ClinVar Miner

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

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

Total variants with conflicting interpretations: 6577

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_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
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_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
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
NM_001142446.2(ANK1):c.127-39554G>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_000506.5(F2):c.*97G>A rs1799963 0.00979
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_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
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_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
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_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_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_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_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_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_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_004771.4(MMP20):c.954-2A>T rs140213840 0.00224
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
NM_000441.1(SLC26A4):c.-103T>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_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) rs113994094 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_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 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_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_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_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_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_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
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_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_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_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_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_016327.3(UPB1):c.358G>T (p.Ala120Ser) rs138872001 0.00084
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_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_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_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 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_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 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_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 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_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
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(CENPJ):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 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_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 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_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys) rs149039053 0.00049
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 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_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_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_173689.7(CRB2):c.3746G>A (p.Arg1249Gln) rs147412276 0.00045
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_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325 0.00042
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_000144.5(FXN):c.118C>T (p.Arg40Cys) rs145854903 0.00041
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 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_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 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_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_001379610.1(SPINK1):c.198A>C (p.Lys66Asn) rs143014431 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_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_001349884.2(DRAM2):c.737T>C (p.Leu246Pro) rs148031211 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 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_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_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 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_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 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_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_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001395891.1(CLASP1):c.196-562G>A rs370715569 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_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221 0.00024
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 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_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_001385.3(DPYS):c.1469G>A (p.Arg490His) rs189448963 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_012275.3(IL36RN):c.115+6T>C rs148755083 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_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_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_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.489+3A>G rs377729736 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_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 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_001080442.3(SLC38A8):c.388+5G>A rs760391436 0.00014
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 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_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 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_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg) rs118204430 0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000237.3(LPL):c.286G>C (p.Val96Leu) rs373088068 0.00013
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 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_001395891.1(CLASP1):c.196-591C>T rs756026847 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_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_016327.3(UPB1):c.209G>C (p.Arg70Pro) rs121908066 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_031471.6(FERMT3):c.922G>A (p.Gly308Arg) rs748770309 0.00013
NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn) rs121908135 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_015202.5(KATNIP):c.2373del (p.Asp791fs) rs748450705 0.00012
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871 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_020365.5(EIF2B3):c.260C>T (p.Ala87Val) rs113994022 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_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 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_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 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_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 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_014625.4(NPHS2):c.779T>A (p.Val260Glu) rs775006954 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 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_000071.3(CBS):c.770C>T (p.Thr257Met) rs758236584 0.00010
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000161.3(GCH1):c.586G>T (p.Ala196Ser) rs104894436 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.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_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_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.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_003982.4(SLC7A7):c.161G>T (p.Gly54Val) rs121908677 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_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 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_000249.3(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_001126108.2(SLC12A3):c.602-16G>A rs750901478 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_004646.4(NPHS1):c.2335-1G>A rs150038620 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_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_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420 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_025114.4(CEP290):c.4437+1G>A rs760915898 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_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_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 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_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_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 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_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_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 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_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_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 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_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_001042681.2(RERE):c.3466G>A (p.Gly1156Arg) rs766951273 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.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_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_004211.5(SLC6A5):c.1274C>T (p.Thr425Met) rs121908498 0.00006
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys) rs121908494 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_006918.5(SC5D):c.442A>G (p.Lys148Glu) rs775350797 0.00006
NM_007059.4(KPTN):c.394+1G>A rs373139784 0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 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_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 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_031433.4(MFRP):c.642-2A>G rs376898612 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_139076.3(ABRAXAS1):c.1106dup (p.Ser370fs) rs587780262 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_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 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_173483.4(CYP4F22):c.667C>T (p.Gln223Ter) rs199892192 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.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 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_000159.4(GCDH):c.881G>A (p.Arg294Gln) rs775606471 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_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253 0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 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_000500.9(CYP21A2):c.1024C>T (p.Arg342Trp) rs72552755 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_000550.3(TYRP1):c.1226C>T (p.Ala409Val) rs148248971 0.00005
NM_000925.4(PDHB):c.426A>G (p.Ile142Met) rs151247980 0.00005
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) rs387906794 0.00005
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788 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_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_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340 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_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_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_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_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 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_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 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_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053 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.4539+2028C>T rs869320785 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_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 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_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.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_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_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_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_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_002907.4(RECQL):c.426del (p.Met144fs) rs753723230 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_003801.4(GPAA1):c.149T>A (p.Met50Lys) rs200581623 0.00004
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644 0.00004
NM_004273.5(CHST3):c.475T>A (p.Phe159Ile) rs145538723 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_004444.5(EPHB4):c.1054C>T (p.Arg352Ter) rs898898802 0.00004
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421 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_006371.5(CRTAP):c.634C>T (p.Arg212Ter) rs137853944 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_016955.4(SEPSECS):c.846G>A (p.Leu282=) rs146539065 0.00004
NM_017613.4(DONSON):c.1047-9A>G rs779149681 0.00004
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser) rs199622789 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_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.532C>T (p.Arg178Trp) rs398122978 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_032316.3(NICN1):c.*2328C>T rs386833677 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_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 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
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.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_000039.3(APOA1):c.83C>G (p.Pro28Arg) rs121912721 0.00003
NM_000044.6(AR):c.2659A>G (p.Met887Val) rs755226547 0.00003
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro) rs397514441 0.00003
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 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.2668G>A (p.Val890Met) rs786204718 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_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_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.2297A>G (p.Tyr766Cys) rs144016984 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_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00003
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) rs121918176 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_000246.4(CIITA):c.2888+1G>A rs372826934 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_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 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.1093G>A (p.Ala365Thr) rs5030869 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_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 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.14C>T (p.Pro5Leu) rs193922501 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.3208C>T (p.Arg1070Trp) rs202179988 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.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 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.2411T>C (p.Leu804Pro) rs879255203 0.00003
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 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.731C>G (p.Ser244Cys) rs1208667598 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_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 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.288+9C>T rs398123497 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys) rs281875236 0.00003
NM_001005373.4(LRSAM1):c.1913-1G>A rs756880678 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.539C>A (p.Thr180Lys) rs146158333 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_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_001352514.2(HLCS):c.2121+1G>A rs1175936807 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_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter) rs572666403 0.00003
NM_001379659.1(ZNF142):c.5098C>T (p.Arg1700Trp) rs367658234 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 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_003560.4(PLA2G6):c.1187-1G>A rs1477656610 0.00003
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys) rs370691849 0.00003
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp) rs376054085 0.00003
NM_003773.5(HYAL2):c.829C>T (p.Arg277Cys) rs142405670 0.00003
NM_003859.3(DPM1):c.1A>C (p.Met1Leu) rs139624629 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 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_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_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_013382.7(POMT2):c.1006+1G>A rs533916138 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_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_016327.3(UPB1):c.899C>T (p.Ser300Leu) rs762081192 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_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_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_032357.4(CCDC115):c.1A>G (p.Met1Val) rs752919660 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_144499.3(GNAT1):c.904C>T (p.Gln302Ter) rs374913800 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_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590 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_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 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.9842G>T (p.Cys3281Phe) rs727504654 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_001566.1(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.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_000049.4(ASPA):c.237-2A>T rs780936696 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_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888 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.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 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.325G>A (p.Ala109Thr) rs768474112 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.1671-1G>A rs1182103005 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_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 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.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_000335.5(SCN5A):c.612-2A>G rs370438420 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.3385C>T (p.Arg1129Cys) rs779426136 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_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.938C>T (p.Thr313Met) rs894525161 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.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_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 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.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_001012339.3(DNAJC21):c.983+1G>A rs368148362 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_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_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 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_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_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_001395891.1(CLASP1):c.196-672A>G rs863225423 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_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_012120.3(CD2AP):c.1834C>T (p.Arg612Ter) rs267606710 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.2T>C (p.Met1Thr) rs1470124674 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_017534.6(MYH2):c.2725G>T (p.Glu909Ter) rs780124402 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_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_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.208C>T (p.Arg70Ter) rs758304537 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_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_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.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.2251-10T>G rs730881346 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.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.3877G>A (p.Glu1293Lys) rs776300396 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.2250_2251insAAAT (p.Leu751fs) rs786204471 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.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_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 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_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.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_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.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 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.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.1604A>G (p.Tyr535Cys) rs886058900 0.00001
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln) rs774619760 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn) rs1209123501 0.00001
NM_000159.4(GCDH):c.1015A>G (p.Met339Val) rs752234195 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.416C>T (p.Ser139Leu) rs139851890 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.868A>C (p.Met290Leu) rs375538532 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_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.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_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780 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_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 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.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_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.2536G>C (p.Glu846Gln) rs730880748 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_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.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.1378C>T (p.Leu460Phe) rs748692597 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.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_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898 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_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_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 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.4716C>T (p.Gly1572=) rs754221948 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_000335.5(SCN5A):c.689T>C (p.Ile230Thr) rs199473073 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.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.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.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.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_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.574C>T (p.Arg192Cys) rs543277216 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_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_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.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.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.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.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.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_000518.5(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_000527.4(LDLR):c.-120C>T rs875989886 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.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.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.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_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.431del (p.Leu144fs) rs1182353109 0.00001
NM_000530.8(MPZ):c.646-3C>G rs750756212 0.00001
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356 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_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 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.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000540.3(RYR1):c.2293G>C (p.Gly765Arg) rs1380227293 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.529C>T (p.Arg177Cys) rs193922757 0.00001
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly) rs1568484835 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.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826 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.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_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_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 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_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln) rs755975980 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 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.9352G>A (p.Gly3118Arg) rs730880194 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.2998C>T (p.Arg1000Cys) rs367684252 0.00001
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly) rs878853894 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 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_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp) rs431905516 0.00001
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 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_001127208.3(TET2):c.4354C>T (p.Arg1452Ter) rs1049545383 0.00001
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240 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_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_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.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_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) rs745378416 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_001211.6(BUB1B):c.580C>T (p.Arg194Ter) rs28989186 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_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met) rs768140716 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.55432+5G>C rs754717390 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_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.506C>T (p.Ser169Leu) rs80338855 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.11653C>T (p.Arg3885Ter) rs756032160 0.00001
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779 0.00001
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 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_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.40G>A (p.Gly14Ser) rs119103232 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.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.416G>A (p.Arg139His) rs749704755 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_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_001854.4(COL11A1):c.1003G>T (p.Glu335Ter) rs776004614 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_001939.3(DRP2):c.43C>T (p.Arg15Ter) rs756695526 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 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_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.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002887.4(RARS1):c.1414C>T (p.Arg472Ter) rs180760483 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_003280.3(TNNC1):c.91G>A (p.Ala31Thr) rs397514616 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_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830 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.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_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_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.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.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.588A>T (p.Arg196Ser) rs752949191 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_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_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_006005.3(WFS1):c.397G>A (p.Ala133Thr) rs372249044 0.00001
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis) rs777497868 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_006031.6(PCNT):c.6162_6163del (p.Lys2054fs) rs778391726 0.00001
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 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.5361del (p.Cys1788fs) rs752558475 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_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 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_006432.5(NPC2):c.190+5G>A rs80358268 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_006767.4(LZTR1):c.1733_1734del (p.Asn578fs) rs1460026299 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.263+1G>A rs761241914 0.00001
NM_006767.4(LZTR1):c.482del (p.Gln161fs) rs1924462309 0.00001
NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter) rs749437251 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 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_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.1959G>A (p.Trp653Ter) rs770731272 0.00001
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) rs1330112951 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_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_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_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_016222.4(DDX41):c.931C>T (p.Arg311Ter) rs899399494 0.00001
NM_016239.4(MYO15A):c.10263C>G (p.Ile3421Met) rs748246442 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_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_017534.6(MYH2):c.52C>T (p.Arg18Ter) rs769712128 0.00001
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile) rs756953958 0.00001
NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg) rs749110767 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_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_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241 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_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_020458.4(TTC7A):c.2515G>A (p.Ala839Thr) rs202044972 0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys) rs121912816 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 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_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_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222 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_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 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_024818.6(UBA5):c.169A>G (p.Met57Val) rs532178791 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 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_032316.3(NICN1):c.*2325C>T rs753743263 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_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_144573.4(NEXN):c.1171C>T (p.Arg391Ter) rs200106758 0.00001
NM_144991.3(TSPEAR):c.802C>T (p.Arg268Ter) rs782471965 0.00001
NM_145178.4(ATOH7):c.176C>T (p.Ala59Val) rs754494518 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_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894 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_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.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_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.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_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_198282.4(STING1):c.841C>T (p.Arg281Trp) rs750077345 0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736 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_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
NM_213653.4(HJV):c.976C>T (p.Arg326Ter) rs74315324 0.00001
NR_001566.1(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_000002.11:g.(?_191835429)_(192012929_?)del
NC_000002.12:g.(?_47482779)_(47482949_?)del
NC_000004.11:g.(?_186064527)_(187630981_?)del
NC_000018.9:g.77748581_77748614del34 rs535089924
NC_000022.11:g.19721912_19724790del
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1:m.5631G>A rs786200950
NC_012920.1:m.8851T>C rs199476136
NC_012920.1:m.9185T>C rs199476138
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.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.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_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.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_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_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.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.423-1G>A rs397514031
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.423-3_423-2del rs863225354
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.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_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.4741dup (p.Ile1581fs) rs864622164
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.7517_7520del rs587781905
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.1707+2dup rs781531824
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.2755C>T (p.Arg919Trp) rs121907993
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.3446G>C (p.Gly1149Ala) rs1566462533
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.4106C>T (p.Ser1369Leu) rs1555282678
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_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.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>C (p.Asp2723Ala) rs41293513
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.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.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.871A>C (p.Asn291His) rs1057520366
NM_000063.6(C2):c.1102C>T (p.Arg368Ter) rs866130958
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_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1193+6T>A rs1555421532
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.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.632+4A>G rs1555420507
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.3(CBS):c.162G>A (p.Trp54Ter) rs199948079
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_000073.3(CD3G):c.213del (p.Lys71fs) rs570768621
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.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.3424-6C>G rs370865189
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val) rs1131692326
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
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.3546_3548dup (p.Gly1183dup) rs1175052474
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.4538G>A (p.Cys1513Tyr) rs1962651394
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.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_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000104.4(CYP1B1):c.1120G>A (p.Asp374Asn) rs104893622
NM_000111.3(SLC26A3):c.1181G>T (p.Ser394Ile)
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) rs1554095397
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.809del (p.Gly270fs) rs923535659
NM_000126.4(ETFA):c.963+1del rs746488455
NM_000128.4(F11):c.1325del (p.Leu442fs) rs757530565
NM_000129.4(F13A1):c.782G>A (p.Arg261His) rs121913071
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.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.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.4261-2A>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.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.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.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
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.940G>T (p.Ala314Ser) rs1358919643
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
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.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.404A>G (p.His135Arg) rs786202833
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.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_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.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.1388_1405del (p.Arg463_Thr469delinsPro) rs2039192921
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_000154.2(GALK1):c.1012dup (p.Val338fs) rs1555747776
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
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.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_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.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.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.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.899T>C (p.Leu300Pro) rs398123223
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.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
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.3470G>A (p.Gly1157Asp) rs752212361
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.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_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.1370C>T (p.Thr457Met) rs1057517928
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.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000203.5(IDUA):c.1190-10C>A rs1443642527
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu) rs1715210316
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.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_000211.5(ITGB2):c.1264C>T (p.Gln422Ter) rs1568883795
NM_000212.3(ITGB3):c.2231T>C (p.Leu744Pro) rs398122374
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.1121T>A (p.Leu374His) rs199472767
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.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
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.2246G>T (p.Gly749Val) rs199472989
NM_000238.4(KCNH2):c.244_252dup (p.Gln84_Ala85insIleAlaGln) rs794728476
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu) rs199473009
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
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.1500_1502del (p.Ile501del) rs587778920
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
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.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2103+1G>A rs267607888
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.4(MLH1):c.380+2T>C rs267607742
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.67del (p.Glu23fs) rs63750822
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.4(MLH1):c.986A>C (p.His329Pro) rs63750710
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
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.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.2228C>A (p.Ser743Ter) rs63751155
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter) rs63750843
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
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_000256.3(MYBPC3):c.1624+5G>A rs730880691
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.3330+5G>A rs373746463
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.3815-1G>A rs397516044
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.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
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.5302G>A (p.Glu1768Lys) rs397516241
NM_000257.4(MYH7):c.5410G>A (p.Ala1804Thr) rs730880818
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
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.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_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_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_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.619_636del (p.Leu207_Leu212del) rs767489236
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.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_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.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_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000303.3(PMM2):c.203T>G (p.Phe68Cys) rs373788015
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
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.245T>C (p.Leu82Pro) rs878853113
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_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
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.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.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.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.1215+1G>A rs587776783
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_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.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_000335.5(SCN5A):c.1003T>C (p.Cys335Arg) rs2125906059
NM_000335.5(SCN5A):c.2291T>C (p.Met764Thr) rs199473156
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.4296+6T>C rs794728934
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.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.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_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.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_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.1637G>C (p.Ter546Ser) rs1568932096
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.1913G>T (p.Arg638Leu) rs201852643
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_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_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
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.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.1566C>G (p.Cys522Trp)
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
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.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.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_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
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.1460C>T (p.Ala487Val) rs1229517379
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.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.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.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.3107C>T (p.Thr1036Ile) rs397508498
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.3299A>C (p.Gln1100Pro) rs397508535
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.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
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.1398+5G>C rs1563867837
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_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
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.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.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.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.349G>A (p.Val117Met) rs1555889031
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
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.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.-138del rs387906307
NM_000527.4(LDLR):c.-142C>G rs879254370
NM_000527.4(LDLR):c.-152C>T
NM_000527.4(LDLR):c.-172G>A rs1555800629
NM_000527.4(LDLR):c.-187_-185del rs1270618112
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.1061A>G (p.Asp354Gly) rs755449669
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.1252G>A (p.Glu418Lys)
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.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.1745T>C (p.Leu582Pro) rs875989930
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.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.1879G>A (p.Ala627Thr) rs879255066
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.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.293G>T (p.Arg98Leu) rs121913589
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) rs267607241
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.700G>T (p.Glu234Ter) rs1670224976
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.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.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
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_960delGAG rs1064794313
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.11947C>T (p.Arg3983Cys) rs1600989183
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.12532G>A (p.Gly4178Ser) rs1057518885
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.14378T>C (p.Leu4793Pro) rs118192179
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.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.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.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.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.7879G>A (p.Val2627Met) rs914804033
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
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.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.526+5_526+8del rs2135833007
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.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.482_487del (p.Ala161_Tyr163delinsAsp) rs2073376974
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
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.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.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.2197C>G (p.Leu733Val) rs397515163
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_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_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.782TCT[2] (p.Phe263del) rs398123505
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp) rs137852876
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro) rs761996996
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_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys) rs374292194
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) rs777676129
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_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
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.380A>G (p.Lys127Arg) rs1057519201
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_001001557.4(GDF6):c.1287C>A (p.Ser429Arg) rs1554571225
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.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_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001005273.3(CHD3):c.2897G>A (p.Arg966Gln) rs1555611692
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
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.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
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.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_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.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_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_001031725.6(DDX59):c.1600G>A (p.Gly534Arg) rs886037652
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
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_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.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_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.1527+5G>A rs1060500352
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.204+3_204+6del rs1567814632
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.3104T>C (p.Met1035Thr) rs137854553
NM_001042492.3(NF1):c.3113+2T>C rs876658997
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro) rs2067137547
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.4796C>A (p.Ser1599Tyr) rs1555619407
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.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.5609+5G>T rs1597832498
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.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.6818A>G (p.Lys2273Arg) rs1060500344
NM_001042492.3(NF1):c.6820-10T>G rs1597845883
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=) rs1064794756
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.7701dup (p.Lys2568fs) rs1060500295
NM_001042492.3(NF1):c.886A>T (p.Lys296Ter) rs1135402798
NM_001042492.3(NF1):c.888+789A>G rs1597660974
NM_001042492.3(NF1):c.889-2A>G rs878853922
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.1435-2A>T rs1553123105
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)
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.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.320+1G>T rs386833856
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.941A>G (p.Asn314Ser) rs2041315307
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
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_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_001099857.5(IKBKG):c.1117+5G>C rs1557236796
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.1043C>T (p.Ser348Leu) rs886041309
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.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.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.1244dup (p.Pro415_Glu416insTer) rs781843758
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>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001113525.2(ZNF276):c.*474_*481del rs1567591276
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
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_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.889G>A (p.Gly297Arg) rs1168625480
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) rs1382225004
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_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.410del (p.Pro137fs) rs886043342
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.2278G>A (p.Gly760Ser) rs1555488119
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_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met) rs1555663997
NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys)
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_001145809.2(MYH14):c.359C>T (p.Ser120Leu) rs119103281
NM_001148.6(ANK2):c.1937C>T (p.Ser646Phe) rs786205724
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.2252del (p.Pro751fs) rs775034792
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.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.4787G>A (p.Arg1596His) rs575368466
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_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.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.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.2672AGA[1] (p.Lys892del) rs397516636
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_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001199563.2(BVES):c.457C>T (p.Gln153Ter) rs1562137622
NM_001199799.2(ILDR1):c.421G>C (p.Gly141Arg)
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
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_001256007.3(PNPLA8):c.2275_2276del (p.Leu759fs) rs774184465
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.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.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.3735del (p.Lys1245fs) rs752940775
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.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.6664C>T (p.Arg2222Ter) rs773498002
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs) rs756807665
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn) rs1554215979
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_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_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) rs1554169984
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.2549G>A (p.Arg850Gln)
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.4877G>A (p.Arg1626His)
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_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_001354604.2(MITF):c.967del (p.Arg323fs) rs2066400236
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys) rs796052234
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_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.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.196T>A (p.Phe66Ile) rs2070404146
NM_001363118.2(SLC52A2):c.1255G>A (p.Gly419Ser) rs397514658
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_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
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.41_44del (p.Gly14fs) rs1249246307
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_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.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_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.10900C>T (p.Pro3634Ser) rs769053227
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_001378414.1(HDAC4):c.743C>T (p.Pro248Leu) rs1064797002
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_001379403.1(WDR26):c.823-10A>G rs1674395504
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_001384910.1(GUCA1A):c.265G>A (p.Glu89Lys) rs1768015203
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777
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_001397406.1(FDX2):c.1A>T (p.Met1Leu) rs587777600
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.577G>A (p.Ala193Thr) rs387906587
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_001615.4(ACTG2):c.584C>T (p.Thr195Ile) rs1057520694
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) rs1553396458
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_001754.5(RUNX1):c.1412_1413dup (p.Leu472fs) rs1555884790
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_001844.5(COL2A1):c.1023+4A>G rs1939770285
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val) rs1939615464
NM_001844.5(COL2A1):c.1527+4A>C rs2136570708
NM_001844.5(COL2A1):c.1996-9G>A rs2136555221
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.3126del (p.Gly1043fs) rs1268038830
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>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.1360C>T (p.Arg454Trp) rs267607490
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.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_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
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_002107.7(H3-3A):c.271G>C (p.Gly91Arg) rs2102737050
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
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.457-2A>G rs771914739
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
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.70G>T (p.Gly24Trp) rs121909725
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) rs768980918
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_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.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_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.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_002907.4(RECQL):c.120dup (p.Val41fs) rs745659712
NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser) rs2081940708
NM_002968.3(SALL1):c.949C>T (p.Pro317Ser) rs864621971
NM_002979.5(SCP2):c.191_192del (p.Tyr64fs) rs2150121906
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.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.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.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.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_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.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_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln) rs776713955
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_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.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_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_003850.3(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708
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.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.545G>A (p.Arg182Gln) rs2144189607
NM_004048.4(B2M):c.31G>C (p.Ala11Pro) rs104894481
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.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_004360.5(CDH1):c.1679C>G (p.Thr560Arg) rs746481984
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.5600G>A (p.Arg1867Gln) rs1131691326
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
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.7123G>C (p.Gly2375Arg) rs376923069
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys) rs1584667224
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920
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_004643.4(PABPN1):c.35G>C (p.Gly12Ala) rs104894466
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004655.4(AXIN2):c.-12_8del (p.Met1fs) rs768265778
NM_004656.4(BAP1):c.1202_1203del (p.Asp400_Tyr401insTer) rs886058705
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.803CCT[1] (p.Ser269del) rs797044966
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_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_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) rs1569017114
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_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_004990.4(MARS1):c.659del (p.Pro220fs) rs777370844
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs) rs1555166943
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_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_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.208C>T (p.Arg70Trp) rs606231422
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
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.263C>T (p.Pro88Leu) rs782199122
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser) rs121909733
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys) rs121909736
NM_005273.4(GNB2):c.229G>A (p.Gly77Arg) rs1804373189
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_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_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
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_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.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.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_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_005732.4(RAD50):c.1793+4A>C rs863224738
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.221G>A (p.Arg74Gln) rs1566991387
NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter) rs1554055106
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
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_005984.5(SLC25A1):c.205G>T (p.Asp69Tyr) rs2083996886
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
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.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_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_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_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys) rs397517199
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.2091dup (p.Phe699fs) rs752846614
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.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_006267.5(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
NM_006280.3(SSR4):c.417+1G>A rs1057518735
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_006329.4(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
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.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_006493.4(CLN5):c.415T>C (p.Phe139Leu) rs794727507
NM_006494.4(ERF):c.256C>T (p.Arg86Cys) rs587777008
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_006516.4(SLC2A1):c.937T>C (p.Ser313Pro) rs886041633
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.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.1875G>A (p.Met625Ile) rs727502823
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly) rs1753847242
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
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_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.592G>C (p.Val198Leu) rs1555926708
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala) rs2053696720
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_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.132C>T (p.Cys44=) rs876658362
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.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.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.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.5074G>A (p.Asp1692Asn) rs80187739
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.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.5509T>G (p.Trp1837Gly) 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.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.519G>A (p.Met173Ile) rs730881020
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_012318.3(LETM1):c.2220G>C (p.Ter740Tyr) rs2108832865
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter) rs1383727273
NM_012398.3(PIP5K1C):c.662A>G (p.Tyr221Cys) rs991616868
NM_012448.4(STAT5B):c.1924A>C (p.Asn642His) rs938448224
NM_012452.3(TNFRSF13B):c.350_356del (p.Glu117fs) rs1293048695
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs) rs769220870
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.7607G>A (p.Arg2536Gln) rs2033511172
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_014264.5(PLK4):c.2209_2210del (p.Glu737fs)
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_014516.4(CNOT3):c.732del (p.Ser245fs) rs753475896
NM_014585.6(SLC40A1):c.697C>G (p.Leu233Val) rs186912553
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_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_014849.5(SV2A):c.865C>T (p.Arg289Ter)
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.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.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.1603C>T (p.Arg535Ter) rs2148733237
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_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.6407G>A (p.Arg2136His) rs121434378
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_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_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512
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_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.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_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_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.10247CCT[1] (p.Ser3417del) rs760069953
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) rs749465098
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
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_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.4360C>T (p.Gln1454Ter)
NM_017534.6(MYH2):c.4352del (p.Lys1451fs) rs757195322
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
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_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
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_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.228-16C>A rs778731200
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_018426.3(TMEM63B):c.130G>A (p.Val44Met)
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) rs587777302
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_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_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_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
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_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 (p.Arg261Leu) rs1563982307
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.1421G>A (p.Arg474His)
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_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_020975.6(RET):c.2735G>C (p.Arg912Pro) rs78347871
NM_020975.6(RET):c.2752A>G (p.Met918Val) rs377767442
NM_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
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.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_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021930.6(RINT1):c.310C>T (p.Arg104Ter) rs777242801
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_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.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.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.788_789del (p.Thr263fs) rs1756282703
NM_022464.5(SIL1):c.1030-18G>A
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
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_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_024426.6(WT1):c.1349A>G (p.His450Arg) rs1851851609
NM_024426.6(WT1):c.1354+5G>A rs2132919246
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_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.18G>T (p.Gly6=) rs587782462
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_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_025077.4(TOE1):c.940_941del (p.Gln314fs) rs780563835
NM_025114.4(CEP290):c.4704+1G>T rs1565835538
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_025243.4(SLC19A3):c.1154T>G (p.Leu385Arg) rs563607795
NM_030632.3(ASXL3):c.4462_4465del (p.Thr1488fs) rs1599574018
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly) rs1565941025
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
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_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471
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_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
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_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_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_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_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_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg) rs2084286911
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_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) rs1951433087
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_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.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.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr) rs1037991711
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_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
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_145064.3(STAC3):c.432+4A>T rs751033943
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys) rs932713001
NM_145331.3(MAP3K7):c.1535C>T (p.Pro512Leu) rs886039230
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.5908+2dup rs587777381
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
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_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_152783.5(D2HGDH):c.1123G>T (p.Asp375Tyr) rs267606759
NM_152906.7(TANGO2):c.59T>G (p.Leu20Arg) rs1191958022
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro) rs104894605
NM_153033.5(KCTD7):c.335G>A (p.Arg112His) rs774026720
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.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1488+1G>A rs267607640
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.1057C>T (p.Arg353Cys) rs118192218
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_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.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.200G>A (p.Arg67Gln) rs1555813319
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.885del (p.Gly296fs) rs398124599
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541
NM_183065.4(TMEM107):c.*617C>T rs117735243
NM_183065.4(TMEM107):c.*634C>T rs545394298
NM_183065.4(TMEM107):c.*718G>A rs201686383
NM_183065.4(TMEM107):c.*745C>G rs746503581
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_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter) rs768415785
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_198880.3(QRICH1):c.2216G>A (p.Trp739Ter) rs2106802170
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu) rs587780341
NM_198904.4(GABRG2):c.1360C>T (p.Arg454Trp) rs796052515
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.919T>G (p.Leu307Val) rs796052509
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp) rs796052510
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)
NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)
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.112C>T (p.Gln38Ter) rs776566319
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_205861.3(DHDDS):c.110G>A (p.Arg37His) rs1553121073
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.12094G>A (p.Gly4032Arg) rs908265742
NM_206933.4(USH2A):c.12104C>T (p.Pro4035Leu)
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.486-1G>C rs876657730
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
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_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
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.116C>T rs199422272
NR_001566.1(TERC):n.374_1194del821 rs1553915517
NR_001566.1(TERC):n.410C>G rs199422286
NR_003051.4(RMRP):n.184G>A rs1554651153
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.13708G>A rs28359178
m.15257G>A rs41518645
m.4216T>C rs1599988
m.4284G>A rs121434468
m.4336T>C rs41456348
m.8342G>A rs118192103
m.961T>G rs3888511

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.