ClinVar Miner

List of variants reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 4371
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp) rs137852860 0.00490
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000065.5(C6):c.1138del (p.Gln380fs) rs375762365 0.00206
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00156
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu) rs72549326 0.00149
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_031307.4(PUS3):c.-47+3170T>C rs104894232 0.00103
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs) rs386833873 0.00089
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_201548.5(CERKL):c.375C>G (p.Cys125Trp) rs200711686 0.00084
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759 0.00069
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_022356.4(P3H1):c.1080+1G>T rs72659351 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) rs137852695 0.00061
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00047
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_001735.3(C5):c.55C>T (p.Gln19Ter) rs121909587 0.00043
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_001015878.2(AURKC):c.744C>G (p.Tyr248Ter) rs55658999 0.00040
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_003982.4(SLC7A7):c.895-2A>T rs146582474 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_000048.4(ASL):c.532G>A (p.Val178Met) rs28941473 0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) rs104894658 0.00033
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg) rs140950220 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466 0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819 0.00032
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter) rs147837686 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538 0.00031
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter) rs376963628 0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) rs121434367 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_004562.3(PRKN):c.101_102del (p.Gln34fs) rs55777503 0.00027
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro) rs121434373 0.00026
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs) rs72549380 0.00024
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00024
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter) rs147948835 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) rs28937879 0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000406.3(GNRHR):c.416G>A (p.Arg139His) rs104893842 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs) rs771816857 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter) rs72650699 0.00019
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) rs201747279 0.00019
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) rs142859678 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs) rs397515338 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760 0.00018
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354 0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_001735.3(C5):c.4426C>T (p.Arg1476Ter) rs121909588 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_000549.5(TSHB):c.373del (p.Cys125fs) rs755485552 0.00017
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter) rs180671269 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_006214.4(PHYH):c.135-2A>G rs201578674 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000157.4(GBA1):c.222_224del (p.Thr75del) rs761621516 0.00016
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) rs28941783 0.00016
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_004562.3(PRKN):c.337_376del (p.Pro113fs) rs771529549 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00015
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574 0.00015
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 0.00015
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_001199251.3(SGO1):c.67A>G (p.Lys23Glu) rs199815268 0.00015
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551 0.00015
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 0.00014
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter) rs121913015 0.00014
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_000666.3(ACY1):c.575dup (p.Ser192fs) rs770702363 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp) rs121908083 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_012079.6(DGAT1):c.751+2T>C rs148665132 0.00014
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs) rs762606406 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591 0.00013
NM_000312.4(PROC):c.889G>C (p.Asp297His) rs199469471 0.00013
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_004482.4(GALNT3):c.516-2A>T rs761396172 0.00013
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter) rs138923214 0.00013
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs) rs765970053 0.00013
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys) rs373899077 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) rs121912646 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_005535.3(IL12RB1):c.94C>T (p.Gln32Ter) rs121434492 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_017947.4(MOCOS):c.1255C>T (p.Arg419Ter) rs142150953 0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_152783.5(D2HGDH):c.685-2A>G rs753528947 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter) rs200451408 0.00010
NM_001206744.2(TPO):c.2422del (p.Cys808fs) rs763662774 0.00010
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530 0.00010
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter) rs144411158 0.00010
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter) rs146195866 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530 0.00009
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109 0.00009
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter) rs121909136 0.00009
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) rs119481075 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) rs121908686 0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu) rs121434410 0.00009
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869 0.00009
NM_014140.4(SMARCAL1):c.2070+2dup rs762716070 0.00009
NM_020533.3(MCOLN1):c.406-2A>G rs104886461 0.00009
NM_021871.4(FGA):c.510+1G>T rs146387238 0.00009
NM_021957.4(GYS2):c.495+1G>T rs372079212 0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
NM_022445.4(TPK1):c.501+4A>T rs375169579 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs) rs730882143 0.00009
NM_144585.4(SLC22A12):c.269G>A (p.Arg90His) rs121907896 0.00009
NM_144773.4(PROKR2):c.491G>A (p.Arg164Gln) rs751875578 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_207581.4(DUOXA2):c.413dup (p.Tyr138Ter) rs778410503 0.00009
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000085.5(CLCNKB):c.508G>A (p.Val170Met) rs202064075 0.00008
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer) rs756016704 0.00008
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) rs199472885 0.00008
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) rs373901523 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter) rs368260932 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001289104.2(PRKCSH):c.762+2T>C rs112915100 0.00008
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) rs138958917 0.00008
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_003041.4(SLC5A2):c.500del (p.Gln167fs) rs267607067 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) rs387906355 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_014844.5(TECPR2):c.1319del (p.Leu440fs) rs750908377 0.00008
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) rs752924362 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) rs121434278 0.00007
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) rs180819807 0.00007
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933 0.00007
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) rs201502095 0.00007
NM_000349.3(STAR):c.64+1G>T rs765968701 0.00007
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000781.3(CYP11A1):c.835del (p.Ile279fs) rs757299093 0.00007
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_001349206.2(LPIN1):c.1270C>T (p.Arg424Ter) rs119480072 0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_006302.3(MOGS):c.370C>T (p.Gln124Ter) rs587777323 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548 0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236 0.00007
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875 0.00006
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527 0.00006
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037 0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000071.3(CBS):c.572C>T (p.Thr191Met) rs121964973 0.00006
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00006
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter) rs201781905 0.00006
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=) rs201728948 0.00006
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138 0.00006
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg) rs886054247 0.00006
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs) rs387906315 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000187.4(HGD):c.365C>T (p.Ala122Val) rs544956641 0.00006
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) rs120074174 0.00006
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680 0.00006
NM_000237.3(LPL):c.835C>G (p.Leu279Val) rs371282890 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000270.4(PNP):c.172C>T (p.Arg58Ter) rs104894460 0.00006
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) rs137852696 0.00006
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410 0.00006
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter) rs201190064 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter) rs368615054 0.00006
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00006
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572 0.00006
NM_001384732.1(CPLANE1):c.2377C>T (p.Gln793Ter) rs776886962 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_003124.5(SPR):c.448A>G (p.Arg150Gly) rs104893665 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003742.4(ABCB11):c.2012-8T>G rs769910565 0.00006
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) rs397515458 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099 0.00006
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly) rs141952252 0.00006
NM_014140.4(SMARCAL1):c.1190del (p.Leu397fs) rs766291662 0.00006
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00006
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter) rs140800288 0.00006
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) rs140039128 0.00006
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_015386.3(COG4):c.1840G>T (p.Glu614Ter) rs1048764460 0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter) rs730882150 0.00006
NM_017570.5(OPLAH):c.313_316del (p.Arg105fs) rs782750497 0.00006
NM_018122.5(DARS2):c.396+2T>G rs759123043 0.00006
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter) rs138320978 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs) rs387906343 0.00006
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs) rs863223926 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_153240.5(NPHP3):c.958-2A>G rs780148543 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) rs119466002 0.00006
NM_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NR_003051.4(RMRP):n.264G>T rs727502774 0.00006
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000 0.00005
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 0.00005
NM_000098.3(CPT2):c.98del (p.Gln33fs) rs917744011 0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr) rs757033996 0.00005
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101 0.00005
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter) rs104894172 0.00005
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) rs104894085 0.00005
NM_000387.6(SLC25A20):c.532C>T (p.Arg178Ter) rs778220325 0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000486.6(AQP2):c.559C>T (p.Arg187Cys) rs104894328 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001010892.3(RSPH4A):c.1351C>T (p.Gln451Ter) rs750528020 0.00005
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_001126108.2(SLC12A3):c.2037+1G>A rs775799617 0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663 0.00005
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter) rs184722374 0.00005
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs) rs72664233 0.00005
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro) rs121909394 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_001378609.3(OTOGL):c.975del (p.Leu325fs) rs766753922 0.00005
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter) rs121908886 0.00005
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp) rs113994068 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) rs1269514277 0.00005
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937 0.00005
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs) rs1368105372 0.00005
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961 0.00005
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731 0.00005
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_080916.3(DGUOK):c.591G>A (p.Gln197=) rs748597500 0.00005
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595 0.00005
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000048.4(ASL):c.649C>T (p.Arg217Ter) rs369879957 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518 0.00004
NM_000085.5(CLCNKB):c.274C>T (p.Arg92Trp) rs777305169 0.00004
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter) rs759372918 0.00004
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00004
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205 0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_000187.4(HGD):c.16-1G>A rs397515347 0.00004
NM_000187.4(HGD):c.359G>T (p.Cys120Phe) rs752153829 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000204.5(CFI):c.1429+1G>C rs368555424 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000229.2(LCAT):c.321C>A (p.Tyr107Ter) rs121908055 0.00004
NM_000229.2(LCAT):c.440C>T (p.Thr147Ile) rs121908050 0.00004
NM_000235.4(LIPA):c.193C>T (p.Arg65Ter) rs779712562 0.00004
NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter) rs886082025 0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251 0.00004
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) rs727504022 0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399 0.00004
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) rs761477436 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724 0.00004
NM_000285.4(PEPD):c.550C>T (p.Arg184Ter) rs375391662 0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.640-15479C>T rs1258107584 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106 0.00004
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743 0.00004
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000376.3(VDR):c.217C>T (p.Arg73Ter) rs980041568 0.00004
NM_000379.4(XDH):c.2164A>T (p.Lys722Ter) rs72549367 0.00004
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) rs121912442 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978 0.00004
NM_000517.6(HBA2):c.96-2A>G rs41457746 0.00004
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 0.00004
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_001003841.3(SLC6A19):c.718C>T (p.Arg240Ter) rs121434347 0.00004
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter) rs587780082 0.00004
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00004
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met) rs371443644 0.00004
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln) rs1274973729 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700 0.00004
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794 0.00004
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701 0.00004
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs) rs67791546 0.00004
NM_001177316.2(SLC34A3):c.304+2T>C rs201293634 0.00004
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) rs556400964 0.00004
NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter) rs777678022 0.00004
NM_001206744.2(TPO):c.2268dup (p.Glu757Ter) rs770781635 0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter) rs746877433 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) rs563610095 0.00004
NM_001379270.1(CNGA1):c.253del (p.Leu85fs) rs749012133 0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter) rs150242262 0.00004
NM_001386140.1(MTTP):c.1867+1G>A rs764189338 0.00004
NM_001395413.1(POR):c.723-2A>T rs782343026 0.00004
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386 0.00004
NM_003172.4(SURF1):c.240+1G>T rs781948238 0.00004
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_003907.3(EIF2B5):c.241G>A (p.Glu81Lys) rs113994047 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter) rs121918286 0.00004
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493 0.00004
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter) rs201452975 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln) rs754980119 0.00004
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_012193.4(FZD4):c.313A>G (p.Met105Val) rs80358284 0.00004
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) rs370907055 0.00004
NM_014140.4(SMARCAL1):c.863-2A>G rs761546902 0.00004
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp) rs28940289 0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val) rs780761368 0.00004
NM_014780.5(CUL7):c.2164C>T (p.Arg722Ter) rs886042376 0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) rs267606829 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) rs587778819 0.00004
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter) rs199910503 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491 0.00004
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) rs748011724 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter) rs377046630 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025137.4(SPG11):c.1348dup (p.Ile450fs) rs312262725 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_031885.5(BBS2):c.534+1G>T rs773862084 0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) rs34208370 0.00004
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer) rs751539473 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) rs267606764 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs) rs749240175 0.00004
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_182961.4(SYNE1):c.15918-12A>G rs606231134 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) rs398123072 0.00003
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000070.3(CAPN3):c.1993-1G>A rs369552114 0.00003
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) rs771298943 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000091.5(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887 0.00003
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter) rs141597515 0.00003
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) rs773905328 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686 0.00003
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) rs370421531 0.00003
NM_000159.4(GCDH):c.1244-2A>C rs199999619 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000170.3(GLDC):c.2665+1G>C rs149070244 0.00003
NM_000187.4(HGD):c.688C>T (p.Pro230Ser) rs28942100 0.00003
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967 0.00003
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) rs199472709 0.00003
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) rs747916314 0.00003
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791 0.00003
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066 0.00003
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256 0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278 0.00003
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872 0.00003
NM_000274.4(OAT):c.596C>A (p.Pro199Gln) rs267606925 0.00003
NM_000275.3(OCA2):c.157del (p.Arg53fs) rs758894409 0.00003
NM_000277.3(PAH):c.136G>A (p.Gly46Ser) rs74603784 0.00003
NM_000277.3(PAH):c.2T>C (p.Met1Thr) rs62508575 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.464G>A (p.Arg155His) rs199475663 0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939 0.00003
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000303.3(PMM2):c.640-9T>G rs370160676 0.00003
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408 0.00003
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000348.4(SRD5A2):c.548-2A>C rs61750397 0.00003
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) rs104894090 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000380.4(XPA):c.331G>T (p.Glu111Ter) rs769255883 0.00003
NM_000384.3(APOB):c.10238del (p.Thr3413fs) rs756209187 0.00003
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812 0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373 0.00003
NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys) rs376993881 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000486.6(AQP2):c.277C>T (p.Gln93Ter) rs770810694 0.00003
NM_000492.4(CFTR):c.1680-886A>G rs397508266 0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) rs121908761 0.00003
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000537.4(REN):c.127C>T (p.Arg43Ter) rs397514690 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.2681+1G>A rs201201443 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter) rs1567200098 0.00003
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) rs118204031 0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) rs121909523 0.00003
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His) rs147901432 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro) rs780594361 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His) rs63751001 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) rs63750622 0.00003
NM_001171.6(ABCC6):c.4104del (p.Asp1368fs) rs72664237 0.00003
NM_001177316.2(SLC34A3):c.671del (p.Leu224fs) rs755196320 0.00003
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter) rs777248758 0.00003
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter) rs750345068 0.00003
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_001374828.1(ARID1B):c.1987-29738G>T rs201653711 0.00003
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter) rs768620276 0.00003
NM_001698.3(AUH):c.589C>T (p.Arg197Ter) rs121434636 0.00003
NM_001927.4(DES):c.226del (p.Thr76fs) rs1399282762 0.00003
NM_002354.3(EPCAM):c.556-14A>G rs376155665 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887 0.00003
NM_004646.4(NPHS1):c.3481+1G>T rs142883811 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter) rs1057516374 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter) rs143064649 0.00003
NM_006073.4(TRDN):c.22+29A>G rs774068079 0.00003
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) rs121917843 0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) rs775380378 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs) rs80357914 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter) rs778055996 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_014967.5(FAN1):c.2616del (p.Asp873fs) rs750056424 0.00003
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter) rs118204049 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_015665.6(AAAS):c.1191dup (p.Glu398fs) rs746305979 0.00003
NM_015665.6(AAAS):c.1331+1G>A rs150511103 0.00003
NM_016180.5(SLC45A2):c.957C>A (p.Tyr319Ter) rs200122644 0.00003
NM_016356.5(DCDC2):c.349-2A>G rs760040426 0.00003
NM_017662.5(TRPM6):c.3694del (p.Gln1232fs) rs1179034156 0.00003
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019 0.00003
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002 0.00003
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122 0.00003
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373 0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147 0.00003
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter) rs1292534396 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly) rs121917822 0.00003
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271 0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_024649.5(BBS1):c.724-1G>C rs748523268 0.00003
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter) rs374877315 0.00003
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_031433.4(MFRP):c.1090_1091del (p.Thr364fs) rs763385432 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter) rs796052086 0.00003
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs) rs765209037 0.00003
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile) rs121908470 0.00003
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp) rs118203979 0.00003
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) rs182135982 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_182758.4(WDR72):c.1467_1468del (p.Val491fs) rs606231462 0.00003
NM_198282.4(STING1):c.463G>A (p.Val155Met) rs587777610 0.00003
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856 0.00003
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927 0.00003
NM_199242.3(UNC13D):c.753+1G>T rs201908137 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206965.2(FTCD):c.763C>T (p.Arg255Ter) rs140217223 0.00003
NM_000016.6(ACADM):c.244dup (p.Trp82fs) rs786204566 0.00002
NM_000018.4(ACADVL):c.1679-6G>A rs113994171 0.00002
NM_000026.4(ADSL):c.802G>A (p.Asp268Asn) rs746501563 0.00002
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157 0.00002
NM_000046.5(ARSB):c.1143-1G>C rs431905495 0.00002
NM_000048.4(ASL):c.447-1G>A rs778254333 0.00002
NM_000048.4(ASL):c.557G>A (p.Arg186Gln) rs752397242 0.00002
NM_000048.4(ASL):c.637C>T (p.Arg213Ter) rs761651320 0.00002
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg) rs761064915 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000085.5(CLCNKB):c.782-2A>G rs779908241 0.00002
NM_000091.5(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000092.5(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109 0.00002
NM_000092.5(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597 0.00002
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803 0.00002
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter) rs761927109 0.00002
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg) rs367833709 0.00002
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln) rs750470654 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771 0.00002
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 0.00002
NM_000187.4(HGD):c.342+1G>T rs397515518 0.00002
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075 0.00002
NM_000198.4(HSD3B2):c.15C>A (p.Cys5Ter) rs766474996 0.00002
NM_000198.4(HSD3B2):c.867del (p.Met290fs) rs767167623 0.00002
NM_000228.3(LAMB3):c.1132+5G>A rs770302956 0.00002
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584 0.00002
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899 0.00002
NM_000303.3(PMM2):c.255+1G>A rs1060499598 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000338.3(SLC12A1):c.3164+1G>A rs756057922 0.00002
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742 0.00002
NM_000341.4(SLC3A1):c.1500+1G>T rs886042834 0.00002
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) rs121912748 0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) rs72547566 0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051 0.00002
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs) rs886041297 0.00002
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter) rs758775001 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_000441.2(SLC26A4):c.1149+3A>G rs111033314 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) rs587782681 0.00002
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys) rs138690664 0.00002
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) rs1375757476 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) rs139573311 0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) rs77284892 0.00002
NM_000492.4(CFTR):c.274-1G>A rs121908792 0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) rs78802634 0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) rs36210737 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) rs80282562 0.00002
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) rs28934586 0.00002
NM_000498.3(CYP11B2):c.954G>A (p.Thr318=) rs760329766 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803 0.00002
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) rs201550531 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) rs121908446 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter) rs988715134 0.00002
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) rs72551319 0.00002
NM_000789.4(ACE):c.2371C>T (p.Arg791Ter) rs397514689 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe) rs765561257 0.00002
NM_001083961.2(WDR62):c.1941C>A (p.Cys647Ter) rs769688376 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992 0.00002
NM_001126108.2(SLC12A3):c.2717_2720dup (p.His907fs) rs750735794 0.00002
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs) rs1445681647 0.00002
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138 0.00002
NM_001171.6(ABCC6):c.2248-2_2248-1del rs111113624 0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457 0.00002
NM_001244710.2(GFPT1):c.686-2A>G rs1011196447 0.00002
NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter) rs770403610 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys) rs1028371920 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) rs121918233 0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696 0.00002
NM_001363711.2(DUOX2):c.2101C>T (p.Arg701Ter) rs201109959 0.00002
NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter) rs751184319 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063 0.00002
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter) rs766699868 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_001692.4(ATP6V1B1):c.585+1G>A rs782723581 0.00002
NM_002185.5(IL7R):c.221+2T>G rs200044623 0.00002
NM_002292.4(LAMB2):c.1477del (p.Cys493fs) rs969481454 0.00002
NM_002299.4(LCT):c.3535C>T (p.Gln1179Ter) rs749118441 0.00002
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter) rs375908206 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002617.4(PEX10):c.600+1G>A rs267608183 0.00002
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter) rs587781756 0.00002
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) rs386134210 0.00002
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter) rs386134212 0.00002
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819 0.00002
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter) rs104893668 0.00002
NM_003982.4(SLC7A7):c.545dup (p.Val183fs) rs386833818 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val) rs200584793 0.00002
NM_004482.4(GALNT3):c.892del (p.Tyr298fs) rs762936774 0.00002
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173 0.00002
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter) rs386833953 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter) rs772468452 0.00002
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter) rs368980595 0.00002
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter) rs772357412 0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733 0.00002
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter) rs768050261 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_012120.3(CD2AP):c.250C>T (p.Arg84Ter) rs368795308 0.00002
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) rs180177316 0.00002
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys) rs149753643 0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300 0.00002
NM_014208.3(DSPP):c.2525del (p.Ser842fs) rs1395922945 0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) rs745656120 0.00002
NM_014625.4(NPHS2):c.506T>C (p.Leu169Pro) rs762336297 0.00002
NM_015102.5(NPHP4):c.3272del (p.Val1091fs) rs1278089386 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826 0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_016360.4(TACO1):c.421C>T (p.Arg141Ter) rs765093638 0.00002
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) rs756762196 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln) rs397515421 0.00002
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019109.5(ALG1):c.1187+1G>A rs374928784 0.00002
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675 0.00002
NM_020632.3(ATP6V0A4):c.2308C>T (p.Arg770Ter) rs754517968 0.00002
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733 0.00002
NM_021871.4(FGA):c.502C>T (p.Arg168Ter) rs755117226 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024312.5(GNPTAB):c.2715+2T>G rs281865001 0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_024685.4(BBS10):c.1244del (p.His415fs) rs760642305 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_025074.7(FRAS1):c.3010+1G>A rs574631014 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403 0.00002
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter) rs770126103 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter) rs762047808 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_032119.4(ADGRV1):c.17062C>T (p.Arg5688Ter) rs747622607 0.00002
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter) rs199807227 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106 0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_138694.4(PKHD1):c.390+1G>T rs752327566 0.00002
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys) rs777999875 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00002
NM_152419.3(HGSNAT):c.372-2A>G rs483352896 0.00002
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961 0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs) rs773760404 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_178170.3(NEK8):c.379C>T (p.Arg127Ter) rs752792782 0.00002
NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter) rs587783652 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) rs939534674 0.00002
NM_213655.5(WNK1):c.3226C>T (p.Arg1076Ter) rs111033591 0.00002
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000023.4(SGCA):c.157+1G>A rs113109898 0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) rs750614500 0.00001
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161 0.00001
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) rs180177246 0.00001
NM_000030.3(AGXT):c.777-1G>C rs180177267 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935 0.00001
NM_000045.4(ARG1):c.57+1G>A rs587776539 0.00001
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) rs104893944 0.00001
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) rs1299207831 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000048.4(ASL):c.602+1G>A rs398123127 0.00001
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8988-1G>C rs730881386 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000053.4(ATP7B):c.1708-1G>C rs137853280 0.00001
NM_000053.4(ATP7B):c.1746dup (p.Glu583fs) rs1566559605 0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402 0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) rs768671894 0.00001
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) rs777629392 0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679 0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) rs80359541 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 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.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp) rs863224957 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter) rs878854364 0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met) rs372010465 0.00001
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000082.4(ERCC8):c.1042-2A>G rs372237310 0.00001
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter) rs370657735 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs) rs775637637 0.00001
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter) rs370985865 0.00001
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642 0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745 0.00001
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu) rs375290088 0.00001
NM_000091.5(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513 0.00001
NM_000092.5(COL4A4):c.1145G>C (p.Gly382Ala) rs751952236 0.00001
NM_000092.5(COL4A4):c.1856G>A (p.Gly619Asp) rs374340855 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.4449_4450dup (p.Met1484fs) rs761200469 0.00001
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter) rs368007918 0.00001
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665 0.00001
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904 0.00001
NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter) rs751535193 0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329 0.00001
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs) rs1557719455 0.00001
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) rs74315293 0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226 0.00001
NM_000101.4(CYBA):c.287+2T>C rs747774702 0.00001
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) rs61754278 0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135 0.00001
NM_000104.4(CYP1B1):c.55C>T (p.Gln19Ter) rs72549388 0.00001
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter) rs146170505 0.00001
NM_000124.4(ERCC6):c.2830-2A>G rs373227647 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000128.4(F11):c.841C>T (p.Gln281Ter) rs770505620 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu) rs1472169963 0.00001
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821 0.00001
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter) rs121913120 0.00001
NM_000151.4(G6PC1):c.231-1G>A rs1555559279 0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485 0.00001
NM_000152.5(GAA):c.1076-1G>C rs1555600050 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395 0.00001
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) rs1030961946 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) rs369532274 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754 0.00001
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572 0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695 0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) rs80356769 0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000157.4(GBA1):c.595_596del (p.Leu199fs) rs749714463 0.00001
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter) rs1009850780 0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) rs1064644 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) rs749452002 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln) rs28935493 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.679C>T (p.Arg227Ter) rs104894841 0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter) rs386833531 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000171.4(GLRA1):c.22C>T (p.Arg8Ter) rs1296531416 0.00001
NM_000179.3(MSH6):c.220G>T (p.Gly74Ter) rs1553408388 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter) rs63750955 0.00001
NM_000183.3(HADHB):c.254+1G>A rs776172237 0.00001
NM_000187.4(HGD):c.1078G>C (p.Gly360Arg) rs368717991 0.00001
NM_000187.4(HGD):c.674G>A (p.Arg225His) rs562853291 0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) rs886077189 0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000196.4(HSD11B2):c.623G>A (p.Arg208His) rs28934592 0.00001
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter) rs148200568 0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755 0.00001
NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter) rs1011307501 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) rs199472697 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter) rs120074186 0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) rs118204068 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303 0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825 0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936 0.00001
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) rs535411418 0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) rs121918257 0.00001
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778 0.00001
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818 0.00001
NM_000255.4(MMUT):c.753+1G>A rs1028877309 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) rs782694195 0.00001
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715 0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) rs139751448 0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.169-2A>G rs1226613045 0.00001
NM_000277.3(PAH):c.193A>G (p.Ile65Val) rs199475643 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.441+5G>T rs62507321 0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647 0.00001
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927 0.00001
NM_000277.3(PAH):c.653G>T (p.Gly218Val) rs62514933 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.842+3G>C rs62507324 0.00001
NM_000277.3(PAH):c.889C>T (p.Arg297Cys) rs62642945 0.00001
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter) rs970768801 0.00001
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.1094+1G>A rs58606740 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.1898+5G>A rs1553926929 0.00001
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter) rs1276594505 0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) rs369678636 0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543 0.00001
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln) rs145877597 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000312.4(PROC):c.659G>A (p.Arg220Gln) rs121918153 0.00001
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) rs137852704 0.00001
NM_000336.3(SCNN1B):c.648dup (p.Glu217fs) rs747116196 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000341.4(SLC3A1):c.1699_1700del (p.Arg567fs) rs777575410 0.00001
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) rs779502629 0.00001
NM_000349.3(STAR):c.229C>T (p.Gln77Ter) rs781281145 0.00001
NM_000349.3(STAR):c.577C>T (p.Arg193Ter) rs387907235 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038 0.00001
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263 0.00001
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys) rs751279984 0.00001
NM_000352.6(ABCC8):c.1630+1G>T rs773306994 0.00001
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp) rs201682634 0.00001
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys) rs781617345 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter) rs886041250 0.00001
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter) rs367699137 0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000379.4(XDH):c.2274del (p.Glu760fs) rs760186813 0.00001
NM_000379.4(XDH):c.682C>T (p.Arg228Ter) rs119460972 0.00001
NM_000384.3(APOB):c.1315C>T (p.Arg439Ter) rs142066904 0.00001
NM_000384.3(APOB):c.409G>T (p.Glu137Ter) rs766243954 0.00001
NM_000387.6(SLC25A20):c.496C>T (p.Arg166Ter) rs151340616 0.00001
NM_000388.4(CASR):c.166G>T (p.Glu56Ter) rs1358793834 0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939 0.00001
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957 0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) rs74315302 0.00001
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) rs758439420 0.00001
NM_000404.4(GLB1):c.1480-2A>G rs587776526 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000406.3(GNRHR):c.401T>G (p.Val134Gly) rs188272653 0.00001
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs) rs1433071073 0.00001
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000440.3(PDE6A):c.1407+1G>C rs781616522 0.00001
NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp) rs759589388 0.00001
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) rs750055861 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 0.00001
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) rs757797994 0.00001
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) rs587781707 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939 0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209 0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) rs121918000 0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722 0.00001
NM_000478.6(ALPL):c.88C>T (p.Arg30Ter) rs1057516334 0.00001
NM_000483.5(APOC2):c.274C>T (p.Gln92Ter) rs199563828 0.00001
NM_000485.3(APRT):c.1A>G (p.Met1Val) rs930107496 0.00001
NM_000485.3(APRT):c.259C>T (p.Arg87Ter) rs3169258 0.00001
NM_000485.3(APRT):c.294G>A (p.Trp98Ter) rs104894507 0.00001
NM_000487.6(ARSA):c.684+1G>A rs146371968 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) rs74315473 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe) rs121909017 0.00001
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter) rs77101217 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter) rs397508378 0.00001
NM_000492.4(CFTR):c.273+1G>A rs121908791 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter) rs121908763 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr) rs121908802 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000498.3(CYP11B2):c.240-2A>G rs1442525444 0.00001
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 0.00001
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536 0.00001
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter) rs398123439 0.00001
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959 0.00001
NM_000518.5(HBB):c.92+2T>C rs33956879 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000520.6(HEXA):c.805+1G>C rs121907980 0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283 0.00001
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000537.4(REN):c.145C>T (p.Arg49Ter) rs121917741 0.00001
NM_000540.3(RYR1):c.14130-2A>G rs1457662393 0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter) rs1305971341 0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter) rs1365856881 0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg) rs750779804 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
NM_000549.5(TSHB):c.162+5G>A rs868637545 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000553.6(WRN):c.3384-1G>A rs776963381 0.00001
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) rs765367405 0.00001
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419 0.00001
NM_000642.3(AGL):c.276del (p.Gln92fs) rs1057517243 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.595C>T (p.Gln199Ter) rs780694207 0.00001
NM_000781.3(CYP11A1):c.358del (p.Arg120fs) rs1287871034 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_000939.4(POMC):c.-11C>A rs753856820 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter) rs1183899324 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001038.6(SCNN1A):c.574del (p.Arg192fs) rs767638989 0.00001
NM_001041.4(SI):c.3229C>T (p.Arg1077Ter) rs1000661675 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615 0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 0.00001
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577 0.00001
NM_001080.3(ALDH5A1):c.1015-2A>C rs769111673 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001081.4(CUBN):c.1865del (p.Thr622fs) rs386833771 0.00001
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter) rs759203841 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001122769.3(LCA5):c.795T>G (p.Tyr265Ter) rs1453987164 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr) rs781137708 0.00001
NM_001126108.2(SLC12A3):c.2633+1G>A rs778455414 0.00001
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter) rs781209989 0.00001
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met) rs267607050 0.00001
NM_001126108.2(SLC12A3):c.506-1G>A rs201555148 0.00001
NM_001126108.2(SLC12A3):c.741+1G>A rs1187506921 0.00001
NM_001127671.2(LIFR):c.325G>T (p.Glu109Ter) rs1746736672 0.00001
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs) rs1156805286 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_001142800.2(EYS):c.3164+1G>A rs1029564423 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter) rs267607136 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter) rs747179265 0.00001
NM_001164508.2(NEB):c.37-1G>A rs1428597732 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001171.6(ABCC6):c.3507-1G>A rs72664210 0.00001
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter) rs72653749 0.00001
NM_001171155.2(PET100):c.3G>C (p.Met1Ile) rs587777839 0.00001
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter) rs1554728698 0.00001
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118 0.00001
NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter) rs387907152 0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A rs886044841 0.00001
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) rs794729284 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter) rs374107286 0.00001
NM_001277115.2(DNAH11):c.6004C>T (p.Arg2002Ter) rs373844629 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) rs372504780 0.00001
NM_001312673.2(PCYT1A):c.847C>T (p.Arg283Ter) rs587777192 0.00001
NM_001354768.3(NRL):c.223dup (p.Leu75fs) rs763191889 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653 0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646 0.00001
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter) rs104886039 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter) rs749076525 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter) rs749315686 0.00001
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs) rs753301358 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter) rs1490127694 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_001382391.1(CSPP1):c.1697+1G>T rs863225193 0.00001
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs) rs1554064102 0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A rs863225154 0.00001
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_001482.3(GATM):c.505C>T (p.Arg169Ter) rs397514708 0.00001
NM_001692.4(ATP6V1B1):c.1248+1G>C rs1553420702 0.00001
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter) rs1414143303 0.00001
NM_001927.4(DES):c.322G>T (p.Glu108Ter) rs62636490 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) rs121913038 0.00001
NM_002225.5(IVD):c.784+1G>A rs763471771 0.00001
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val) rs137853070 0.00001
NM_002334.4(LRP4):c.316+1G>A rs780336679 0.00001
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) rs886043590 0.00001
NM_002435.3(MPI):c.488-1G>C rs759579169 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter) rs1353165398 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002529.4(NTRK1):c.1804C>T (p.Arg602Ter) rs763758904 0.00001
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter) rs1254855971 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter) rs1204340475 0.00001
NM_002905.5(RDH5):c.160C>T (p.Arg54Ter) rs769035379 0.00001
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003060.4(SLC22A5):c.652+1G>A rs386134200 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter) rs1482442290 0.00001
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter) rs779055639 0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly) rs72549402 0.00001
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val) rs917981474 0.00001
NM_003742.4(ABCB11):c.2178+1G>A rs1459273753 0.00001
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter) rs121908679 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter) rs1406641581 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln) rs1293789661 0.00001
NM_004482.4(GALNT3):c.803dup (p.Thr269fs) rs766750282 0.00001
NM_004614.5(TK2):c.133C>T (p.Gln45Ter) rs281865486 0.00001
NM_004614.5(TK2):c.173A>G (p.Asn58Ser) rs138439950 0.00001
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004924.6(ACTN4):c.763A>G (p.Lys255Glu) rs121908415 0.00001
NM_004937.3(CTNS):c.646dup (p.Thr216fs) rs893207601 0.00001
NM_004937.3(CTNS):c.681+1G>A rs749317721 0.00001
NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter) rs750971390 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078 0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys) rs59856285 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259 0.00001
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) rs370247862 0.00001
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter) rs373428259 0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs) rs587781625 0.00001
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer) rs752343321 0.00001
NM_005912.3(MC4R):c.496G>A (p.Val166Ile) rs942758928 0.00001
NM_005957.5(MTHFR):c.1632+2T>G rs749765738 0.00001
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) rs28937892 0.00001
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter) rs747658523 0.00001
NM_006017.3(PROM1):c.1142-1G>A rs752619497 0.00001
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs) rs869312929 0.00001
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter) rs587784321 0.00001
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter) rs1782357136 0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) rs766673446 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) rs104894093 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007294.4(BRCA1):c.135-1G>T rs80358158 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter) rs80357134 0.00001
NM_007294.4(BRCA1):c.4485-1G>A rs80358189 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108 0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) rs771019056 0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00001
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185 0.00001
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs) rs397515424 0.00001
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter) rs119463989 0.00001
NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln) rs387907042 0.00001
NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter) rs119473034 0.00001
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter) rs80338716 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014425.5(INVS):c.1078+1G>A rs375416014 0.00001
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter) rs773049314 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_014625.4(NPHS2):c.211C>T (p.Arg71Ter) rs1462028977 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter) rs1025515771 0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter) rs765468034 0.00001
NM_016239.4(MYO15A):c.8968-1G>T rs746051220 0.00001
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) rs759523751 0.00001
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter) rs1050411259 0.00001
NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter) rs199469638 0.00001
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) rs387907215 0.00001
NM_017866.6(TMEM70):c.238C>T (p.Arg80Ter) rs387907070 0.00001
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) rs758921701 0.00001
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753 0.00001
NM_018006.5(TRMU):c.803del (p.Ala268fs) rs745338284 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.844C>T (p.Arg282Cys) rs28937906 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020533.3(MCOLN1):c.405+1G>A rs148748724 0.00001
NM_020547.3(AMHR2):c.994C>T (p.Arg332Ter) rs781745214 0.00001
NM_020632.3(ATP6V0A4):c.1691+1G>A rs587776615 0.00001
NM_020632.3(ATP6V0A4):c.2257C>T (p.Gln753Ter) rs121908367 0.00001
NM_020632.3(ATP6V0A4):c.2420G>A (p.Arg807Gln) rs28939081 0.00001
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter) rs761554022 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_021828.5(HPSE2):c.1099-1G>A rs184270108 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_021871.4(FGA):c.1634A>T (p.Glu545Val) rs121909612 0.00001
NM_021871.4(FGA):c.532C>T (p.Arg178Ter) rs140911890 0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter) rs752690798 0.00001
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022489.4(INF2):c.641G>A (p.Arg214His) rs267606879 0.00001
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278 0.00001
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) rs121907909 0.00001
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) rs1257545151 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_024884.3(L2HGDH):c.256+1G>A rs150299874 0.00001
NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter) rs775259788 0.00001
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.437del (p.Glu146fs) rs1452465499 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775 0.00001
NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs) rs786200876 0.00001
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) rs755800734 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 0.00001
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter) rs201063733 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305 0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) rs755083879 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) rs1055609567 0.00001
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) rs116840778 0.00001
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033380.3(COL4A5):c.4315+1G>A rs587776403 0.00001
NM_052813.5(CARD9):c.865C>T (p.Gln289Ter) rs398122363 0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter) rs121912951 0.00001
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter) rs397515621 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578 0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766 0.00001
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.383del (p.Thr128fs) rs868562051 0.00001
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter) rs770522674 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 0.00001
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs) rs771455190 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) rs1485445500 0.00001
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter) rs368138001 0.00001
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370 0.00001
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235 0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter) rs142394051 0.00001
NM_170784.3(MKKS):c.986-1G>A rs200633158 0.00001
NM_173483.4(CYP4F22):c.728G>A (p.Arg243His) rs118203937 0.00001
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) rs373208120 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_182476.3(COQ6):c.564G>A (p.Trp188Ter) rs1057519349 0.00001
NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter) rs557128345 0.00001
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys) rs137852852 0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846 0.00001
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter) rs137852845 0.00001
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673 0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs) rs755338751 0.00001
NM_194277.3(FRMD7):c.1003C>T (p.Arg335Ter) rs137852208 0.00001
NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter) rs137852757 0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) rs772038362 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_198525.3(KIF7):c.1019dup (p.Asn341fs) rs1964065704 0.00001
NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter) rs201589664 0.00001
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045 0.00001
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs) rs762142684 0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter) rs1168346560 0.00001
GRCh37/hg19 10q24.31(chr10:102568846-102589718)
GRCh37/hg19 12p13.32(chr12:4477393-4488878)
GRCh37/hg19 13q14.3(chr13:52548050-52549324)
GRCh37/hg19 16p13.11(chr16:16248464-16259810)
GRCh37/hg19 16p13.3(chr16:2089795-2185919)
GRCh37/hg19 16p13.3(chr16:2141136-2169208)
GRCh37/hg19 16p13.3(chr16:2147318-2164328)
GRCh37/hg19 16p13.3(chr16:5121789-5133778)
GRCh37/hg19 16p13.3(chr16:5129043-5129828)
GRCh37/hg19 16q24.3(chr16:89620873-89881041)
GRCh37/hg19 17p13.2(chr17:3539741-3561489)
GRCh37/hg19 1p32.3(chr1:55464606-55482845)
GRCh37/hg19 1p34.1(chr1:45965972-45979054)
GRCh37/hg19 1p36.13(chr1:16370960-16383841)
GRCh37/hg19 20q13.2(chr20:52769985-52790525)
GRCh37/hg19 22q11.21(chr22:18900294-18923806)
GRCh37/hg19 2p21(chr2:44507834-44508700)
GRCh37/hg19 2p21(chr2:44527089-44541110)
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
GRCh37/hg19 4q22.1(chr4:90647764-90758128)
GRCh37/hg19 5q35.3(chr5:176812675-176813587)
GRCh37/hg19 6q26(chr6:161969922-161990424)
GRCh37/hg19 6q26(chr6:162394320-162475157)
GRCh37/hg19 6q26(chr6:162622150-162622256)
GRCh37/hg19 6q26(chr6:162622150-162683772)
GRCh37/hg19 6q26(chr6:162864400-162864441)
GRCh37/hg19 8q24.3(chr8:143958418-143996344)
GRCh37/hg19 9q31.1(chr9:103059178-103060312)
GRCh37/hg19 Xq22.3(chrX:107683053-107940795)
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.3243A>G rs199474657
NM_000016.6(ACADM):c.608T>A (p.Leu203Ter) rs1486350523
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del) rs387906308
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs) rs1555528304
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.975+1G>A rs2065325898
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn) rs180177194
NM_000030.3(AGXT):c.327del (p.Gln110fs) rs180177200
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) rs180177221
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000037.4(ANK1):c.2390_2393del
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) rs1554085355
NM_000038.6(APC):c.3901dup (p.Thr1301fs) rs1554085382
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.74_75del (p.Gln25fs) rs1554067124
NM_000038.6(APC):c.835-17A>G rs1580511131
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.933+1G>A rs876660765
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020
NM_000039.3(APOA1):c.148G>C (p.Gly50Arg) rs28931574
NM_000039.3(APOA1):c.532_533dup (p.His179fs) rs781350389
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000046.5(ARSB):c.1143-8T>G rs431905496
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) rs773492223
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter) rs587782114
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter) rs1555119041
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.4(ATM):c.8851-1G>T rs1057516537
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) rs1176709391
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.213_214del (p.Val73fs) rs1445951068
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) rs1566498495
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) rs762031690
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs) rs1957043255
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) rs1340942427
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000053.4(ATP7B):c.845del (p.Leu282fs) rs193922111
NM_000055.4(BCHE):c.100del (p.Ile34fs) rs750309713
NM_000055.4(BCHE):c.435delinsAG (p.Phe146fs) rs398124632
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) rs762354041
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.2150del (p.Cys717fs) rs397507618
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs) rs80359335
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs) rs2137510225
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs) rs786203494
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs) rs80359503
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.610dup (p.Leu204fs) rs80359560
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) rs80359593
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs) rs397507373
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) rs80359607
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7977-1G>C rs81002874
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8332-1G>A rs397507979
NM_000059.4(BRCA2):c.8332-1G>C rs397507979
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs) rs276174918
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) rs397508045
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000067.3(CA2):c.681del (p.Lys227fs) rs779869368
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs) rs764086484
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000071.3(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.253G>A (p.Gly85Arg) rs863223435
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly) rs104894099
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000085.5(CLCNKB):c.1693del (p.Glu565fs) rs767271426
NM_000085.5(CLCNKB):c.1897del (p.Thr632_Leu633insTer) rs863224858
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs) rs953686324
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.4(COL1A1):c.1299+1G>A rs66490707
NM_000088.4(COL1A1):c.1667del (p.Pro556fs) rs1351742344
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.2343+1G>A rs1114167378
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.4(COL1A1):c.288del (p.Asp97fs) rs2144593759
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val) rs67543427
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val) rs72658150
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter) rs1576465155
NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser) rs587779695
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys) rs2153503430
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter) rs794728057
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys) rs1559873550
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu) rs1131691738
NM_000091.5(COL4A3):c.1219G>C (p.Gly407Arg) rs1559878862
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1]) rs1306992119
NM_000091.5(COL4A3):c.2330G>T (p.Gly777Val) rs2106151987
NM_000091.5(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.5(COL4A3):c.2916_2917del (p.Gly973fs) rs1559904445
NM_000091.5(COL4A3):c.3464G>A (p.Gly1155Asp) rs2106235905
NM_000091.5(COL4A3):c.3619G>A (p.Gly1207Arg) rs1167411352
NM_000091.5(COL4A3):c.3620G>A (p.Gly1207Glu) rs1553764136
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.5(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs) rs1385106410
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del) rs773081522
NM_000092.5(COL4A4):c.1580del (p.Gly527fs) rs2059732983
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs) rs2150505385
NM_000092.5(COL4A4):c.1889del (p.Pro630fs) rs757688183
NM_000092.5(COL4A4):c.2171del (p.Arg724fs) rs1576207007
NM_000092.5(COL4A4):c.2219dup (p.Val741fs) rs141127013
NM_000092.5(COL4A4):c.2377del (p.Ala793fs) rs1976320157
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter) rs121912859
NM_000092.5(COL4A4):c.3882_3883del (p.Cys1294fs) rs2149956832
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) rs1433065763
NM_000092.5(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs) rs863223475
NM_000094.4(COL7A1):c.1637-1G>A rs886058642
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg) rs1156352791
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.4(COL7A1):c.4568del (p.Pro1523fs) rs778165989
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=) rs1560232515
NM_000094.4(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp) rs1057517725
NM_000094.4(COL7A1):c.58_70del (p.Arg20fs) rs2045987838
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg) rs762162799
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) rs1601054715
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg) rs312262900
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) rs104894511
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs) rs1844105842
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
NM_000104.4(CYP1B1):c.517G>T (p.Glu173Ter) rs72481807
NM_000104.4(CYP1B1):c.535del (p.Ala179fs) rs771076928
NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer) rs766425037
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs) rs587778875
NM_000107.3(DDB2):c.937C>T (p.Arg313Ter) rs121434641
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) rs782507902
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs) rs1439211546
NM_000127.3(EXT1):c.1468dup (p.Leu490fs) rs886039355
NM_000127.3(EXT1):c.538_539del (p.Leu181fs) rs886039486
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.3920del (p.Gln1307fs) rs1228394297
NM_000135.4(FANCA):c.4168-2A>G rs1220672299
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs) rs2143657184
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000137.4(FAH):c.191del (p.Gln64fs) rs2142090831
NM_000137.4(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) rs748893499
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.2219_2220del (p.Val740fs) rs2039364779
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000153.4(GALC):c.521del (p.Tyr174fs) rs1555383517
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly) rs1450426641
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.203dup (p.Thr69fs) rs1170895261
NM_000157.4(GBA1):c.635C>G (p.Ser212Ter) rs1671872221
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) rs867929413
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr) rs866075757
NM_000157.4(GBA1):c.914del (p.Pro305fs) rs1366567865
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys) rs142967670
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000159.4(GCDH):c.91+5G>T rs952356983
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.793G>A (p.Glu265Lys) rs104894011
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) rs1554200992
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000168.6(GLI3):c.1880_1881del (p.His627fs) rs2128710014
NM_000169.3(GLA):c.118C>T (p.Pro40Ser) rs104894831
NM_000169.3(GLA):c.1235_1236del (p.Thr412fs) rs797044777
NM_000169.3(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.3(GLA):c.195-1G>T rs398123206
NM_000169.3(GLA):c.19G>T (p.Glu7Ter) rs398123207
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.515G>A (p.Cys172Tyr) rs869312318
NM_000169.3(GLA):c.640-1G>A rs398123216
NM_000169.3(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000169.3(GLA):c.668G>A (p.Cys223Tyr) rs869312382
NM_000169.3(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.3(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.3(GLA):c.888G>T (p.Met296Ile) rs104894846
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter) rs570097430
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.2838+2T>C rs1554641887
NM_000170.3(GLDC):c.492C>G (p.Tyr164Ter) rs746124283
NM_000174.5(GP9):c.70T>C (p.Cys24Arg) rs28933378
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter) rs63751419
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000182.5(HADHA):c.1059del (p.Lys353fs) rs1227493628
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs) rs1057517081
NM_000187.4(HGD):c.1111dup (p.His371fs) rs397515516
NM_000187.4(HGD):c.360T>G (p.Cys120Trp) rs149165166
NM_000187.4(HGD):c.457dup (p.Asp153fs) rs397515346
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs) rs1846922474
NM_000195.5(HPS1):c.780dup (p.Arg261fs) rs2136197089
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter) rs1456090810
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) rs758049059
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC rs2126214430
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys) rs869320659
NM_000207.3(INS):c.-152C>G rs748749585
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000210.4(ITGA6):c.915del (p.His305fs) rs2149047683
NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs) rs2061333185
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer) rs1568796236
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter) rs886039395
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del) rs397508068
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs) rs397508087
NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.796del (p.Leu266fs) rs397508125
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000218.3(KCNQ1):c.921+1G>T rs397508130
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp) rs59616921
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter) rs774174881
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_000228.3(LAMB3):c.3228+1G>A rs778026407
NM_000229.2(LCAT):c.101C>T (p.Pro34Leu) rs121908051
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter) rs1881219252
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000232.5(SGCB):c.567dup (p.His190fs) rs1263020044
NM_000232.5(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) rs121912518
NM_000237.3(LPL):c.1227G>A (p.Trp409Ter) rs118204066
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_000238.4(KCNH2):c.2104C>T (p.Gln702Ter) rs794728382
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del) rs63751247
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.306+5G>A rs267607735
NM_000249.4(MLH1):c.588+5G>A rs267607768
NM_000249.4(MLH1):c.885-1G>A rs1553647894
NM_000251.3(MSH2):c.1076+1G>A rs267607940
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter) rs587779190
NM_000255.4(MMUT):c.1332+1del rs771542321
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter) rs879253848
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.360dup (p.Lys121Ter) rs1554160919
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter) rs879253834
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter) rs879253824
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs) rs730880653
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.459del (p.Ile154fs) rs397516052
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.462C>A (p.Cys154Ter) rs1952434877
NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) rs111033477
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys) rs1305299665
NM_000270.4(PNP):c.171_172delinsTT (p.Arg58Ter) rs2139335365
NM_000270.4(PNP):c.286-18G>A rs1026474882
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter) rs777286835
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr) rs62508628
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1315+2T>C rs1799970
NM_000277.3(PAH):c.168_168+1delinsAA rs786204457
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.439C>T (p.Pro147Ser) rs199475624
NM_000277.3(PAH):c.482T>C (p.Phe161Ser) rs79635844
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter) rs62514928
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.844G>A (p.Asp282Asn) rs199475582
NM_000278.5(PAX2):c.250G>A (p.Gly84Ser) rs2133836340
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter) rs1845412705
NM_000278.5(PAX2):c.418C>T (p.Arg140Trp) rs1217241110
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) rs76492282
NM_000278.5(PAX2):c.76del (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter) rs199422210
NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter) rs2110107236
NM_000297.4(PKD2):c.1047dup (p.Val350fs) rs1578130597
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.110del (p.Gly37fs) rs2110080128
NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter) rs121918039
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter) rs1578135870
NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter) rs121918042
NM_000297.4(PKD2):c.1445del (p.Phe482fs) rs1578135940
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter) rs1720124087
NM_000297.4(PKD2):c.1668dup (p.Gln557fs) rs1578139269
NM_000297.4(PKD2):c.1716+2T>A rs1720129561
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2020-1_2020del rs1553927436
NM_000297.4(PKD2):c.2101_2102del (p.Ser701fs) rs1578144898
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.2242A>T (p.Lys748Ter) rs1578147448
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.2527del (p.Leu842_Val843insTer) rs1560632930
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.567G>A (p.Trp189Ter) rs1163840810
NM_000297.4(PKD2):c.640G>T (p.Glu214Ter) rs2110089248
NM_000297.4(PKD2):c.741C>G (p.Tyr247Ter) rs1578129049
NM_000297.4(PKD2):c.817_818del (p.Leu273fs) rs1057518969
NM_000297.4(PKD2):c.843+1G>A rs1727333593
NM_000297.4(PKD2):c.952dup (p.Val318fs) rs2110107069
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000312.4(PROC):c.520C>T (p.Gln174Ter) rs1434042239
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.209+1G>A rs1554897280
NM_000314.8(PTEN):c.253+2T>A rs1224040268
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.8(PTEN):c.634+5G>A rs138336847
NM_000314.8(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu) rs121434599
NM_000317.3(PTS):c.259C>T (p.Pro87Ser) rs104894276
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000329.3(RPE65):c.440_441del (p.Thr147fs) rs1201299067
NM_000330.4(RS1):c.214G>C (p.Glu72Gln) rs104894928
NM_000330.4(RS1):c.286T>C (p.Trp96Arg) rs61752063
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) rs1060501127
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter) rs778760498
NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter) rs1048935147
NM_000338.3(SLC12A1):c.2242del (p.Tyr748fs) rs758961147
NM_000338.3(SLC12A1):c.382C>T (p.Arg128Ter) rs773855120
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000349.3(STAR):c.201_202del (p.Tyr68fs) rs1563268652
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg) rs61753039
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.1893del (p.Gln632fs) rs2133539303
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs) rs1057516317
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His) rs1446306735
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000359.3(TGM1):c.944G>A (p.Arg315His) rs143473912
NM_000359.3(TGM1):c.984+1G>A rs749160734
NM_000362.5(TIMP3):c.610A>T (p.Ser204Cys) rs137853298
NM_000368.5(TSC1):c.1029+1G>A rs118203485
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter) rs397514879
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.553-1G>T rs2129741848
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000379.4(XDH):c.140dup (p.Cys48fs) rs773456900
NM_000379.4(XDH):c.641del (p.Pro214fs) rs778685046
NM_000380.4(XPA):c.553C>T (p.Gln185Ter) rs1828741490
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000384.3(APOB):c.11040T>G (p.Tyr3680Ter) rs1663118269
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) rs281865425
NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter) rs146538280
NM_000384.3(APOB):c.9200del (p.Lys3067fs) rs121918387
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) rs121909260
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.658C>T (p.Arg220Trp) rs1482119762
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.357dup (p.Leu120fs) rs1554902085
NM_000397.4(CYBB):c.252G>A (p.Ala84=) rs387906485
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.591dup (p.Asp198Ter) rs2125533127
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000416.3(IFNGR1):c.819_822del (p.Asn274fs) rs587776856
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) rs58852768
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) rs59151893
NM_000424.4(KRT5):c.980T>C (p.Met327Thr) rs58072617
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000429.3(MAT1A):c.776C>T (p.Ala259Val) rs138556525
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) rs1555730197
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) rs1315422549
NM_000444.6(PHEX):c.1080-1G>A rs886041695
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs1927568587
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) rs1556020770
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser) rs121912433
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
NM_000458.4(HNF1B):c.544+1G>A
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000458.4(HNF1B):c.809+1G>A
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) rs730881422
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) rs267608178
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1017dup (p.His340fs) rs764908423
NM_000478.6(ALPL):c.1077C>G (p.Ile359Met) rs567349821
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.129del (p.Gln44fs) rs763244290
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) rs786204530
NM_000478.6(ALPL):c.551G>A (p.Arg184Gln) rs1558549798
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.244del (p.Arg82fs) rs1569081823
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) rs2066119604
NM_000490.5(AVP):c.55G>A (p.Ala19Thr) rs387906511
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs) rs121908775
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1692del (p.Asp565fs) rs193922505
NM_000492.4(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter) rs397508331
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2453del (p.Leu818fs) rs397515498
NM_000492.4(CFTR):c.2472del (p.Asn825fs) rs397508380
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter) rs121908788
NM_000492.4(CFTR):c.2822del (p.Leu941fs) rs762844777
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3873+1G>A rs143570767
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter) rs397508716
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.580-1G>T rs121908793
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs) rs1256580853
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln) rs1447069098
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met) rs104894061
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys) rs72552757
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000503.6(EYA1):c.1475+1G>C rs727503042
NM_000503.6(EYA1):c.1487_1488del (p.Val496fs) rs2128850318
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) rs1131691667
NM_000505.4(F12):c.983C>A (p.Thr328Lys) rs118204456
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000515.5(GH1):c.291+1G>A rs71640277
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) rs2089384365
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.171del (p.Trp57fs) rs771973471
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.782_785del (p.Ser261fs) rs1312009126
NM_000523.4(HOXD13):c.183_206dup (p.Ala64_Ala71dup) rs756844068
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter) rs875989933
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.817+1G>A rs879254685
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000531.6(OTC):c.29_32del (p.Asn10fs) rs72552297
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1498+2T>C rs879253816
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter) rs398123463
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs) rs267608173
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter) rs761134229
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000536.4(RAG2):c.829dup (p.Tyr277fs) rs1851074524
NM_000539.3(RHO):c.68C>A (p.Pro23His) rs104893768
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu) rs193922772
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter) rs878854365
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter) rs1456276440
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs) rs886041380
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter) rs120074127
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3397+1G>A rs137854208
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) rs45517348
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.976-15G>A rs45517150
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000558.5(HBA1):c.328del (p.Leu110fs) rs281864535
NM_000558.5(HBA1):c.94_95del (p.Arg32fs) rs1596573477
NM_000587.4(C7):c.1924_1925del (p.His643fs) rs764871530
NM_000587.4(C7):c.633_643del (p.Ser212fs) rs770367814
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.718del (p.Ala240fs) rs1555766993
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) rs794727847
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter) rs111033580
NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val) rs121912811
NM_000782.5(CYP24A1):c.62del (p.Pro21fs) rs774432244
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter) rs1131691921
NM_000901.5(NR3C2):c.2839C>T (p.Arg947Ter) rs121912569
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter) rs587777118
NM_001001548.3(CD36):c.332_333del (p.Thr111fs) rs572295823
NM_001003841.3(SLC6A19):c.1173+2T>G rs142979576
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.1532del (p.Phe511fs) rs794729127
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) rs794729098
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter) rs758719615
NM_001009944.3(PKD1):c.10092dup (p.Leu3365fs) rs1567165997
NM_001009944.3(PKD1):c.10168C>T (p.Gln3390Ter) rs2151728536
NM_001009944.3(PKD1):c.10259G>A (p.Trp3420Ter) rs2151727019
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter) rs1385274120
NM_001009944.3(PKD1):c.10462dup (p.Gln3488fs) rs2091883381
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs) rs2151710519
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs) rs1378307448
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.108del (p.Cys37fs) rs2092941062
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.11156+1G>T rs1596485727
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln) rs1555446576
NM_001009944.3(PKD1):c.11200_11206del (p.Tyr3734fs) rs1567155179
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter) rs2091619053
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter) rs199476098
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) rs724159823
NM_001009944.3(PKD1):c.11557G>T (p.Glu3853Ter) rs2091580237
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.11692_11693del (p.Ser3898fs) rs2151695024
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter) rs2091572700
NM_001009944.3(PKD1):c.11766G>A (p.Trp3922Ter) rs2091498706
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001009944.3(PKD1):c.11884C>T (p.Gln3962Ter) rs1596476503
NM_001009944.3(PKD1):c.11944C>T (p.Gln3982Ter) rs1161012209
NM_001009944.3(PKD1):c.12004-2A>G rs2091475604
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.1202-1G>A rs2151822688
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12036G>A (p.Trp4012Ter) rs1218054241
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12310_12311del (p.Val4104fs) rs1060499718
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter) rs2091437893
NM_001009944.3(PKD1):c.12383_12387del (p.Glu4128fs) rs2151680679
NM_001009944.3(PKD1):c.12448C>T (p.Arg4150Cys) rs1282668884
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.1326del (p.Ala443fs) rs2151822381
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs) rs2151820943
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.1606+1G>A rs2151820539
NM_001009944.3(PKD1):c.160_166del (p.Arg54fs) rs3072277
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1849+1G>T rs2092628618
NM_001009944.3(PKD1):c.1903C>T (p.Gln635Ter) rs1348307652
NM_001009944.3(PKD1):c.2054_2055del (p.Glu685fs) rs2151816205
NM_001009944.3(PKD1):c.2079dup (p.Pro694fs) rs1057518923
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.215+2_215+3del rs2092939625
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2308dup (p.Arg770fs) rs2092600549
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.2659del (p.Trp887fs) rs2092593850
NM_001009944.3(PKD1):c.272C>A (p.Ser91Ter) rs1339097856
NM_001009944.3(PKD1):c.2853+1G>A rs2151812559
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter) rs753261451
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter) rs1596563657
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter) rs755084885
NM_001009944.3(PKD1):c.348_352del (p.Asn116fs) rs2092683596
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.4041_4042del (p.His1347fs) rs2092491511
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) rs1567201083
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4654del (p.Val1552fs) rs2047525622
NM_001009944.3(PKD1):c.4743dup (p.Trp1582fs) rs2151796475
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) rs202110519
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter) rs1264176877
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.5086C>T (p.Gln1696Ter) rs1057518783
NM_001009944.3(PKD1):c.5141del (p.Phe1714fs) rs1596556375
NM_001009944.3(PKD1):c.5395C>T (p.Gln1799Ter) rs2092452489
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter) rs2092450284
NM_001009944.3(PKD1):c.5552_5553del (p.His1851fs) rs1567196314
NM_001009944.3(PKD1):c.566C>G (p.Ser189Ter) rs1304952446
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter) rs199476101
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter) rs1567195059
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter) rs2092439541
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs) rs2151790499
NM_001009944.3(PKD1):c.601dup (p.His201fs) rs2151824362
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter) rs2151790199
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter) rs755747732
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.628_631dup (p.Ser211fs) rs2151824295
NM_001009944.3(PKD1):c.6406C>T (p.Gln2136Ter) rs2092425533
NM_001009944.3(PKD1):c.6424C>T (p.Gln2142Ter) rs2151788037
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6493C>T (p.Gln2165Ter) rs1485307916
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter) rs1555454373
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6586C>T (p.Gln2196Ter) rs1567192286
NM_001009944.3(PKD1):c.659del (p.Gly220fs) rs2151824233
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs) rs2151786400
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.6806C>G (p.Ser2269Ter) rs1567191179
NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter) rs755591790
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs) rs1555453872
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7045del (p.Glu2349fs) rs1596548114
NM_001009944.3(PKD1):c.7060C>T (p.Gln2354Ter) rs2092400157
NM_001009944.3(PKD1):c.7065+1G>A rs2151783532
NM_001009944.3(PKD1):c.7137C>G (p.Tyr2379Ter) rs752114168
NM_001009944.3(PKD1):c.7174del (p.Arg2392fs) rs1555453360
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter) rs1567186165
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) rs764840802
NM_001009944.3(PKD1):c.7951del (p.Val2651fs) rs2151766847
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter) rs2092301272
NM_001009944.3(PKD1):c.8043_8046del (p.Ser2682fs) rs2092262890
NM_001009944.3(PKD1):c.8162-1G>A rs1555451430
NM_001009944.3(PKD1):c.8251C>T (p.Gln2751Ter) rs2092205600
NM_001009944.3(PKD1):c.8309_8318delinsTGACGCTGACGGGCGGG (p.Asn2770fs) rs2092202856
NM_001009944.3(PKD1):c.8470C>T (p.Gln2824Ter) rs2092196354
NM_001009944.3(PKD1):c.8560C>T (p.Gln2854Ter) rs1364976535
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter) rs1567176750
NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter) rs1555450968
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs) rs2151754069
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter) rs747638599
NM_001009944.3(PKD1):c.8873C>A (p.Ser2958Ter) rs750780241
NM_001009944.3(PKD1):c.8972dup (p.Tyr2991Ter) rs1567174997
NM_001009944.3(PKD1):c.8973C>A (p.Tyr2991Ter) rs1596522636
NM_001009944.3(PKD1):c.9201+1G>A rs2151749304
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9592C>T (p.Gln3198Ter) rs1474701377
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs) rs2151740671
NM_001009944.3(PKD1):c.9691G>T (p.Glu3231Ter) rs2151740638
NM_001010892.3(RSPH4A):c.1270del (p.Thr424fs) rs397518456
NM_001010892.3(RSPH4A):c.1662+2_1662+5del rs768986129
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683
NM_001017420.3(ESCO2):c.1674-2A>G rs80359869
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) rs80359857
NM_001018115.3(FANCD2):c.99_102del (p.Lys33fs) rs1283566463
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001024630.4(RUNX2):c.568C>T (p.Arg190Trp) rs2150368246
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) rs104893991
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val) rs121918317
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter) rs2067187550
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs) rs771696726
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter) rs746060762
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) rs796053197
NM_001041.4(SI):c.2025dup (p.Gly676fs) rs2108219188
NM_001041.4(SI):c.793del (p.Gln265fs) rs1714177959
NM_001042413.2(GLIS3):c.571_572dup (p.Leu191_Asn192insTer) rs1586744173
NM_001042432.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_001042492.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2991-1G>C rs1060500273
NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter) rs2151435633
NM_001042492.3(NF1):c.3870+1G>T rs1131691075
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter) rs1567862991
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter) rs786203896
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.6006+1G>A rs1555534433
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) rs1131691073
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) rs587780088
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter) rs1161400848
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) rs782178147
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer) rs758062617
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs) rs770318990
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter) rs1064794220
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer) rs751871500
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys) rs200697179
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs) rs780299444
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs) rs754378340
NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter) rs747383768
NM_001126108.2(SLC12A3):c.2720+1G>C rs1347239469
NM_001126108.2(SLC12A3):c.283del (p.Gln95fs) rs1555499234
NM_001126108.2(SLC12A3):c.2850_2851del (p.Arg950fs) rs746623621
NM_001126108.2(SLC12A3):c.2866C>T (p.Gln956Ter) rs761692493
NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter) rs200219778
NM_001127217.3(SMAD9):c.386dup (p.Tyr129Ter) rs2138492919
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001128126.3(AP4S1):c.138+3_138+6del rs876661295
NM_001128159.3(VPS53):c.2084A>G (p.Gln695Arg) rs587777465
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) rs886043145
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter) rs758992291
NM_001130987.2(DYSF):c.759+1G>C rs398123800
NM_001130987.2(DYSF):c.922del (p.Glu308fs) rs1553522133
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134673.4(NFIA):c.70C>T (p.Arg24Ter) rs1064794841
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter) rs1554214453
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter) rs1764939836
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs) rs1582376398
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs) rs2152991690
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) rs934111355
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter) rs762881892
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter) rs1553546668
NM_001165963.4(SCN1A):c.141del (p.Asn47fs) rs796053076
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter) rs1698593264
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter) rs72650698
NM_001171.6(ABCC6):c.1674del (p.Glu559fs) rs1313008538
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter) rs72650701
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter) rs886041847
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter) rs772409032
NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter) rs1835287406
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro) rs1588307140
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys) rs886039576
NM_001177316.2(SLC34A3):c.1046_1047del (p.Val349fs) rs750178720
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter) rs1928365677
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter) rs587783680
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) rs1060502576
NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer) rs1085307169
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.529+1G>A rs1553508187
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001232.4(CASQ2):c.62del (p.Glu21fs) rs397507555
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) rs28937896
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) rs1064793662
NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg) rs773780151
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.106629del (p.Ala35544fs) rs869312069
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter) rs2141839141
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter) rs1057518128
NM_001277115.2(DNAH11):c.11968-1G>C rs1783569129
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) rs202134424
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) rs200930463
NM_001282225.2(ADA2):c.144del (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.144dup (p.Arg49fs) rs756881285
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter) rs1555810308
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His) rs281860281
NM_001289104.2(PRKCSH):c.1290C>G (p.Tyr430Ter) rs121918520
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs) rs779685748
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter) rs2044403163
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs) rs1064794342
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter) rs781748056
NM_001354712.2(THRB):c.728G>A (p.Arg243Gln) rs121918706
NM_001354712.2(THRB):c.958C>T (p.Arg320Cys) rs121918696
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys) rs1565584679
NM_001360.3(DHCR7):c.355del (p.His119fs) rs747827699
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001363711.2(DUOX2):c.605_621del (p.Gln202fs) rs769318570
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter) rs1060501464
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) rs2126564103
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs) rs1370489117
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.376del (p.Val126fs) rs35129409
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter) rs148891849
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs) rs1436141222
NM_001370595.2(COA8):c.196C>T (p.Arg66Ter) rs587777784
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter) rs387907144
NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter) rs387907141
NM_001375905.1(SGMS2):c.148C>T (p.Arg50Ter) rs1560667389
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) rs63750756
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs) rs1163532771
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter) rs780438592
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs) rs768759374
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs) rs758098717
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer) rs1225343345
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter) rs121908390
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter) rs373937326
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.6074del (p.Gly2025fs) rs1442485603
NM_001384732.1(CPLANE1):c.1372-2A>G rs886043786
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter) rs863225164
NM_001384732.1(CPLANE1):c.3130_3131insA (p.Arg1044fs) rs863225161
NM_001384732.1(CPLANE1):c.510del (p.Leu171fs) rs779680371
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs) rs755653150
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001395891.1(CLASP1):c.196-609C>T rs575472572
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del) rs397516665
NM_001429.4(EP300):c.104_107del (p.Ser35fs) rs886037664
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys) rs78001248
NM_001615.4(ACTG2):c.533G>A (p.Arg178His) rs587777384
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.1258dup (p.Tyr420fs) rs2104834299
NM_001692.4(ATP6V1B1):c.1401_1402dup (p.Phe468fs) rs2104834712
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) rs1553419751
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001814.6(CTSC):c.1141del (p.Leu381fs) rs772132996
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2858del (p.Pro953fs) rs2136527926
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) rs1555168505
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter) rs770789859
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter) rs80356782
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001943.5(DSG2):c.495dup (p.Gly166fs) rs781532110
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer) rs764792655
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.487G>T (p.Gly163Ter) rs1214424848
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002067.5(GNA11):c.178C>T (p.Arg60Cys) rs587777021
NM_002185.5(IL7R):c.361dup (p.Ile121fs) rs869312857
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067
NM_002292.4(LAMB2):c.1276del (p.His426fs) rs2107643346
NM_002317.7(LOX):c.893T>G (p.Met298Arg) rs876657852
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) rs121908661
NM_002336.3(LRP6):c.2218C>T (p.Gln740Ter) rs1591901585
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu) rs727503284
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002693.3(POLG):c.3643+2T>C rs1335880349
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002734.5(PRKAR1A):c.709-7_709-2del rs281864801
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002878.4(RAD51D):c.215del (p.Tyr72fs) rs2142474090
NM_002878.4(RAD51D):c.478C>T (p.Gln160Ter) rs1057521922
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) rs1060503440
NM_002890.3(RASA1):c.613_617del (p.Leu205fs) rs1060503441
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) rs1554044823
NM_002968.3(SALL1):c.1115C>G (p.Ser372Ter) rs104894535
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs) rs377767449
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs) rs386134195
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003060.4(SLC22A5):c.844del (p.Arg282fs) rs386134209
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.773_774del (p.Val258fs) rs768136171
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.367_368del (p.Arg123fs) rs2119083553
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del) rs1555487528
NM_003361.4(UMOD):c.553C>T (p.Arg185Cys) rs1567310155
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly) rs1555487316
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter) rs104893624
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter) rs104893626
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003494.4(DYSF):c.1481-1G>A rs398123770
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs) rs587784336
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1411+1G>A rs2147027077
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003647.3(DGKE):c.427C>T (p.Gln143Ter) rs1340500871
NM_003647.3(DGKE):c.610del (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.610dup (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.62_65dup (p.Ile23fs) rs1214440741
NM_003673.4(TCAP):c.110_110+1del rs786205076
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg) rs72549399
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr) rs1064794256
NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup) rs17879189
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs) rs386833800
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.3(DMD):c.8391-1_8391delinsAA rs1060502619
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys) rs397514498
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs) rs746519257
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp) rs372989281
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) rs387906877
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter) rs1057517945
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) rs587782798
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004482.4(GALNT3):c.1626+1G>A rs760830864
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004523.4(KIF11):c.247C>T (p.Arg83Ter) rs1064796738
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys) rs121434394
NM_004621.6(TRPC6):c.2684G>T (p.Arg895Leu) rs1591517912
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.463C>T (p.Arg155Ter) rs755825264
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.1008dup (p.Pro337fs) rs1829086026
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.620del (p.Leu207fs) rs753727461
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.4(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter) rs1064795638
NM_004836.7(EIF2AK3):c.1936_1958del (p.Leu646fs) rs2104414335
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.561+1del rs786204667
NM_004937.3(CTNS):c.61+5G>A rs1407498555
NM_004937.3(CTNS):c.696_697dup (p.Val233fs) rs1555563982
NM_004937.3(CTNS):c.829dup (p.Thr277fs) rs752919200
NM_004937.3(CTNS):c.926dup (p.Ser310fs) rs786204420
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His) rs104894699
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004998.4(MYO1E):c.979C>T (p.Gln327Ter) rs1427276872
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs) rs1555142142
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter) rs764343290
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys) rs56275071
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) rs786204558
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005529.7(HSPG2):c.7006+1G>A rs778653296
NM_005554.4(KRT6A):c.510CAA[2] (p.Asn172del) rs606231214
NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser) rs58556099
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys) rs59685571
NM_005555.4(KRT6B):c.1414G>A (p.Glu472Lys) rs60627726
NM_005555.4(KRT6B):c.510CAA[2] (p.Asn172del) rs267607472
NM_005557.4(KRT16):c.374A>G (p.Asn125Ser) rs60723330
NM_005557.4(KRT16):c.379C>G (p.Arg127Gly) rs59856285
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005732.4(RAD50):c.1253_1254del (p.Phe418fs) rs1060501954
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs) rs587781930
NM_005732.4(RAD50):c.904G>T (p.Glu302Ter) rs587782090
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005859.5(PURA):c.812_814del (p.Phe271del) rs587782991
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005912.3(MC4R):c.268G>A (p.Asp90Asn) rs2143967167
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) rs121913564
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs) rs763677869
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del) rs781262017
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter) rs377544135
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter) rs142428158
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) rs748659068
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) rs28942094
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006231.4(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) rs748157664
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006494.4(ERF):c.547C>T (p.Arg183Ter) rs587777006
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter) rs149038104
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) rs1033766338
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) rs121908458
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) rs1599397070
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007198.4(PLPBP):c.370_373del (p.Asp124fs) rs755595256
NM_007214.5(SEC63):c.715C>T (p.Arg239Ter) rs755795110
NM_007214.5(SEC63):c.733+1G>A rs886041028
NM_007262.5(PARK7):c.105dup (p.Ala36fs) rs781600849
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter) rs886040898
NM_007294.4(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.4(BRCA1):c.1731dup (p.Ser578fs) rs1064797381
NM_007294.4(BRCA1):c.2105dup (p.Leu702fs) rs80357880
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter) rs273899698
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs) rs397509067
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs) rs80357902
NM_007294.4(BRCA1):c.3759_3760del (p.Lys1254fs) rs80357520
NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter) rs80357440
NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs) rs80357727
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter) rs80357202
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4357+1G>T rs80358027
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4625_4626del (p.Ser1542fs) rs80357542
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4976del (p.Pro1659fs) rs879255295
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5368del (p.Ser1790fs) rs879254116
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.744del (p.Thr249fs) rs1060502360
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter) rs879255498
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_012120.3(CD2AP):c.1742dup (p.Asn581fs) rs773479372
NM_012120.3(CD2AP):c.730-1_730delinsCT rs1554181304
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.593_594del (p.Glu198fs) rs1588757756
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter) rs749632782
NM_013296.5(GPSM2):c.1501del (p.Ser501fs) rs761092578
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) rs1553253989
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014140.4(SMARCAL1):c.1146_1147+2del rs1574450161
NM_014140.4(SMARCAL1):c.1921dup (p.Val641fs) rs1694436267
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del) rs1555454566
NM_014251.3(SLC25A13):c.1453-2A>T rs2116426311
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del) rs202247803
NM_014270.5(SLC7A9):c.1262_1263del (p.Ser421fs) rs753692696
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter) rs1007096305
NM_014270.5(SLC7A9):c.1400-2A>G rs2145788754
NM_014270.5(SLC7A9):c.411_412del (p.Pro139fs) rs774124697
NM_014270.5(SLC7A9):c.508G>A (p.Val170Met) rs121908479
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034
NM_014363.6(SACS):c.1769_1770del (p.Val590fs) rs1383333220
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter) rs1329661241
NM_014625.4(NPHS2):c.1032del (p.Phe344fs) rs1673229720
NM_014625.4(NPHS2):c.397del (p.Arg133fs) rs1481262338
NM_014625.4(NPHS2):c.436del (p.Arg146fs) rs778201387
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter) rs763818901
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) rs1166261279
NM_014714.4(IFT140):c.1380del (p.Asn460fs) rs431905522
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014915.3(ANKRD26):c.-128G>A rs1589393809
NM_014956.5(CEP164):c.1264_1265insTGGCTGG (p.His422fs) rs2042674113
NM_014967.5(FAN1):c.1702C>T (p.Gln568Ter) rs2140913969
NM_014967.5(FAN1):c.2245C>T (p.Arg749Ter) rs387907279
NM_014967.5(FAN1):c.2590C>T (p.Gln864Ter) rs767651793
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter) rs864321674
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015102.5(NPHP4):c.1271del (p.Lys424fs) rs770306587
NM_015102.5(NPHP4):c.3644+1G>T rs756111113
NM_015102.5(NPHP4):c.3773_3776del (p.Val1258fs) rs776535691
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) rs606231273
NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs) rs781585299
NM_015627.3(LDLRAP1):c.65G>A (p.Trp22Ter) rs121908324
NM_015627.3(LDLRAP1):c.71del (p.Gly24fs) rs1201229554
NM_015627.3(LDLRAP1):c.89-1G>C rs755104973
NM_015662.3(IFT172):c.1342_1343del (p.Arg448fs) rs1558404443
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs) rs587777078
NM_015910.7(WDPCP):c.1809_1812+6del rs2103953112
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.297_300del (p.Glu99fs) rs113993994
NM_016341.4(PLCE1):c.4363dup (p.Thr1455fs) rs2133104138
NM_016341.4(PLCE1):c.6448C>T (p.Arg2150Ter) rs267606953
NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter) rs367624766
NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter) rs786205697
NM_016356.5(DCDC2):c.123_124del (p.Ser42fs) rs757704417
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter) rs904520404
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys) rs199469635
NM_017415.3(KLHL3):c.1583G>A (p.Arg528His) rs199469636
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs) rs760163489
NM_017570.5(OPLAH):c.2076C>A (p.Cys692Ter) rs781977956
NM_017739.4(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) rs200220845
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017909.4(RMND1):c.485del (p.Pro162fs) rs759477396
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter) rs387907093
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
NM_018136.5(ASPM):c.3082+1G>C rs886041709
NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter) rs199422187
NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn) rs188286943
NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter) rs749343808
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.595del (p.Glu199fs) rs1823778696
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter) rs752922461
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs) rs772429581
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020320.5(RARS2):c.110+5A>G rs63749985
NM_020320.5(RARS2):c.1A>T (p.Met1Leu) rs774923951
NM_020320.5(RARS2):c.42del (p.Arg15fs) rs777942571
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) rs193922702
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter) rs369577952
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs) rs587777498
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs) rs587777499
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021828.5(HPSE2):c.429T>A (p.Tyr143Ter) rs2133951833
NM_021828.5(HPSE2):c.57dup (p.Ala20fs) rs778121647
NM_021922.3(FANCE):c.524dup (p.Arg176fs) rs773363446
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) rs150382575
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter) rs72659356
NM_022356.4(P3H1):c.232del (p.Gln78fs) rs137853948
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170
NM_022489.4(INF2):c.217G>A (p.Gly73Ser) rs1566777560
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_022725.4(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.4(FANCF):c.84del (p.Ala29fs) rs1275961745
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe) rs587777598
NM_022834.5(VWA1):c.62_71dup (p.Gly25fs) rs749383814
NM_023067.3(FOXL2):c.684684AGCTGCGGCTGCAGC[3] (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs387906322
NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter) rs104893738
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro) rs121908293
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024301.5(FKRP):c.948del (p.Cys317fs) rs748798133
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs) rs748809942
NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer) rs1209546374
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) rs121907906
NM_024426.6(WT1):c.1316G>A (p.Arg439His) rs121907901
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln) rs1037084691
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024649.5(BBS1):c.887del (p.Ile296fs) rs794727006
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs) rs515726060
NM_024675.4(PALB2):c.1059del (p.Lys353fs) rs730881872
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.2052del (p.Arg686fs) rs587782680
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter) rs180177122
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs) rs180177126
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) rs587781840
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3202-1G>A rs515726111
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer) rs587782081
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs) rs2136091654
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter) rs2105344578
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.264_267dupTAGA rs748514860
NM_024753.5(TTC21B):c.3087del (p.Gly1030fs) rs2105291970
NM_025074.7(FRAS1):c.364del (p.Glu122fs) rs1560604726
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs) rs730882179
NM_025074.7(FRAS1):c.7254dup (p.Glu2419fs) rs2109847651
NM_025074.7(FRAS1):c.7522+1G>T rs730882180
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1830del (p.Glu610fs) rs992032116
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2251C>T (p.Arg751Ter) rs753884599
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) rs878853362
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter) rs779645669
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.5580del (p.Leu1861fs) rs1592807018
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.679_680del (p.Glu227fs) rs62640578
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.712G>T (p.Glu238Ter) rs2138086844
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs) rs747138345
NM_025114.4(CEP290):c.7341del (p.Lys2447fs) rs281865189
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs) rs587777921
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025216.3(WNT10A):c.803C>G (p.Ser268Ter) rs886039454
NM_025243.4(SLC19A3):c.597dup (p.His200fs) rs773140674
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030943.4(AMN):c.14del (p.Gly5fs) rs386834168
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs) rs730880329
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.3(BRIP1):c.2576-1G>A rs587782539
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter) rs1060501740
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) rs745457191
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032387.5(WNK4):c.1693C>G (p.Gln565Glu) rs137853092
NM_032444.4(SLX4):c.1163+2dup rs2040719850
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_033028.5(BBS4):c.1226del (p.Ser409fs) rs886039800
NM_033028.5(BBS4):c.1318_1321del (p.Val440fs) rs1281334523
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs) rs1834577610
NM_033337.3(CAV3):c.114+2T>C rs116840787
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.1217G>T (p.Gly406Val) rs104886100
NM_033380.3(COL4A5):c.1235G>A (p.Gly412Glu) rs104886102
NM_033380.3(COL4A5):c.1424-20T>A rs281874668
NM_033380.3(COL4A5):c.2057del (p.Pro686fs) rs104886167
NM_033380.3(COL4A5):c.2244+1G>T rs281874688
NM_033380.3(COL4A5):c.2396-1G>C rs886041509
NM_033380.3(COL4A5):c.2500G>C (p.Gly834Arg) rs281874696
NM_033380.3(COL4A5):c.2501G>T (p.Gly834Val) rs2147850123
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu) rs104886199
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter) rs2147865716
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3107G>A (p.Gly1036Glu) rs104886212
NM_033380.3(COL4A5):c.3197G>T (p.Gly1066Val) rs104886221
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) rs104886255
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_033380.3(COL4A5):c.385G>A (p.Gly129Arg) rs281874722
NM_033380.3(COL4A5):c.3932dup (p.Gly1312fs) rs2147975121
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs) rs1556453276
NM_033380.3(COL4A5):c.4342G>C (p.Gly1448Arg) rs104886276
NM_033380.3(COL4A5):c.4631G>A (p.Trp1544Ter) rs104886293
NM_033380.3(COL4A5):c.465+1G>A rs2066070056
NM_033380.3(COL4A5):c.4706+1G>T rs1569508998
NM_033380.3(COL4A5):c.4809T>G (p.Tyr1603Ter) rs104886299
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter) rs281874753
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter) rs104886306
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp) rs1569489328
NM_033380.3(COL4A5):c.574G>T (p.Gly192Trp) rs104886060
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu) rs104886074
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_033380.3(COL4A5):c.799G>C (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.874G>C (p.Gly292Arg) rs104886073
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter) rs541633673
NM_052989.3(IFT122):c.2285del (p.Lys762fs) rs2081339145
NM_053274.3(GLMN):c.1179_1181del (p.Asn393del) rs773442562
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer) rs762515373
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_057176.3(BSND):c.10G>T (p.Glu4Ter) rs121908145
NM_057176.3(BSND):c.262G>T (p.Glu88Ter) rs771232166
NM_058195.4(CDKN2A):c.194-3653G>T rs1800586
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs) rs587782170
NM_058216.3(RAD51C):c.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.525dup (p.Cys176fs) rs768793789
NM_058216.3(RAD51C):c.653_654del (p.Glu218fs) rs587782286
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu) rs750730042
NM_138694.4(PKHD1):c.1854del (p.Gly619fs) rs1807328785
NM_138694.4(PKHD1):c.1992G>A (p.Trp664Ter) rs2128203862
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) rs755183117
NM_138694.4(PKHD1):c.3229-2A>C rs1057516872
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) rs398124486
NM_138694.4(PKHD1):c.547C>T (p.Gln183Ter) rs2128231908
NM_138694.4(PKHD1):c.5751+1G>A rs775638588
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.7514T>A (p.Leu2505Ter) rs769645972
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs) rs797044745
NM_138694.4(PKHD1):c.8208G>A (p.Trp2736Ter) rs2151512054
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_138694.4(PKHD1):c.9901G>T (p.Glu3301Ter) rs757099749
NM_139058.3(ARX):c.1406_1415del (p.Ala469fs) rs2147320332
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144997.7(FLCN):c.1062+2T>G rs886039370
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter) rs398124530
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter) rs587782069
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs) rs759057396
NM_152419.3(HGSNAT):c.525dup (p.Val176fs) rs483352895
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter) rs1563700205
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.6865+1G>T rs202046738
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter) rs759455327
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs) rs746478265
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_152732.5(RSPH9):c.801GAA[1] (p.Lys268del) rs397515340
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.520-1G>T rs759262253
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) rs1554558363
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_170707.4(LMNA):c.1608+1G>A rs267607592
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln) rs118192200
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) rs730882175
NM_173551.5(ANKS6):c.130_157del (p.Glu44fs) rs1564236717
NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer) rs587777025
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1143del (p.Glu382fs) rs606231132
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_176824.3(BBS7):c.1002del (p.Asn335fs) rs762782183
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_177965.4(CFAP418):c.124del (p.Arg42fs) rs1563477144
NM_181426.2(CCDC39):c.1045del (p.Thr349fs) rs747980515
NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs) rs1174553107
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386
NM_181458.4(PAX3):c.812G>A (p.Arg271His) rs774528745
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs) rs397507169
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) rs1060499805
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter) rs80356598
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.5193-1G>A rs111033373
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_198334.3(GANAB):c.152_153del (p.Arg51fs) rs752158933
NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs) rs879255641
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter) rs948418225
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
NM_198488.5(FAM83H):c.2029C>T (p.Gln677Ter) rs137854440
NM_198488.5(FAM83H):c.973C>T (p.Arg325Ter) rs137854435
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs) rs764196809
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser) rs2125506459
NM_201253.3(CRB1):c.4006-1G>T rs752804194
NM_201253.3(CRB1):c.506del (p.Gly169fs) rs1167867158
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_203290.4(POLR1C):c.916_920del (p.Tyr306fs) rs767639108
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter) rs137852218
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.4(USH2A):c.1144-2A>T rs2037686445
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) rs397517988
NM_206933.4(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter) rs2037013894
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs) rs2102545818
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.4(USH2A):c.4046del (p.Ser1349fs) rs2034899784
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) rs121918279
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn) rs121918280
NM_207122.2(EXT2):c.906_907dup (p.His303fs) rs886041199
NM_212482.4(FN1):c.2918A>G (p.Tyr973Cys) rs137854488
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213653.4(HJV):c.220del (p.Val74fs) rs1553769758
NR_003051.3(RMRP):n.-19_-3dup rs727502778
NR_003051.3(RMRP):n.-22_-3dup rs1554651411
NR_003051.3(RMRP):n.-7_1dup rs752934195
NR_003051.3(RMRP):n.147G>A rs753874439
m.3271T>C rs199474658

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