEF2C):c.3G>C (p.Met1Ile) rs1554150607
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_002427.4(MMP13):c.287_293del (p.Cys96fs) rs886042854
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002437.5(MPV17):c.70G>T (p.Gly24Trp) rs121909725
NM_002465.4(MYBPC1):c.2566T>C (p.Tyr856His) rs387906658
NM_002468.5(MYD88):c.-24_-6del rs746651350
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly) rs121913622
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro) rs1567553806
NM_002470.4(MYH3):c.4522C>T (p.Gln1508Ter) rs779530750
NM_002473.6(MYH9):c.122T>C (p.Phe41Ser) rs1057520107
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter) rs1563516254
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002488.5(NDUFA2):c.225del (p.Asn76fs) rs863224084
NM_002500.5(NEUROD1):c.616dup (p.His206fs) rs387906384
NM_002524.5(NRAS):c.203G>T (p.Arg68Ile)
NM_002529.4(NTRK1):c.1754del (p.Leu585fs) rs1571699945
NM_002576.5(PAK1):c.379G>A (p.Val127Met) rs2137081902
NM_002585.4(PBX1):c.700C>T (p.Arg234Trp) rs1218945005
NM_002617.4(PEX10):c.52G>C (p.Asp18His) rs61750432
NM_002617.4(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002633.3(PGM1):c.184G>C (p.Asp62His) rs587777403
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys) rs1569180071
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002691.4(POLD1):c.1816C>A (p.Leu606Met) rs1568630225
NM_002693.3(POLG):c.1874C>T (p.Pro625Leu) rs1064794214
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.3(POLG):c.2564T>C (p.Val855Ala) rs963553787
NM_002693.3(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.3(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3294T>G (p.Asn1098Lys) rs374224714
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr) rs730880503
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly) rs727503996
NM_002764.4(PRPS1):c.286C>T (p.Arg96Trp)
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002772.3(TMPRSS15):c.2042dup (p.Asn682fs) rs1284864421
NM_002804.5(PSMC3):c.782T>C (p.Ile261Thr)
NM_002834.5(PTPN11):c.10C>G (p.Arg4Gly) rs886041517
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr) rs397507510
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.661A>G (p.Ile221Val) rs397516806
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_002878.4(RAD51D):c.215del (p.Tyr72fs) rs2142474090
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_002878.4(RAD51D):c.904-2A>T rs1403784434
NM_002880.4(RAF1):c.775T>G (p.Ser259Ala) rs3730271
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002887.4(RARS1):c.825dup (p.Ser276fs) rs780133021
NM_002905.5(RDH5):c.218C>T (p.Ser73Phe) rs62638185
NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser) rs2081940708
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) rs1597229404
NM_002968.3(SALL1):c.949C>T (p.Pro317Ser) rs864621971
NM_002979.5(SCP2):c.191_192del (p.Tyr64fs) rs2150121906
NM_003024.3(ITSN1):c.2894dup (p.Tyr965Ter) rs2148264796
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met) rs1064794981
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu) rs1574892457
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala) rs1057517665
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg) rs756863825
NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe) rs759925126
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu) rs1437174685
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val) rs72552728
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu) rs538372785
NM_003070.5(SMARCA2):c.1541A>G (p.Tyr514Cys)
NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys) rs1343138502
NM_003070.5(SMARCA2):c.3439G>A (p.Asp1147Asn) rs886041299
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.1561C>T (p.Arg521Trp) rs2145942104
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp) rs1568963596
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
NM_003108.4(SOX11):c.151C>T (p.Arg51Trp) rs2103276324
NM_003108.4(SOX11):c.175T>C (p.Trp59Arg) rs2103276343
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys) rs587777479
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala) rs2058357964
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn) rs745444834
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met) rs778387199
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro) rs373143136
NM_003119.4(SPG7):c.759-11_759-8del rs758385553
NM_003119.4(SPG7):c.861+6T>C rs765178985
NM_003172.4(SURF1):c.324-11T>G rs375398247
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr) rs587753385
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) rs782161777
NM_003179.3(SYP):c.397C>T (p.Arg133Ter) rs1557103139
NM_003193.5(TBCE):c.841C>T (p.Gln281Ter) rs752790319
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_003239.5(TGFB3):c.171del (p.Glu58fs) rs1594792466
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) rs104893813
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr) rs1563929039
NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg) rs1761067394
NM_003322.6(TULP1):c.1246C>T (p.Arg416Cys) rs200769197
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile) rs80356545
NM_003366.4(UQCRC2):c.757_766+3del rs745553184
NM_003380.5(VIM):c.623A>G (p.Gln208Arg) rs1085307141
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003392.7(WNT5A):c.206G>A (p.Cys69Tyr) rs786204837
NM_003470.3(USP7):c.383+1G>C rs1567227059
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs) rs960577385
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp) rs2065162324
NM_003504.5(CDC45):c.333C>T (p.Asn111=) rs748749078
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys) rs950721550
NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn) rs778225931
NM_003560.4(PLA2G6):c.1797C>G (p.Phe599Leu) rs1555979298
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) rs587784346
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
NM_003560.4(PLA2G6):c.671T>C (p.Leu224Pro) rs2145803751
NM_003611.3(OFD1):c.230T>C (p.Leu77Ser) rs1555900746
NM_003660.4(PPFIA3):c.1243C>T (p.Arg415Trp)
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_003665.4(FCN3):c.349del (p.Leu117fs) rs532781899
NM_003676.4(DEGS1):c.395A>G (p.His132Arg) rs1558209997
NM_003709.4(KLF7):c.410C>T (p.Thr137Met) rs1276619385
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_003721.4(RFXANK):c.713-1G>A rs2060720733
NM_003730.6(RNASET2):c.233C>A (p.Ser78Ter) rs1434250650
NM_003738.5(PTCH2):c.1296_1305delinsCACCA (p.Val433fs) rs1573648653
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del) rs1553468235
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
NM_003742.4(ABCB11):c.1622T>C (p.Ile541Thr) rs753994013
NM_003742.4(ABCB11):c.1907A>T (p.Glu636Val)
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His) rs376255350
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly) rs761200259
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu) rs397514733
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn) rs1554763777
NM_003849.4(SUCLG1):c.152_153del (p.Tyr51fs) rs1308442327
NM_003850.3(SUCLA2):c.751G>A (p.Asp251Asn) rs397515462
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val) rs1555256440
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr) rs1197456861
NM_003863.4(DPM2):c.37del (p.Leu13fs) rs1349389319
NM_003865.3(HESX1):c.511_512del (p.Gln171fs) rs752434998
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214
NM_003906.5(MCM3AP):c.5423del (p.Gly1808fs) rs747306849
NM_003907.3(EIF2B5):c.1340C>T (p.Ser447Leu) rs113994080
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.6(GJB2):c.139G>A (p.Glu47Lys)
NM_004004.6(GJB2):c.175G>A (p.Gly59Ser) rs104894410
NM_004004.6(GJB2):c.440A>G (p.Glu147Gly) rs1959057808
NM_004006.3(DMD):c.264+5G>A rs398123902
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser) rs1557303381
NM_004006.3(DMD):c.649+5G>T rs1557047808
NM_004006.3(DMD):c.650-39498A>G rs1556980528
NM_004006.3(DMD):c.93+5590T>A rs1557211730
NM_004006.3(DMD):c.9649+5G>C rs1602695527
NM_004044.7(ATIC):c.406G>A (p.Ala136Thr) rs1575116846
NM_004046.6(ATP5F1A):c.483+2T>C rs1555695396
NM_004046.6(ATP5F1A):c.545G>A (p.Arg182Gln) rs2144189607
NM_004048.4(B2M):c.31G>C (p.Ala11Pro) rs104894481
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004082.5(DCTN1):c.200G>A (p.Gly67Asp) rs886039228
NM_004082.5(DCTN1):c.211G>A (p.Gly71Arg) rs72466485
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu) rs67586389
NM_004082.5(DCTN1):c.221A>C (p.Gln74Pro) rs72466487
NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs) rs777218310
NM_004168.4(SDHA):c.1346C>T (p.Ala449Val) rs201139275
NM_004177.5(STX3):c.589C>T (p.Arg197Ter) rs746797808
NM_004183.4(BEST1):c.1403C>T (p.Pro468Leu) rs747043918
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg) rs1565388478
NM_004183.4(BEST1):c.620T>A (p.Leu207His) rs1591289408
NM_004183.4(BEST1):c.703G>T (p.Val235Leu) rs281865245
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) rs727503824
NM_004184.4(WARS1):c.1342C>T (p.Arg448Trp)
NM_004184.4(WARS1):c.397C>T (p.Arg133Cys)
NM_004184.4(WARS1):c.770A>G (p.His257Arg) rs770003315
NM_004184.4(WARS1):c.997G>A (p.Ala333Thr)
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val) rs281864468
NM_004239.4(TRIP11):c.1938_1941del (p.Arg647fs) rs773312108
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_004268.5(MED17):c.98dup (p.Leu34fs) rs745733410
NM_004273.5(CHST3):c.422C>T (p.Thr141Met) rs267606735
NM_004273.5(CHST3):c.512_513del (p.Thr171fs) rs1564532120
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) rs28937593
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004311.4(ARL3):c.269A>G (p.Tyr90Cys) rs1564730440
NM_004311.4(ARL3):c.446G>A (p.Arg149His) rs770782663
NM_004320.6(ATP2A1):c.2944G>A (p.Glu982Lys) rs538702357
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup) rs727502902
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.826G>C (p.Val276Leu) rs1057518105
NM_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
NM_004360.5(CDH1):c.2100del (p.Val701fs) rs1555517136
NM_004360.5(CDH1):c.2398del (p.Arg800fs) rs587783048
NM_004360.5(CDH1):c.48G>A (p.Gln16=) rs749591910
NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys) rs369632687
NM_004371.4(COPA):c.728A>G (p.Asp243Gly) rs794727994
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln) rs1131691326
NM_004387.4(NKX2-5):c.334+1G>T rs876661380
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys) rs104893906
NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe) rs797045023
NM_004415.4(DSP):c.1A>G (p.Met1Val) rs1131691557
NM_004415.4(DSP):c.6610C>T (p.Gln2204Ter) rs876657798
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg) rs376923069
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys) rs1584667224
NM_004444.5(EPHB4):c.2419G>A (p.Gly807Arg) rs1330628156
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920
NM_004453.4(ETFDH):c.524G>C (p.Arg175Pro) rs121964955
NM_004456.5(EZH2):c.2234A>G (p.Glu745Gly) rs1584844048
NM_004484.4(GPC3):c.1705G>A (p.Ala569Thr) rs122453120
NM_004523.4(KIF11):c.1288GAG[2] (p.Glu432del) rs1554861545
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
NM_004523.4(KIF11):c.704C>G (p.Ser235Cys) rs387906643
NM_004539.4(NARS1):c.32G>C (p.Arg11Pro) rs771435243
NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys) rs1060502042
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.616C>A (p.Pro206Thr)
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg) rs1705222655
NM_004656.4(BAP1):c.277A>G (p.Thr93Ala) rs375129361
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241
NM_004700.4(KCNQ4):c.1012C>T (p.Arg338Trp) rs2148320413
NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val) rs80358275
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) rs797044966
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_004722.4(AP4M1):c.929+5G>A rs1293317548
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004793.4(LONP1):c.1913C>T (p.Thr638Met) rs757666530
NM_004820.5(CYP7B1):c.1346G>A (p.Cys449Tyr) rs761060634
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del) rs1598233581
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004897.5(MINPP1):c.1456G>A (p.Glu486Lys) rs2131848604
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser) rs749643952
NM_004958.4(MTOR):c.7570C>T (p.Gln2524Ter)
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter) rs763353895
NM_004974.4(KCNA2):c.925A>G (p.Arg309Gly) rs2101398407
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) rs1569017114
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys) rs202170806
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys) rs2140159368
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) rs864309724
NM_004992.4(MECP2):c.26+2T>A rs267608409
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_005026.5(PIK3CD):c.419G>A (p.Arg140His)
NM_005027.4(PIK3R2):c.1694C>G (p.Pro565Arg) rs1131691683
NM_005032.7(PLS3):c.1774A>G (p.Met592Val)
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_005076.5(CNTN2):c.418C>T (p.Arg140Ter)
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu) rs2147797835
NM_005120.3(MED12):c.3844G>A (p.Val1282Met) rs398124197
NM_005124.4(NUP153):c.938A>T (p.Gln313Leu)
NM_005151.4(USP14):c.233_236del (p.Leu78fs) rs2144233064
NM_005157.6(ABL1):c.350C>T (p.Thr117Met) rs1830948350
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val) rs104894269
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys) rs387906666
NM_005198.5(CHKB):c.1129C>T (p.Arg377Trp) rs766848672
NM_005198.5(CHKB):c.565_568del (p.Phe189fs) rs752436924
NM_005199.5(CHRNG):c.518dup (p.Tyr173Ter) rs1559303793
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) rs1581573923
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn) rs1581573970
NM_005267.5(GJA8):c.130G>A (p.Val44Met)
NM_005267.5(GJA8):c.131T>A (p.Val44Glu) rs80358204
NM_005267.5(GJA8):c.133T>C (p.Trp45Arg)
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg) rs1553242554
NM_005267.5(GJA8):c.142G>A (p.Glu48Lys) rs80358201
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn) rs864309703
NM_005267.5(GJA8):c.20T>C (p.Leu7Pro)
NM_005267.5(GJA8):c.226C>T (p.Arg76Cys) rs1553242577
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu) rs782199122
NM_005267.5(GJA8):c.566C>T (p.Pro189Leu) rs397515627
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)
NM_005267.5(GJA8):c.593G>A (p.Arg198Gln) rs80358205
NM_005267.5(GJA8):c.595C>T (p.Pro199Ser) rs1651918704
NM_005267.5(GJA8):c.827C>T (p.Ser276Phe) rs45619342
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser) rs121909733
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys) rs121909736
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) rs1564788957
NM_005359.6(SMAD4):c.728_735del (p.Gly243fs) rs1060500742
NM_005360.5(MAF):c.916C>G (p.Arg306Gly) rs1913781557
NM_005373.3(MPL):c.823C>A (p.Pro275Thr) rs28928908
NM_005400.3(PRKCE):c.1795G>A (p.Glu599Lys) rs1553363925
NM_005422.4(TECTA):c.2264dup (p.Asn755fs) rs1159210445
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005477.3(HCN4):c.1209+2_1209+3insGTGA rs786205418
NM_005477.3(HCN4):c.1438G>A (p.Gly480Ser) rs121908411
NM_005477.3(HCN4):c.1471G>A (p.Asp491Asn) rs1060500107
NM_005559.4(LAMA1):c.505C>T (p.Arg169Ter) rs752872595
NM_005562.3(LAMC2):c.3328+1G>A rs1475860578
NM_005585.5(SMAD6):c.1084C>T (p.Gln362Ter) rs1894556452
NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu) rs387907284
NM_005585.5(SMAD6):c.508C>T (p.Gln170Ter) rs1235097131
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) rs760571406
NM_005591.4(MRE11):c.140C>T (p.Ala47Val) rs730880378
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter) rs779269083
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005618.4(DLL1):c.845dup (p.Leu283fs) rs760008381
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr) rs1603217815
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) rs122453115
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs) rs1603216806
NM_005630.3(SLCO2A1):c.1370C>T (p.Pro457Leu)
NM_005630.3(SLCO2A1):c.289C>T (p.Arg97Cys)
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr) rs1601855785
NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr) rs1601857538
NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys) rs1601857555
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys) rs2149946003
NM_005654.6(NR2F1):c.437G>A (p.Cys146Tyr) rs1753213218
NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe) rs1283637638
NM_005664.4(MKRN3):c.482dup (p.Ala162fs) rs763195944
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005732.4(RAD50):c.1793+4A>C rs863224738
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.326_329del (p.Thr109fs) rs587780155
NM_005787.6(ALG3):c.749T>A (p.Leu250Gln) rs2108440795
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005901.6(SMAD2):c.358C>T (p.Arg120Ter)
NM_005901.6(SMAD2):c.544C>T (p.Arg182Ter) rs370352616
NM_005902.4(SMAD3):c.1250C>T (p.Pro417Leu) rs1963334413
NM_005902.4(SMAD3):c.871+2T>C rs863223761
NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter) rs1554055106
NM_005912.3(MC4R):c.148G>A (p.Val50Met) rs121913557
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005912.3(MC4R):c.656C>T (p.Ala219Val) rs121913567
NM_005912.3(MC4R):c.690del (p.Gly231fs) rs758387065
NM_005912.3(MC4R):c.907G>C (p.Ala303Pro)
NM_005957.5(MTHFR):c.-13-28_-13-27del rs1553188112
NM_005957.5(MTHFR):c.1060C>T (p.His354Tyr) rs786204022
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe) rs786204028
NM_005957.5(MTHFR):c.1793T>C (p.Leu598Pro) rs786204034
NM_005957.5(MTHFR):c.643_645del (p.Lys215del) rs746353274
NM_005957.5(MTHFR):c.760C>T (p.Pro254Ser) rs786204017
NM_005982.4(SIX1):c.746C>T (p.Pro249Leu) rs368974927
NM_005984.5(SLC25A1):c.205G>T (p.Asp69Tyr) rs2083996886
NM_006005.3(WFS1):c.1820C>G (p.Pro607Arg) rs373862003
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006005.3(WFS1):c.2390A>T (p.Asp797Val)
NM_006005.3(WFS1):c.911_914dup (p.Asp305_Met306insTer) rs863224264
NM_006009.4(TUBA1A):c.1225G>A (p.Val409Ile) rs1565626928
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) rs1565627795
NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr) rs1085307716
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln) rs2121246284
NM_006009.4(TUBA1A):c.427G>A (p.Gly143Arg) rs1131691318
NM_006009.4(TUBA1A):c.449C>T (p.Thr150Ile) rs1565627339
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006009.4(TUBA1A):c.640C>T (p.Arg214Cys) rs886044568
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly) rs137853043
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006013.5(RPL10):c.232A>G (p.Lys78Glu) rs1131692040
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs) rs2124740134
NM_006031.6(PCNT):c.8563C>T (p.Arg2855Ter)
NM_006031.6(PCNT):c.9820del (p.Ser3274fs)
NM_006031.6(PCNT):c.9870_9873del (p.Glu3290fs)
NM_006060.6(IKZF1):c.484C>T (p.Arg162Trp) rs1584925614
NM_006080.3(SEMA3A):c.1663C>T (p.Arg555Ter) rs747485179
NM_006086.4(TUBB3):c.1070C>T (p.Pro357Leu) rs2151093027
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006087.4(TUBB4A):c.1172G>T (p.Arg391Leu) rs886041021
NM_006087.4(TUBB4A):c.673C>T (p.Leu225Phe) rs1568409639
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_006133.3(DAGLA):c.2613dup (p.Ser872fs)
NM_006158.5(NEFL):c.292A>G (p.Asn98Asp)
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006182.4(DDR2):c.2219A>G (p.Tyr740Cys) rs1558081627
NM_006204.4(PDE6C):c.1670G>A (p.Arg557Gln)
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006231.4(POLE):c.1180C>T (p.Gln394Ter) rs1565975090
NM_006231.4(POLE):c.1359+5G>A rs761564635
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.2026+3G>T rs749631362
NM_006231.4(POLE):c.2065C>T (p.Gln689Ter) rs2042846526
NM_006231.4(POLE):c.20_29dup (p.Asp12fs) rs1555231426
NM_006231.4(POLE):c.226A>T (p.Lys76Ter) rs1468404698
NM_006231.4(POLE):c.2707G>T (p.Glu903Ter) rs1555226066
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.4(POLE):c.2T>A (p.Met1Lys) rs879254126
NM_006231.4(POLE):c.2T>C (p.Met1Thr) rs879254126
NM_006231.4(POLE):c.2T>G (p.Met1Arg) rs879254126
NM_006231.4(POLE):c.3080_3081del (p.Asp1026_Ser1027insTer) rs752148857
NM_006231.4(POLE):c.3497G>A (p.Trp1166Ter) rs1426673673
NM_006231.4(POLE):c.4270G>T (p.Glu1424Ter) rs575419120
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs) rs1593733806
NM_006231.4(POLE):c.4647dup (p.Lys1550fs) rs754220952
NM_006231.4(POLE):c.4857_4858insA (p.Gly1620fs) rs1432073374
NM_006231.4(POLE):c.5367dup (p.Asn1790Ter) rs959133191
NM_006231.4(POLE):c.654dup (p.Val219fs) rs2136020791
NM_006231.4(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006231.4(POLE):c.672C>G (p.Tyr224Ter) rs376923206
NM_006231.4(POLE):c.850_851del (p.Lys284fs) rs1555229421
NM_006231.4(POLE):c.999dup (p.Val334fs) rs2043045437
NM_006245.4(PPP2R5D):c.748G>A (p.Glu250Lys) rs1762178779
NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His) rs1762178916
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006254.4(PRKCD):c.315G>A (p.Trp105Ter) rs2107257487
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
NM_006280.3(SSR4):c.417+1G>A rs1057518735
NM_006295.3(VARS1):c.2653C>T (p.Leu885Phe) rs1060499734
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His) rs2075586377
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.4(SMC1A):c.793_795del (p.Glu265del) rs1602413408
NM_006346.4(PIBF1):c.1974_1977del (p.Asn658fs)
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs) rs1563018529
NM_006348.5(COG5):c.81del (p.Glu27fs) rs777937112
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile) rs377244188
NM_006415.4(SPTLC1):c.1055C>T (p.Ala352Val) rs267607088
NM_006432.5(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006445.4(PRPF8):c.3893G>A (p.Arg1298His) rs2151116846
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys) rs1911322255
NM_006486.3(FBLN1):c.1190G>T (p.Cys397Phe) rs397509432
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006513.4(SARS1):c.969+1_969+3del
NM_006514.4(SCN10A):c.3910G>A (p.Ala1304Thr) rs142173735
NM_006516.4(SLC2A1):c.1131CTT[1] (p.Phe379del)
NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser) rs398123069
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.4(SLC2A1):c.203C>T (p.Ser68Leu) rs1570593865
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His) rs794727642
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) rs80359822
NM_006516.4(SLC2A1):c.877T>C (p.Tyr293His) rs2124448410
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) rs1131691283
NM_006565.4(CTCF):c.1130G>A (p.Arg377His) rs968244943
NM_006567.5(FARS2):c.515TGG[2] (p.Val174del) rs1554169392
NM_006580.4(CLDN16):c.2T>C (p.Met1Thr) rs104893724
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys) rs104893726
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_006767.4(LZTR1):c.352del (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.406T>C (p.Tyr136His) rs1601717299
NM_006767.4(LZTR1):c.851G>A (p.Arg284His) rs768361273
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.1913+5G>A rs1761021575
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met) rs1057522195
NM_006796.3(AFG3L2):c.1219G>A (p.Asp407Asn) rs2143171648
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly) rs1753847242
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp) rs1567948262
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_006885.4(ZFHX3):c.10142_10165del (p.Arg3381_Gln3388del) rs727502780
NM_006891.4(CRYGD):c.176G>A (p.Arg59His) rs121909596
NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser) rs759448571
NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter) rs745313320
NM_006907.4(PYCR1):c.349G>T (p.Val117Phe) rs1356658811
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter) rs1592099852
NM_006940.6(SOX5):c.1678A>G (p.Met560Val) rs1591908609
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) rs1599397070
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) rs397514680
NM_006978.3(RNF113A):c.903_910del (p.Gln302fs) rs1603374549
NM_007035.4(KERA):c.209C>T (p.Pro70Leu)
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007103.4(NDUFV1):c.753_756del (p.Pro252fs) rs1229474296
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_007180.3(TREH):c.90-9_106del rs527655595
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.592G>C (p.Val198Leu) rs1555926708
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala) rs2053696720
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del) rs771860071
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007215.4(POLG2):c.673C>T (p.Arg225Ter) rs371515325
NM_007215.4(POLG2):c.796-2A>G rs2144187906
NM_007241.4(SNF8):c.304G>A (p.Val102Ile)
NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs) rs1279136929
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg) rs1370937766
NM_007272.3(CTRC):c.130del (p.Gln44fs) rs1344551908
NM_007272.3(CTRC):c.1A>G (p.Met1Val)
NM_007272.3(CTRC):c.308del (p.Gly103fs) rs773119534
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser) rs80357164
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.134+2del rs273897657
NM_007294.4(BRCA1):c.134+3A>C rs80358064
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter) rs80356984
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) rs28897672
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.243del (p.Gln81fs) rs273899684
NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs) rs273899686
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.301+1G>A rs587782173
NM_007294.4(BRCA1):c.301+2dup rs273899694
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs) rs80357797
NM_007294.4(BRCA1):c.3714_3747del (p.Gln1240fs) rs886038023
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter) rs80357262
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs) rs483353092
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4357+6T>C rs80358143
NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter) rs80356932
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) rs397509171
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.4516del (p.Asp1506fs) rs273900736
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter) rs80357229
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter) rs200432771
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.4986+5G>A rs397509211
NM_007294.4(BRCA1):c.4987-2A>G rs397509212
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs) rs80357608
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg) rs80357222
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg) rs80357094
NM_007294.4(BRCA1):c.5152+5G>A rs80358165
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5201T>G (p.Phe1734Cys) rs397509237
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter) rs397509247
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5359T>A (p.Cys1787Ser) rs80357065
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5406+5G>A rs80358073
NM_007294.4(BRCA1):c.5407-10G>A rs273901767
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5464_5465insT (p.His1822fs) rs273902769
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn) rs80357368
NM_007294.4(BRCA1):c.5524_5531del (p.Val1842fs) rs879255287
NM_007294.4(BRCA1):c.61del (p.Ile21fs) rs273902778
NM_007294.4(BRCA1):c.626del (p.Pro209fs) rs886040920
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.4(BRCA1):c.80+5G>A rs80358045
NM_007294.4(BRCA1):c.81-9C>G rs80358127
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) rs80357989
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) rs2045826576
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln) rs1554770044
NM_007373.4(SHOC2):c.517A>G (p.Met173Val) rs1057518206
NM_007375.4(TARDBP):c.*697G>A rs387906334
NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala) rs121908395
NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg) rs879255689
NM_012062.5(DNM1L):c.106A>G (p.Ser36Gly) rs879255688
NM_012062.5(DNM1L):c.346_347del (p.Glu116fs) rs879255687
NM_012079.6(DGAT1):c.629_631del (p.Ser210del) rs782577883
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
NM_012144.4(DNAI1):c.1676G>A (p.Cys559Tyr) rs1335386227
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)
NM_012179.4(FBXO7):c.1268_1272dup (p.Tyr425fs) rs749534144
NM_012179.4(FBXO7):c.726_727del (p.Cys243fs) rs1290655316
NM_012186.3(FOXE3):c.844_850dup (p.Glu284delinsAlaArgTer) rs1476879051
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys) rs1672558841
NM_012208.4(HARS2):c.489dup (p.Ile164fs) rs781549967
NM_012213.3(MLYCD):c.475del (p.Ala159fs) rs796051991
NM_012247.5(SEPHS1):c.1111C>T (p.Arg371Trp)
NM_012318.3(LETM1):c.2220G>C (p.Ter740Tyr) rs2108832865
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter) rs1383727273
NM_012448.4(STAT5B):c.1924A>C (p.Asn642His) rs938448224
NM_012452.3(TNFRSF13B):c.350_356del (p.Glu117fs) rs1293048695
NM_012479.4(YWHAG):c.395G>A (p.Arg132His) rs1583981615
NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala) rs1554618767
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys) rs1027249002
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter) rs1364690005
NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln) rs2033511172
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp) rs1555523386
NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys) rs1567537304
NM_013328.4(PYCR2):c.596G>A (p.Arg199Gln)
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter) rs1553157428
NM_013432.5(TONSL):c.3611del (p.Pro1204fs)
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu) rs387906709
NM_013444.4(UBQLN2):c.724G>A (p.Ala242Thr) rs1360902821
NM_014003.4(DHX38):c.995G>A (p.Gly332Asp) rs587777554
NM_014009.4(FOXP3):c.967+4A>G rs1426535368
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) rs122467173
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs) rs917547961
NM_014055.4(IFT81):c.1300CTT[1] (p.Leu435del) rs1555266475
NM_014225.6(PPP2R1A):c.430C>T (p.Arg144Cys) rs2122329969
NM_014225.6(PPP2R1A):c.658G>A (p.Val220Met) rs2122337413
NM_014231.5(VAMP1):c.65del (p.Pro22fs) rs886042861
NM_014236.4(GNPAT):c.569-3T>G rs745869264
NM_014239.4(EIF2B2):c.570del (p.Ile190fs) rs755436800
NM_014264.5(PLK4):c.2209_2210del (p.Glu737fs)
NM_014270.5(SLC7A9):c.120G>A (p.Val40=) rs140179068
NM_014270.5(SLC7A9):c.857C>T (p.Ser286Phe) rs755135545
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014458.4(KLHL20):c.971G>A (p.Gly324Asp)
NM_014516.4(CNOT3):c.732del (p.Ser245fs) rs753475896
NM_014585.6(SLC40A1):c.697C>G (p.Leu233Val) rs186912553
NM_014625.4(NPHS2):c.115C>T (p.Gln39Ter) rs869312746
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr) rs1490010141
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys) rs869312709
NM_014639.4(SKIC3):c.2578-7_2578-3del rs746874042
NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer) rs752052886
NM_014639.4(SKIC3):c.3514C>T (p.Gln1172Ter)
NM_014727.3(KMT2B):c.7549C>T (p.Arg2517Trp) rs1057519285
NM_014780.5(CUL7):c.4651C>T (p.Gln1551Ter)
NM_014844.5(TECPR2):c.2998G>T (p.Asp1000Tyr) rs1889962674
NM_014844.5(TECPR2):c.566C>T (p.Thr189Ile) rs1888974156
NM_014845.6(FIG4):c.1260_1261del (p.Thr422fs) rs397509394
NM_014845.6(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.6(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.491C>T (p.Ala164Val) rs1553142699
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014946.4(SPAST):c.1173G>A (p.Leu391=) rs1679218212
NM_014946.4(SPAST):c.1245+6T>G rs1553317050
NM_014946.4(SPAST):c.1307C>T (p.Ser436Phe) rs1553318184
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser) rs2148753950
NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser) rs1060502228
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1550T>C (p.Leu517Ser) rs2148759388
NM_014946.4(SPAST):c.1616+5G>A rs2148759485
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.4(SPAST):c.1715T>C (p.Met572Thr) rs138146982
NM_014946.4(SPAST):c.1742G>C (p.Arg581Pro) rs749484350
NM_015001.3(SPEN):c.2417_2418dup (p.Arg807fs) rs764595221
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter) rs2071226510
NM_015001.3(SPEN):c.6223_6227del (p.Ser2075fs) rs2148741007
NM_015001.3(SPEN):c.6799G>T (p.Glu2267Ter) rs754293393
NM_015030.2(FRYL):c.1224del (p.Lys409fs)
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.6407G>A (p.Arg2136His) rs121434378
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475
NM_015047.3(EMC1):c.2858T>C (p.Phe953Ser) rs1267383375
NM_015087.5(SPART):c.988A>G (p.Met330Val) rs1399213398
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015166.4(MLC1):c.183C>A (p.Cys61Ter) rs1436214826
NM_015166.4(MLC1):c.839C>T (p.Ser280Leu) rs121908341
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015178.3(RHOBTB2):c.293G>A (p.Gly98Glu)
NM_015189.3(EXOC6B):c.946del (p.Arg316fs) rs2105685436
NM_015213.4(DENND5A):c.1622A>G (p.Asp541Gly) rs1057519309
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter) rs2096866595
NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys) rs879253864
NM_015278.5(SASH1):c.1537A>C (p.Ser513Arg) rs1237876014
NM_015278.5(SASH1):c.1784T>C (p.Met595Thr) rs1562491501
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) rs386834005
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp) rs1057519643
NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val) rs1135402740
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015346.4(ZFYVE26):c.1129del (p.Cys377fs) rs2140250002
NM_015412.4(NEPRO):c.280C>T (p.Arg94Cys) rs1236015814
NM_015425.6(POLR1A):c.3988_3990del (p.Glu1330del) rs1064794956
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) rs758673417
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys) rs587777472
NM_015450.3(POT1):c.283G>T (p.Gly95Cys) rs797045168
NM_015450.3(POT1):c.410G>A (p.Arg137His) rs587777475
NM_015450.3(POT1):c.809G>A (p.Ser270Asn) rs587777477
NM_015450.3(POT1):c.818G>A (p.Arg273Gln) rs587777476
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) rs747550590
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His) rs755843695
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015610.4(WIPI2):c.724C>T (p.Arg242Trp) rs1783201574
NM_015627.3(LDLRAP1):c.487C>T (p.Gln163Ter) rs1057515537
NM_015634.4(KIFBP):c.1516dup (p.Ile506fs) rs781469363
NM_015656.2(KIF26A):c.2161C>T (p.Arg721Cys)
NM_015662.3(IFT172):c.4607T>C (p.Leu1536Pro) rs587777080
NM_015697.9(COQ2):c.48dup (p.Ala17fs) rs767298430
NM_015836.4(WARS2):c.797del (p.Pro266fs) rs746478253
NM_015915.5(ATL1):c.1040T>C (p.Met347Thr) rs1595620366
NM_015915.5(ATL1):c.1222A>G (p.Met408Val) rs28939094
NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp) rs2039539644
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln) rs397514712
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp) rs2140239163
NM_015915.5(ATL1):c.1306_1308del (p.Asn436del) rs1595625206
NM_015915.5(ATL1):c.1319A>C (p.Asn440Thr)
NM_015915.5(ATL1):c.1519dup (p.Ile507fs) rs863223314
NM_015915.5(ATL1):c.488T>C (p.Val163Ala) rs1595600383
NM_015915.5(ATL1):c.751C>A (p.Gln251Lys) rs1595615134
NM_015915.5(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_015915.5(ATL1):c.776C>T (p.Ser259Phe) rs119476047
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_015978.3(TNNI3K):c.1774C>T (p.His592Tyr)
NM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg) rs376344575
NM_016035.5(COQ4):c.197_198delinsAA (p.Arg66Gln) rs886040973
NM_016035.5(COQ4):c.284G>A (p.Gly95Asp) rs779568890
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016035.5(COQ4):c.577C>T (p.Pro193Ser) rs568200779
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016065.4(MRPS16):c.331C>T (p.Arg111Ter) rs104894168
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu) rs772721937
NM_016097.5(IER3IP1):c.80del (p.Phe27fs) rs863223399
NM_016146.6(TRAPPC4):c.191T>C (p.Leu64Pro) rs1943259006
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly) rs1562851259
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del) rs772520618
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) rs749465098
NM_016239.4(MYO15A):c.6004del (p.Glu2002fs)
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_016239.4(MYO15A):c.7550C>G (p.Thr2517Ser) rs201119351
NM_016239.4(MYO15A):c.92del (p.Lys31fs)
NM_016247.4(IMPG2):c.3423-7_3423-4del rs534452999
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys) rs1567417422
NM_016284.5(CNOT1):c.4432C>T (p.Arg1478Cys) rs1567396193
NM_016327.3(UPB1):c.357del (p.Ala120fs) rs755693951
NM_016341.4(PLCE1):c.1081T>C (p.Trp361Arg) rs564879389
NM_016341.4(PLCE1):c.6742_6745del (p.Lys2248fs) rs747833630
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016525.5(UBAP1):c.426_427del (p.Lys143fs) rs1563920252
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016580.4(PCDH12):c.2765_2766del (p.Pro922fs) rs1596646165
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_016648.4(LARP7):c.297_303+2del rs2149262033
NM_016955.4(SEPSECS):c.114+3A>G
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs) rs752046945
NM_017433.5(MYO3A):c.4173_4174del (p.His1391fs) rs768570132
NM_017433.5(MYO3A):c.4360C>T (p.Gln1454Ter)
NM_017534.6(MYH2):c.4352del (p.Lys1451fs) rs757195322
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017668.3(NDE1):c.1A>G (p.Met1Val) rs794727491
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter) rs868442196
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017780.4(CHD7):c.2239-16T>A
NM_017791.3(FLVCR2):c.1386_1387del (p.Asp462fs)
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys) rs1293528130
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.723G>T (p.Met241Ile) rs149262877
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017950.4(CCDC40):c.1315C>T (p.Gln439Ter) rs387907091
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.954dup (p.Ala319fs) rs863224242
NM_018052.5(VAC14):c.1744G>A (p.Ala582Thr) rs749094914
NM_018055.5(NODAL):c.397C>T (p.Gln133Ter) rs1447874899
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018105.3(THAP1):c.241T>C (p.Phe81Leu) rs118204013
NM_018122.5(DARS2):c.1273G>T (p.Glu425Ter) rs121918211
NM_018122.5(DARS2):c.228-16C>A rs778731200
NM_018133.4(MSL2):c.1047_1050del (p.Ser349fs)
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter) rs142865061
NM_018263.6(ASXL2):c.1879dup (p.Ser627fs) rs1574391468
NM_018292.5(QRSL1):c.1279_1280delinsTT (p.Ala427Leu) rs1562173313
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909
NM_018684.4(ZC4H2):c.226-8T>A
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) rs587777302
NM_018947.6(CYCS):c.79C>T (p.His27Tyr) rs1783403912
NM_018965.4(TREM2):c.401A>G (p.Asp134Gly) rs28939079
NM_018965.4(TREM2):c.558G>T (p.Lys186Asn) rs28937876
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly) rs397515441
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.558del (p.Ile186fs) rs770658701
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu) rs397515443
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter) rs121908112
NM_018993.4(RIN2):c.40C>T (p.Arg14Ter)
NM_019032.6(ADAMTSL4):c.1620G>A (p.Trp540Ter)
NM_019042.5(PUS7):c.398+1G>T rs1264890888
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser) rs1178528306
NM_019109.5(ALG1):c.115del (p.Val39fs) rs886042130
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter) rs1261895166
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys) rs1555988422
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_019842.4(KCNQ5):c.730C>T (p.Arg244Cys) rs1314919218
NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs) rs558592800
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs) rs772429581
NM_020070.4(IGLL1):c.258del (p.Gln88fs) rs532338576
NM_020166.5(MCCC1):c.168C>G (p.Asn56Lys) rs1057520695
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) rs61995958
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020247.5(COQ8A):c.1806dup (p.Pro603fs)
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
NM_020338.4(ZMIZ1):c.253C>T (p.Arg85Ter) rs1039220588
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020427.3(SLURP1):c.211C>T (p.Arg71Cys)
NM_020442.6(VARS2):c.1346G>A (p.Trp449Ter)
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs) rs1553198611
NM_020529.3(NFKBIA):c.110T>A (p.Met37Lys) rs1566591073
NM_020529.3(NFKBIA):c.110T>G (p.Met37Arg) rs1566591073
NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter) rs121913664
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020661.4(AICDA):c.238T>C (p.Trp80Arg) rs104894320
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del) rs1180204613
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu) rs757434146
NM_020702.5(MYORG):c.782_783delinsTT rs1563982307
NM_020719.3(PRR12):c.5909T>C (p.Leu1970Pro) rs2122390232
NM_020751.3(COG6):c.1746+2T>G rs1555280464
NM_020771.4(HACE1):c.2487TCT[1] (p.Leu832del) rs869025283
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr) rs1553316264
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020829.4(RIC1):c.3794G>C (p.Arg1265Pro) rs763515150
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg) rs148402804
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln) rs1689578912
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020975.6(RET):c.1196C>T (p.Pro399Leu) rs1554818362
NM_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_020989.4(CRYGC):c.402C>G (p.Tyr134Ter) rs200505176
NM_020989.4(CRYGC):c.475dup (p.Ala159fs)
NM_021008.4(DEAF1):c.1090_1091del (p.Pro365fs) rs756419434
NM_021008.4(DEAF1):c.641T>C (p.Leu214Pro) rs1590017658
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser) rs751569402
NM_021008.4(DEAF1):c.788T>C (p.Leu263Ser)
NM_021008.4(DEAF1):c.791A>C (p.Gln264Pro) rs587777407
NM_021008.4(DEAF1):c.837C>G (p.Cys279Trp)
NM_021008.4(DEAF1):c.890T>C (p.Phe297Ser) rs1390761338
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021871.4(FGA):c.431_432del (p.Lys144fs) rs934668242
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021930.6(RINT1):c.1586del (p.Arg529fs)
NM_021930.6(RINT1):c.1626del (p.Ala542_Val543insTer)
NM_021930.6(RINT1):c.1672-1G>C
NM_021930.6(RINT1):c.1738del (p.Gln580fs) rs1791557727
NM_021930.6(RINT1):c.1773_1776dup (p.Asp593delinsLeuTer)
NM_021930.6(RINT1):c.1985_1986insAGAG (p.Gln664fs) rs1586272463
NM_021930.6(RINT1):c.310C>T (p.Arg104Ter) rs777242801
NM_021930.6(RINT1):c.390del (p.Ile131fs) rs771302691
NM_021930.6(RINT1):c.617del (p.Cys206fs) rs1790695219
NM_021930.6(RINT1):c.659G>A (p.Trp220Ter) rs1790697157
NM_021930.6(RINT1):c.740del (p.Pro247fs) rs1352349454
NM_021930.6(RINT1):c.766C>T (p.Arg256Ter) rs144994876
NM_021939.4(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_021939.4(FKBP10):c.918-3C>A
NM_021942.6(TRAPPC11):c.751T>C (p.Tyr251His)
NM_021954.4(GJA3):c.563A>T (p.Asn188Ile) rs140332366
NM_021954.4(GJA3):c.616T>A (p.Phe206Ile) rs397514704
NM_021954.4(GJA3):c.82G>A (p.Val28Met) rs1555339539
NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr) rs1790057505
NM_021957.4(GYS2):c.1336C>G (p.His446Asp) rs121918425
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg) rs121918422
NM_021961.6(TEAD1):c.1261T>A (p.Tyr421Asn) rs11567847
NM_021964.3(ZNF148):c.969dup (p.Ser324fs) rs1935959694
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_021975.4(RELA):c.736C>T (p.Arg246Ter) rs1565190345
NM_022041.4(GAN):c.1012A>T (p.Lys338Ter) rs1181977802
NM_022041.4(GAN):c.1268T>C (p.Ile423Thr) rs119485091
NM_022041.4(GAN):c.1429C>T (p.Arg477Ter) rs119485094
NM_022041.4(GAN):c.1502+1G>T rs1555511978
NM_022041.4(GAN):c.18_19insA (p.Val7fs) rs1597385624
NM_022041.4(GAN):c.413G>A (p.Arg138His) rs119485092
NM_022041.4(GAN):c.43C>A (p.Arg15Ser) rs119485093
NM_022041.4(GAN):c.484C>T (p.Arg162Ter) rs1300267158
NM_022041.4(GAN):c.505G>A (p.Glu169Lys) rs119485095
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
NM_022081.6(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del) rs759141702
NM_022114.4(PRDM16):c.213del (p.Val72fs) rs1569798933
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn) rs1318444606
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) rs762118583
NM_022124.6(CDH23):c.9199-4G>A rs369900526
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022370.4(ROBO3):c.571dup (p.Arg191fs) rs756837590
NM_022437.3(ABCG8):c.1256_1257delinsAA (p.Ile419Lys) rs2104947166
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys) rs2127263139
NM_022455.5(NSD1):c.6152-14G>A rs587784182
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.5(NSD1):c.788_789del (p.Thr263fs) rs1756282703
NM_022464.5(SIL1):c.1030-18G>A
NM_022552.5(DNMT3A):c.2726T>C (p.Phe909Ser) rs1673065619
NM_022575.4(VPS16):c.1939C>T (p.Arg647Ter) rs374914263
NM_022726.4(ELOVL4):c.539A>C (p.Gln180Pro) rs2127698493
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_022773.4(LMF1):c.1024C>T (p.Arg342Ter)
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter) rs2072617381
NM_022786.3(ARV1):c.674-2A>T rs1192627743
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe) rs387907292
NM_023110.3(FGFR1):c.1880G>C (p.Arg627Thr) rs869025671
NM_023110.3(FGFR1):c.565C>T (p.Arg189Cys) rs863223331
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp) rs1246231808
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_024079.5(ALG8):c.396dup (p.Val133fs) rs753631154
NM_024105.4(ALG12):c.200C>T (p.Thr67Met) rs121907931
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp) rs104894690
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) rs759875552
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr) rs121918217
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro) rs143788461
NM_024312.5(GNPTAB):c.775C>T (p.Gln259Ter) rs1566078120
NM_024426.6(WT1):c.1349A>G (p.His450Arg) rs1851851609
NM_024426.6(WT1):c.1354+5G>A rs2132919246
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747
NM_024537.4(CARS2):c.155T>G (p.Val52Gly) rs1566366322
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs) rs1085307091
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024592.5(SRD5A3):c.697+1G>C rs1719958144
NM_024596.5(MCPH1):c.843_846del (p.His282fs)
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_024665.7(TBL1XR1):c.1097C>T (p.Ser366Phe) rs2108436373
NM_024675.4(PALB2):c.123del (p.Glu42fs) rs1967104136
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter) rs1218512317
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.4(PALB2):c.3543del (p.Phe1181fs) rs1567204928
NM_024678.6(NARS2):c.637G>T (p.Val213Phe) rs756725793
NM_024685.4(BBS10):c.101G>C (p.Arg34Pro) rs137852836
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
NM_024685.4(BBS10):c.32T>G (p.Val11Gly) rs137852838
NM_024725.4(CCDC82):c.183del (p.Phe61fs) rs1866078752
NM_024740.2(ALG9):c.1173+2T>A rs786205134
NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys) rs121908022
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=) rs2132793967
NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly) rs118204451
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_024844.5(NUP85):c.1430C>T (p.Ala477Val) rs1568094661
NM_024884.3(L2HGDH):c.408+1G>C rs2030438427
NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer)
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_025074.7(FRAS1):c.2571del (p.Ala856_Cys857insTer) rs1560681144
NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del) rs730882178
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814
NM_025077.4(TOE1):c.940_941del (p.Gln314fs) rs780563835
NM_025114.4(CEP290):c.4704+1G>T rs1565835538
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025137.4(SPG11):c.1551_1552del (p.Cys518fs) rs312262730
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.6021del (p.Tyr2008fs) rs886051179
NM_025137.4(SPG11):c.6477+4A>G rs312262780
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_025243.4(SLC19A3):c.1154T>G (p.Leu385Arg) rs563607795
NM_025243.4(SLC19A3):c.464C>T (p.Ser155Leu) rs1131691615
NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs) rs1599574018
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly) rs1565941025
NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)
NM_030777.4(SLC2A10):c.254T>C (p.Leu85Pro) rs754120063
NM_030787.4(CFHR5):c.678del (p.Glu226fs) rs368209619
NM_030787.4(CFHR5):c.993C>A (p.Cys331Ter) rs751010317
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) rs776679653
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) rs1085307129
NM_031372.4(HNRNPDL):c.1132G>A (p.Asp378Asn) rs587777669
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031443.4(CCM2):c.346T>C (p.Ser116Pro) rs1562907616
NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter) rs1573337552
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) rs779453109
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) rs754216321
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.7130G>A (p.Arg2377Gln) rs369341309
NM_032119.4(ADGRV1):c.7133+3A>G rs911015463
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032415.7(CARD11):c.358+1G>A rs2115090359
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_032578.4(MYPN):c.1273G>T (p.Gly425Ter) rs777033025
NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu) rs864621995
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_032634.4(PIGO):c.589_590del (p.Pro197fs) rs763591247
NM_032638.5(GATA2):c.1021_1024dup (p.Ala342fs) rs869320770
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_032888.4(COL27A1):c.3157C>T (p.Arg1053Ter)
NM_033056.4(PCDH15):c.4599_4602dup (p.Gln1535fs) rs781231890
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033124.5(CCDC65):c.913C>T (p.Arg305Ter)
NM_033337.3(CAV3):c.10_17del (p.Glu4fs) rs778914298
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_033380.3(COL4A5):c.646G>A (p.Gly216Arg) rs104886067
NM_033419.5(PGAP3):c.850C>G (p.His284Asp)
NM_033550.4(TP53RK):c.728G>T (p.Arg243Leu) rs776588426
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del) rs1555274496
NM_052867.4(NALCN):c.3959C>T (p.Thr1320Met)
NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly) rs730882223
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570
NM_053025.4(MYLK):c.3393dup (p.Thr1132fs) rs2108576783
NM_053274.3(GLMN):c.1323dup (p.Thr442fs) rs771252983
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp) rs771794639
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu) rs376371866
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_057176.3(BSND):c.107C>A (p.Thr36Asn)
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058246.4(DNAJB6):c.236-3C>G
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer) rs397518432
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)
NM_130837.3(OPA1):c.3013_3019dup (p.Phe1007Ter) rs1553797598
NM_130839.5(UBE3A):c.1609-8A>G rs2077891986
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) rs1951433087
NM_130849.4(SLC39A4):c.1534G>T (p.Gly512Trp)
NM_133181.4(EPS8L3):c.22G>A (p.Ala8Thr) rs1650987435
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter) rs148828179
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln) rs587783978
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133443.4(GPT2):c.815C>T (p.Pro272Leu) rs886038199
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter) rs149648640
NM_133638.6(ADAMTS19):c.3538C>T (p.Arg1180Ter)
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp) rs753688777
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) rs764396564
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr) rs374327791
NM_138413.4(HOGA1):c.713del (p.Gly238fs) rs760930050
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_138636.5(TLR8):c.1295C>T (p.Pro432Leu) rs2147258995
NM_138638.5(CFL2):c.19G>A (p.Val7Met) rs397515451
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser) rs1554176504
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2990T>A (p.Met997Lys) rs2128182593
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.6332+2T>A rs1783090781
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr) rs1037991711
NM_138694.4(PKHD1):c.7994T>C (p.Leu2665Pro)
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg) rs754448530
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro) rs373241537
NM_138694.4(PKHD1):c.9727del (p.Ile3243fs) rs1562221540
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
NM_139159.5(DPP9):c.499G>A (p.Gly167Ser)
NM_139159.5(DPP9):c.641C>G (p.Ser214Ter)
NM_139276.3(STAT3):c.1852G>C (p.Gly618Arg) rs2081548277
NM_139276.3(STAT3):c.1940A>T (p.Asn647Ile) rs770986654
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_144573.4(NEXN):c.1450C>T (p.Arg484Ter) rs767792289
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_144573.4(NEXN):c.461_464del (p.Asn154fs) rs794729088
NM_144573.4(NEXN):c.784C>T (p.Arg262Ter) rs1002648603
NM_144573.4(NEXN):c.962del (p.Arg321fs) rs915318065
NM_144599.5(NIPA1):c.403G>A (p.Val135Met) rs763295984
NM_144643.4(SCLT1):c.290+2T>C rs587777504
NM_144666.3(DNHD1):c.10717G>T (p.Glu3573Ter) rs763743788
NM_144666.3(DNHD1):c.12240del (p.Lys4080fs) rs751352585
NM_144670.6(A2ML1):c.2478_2485dup (p.Ser829fs) rs863224951
NM_144687.4(NLRP12):c.1223G>A (p.Trp408Ter) rs774895361
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter) rs781361326
NM_144687.4(NLRP12):c.2072+2dup rs104895565
NM_144772.3(NAXE):c.326dup (p.Thr110fs) rs779820587
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys) rs141090506
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)
NM_144991.3(TSPEAR):c.1870G>T (p.Glu624Ter) rs587717339
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1658G>A (p.Trp553Ter) rs879255684
NM_144997.7(FLCN):c.1665_1666insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT (p.Gly556fs)
NM_144997.7(FLCN):c.31T>G (p.Cys11Gly) rs879255659
NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter) rs587777779
NM_145064.3(STAC3):c.432+4A>T rs751033943
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys) rs932713001
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_145698.5(ACBD5):c.1467G>A (p.Trp489Ter) rs1564574359
NM_147188.3(FBXO22):c.159_162del (p.Arg53fs) rs2141698833
NM_147196.3(TMIE):c.211+1G>C
NM_152268.4(PARS2):c.239T>C (p.Ile80Thr) rs1246773873
NM_152268.4(PARS2):c.604C>G (p.Arg202Gly) rs141760650
NM_152268.4(PARS2):c.607G>A (p.Glu203Lys) rs1557762729
NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152305.3(POGLUT1):c.394C>T (p.Arg132Ter) rs140695299
NM_152383.5(DIS3L2):c.1466G>A (p.Cys489Tyr) rs387907116
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) rs763301637
NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter) rs367543077
NM_152542.5(PPM1K):c.417_418del (p.Thr140fs)
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) rs1554590433
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu) rs1554341671
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys) rs1554341158
NM_152713.5(STT3A):c.1589A>C (p.Tyr530Ser) rs2135940602
NM_152713.5(STT3A):c.1637C>T (p.Thr546Ile) rs2135940683
NM_152713.5(STT3A):c.985C>T (p.Arg329Cys) rs2135932096
NM_152722.5(HEPACAM):c.382G>A (p.Asp128Asn) rs1947184803
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del) rs1562582216
NM_152743.4(BRAT1):c.393_422dup (p.Gln132_Ala141dup) rs1562582216
NM_152753.4(SCUBE3):c.1717C>T (p.Arg573Ter) rs1436996181
NM_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr) rs267606759
NM_152906.7(TANGO2):c.59T>G (p.Leu20Arg) rs1191958022
NM_153006.3(NAGS):c.1228T>C (p.Ser410Pro)
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro) rs104894605
NM_153033.5(KCTD7):c.335G>A (p.Arg112His) rs774026720
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg) rs730880295
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_170707.4(LMNA):c.1003del (p.Arg335fs) rs1553265660
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1488+1G>A rs267607640
NM_170707.4(LMNA):c.513+1G>A rs397517904
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr) rs886041860
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
NM_173076.3(ABCA12):c.179G>C (p.Arg60Pro) rs762065937
NM_173602.3(DIP2B):c.2962-2_2962-1del rs768972285
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) rs765676223
NM_174878.3(CLRN1):c.253+6T>C
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.1496G>A (p.Arg499His) rs143394031
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly) rs11583680
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala)
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
NM_175748.4(UBR7):c.618del (p.Glu207fs) rs1894637828
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr) rs1229650809
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys) rs193922480
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176869.3(PPA2):c.938C>A (p.Ser313Ter) rs151331559
NM_177438.3(DICER1):c.2236A>G (p.Arg746Gly) rs886037686
NM_177438.3(DICER1):c.5125G>A (p.Asp1709Asn) rs1595331264
NM_177438.3(DICER1):c.5126A>G (p.Asp1709Gly) rs1555366979
NM_177438.3(DICER1):c.5425G>A (p.Gly1809Arg) rs1595314951
NM_177438.3(DICER1):c.5428G>T (p.Asp1810Tyr) rs775912475
NM_177438.3(DICER1):c.5438A>C (p.Glu1813Ala) rs1889806272
NM_177438.3(DICER1):c.832C>T (p.Leu278Phe) rs768248216
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177559.3(CSNK2A1):c.400C>T (p.Arg134Ter) rs2122537652
NM_177939.3(P4HTM):c.949del (p.Val317fs) rs1576608329
NM_177965.4(CFAP418):c.16_19del (p.Asp6fs) rs1563477343
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg) rs797046075
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met) rs1057520391
NM_178012.5(TUBB2B):c.743C>T (p.Ala248Val) rs777598117
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_178012.5(TUBB2B):c.935C>T (p.Thr312Met)
NM_178014.4(TUBB):c.860C>T (p.Pro287Leu) rs1554202416
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp) rs1567759130
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_182641.4(BPTF):c.255dup (p.Ser86fs) rs1598050118
NM_182641.4(BPTF):c.2598dup (p.Glu867fs) rs753044214
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
NM_182931.3(KMT2E):c.280del (p.Thr94fs) rs1584746915
NM_182943.3(PLOD2):c.2122-2A>G
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter) rs766499430
NM_182961.4(SYNE1):c.25119+1G>A rs1164612098
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu) rs776631396
NM_183050.4(BCKDHB):c.704G>A (p.Cys235Tyr) rs911181994
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) rs398124599
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541
NM_183357.3(ADCY5):c.2026dup (p.Ala676fs) rs151195921
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro) rs397515599
NM_194277.3(FRMD7):c.685C>T (p.Arg229Cys) rs137852212
NM_194277.3(FRMD7):c.782G>A (p.Arg261Gln) rs1332489637
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr) rs1562595388
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) rs2062427908
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys) rs2063220897
NM_198271.5(LMOD3):c.1100ACA[1] (p.Asn368del) rs727502798
NM_198334.3(GANAB):c.1199G>T (p.Arg400Leu) rs770519542
NM_198428.3(BBS9):c.263+4A>G rs370916293
NM_198514.4(NHLRC2):c.1A>G (p.Met1Val) rs2134678958
NM_198514.4(NHLRC2):c.2074G>T (p.Asp692Tyr)
NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter) rs749355583
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter) rs2106802170
NM_198904.4(GABRG2):c.247C>T (p.Pro83Ser) rs587777365
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_199242.3(UNC13D):c.2448-13G>A rs753762300
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)
NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)
NM_199355.4(ADAMTS18):c.1731C>G (p.Cys577Trp) rs148319220
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) rs587783653
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys) rs569826109
NM_203475.3(PORCN):c.1093C>T (p.Arg365Trp) rs398124616
NM_203475.3(PORCN):c.787G>A (p.Glu263Lys) rs1556974682
NM_203486.3(DLL3):c.395del (p.Gly132fs) rs761454301
NM_203486.3(DLL3):c.529_535del (p.Arg177fs) rs1452482256
NM_203486.3(DLL3):c.602del (p.Gly201fs) rs1293908408
NM_203486.3(DLL3):c.618del (p.Cys207fs) rs786200902
NM_205836.3(FBXO38):c.616T>C (p.Cys206Arg) rs398122838
NM_205850.3(SLC24A5):c.546T>A (p.Ser182Arg) rs1057517995
NM_206538.4(EMC10):c.287del (p.Gly96fs) rs770255014
NM_206933.4(USH2A):c.1039G>C (p.Asp347His) rs772317024
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser) rs111033439
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn) rs910086490
NM_206933.4(USH2A):c.10817T>C (p.Leu3606Pro)
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu) rs527236139
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg) rs908265742
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val) rs878853409
NM_206933.4(USH2A):c.12104C>T (p.Pro4035Leu)
NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys) rs757525434
NM_206933.4(USH2A):c.13022G>T (p.Cys4341Phe) rs397517985
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys) rs767209934
NM_206933.4(USH2A):c.15465dup (p.Val5156fs) rs769582796
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del) rs1294733964
NM_206933.4(USH2A):c.3713C>G (p.Thr1238Arg) rs768461447
NM_206933.4(USH2A):c.4385C>T (p.Thr1462Ile) rs2034687815
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys) rs1553294134
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.4(USH2A):c.8546G>T (p.Gly2849Val) rs1064794034
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958
NM_206965.2(FTCD):c.896G>C (p.Arg299Pro) rs119469015
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207111.4(RNF216):c.1616A>G (p.Tyr539Cys) rs148642312
NM_207352.4(CYP4V2):c.1169G>A (p.Arg390His) rs199476201
NM_207361.6(FREM2):c.7002_7005del (p.Glu2335fs) rs768342700
NM_212482.4(FN1):c.638G>A (p.Cys213Tyr) rs1559604072
NM_213653.4(HJV):c.497A>G (p.His166Arg) rs1553769663
NR_001566.1(TERC):n.374_1194del821 rs1553915517
NR_001566.3(TERC):n.116C>T rs199422272
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_033294.2(SNORD118):n.104G>A rs201686383
NR_033294.2(SNORD118):n.131C>G rs746503581
NR_033294.2(SNORD118):n.20C>T rs545394298
NR_033294.2(SNORD118):n.3C>T rs117735243
Single allele
UGT1A1*28 rs3064744
UGT1A1*37 rs3064744
c.(1186+1_1187-1)_(2140+1_2141-1)dup
c.(1586+1_1587-1)_(1845+1_1846-1)dup
c.(?_-187)_(190+1_191-1)del
m.4284G>A rs121434468
m.961T>G rs3888511

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