ClinVar Miner

List of variants reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7041
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025 0.98238
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr) rs1803274 0.18493
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
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_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
UGT1A1*6 rs4148323 0.00891
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
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_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
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_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549 0.00252
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_004771.4(MMP20):c.954-2A>T rs140213840 0.00224
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
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_020634.3(GDF3):c.796C>T (p.Arg266Cys) rs140926412 0.00188
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
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_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_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_183065.4(TMEM107):c.*759C>T rs201787275 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00156
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 0.00150
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_003060.4(SLC22A5):c.-149G>A rs57262206 0.00144
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_016363.5(GP6):c.172C>T (p.Arg58Cys) rs199588110 0.00125
NM_213607.3(DNAAF19):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_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
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_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
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_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
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_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
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_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
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_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00069
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 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_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350 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_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter) rs77200626 0.00064
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619 0.00064
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) rs138435128 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 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_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter) rs200002200 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_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter) rs72558199 0.00053
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_000350.3(ABCA4):c.6730-19G>A rs375179475 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
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_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 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_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
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_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val) rs138594222 0.00040
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 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_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 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_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_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) rs201820739 0.00035
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_001002294.3(FMO3):c.913G>T (p.Glu305Ter) rs61753344 0.00035
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter) rs121908002 0.00035
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_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 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_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) rs104894658 0.00033
NM_003104.6(SORD):c.458C>A (p.Ala153Asp) rs145813597 0.00033
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000587.4(C7):c.2350+2T>C rs201240159 0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 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_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_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 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_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 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_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 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_139125.4(MASP1):c.1931C>T (p.Thr644Met) rs146714674 0.00029
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 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_001492.6(GDF1):c.1091T>C (p.Met364Thr) rs374016704 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) rs121434367 0.00027
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_004562.3(PRKN):c.101_102del (p.Gln34fs) rs55777503 0.00027
NM_213653.4(HJV):c.959G>T (p.Gly320Val) rs74315323 0.00027
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 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_001609.4(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280 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_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
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_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_004562.3(PRKN):c.110C>T (p.Pro37Leu) rs148990138 0.00024
NM_005186.4(CAPN1):c.267+2T>C rs199559271 0.00024
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys) rs199882533 0.00024
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) rs189261858 0.00023
NM_001199799.2(ILDR1):c.866T>G (p.Leu289Trp) rs141450561 0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154 0.00022
NM_001358263.1(HK1):c.-196+1241G>A rs545102911 0.00022
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 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_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000406.3(GNRHR):c.416G>A (p.Arg139His) rs104893842 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly) rs138815960 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_000350.3(ABCA4):c.1592A>G (p.Glu531Gly) rs145718830 0.00020
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121 0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923 0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
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_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 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_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_001252024.2(TRPM1):c.281A>G (p.Tyr94Cys) rs200514769 0.00019
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) rs201747279 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_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys) rs200067423 0.00019
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00019
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_031889.3(ENAM):c.2763del (p.Asp921fs) rs529979202 0.00019
NM_145207.3(AFG2A):c.1714+1G>A rs149688478 0.00019
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760 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_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588 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_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 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_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) rs28941783 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_004130.4(GYG1):c.143+3G>C rs370652040 0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_006556.4(PMVK):c.79G>T (p.Glu27Ter) rs373000976 0.00016
NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter) rs80358194 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_152269.5(MTRFR):c.210del (p.Gly72fs) rs576462794 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NM_000049.4(ASPA):c.212G>A (p.Arg71His) rs104894553 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_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551 0.00015
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys) rs147611168 0.00014
NM_000275.3(OCA2):c.1182+1G>A rs371963034 0.00014
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 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_000666.3(ACY1):c.575dup (p.Ser192fs) rs770702363 0.00014
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) rs199766569 0.00014
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp) rs121908083 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) rs201221237 0.00014
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 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_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) rs201650281 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 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_020774.4(MIB1):c.2827G>T (p.Val943Phe) rs200035428 0.00013
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter) rs121434233 0.00013
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 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_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_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala) rs370411488 0.00012
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 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.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372 0.00011
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 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_007059.4(KPTN):c.776C>A (p.Ser259Ter) rs374298314 0.00011
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln) rs200792883 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) rs121918208 0.00011
NM_020442.6(VARS2):c.2467-2A>G rs200075594 0.00011
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) rs774312182 0.00011
NM_173483.4(CYP4F22):c.59dup (p.Ile21fs) rs531800013 0.00011
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 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_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter) rs756854513 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_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) rs104893614 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807 0.00010
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_006796.3(AFG3L2):c.121C>T (p.Arg41Ter) rs1324490374 0.00010
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs) rs766372684 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly) rs199501657 0.00010
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530 0.00009
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 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_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 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_000283.4(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823 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_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 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_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 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_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 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_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 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_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter) rs373919408 0.00009
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_020297.4(ABCC9):c.1320+1G>A rs139620148 0.00009
NM_020533.3(MCOLN1):c.406-2A>G rs104886461 0.00009
NM_021615.5(CHST6):c.1A>T (p.Met1Leu) rs755563003 0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249 0.00009
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 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_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 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_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter) rs121908613 0.00008
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024 0.00008
NM_007289.4(MME):c.1342C>T (p.Arg448Ter) rs149905705 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr) rs370011798 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 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_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg) rs121918237 0.00007
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_001364171.2(ODAD1):c.1502+5G>A rs201133219 0.00007
NM_001378609.3(OTOGL):c.1585C>T (p.Gln529Ter) rs371465450 0.00007
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_005262.3(GFER):c.373C>T (p.Gln125Ter) rs771809901 0.00007
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761 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_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_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 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_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723 0.00006
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527 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_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.499-1G>A rs863224964 0.00006
NM_000071.3(CBS):c.572C>T (p.Thr191Met) rs121964973 0.00006
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr) rs368500877 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000193.4(SHH):c.676G>A (p.Ala226Thr) rs104894043 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_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) rs121913020 0.00006
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 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.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) rs140812286 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001142800.2(EYS):c.35T>C (p.Met12Thr) rs755947942 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842 0.00006
NM_001256545.2(MEGF10):c.2857-2A>G rs199750143 0.00006
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter) rs199636364 0.00006
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_003052.5(SLC34A1):c.464T>C (p.Leu155Pro) rs369770760 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003124.5(SPR):c.448A>G (p.Arg150Gly) rs104893665 0.00006
NM_003124.5(SPR):c.751A>T (p.Lys251Ter) rs121917747 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln) rs147757966 0.00006
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) rs121908611 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala) rs199562456 0.00006
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00006
NM_014249.4(NR2E3):c.481del (p.Thr161fs) rs759339012 0.00006
NM_015665.6(AAAS):c.1066_1067del (p.Leu356fs) rs763216820 0.00006
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_015937.6(PIGT):c.494-2A>G rs200790673 0.00006
NM_018127.7(ELAC2):c.2009del (p.Cys670fs) rs761385155 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_022552.5(DNMT3A):c.2711C>T (p.Pro904Leu) rs149095705 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_152269.5(MTRFR):c.96_99dup (p.Pro34fs) rs863223926 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_198586.3(NHLRC1):c.468del (p.Gly158fs) rs757954108 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NM_000048.4(ASL):c.544C>T (p.Arg182Ter) rs398123126 0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205 0.00005
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954 0.00005
NM_000400.4(ERCC2):c.1867dup (p.Val623fs) rs756630156 0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 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_000550.3(TYRP1):c.1226C>T (p.Ala409Val) rs148248971 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_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) rs752509098 0.00005
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter) rs200761047 0.00005
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001206744.2(TPO):c.2395G>A (p.Glu799Lys) rs121908085 0.00005
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter) rs560339163 0.00005
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter) rs121908886 0.00005
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_004260.4(RECQL4):c.1391-1G>A rs117642173 0.00005
NM_004260.4(RECQL4):c.3072del (p.Val1026fs) rs386833852 0.00005
NM_005149.3(TBX19):c.856C>T (p.Arg286Ter) rs74315376 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) rs746531116 0.00005
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu) rs761261049 0.00005
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) rs199922550 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_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_172369.5(C1QC):c.100G>A (p.Gly34Arg) rs200206736 0.00005
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter) rs199476189 0.00005
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_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 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_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00004
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter) rs1043139127 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 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_000187.4(HGD):c.16-1G>A rs397515347 0.00004
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) rs151344631 0.00004
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 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.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00004
NM_000270.4(PNP):c.172C>T (p.Arg58Ter) rs104894460 0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412 0.00004
NM_000350.3(ABCA4):c.1958G>A (p.Arg653His) rs141823837 0.00004
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395 0.00004
NM_000350.3(ABCA4):c.4773+3A>G rs759672616 0.00004
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) rs146591309 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) rs587781948 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys) rs199476360 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000498.3(CYP11B2):c.1398+1G>A rs539836429 0.00004
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978 0.00004
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser) rs146093755 0.00004
NM_000519.4(HBD):c.-118C>T rs549964658 0.00004
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000550.3(TYRP1):c.859C>T (p.Arg287Ter) rs1435975707 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000593.6(TAP1):c.1564C>T (p.Gln522Ter) rs967210854 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) rs774258585 0.00004
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter) rs587780082 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_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001252024.2(TRPM1):c.2848C>T (p.Arg950Trp) rs727504182 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001264.5(CDSN):c.175A>T (p.Lys59Ter) rs387906841 0.00004
NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp) rs137852608 0.00004
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619 0.00004
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) rs552069173 0.00004
NM_001312673.2(PCYT1A):c.968dup (p.Ser323fs) rs587777196 0.00004
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter) rs760433806 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_002161.6(IARS1):c.2752C>T (p.Gln918Ter) rs1231537024 0.00004
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844 0.00004
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr) rs587777404 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) rs757958943 0.00004
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 0.00004
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter) rs757793925 0.00004
NM_006214.4(PHYH):c.530A>G (p.Asp177Gly) rs770262329 0.00004
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter) rs72553885 0.00004
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp) rs28940289 0.00004
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter) rs1257804746 0.00004
NM_015072.5(TTLL5):c.2132_2135dup (p.Met712fs) rs781415819 0.00004
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) rs527236031 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443 0.00004
NM_020751.3(COG6):c.511C>T (p.Arg171Ter) rs200177031 0.00004
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter) rs749465164 0.00004
NM_021939.4(FKBP10):c.343C>T (p.Arg115Ter) rs370972136 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) rs761714818 0.00004
NM_022552.5(DNMT3A):c.2311C>T (p.Arg771Ter) rs779626155 0.00004
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179 0.00004
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met) rs201994921 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_024715.4(TXNDC15):c.379C>T (p.Arg127Ter) rs371232361 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721 0.00004
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp) rs281875208 0.00004
NM_133261.3(GIPC3):c.662C>T (p.Thr221Ile) rs761543680 0.00004
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) rs775224457 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_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_176787.5(PIGN):c.1674+1G>C rs376355678 0.00004
NM_176787.5(PIGN):c.2340T>A (p.Tyr780Ter) rs749334082 0.00004
NM_181697.3(PRDX1):c.515-1G>T rs751828470 0.00004
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) rs398124579 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter) rs368970223 0.00004
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.3121C>T (p.Arg1041Trp) rs746485916 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) rs758355520 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) rs771298943 0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) rs121964972 0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met) rs149119723 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000094.4(COL7A1):c.6501+1G>C rs759644973 0.00003
NM_000137.4(FAH):c.1A>G (p.Met1Val) rs1057517972 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp) rs439898 0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly) rs188269735 0.00003
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His) rs281864919 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000277.3(PAH):c.136G>A (p.Gly46Ser) rs74603784 0.00003
NM_000277.3(PAH):c.168+5G>C rs62507288 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222 0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939 0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000350.3(ABCA4):c.1937+1G>A rs61752401 0.00003
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His) rs61750121 0.00003
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter) rs145420388 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1680-886A>G rs397508266 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter) rs747319628 0.00003
NM_000925.4(PDHB):c.301A>G (p.Met101Val) rs747573712 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter) rs1445287184 0.00003
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787 0.00003
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His) rs63751001 0.00003
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) rs151107837 0.00003
NM_001194998.2(CEP152):c.2959C>T (p.Arg987Ter) rs267606718 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001277115.2(DNAH11):c.983-1G>T rs777285019 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr) rs761554853 0.00003
NM_001364171.2(ODAD1):c.598-2A>G rs606231239 0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666 0.00003
NM_001478.5(B4GALNT1):c.490+1G>A rs377445018 0.00003
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714 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_003104.6(SORD):c.328C>T (p.Arg110Ter) rs745509632 0.00003
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003119.4(SPG7):c.1553-2A>G rs1229749476 0.00003
NM_003322.6(TULP1):c.1495+1G>A rs281865168 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala) rs587777222 0.00003
NM_005186.4(CAPN1):c.618_619del (p.Gly208fs) rs778722037 0.00003
NM_005422.4(TECTA):c.6162+1G>A rs1045921265 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_005857.5(ZMPSTE24):c.794A>G (p.Asn265Ser) rs281875371 0.00003
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) rs374017889 0.00003
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter) rs121918224 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_014797.3(ZBTB24):c.958C>T (p.Arg320Ter) rs387907104 0.00003
NM_014967.5(FAN1):c.2616del (p.Asp873fs) rs750056424 0.00003
NM_015087.5(SPART):c.1369C>T (p.Arg457Ter) rs200373703 0.00003
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter) rs754637718 0.00003
NM_015959.4(TMX2):c.614G>A (p.Arg205Gln) rs370455806 0.00003
NM_018075.5(ANO10):c.337+1G>A rs765592794 0.00003
NM_018131.5(CEP55):c.307C>T (p.Gln103Ter) rs770774477 0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) rs267606739 0.00003
NM_020427.3(SLURP1):c.256G>A (p.Gly86Arg) rs28937888 0.00003
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys) rs368074297 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931 0.00003
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=) rs776221160 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_025114.4(CEP290):c.7048C>T (p.Gln2350Ter) rs375548374 0.00003
NM_025137.4(SPG11):c.2834+1G>T rs312262749 0.00003
NM_031448.6(C19orf12):c.-2C>T rs397514477 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211 0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_153766.3(KCNJ1):c.939_942del (p.Glu315fs) rs780691086 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_173551.5(ANKS6):c.1973-3C>G rs397514257 0.00003
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys) rs543697946 0.00003
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714 0.00003
NM_198282.4(STING1):c.463G>A (p.Val155Met) rs587777610 0.00003
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter) rs769256027 0.00003
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp) rs121908464 0.00003
NM_205850.3(SLC24A5):c.184C>T (p.Gln62Ter) rs147601285 0.00003
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys) rs137854527 0.00003
NC_000011.10:g.47337730dup rs397515963 0.00002
NM_000016.6(ACADM):c.244dup (p.Trp82fs) rs786204566 0.00002
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly) rs764268346 0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572 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_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689 0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 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_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000080.4(CHRNE):c.803-2A>G rs1320610655 0.00002
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000092.5(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser) rs1297118863 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000153.4(GALC):c.391T>C (p.Trp131Arg) rs746507078 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581 0.00002
NM_000207.3(INS):c.266G>A (p.Arg89His) rs28933985 0.00002
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) rs1238694184 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_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000277.3(PAH):c.809G>A (p.Arg270Lys) rs62514950 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000317.3(PTS):c.84-3C>G rs1230781262 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_000330.4(RS1):c.325G>C (p.Gly109Arg) rs104894934 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000336.3(SCNN1B):c.1542+1G>A rs550424284 0.00002
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) rs61749446 0.00002
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051 0.00002
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663 0.00002
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs) rs886041297 0.00002
NM_000434.4(NEU1):c.1034C>T (p.Thr345Ile) rs750975716 0.00002
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys) rs28933392 0.00002
NM_000448.3(RAG1):c.2210G>A (p.Arg737His) rs104894286 0.00002
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe) rs1482760341 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) rs36210737 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000553.6(WRN):c.2665C>T (p.Arg889Ter) rs774765029 0.00002
NM_000554.6(CRX):c.206G>A (p.Arg69His) rs775073228 0.00002
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) rs72551319 0.00002
NM_001034853.2(RPGR):c.2543del (p.Glu848fs) rs1233849070 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) rs587782885 0.00002
NM_001077365.2(POMT1):c.1196del (p.Leu399fs) rs768144522 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 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_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001134407.3(GRIN2A):c.2441T>C (p.Ile814Thr) rs780654733 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053 0.00002
NM_001195248.2(APTX):c.559C>T (p.Gln187Ter) rs770579215 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001206999.2(CIT):c.658C>T (p.Arg220Ter) rs202076791 0.00002
NM_001244710.2(GFPT1):c.686-2A>G rs1011196447 0.00002
NM_001256317.3(TMPRSS3):c.646C>T (p.Arg216Cys) rs145913750 0.00002
NM_001287.6(CLCN7):c.139C>T (p.Gln47Ter) rs948980711 0.00002
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys) rs1028371920 0.00002
NM_001298.3(CNGA3):c.668G>A (p.Arg223Gln) rs762668060 0.00002
NM_001298.3(CNGA3):c.830G>A (p.Arg277His) rs778114016 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897 0.00002
NM_001371986.1(UNC80):c.1513C>T (p.Arg505Ter) rs767633598 0.00002
NM_001374623.1(PNPLA1):c.514G>A (p.Asp172Asn) rs373148099 0.00002
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) rs763393580 0.00002
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter) rs587781756 0.00002
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln) rs121908891 0.00002
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter) rs1373388852 0.00002
NM_003172.4(SURF1):c.516-2A>G rs782682492 0.00002
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) rs121908683 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004425.4(ECM1):c.157C>T (p.Arg53Ter) rs121909115 0.00002
NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr) rs747427602 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_004928.3(CFAP410):c.286G>A (p.Glu96Lys) rs774614339 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter) rs142947311 0.00002
NM_005807.6(PRG4):c.3496C>T (p.Arg1166Ter) rs773621375 0.00002
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter) rs757577162 0.00002
NM_006580.4(CLDN16):c.243G>T (p.Leu81Phe) rs104893729 0.00002
NM_006659.4(TUBGCP2):c.1101_1102del (p.Asp369fs) rs748286228 0.00002
NM_006846.4(SPINK5):c.1302+4A>T rs201269335 0.00002
NM_006907.4(PYCR1):c.540+1G>A rs752297179 0.00002
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_012233.3(RAB3GAP1):c.899+1G>A rs587777152 0.00002
NM_012275.3(IL36RN):c.80T>C (p.Leu27Pro) rs387906914 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789 0.00002
NM_016006.6(ABHD5):c.730dup (p.Thr244fs) rs754573124 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter) rs370283860 0.00002
NM_017534.6(MYH2):c.3331C>T (p.Gln1111Ter) rs758264018 0.00002
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=) rs190057175 0.00002
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640 0.00002
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys) rs769266169 0.00002
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter) rs771945804 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter) rs1030149008 0.00002
NM_020771.4(HACE1):c.994C>T (p.Arg332Ter) rs759641985 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile) rs1372719653 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024809.5(TCTN2):c.1506-2A>G rs374349989 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938 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_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_145207.3(AFG2A):c.394C>T (p.Gln132Ter) rs1220351376 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln) rs374704368 0.00002
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter) rs567106336 0.00002
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter) rs375077588 0.00002
NM_199242.3(UNC13D):c.551G>A (p.Trp184Ter) rs754292065 0.00002
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys) rs760544654 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NR_023343.3(RNU4ATAC):n.118T>C rs863225423 0.00002
NC_000006.12:g.99593111G>C rs1554264613 0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) rs875989859 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000018.4(ACADVL):c.1077+1G>T rs140989450 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090 0.00001
NM_000018.4(ACADVL):c.753-2A>C rs398123092 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198 0.00001
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000026.4(ADSL):c.1187G>A (p.Arg396His) rs763542069 0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) rs180177184 0.00001
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) rs777701149 0.00001
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935 0.00001
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492 0.00001
NM_000049.4(ASPA):c.634+1G>T rs753871454 0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr) rs774323189 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536 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.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
NM_000053.4(ATP7B):c.1708-1G>C rs137853280 0.00001
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp) rs374172791 0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997 0.00001
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) rs768671894 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076 0.00001
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val) rs1395504465 0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro) rs377144951 0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000059.4(BRCA2):c.3046G>T (p.Glu1016Ter) rs748508287 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter) rs80358711 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.632-3C>G rs568027879 0.00001
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter) rs80358946 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.2182C>T (p.Gln728Ter) rs2054180829 0.00001
NM_000071.3(CBS):c.463G>A (p.Ala155Thr) rs1429138569 0.00001
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212 0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.1930+1G>A rs771002652 0.00001
NM_000083.3(CLCN1):c.2172+1G>T rs1273524525 0.00001
NM_000083.3(CLCN1):c.817G>A (p.Val273Met) rs921162119 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser) rs72651658 0.00001
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter) rs72656314 0.00001
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654 0.00001
NM_000091.5(COL4A3):c.4001G>A (p.Gly1334Glu) rs375290088 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156 0.00001
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs) rs1557719455 0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) rs28941476 0.00001
NM_000104.4(CYP1B1):c.840C>A (p.Cys280Ter) rs778202993 0.00001
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219 0.00001
NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg) rs899478069 0.00001
NM_000127.3(EXT1):c.1633-2A>G rs1233701691 0.00001
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2786del (p.Tyr929fs) rs779480428 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu) rs779040832 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter) rs121913120 0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys) rs587781682 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.1610del (p.Glu537fs) rs762060817 0.00001
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter) rs749529161 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 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.974C>T (p.Pro325Leu) rs111033794 0.00001
NM_000157.4(GBA1):c.1505G>A (p.Arg502His) rs80356772 0.00001
NM_000157.4(GBA1):c.595_596del (p.Leu199fs) rs749714463 0.00001
NM_000157.4(GBA1):c.701G>A (p.Gly234Glu) rs74462743 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000159.4(GCDH):c.880C>T (p.Arg294Trp) rs1864390545 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser) rs104894811 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000173.7(GP1BA):c.986G>A (p.Trp329Ter) rs1312683854 0.00001
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter) rs63750909 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.2779dup (p.Ile927fs) rs587782277 0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs) rs63751327 0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter) rs63749873 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000188.3(HK1):c.281G>A (p.Arg94Gln) rs1176654400 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 0.00001
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) rs762903007 0.00001
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter) rs267605358 0.00001
NM_000218.3(KCNQ1):c.1590+1G>A rs767921776 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.332A>G (p.Tyr111Cys) rs199472678 0.00001
NM_000218.3(KCNQ1):c.477+1G>A rs762814879 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter) rs147542208 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000255.4(MMUT):c.109C>T (p.Gln37Ter) rs1487859107 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.607G>A (p.Gly203Arg) rs778702777 0.00001
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693 0.00001
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln) rs397516253 0.00001
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys) rs1183634153 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp) rs121965053 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.1199+17G>A rs62508613 0.00001
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp) rs76542238 0.00001
NM_000277.3(PAH):c.441+5G>T rs62507321 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.847A>T (p.Ile283Phe) rs62517168 0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170 0.00001
NM_000283.4(PDE6B):c.1920+2T>C rs763996159 0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000292.3(PHKA2):c.400C>T (p.Gln134Ter) rs1286357227 0.00001
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter) rs1578130676 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 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.124C>T (p.Arg42Cys) rs774572099 0.00001
NM_000312.4(PROC):c.595C>T (p.Arg199Ter) rs1456533664 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000330.4(RS1):c.590G>A (p.Arg197His) rs281865355 0.00001
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000350.3(ABCA4):c.1239+1G>C rs765707028 0.00001
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter) rs886044725 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) rs61749428 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter) rs61752428 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.5018+2T>C rs61750562 0.00001
NM_000350.3(ABCA4):c.5196+1G>A rs61751377 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000350.3(ABCA4):c.560G>A (p.Arg187His) rs202198282 0.00001
NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter) rs1296165092 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000371.4(TTR):c.118G>A (p.Val40Ile) rs121918093 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000372.5(TYR):c.1036+1G>A rs763715899 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.1075C>T (p.Gln359Ter) rs62645909 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.864A>T (p.Leu288Phe) rs371985121 0.00001
NM_000380.4(XPA):c.545_546dup (p.Lys183Ter) rs757098056 0.00001
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258 0.00001
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) rs121918386 0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350 0.00001
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly) rs1192702664 0.00001
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter) rs137854592 0.00001
NM_000400.4(ERCC2):c.139G>A (p.Gly47Arg) rs1360631927 0.00001
NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter) rs778479250 0.00001
NM_000400.4(ERCC2):c.820A>T (p.Lys274Ter) rs779850024 0.00001
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) rs72555359 0.00001
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442 0.00001
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) rs58730926 0.00001
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter) rs121913577 0.00001
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr) rs374403765 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295 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_000434.4(NEU1):c.679G>A (p.Gly227Arg) rs769765227 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000436.4(OXCT1):c.971G>A (p.Gly324Glu) rs121909301 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) rs199474685 0.00001
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys) rs104894285 0.00001
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp) rs199776076 0.00001
NM_000460.4(THPO):c.469C>T (p.Arg157Ter) rs1412486198 0.00001
NM_000478.6(ALPL):c.1172G>A (p.Arg391His) rs1442918125 0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) rs121918000 0.00001
NM_000481.4(AMT):c.665G>A (p.Arg222His) rs562695274 0.00001
NM_000481.4(AMT):c.996dup (p.His333fs) rs2049025668 0.00001
NM_000487.6(ARSA):c.1210+1G>A rs80338820 0.00001
NM_000487.6(ARSA):c.684+1G>A rs146371968 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter) rs397508378 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000521.4(HEXB):c.1165dup (p.Gln389fs) rs1749680051 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596 0.00001
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000532.5(PCCB):c.1399-2_1399-1del rs1317123493 0.00001
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter) rs1315729938 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.529C>T (p.Arg177Cys) rs193922757 0.00001
NM_000540.3(RYR1):c.631+1G>T rs374937694 0.00001
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) rs120074128 0.00001
NM_000545.8(HNF1A):c.1136C>G (p.Pro379Arg) rs371717826 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 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_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
NM_000553.6(WRN):c.3130dup (p.Thr1044fs) rs1563376595 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.3836+1G>A rs780883601 0.00001
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter) rs121909505 0.00001
NM_000760.4(CSF3R):c.2215C>T (p.Gln739Ter) rs1650335810 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001005373.4(LRSAM1):c.1815del (p.Asp607fs) rs747130246 0.00001
NM_001006658.3(CR2):c.634+1G>A rs370988625 0.00001
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter) rs1183899324 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001013838.3(CARMIL2):c.1109C>A (p.Ser370Ter) rs903777283 0.00001
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln) rs755975980 0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) rs374328858 0.00001
NM_001023570.4(IQCB1):c.812del (p.Ser271fs) rs748559081 0.00001
NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter) rs746612410 0.00001
NM_001033855.3(DCLRE1C):c.464+1G>A rs1162344514 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter) rs772295894 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.544C>T (p.Gln182Ter) rs376561094 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001080476.3(GRXCR1):c.79C>T (p.Arg27Ter) rs769983282 0.00001
NM_001100.4(ACTA1):c.990+1G>T rs372686280 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025 0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334 0.00001
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240 0.00001
NM_001128178.3(NPHP1):c.1270-1G>A rs376492641 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) rs863225135 0.00001
NM_001139.3(ALOX12B):c.1148C>T (p.Thr383Met) rs760428119 0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) rs397514526 0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly) rs137853333 0.00001
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu) rs121918632 0.00001
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys) rs121918811 0.00001
NM_001166114.2(PNPLA6):c.316-2A>T rs148045000 0.00001
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097 0.00001
NM_001173990.3(TMEM216):c.191del (p.Leu64fs) rs1858737558 0.00001
NM_001182.5(ALDH7A1):c.1566-1G>T rs140845195 0.00001
NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter) rs1270423610 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) rs483352866 0.00001
NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) rs267606794 0.00001
NM_001206744.2(TPO):c.1618C>T (p.Arg540Ter) rs121908082 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001242957.3(MAK):c.1195_1196del (p.Thr399fs) rs1445845736 0.00001
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs) rs397517376 0.00001
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter) rs797044676 0.00001
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) rs750519430 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter) rs397514608 0.00001
NM_001297.5(CNGB1):c.2759G>A (p.Trp920Ter) rs1304758484 0.00001
NM_001297.5(CNGB1):c.2867del (p.Ile956fs) rs1231250334 0.00001
NM_001330691.3(CEP78):c.1424del (p.Val475fs) rs1196886096 0.00001
NM_001353921.2(ARHGEF9):c.1088G>A (p.Arg363Gln) rs1556335112 0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646 0.00001
NM_001364905.1(LRBA):c.5646-2A>T rs1297757024 0.00001
NM_001364905.1(LRBA):c.7009C>T (p.Arg2337Ter) rs1268711491 0.00001
NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter) rs1057518900 0.00001
NM_001365536.1(SCN9A):c.258+1G>A rs755067851 0.00001
NM_001371986.1(UNC80):c.4678C>T (p.Arg1560Ter) rs940692104 0.00001
NM_001374385.1(ATP8B1):c.2600G>A (p.Arg867His) rs745546266 0.00001
NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter) rs765889649 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter) rs759024519 0.00001
NM_001379110.1(SLC9A6):c.-56-43C>T rs1556614733 0.00001
NM_001379500.1(COL18A1):c.1187_1200dup (p.Pro401fs) rs768663340 0.00001
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter) rs753824908 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001399.5(EDA):c.866G>A (p.Arg289His) rs876657641 0.00001
NM_001611.5(ACP5):c.369C>A (p.Tyr123Ter) rs747619825 0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762 0.00001
NM_001849.4(COL6A2):c.1396-1G>A rs1331260332 0.00001
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter) rs374669775 0.00001
NM_001876.4(CPT1A):c.167C>T (p.Pro56Leu) rs1249954316 0.00001
NM_001942.4(DSG1):c.133C>T (p.Arg45Ter) rs1182196436 0.00001
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543 0.00001
NM_002180.3(IGHMBP2):c.547+1G>A rs1057518588 0.00001
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter) rs141698985 0.00001
NM_002185.5(IL7R):c.616C>T (p.Arg206Ter) rs201559094 0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012 0.00001
NM_002225.5(IVD):c.456+2T>C rs398123683 0.00001
NM_002439.5(MSH3):c.2179C>T (p.Arg727Ter) rs376667075 0.00001
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) rs121434590 0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His) rs80338827 0.00001
NM_002662.5(PLD1):c.2430-1G>A rs760657350 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His) rs780953863 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002775.5(HTRA1):c.589C>T (p.Arg197Ter) rs1438223502 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.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002860.4(ALDH18A1):c.1375C>T (p.Arg459Ter) rs887933055 0.00001
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln) rs748925635 0.00001
NM_002887.4(RARS1):c.1452+1G>A rs1358682351 0.00001
NM_002905.5(RDH5):c.160C>T (p.Arg54Ter) rs769035379 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter) rs754008420 0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030 0.00001
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906 0.00001
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter) rs370777371 0.00001
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) rs121918642 0.00001
NM_003172.4(SURF1):c.107-2A>G rs782726390 0.00001
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter) rs1187982748 0.00001
NM_003322.6(TULP1):c.1199G>A (p.Arg400Gln) rs748972748 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys) rs753874848 0.00001
NM_003560.4(PLA2G6):c.1771C>T (p.Arg591Trp) rs1043378899 0.00001
NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser) rs768180196 0.00001
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835 0.00001
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly) rs72549402 0.00001
NM_003742.4(ABCB11):c.2178+1G>A rs1459273753 0.00001
NM_003742.4(ABCB11):c.3148C>T (p.Arg1050Cys) rs72549398 0.00001
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln) rs758069019 0.00001
NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter) rs121908492 0.00001
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter) rs121908490 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873 0.00001
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter) rs398124008 0.00001
NM_004168.4(SDHA):c.1338del (p.His447fs) rs1735791499 0.00001
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) rs778207102 0.00001
NM_004174.4(SLC9A3):c.805G>A (p.Ala269Thr) rs869312807 0.00001
NM_004183.4(BEST1):c.400C>G (p.Leu134Val) rs753614067 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_004183.4(BEST1):c.934G>A (p.Asp312Asn) rs281865277 0.00001
NM_004211.5(SLC6A5):c.1430del (p.Ser477fs) rs767695215 0.00001
NM_004260.4(RECQL4):c.2755+1G>A rs373130543 0.00001
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) rs868064163 0.00001
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724 0.00001
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394 0.00001
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256 0.00001
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875 0.00001
NM_004614.5(TK2):c.389G>A (p.Arg130Gln) rs281865492 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_004629.2(FANCG):c.652C>T (p.Gln218Ter) rs1209807088 0.00001
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) rs121909668 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005027.4(PIK3R2):c.598+1G>A rs1269675188 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005186.4(CAPN1):c.1534C>T (p.Arg512Cys) rs753019478 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005548.3(KARS1):c.787T>G (p.Phe263Val) rs772410450 0.00001
NM_005677.4(COLQ):c.679C>T (p.Arg227Ter) rs770045897 0.00001
NM_005732.4(RAD50):c.2821C>T (p.Gln941Ter) rs397507177 0.00001
NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter) rs1554099776 0.00001
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter) rs1406678014 0.00001
NM_005857.5(ZMPSTE24):c.1204-1G>A rs61751009 0.00001
NM_005861.4(STUB1):c.823_824del (p.Leu275fs) rs748984540 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) rs761320763 0.00001
NM_006017.3(PROM1):c.1142-1G>A rs752619497 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_006214.4(PHYH):c.830C>A (p.Ala277Glu) rs1211539675 0.00001
NM_006269.2(RP1):c.788-2A>T rs1422250479 0.00001
NM_006494.4(ERF):c.652C>T (p.Arg218Ter) rs1425504754 0.00001
NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu) rs1159593580 0.00001
NM_006580.4(CLDN16):c.437G>A (p.Arg146His) rs772241737 0.00001
NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu) rs772475828 0.00001
NM_006767.4(LZTR1):c.516_517insT (p.Val173fs) rs1472913919 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys) rs387906889 0.00001
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) rs1598820860 0.00001
NM_007055.4(POLR3A):c.3337-11T>C rs1564613755 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NM_007289.4(MME):c.1313_1314del (p.His438fs) rs765778616 0.00001
NM_007289.4(MME):c.1781-2A>G rs765231758 0.00001
NM_007289.4(MME):c.202C>T (p.Arg68Ter) rs201692212 0.00001
NM_007289.4(MME):c.440-2A>C rs200435950 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs) rs80357509 0.00001
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs) rs80357729 0.00001
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 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_007315.4(STAT1):c.1011_1012del (p.Val339fs) rs768767763 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) rs80356730 0.00001
NM_012233.3(RAB3GAP1):c.1471C>T (p.Arg491Ter) rs752667359 0.00001
NM_012398.3(PIP5K1C):c.1127+1G>A rs1473218681 0.00001
NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter) rs955766374 0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) rs758052634 0.00001
NM_014874.4(MFN2):c.748C>T (p.Arg250Trp) rs373107074 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015102.5(NPHP4):c.1228C>T (p.Gln410Ter) rs1237376396 0.00001
NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter) rs201785518 0.00001
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter) rs751444506 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_015665.6(AAAS):c.1159C>T (p.Gln387Ter) rs763820204 0.00001
NM_015665.6(AAAS):c.464G>A (p.Arg155His) rs758440592 0.00001
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr) rs1325914775 0.00001
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter) rs763075073 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_016239.4(MYO15A):c.8548C>T (p.Arg2850Ter) rs548514957 0.00001
NM_016302.4(CRBN):c.1255C>T (p.Arg419Ter) rs121918368 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg) rs749110767 0.00001
NM_017617.5(NOTCH1):c.166C>T (p.Arg56Ter) rs1348892740 0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) rs150877512 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_017837.4(PIGV):c.607C>T (p.Arg203Cys) rs149690056 0.00001
NM_017841.4(SDHAF2):c.37-1G>C rs761956866 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_018075.5(ANO10):c.1219-1G>T rs1318561721 0.00001
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer) rs772345347 0.00001
NM_018082.6(POLR3B):c.2570+1G>A rs753943393 0.00001
NM_018129.4(PNPO):c.471C>A (p.Tyr157Ter) rs148597698 0.00001
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241 0.00001
NM_018136.5(ASPM):c.727C>T (p.Arg243Ter) rs1463609963 0.00001
NM_018191.4(RCBTB1):c.930G>T (p.Trp310Cys) rs772592456 0.00001
NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter) rs374351172 0.00001
NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter) rs387907110 0.00001
NM_018699.4(PRDM5):c.974del (p.Cys325fs) rs766853150 0.00001
NM_018965.4(TREM2):c.313del (p.Ala105fs) rs386834141 0.00001
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034 0.00001
NM_019098.5(CNGB3):c.1207C>T (p.Arg403Ter) rs770786127 0.00001
NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter) rs1269750663 0.00001
NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser) rs1057519343 0.00001
NM_020376.4(PNPLA2):c.613dup (p.Leu205fs) rs796065308 0.00001
NM_020435.4(GJC2):c.148G>T (p.Glu50Ter) rs1255327063 0.00001
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 0.00001
NM_020451.3(SELENON):c.2T>A (p.Met1Lys) rs1174570887 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020549.5(CHAT):c.631C>G (p.Pro211Ala) rs121912815 0.00001
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) rs104894342 0.00001
NM_020661.4(AICDA):c.441C>A (p.Cys147Ter) rs104894323 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_020919.4(ALS2):c.2737C>T (p.Arg913Ter) rs371140239 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224 0.00001
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys) rs267607146 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022167.4(XYLT2):c.1159C>T (p.Arg387Trp) rs775198482 0.00001
NM_022575.4(VPS16):c.1903C>T (p.Arg635Ter) rs1422519039 0.00001
NM_022787.4(NMNAT1):c.199G>T (p.Val67Phe) rs756903689 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692 0.00001
NM_024306.5(FA2H):c.379C>T (p.Arg127Ter) rs1210045384 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter) rs1402362655 0.00001
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter) rs952398755 0.00001
NM_025114.4(CEP290):c.1593C>A (p.Tyr531Ter) rs763559949 0.00001
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.6031C>T (p.Arg2011Ter) rs750073051 0.00001
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter) rs312262728 0.00001
NM_025137.4(SPG11):c.255G>A (p.Trp85Ter) rs957519261 0.00001
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759 0.00001
NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs) rs786200876 0.00001
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) rs515726205 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter) rs1273181642 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032119.4(ADGRV1):c.12895C>T (p.Arg4299Ter) rs756954694 0.00001
NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro) rs104894703 0.00001
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp) rs1391712320 0.00001
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) rs116840778 0.00001
NM_058216.3(RAD51C):c.905-2A>C rs779582317 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.905-2del rs876658652 0.00001
NM_138387.4(G6PC3):c.758G>A (p.Arg253His) rs118203968 0.00001
NM_144585.4(SLC22A12):c.1096G>C (p.Gly366Arg) rs1047976958 0.00001
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529 0.00001
NM_145207.3(AFG2A):c.1607del (p.Leu536fs) rs1730087475 0.00001
NM_145239.3(PRRT2):c.880-34G>A rs1239450803 0.00001
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter) rs397514539 0.00001
NM_152305.3(POGLUT1):c.652C>T (p.Arg218Ter) rs587777294 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter) rs752242512 0.00001
NM_152443.3(RDH12):c.451C>G (p.His151Asp) rs104894475 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313 0.00001
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter) rs121434313 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_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) rs774694340 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_172250.3(MMAA):c.651dup (p.Gly218fs) rs1314623572 0.00001
NM_182943.3(PLOD2):c.1417C>T (p.Arg473Ter) rs750664256 0.00001
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter) rs780451185 0.00001
NM_183050.4(BCKDHB):c.633+1G>A rs398124589 0.00001
NM_183075.3(CYP2U1):c.1396C>T (p.Arg466Ter) rs766380148 0.00001
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser) rs766889023 0.00001
NM_183075.3(CYP2U1):c.769C>T (p.Arg257Ter) rs1437641531 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter) rs998200637 0.00001
NM_198428.3(BBS9):c.1693+1G>A rs1295000119 0.00001
NM_199069.2(NDUFAF3):c.2T>C (p.Met1Thr) rs121918136 0.00001
NM_199242.3(UNC13D):c.2135_2137del (p.Ile712_Gly713delinsSer) rs1402670923 0.00001
NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter) rs769243366 0.00001
NM_201253.3(CRB1):c.1149dup (p.Ile384fs) rs1660517678 0.00001
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys) rs765676754 0.00001
NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr) rs752559648 0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter) rs387907020 0.00001
NM_205767.3(MICOS13):c.260-2A>G rs1064797230 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193 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.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 0.00001
NM_206933.4(USH2A):c.3812-2A>G rs758733024 0.00001
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter) rs104894418 0.00001
NM_206937.2(LIG4):c.833G>A (p.Arg278His) rs104894421 0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187 0.00001
NM_213599.3(ANO5):c.1407+5G>A rs281865464 0.00001
NM_213599.3(ANO5):c.1993_1996dup (p.Pro666fs) rs780201679 0.00001
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter) rs753138577 0.00001
GRCh37/hg19 10q22.2(chr10:76780340-76781989)x1
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1
GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1
GRCh37/hg19 11p15.4(chr11:5198944-5255663)x1
GRCh37/hg19 11p15.5(chr11:763344-764433)x0
GRCh37/hg19 11q13.4(chr11:70505933-70507872)x1
GRCh37/hg19 11q22.3(chr11:108188097-108188249)x0
GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1
GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1
GRCh37/hg19 12p13.32(chr12:4599065-4645385)x1
GRCh37/hg19 12p13.33(chr12:1136914-1599259)x1
GRCh37/hg19 12q12(chr12:46230372-46233279)x1
GRCh37/hg19 12q13.12(chr12:49433507-49437211)x1
GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1
GRCh37/hg19 12q24.21(chr12:116534474-116549317)x1
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1
GRCh37/hg19 13q33.1(chr13:102105185-102379160)x1
GRCh37/hg19 13q34(chr13:113158346-115091756)x1
GRCh37/hg19 14q13.1-13.3(chr14:34904407-36784136)x1
GRCh37/hg19 14q22.2(chr14:55369039-55369381)x1
GRCh37/hg19 14q31.3(chr14:88401076-88417092)x1
GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1
GRCh37/hg19 15q11.2(chr15:22070540-23262343)x1
GRCh37/hg19 15q11.2(chr15:22736246-23265381)x1
GRCh37/hg19 15q11.2(chr15:22757538-23411062)x1
GRCh37/hg19 15q11.2(chr15:22757538-23412276)x1
GRCh37/hg19 15q11.2(chr15:22833499-23577516)x1
GRCh37/hg19 15q11.2(chr15:22833525-23262343)x1
GRCh37/hg19 15q11.2(chr15:22833525-23264190)x1
GRCh37/hg19 15q11.2(chr15:22833525-23264865)x1
GRCh37/hg19 15q11.2(chr15:22833525-23265045)x1
GRCh37/hg19 15q11.2(chr15:22833525-23265556)x1
GRCh37/hg19 15q11.2(chr15:22833525-23412276)x1
GRCh37/hg19 15q11.2(chr15:22835916-23411062)x1
GRCh37/hg19 15q11.2-12(chr15:22833525-27193380)x4
GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1
GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4
GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1
GRCh37/hg19 15q11.2-13.1(chr15:23406271-28566579)x1
GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1
GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1
GRCh37/hg19 15q13.1(chr15:28171273-28171400)x1
GRCh37/hg19 15q13.1-13.3(chr15:29488634-31342785)x1
GRCh37/hg19 15q13.2-13.3(chr15:30696635-32783786)x3
GRCh37/hg19 15q13.2-13.3(chr15:30844281-32404100)x1
GRCh37/hg19 15q13.2-13.3(chr15:30850147-32404100)x1
GRCh37/hg19 15q13.2-13.3(chr15:30896376-32465219)x1
GRCh37/hg19 15q13.2-13.3(chr15:30898046-32691186)x1
GRCh37/hg19 15q13.2-13.3(chr15:30899058-32446187)x1
GRCh37/hg19 15q13.3(chr15:31779397-31947455)x3
GRCh37/hg19 15q14(chr15:38556565-38591748)x1
GRCh37/hg19 15q15.3(chr15:43873425-43941042)x1
GRCh37/hg19 15q15.3(chr15:43888054-43941032)x0
GRCh37/hg19 15q15.3(chr15:43888606-43941032)x0
GRCh37/hg19 15q15.3(chr15:43891870-43910920)x0
GRCh37/hg19 15q15.3(chr15:43903117-43906674)x0
GRCh37/hg19 15q21.1(chr15:44912388-44925835)x1
GRCh37/hg19 15q21.1(chr15:48413242-48414233)x0
GRCh37/hg19 15q21.1(chr15:48805746-48808559)x1
GRCh37/hg19 15q21.2(chr15:51633882-51696951)x1
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3
GRCh37/hg19 15q26.1(chr15:93486073-93486298)x1
GRCh37/hg19 15q26.3(chr15:100692817-100750319)x0
GRCh37/hg19 15q26.3(chr15:99434554-99550600)x1
GRCh37/hg19 16p11.2(chr16:28497668-28497971)x1
GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1
GRCh37/hg19 16p11.2(chr16:29495010-30200397)x1
GRCh37/hg19 16p11.2(chr16:29495010-30212427)x1
GRCh37/hg19 16p11.2(chr16:29674300-30200008)x1
GRCh37/hg19 16p11.2(chr16:29674568-30199897)x3
GRCh37/hg19 16p11.2(chr16:29675050-30200008)x1
GRCh37/hg19 16p11.2(chr16:29675050-30218221)x1
GRCh37/hg19 16p11.2(chr16:29675050-30218384)x1
GRCh37/hg19 16p11.2(chr16:29824309-29825959)x1
GRCh37/hg19 16p11.2(chr16:29824376-29825959)x1
GRCh37/hg19 16p12.2(chr16:23619185-23619333)x1
GRCh37/hg19 16p12.2(chr16:23640525-23641790)x1
GRCh37/hg19 16p13.11(chr16:14927578-16481355)x1
GRCh37/hg19 16p13.11(chr16:14927709-16364041)x1
GRCh37/hg19 16p13.11(chr16:16248485-16259790)x1
GRCh37/hg19 16p13.11(chr16:16259360-16302623)x1
GRCh37/hg19 16p13.11-12.3(chr16:15458733-18188719)x1
GRCh37/hg19 16p13.2(chr16:9732254-9880365)x1
GRCh37/hg19 16p13.2(chr16:9916121-10032408)x1
GRCh37/hg19 16p13.2(chr16:9934504-9934961)x1
GRCh37/hg19 16p13.3(chr16:2098168-2100457)x1
GRCh37/hg19 16p13.3(chr16:2114273-2122984)x1
GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1
GRCh37/hg19 16p13.3(chr16:5127446-5129808)x1
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1
GRCh37/hg19 16q23.1(chr16:78420757-78466649)x1
GRCh37/hg19 16q24.1-24.2(chr16:86544176-88110267)x1
GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1
GRCh37/hg19 16q24.3(chr16:88909114-88909575)x0
GRCh37/hg19 16q24.3(chr16:89815067-89883023)x1
GRCh37/hg19 16q24.3(chr16:89869667-89874775)x1
GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1
GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1
GRCh37/hg19 17p11.2(chr17:19552285-19561175)x1
GRCh37/hg19 17p12(chr17:14095306-15466762)x3
GRCh37/hg19 17p12(chr17:14095306-15472344)x1
GRCh37/hg19 17p12(chr17:14095306-15472344)x3
GRCh37/hg19 17p12(chr17:14110127-15472344)x1
GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1
GRCh37/hg19 17p13.1(chr17:7999945-8015514)x1
GRCh37/hg19 17p13.3(chr17:2575949-2579900)x1
GRCh37/hg19 17q11.2(chr17:29422328-29422387)x1
GRCh37/hg19 17q11.2(chr17:29490394-29509683)x3
GRCh37/hg19 17q11.2(chr17:29679275-29679432)x1
GRCh37/hg19 17q12(chr17:34842544-36104875)x3
GRCh37/hg19 17q12(chr17:36047375-36104875)x1
GRCh37/hg19 17q21.31(chr17:41209069-41215968)x3
GRCh37/hg19 17q21.31(chr17:43738327-44172067)x1
GRCh37/hg19 17q22(chr17:54671585-54672283)x1
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3
GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3
GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1
GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1
GRCh37/hg19 18q22.2(chr18:67671387-67809623)x1
GRCh37/hg19 18q22.3-23(chr18:71740696-78005231)x1
GRCh37/hg19 19p13.2(chr19:11210899-11222315)x3
GRCh37/hg19 19p13.2(chr19:11213340-11218190)x3
GRCh37/hg19 19p13.2(chr19:11217241-11224438)x1
GRCh37/hg19 19p13.2(chr19:11221328-11224438)x1
GRCh37/hg19 19p13.2(chr19:11233850-11242283)x1
GRCh37/hg19 19p13.2(chr19:11240189-11241992)x1
GRCh37/hg19 19q13.12(chr19:36237320-36237748)x1
GRCh37/hg19 19q13.12(chr19:36572335-36574143)x3
GRCh37/hg19 19q13.2(chr19:40978529-40978697)x1
GRCh37/hg19 1p12(chr1:120254646-120254783)x0
GRCh37/hg19 1p21.2(chr1:100680373-100684303)x0
GRCh37/hg19 1p21.2(chr1:100680373-100684304)x0
GRCh37/hg19 1p36.13(chr1:17345376-17345453)x1
GRCh37/hg19 1p36.13(chr1:17380443-17380514)x1
GRCh37/hg19 1p36.22(chr1:12020703-12027148)x3
GRCh37/hg19 1p36.23(chr1:7721786-7721926)x1
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1
GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1
GRCh37/hg19 1q21.1-21.2(chr1:146057275-147581622)x1
GRCh37/hg19 1q21.1-21.2(chr1:146405854-147597284)x1
GRCh37/hg19 1q21.1-21.2(chr1:146626685-147597284)x1
GRCh37/hg19 1q21.3(chr1:151372064-151384872)x1
GRCh37/hg19 1q22(chr1:155207925-155210903)x1
GRCh37/hg19 1q25.1(chr1:173803611-173803657)x1
GRCh37/hg19 1q44(chr1:245704069-249212562)x1
GRCh37/hg19 20p11.23(chr20:18492869-18496380)x1
GRCh37/hg19 20p11.23(chr20:18492869-18496380)x3
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3
GRCh37/hg19 20q13.33(chr20:62037997-62103816)x1
GRCh37/hg19 20q13.33(chr20:62103521-62103816)x1
GRCh37/hg19 21q22.12(chr21:36164432-36421257)x1
GRCh37/hg19 21q22.3(chr21:47533920-48084286)x1
GRCh37/hg19 22q11.1(chr22:17669229-17669337)x1
GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1
GRCh37/hg19 22q11.21(chr22:18893888-18923800)x1
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1
GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3
GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1
GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1
GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1
GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1
GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1
GRCh37/hg19 22q12.1(chr22:29092889-29095925)x1
GRCh37/hg19 22q12.2(chr22:31018955-31019070)x0
GRCh37/hg19 22q12.2(chr22:32174085-32180861)x1
GRCh37/hg19 22q12.2-12.3(chr22:32160961-32363977)x1
GRCh37/hg19 22q13.1(chr22:40552119-40763622)x1
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1
GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1
GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1
GRCh37/hg19 22q13.33(chr22:51123013-51220722)x1
GRCh37/hg19 22q13.33(chr22:51153345-51162581)x1
GRCh37/hg19 22q13.33(chr22:51158612-51160865)x1
GRCh37/hg19 2p11.2(chr2:88007281-90260248)x1
GRCh37/hg19 2p21(chr2:47630331-47672796)x1
GRCh37/hg19 2p21(chr2:47698104-47698201)x1
GRCh37/hg19 2p21(chr2:47707835-47710088)x1
GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1
GRCh37/hg19 2q13(chr2:110814357-111177015)x0
GRCh37/hg19 2q13(chr2:110873265-110970348)x0
GRCh37/hg19 2q13(chr2:110881368-110962545)x0
GRCh37/hg19 2q14.2(chr2:121981917-122363471)x1
GRCh37/hg19 2q21.3(chr2:135848568-135891603)x1
GRCh37/hg19 2q21.3(chr2:135848568-135891603)x3
GRCh37/hg19 2q22.2-22.3(chr2:142681355-146293674)x1
GRCh37/hg19 2q23.1(chr2:149216328-149260078)x1
GRCh37/hg19 2q23.3(chr2:152492741-152495898)x1
GRCh37/hg19 2q24.3(chr2:166915080-166915198)x1
GRCh37/hg19 2q31.2(chr2:179534100-179616766)x1
GRCh37/hg19 2q33.2(chr2:204820359-204821488)x0
GRCh37/hg19 2q34(chr2:211421441-211473283)x1
GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1
GRCh37/hg19 3p12.2(chr3:81539558-81810668)x1
GRCh37/hg19 3q22.3(chr3:136219065-136365036)x1
GRCh37/hg19 3q26.1-26.2(chr3:164432414-167873834)x1
GRCh37/hg19 3q27.1(chr3:182759355-182759538)x1
GRCh37/hg19 3q29(chr3:193355741-193355854)x1
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3
GRCh37/hg19 4p16.2(chr4:5731034-5772656)x1
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1
GRCh37/hg19 4q22.1(chr4:88344058-89061168)x1
GRCh37/hg19 4q22.1(chr4:90168931-90874569)x3
GRCh37/hg19 4q24(chr4:102942671-103682051)x1
GRCh37/hg19 4q24(chr4:107092252-107092427)x1
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1
GRCh37/hg19 5p13.2(chr5:37142412-37148370)x1
GRCh37/hg19 5q12.3-13.1(chr5:64111112-67101123)x1
GRCh37/hg19 5q13.2(chr5:70247768-70247818)x0
GRCh37/hg19 5q13.3(chr5:73981086-73992931)x1
GRCh37/hg19 5q14.1(chr5:77396777-77396849)x1
GRCh37/hg19 5q34(chr5:161520834-161543892)x1
GRCh37/hg19 6p21.1(chr6:42672103-42672349)x1
GRCh37/hg19 6p25.3-25.2(chr6:393153-3751765)x1
GRCh37/hg19 6q14.1(chr6:76545618-76545673)x1
GRCh37/hg19 6q22.33(chr6:129612759-129622017)x3
GRCh37/hg19 6q23.2(chr6:133782252-133804253)x1
GRCh37/hg19 6q25.3(chr6:157405796-157406039)x1
GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1
GRCh37/hg19 6q26(chr6:162394334-162622284)x1
GRCh37/hg19 6q26(chr6:162451912-162622284)x0
GRCh37/hg19 6q26(chr6:162622163-162864505)x1
GRCh37/hg19 6q26(chr6:162683557-162683797)x0
GRCh37/hg19 6q26(chr6:162864342-162864505)x1
GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1
GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1
GRCh37/hg19 7p13(chr7:44192900-44193062)x1
GRCh37/hg19 7p22.1(chr7:6022454-6057676)x1
GRCh37/hg19 7q11.21(chr7:65546790-65548161)x0
GRCh37/hg19 7q11.23(chr7:74191613-74191693)x0
GRCh37/hg19 7q11.23(chr7:74191613-74191693)x1
GRCh37/hg19 7q11.23(chr7:74191613-74191693)x3
GRCh37/hg19 7q22.1(chr7:101639800-101926382)x1
GRCh37/hg19 7q31.2(chr7:117246726-117251865)x1
GRCh37/hg19 7q34(chr7:140426294-141883173)x1
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1
GRCh37/hg19 7q35(chr7:146471363-146560213)x1
GRCh37/hg19 7q35(chr7:146504465-146536996)x1
GRCh37/hg19 8p11.22-11.21(chr8:38602986-41615655)x1
GRCh37/hg19 8q12.3(chr8:65536960-65537096)x1
GRCh37/hg19 8q22.2(chr8:100523332-100523740)x1
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3
GRCh37/hg19 9q22.32(chr9:98209194-98279102)x1
GRCh37/hg19 9q31.2(chr9:108484815-108484902)x0
GRCh37/hg19 9q33.1(chr9:119448976-119461984)x1
GRCh37/hg19 9q34.11(chr9:130374683-130374719)x1
GRCh37/hg19 9q34.13(chr9:135209995-135210114)x1
GRCh37/hg19 9q34.13(chr9:135668021-135804259)x1
GRCh37/hg19 9q34.13(chr9:135668021-135804259)x3
GRCh37/hg19 9q34.13(chr9:135776976-135779204)x1
GRCh37/hg19 Xp11.22(chrX:53253922-53254071)x0
GRCh37/hg19 Xp11.3-11.23(chrX:44879855-46541970)x1
GRCh37/hg19 Xp11.4(chrX:37639331-37670170)x0
GRCh37/hg19 Xp11.4(chrX:38059567-38170026)x0
GRCh37/hg19 Xp11.4(chrX:38059567-38180342)x1
GRCh37/hg19 Xp21.1(chrX:31645790-31697703)x1
GRCh37/hg19 Xp21.1(chrX:31791729-31986631)x1
GRCh37/hg19 Xp21.1(chrX:31792077-31931430)x0
GRCh37/hg19 Xp21.1(chrX:31838092-31854936)x0
GRCh37/hg19 Xp21.1(chrX:31838092-31893490)x0
GRCh37/hg19 Xp21.1(chrX:31854835-31893490)x0
GRCh37/hg19 Xp21.1(chrX:32235033-32235180)x2
GRCh37/hg19 Xp21.1(chrX:32235033-32235180)x4
GRCh37/hg19 Xp21.1(chrX:32456356-32490428)x0
GRCh37/hg19 Xp21.1(chrX:32563274-32717411)x2
GRCh37/hg19 Xp21.1(chrX:32827610-32978683)x0
GRCh37/hg19 Xp22.11(chrX:23352993-23412302)x0
GRCh37/hg19 Xp22.12(chrX:21393016-21675906)x0
GRCh37/hg19 Xp22.12(chrX:21393016-21675906)x1
GRCh37/hg19 Xp22.13(chrX:18593474-18593610)x1
GRCh37/hg19 Xp22.2(chrX:10491132-10535643)x1
GRCh37/hg19 Xp22.2-22.13(chrX:16582625-18323335)x0
GRCh37/hg19 Xp22.31(chrX:6451786-7894160)x0
GRCh37/hg19 Xp22.31(chrX:6515107-8123681)x1
GRCh37/hg19 Xp22.31(chrX:6968337-7894160)x0
GRCh37/hg19 Xp22.31(chrX:7137497-7272667)x0
GRCh37/hg19 Xp22.31(chrX:7137717-7268302)x0
GRCh37/hg19 Xp22.33(chrX:585079-619564)x1
GRCh37/hg19 Xp22.33(chrX:585079-619564)x3
GRCh37/hg19 Xp22.33(chrX:591633-595561)x1
GRCh37/hg19 Xp22.33-22.31(chrX:200855-6069814)x1
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3
GRCh37/hg19 Xq22.1(chrX:100604873-100630304)x0
GRCh37/hg19 Xq22.2(chrX:103031924-103044327)x1
GRCh37/hg19 Xq25(chrX:122744787-123234447)x2
GRCh37/hg19 Xq26.2(chrX:132887509-132888204)x0
GRCh37/hg19 Xq26.3(chrX:135730386-135732556)x0
GRCh37/hg19 Xq28(chrX:154124352-154563736)x2
NC_000008.11:g.39018852GA[1]
NC_000009.12:g.35657756C>G rs727502774
NC_000009.12:g.35657921C>T rs915919453
NC_000011.10:g.2171856C>T rs1372180906
NC_000011.10:g.5227101A>T rs33980857
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000017.11:g.50188796del
NC_000017.11:g.8173448G>C rs75008470
NC_000018.9:g.77748581_77748614del34 rs535089924
NC_000023.11:g.70027902_70027919del rs397516668
NC_012920.1(MT-TK):m.8344A>G rs118192098
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del) rs387906308
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000018.4(ACADVL):c.1077+2T>C rs1057516370
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs) rs749873354
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.880del (p.Leu294fs)
NM_000021.4(PSEN1):c.1133G>A (p.Gly378Glu) rs63750323
NM_000021.4(PSEN1):c.263C>T (p.Pro88Leu) rs1897874329
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.520_522del (p.Leu174del) rs2140080563
NM_000021.4(PSEN1):c.617G>T (p.Gly206Val) rs63750082
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) rs63750231
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val) rs63751235
NM_000022.4(ADA):c.763G>T (p.Glu255Ter) rs2123517896
NM_000022.4(ADA):c.790del (p.Trp264fs) rs1555844006
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000023.4(SGCA):c.864_870del (p.Asp289fs) rs2144501029
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.164dup (p.Glu56fs) rs2148388748
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.201del (p.Met67fs)
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
NM_000033.4(ABCD1):c.832dup (p.Glu278fs) rs2148389899
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000037.4(ANK1):c.2559-1G>A
NM_000037.4(ANK1):c.4376del (p.Gly1459fs)
NM_000038.6(APC):c.1370C>G (p.Ser457Ter) rs1060503333
NM_000038.6(APC):c.1987C>T (p.Gln663Ter) rs730881240
NM_000038.6(APC):c.233_236del (p.Asp78fs) rs1064793020
NM_000038.6(APC):c.2893_2896del (p.Asn965fs) rs2149879574
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3581C>A (p.Ser1194Ter) rs2149894857
NM_000038.6(APC):c.3595_3596del (p.Lys1199fs) rs864622106
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.4099C>T (p.Gln1367Ter) rs121913328
NM_000038.6(APC):c.4796C>G (p.Ser1599Ter) rs1554086212
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.5957del (p.Pro1986fs) rs2149953403
NM_000038.6(APC):c.994C>T (p.Arg332Ter) rs775126020
NM_000041.4(APOE):c.497TCC[1] (p.Leu167del) rs515726148
NM_000043.6(FAS):c.46_47del (p.Val15_Ala16insTer) rs1848019699
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000043.6(FAS):c.770C>A (p.Ala257Asp) rs1848674892
NM_000043.6(FAS):c.815A>G (p.Glu272Gly) rs1589491089
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000045.4(ARG1):c.666-2A>G rs1774035827
NM_000045.4(ARG1):c.702_703insAGACT (p.Gly235fs)
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro) rs1554079320
NM_000048.4(ASL):c.680T>C (p.Leu227Pro)
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000051.3(ATM):c.8269del rs1555135341
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.4(ATM):c.1514_1515del (p.Phe505fs) rs1060501529
NM_000051.4(ATM):c.1564G>T (p.Glu522Ter) rs2080118610
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.257del (p.Thr86fs)
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.4(ATM):c.349del (p.Cys117fs)
NM_000051.4(ATM):c.37_49del (p.Arg13fs)
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer) rs771936821
NM_000051.4(ATM):c.4769del (p.Leu1590fs)
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.484C>T (p.Gln162Ter) rs1565357383
NM_000051.4(ATM):c.492G>A (p.Trp164Ter) rs1555059530
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.5178del (p.Cys1726fs)
NM_000051.4(ATM):c.5554dup (p.Gln1852fs) rs1555107356
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.5931del (p.Phe1977fs) rs1565493368
NM_000051.4(ATM):c.5986G>T (p.Glu1996Ter) rs2084252910
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6108T>G (p.Tyr2036Ter) rs3092826
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6298del (p.Tyr2100fs) rs2136167939
NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter) rs863224578
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.7591dup (p.Met2531fs)
NM_000051.4(ATM):c.7622T>G (p.Leu2541Arg) rs876658933
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.7927+2T>C
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8695del (p.Ile2899fs) rs1555142816
NM_000051.4(ATM):c.8766dup (p.Val2923fs) rs876660813
NM_000051.4(ATM):c.8781_8786+2del rs1591307438
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.945dup (p.Tyr316fs) rs2135265770
NM_000052.7(ATP7A):c.3529C>T (p.Gln1177Ter) rs2078030343
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter) rs778490238
NM_000053.4(ATP7B):c.1947-2A>G
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) rs779904655
NM_000053.4(ATP7B):c.2304del (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln) rs28942074
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.3060+2T>C rs2139045834
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3664G>A (p.Asp1222Asn) rs2138663905
NM_000053.4(ATP7B):c.3700del rs1957054299
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs) rs1957043255
NM_000053.4(ATP7B):c.3904-2A>G rs1057517233
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.4374_4375del (p.Arg1459fs) rs2138386032
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000055.4(BCHE):c.435delinsAG (p.Phe146fs) rs398124632
NM_000057.4(BLM):c.1108C>T (p.Gln370Ter) rs1895931425
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter) rs1596267627
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1029del (p.Lys343fs) rs80359260
NM_000059.4(BRCA2):c.1265del (p.Asn422fs) rs80359273
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs) rs80359277
NM_000059.4(BRCA2):c.1490_1493del (p.Ser497fs) rs2072414606
NM_000059.4(BRCA2):c.1499del (p.Gly500fs) rs397507591
NM_000059.4(BRCA2):c.1705del (p.Gln569fs) rs80359300
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1855C>T (p.Gln619Ter) rs80358476
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs) rs80359314
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter) rs431825288
NM_000059.4(BRCA2):c.2244_2245del (p.Tyr748_Ser749delinsTer) rs879255442
NM_000059.4(BRCA2):c.2534_2535dup (p.Ser846fs) rs2137487476
NM_000059.4(BRCA2):c.2847T>A (p.Tyr949Ter) rs886040449
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs) rs80359365
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs) rs80359377
NM_000059.4(BRCA2):c.3396dup (p.Pro1133fs) rs876658427
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3682_3685del (p.Asn1228fs) rs80359396
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs) rs397507683
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs) rs80359435
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4440T>G (p.Tyr1480Ter) rs397507719
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs) rs80359448
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4554del (p.Glu1518fs) rs80359458
NM_000059.4(BRCA2):c.4613_4619delinsTTTTG (p.Ser1538fs)
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs) rs80359462
NM_000059.4(BRCA2):c.469A>T (p.Lys157Ter) rs1593886887
NM_000059.4(BRCA2):c.4829_4830del (p.Val1610fs) rs80359468
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter) rs80358721
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5116_5119del (p.Asn1706fs) rs276174853
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs) rs80359526
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter) rs80359527
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.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter) rs80358870
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer) rs80359592
NM_000059.4(BRCA2):c.6447_6448dup (p.Lys2150fs) rs397507858
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter) rs398122559
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs) rs80359613
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro) rs28897743
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs) rs397507907
NM_000059.4(BRCA2):c.728del (p.Asn243fs) rs886040697
NM_000059.4(BRCA2):c.7443del (p.Thr2482fs) rs80359652
NM_000059.4(BRCA2):c.7617+1G>A rs397507922
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter) rs863224468
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000059.4(BRCA2):c.794-12_798del
NM_000059.4(BRCA2):c.7974C>A (p.Tyr2658Ter) rs80359025
NM_000059.4(BRCA2):c.7976+1G>A rs81002873
NM_000059.4(BRCA2):c.8172_8175dup (p.Tyr2726fs) rs397507964
NM_000059.4(BRCA2):c.8364G>A (p.Trp2788Ter) rs397507981
NM_000059.4(BRCA2):c.8438del (p.Gly2813fs) rs886040775
NM_000059.4(BRCA2):c.8557A>T (p.Lys2853Ter) rs1057517865
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs) rs80359724
NM_000059.4(BRCA2):c.8909G>A (p.Trp2970Ter) rs1555288397
NM_000059.4(BRCA2):c.8935A>T (p.Lys2979Ter) rs2072903033
NM_000059.4(BRCA2):c.8953+1G>T rs81002882
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9257-1G>C rs81002889
NM_000059.4(BRCA2):c.9318G>A (p.Trp3106Ter) rs771203198
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs) rs786203318
NM_000059.4(BRCA2):c.9501+1G>A rs397508058
NM_000061.3(BTK):c.1106T>C (p.Leu369Pro) rs1926524710
NM_000061.3(BTK):c.1880_1883dup (p.Ile629fs) rs2147424002
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) rs128621210
NM_000061.3(BTK):c.215del (p.Asn72fs) rs886041148
NM_000061.3(BTK):c.487del (p.Met163fs)
NM_000061.3(BTK):c.758_767del (p.Arg253fs)
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000062.3(SERPING1):c.1309C>T (p.Gln437Ter) rs2135327898
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys) rs28940870
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000062.3(SERPING1):c.685+1G>A rs113263597
NM_000062.3(SERPING1):c.914_915dup (p.Lys306fs)
NM_000063.6(C2):c.1215T>A (p.Tyr405Ter)
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000064.4(C3):c.1119+1G>A
NM_000064.4(C3):c.2558del (p.Asn853fs)
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000069.3(CACNA1S):c.2691G>C (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000069.3(CACNA1S):c.887_899del (p.Asp296fs)
NM_000070.3(CAPN3):c.1193+6T>A rs1555421532
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1469delinsTC (p.Arg490fs) rs2141199752
NM_000070.3(CAPN3):c.1504_1505del (p.Ile502fs) rs2141199913
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) rs727503839
NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs) rs2054085839
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.1999dup (p.Glu667fs) rs886044004
NM_000070.3(CAPN3):c.2092dup (p.Arg698fs)
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.632+1G>A rs2053447095
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.946-2A>G rs1595826673
NM_000071.3(CBS):c.816T>A (p.Cys272Ter) rs528689432
NM_000074.3(CD40LG):c.268C>T (p.Gln90Ter)
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.3(CD40LG):c.687T>G (p.Phe229Leu) rs2148553785
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000080.4(CHRNE):c.1220-1G>C rs373710822
NM_000080.4(CHRNE):c.1255G>T (p.Glu419Ter) rs754975887
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser) rs1597621396
NM_000082.4(ERCC8):c.593_594dup (p.Asp199fs) rs1748929695
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp) rs1460714146
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg) rs762754992
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter) rs1586510870
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly) rs1803111906
NM_000083.3(CLCN1):c.2172+1G>A rs1273524525
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.562+1G>C rs2116837885
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) rs1802495428
NM_000085.5(CLCNKB):c.1313G>A (p.Arg438His)
NM_000088.4(COL1A1):c.1111G>C (p.Gly371Arg)
NM_000088.4(COL1A1):c.1840G>T (p.Gly614Ter) rs1907214691
NM_000088.4(COL1A1):c.2208del (p.Gly737fs)
NM_000088.4(COL1A1):c.2398-1G>A rs193922147
NM_000088.4(COL1A1):c.2471del (p.Gly824fs) rs2144553293
NM_000088.4(COL1A1):c.2829+1G>C rs72653156
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3550G>A (p.Gly1184Arg) rs1906591346
NM_000088.4(COL1A1):c.3815-1G>C
NM_000088.4(COL1A1):c.386del (p.Pro129fs) rs72667014
NM_000088.4(COL1A1):c.386dup (p.Gly130fs) rs72667014
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.4(COL1A1):c.590G>T (p.Gly197Val) rs72667028
NM_000088.4(COL1A1):c.599G>T (p.Gly200Val) rs72667029
NM_000088.4(COL1A1):c.757C>T (p.Arg253Ter) rs72645318
NM_000088.4(COL1A1):c.868G>C (p.Gly290Arg) rs1555574410
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.4(COL1A2):c.1252G>A (p.Gly418Ser) rs72658110
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg) rs72658129
NM_000089.4(COL1A2):c.2045G>A (p.Gly682Asp) rs72658159
NM_000089.4(COL1A2):c.2323G>A (p.Gly775Arg)
NM_000089.4(COL1A2):c.2774G>A (p.Gly925Asp)
NM_000089.4(COL1A2):c.2845G>A (p.Gly949Ser) rs72659312
NM_000089.4(COL1A2):c.371G>A (p.Gly124Asp) rs72656359
NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser) rs906553840
NM_000090.4(COL3A1):c.1457G>T (p.Gly486Val) rs1688274077
NM_000090.4(COL3A1):c.1662+1G>A rs587779535
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.4(COL3A1):c.2338-2A>G rs794728050
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.4(COL3A1):c.3050G>T (p.Gly1017Val)
NM_000090.4(COL3A1):c.3527G>T (p.Gly1176Val) rs1553509726
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu) rs2072040353
NM_000091.5(COL4A3):c.2881+1G>A rs1559899827
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3619G>C (p.Gly1207Arg) rs1167411352
NM_000092.5(COL4A4):c.1897G>T (p.Gly633Ter)
NM_000092.5(COL4A4):c.2312del (p.Gly771fs)
NM_000092.5(COL4A4):c.2435_2436del (p.Glu812fs) rs1448532668
NM_000092.5(COL4A4):c.3918del (p.Gly1307fs)
NM_000092.5(COL4A4):c.914_930+29del rs1553683757
NM_000093.5(COL5A1):c.1502del (p.Pro501fs) rs1085307855
NM_000093.5(COL5A1):c.1989+1G>A rs1836462685
NM_000093.5(COL5A1):c.2159dup (p.Gly721fs) rs863223469
NM_000093.5(COL5A1):c.3060del (p.Gly1021fs) rs1838166153
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.5(COL5A1):c.4474G>T (p.Gly1492Cys) rs863223458
NM_000093.5(COL5A1):c.4638del (p.Ser1547fs) rs1839084305
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.5656C>T (p.Gln1886Ter) rs2044329211
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg) rs762162799
NM_000094.4(COL7A1):c.6128G>A (p.Gly2043Glu) rs2107674192
NM_000094.4(COL7A1):c.6718delinsGA (p.Pro2240fs)
NM_000094.4(COL7A1):c.846+2T>G
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup) rs193922900
NM_000095.3(COMP):c.1502G>A (p.Gly501Asp) rs1555791425
NM_000095.3(COMP):c.805G>A (p.Asp269Asn) rs2145903436
NM_000095.3(COMP):c.831_851del (p.Asp277_Pro283del) rs2055186059
NM_000096.4(CP):c.1208+1G>A rs1553762556
NM_000096.4(CP):c.2527_2528del (p.Ser843fs) rs1725821400
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter) rs1057517492
NM_000098.3(CPT2):c.833_834del (p.Leu277_Ser278insTer)
NM_000101.4(CYBA):c.171del (p.Lys58fs) rs763678131
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
NM_000104.4(CYP1B1):c.896_897del (p.Ser299fs)
NM_000107.3(DDB2):c.702+1G>T
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.284+28G>A
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000117.3(EMD):c.177_178del (p.Tyr59_Ser60delinsTer) rs2067875732
NM_000123.4(ERCC5):c.2411_2447del (p.Ser804fs) rs1882855292
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs) rs1590474873
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs) rs1384386872
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp) rs119103288
NM_000127.3(EXT1):c.1056+1G>A rs886039354
NM_000127.3(EXT1):c.1165-1G>A rs1812078423
NM_000127.3(EXT1):c.1536+2T>G
NM_000127.3(EXT1):c.1575del (p.Lys526fs)
NM_000127.3(EXT1):c.15dup (p.Arg6fs) rs759834555
NM_000127.3(EXT1):c.1633-1G>T rs1823354043
NM_000127.3(EXT1):c.1884-2A>G
NM_000127.3(EXT1):c.1909dup (p.Tyr637fs)
NM_000127.3(EXT1):c.250C>T (p.Gln84Ter) rs1064793753
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter) rs1817893036
NM_000130.5(F5):c.4647dup (p.Tyr1550fs)
NM_000132.4(F8):c.2006C>T (p.Ser669Phe)
NM_000132.4(F8):c.2113+461_2113+473del rs781928603
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2785del (p.Tyr929fs)
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.893+5G>C rs2040352785
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000138.5(FBN1):c.-36_5del (p.Met1fs) rs2140787904
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1746C>G (p.Cys582Trp)
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1911_1915del (p.Cys637fs)
NM_000138.5(FBN1):c.2001_2002del (p.Gly668fs)
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2262T>G (p.Tyr754Ter)
NM_000138.5(FBN1):c.2369G>T (p.Cys790Phe) rs193922188
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr) rs1057523406
NM_000138.5(FBN1):c.2761T>A (p.Cys921Ser) rs1597567249
NM_000138.5(FBN1):c.2987G>A (p.Cys996Tyr) rs2141297233
NM_000138.5(FBN1):c.3897_3903del (p.Lys1300fs)
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4408del (p.Cys1470fs) rs2141275716
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4730G>A (p.Cys1577Tyr)
NM_000138.5(FBN1):c.5065+1G>C rs1296209846
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.5628C>A (p.Cys1876Ter)
NM_000138.5(FBN1):c.6649T>G (p.Cys2217Gly)
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6816T>G (p.Tyr2272Ter) rs2043017379
NM_000138.5(FBN1):c.6866G>A (p.Cys2289Tyr) rs1566894230
NM_000138.5(FBN1):c.6992G>A (p.Cys2331Tyr) rs397515842
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.8047_8051+1del
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000140.5(FECH):c.175C>T (p.Gln59Ter) rs2051253130
NM_000141.5(FGFR2):c.1019A>G (p.Tyr340Cys) rs1554928884
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro) rs121918495
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) rs121918487
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.833G>A (p.Cys278Tyr) rs776587763
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) rs121913101
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.292_308del (p.Ile98fs)
NM_000143.4(FH):c.634del (p.Gln212fs) rs2147919590
NM_000143.4(FH):c.893_904+7del rs1573881533
NM_000144.5(FXN):c.157del (p.Arg53fs) rs141935559
NM_000146.4(FTL):c.-160A>G rs398124633
NM_000146.4(FTL):c.-161C>T rs398124636
NM_000146.4(FTL):c.-168G>T rs398124635
NM_000146.4(FTL):c.172G>T (p.Glu58Ter) rs773435099
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000152.5(GAA):c.1192del (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1497G>A (p.Trp499Ter)
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter) rs374470794
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2479C>T (p.Gln827Ter) rs2039389744
NM_000152.5(GAA):c.2716G>A (p.Val906Ile) rs2039415511
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) rs121907940
NM_000153.4(GALC):c.1171_1175delinsA (p.His391fs) rs1885269233
NM_000153.4(GALC):c.943del (p.Glu315fs) rs1886008578
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000155.4(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.460T>C (p.Trp154Arg) rs111033702
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000156.6(GAMT):c.476T>C (p.Leu159Pro) rs2144636453
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA1):c.1193G>T (p.Arg398Leu)
NM_000157.4(GBA1):c.1240G>C (p.Val414Leu) rs398123528
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu) rs398123528
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser) rs121908301
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) rs398123530
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000159.4(GCDH):c.263G>A (p.Arg88His) rs1970568682
NM_000161.3(GCH1):c.220_223dup (p.Tyr75fs) rs2140127251
NM_000161.3(GCH1):c.454-2A>G rs2039866854
NM_000161.3(GCH1):c.505del (p.Ala169fs)
NM_000161.3(GCH1):c.626+1G>A rs1555358507
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000161.3(GCH1):c.646C>T (p.Arg216Ter) rs41298440
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu) rs193922264
NM_000162.5(GCK):c.307A>T (p.Thr103Ser) rs2096281726
NM_000162.5(GCK):c.617C>T (p.Thr206Met) rs1441649062
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) rs193922340
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.100A>G (p.Met34Val) rs1569215061
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter) rs1602349302
NM_000166.6(GJB1):c.532G>A (p.Asp178Asn) rs1555937223
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.556dup (p.Glu186fs) rs1602349655
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000168.6(GLI3):c.1462_1497+2dup rs1789003501
NM_000168.6(GLI3):c.1497+1G>A rs1399654830
NM_000168.6(GLI3):c.1622C>T (p.Thr541Met) rs1562667078
NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln) rs1554306094
NM_000168.6(GLI3):c.1937_1949dup (p.Pro652fs)
NM_000168.6(GLI3):c.45del (p.Val16fs)
NM_000169.3(GLA):c.1081G>A (p.Gly361Arg) rs28935494
NM_000169.3(GLA):c.560T>C (p.Met187Thr) rs869312342
NM_000169.3(GLA):c.707G>A (p.Trp236Ter) rs879254022
NM_000169.3(GLA):c.983G>T (p.Gly328Val) rs28935492
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.3(GLDC):c.862-1G>C rs749542623
NM_000171.4(GLRA1):c.942G>A (p.Trp314Ter) rs867618642
NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs) rs763978422
NM_000175.5(GPI):c.1414C>T (p.Arg472Cys) rs1364382189
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1189dup (p.Tyr397fs) rs1553412609
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.1519dup (p.Arg507fs) rs876658881
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.2551_2552insTTATA (p.Ser851fs)
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs) rs1572728112
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter) rs587781372
NM_000179.3(MSH6):c.2966del (p.Asn989fs)
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.3(MSH6):c.3132C>A (p.Tyr1044Ter) rs1669552731
NM_000179.3(MSH6):c.318G>A (p.Trp106Ter) rs1572708652
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3397dup (p.Thr1133fs) rs2104484510
NM_000179.3(MSH6):c.3416del (p.Gly1139fs) rs587781544
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.353_354insTC (p.Phe119fs)
NM_000179.3(MSH6):c.356dup (p.Ile120fs) rs1114167776
NM_000179.3(MSH6):c.3647-1G>A rs587779279
NM_000179.3(MSH6):c.3647-2A>C rs267608111
NM_000179.3(MSH6):c.3776_3777insAACA (p.Asn1259fs)
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs) rs760190301
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter) rs1553333707
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.3(MSH6):c.426G>A (p.Trp142Ter) rs63750342
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.3(MSH6):c.741dup (p.Arg248fs) rs267608041
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000186.4(CFH):c.3676C>T (p.Pro1226Ser)
NM_000187.4(HGD):c.175del (p.Ser59fs) rs397515517
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000193.4(SHH):c.525C>G (p.Tyr175Ter) rs1803360739
NM_000193.4(SHH):c.958G>T (p.Glu320Ter) rs1159911756
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.391_392insC (p.Val131fs)
NM_000202.8(IDS):c.181T>C (p.Ser61Pro) rs113993955
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000206.3(IL2RG):c.205_215del (p.Tyr69fs) rs2147750934
NM_000206.3(IL2RG):c.269+1G>A
NM_000206.3(IL2RG):c.758-1G>C rs886042051
NM_000206.3(IL2RG):c.924G>A (p.Ser308=) rs2092255386
NM_000206.3(IL2RG):c.943_962del (p.Lys315fs)
NM_000210.4(ITGA6):c.1708C>T (p.Gln570Ter) rs2149067379
NM_000211.5(ITGB2):c.120del (p.Gly42fs)
NM_000211.5(ITGB2):c.1264C>T (p.Gln422Ter) rs1568883795
NM_000213.5(ITGB4):c.1135C>T (p.Arg379Ter) rs777045339
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs) rs876660981
NM_000214.3(JAG1):c.2078G>A (p.Cys693Tyr) rs566563238
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.3245_3257del (p.Ile1082fs) rs2067258421
NM_000215.4(JAK3):c.1019C>A (p.Ser340Ter) rs2094238720
NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala) rs104894354
NM_000217.3(KCNA1):c.781G>A (p.Ala261Thr)
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) rs12720459
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs) rs397508082
NM_000218.3(KCNQ1):c.1225del (p.Ser409fs)
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His) rs199472814
NM_000218.3(KCNQ1):c.361_370del (p.Lys121fs) rs2133560315
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer) rs1848319796
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) rs397508127
NM_000218.3(KCNQ1):c.915G>A (p.Trp305Ter)
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) rs397508134
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp) rs59616921
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_000228.3(LAMB3):c.823-1G>T rs778372285
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000238.4(KCNH2):c.158G>A (p.Gly53Asp) rs199473491
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_000238.4(KCNH2):c.2200_2201insAGCC (p.Arg734fs) rs2116950615
NM_000238.4(KCNH2):c.236_243dup (p.Ile82fs)
NM_000238.4(KCNH2):c.2780G>A (p.Trp927Ter) rs794728399
NM_000238.4(KCNH2):c.2785del (p.Glu929fs) rs794728458
NM_000238.4(KCNH2):c.2903dup (p.Gly970fs)
NM_000238.4(KCNH2):c.2918del (p.Leu973fs) rs1800958758
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.4(KCNH2):c.2966-3C>G rs1800949012
NM_000238.4(KCNH2):c.3103_3120delinsGGGTCGGCGG (p.Arg1035fs)
NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs) rs794728469
NM_000238.4(KCNH2):c.41del (p.Phe14fs) rs2117072681
NM_000238.4(KCNH2):c.865_869dup (p.Met291fs)
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) rs104895121
NM_000249.4(MLH1):c.100G>T (p.Glu34Ter)
NM_000249.4(MLH1):c.1039-1G>A rs267607819
NM_000249.4(MLH1):c.1376C>A (p.Ser459Ter) rs2083454135
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1559-1G>T rs267607837
NM_000249.4(MLH1):c.1731+1G>A rs267607853
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.4(MLH1):c.1884_1888del (p.Leu628fs) rs63751639
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.4(MLH1):c.238T>G (p.Phe80Val) rs63749990
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.4(MLH1):c.546-2A>G rs267607759
NM_000249.4(MLH1):c.646_647del (p.Ile216fs)
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000251.3(MSH2):c.1119del (p.Arg373fs) rs63750516
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.1222dup (p.Tyr408fs) rs63751142
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1321dup (p.Thr441fs) rs63750807
NM_000251.3(MSH2):c.1405del (p.Leu469_Val470insTer) rs1060502027
NM_000251.3(MSH2):c.1661+5G>C rs267607972
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.1989del (p.Met663fs) rs1558518588
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.212-1G>A rs267607914
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del) rs587779165
NM_000251.3(MSH2):c.595T>C (p.Cys199Arg) rs63751110
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000251.3(MSH2):c.788_789del (p.Asn263fs) rs63751614
NM_000251.3(MSH2):c.942+1G>T rs587779193
NM_000251.3(MSH2):c.943-1G>C rs12476364
NM_000252.3(MTM1):c.509_528dup (p.Gly177fs)
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000254.3(MTR):c.1941dup (p.Arg648fs)
NM_000254.3(MTR):c.920dup (p.His307fs)
NM_000255.4(MMUT):c.1230_1235del (p.Ile411_Ile412del) rs1767553642
NM_000255.4(MMUT):c.1444+1del rs1189219556
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr) rs1302409621
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) rs879253851
NM_000256.3(MYBPC3):c.1235_1236delTT rs397515894
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs) rs730880649
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2577del (p.Ala860fs)
NM_000256.3(MYBPC3):c.2639_2642del (p.Asp880fs)
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs) rs1064793202
NM_000256.3(MYBPC3):c.519del (p.Phe174fs) rs1595849742
NM_000256.3(MYBPC3):c.806C>A (p.Ser269Ter)
NM_000257.3(MYH7):c.4522_4524del rs397516220
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.1277C>T (p.Ala426Val) rs2138675399
NM_000257.4(MYH7):c.1283C>A (p.Ala428Asp) rs727503266
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys) rs397516171
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) rs28933098
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000260.4(MYO7A):c.1820C>A (p.Ser607Ter) rs782598897
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.3851_3878dup (p.Lys1294fs)
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.655_660del (p.Ile219_His220del) rs1952522892
NM_000261.2(MYOC):c.1099G>A (p.Gly367Arg) rs74315334
NM_000261.2(MYOC):c.565C>T (p.Arg189Ter)
NM_000263.4(NAGLU):c.1552del (p.Val518fs) rs2092928057
NM_000264.5(PTCH1):c.1028_1029dup (p.Gly344fs)
NM_000264.5(PTCH1):c.1031del (p.Gly344fs) rs2118389988
NM_000264.5(PTCH1):c.1252_1253del (p.Lys418fs) rs2118337307
NM_000264.5(PTCH1):c.1435_1436del (p.Leu479fs)
NM_000264.5(PTCH1):c.2332dup (p.Thr778fs) rs2117970002
NM_000264.5(PTCH1):c.260dup (p.Leu87fs) rs2118879524
NM_000264.5(PTCH1):c.2703+2T>A rs2136686524
NM_000264.5(PTCH1):c.290dup (p.Asn97fs) rs1554708751
NM_000264.5(PTCH1):c.353del (p.Ala118fs)
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs) rs4029402
NM_000266.4(NDP):c.310A>C (p.Lys104Gln)
NM_000268.4(NF2):c.1543A>T (p.Lys515Ter)
NM_000268.4(NF2):c.41_42del (p.Leu14fs) rs1418675250
NM_000270.4(PNP):c.244C>T (p.Gln82Ter) rs867750505
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter) rs751249367
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter) rs144973225
NM_000273.3(GPR143):c.659-1G>A
NM_000275.3(OCA2):c.163del (p.Ala55fs) rs1254334474
NM_000275.3(OCA2):c.2336del (p.Gly779fs) rs1261095563
NM_000275.3(OCA2):c.2406T>G (p.Tyr802Ter) rs2035478131
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000276.4(OCRL):c.2341+1G>A rs1602818783
NM_000276.4(OCRL):c.2357_2358del (p.Ser786fs) rs1936551332
NM_000276.4(OCRL):c.497C>A (p.Ser166Ter) rs1936098220
NM_000277.3(PAH):c.1065+1G>T rs62516147
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?) rs199475641
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.3(PAH):c.58C>T (p.Gln20Ter) rs199475585
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.677_686del (p.Gln226fs) rs1875355050
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000277.3(PAH):c.733G>A (p.Val245Met) rs62508694
NM_000277.3(PAH):c.930_940del (p.Ser310_Leu311insTer) rs62651568
NM_000278.5(PAX2):c.69del (p.Val26fs)
NM_000278.5(PAX2):c.71G>A (p.Gly24Glu)
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.954C>A (p.Tyr318Ter) rs78122364
NM_000283.4(PDE6B):c.1832+1G>T rs370758397
NM_000283.4(PDE6B):c.1927_1967del (p.Asn643fs) rs1296042817
NM_000283.4(PDE6B):c.863_864del (p.Asp288fs) rs1412122281
NM_000284.4(PDHA1):c.1080_1099del (p.Leu361fs) rs2063246442
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln) rs2063162114
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.643A>T (p.Lys215Ter)
NM_000284.4(PDHA1):c.721_724dup (p.Tyr242Ter) rs2063189611
NM_000284.4(PDHA1):c.831+2T>C rs2063192913
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153
NM_000287.4(PEX6):c.1027del (p.Arg343fs) rs1388178333
NM_000287.4(PEX6):c.1090C>T (p.Gln364Ter) rs1770166292
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000288.4(PEX7):c.339+2T>C rs1057517059
NM_000292.3(PHKA2):c.285+1del
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000293.3(PHKB):c.2196+2T>G rs1973430655
NM_000297.4(PKD2):c.1480G>T (p.Glu494Ter) rs1727790591
NM_000297.4(PKD2):c.2020-2del rs2110133920
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000298.6(PKLR):c.1079G>A (p.Cys360Tyr) rs773803500
NM_000298.6(PKLR):c.1484C>T (p.Ala495Val)
NM_000298.6(PKLR):c.799C>T (p.Gln267Ter) rs764143249
NM_000302.4(PLOD1):c.698_699insCCTCTGGCCTA (p.Asp234fs)
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys) rs558826439
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000304.4(PMP22):c.117G>A (p.Trp39Ter) rs797044846
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) rs74315403
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) rs28933385
NM_000312.4(PROC):c.1216A>G (p.Met406Val) rs1553425459
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.131G>A (p.Gly44Asp) rs1085308042
NM_000314.8(PTEN):c.155_156insCT (p.Val53fs) rs1859099759
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.19G>T (p.Glu7Ter) rs1554890335
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.45A>C (p.Arg15Ser) rs1064794096
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.492+2T>G rs1554898244
NM_000314.8(PTEN):c.493G>T (p.Gly165Ter) rs587782603
NM_000314.8(PTEN):c.494G>T (p.Gly165Val) rs786204863
NM_000314.8(PTEN):c.516del (p.Arg172fs) rs1860417110
NM_000314.8(PTEN):c.517C>G (p.Arg173Gly) rs121913293
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.8(PTEN):c.802-2A>G rs587782455
NM_000321.3(RB1):c.45_79del (p.Ala16fs) rs2138027212
NM_000321.3(RB1):c.607+1G>A rs587776789
NM_000322.5(PRPH2):c.205del (p.Val69fs) rs1761916286
NM_000322.5(PRPH2):c.371del (p.Gly124fs) rs61755778
NM_000322.5(PRPH2):c.411del (p.Gly137_Met138insTer)
NM_000322.5(PRPH2):c.441del (p.Gly148fs) rs61755784
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.582-1G>C rs1800118693
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) rs121918567
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) rs986748364
NM_000322.5(PRPH2):c.68del (p.Met23fs)
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter) rs1800111659
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000322.5(PRPH2):c.920del (p.Leu307fs) rs61748433
NM_000322.5(PRPH2):c.934del (p.Val312fs) rs1799986608
NM_000325.6(PITX2):c.813_814insT (p.Ala272fs) rs1728848951
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs) rs62636295
NM_000329.3(RPE65):c.886dup (p.Arg296fs) rs746127684
NM_000330.4(RS1):c.185-1G>C rs281865344
NM_000330.4(RS1):c.33_36del (p.Leu11fs) rs281865335
NM_000330.4(RS1):c.418G>A (p.Gly140Arg) rs61752156
NM_000330.4(RS1):c.421C>G (p.Arg141Gly) rs61752158
NM_000330.4(RS1):c.421C>T (p.Arg141Cys) rs61752158
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly) rs80338785
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile) rs80338955
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro) rs1598405334
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met) rs121908548
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000335.5(SCN5A):c.2587A>T (p.Lys863Ter)
NM_000335.5(SCN5A):c.3555_3564del (p.Pro1186fs)
NM_000335.5(SCN5A):c.3964del (p.Val1322fs)
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser) rs199473298
NM_000335.5(SCN5A):c.611+1G>A rs794728843
NM_000335.5(SCN5A):c.692_693del (p.Ser231fs)
NM_000336.3(SCNN1B):c.831G>A (p.Trp277Ter)
NM_000338.3(SLC12A1):c.2242del (p.Tyr748fs) rs758961147
NM_000342.4(SLC4A1):c.1221del (p.Ala408fs)
NM_000342.4(SLC4A1):c.168+1G>A
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1890+1G>A rs1567830555
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His) rs866727908
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000346.4(SOX9):c.788del (p.Gly263fs) rs1274036689
NM_000349.3(STAR):c.201_202del (p.Tyr68fs) rs1563268652
NM_000350.3(ABCA4):c.108del (p.Leu37fs) rs62642569
NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter) rs1557787756
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) rs1064793006
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn) rs61749418
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) rs865990202
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) rs61749422
NM_000350.3(ABCA4):c.2040del (p.Leu680fs) rs1661097693
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter) rs1660843703
NM_000350.3(ABCA4):c.2829del (p.Pro944fs) rs1660702616
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.3050+1G>A rs1660619132
NM_000350.3(ABCA4):c.3050+1G>C
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs) rs1570373408
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp) rs61752416
NM_000350.3(ABCA4):c.3289A>T (p.Arg1097Ter) rs886044731
NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter) rs61752425
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter) rs746541266
NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu) rs552517556
NM_000350.3(ABCA4):c.4128+1G>A rs2101036750
NM_000350.3(ABCA4):c.4246TTC[1] (p.Phe1417del) rs1467000353
NM_000350.3(ABCA4):c.4383G>A (p.Trp1461Ter) rs1347261858
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr) rs61750147
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter) rs62645957
NM_000350.3(ABCA4):c.4786dup (p.Arg1596fs) rs1659902823
NM_000350.3(ABCA4):c.4848+2T>A rs1659900155
NM_000350.3(ABCA4):c.4848+2T>C rs1659900155
NM_000350.3(ABCA4):c.5018+2T>A rs61750562
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5248C>T (p.Gln1750Ter) rs61753026
NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro) rs1571252997
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.571-1G>T rs61748533
NM_000350.3(ABCA4):c.5714+1G>T rs1232476760
NM_000350.3(ABCA4):c.5758del (p.Asp1920fs)
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile) rs61753037
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.67-1G>C rs778908435
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.967del (p.Leu323fs) rs1661666701
NM_000352.6(ABCC8):c.1468G>T (p.Glu490Ter)
NM_000352.6(ABCC8):c.2117-2A>T rs1476853180
NM_000352.6(ABCC8):c.2368G>T (p.Glu790Ter) rs1317396512
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln) rs1564869850
NM_000355.4(TCN2):c.997dup (p.Thr333fs) rs2145548128
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) rs121909208
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln) rs121909209
NM_000358.3(TGFBI):c.1877A>C (p.His626Pro)
NM_000359.3(TGM1):c.131G>A (p.Trp44Ter) rs1566381457
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) rs727503499
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter) rs118203491
NM_000368.5(TSC1):c.111del (p.Gly38fs) rs1846929742
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.5(TSC1):c.1450dup (p.Arg484fs)
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs) rs118203550
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs) rs118203599
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter) rs118203646
NM_000368.5(TSC1):c.2268dup (p.Glu757fs)
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.5(TSC1):c.2771del (p.Leu924fs) rs1845139251
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter) rs118203450
NM_000368.5(TSC1):c.809C>A (p.Ser270Ter) rs878853968
NM_000368.5(TSC1):c.903dup (p.Asn302fs) rs1846003590
NM_000368.5(TSC1):c.913+1G>A rs118203470
NM_000370.3(TTPA):c.300C>A (p.Tyr100Ter) rs2129762689
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000371.4(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.325G>C (p.Glu109Gln) rs121918082
NM_000372.5(TYR):c.1037-10_1041del rs2135281738
NM_000372.5(TYR):c.301_309delinsA (p.Gly101fs)
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.755T>G (p.Met252Arg) rs1943262190
NM_000372.5(TYR):c.757G>A (p.Gly253Arg) rs61754369
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1339-2A>G rs2147267240
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.295C>T (p.Gln99Ter) rs2147263661
NM_000377.3(WAS):c.320A>G (p.Tyr107Cys) rs2062416328
NM_000377.3(WAS):c.37C>T (p.Arg13Ter) rs193922415
NM_000377.3(WAS):c.403C>T (p.Gln135Ter)
NM_000377.3(WAS):c.631C>T (p.Arg211Ter) rs1602178165
NM_000377.3(WAS):c.741dup (p.Ser248fs)
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000381.4(MID1):c.1270C>T (p.Gln424Ter) rs1929590555
NM_000382.3(ALDH3A2):c.901_909delinsCCTTTGGG (p.Ala301fs) rs2084962182
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10586C>A (p.Ser3529Ter)
NM_000384.3(APOB):c.11124del (p.Phe3708fs) rs1282116285
NM_000384.3(APOB):c.2786dup (p.Arg931fs) rs1553385404
NM_000384.3(APOB):c.4832del (p.Phe1611fs)
NM_000384.3(APOB):c.5564dup (p.Val1856fs)
NM_000384.3(APOB):c.6679del (p.His2227fs) rs2103356720
NM_000384.3(APOB):c.7699C>T (p.Gln2567Ter) rs2103355244
NM_000384.3(APOB):c.7961del (p.Asn2654fs)
NM_000388.4(CASR):c.349C>T (p.Gln117Ter) rs2107627659
NM_000388.4(CASR):c.518T>C (p.Leu173Pro) rs2107631736
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_000390.4(CHM):c.1359del (p.Arg454fs) rs1926208868
NM_000390.4(CHM):c.1413+1G>T rs1926202120
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) rs132630264
NM_000390.4(CHM):c.1531_1532insTCTTCTAAACAGCAT (p.Thr511delinsIlePheTer) rs1924595442
NM_000390.4(CHM):c.1644G>A (p.Trp548Ter) rs1924195176
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) rs1924193863
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) rs1603288832
NM_000390.4(CHM):c.315-4587T>A rs1930707138
NM_000390.4(CHM):c.315_318del (p.Ser105Argfs) rs886041176
NM_000390.4(CHM):c.469del (p.Gln157fs) rs2147676070
NM_000390.4(CHM):c.49+5G>A rs1057521475
NM_000390.4(CHM):c.50-1G>C rs1933881504
NM_000390.4(CHM):c.525_526del (p.Glu177fs) rs886041177
NM_000390.4(CHM):c.645del (p.Thr216fs) rs1930416163
NM_000390.4(CHM):c.660dup (p.Ile221fs) rs1603264410
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) rs527236048
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000390.4(CHM):c.924T>G (p.Tyr308Ter) rs758669355
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1288_1289dup (p.Leu430_Ser431insTer) rs2134591764
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs) rs759664259
NM_000391.4(TPP1):c.565C>T (p.Gln189Ter)
NM_000392.5(ABCC2):c.3216dup (p.Asp1073Ter) rs771652807
NM_000394.4(CRYAA):c.346C>A (p.Arg116Ser) rs74315439
NM_000394.4(CRYAA):c.346C>T (p.Arg116Cys) rs74315439
NM_000397.4(CYBB):c.1152-2A>G rs2146817932
NM_000397.4(CYBB):c.1244C>A (p.Pro415His) rs137854585
NM_000397.4(CYBB):c.252G>A (p.Ala84=) rs387906485
NM_000397.4(CYBB):c.418del (p.Ala140fs)
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000400.4(ERCC2):c.1544-1G>T
NM_000400.4(ERCC2):c.1666-8_1740dup
NM_000400.4(ERCC2):c.2009del (p.Gly670fs) rs1971844830
NM_000400.4(ERCC2):c.494_495insT (p.Arg166fs)
NM_000400.4(ERCC2):c.5+2T>A rs1599753508
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) rs72555367
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000416.3(IFNGR1):c.218G>A (p.Trp73Ter)
NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter) rs1236922680
NM_000422.3(KRT17):c.281G>A (p.Arg94His) rs28928897
NM_000426.4(LAMA2):c.112+1G>C rs398123367
NM_000426.4(LAMA2):c.1762del (p.Ala588fs) rs786205654
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.2918_2936del (p.Gly973fs)
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.4(LAMA2):c.4510C>T (p.Gln1504Ter)
NM_000426.4(LAMA2):c.5195dup (p.Asn1732fs) rs747567057
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter) rs746201268
NM_000426.4(LAMA2):c.5866-1G>A rs1064797040
NM_000426.4(LAMA2):c.8245-1G>C rs2114888603
NM_000426.4(LAMA2):c.8689C>T (p.Arg2897Ter) rs750328754
NM_000427.3(LORICRIN):c.684dup (p.Ser229fs) rs886041212
NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter) rs121918355
NM_000429.3(MAT1A):c.1132G>A (p.Gly378Ser) rs1170028069
NM_000429.3(MAT1A):c.791G>A (p.Arg264His) rs72558181
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs) rs113994200
NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter) rs886041341
NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter) rs587784267
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter) rs121434483
NM_000430.4(PAFAH1B1):c.900+1G>A rs587784290
NM_000430.4(PAFAH1B1):c.954_955del (p.Lys318fs) rs2151669999
NM_000431.4(MVK):c.404C>T (p.Ser135Leu) rs104895297
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000433.4(NCF2):c.196C>T (p.Arg66Ter) rs750782115
NM_000434.4(NEU1):c.300del (p.Ser101fs)
NM_000434.4(NEU1):c.625del (p.Glu209fs) rs1581820081
NM_000434.4(NEU1):c.725_727del (p.Tyr242_Gly243delinsTer) rs2151544647
NM_000435.3(NOTCH3):c.1532G>A (p.Cys511Tyr) rs2046897213
NM_000435.3(NOTCH3):c.1582G>T (p.Gly528Cys)
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr) rs2046888772
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) rs1555729604
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.484T>C (p.Cys162Arg) rs2145441998
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.520T>A (p.Cys174Ser) rs1599394806
NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg) rs1599394806
NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr) rs1555729486
NM_000435.3(NOTCH3):c.581G>T (p.Cys194Phe) rs2145441541
NM_000435.3(NOTCH3):c.932G>A (p.Cys311Tyr)
NM_000435.3(NOTCH3):c.967T>A (p.Cys323Ser) rs2145439777
NM_000440.3(PDE6A):c.1926+1G>A rs794727139
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.304C>T (p.Arg102Cys) rs141252097
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) rs142656144
NM_000441.2(SLC26A4):c.890del (p.Pro297fs) rs786204600
NM_000443.4(ABCB4):c.2169del (p.Leu724fs)
NM_000443.4(ABCB4):c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC (p.Val863_Val864delinsIleSerValLysHisTer)
NM_000443.4(ABCB4):c.2858C>A (p.Ala953Asp) rs2116406254
NM_000443.4(ABCB4):c.838C>T (p.Gln280Ter) rs755012183
NM_000444.6(PHEX):c.1482+1G>T rs1064793228
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1768+1G>T rs886041296
NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro) rs748792378
NM_000444.6(PHEX):c.2198G>A (p.Cys733Tyr) rs1057517981
NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg) rs1556206403
NM_000444.6(PHEX):c.329dup (p.Asn110fs)
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000448.3(RAG1):c.1767C>G (p.Tyr589Ter) rs991089005
NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer) rs1850837839
NM_000451.4(SHOX):c.40C>T (p.Gln14Ter) rs2124154022
NM_000454.5(SOD1):c.131A>G (p.His44Arg) rs121912435
NM_000454.5(SOD1):c.146A>G (p.His49Arg) rs1568809172
NM_000454.5(SOD1):c.346C>G (p.Arg116Gly) rs1301635320
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala) rs1200906022
NM_000455.5(STK11):c.178dup (p.Tyr60fs)
NM_000455.5(STK11):c.863-2_863-1del rs2080787333
NM_000458.4(HNF1B):c.1042del (p.Ser348fs)
NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys)
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)
NM_000459.5(TEK):c.3314_3316delinsACC (p.Thr1105_Thr1106delinsAsnPro) rs2131267744
NM_000465.4(BARD1):c.1315-1G>A rs1694367021
NM_000465.4(BARD1):c.1872del (p.Leu625fs) rs876659572
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer) rs779427628
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.130-2A>G rs1585260993
NM_000466.3(PEX1):c.1A>C (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2226+2T>C rs1792005848
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup) rs1554441991
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.100_101del (p.Gln34fs)
NM_000478.6(ALPL):c.1195G>T (p.Ala399Ser) rs2148192290
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000481.4(AMT):c.130del (p.Ala44fs)
NM_000481.4(AMT):c.14dup (p.Ser6fs) rs773988915
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000484.4(APP):c.2080G>A (p.Asp694Asn) rs63749810
NM_000484.4(APP):c.2145_2146delinsTG (p.Ile716Val) rs2146237965
NM_000484.4(APP):c.2146A>G (p.Ile716Val) rs63750399
NM_000484.4(APP):c.2146A>T (p.Ile716Phe)
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000484.4(APP):c.2149G>T (p.Val717Phe) rs63750264
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu) rs74315478
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.583del (p.Trp195fs) rs398123416
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)
NM_000489.6(ATRX):c.3944-2A>G rs2070047352
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.6(ATRX):c.7201-3_7201-2del rs2062763812
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter) rs397508168
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter) rs397508183
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer) rs121908776
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly) rs397508288
NM_000492.4(CFTR):c.1766+1G>T rs121908748
NM_000492.4(CFTR):c.1941T>A (p.Cys647Ter)
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) rs121908789
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter) rs397508684
NM_000492.4(CFTR):c.50del (p.Phe17fs) rs397508714
NM_000494.4(COL17A1):c.1750C>T (p.Arg584Ter)
NM_000496.3(CRYBB2):c.562C>T (p.Arg188Cys) rs2146095454
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.1235_1284dup (p.Asp429fs)
NM_000512.5(GALNS):c.425A>G (p.His142Arg) rs1288895691
NM_000516.7(GNAS):c.343C>T (p.Pro115Ser) rs2146182909
NM_000516.7(GNAS):c.347_348dup (p.Val117fs)
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.531-2A>T rs2091270014
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548
NM_000518.5(HBB):c.-29G>A rs34704828
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.295G>A (p.Val99Met) rs33933298
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000520.6(HEXA):c.1048C>T (p.Gln350Ter)
NM_000520.6(HEXA):c.986+2T>C
NM_000521.4(HEXB):c.876del (p.His294fs) rs1749604779
NM_000523.4(HOXD13):c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC (p.Ala63_Ala71dup) rs775525473
NM_000526.5(KRT14):c.355A>G (p.Met119Val) rs61263401
NM_000526.5(KRT14):c.397G>A (p.Val133Met) rs61027685
NM_000526.5(KRT14):c.815T>C (p.Met272Thr) rs61371557
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter) rs879254865
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1659C>G (p.Tyr553Ter) rs564258872
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs) rs879255020
NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter) rs752935814
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2100C>G (p.Asp700Glu) rs759858813
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.5(LDLR):c.261G>A (p.Trp87Ter) rs199570811
NM_000527.5(LDLR):c.362G>C (p.Cys121Ser) rs193922571
NM_000527.5(LDLR):c.382del (p.Cys128fs)
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.552T>A (p.Cys184Ter)
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) rs1553259790
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) rs786204119
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.235-1G>T rs1571819375
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000530.8(MPZ):c.361G>A (p.Asp121Asn) rs1670263519
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) rs1571817146
NM_000531.6(OTC):c.350A>G (p.His117Arg) rs66539573
NM_000531.6(OTC):c.548A>G (p.Tyr183Cys) rs72556293
NM_000531.6(OTC):c.596A>G (p.Asn199Ser) rs72558406
NM_000531.6(OTC):c.626C>T (p.Ala209Val) rs72558417
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.944T>A (p.Val315Asp) rs67414444
NM_000531.6(OTC):c.995G>A (p.Trp332Ter) rs72558481
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000533.5(PLP1):c.354del (p.Gly120fs) rs2147764477
NM_000533.5(PLP1):c.684C>A (p.Cys228Ter) rs2147767061
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1730dup (p.Arg578fs) rs587779330
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.922_933delinsA (p.Glu308fs) rs1554299430
NM_000538.4(RFXAP):c.634C>T (p.Gln212Ter)
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) rs2084801470
NM_000539.3(RHO):c.137T>G (p.Leu46Arg) rs2084757073
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) rs104893772
NM_000539.3(RHO):c.392T>C (p.Leu131Pro) rs1553781140
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.501C>G (p.Cys167Trp) rs751280060
NM_000539.3(RHO):c.512C>A (p.Pro171Gln) rs2084776162
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.538C>G (p.Pro180Ala) rs1560046837
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.620T>G (p.Met207Arg) rs104893782
NM_000539.3(RHO):c.632A>G (p.His211Arg) rs28933993
NM_000539.3(RHO):c.644C>T (p.Pro215Leu) rs2084786704
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.3(RYR1):c.1202G>A (p.Arg401His) rs193922766
NM_000540.3(RYR1):c.12110del (p.Gly4037fs) rs1555795308
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter) rs143849895
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.1542G>A (p.Trp514Ter) rs1967312937
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.6933dup (p.Met2312fs) rs1969980104
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met) rs914804033
NM_000540.3(RYR1):c.9852G>A (p.Trp3284Ter)
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly) rs120074125
NM_000543.5(SMPD1):c.1380del (p.His461fs) rs1848061158
NM_000543.5(SMPD1):c.1445_1448del (p.Phe482fs) rs1848063769
NM_000543.5(SMPD1):c.1486+5G>A rs1446986999
NM_000543.5(SMPD1):c.581dup (p.Ala195fs) rs748165078
NM_000545.8(HNF1A):c.1381_1384del (p.Pro461fs)
NM_000545.8(HNF1A):c.1768+1G>A rs1877324101
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter) rs769086289
NM_000545.8(HNF1A):c.754C>T (p.Gln252Ter)
NM_000545.8(HNF1A):c.819A>T (p.Lys273Asn) rs1593058831
NM_000545.8(HNF1A):c.899_900delinsTCCCCTG (p.Pro300fs) rs2135842474
NM_000546.6(TP53):c.216dup (p.Val73fs) rs730882018
NM_000546.6(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_000546.6(TP53):c.323dup (p.Arg110fs) rs2151039468
NM_000546.6(TP53):c.375+1G>T rs1567555445
NM_000546.6(TP53):c.402T>A (p.Phe134Leu) rs1555526278
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.672+1G>C
NM_000546.6(TP53):c.695T>C (p.Ile232Thr) rs587781589
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.6(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000546.6(TP53):c.920-1G>A rs587781702
NM_000546.6(TP53):c.927del (p.Asn310fs) rs2073160651
NM_000548.5(TSC2):c.1220_1240del (p.Tyr407_Arg413del) rs137853998
NM_000548.5(TSC2):c.132dup (p.Leu45fs) rs2150973810
NM_000548.5(TSC2):c.1361+1G>A rs45517164
NM_000548.5(TSC2):c.1361+1G>T rs45517164
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1610_1617dup (p.Ser540fs) rs2087224465
NM_000548.5(TSC2):c.1758_1759del (p.Val586_Tyr587insTer) rs397515116
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter) rs45517213
NM_000548.5(TSC2):c.2157T>G (p.Tyr719Ter) rs902456479
NM_000548.5(TSC2):c.2639+1G>A rs45517252
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.3190_3285-15del
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs) rs137854076
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3592del (p.Leu1198fs)
NM_000548.5(TSC2):c.3610+1G>A rs45517299
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter) rs45517306
NM_000548.5(TSC2):c.3838C>T (p.Gln1280Ter)
NM_000548.5(TSC2):c.3950dup (p.Leu1317fs) rs2151512451
NM_000548.5(TSC2):c.4005+1G>T rs45517324
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.481+5G>T rs137854135
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) rs45455296
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4924_4936del (p.Gly1642fs) rs2151587004
NM_000548.5(TSC2):c.5003_5004del (p.Phe1668fs) rs2151611619
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter) rs45517388
NM_000548.5(TSC2):c.5075_5078del (p.Glu1692fs) rs137854037
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.759C>A (p.Cys253Ter) rs45517125
NM_000548.5(TSC2):c.775-2del rs2085953535
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977
NM_000550.3(TYRP1):c.385+1G>C
NM_000550.3(TYRP1):c.643C>G (p.His215Asp) rs1160525621
NM_000551.4(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.4(VHL):c.525C>A (p.Tyr175Ter) rs5030835
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.3940del (p.Val1314fs) rs2136413513
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000553.6(WRN):c.171C>A (p.Tyr57Ter) rs373806031
NM_000553.6(WRN):c.1940del (p.Cys646_Ser647insTer)
NM_000574.5(CD55):c.822_823insAA (p.Glu275fs)
NM_000587.4(C7):c.633_643del (p.Ser212fs) rs770367814
NM_000642.3(AGL):c.1020del (p.Glu340fs) rs1651357012
NM_000642.3(AGL):c.1025_1026del (p.Arg342fs)
NM_000642.3(AGL):c.2714del (p.Asn905fs)
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.3544_3551dup (p.Thr1185fs) rs770701389
NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs) rs2100849229
NM_000642.3(AGL):c.4197del (p.Ala1400fs) rs786204595
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) rs104894721
NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg) rs1553190285
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met) rs1553244881
NM_000702.4(ATP1A2):c.1642C>T (p.Arg548Cys) rs1651731153
NM_000702.4(ATP1A2):c.1810C>T (p.Arg604Ter) rs1469902667
NM_000702.4(ATP1A2):c.1882G>A (p.Val628Met) rs1553245659
NM_000702.4(ATP1A2):c.2151C>A (p.Asn717Lys) rs140707454
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter) rs2122143379
NM_000709.4(BCKDHA):c.774C>A (p.Cys258Ter) rs2039375435
NM_000733.4(CD3E):c.173del (p.Leu58fs)
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000784.4(CYP27A1):c.1476+2T>C rs1165952837
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg) rs587778795
NM_000789.4(ACE):c.1499_1500del (p.Gln500fs)
NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del) rs900084108
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) rs1889966424
NM_000823.4(GHRHR):c.160+1G>T
NM_000834.5(GRIN2B):c.1177C>T (p.Arg393Ter) rs1555112396
NM_000834.5(GRIN2B):c.1368C>A (p.Cys456Ter) rs1555112177
NM_000834.5(GRIN2B):c.1396A>T (p.Lys466Ter) rs1555112166
NM_000834.5(GRIN2B):c.2010delinsAA (p.Phe671fs)
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys) rs387906636
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.2410G>T (p.Glu804Ter)
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.411+1G>T rs1057519611
NM_000875.5(IGF1R):c.2257C>T (p.Arg753Ter) rs1173681603
NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs) rs1727004803
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.516dup (p.Ile173fs)
NM_000969.5(RPL5):c.527+1_527+2delinsTG
NM_000969.5(RPL5):c.535C>T (p.Arg179Ter) rs1057520746
NM_000969.5(RPL5):c.657C>A (p.Tyr219Ter) rs1481353859
NM_000969.5(RPL5):c.74-1G>A rs1553284997
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_001001331.4(ATP2B2):c.2515del (p.Ile839fs)
NM_001001548.3(CD36):c.1047_1051dup (p.Pro351fs)
NM_001001548.3(CD36):c.660_664del (p.Asn220fs) rs768699378
NM_001002295.2(GATA3):c.647_681dup (p.Glu228fs)
NM_001002295.2(GATA3):c.701dup (p.Ser237fs) rs1564399278
NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs) rs1575155995
NM_001003694.2(BRPF1):c.1363C>T (p.Arg455Ter) rs1057519510
NM_001003694.2(BRPF1):c.1755_1758del (p.Lys585fs) rs2125504232
NM_001003694.2(BRPF1):c.2953C>T (p.Gln985Ter) rs2125513364
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs) rs1555142963
NM_001005242.3(PKP2):c.1A>C (p.Met1Leu) rs794729107
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2168-11_2169del
NM_001005242.3(PKP2):c.218dup (p.Asn74fs) rs1257456477
NM_001005242.3(PKP2):c.2247del (p.Ser750fs) rs2137708500
NM_001005242.3(PKP2):c.2357+1G>T rs111517471
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_001005242.3(PKP2):c.973_976dup (p.Ala326fs)
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
NM_001005273.3(CHD3):c.5053C>T (p.Arg1685Ter) rs1971195837
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005373.4(LRSAM1):c.2046+1G>T rs1588143215
NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
NM_001006658.3(CR2):c.1225+1G>C rs398122864
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001008212.2(OPTN):c.1320del (p.Lys440fs) rs1200521614
NM_001008212.2(OPTN):c.313G>T (p.Glu105Ter)
NM_001008537.3(NEXMIF):c.1118G>A (p.Trp373Ter) rs2080114608
NM_001008537.3(NEXMIF):c.1307C>A (p.Ser436Ter) rs2080113609
NM_001008537.3(NEXMIF):c.1433_1435delinsT (p.Tyr478fs)
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1569G>A (p.Trp523Ter) rs2080112579
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.2137G>T (p.Glu713Ter) rs2080109121
NM_001008537.3(NEXMIF):c.3142G>T (p.Glu1048Ter) rs2080102842
NM_001008537.3(NEXMIF):c.3194_3201del (p.His1065fs)
NM_001008537.3(NEXMIF):c.3584dup (p.Asn1195fs) rs1602211044
NM_001008537.3(NEXMIF):c.3709dup (p.Met1237fs) rs2147439257
NM_001008537.3(NEXMIF):c.568_569dup (p.Asn192fs) rs2080117225
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter) rs758719615
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) rs878854425
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.111C>A (p.Cys37Ter) rs2092941027
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11263C>T (p.Gln3755Ter) rs2091642103
NM_001009944.3(PKD1):c.11343C>G (p.Tyr3781Ter) rs2091619053
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.11932_11939delinsACG (p.Asp3978fs)
NM_001009944.3(PKD1):c.11984dup (p.Phe3996fs) rs2091483332
NM_001009944.3(PKD1):c.12403dup (p.Arg4135fs) rs2091435565
NM_001009944.3(PKD1):c.12633del (p.Glu4211fs) rs2091400232
NM_001009944.3(PKD1):c.1297C>T (p.Gln433Ter)
NM_001009944.3(PKD1):c.1353dup (p.Val452fs) rs2151822325
NM_001009944.3(PKD1):c.1810C>T (p.Gln604Ter) rs2092629130
NM_001009944.3(PKD1):c.215+2_215+3del rs2092939625
NM_001009944.3(PKD1):c.2853+1G>A rs2151812559
NM_001009944.3(PKD1):c.2854-2A>G rs1555457488
NM_001009944.3(PKD1):c.3058C>T (p.Gln1020Ter) rs753261451
NM_001009944.3(PKD1):c.3184C>T (p.Gln1062Ter) rs1231492796
NM_001009944.3(PKD1):c.3543T>A (p.Tyr1181Ter) rs1057516206
NM_001009944.3(PKD1):c.3561C>G (p.Tyr1187Ter) rs2151800871
NM_001009944.3(PKD1):c.3728G>A (p.Trp1243Ter) rs2092501974
NM_001009944.3(PKD1):c.4135G>T (p.Glu1379Ter)
NM_001009944.3(PKD1):c.4846G>T (p.Glu1616Ter) rs566014072
NM_001009944.3(PKD1):c.5482C>T (p.Gln1828Ter)
NM_001009944.3(PKD1):c.5884C>T (p.Gln1962Ter) rs1337022607
NM_001009944.3(PKD1):c.5887del (p.Val1963fs) rs2092440563
NM_001009944.3(PKD1):c.6084C>A (p.Tyr2028Ter) rs757173009
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter) rs2092423837
NM_001009944.3(PKD1):c.6491C>G (p.Ser2164Ter)
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.6953del (p.Arg2318fs)
NM_001009944.3(PKD1):c.706del (p.Gln236fs)
NM_001009944.3(PKD1):c.7237_7238del (p.Lys2413fs)
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7345dup (p.Thr2449fs) rs2151774462
NM_001009944.3(PKD1):c.7421dup (p.Ser2475fs)
NM_001009944.3(PKD1):c.744C>A (p.Cys248Ter) rs762278346
NM_001009944.3(PKD1):c.7704-2A>G
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) rs764840802
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.7989del (p.Ile2664fs) rs2151766664
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.8333dup (p.Glu2779fs) rs1567178000
NM_001009944.3(PKD1):c.9925dup (p.Thr3309fs) rs2151738483
NM_001010892.3(RSPH4A):c.347_348del (p.Val116fs)
NM_001011658.4(TRAPPC2):c.191_192del (p.Val64fs) rs587776749
NM_001011658.4(TRAPPC2):c.239-1_239insTATTTCATA rs2046281324
NM_001011658.4(TRAPPC2):c.241_242del (p.Met81fs) rs1602708047
NM_001011658.4(TRAPPC2):c.93+5G>A rs587776752
NM_001012614.2(CTBP1):c.991C>T (p.Arg331Trp) rs869320802
NM_001013838.3(CARMIL2):c.887_897delinsTGTTGTCCTG (p.Ser296fs) rs2142916354
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter) rs1556019107
NM_001017420.3(ESCO2):c.1674-1G>T rs1805491311
NM_001017995.3(SH3PXD2B):c.591_592dup (p.Gln198fs)
NM_001018115.3(FANCD2):c.2157dup (p.Ser720fs)
NM_001018115.3(FANCD2):c.922C>T (p.Gln308Ter)
NM_001020658.2(PUM1):c.2352C>G (p.Tyr784Ter) rs1640047087
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001022.4(RPS19):c.131_132del (p.Glu44fs) rs2074027448
NM_001022.4(RPS19):c.372dup (p.Pro125fs) rs2074126900
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001023570.4(IQCB1):c.983dup (p.Arg329fs) rs1949141890
NM_001024630.4(RUNX2):c.1075_1076del (p.Lys359fs) rs2150452051
NM_001024630.4(RUNX2):c.1085C>T (p.Ala362Val) rs1802363925
NM_001024630.4(RUNX2):c.278T>A (p.Leu93Ter) rs1798255831
NM_001024630.4(RUNX2):c.329del (p.Pro110fs) rs1798259380
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp) rs104893992
NM_001024630.4(RUNX2):c.860-1G>T rs2150421181
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001025603.2(RFX5):c.757+1G>A
NM_001029.5(RPS26):c.1A>T (p.Met1Leu) rs143951267
NM_001029883.3(PCARE):c.1541del (p.Pro514fs) rs1667513233
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029896.2(WDR45):c.130+1del rs2147817629
NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys) rs2065045729
NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter) rs886041382
NM_001029896.2(WDR45):c.227del (p.Glu76fs) rs2147817375
NM_001029896.2(WDR45):c.235+1G>A rs2065045269
NM_001029896.2(WDR45):c.244del (p.Trp82fs) rs2065040342
NM_001029896.2(WDR45):c.2T>A (p.Met1Lys) rs1569523565
NM_001029896.2(WDR45):c.2T>C (p.Met1Thr) rs1569523565
NM_001029896.2(WDR45):c.340_341+2del rs2147816494
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001029896.2(WDR45):c.52C>T (p.Gln18Ter) rs1569523562
NM_001029896.2(WDR45):c.659_660del (p.Leu219_Phe220insTer) rs2065032149
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter) rs387907329
NM_001029896.2(WDR45):c.770dup (p.Asp257fs) rs2065031075
NM_001029896.2(WDR45):c.827+1G>A rs1557083958
NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter) rs2065029414
NM_001029896.2(WDR45):c.879_880del (p.Gln294fs)
NM_001029998.6(SLC10A7):c.221T>C (p.Leu74Pro) rs1560980659
NM_001031726.4(C19orf12):c.164_166delGGG rs398122409
NM_001032221.6(STXBP1):c.1017del (p.Glu340fs) rs1841566082
NM_001032221.6(STXBP1):c.1029+1G>A rs727504173
NM_001032221.6(STXBP1):c.1074C>A (p.Tyr358Ter) rs1841613716
NM_001032221.6(STXBP1):c.1092del (p.Lys364fs) rs1841615616
NM_001032221.6(STXBP1):c.1124del (p.Gly375fs)
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1249+1G>C rs1057519189
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_001032221.6(STXBP1):c.1461+5G>A rs1841870815
NM_001032221.6(STXBP1):c.1606del (p.Arg536fs) rs1842042825
NM_001032221.6(STXBP1):c.1628G>A (p.Gly543Glu) rs1842044352
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val) rs121918317
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.170-1G>C rs112002192
NM_001032221.6(STXBP1):c.512_513del (p.Arg171fs) rs1841137524
NM_001032221.6(STXBP1):c.704_705insGG (p.Gly236fs) rs1841286087
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.906_912del (p.Glu302fs) rs1841465369
NM_001032382.2(PQBP1):c.424C>T (p.Arg142Ter) rs2147474434
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs) rs606231196
NM_001034852.3(SMOC1):c.661del (p.Ser221fs)
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs) rs1601943325
NM_001034853.2(RPGR):c.1220C>A (p.Ser407Ter) rs772201779
NM_001034853.2(RPGR):c.1246-2A>C rs2067410562
NM_001034853.2(RPGR):c.154+1G>A rs2067985165
NM_001034853.2(RPGR):c.1573-2A>G rs62635009
NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs) rs2067200470
NM_001034853.2(RPGR):c.1966dup (p.Asp656fs) rs2067198376
NM_001034853.2(RPGR):c.2059dup (p.Glu687fs) rs2067194747
NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter) rs2067193671
NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs) rs2067191541
NM_001034853.2(RPGR):c.2167del (p.Arg723fs) rs2067190976
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs) rs1555961832
NM_001034853.2(RPGR):c.2403_2406del (p.Glu802fs) rs2067183162
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs) rs2067179633
NM_001034853.2(RPGR):c.2480_2520dup (p.Glu841fs) rs2147197209
NM_001034853.2(RPGR):c.2527dup (p.Glu843fs) rs2067175855
NM_001034853.2(RPGR):c.2548G>T (p.Glu850Ter) rs1601922074
NM_001034853.2(RPGR):c.2571_2572del (p.Glu859fs) rs2067172385
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs) rs1601920423
NM_001034853.2(RPGR):c.2845del (p.Glu949fs) rs2067148119
NM_001034853.2(RPGR):c.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs) rs2067140574
NM_001034853.2(RPGR):c.2966del (p.Glu989fs) rs2067134850
NM_001034853.2(RPGR):c.3034del (p.Glu1012fs) rs2067128124
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter) rs2067127275
NM_001034853.2(RPGR):c.3077_3080del (p.Glu1026fs) rs2067124487
NM_001034853.2(RPGR):c.3081_3082del (p.Glu1028fs) rs1601918140
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001034853.2(RPGR):c.619+1G>C
NM_001034853.2(RPGR):c.935-1G>T rs2067498051
NM_001034853.2(RPGR):c.935-2A>G rs2067498092
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter) rs62640594
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001038.6(SCNN1A):c.875+2dup rs1948588956
NM_001038603.3(MARVELD2):c.1122_1123del (p.His374fs)
NM_001038603.3(MARVELD2):c.1331+2T>C rs772048719
NM_001039213.4(CEACAM16):c.24G>A (p.Trp8Ter)
NM_001039591.3(USP9X):c.2308G>T (p.Gly770Ter)
NM_001039591.3(USP9X):c.2637-2A>G
NM_001039591.3(USP9X):c.4118del (p.Gly1373fs) rs2062986710
NM_001039672.3(YIF1B):c.250del (p.Tyr84fs)
NM_001040108.2(MLH3):c.3716-1G>A
NM_001040142.2(SCN2A):c.1456_1457del (p.Ser486fs) rs1697695664
NM_001040142.2(SCN2A):c.2017-2A>G rs2105284299
NM_001040142.2(SCN2A):c.2562+2T>C rs1574636792
NM_001040142.2(SCN2A):c.4272G>A (p.Trp1424Ter)
NM_001040142.2(SCN2A):c.4642A>G (p.Met1548Val)
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.4948C>T (p.Leu1650Phe) rs1702008323
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro) rs1702008435
NM_001040142.2(SCN2A):c.605+1G>A
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040616.3(LINS1):c.982_985del (p.His328fs)
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_001042432.2(CLN3):c.1197+2T>A rs2046020472
NM_001042432.2(CLN3):c.460+1G>A rs1397086223
NM_001042432.2(CLN3):c.678-2A>G rs2046162412
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs) rs2046113301
NM_001042432.2(CLN3):c.954_962+18del rs386833741
NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter) rs267606624
NM_001042472.3(ABHD12):c.605C>T (p.Thr202Ile)
NM_001042492.3(NF1):c.1079dup (p.Ser361fs) rs2143878590
NM_001042492.3(NF1):c.1091del (p.Phe364fs) rs2066519253
NM_001042492.3(NF1):c.1182dup (p.Lys395Ter) rs1597682159
NM_001042492.3(NF1):c.1185+1G>A rs864622161
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1260+1604A>G rs1131691067
NM_001042492.3(NF1):c.1278G>A (p.Trp426Ter) rs1131691085
NM_001042492.3(NF1):c.1362_1364del (p.Cys454_Gly455delinsTer) rs2143915068
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1484_1485insA (p.Met496fs)
NM_001042492.3(NF1):c.1527+1159C>T rs878853868
NM_001042492.3(NF1):c.1584del (p.Leu529fs) rs876658693
NM_001042492.3(NF1):c.1642-3C>G rs1597706610
NM_001042492.3(NF1):c.1708_1721del (p.Phe570fs)
NM_001042492.3(NF1):c.170dup (p.Leu58fs)
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1797G>A (p.Trp599Ter) rs1567845906
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2002-2A>C rs1555613741
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.205-1G>C rs1555605362
NM_001042492.3(NF1):c.2219del (p.Glu740fs) rs2151426094
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2293del (p.Arg765fs) rs1597713360
NM_001042492.3(NF1):c.2324A>G (p.Glu775Gly)
NM_001042492.3(NF1):c.2325+1G>A rs1555613933
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2409+2T>G rs876660826
NM_001042492.3(NF1):c.2410-16A>G rs1567848704
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.2452del (p.Ser818fs) rs2067065066
NM_001042492.3(NF1):c.246_248delinsG (p.Gln83fs) rs2143646085
NM_001042492.3(NF1):c.249del (p.Gln83fs)
NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp) rs1555614229
NM_001042492.3(NF1):c.2892dup (p.Ile965fs) rs2067083389
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.3088_3089dup (p.Phe1031fs) rs2067092561
NM_001042492.3(NF1):c.3183_3187del (p.Lys1062fs)
NM_001042492.3(NF1):c.31C>T (p.Gln11Ter) rs876658658
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter) rs2067145586
NM_001042492.3(NF1):c.3755delinsAG (p.Leu1252Ter)
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3888T>G (p.Tyr1296Ter) rs2151438526
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.3974+1G>A rs1567852849
NM_001042492.3(NF1):c.3986C>G (p.Ser1329Ter) rs1060500319
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg) rs1567858306
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs) rs1135402852
NM_001042492.3(NF1):c.4109del (p.Gln1370fs) rs2151451681
NM_001042492.3(NF1):c.4338del (p.Gln1447fs) rs2067635690
NM_001042492.3(NF1):c.4372G>T (p.Glu1458Ter) rs1135402858
NM_001042492.3(NF1):c.4405A>T (p.Lys1469Ter) rs1567862353
NM_001042492.3(NF1):c.4430+1G>A rs773151680
NM_001042492.3(NF1):c.4536G>A (p.Trp1512Ter) rs878853897
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
NM_001042492.3(NF1):c.4760T>A (p.Leu1587Ter)
NM_001042492.3(NF1):c.4778del (p.Phe1593fs) rs2067765927
NM_001042492.3(NF1):c.4998del (p.Pro1667fs) rs1135402867
NM_001042492.3(NF1):c.5013C>G (p.Tyr1671Ter) rs1060500255
NM_001042492.3(NF1):c.5126_5127delinsG (p.Ile1709fs)
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5356del (p.Ser1786fs)
NM_001042492.3(NF1):c.539dup (p.Leu180fs)
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs) rs267606605
NM_001042492.3(NF1):c.5503_5530dup (p.Lys1844fs) rs2151541577
NM_001042492.3(NF1):c.5606T>G (p.Leu1869Ter) rs1597832482
NM_001042492.3(NF1):c.5680_5683del (p.Glu1894fs)
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5961_5962del (p.Gln1987fs)
NM_001042492.3(NF1):c.6006+2T>G rs1258498548
NM_001042492.3(NF1):c.61-1G>C
NM_001042492.3(NF1):c.6643-1_6643delinsTT rs2151557372
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter) rs2069717916
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807
NM_001042492.3(NF1):c.6922-2A>T rs864622509
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys) rs1567826188
NM_001042492.3(NF1):c.731-2A>G rs1555608924
NM_001042492.3(NF1):c.7453dup (p.Tyr2485fs) rs2070108811
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7602dup (p.Lys2535Ter) rs2070172428
NM_001042492.3(NF1):c.7614del (p.Gly2539fs) rs2070173038
NM_001042492.3(NF1):c.7747_7748del (p.Arg2583fs) rs1135402907
NM_001042492.3(NF1):c.7822dup (p.Glu2608fs)
NM_001042492.3(NF1):c.7883_7884dup (p.Tyr2629fs)
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.8139_8143del (p.Phe2714fs)
NM_001042492.3(NF1):c.978dup (p.Leu327fs) rs2066507887
NM_001044.5(SLC6A3):c.1389C>A (p.Cys463Ter)
NM_001048166.1(STIL):c.460C>T (p.Gln154Ter) rs1437830511
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met) rs104895219
NM_001065.4(TNFRSF1A):c.295T>C (p.Cys99Arg) rs104895228
NM_001065.4(TNFRSF1A):c.596T>A (p.Ile199Asn) rs104895247
NM_001070.5(TUBG1):c.776C>T (p.Ser259Leu) rs1555631383
NM_001077350.3(NPRL3):c.1213C>T (p.Gln405Ter) rs1898688345
NM_001077350.3(NPRL3):c.189-1G>A rs1900184374
NM_001077350.3(NPRL3):c.189-2A>T rs1567142752
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter) rs1199226176
NM_001077350.3(NPRL3):c.569del (p.Pro190fs)
NM_001077350.3(NPRL3):c.772_775del (p.Tyr258fs)
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_001079668.3(NKX2-1):c.250C>T (p.Gln84Ter)
NM_001079668.3(NKX2-1):c.267dup (p.His90fs) rs1594407150
NM_001079668.3(NKX2-1):c.391C>T (p.Gln131Ter) rs2139411590
NM_001079668.3(NKX2-1):c.432C>A (p.Tyr144Ter) rs775015070
NM_001079668.3(NKX2-1):c.463+1_463+10del
NM_001079668.3(NKX2-1):c.491del (p.Gly164fs) rs1881122726
NM_001079668.3(NKX2-1):c.501del (p.Met167fs) rs2139408171
NM_001079668.3(NKX2-1):c.650C>A (p.Ser217Ter)
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) rs121908572
NM_001079872.2(CUL4B):c.2176C>T (p.Gln726Ter)
NM_001080.3(ALDH5A1):c.1402+1G>T rs762290992
NM_001080.3(ALDH5A1):c.503_518del (p.Ser168fs) rs2127382430
NM_001080413.3(NOBOX):c.907C>T (p.Arg303Ter) rs193303102
NM_001080467.3(MYO5B):c.1455G>A (p.Trp485Ter)
NM_001080467.3(MYO5B):c.2641C>T (p.Gln881Ter) rs1598870169
NM_001080476.3(GRXCR1):c.568C>T (p.Arg190Ter)
NM_001080517.3(SETD5):c.1077+1G>T rs2041380175
NM_001080517.3(SETD5):c.1314_1315del (p.Glu438fs)
NM_001080517.3(SETD5):c.1899_1902del (p.Gln633fs) rs2042190198
NM_001080517.3(SETD5):c.1904A>G (p.Gln635Arg) rs2042190375
NM_001080517.3(SETD5):c.1959dup (p.Asn654Ter) rs2125280717
NM_001080517.3(SETD5):c.1967T>G (p.Leu656Ter) rs768750924
NM_001080517.3(SETD5):c.3001C>T (p.Arg1001Ter)
NM_001080517.3(SETD5):c.3087T>G (p.Tyr1029Ter)
NM_001080517.3(SETD5):c.3858_3859del (p.His1287fs) rs2045779618
NM_001080517.3(SETD5):c.875del (p.Leu292fs) rs2041310524
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001082538.3(TCTN1):c.221-2A>G rs367543065
NM_001082971.2(DDC):c.944+1G>A
NM_001083116.3(PRF1):c.150del (p.Thr51fs)
NM_001083614.2(EARS2):c.1413del (p.Lys471fs)
NM_001083961.2(WDR62):c.2864_2867del (p.Asp955fs) rs757827840
NM_001083961.2(WDR62):c.600_601del (p.Arg200fs)
NM_001083962.2(TCF4):c.1134del (p.Leu379fs)
NM_001083962.2(TCF4):c.1139del (p.His380fs) rs2057097206
NM_001083962.2(TCF4):c.1229_1232dup (p.Met411fs) rs2056308423
NM_001083962.2(TCF4):c.1243_1265dup (p.Gly423fs)
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs) rs398123561
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter) rs878853149
NM_001083962.2(TCF4):c.526del (p.Val176fs) rs2082085635
NM_001083962.2(TCF4):c.655+2T>G
NM_001083962.2(TCF4):c.665dup (p.His222fs) rs2061391242
NM_001083962.2(TCF4):c.922+1G>A
NM_001085458.2(CTNND1):c.1030C>T (p.Arg344Ter) rs2062049610
NM_001098.3(ACO2):c.250C>T (p.Arg84Ter) rs387907389
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100.4(ACTA1):c.109G>C (p.Val37Leu) rs1553255521
NM_001100.4(ACTA1):c.350A>G (p.Asn117Ser) rs121909520
NM_001100.4(ACTA1):c.493G>A (p.Val165Met) rs121909522
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.4(ACTA1):c.773G>A (p.Arg258His) rs1659953887
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) rs281875333
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.1354T>C (p.Ter452Arg) rs186882839
NM_001110354.2(ZP3):c.831+1G>C
NM_001110556.2(FLNA):c.2220_2223dup (p.Lys742fs)
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.2(FLNA):c.4750_4755+18del rs2067676994
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) rs387907371
NM_001110556.2(FLNA):c.6163C>T (p.Gln2055Ter) rs2148104977
NM_001110556.2(FLNA):c.6503-1G>A
NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs) rs786205178
NM_001110556.2(FLNA):c.705G>A (p.Trp235Ter) rs2067772652
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) rs61751449
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1092_1165del (p.Arg366fs)
NM_001110792.2(MECP2):c.1143_1237del (p.His381fs) rs2148659692
NM_001110792.2(MECP2):c.1168_1169insT (p.Ala390fs) rs2065925648
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs) rs267608585
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer) rs2065919863
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1244del (p.Pro415fs) rs781843758
NM_001110792.2(MECP2):c.1304_1317del (p.Ser435fs) rs2065907079
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) rs61748410
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.62+2_62+3del rs786205049
NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter) rs61749729
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.82C>T (p.Gln28Ter) rs61754424
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.1491dup (p.Glu498fs) rs1697846493
NM_001111.5(ADAR):c.1832del (p.Ser611fs) rs1697611007
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3348del (p.Arg1116fs)
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001111125.3(IQSEC2):c.1586_1587del (p.Pro529fs) rs2074381038
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter) rs1602284689
NM_001111125.3(IQSEC2):c.1880_1881del (p.Ser627fs) rs2074372905
NM_001111125.3(IQSEC2):c.2272C>T (p.Arg758Ter) rs886041433
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.828del (p.Ser277fs) rs1556865104
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg) rs1057518011
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.496dup (p.Gln166fs) rs1830620247
NM_001114753.3(ENG):c.523+1G>C rs113930974
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter) rs104894391
NM_001122681.2(SH3BP2):c.1244G>A (p.Arg415Gln) rs121909149
NM_001122681.2(SH3BP2):c.1252C>A (p.Pro418Thr) rs757336022
NM_001122764.3(PPOX):c.745dup (p.Val249fs) rs1571369150
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001122955.4(BSCL2):c.404G>C (p.Arg135Thr) rs2083508651
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) rs587777608
NM_001123385.2(BCOR):c.1024del (p.Arg342fs) rs1935664658
NM_001123385.2(BCOR):c.4500_4504del (p.Ala1500_Leu1501insTer)
NM_001126108.2(SLC12A3):c.1181G>A (p.Gly394Asp) rs777815715
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_001126108.2(SLC12A3):c.2866C>T (p.Gln956Ter) rs761692493
NM_001127178.3(PIGG):c.785del (p.Leu262fs) rs2108814954
NM_001127208.3(TET2):c.3589A>G (p.Lys1197Glu) rs1231721810
NM_001127208.3(TET2):c.685dup (p.Thr229fs)
NM_001127222.2(CACNA1A):c.1083-2A>G
NM_001127222.2(CACNA1A):c.1628_1643dup (p.Ser549fs)
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs) rs1555757523
NM_001127222.2(CACNA1A):c.2974G>T (p.Glu992Ter) rs2057722066
NM_001127222.2(CACNA1A):c.3457C>T (p.Gln1153Ter) rs201612257
NM_001127222.2(CACNA1A):c.3735dup (p.Glu1246Ter)
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter) rs1568473233
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4250+1G>C rs2056733058
NM_001127222.2(CACNA1A):c.4765del (p.Ala1589fs) rs2144726274
NM_001127222.2(CACNA1A):c.4783_4786delinsCA (p.Asn1595fs) rs2144726226
NM_001127222.2(CACNA1A):c.4828_4829del (p.Leu1610fs) rs2056443833
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.5859dup (p.Lys1954fs) rs2144536044
NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter) rs779221807
NM_001127392.3(MYRF):c.148_152del (p.Ile50fs)
NM_001127392.3(MYRF):c.1705G>T (p.Glu569Ter) rs2066412135
NM_001127392.3(MYRF):c.350del (p.Gly117fs) rs2135748375
NM_001127392.3(MYRF):c.871C>T (p.Arg291Ter)
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001127511.3(APC):c.-191T>C rs879253783
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.881C>T (p.Thr294Ile) rs796052495
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter) rs1745753552
NM_001127898.4(CLCN5):c.1773TGT[1] (p.Val593del)
NM_001128126.3(AP4S1):c.138+3_138+6del rs876661295
NM_001128126.3(AP4S1):c.146_167del (p.Phe49fs) rs2139056017
NM_001129.5(AEBP1):c.1455G>A (p.Trp485Ter)
NM_001130438.3(SPTAN1):c.1006C>T (p.Arg336Ter)
NM_001130438.3(SPTAN1):c.133C>T (p.Arg45Ter) rs1484319243
NM_001130438.3(SPTAN1):c.1642C>T (p.Arg548Ter)
NM_001130438.3(SPTAN1):c.315_316insA (p.Gly106fs)
NM_001130438.3(SPTAN1):c.5988G>A (p.Trp1996Ter)
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val) rs397509392
NM_001130987.2(DYSF):c.1258del (p.Ala420fs) rs779969348
NM_001130987.2(DYSF):c.179del (p.Leu60fs) rs2152682705
NM_001130987.2(DYSF):c.2426dup (p.Asp810fs) rs752479889
NM_001130987.2(DYSF):c.2760dup (p.Lys921fs) rs1559177278
NM_001130987.2(DYSF):c.2912dup (p.Phe972fs) rs2092323164
NM_001130987.2(DYSF):c.3203_3204del (p.Leu1068fs) rs1260279185
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs) rs758107024
NM_001130987.2(DYSF):c.4254del (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter) rs886042635
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) rs398123796
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg) rs1555496111
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_001134407.3(GRIN2A):c.1810_1813del (p.Ala604fs) rs2042450868
NM_001134407.3(GRIN2A):c.1817G>A (p.Trp606Ter) rs1555492799
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn) rs796052549
NM_001134407.3(GRIN2A):c.255del (p.His85fs)
NM_001134673.4(NFIA):c.763_766dup (p.Ser256fs)
NM_001134673.4(NFIA):c.889C>T (p.Gln297Ter)
NM_001134831.2(AHI1):c.1399C>T (p.Gln467Ter)
NM_001134831.2(AHI1):c.2492+1G>A rs187245292
NM_001139.3(ALOX12B):c.1153del (p.Val385fs) rs781409869
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) rs372354156
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter) rs1764939836
NM_001142800.2(EYS):c.3681dup (p.Met1228fs)
NM_001142800.2(EYS):c.3699del (p.Leu1234fs) rs1318739667
NM_001142800.2(EYS):c.3885del (p.Lys1295fs) rs1766427552
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4760G>A (p.Trp1587Ter) rs2149831862
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter) rs1766367970
NM_001142800.2(EYS):c.5644+2T>C rs2149830870
NM_001142800.2(EYS):c.5927+1G>T rs1444115520
NM_001142800.2(EYS):c.6079-2A>G
NM_001142800.2(EYS):c.6424+2T>C
NM_001142800.2(EYS):c.6544_6547del (p.Asn2182fs) rs1488052513
NM_001142800.2(EYS):c.67dup (p.Thr23fs) rs1766217655
NM_001142800.2(EYS):c.7055+1G>A rs1582079626
NM_001142800.2(EYS):c.7228_7228+1delinsTA rs1772614934
NM_001142800.2(EYS):c.730_733del (p.Cys244fs) rs1766174156
NM_001142800.2(EYS):c.8349dup (p.His2784fs)
NM_001142800.2(EYS):c.9036del (p.Leu3013fs) rs1225304963
NM_001142864.4(PIEZO1):c.6073_6074del (p.Lys2025fs)
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) rs587776992
NM_001142966.3(GREB1L):c.1735C>T (p.Arg579Ter) rs2034496911
NM_001145252.3(CFP):c.961T>G (p.Trp321Gly) rs1603083173
NM_001145358.2(SIN3A):c.1006C>T (p.Gln336Ter)
NM_001145358.2(SIN3A):c.2094-1G>T rs2073273656
NM_001145358.2(SIN3A):c.2689C>T (p.Arg897Ter) rs1064796919
NM_001145358.2(SIN3A):c.3025C>T (p.Gln1009Ter)
NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu) rs119103281
NM_001151.4(SLC25A4):c.340G>C (p.Ala114Pro) rs104893873
NM_001160148.2(DDHD1):c.456_463del (p.Ala153fs)
NM_001160372.4(TRAPPC9):c.142del (p.Asp48fs) rs2071449894
NM_001160372.4(TRAPPC9):c.3036_3040dup (p.Ala1014fs) rs2131116634
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001162501.2(TNRC6B):c.1989_1990del (p.Gly665fs) rs2146500556
NM_001162501.2(TNRC6B):c.4457G>A (p.Trp1486Ter)
NM_001163435.3(TBCK):c.1786_1787del (p.Val596fs) rs2149891925
NM_001163435.3(TBCK):c.2252del (p.Pro751fs) rs775034792
NM_001163435.3(TBCK):c.803_806del (p.Met268fs) rs771481304
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs) rs1943676862
NM_001164496.2(CFAP44):c.1170+1G>A rs1934205302
NM_001164508.2(NEB):c.11585_11586insG (p.Tyr3862Ter) rs2153991581
NM_001164508.2(NEB):c.13788+1G>A rs1553862061
NM_001164508.2(NEB):c.16704+1G>A rs1227806763
NM_001164508.2(NEB):c.18157-2A>G rs925947627
NM_001164508.2(NEB):c.22479G>C (p.Gln7493His) rs1474341248
NM_001164508.2(NEB):c.23129_23133dup (p.Tyr7712fs)
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter) rs777232352
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001164508.2(NEB):c.9505G>T (p.Glu3169Ter) rs370265998
NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter) rs762631020
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp) rs1475000361
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1303del (p.Glu435fs) rs2105861548
NM_001165963.4(SCN1A):c.137_165del (p.Glu46fs) rs1684678839
NM_001165963.4(SCN1A):c.1598del (p.Gly533fs) rs1697640966
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.1813_1822del (p.Arg605fs) rs1697464108
NM_001165963.4(SCN1A):c.1850_1851del (p.Arg617fs)
NM_001165963.4(SCN1A):c.2011del (p.Glu670_Val671insTer)
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2208_2209del (p.Cys737fs) rs1697164036
NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter) rs1553543340
NM_001165963.4(SCN1A):c.2510del (p.Gly837fs) rs2105817078
NM_001165963.4(SCN1A):c.252T>A (p.Tyr84Ter) rs2105982029
NM_001165963.4(SCN1A):c.2573T>C (p.Leu858Pro) rs1696865258
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter) rs397514459
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) rs121918775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.2846G>C (p.Cys949Ser) rs1696624989
NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg) rs121918754
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.3089_3091delinsAA (p.Ile1030fs) rs2105796316
NM_001165963.4(SCN1A):c.323dup (p.Tyr109fs) rs886041926
NM_001165963.4(SCN1A):c.3351del (p.Ile1117fs) rs1696322307
NM_001165963.4(SCN1A):c.3569dup (p.Cys1191fs) rs1692895957
NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg) rs121917930
NM_001165963.4(SCN1A):c.3627_3630del (p.Arg1209fs) rs1692878257
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3646_3659del (p.Val1215_Glu1216insTer) rs2105610084
NM_001165963.4(SCN1A):c.3656G>A (p.Trp1219Ter) rs1692870117
NM_001165963.4(SCN1A):c.3717dup (p.Ile1240fs) rs1692581621
NM_001165963.4(SCN1A):c.3724_3725dup (p.Asp1243fs) rs796053072
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.382_383+4del
NM_001165963.4(SCN1A):c.3957_3958del (p.Arg1319fs) rs1692162437
NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr) rs1553525325
NM_001165963.4(SCN1A):c.4205_4208del (p.Arg1402fs) rs1691048388
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.4348C>T (p.Gln1450Ter) rs121918806
NM_001165963.4(SCN1A):c.4386C>G (p.Tyr1462Ter) rs587781146
NM_001165963.4(SCN1A):c.442del (p.Ser148fs) rs1699143102
NM_001165963.4(SCN1A):c.449del (p.Pro150fs)
NM_001165963.4(SCN1A):c.4764T>A (p.Cys1588Ter) rs1553520980
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.487G>T (p.Gly163Ter) rs1553551498
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.4931G>A (p.Gly1644Asp) rs796053030
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759
NM_001165963.4(SCN1A):c.4943G>C (p.Arg1648Pro)
NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu) rs1689339718
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) rs794726754
NM_001165963.4(SCN1A):c.5115del (p.Phe1705fs)
NM_001165963.4(SCN1A):c.512del (p.Ile171fs) rs2105902403
NM_001165963.4(SCN1A):c.5141T>G (p.Met1714Arg) rs121917949
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter) rs77216276
NM_001165963.4(SCN1A):c.5741_5742del (p.Gln1914fs) rs1689146216
NM_001165963.4(SCN1A):c.594del (p.Thr199fs) rs1698940903
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.626_694+31del
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.782_788del (p.Val260_Phe261insTer) rs1698602478
NM_001165963.4(SCN1A):c.842C>T (p.Pro281Leu) rs796052964
NM_001165963.4(SCN1A):c.919G>T (p.Glu307Ter) rs1275890918
NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His) rs1553549461
NM_001165963.4(SCN1A):c.964+1G>C rs1574263047
NM_001166114.2(PNPLA6):c.1430C>A (p.Ser477Ter)
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln) rs786201037
NM_001166114.2(PNPLA6):c.3882dup (p.Thr1295fs) rs754195561
NM_001166412.2(SMOC2):c.84+1G>T rs786200927
NM_001167.4(XIAP):c.345C>G (p.Tyr115Ter) rs761159697
NM_001167.4(XIAP):c.492del (p.Ala165fs) rs2053349444
NM_001170629.2(CHD8):c.1744C>T (p.Arg582Ter) rs863224857
NM_001170629.2(CHD8):c.2795C>G (p.Ser932Ter) rs1888277745
NM_001170629.2(CHD8):c.3002C>G (p.Ser1001Ter) rs1888229658
NM_001170629.2(CHD8):c.3733C>T (p.Arg1245Ter) rs886041884
NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter) rs1085307794
NM_001170629.2(CHD8):c.5365del (p.Ile1789fs)
NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter) rs55884219
NM_001170629.2(CHD8):c.5607del (p.Asp1870fs)
NM_001171.6(ABCC6):c.1339-2A>G rs2047911840
NM_001171.6(ABCC6):c.1505A>G (p.Lys502Arg) rs72653771
NM_001171.6(ABCC6):c.3634-1G>T rs2152218824
NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs) rs1553544133
NM_001172509.2(SATB2):c.1784del (p.Pro595fs) rs1692194381
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001174089.2(SLC4A11):c.1154_1161del (p.Thr385fs)
NM_001174096.2(ZEB1):c.1812del (p.Asn604fs)
NM_001174096.2(ZEB1):c.976C>T (p.Arg326Ter) rs1057518956
NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter) rs1588257904
NM_001174147.2(LMX1B):c.235G>T (p.Glu79Ter) rs745711468
NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln) rs121909491
NM_001174147.2(LMX1B):c.741+1G>C
NM_001177316.2(SLC34A3):c.1402C>T (p.Arg468Trp) rs121918238
NM_001182.5(ALDH7A1):c.1318-1G>C rs1258470290
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs) rs1296037862
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001182.5(ALDH7A1):c.645C>A (p.Cys215Ter) rs1750999210
NM_001182.5(ALDH7A1):c.982C>T (p.Gln328Ter) rs1750309299
NM_001184.4(ATR):c.2669T>G (p.Leu890Ter)
NM_001184.4(ATR):c.4712del (p.Ser1571fs)
NM_001184.4(ATR):c.6558_6562del (p.Tyr2187fs)
NM_001184.4(ATR):c.6687+2T>C rs2071168232
NM_001184.4(ATR):c.979_980del (p.Val327fs) rs773937499
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu) rs796052811
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1505_1554del (p.Val502fs) rs1928379522
NM_001184880.2(PCDH19):c.1636_1639dup (p.Ala547fs)
NM_001184880.2(PCDH19):c.200C>A (p.Ser67Ter) rs868762744
NM_001184880.2(PCDH19):c.2147+1G>A rs1555984947
NM_001184880.2(PCDH19):c.2575C>T (p.Gln859Ter) rs2147532974
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser) rs1928437614
NM_001184880.2(PCDH19):c.81C>G (p.Tyr27Ter) rs56307810
NM_001184880.2(PCDH19):c.966dup (p.Pro323fs) rs796052842
NM_001190274.2(FBXO11):c.1537G>T (p.Gly513Ter)
NM_001190274.2(FBXO11):c.2224C>T (p.Arg742Ter) rs2104657995
NM_001190274.2(FBXO11):c.2327del (p.Gly776fs)
NM_001190274.2(FBXO11):c.2758G>T (p.Glu920Ter) rs1670353845
NM_001190274.2(FBXO11):c.602_603insCGATATATATATCCTGATATATATATATATCA (p.Met201fs) rs1672531686
NM_001190737.2(NFIB):c.844G>T (p.Glu282Ter)
NM_001193315.2(VIPAS39):c.643C>T (p.Arg215Ter) rs377615868
NM_001195248.2(APTX):c.739C>T (p.Arg247Ter)
NM_001195248.2(APTX):c.940_956del (p.Lys314fs) rs1828552847
NM_001195263.2(PDZD7):c.1337del (p.Gln446fs) rs1852828620
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter) rs1554834161
NM_001195263.2(PDZD7):c.1841+2T>A
NM_001195553.2(DCX):c.365-1G>T rs2147263424
NM_001195553.2(DCX):c.556C>T (p.Arg186Cys) rs587783562
NM_001197104.2(KMT2A):c.11230C>T (p.Arg3744Ter) rs1057520053
NM_001197104.2(KMT2A):c.1704dup (p.Pro569fs) rs2134263745
NM_001197104.2(KMT2A):c.2233C>T (p.Arg745Ter) rs727503777
NM_001197104.2(KMT2A):c.2413C>T (p.Gln805Ter) rs2134268340
NM_001197104.2(KMT2A):c.3190C>T (p.Arg1064Ter) rs1555037629
NM_001197104.2(KMT2A):c.3497A>C (p.Asp1166Ala) rs1950071002
NM_001197104.2(KMT2A):c.4504C>T (p.Arg1502Ter) rs150800017
NM_001197104.2(KMT2A):c.5332del (p.Arg1778fs)
NM_001197104.2(KMT2A):c.5419C>T (p.Gln1807Ter) rs1565296895
NM_001197104.2(KMT2A):c.6305dup (p.Thr2103fs) rs1555045506
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter) rs200497972
NM_001197104.2(KMT2A):c.889del (p.Val297fs) rs1949951988
NM_001197104.2(KMT2A):c.9629_9636del (p.Leu3210fs) rs1950565905
NM_001197104.2(KMT2A):c.9910_9911del (p.Leu3304fs) rs886041834
NM_001199107.2(TBC1D24):c.910C>T (p.Gln304Ter)
NM_001199397.3(NEK1):c.1097_1098del (p.Arg366fs)
NM_001199397.3(NEK1):c.988del (p.His330fs)
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001201543.2(FAM161A):c.730del (p.Gln243_Met244insTer) rs1167380267
NM_001204.7(BMPR2):c.648_658delinsGATATGGAC (p.Val217fs)
NM_001204375.2(NPR3):c.658dup (p.Val220fs)
NM_001205293.3(CACNA1E):c.2094C>A (p.Phe698Leu) rs1445829303
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001220.5(CAMK2B):c.903+1G>A rs1554385102
NM_001242.5(CD27):c.158G>A (p.Cys53Tyr) rs397514667
NM_001242.5(CD27):c.266_267del (p.Ser89fs) rs2136960831
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter) rs1057519107
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter) rs886039263
NM_001242896.3(DEPDC5):c.1912C>T (p.Gln638Ter)
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs) rs2082695884
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.2773_2774del (p.Ile925fs)
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.3(DEPDC5):c.3973del (p.Ser1325fs) rs2093122605
NM_001242896.3(DEPDC5):c.4197dup (p.Glu1400fs) rs2093489538
NM_001242896.3(DEPDC5):c.4519+1G>A rs1555942720
NM_001242896.3(DEPDC5):c.4709delinsGGTTT (p.Asp1570fs) rs2149449730
NM_001242896.3(DEPDC5):c.675del (p.Tyr226fs) rs2085727488
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) rs151344629
NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val) rs121908149
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.1699G>A (p.Glu567Lys) rs104895389
NM_001243133.2(NLRP3):c.778_780delinsTGG (p.Arg260Trp) rs2103107063
NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys) rs180177470
NM_001243197.2(IQSEC2):c.12dup (p.Gly5fs) rs1252463400
NM_001244008.2(KIF1A):c.1529del (p.Pro510fs) rs1057519164
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_001244008.2(KIF1A):c.275G>A (p.Cys92Tyr)
NM_001244008.2(KIF1A):c.31C>T (p.Arg11Trp) rs548204329
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His) rs2054757914
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.738_739del (p.Gly247fs) rs1553390600
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.992_999del (p.Gln331fs)
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.567T>G (p.Tyr189Ter)
NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys) rs137852999
NM_001256789.3(CACNA1F):c.1118+1G>C rs2065841382
NM_001256789.3(CACNA1F):c.2791_2792del (p.Met931fs) rs1602639528
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.342del (p.Phe115fs)
NM_001256789.3(CACNA1F):c.3862C>T (p.Arg1288Ter) rs2065670611
NM_001256789.3(CACNA1F):c.396C>G (p.Tyr132Ter) rs2065872186
NM_001256789.3(CACNA1F):c.431_432dup (p.Lys145fs)
NM_001256789.3(CACNA1F):c.5481G>A (p.Trp1827Ter) rs2065589645
NM_001256789.3(CACNA1F):c.784C>T (p.Arg262Ter) rs1557110988
NM_001257180.2(SLC20A2):c.1423A>T (p.Lys475Ter) rs759413136
NM_001257180.2(SLC20A2):c.1440_1443dup (p.Glu482fs) rs2131003774
NM_001257180.2(SLC20A2):c.1523+1G>A
NM_001257180.2(SLC20A2):c.1523+1G>T rs2131003180
NM_001257180.2(SLC20A2):c.1681A>T (p.Lys561Ter)
NM_001257180.2(SLC20A2):c.431-2A>T
NM_001257180.2(SLC20A2):c.730_730+1del
NM_001260.3(CDK8):c.88G>T (p.Gly30Cys) rs1593218890
NM_001267550.2(TTN):c.101661dup (p.Leu33888fs) rs2154136332
NM_001267550.2(TTN):c.105520del (p.Arg35174fs) rs1688921542
NM_001267550.2(TTN):c.106019del (p.Gly35340fs) rs727504482
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.15904del (p.Val5302fs) rs2080892482
NM_001267550.2(TTN):c.19203del (p.Pro6401_Met6402insTer) rs2079817617
NM_001267550.2(TTN):c.26520_26521delinsT (p.Lys8840fs) rs2154297042
NM_001267550.2(TTN):c.32662del (p.Thr10888fs) rs2154274661
NM_001267550.2(TTN):c.37135C>T (p.Gln12379Ter) rs1281488157
NM_001267550.2(TTN):c.3727C>T (p.Gln1243Ter)
NM_001267550.2(TTN):c.38660del (p.Lys12887fs) rs761617432
NM_001267550.2(TTN):c.44016del (p.Arg14673fs)
NM_001267550.2(TTN):c.48396dup (p.Asn16133Ter)
NM_001267550.2(TTN):c.48638+1del
NM_001267550.2(TTN):c.51437-1G>C rs2055916646
NM_001267550.2(TTN):c.52684A>T (p.Lys17562Ter) rs2055391062
NM_001267550.2(TTN):c.56257C>T (p.Gln18753Ter) rs1559669986
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter) rs2051361827
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.75423_75430delinsTAA (p.Thr25142fs)
NM_001267550.2(TTN):c.76393_76396del (p.Thr25464_Asn25465insTer) rs727504483
NM_001267550.2(TTN):c.78248_78249del (p.Tyr26083fs)
NM_001267550.2(TTN):c.8117-1G>T
NM_001267550.2(TTN):c.84066del (p.Lys28023fs)
NM_001267550.2(TTN):c.85047dup (p.Asp28350fs) rs2154159302
NM_001267550.2(TTN):c.85200_85203del (p.Arg28401fs) rs1703415128
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95306_95312del (p.Val31769fs)
NM_001267550.2(TTN):c.99052C>T (p.Gln33018Ter)
NM_001270508.2(TNFAIP3):c.105del (p.Ile36fs)
NM_001270508.2(TNFAIP3):c.1836C>A (p.Cys612Ter)
NM_001271.4(CHD2):c.1802_1809+46del
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.3445_3448del (p.Pro1149fs) rs2054119238
NM_001271.4(CHD2):c.3786_3787del (p.Val1263fs) rs869312877
NM_001271.4(CHD2):c.4567C>T (p.Gln1523Ter) rs372786805
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.696C>G (p.Tyr232Ter)
NM_001271069.2(MAX):c.186T>G (p.Tyr62Ter)
NM_001272071.2(AP1S2):c.178dup (p.Arg60fs) rs1934205000
NM_001276270.2(MBD4):c.1253_1254del (p.Lys418fs)
NM_001276270.2(MBD4):c.803_804del (p.Val267_Cys268insTer)
NM_001276345.2(TNNT2):c.851+1G>A rs111377893
NM_001277115.2(DNAH11):c.3791_3792del (p.Arg1264fs) rs749926976
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278512.2(AP3B2):c.659del (p.Asn220fs) rs2151441246
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter) rs398123059
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs) rs1554215986
NM_001282225.2(ADA2):c.1223G>A (p.Cys408Tyr)
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) rs202134424
NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp) rs202134424
NM_001282225.2(ADA2):c.144dup (p.Arg49fs) rs756881285
NM_001282531.3(ADNP):c.1132dup (p.Tyr378fs) rs1981049319
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2194_2197del (p.Leu732fs) rs1555809984
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001282531.3(ADNP):c.56_57del (p.Val19fs) rs1600956591
NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter) rs1057518991
NM_001282531.3(ADNP):c.712C>T (p.Gln238Ter) rs1981115656
NM_001282684.2(KCTD17):c.413G>A (p.Arg138His) rs786205860
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001286577.2(C2CD3):c.1201del (p.Gln401fs)
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001287.6(CLCN7):c.1424dup (p.Ser476fs) rs2142372943
NM_001287.6(CLCN7):c.2053_2072delinsT (p.Ile685fs) rs2142366086
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) rs387907576
NM_001287491.2(TET3):c.3234_3235delinsC (p.Lys1078fs)
NM_001288705.3(CSF1R):c.1682_1683insAA (p.Tyr561Ter)
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr) rs281860274
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs) rs779685748
NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu) rs144451841
NM_001291415.2(KDM6A):c.2079+1G>T rs2044409446
NM_001291415.2(KDM6A):c.2328_2329del (p.Leu777fs)
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001291415.2(KDM6A):c.962G>A (p.Trp321Ter)
NM_001291867.2(NHS):c.4151C>G (p.Ser1384Ter) rs2066464113
NM_001292034.3(TAB2):c.1719del (p.Arg574fs) rs2114941976
NM_001292034.3(TAB2):c.917dup (p.Ser307fs)
NM_001292063.2(OTOG):c.2214C>A (p.Cys738Ter)
NM_001292063.2(OTOG):c.906G>A (p.Trp302Ter)
NM_001297.5(CNGB1):c.1120_1121+2del rs778884136
NM_001297.5(CNGB1):c.315G>A (p.Trp105Ter) rs1420628245
NM_001298.3(CNGA3):c.1116dup (p.Val373fs) rs958089715
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.1814_1826del (p.Ile605fs) rs1692935801
NM_001303052.2(MYT1L):c.1174dup (p.Arg392fs)
NM_001303052.2(MYT1L):c.1532G>A (p.Cys511Tyr)
NM_001303052.2(MYT1L):c.1975C>T (p.Arg659Ter) rs745333246
NM_001303052.2(MYT1L):c.2450G>A (p.Trp817Ter)
NM_001303256.3(MORC2):c.707A>C (p.Glu236Ala) rs886037934
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001305581.2(LRMDA):c.583del (p.Glu195fs) rs1840809914
NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter) rs1085307703
NM_001320.7(CSNK2B):c.13G>T (p.Glu5Ter)
NM_001320.7(CSNK2B):c.192del (p.Asp64fs)
NM_001320.7(CSNK2B):c.494A>G (p.His165Arg) rs1802026476
NM_001320.7(CSNK2B):c.59_62dup (p.Phe21fs)
NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys) rs121909129
NM_001320752.2(STS):c.1007C>T (p.Ser336Leu) rs137853167
NM_001321075.3(DLG4):c.1184_1186+7del rs2142843440
NM_001321075.3(DLG4):c.1201G>T (p.Glu401Ter) rs2069778929
NM_001321075.3(DLG4):c.193del (p.Glu65fs) rs2070316114
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001322934.2(NFKB2):c.2611C>T (p.Gln871Ter) rs2061279365
NM_001323289.2(CDKL5):c.146-1G>A rs587783399
NM_001323289.2(CDKL5):c.1471dup (p.Ala491fs) rs1602286449
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.1744dup (p.Ser582fs)
NM_001323289.2(CDKL5):c.1813dup (p.Gln605fs)
NM_001323289.2(CDKL5):c.2101dup (p.Arg701fs) rs2147164710
NM_001323289.2(CDKL5):c.2432del (p.Ala811fs) rs1927001903
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.413C>T (p.Pro138Leu) rs587783081
NM_001323289.2(CDKL5):c.463+5G>A rs886042303
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) rs267608500
NM_001323289.2(CDKL5):c.766C>T (p.Gln256Ter) rs1555951142
NM_001323289.2(CDKL5):c.80T>C (p.Val27Ala)
NM_001323289.2(CDKL5):c.989_1010del (p.Gly330fs) rs1926254082
NM_001329943.3(KIAA0586):c.1362+2T>C rs901508284
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs) rs745949846
NM_001330260.2(SCN8A):c.1118A>G (p.Glu373Gly) rs1555219158
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.3552G>A (p.Trp1184Ter)
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4683_4686del (p.Phe1561fs)
NM_001330260.2(SCN8A):c.4862T>G (p.Leu1621Trp) rs879255707
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.752T>G (p.Leu251Arg) rs1941649906
NM_001330260.2(SCN8A):c.786_799del (p.Ser263fs)
NM_001330260.2(SCN8A):c.832C>T (p.Arg278Ter) rs1555218657
NM_001330288.2(SMARCC2):c.163C>T (p.Gln55Ter)
NM_001330288.2(SMARCC2):c.1958_1959del (p.Lys653fs)
NM_001330360.2(POLA1):c.1393-354A>G rs869312979
NM_001330691.3(CEP78):c.1400_1402delinsCTTT (p.Leu467fs) rs1827340429
NM_001330701.2(AGTPBP1):c.3349C>T (p.Gln1117Ter)
NM_001347721.2(DYRK1A):c.1015G>T (p.Gly339Trp) rs2053152079
NM_001347721.2(DYRK1A):c.1212+1G>A rs2053266370
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.457del (p.Asp153fs)
NM_001347721.2(DYRK1A):c.474del (p.Gly159fs) rs2052612748
NM_001347721.2(DYRK1A):c.497dup (p.Ala167fs) rs2148600566
NM_001347721.2(DYRK1A):c.525G>A (p.Trp175Ter)
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) rs1064796367
NM_001347721.2(DYRK1A):c.681_685del (p.Leu227fs)
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter) rs886041291
NM_001347721.2(DYRK1A):c.905C>A (p.Ser302Tyr)
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001348323.3(TRIP12):c.4695+1G>A rs2154257791
NM_001348716.2(KDM6B):c.1416_1417del (p.Cys473fs) rs2078587931
NM_001348716.2(KDM6B):c.2278_2336del (p.Thr760fs)
NM_001348716.2(KDM6B):c.4500C>A (p.Tyr1500Ter)
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln) rs878854416
NM_001348800.3(ZBTB20):c.1832G>A (p.Cys611Tyr)
NM_001349206.2(LPIN1):c.1129C>T (p.Gln377Ter) rs1673720739
NM_001349206.2(LPIN1):c.1367del (p.Pro456fs) rs1558903736
NM_001349253.2(SCN11A):c.665G>A (p.Arg222His) rs1230622899
NM_001349338.3(FOXP1):c.1396C>A (p.Pro466Thr) rs1057518926
NM_001349338.3(FOXP1):c.1409A>G (p.Tyr470Cys) rs769448730
NM_001349338.3(FOXP1):c.1489C>T (p.Arg497Ter) rs775136381
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001349338.3(FOXP1):c.214C>T (p.Gln72Ter) rs2107748579
NM_001349338.3(FOXP1):c.508G>T (p.Glu170Ter)
NM_001349338.3(FOXP1):c.559C>T (p.Gln187Ter)
NM_001349338.3(FOXP1):c.972delA (p.Lys325fs)
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys) rs867384286
NM_001350162.2(TEX15):c.2574_2577del (p.Thr859fs) rs565708396
NM_001350162.2(TEX15):c.3958C>T (p.Arg1320Ter)
NM_001351169.2(NT5C2):c.85C>T (p.Arg29Ter) rs587777173
NM_001353214.3(DYM):c.2103_2107del (p.Val702fs) rs2071152135
NM_001353345.2(SETD1B):c.1371dup (p.Asp458fs) rs2137552415
NM_001353345.2(SETD1B):c.2983G>T (p.Glu995Ter)
NM_001353345.2(SETD1B):c.3961dup (p.Leu1321fs)
NM_001353345.2(SETD1B):c.4170_4171del (p.Gly1392fs) rs2137578021
NM_001353345.2(SETD1B):c.5403del (p.Gln1801fs)
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter) rs1135401795
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.1331_1343dup (p.Asp449fs) rs2066649828
NM_001354604.2(MITF):c.397C>T (p.Gln133Ter) rs2065878986
NM_001354604.2(MITF):c.704C>G (p.Ser235Ter) rs876657700
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354768.3(NRL):c.152C>T (p.Pro51Leu) rs2036353653
NM_001355436.2(SPTB):c.2312del (p.Val771fs)
NM_001355436.2(SPTB):c.2893del (p.Glu965fs)
NM_001355436.2(SPTB):c.3765-1G>A
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001355436.2(SPTB):c.4716_4729del (p.Gly1575fs)
NM_001355436.2(SPTB):c.5000_5001insGCCC (p.Val1668fs) rs2082308925
NM_001355436.2(SPTB):c.5789_5798+1del
NM_001355436.2(SPTB):c.6640G>T (p.Glu2214Ter)
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val) rs796052236
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.5(DDX3X):c.197dup (p.Asp67fs) rs2063850491
NM_001356.5(DDX3X):c.233C>A (p.Ser78Ter) rs886041589
NM_001356.5(DDX3X):c.453_454del (p.Ser152fs) rs2147350816
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter) rs2147340483
NM_001356.5(DDX3X):c.865-1G>C rs1255183431
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter) rs1453153749
NM_001356.5(DDX3X):c.95del (p.Thr32fs) rs2063787500
NM_001356.5(DDX3X):c.977G>A (p.Arg326His) rs797045025
NM_001358263.1(HK1):c.-270G>C rs397514654
NM_001358530.2(MOCS1):c.1102+1G>A rs146075796
NM_001358530.2(MOCS1):c.253C>T (p.Gln85Ter) rs1768262580
NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) rs1591107040
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) rs782322505
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001364905.1(LRBA):c.2766+2T>C rs1752898179
NM_001364905.1(LRBA):c.6829del (p.Tyr2277fs) rs2151995564
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs) rs1264504989
NM_001364905.1(LRBA):c.839del (p.Lys280fs) rs1553998602
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365276.2(TNXB):c.10215_10216delinsT (p.Gln3405fs)
NM_001365276.2(TNXB):c.10616del (p.Glu3539fs)
NM_001365276.2(TNXB):c.3288del (p.Gln1095_Tyr1096insTer) rs1779660599
NM_001365276.2(TNXB):c.7440delinsAC (p.Tyr2480Ter) rs2151907055
NM_001365276.2(TNXB):c.8278C>T (p.Gln2760Ter)
NM_001365276.2(TNXB):c.9937C>T (p.Arg3313Ter)
NM_001365308.1(BMPER):c.1648_1649del (p.Val550fs)
NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met) rs1553491169
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) rs80356474
NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe) rs121908913
NM_001365902.3(NFIX):c.113G>A (p.Arg38His) rs2013223468
NM_001365902.3(NFIX):c.1188del (p.Gln397fs) rs2017487230
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_001365902.3(NFIX):c.394G>T (p.Val132Phe) rs2145192919
NM_001365902.3(NFIX):c.43_49dup (p.Glu17fs) rs1599737421
NM_001365902.3(NFIX):c.442G>T (p.Glu148Ter) rs2013260314
NM_001365902.3(NFIX):c.84C>A (p.Tyr28Ter) rs2013220977
NM_001365902.3(NFIX):c.977C>A (p.Ser326Ter)
NM_001365999.1(SZT2):c.750dup (p.Leu251fs) rs1651685926
NM_001365999.1(SZT2):c.8752C>T (p.Gln2918Ter)
NM_001365999.1(SZT2):c.9040C>T (p.Arg3014Ter)
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001366521.1(ATP2B1):c.1789C>T (p.Arg597Ter) rs1879711772
NM_001367561.1(DOCK7):c.5049del (p.Pro1684fs) rs1064797112
NM_001367561.1(DOCK7):c.5418del (p.Ala1807fs) rs1646379664
NM_001367721.1(CASK):c.1508del (p.Ile503fs) rs2065379291
NM_001367721.1(CASK):c.1843-2A>T rs2065129964
NM_001367721.1(CASK):c.588C>G (p.Tyr196Ter) rs1008303488
NM_001367721.1(CASK):c.721C>T (p.Gln241Ter) rs2067016341
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001367873.1(SOX6):c.277C>T (p.Arg93Ter) rs376018780
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001368397.1(FRMPD4):c.933+1G>A rs2060108128
NM_001368809.2(AMPD2):c.134_138del (p.Arg45fs) rs1650570861
NM_001368894.2(PAX6):c.1074+1G>A rs1950507886
NM_001368894.2(PAX6):c.1309T>C (p.Ter437Gln) rs750848278
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.141+1G>C rs1554985714
NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg) rs1131692293
NM_001368894.2(PAX6):c.399+1G>A rs398123295
NM_001368894.2(PAX6):c.399C>A (p.Ser133Arg) rs121907928
NM_001368894.2(PAX6):c.844_845dup (p.Glu283fs)
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter) rs1057517785
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.3(DNAH5):c.4830dup (p.Trp1611fs)
NM_001369.3(DNAH5):c.8032C>T (p.Gln2678Ter) rs988596344
NM_001369268.1(ACAN):c.2023C>T (p.Arg675Ter) rs1356219990
NM_001369268.1(ACAN):c.6912C>A (p.Cys2304Ter)
NM_001369369.1(FOXN1):c.1178del (p.Gly393fs)
NM_001369369.1(FOXN1):c.1318C>T (p.Gln440Ter)
NM_001370100.5(ZMYND11):c.1072C>T (p.Arg358Ter) rs1554792556
NM_001370100.5(ZMYND11):c.1317_1320del (p.Thr440fs) rs1388355040
NM_001370100.5(ZMYND11):c.1769G>A (p.Trp590Ter) rs2132046225
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001370100.5(ZMYND11):c.613_616del (p.Val205fs) rs1950520565
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.601A>T (p.Lys201Ter) rs1941854974
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter) rs118203972
NM_001370298.3(FGD4):c.2141G>A (p.Arg714Gln) rs372890690
NM_001370298.3(FGD4):c.875_878del (p.Ser292fs)
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) rs104895462
NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) rs104895461
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser) rs397514335
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.249+2C>G
NM_001370658.1(BTD):c.38_44del (p.Cys13fs)
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.827T>G (p.Val276Gly) rs397514391
NM_001371279.1(REEP1):c.175del (p.Leu59fs) rs1677003855
NM_001371279.1(REEP1):c.304-2A>C
NM_001371279.1(REEP1):c.340_347del (p.Ser114fs) rs1676310949
NM_001371279.1(REEP1):c.429_430dup (p.Leu144fs)
NM_001371279.1(REEP1):c.478del (p.Arg160fs) rs1675100502
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) rs121918262
NM_001371596.2(MFSD8):c.553+1G>A rs1553950197
NM_001371596.2(MFSD8):c.754+1G>A rs868732642
NM_001371596.2(MFSD8):c.754+1G>C rs868732642
NM_001371623.1(TCOF1):c.1017dup (p.Glu340fs)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001371623.1(TCOF1):c.646_650del (p.Pro216fs) rs1762643909
NM_001371727.1(GABRB2):c.946G>A (p.Val316Ile) rs1554093884
NM_001371928.1(AHDC1):c.1759C>T (p.Arg587Ter) rs886041620
NM_001371928.1(AHDC1):c.3773C>G (p.Ser1258Ter) rs2148265222
NM_001371986.1(UNC80):c.1357del (p.Arg453fs) rs1574574226
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs) rs1575147319
NM_001372.4(DNAH9):c.308dup (p.Leu104fs) rs769795916
NM_001372044.2(SHANK3):c.2056_2059delinsCA (p.Glu686fs)
NM_001372044.2(SHANK3):c.2455+1G>C
NM_001372044.2(SHANK3):c.2541-1G>C rs2083271355
NM_001372044.2(SHANK3):c.2838C>A (p.Tyr946Ter) rs1001153999
NM_001372044.2(SHANK3):c.2962_2996del (p.Thr988fs) rs2083275468
NM_001372044.2(SHANK3):c.3904dup (p.Ala1302fs) rs762292772
NM_001372044.2(SHANK3):c.3907G>T (p.Glu1303Ter) rs761720914
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) rs886041238
NM_001372044.2(SHANK3):c.3996_4000dup (p.Pro1334fs) rs2146832177
NM_001372044.2(SHANK3):c.4265del (p.Pro1422fs)
NM_001372044.2(SHANK3):c.4647G>A (p.Trp1549Ter) rs2146833570
NM_001372044.2(SHANK3):c.4740_4746dup (p.Thr1583fs) rs2083299114
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs) rs1603447373
NM_001372044.2(SHANK3):c.756_757del (p.Phe253fs)
NM_001372066.1(TFAP2A):c.713G>C (p.Arg238Pro) rs2114014389
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574
NM_001374353.1(GLI2):c.1408C>T (p.Gln470Ter)
NM_001374353.1(GLI2):c.2286del (p.Ala763fs) rs2105084665
NM_001374353.1(GLI2):c.3616C>T (p.Gln1206Ter) rs1683184393
NM_001374736.1(DST):c.20987_20988dup (p.Asp6997fs)
NM_001374828.1(ARID1B):c.1293_1311del (p.Gly434fs) rs943407609
NM_001374828.1(ARID1B):c.1293_1311dup (p.Gly438fs) rs943407609
NM_001374828.1(ARID1B):c.1628del (p.Ala543fs)
NM_001374828.1(ARID1B):c.2039_2049del (p.Gln680fs) rs1788925132
NM_001374828.1(ARID1B):c.2359C>T (p.Gln787Ter) rs753933273
NM_001374828.1(ARID1B):c.2411dup (p.Ser806fs) rs1554294674
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter) rs797045272
NM_001374828.1(ARID1B):c.3505-2A>G rs2128316571
NM_001374828.1(ARID1B):c.3692_3693del (p.Lys1231fs) rs876657380
NM_001374828.1(ARID1B):c.3997del (p.Asp1332_Leu1333insTer) rs2128338892
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter) rs773740590
NM_001374828.1(ARID1B):c.4822_4835dup (p.Tyr1613fs)
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter) rs1554236040
NM_001374828.1(ARID1B):c.5707C>T (p.Gln1903Ter) rs750447037
NM_001374828.1(ARID1B):c.6730del (p.Asp2244fs) rs1794557198
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001374828.1(ARID1B):c.966_981dup (p.Gly328fs) rs1778877596
NM_001375380.1(EBF3):c.237dup (p.Gln80fs)
NM_001375380.1(EBF3):c.347dup (p.Tyr116Ter)
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp) rs779003155
NM_001375380.1(EBF3):c.661G>A (p.Val221Met) rs2134108332
NM_001375567.1(FOCAD):c.4051+2T>C
NM_001375905.1(SGMS2):c.148C>T (p.Arg50Ter) rs1560667389
NM_001376.5(DYNC1H1):c.1012G>C (p.Asp338His) rs1555408131
NM_001376.5(DYNC1H1):c.10151G>A (p.Arg3384Gln) rs397509411
NM_001376.5(DYNC1H1):c.1834G>A (p.Val612Met) rs1555408333
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.3395G>A (p.Gly1132Glu) rs2141280974
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376013.1(EPB41):c.1059dup (p.Lys354Ter)
NM_001377.3(DYNC2H1):c.10798_10799del (p.Met3600fs)
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val) rs901629870
NM_001377265.1(MAPT):c.1999-10G>T rs63749974
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) rs63750756
NM_001377265.1(MAPT):c.2060ATA[1] (p.Asn688del) rs63751392
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001377299.1(NDUFS2):c.442G>A (p.Glu148Lys) rs1665637127
NM_001378120.1(MBD5):c.68del (p.Val23fs) rs2105537032
NM_001378183.1(PIEZO2):c.1065G>A (p.Trp355Ter)
NM_001378183.1(PIEZO2):c.1080+1G>A rs2040024535
NM_001378183.1(PIEZO2):c.1444del (p.Arg482fs) rs2144239123
NM_001378183.1(PIEZO2):c.4049del (p.Phe1350fs)
NM_001378183.1(PIEZO2):c.5960del (p.Leu1987fs) rs1057519425
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del) rs1555621138
NM_001378418.1(TCF20):c.2244del (p.Lys748fs) rs2147212644
NM_001378418.1(TCF20):c.235dup (p.Tyr79fs) rs2147223453
NM_001378418.1(TCF20):c.5570del (p.Gly1857fs)
NM_001378452.1(ITPR1):c.3025C>T (p.Arg1009Ter)
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001378452.1(ITPR1):c.7660G>C (p.Gly2554Arg) rs752281590
NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu) rs869312685
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.550del (p.Glu183_Val184insTer) rs1671239229
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.7641_7644dup (p.Gly2549fs)
NM_001378454.1(ALMS1):c.964G>T (p.Glu322Ter) rs752084128
NM_001378477.3(NYX):c.23-1_23delinsTT rs1555967031
NM_001378477.3(NYX):c.506dup (p.Pro170fs) rs2147025679
NM_001378609.3(OTOGL):c.1834A>T (p.Arg612Ter) rs1338746267
NM_001378609.3(OTOGL):c.3675del (p.Ser1226fs)
NM_001378609.3(OTOGL):c.4273C>T (p.Arg1425Ter) rs564117765
NM_001378609.3(OTOGL):c.4543C>T (p.Arg1515Ter)
NM_001378615.1(CC2D2A):c.1005del (p.Met336fs)
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs) rs863225175
NM_001378687.1(ATP2C1):c.117+1del rs2108346361
NM_001378743.1(CYLD):c.890_892delinsGT (p.Leu297fs)
NM_001378778.1(MPDZ):c.1087-1G>A rs1463452514
NM_001378778.1(MPDZ):c.3508C>T (p.Arg1170Ter)
NM_001379110.1(SLC9A6):c.1342C>T (p.Arg448Ter) rs122461162
NM_001379200.1(TBX1):c.364C>T (p.Gln122Ter)
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001379403.1(WDR26):c.1354dup (p.Thr452fs)
NM_001379403.1(WDR26):c.1945-2A>G
NM_001379500.1(COL18A1):c.268del (p.Arg90fs) rs2035293928
NM_001379500.1(COL18A1):c.2917C>T (p.Gln973Ter) rs2037117656
NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs) rs756797124
NM_001379659.1(ZNF142):c.3755del (p.Gly1252fs)
NM_001379659.1(ZNF142):c.4334T>A (p.Leu1445Ter)
NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser) rs1393162163
NM_001382567.1(STIM1):c.326A>G (p.His109Arg) rs397514677
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter) rs1264383341
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter) rs2094144044
NM_001384140.1(PCDH15):c.2511dup (p.Ile838fs)
NM_001384140.1(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_001384140.1(PCDH15):c.3757del (p.Ser1253fs) rs2078810640
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter) rs1943288780
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.1971-2A>G
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2045C>G (p.Ser682Ter) rs1796506869
NM_001384732.1(CPLANE1):c.2291+2T>C rs1051234664
NM_001384732.1(CPLANE1):c.3030_3033del (p.Phe1010fs) rs2150128983
NM_001384732.1(CPLANE1):c.3545del (p.Asn1182fs) rs769153428
NM_001384732.1(CPLANE1):c.8425dup (p.Thr2809fs) rs775263897
NM_001384732.1(CPLANE1):c.9339dup (p.Ala3114fs) rs1760511597
NM_001384732.1(CPLANE1):c.9376C>T (p.Gln3126Ter) rs759580516
NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu) rs1582323732
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777
NM_001385012.1(NBEA):c.1400C>A (p.Ser467Ter)
NM_001385012.1(NBEA):c.2652-1G>C rs2152709004
NM_001385012.1(NBEA):c.4424-1G>C
NM_001385012.1(NBEA):c.526+1G>T
NM_001385012.1(NBEA):c.639del (p.Ala213_Val214insTer)
NM_001385079.1(PDE10A):c.2575C>T (p.Gln859Ter) rs1785445977
NM_001386125.1(OBSCN):c.9434_9438del (p.Tyr3145fs)
NM_001386298.1(CIC):c.4604del (p.Asn1535fs)
NM_001386298.1(CIC):c.6292del (p.Val2098fs)
NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs) rs1600542260
NM_001387263.1(PATL2):c.516-2A>G
NM_001394372.1(BICRA):c.2935dup (p.Ala979fs) rs756990560
NM_001394998.1(TANC2):c.3075del (p.Gln1026fs)
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001429.4(EP300):c.2305C>T (p.Gln769Ter) rs2145735938
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) rs1555910482
NM_001429.4(EP300):c.4213del (p.Arg1405fs)
NM_001429.4(EP300):c.4301A>T (p.His1434Leu)
NM_001430.5(EPAS1):c.1609G>A (p.Gly537Arg) rs137853036
NM_001448.3(GPC4):c.654_656delinsTTAC (p.Arg219fs) rs2124120509
NM_001453.3(FOXC1):c.236C>A (p.Pro79Gln)
NM_001457.4(FLNB):c.2367_2371del (p.Ser789fs)
NM_001457.4(FLNB):c.6010C>T (p.Arg2004Ter) rs121908897
NM_001458.5(FLNC):c.4050del (p.Thr1351fs) rs2128936867
NM_001458.5(FLNC):c.4288+1del
NM_001458.5(FLNC):c.4457-1G>C
NM_001458.5(FLNC):c.6053_6054dup (p.Lys2019fs) rs2128938886
NM_001458.5(FLNC):c.7467_7474del (p.Ser2490fs) rs2128940244
NM_001458.5(FLNC):c.752T>C (p.Met251Thr) rs387906586
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter) rs121909518
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.172del (p.Leu58fs) rs768456339
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001555.5(IGSF1):c.3043G>T (p.Gly1015Ter)
NM_001555.5(IGSF1):c.3763C>T (p.Gln1255Ter) rs2124076001
NM_001563.4(IMPG1):c.151dup (p.Met51fs) rs761247695
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001606.5(ABCA2):c.4213C>T (p.Gln1405Ter) rs1314532521
NM_001614.5(ACTG1):c.354G>T (p.Lys118Asn) rs267606630
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.767G>A (p.Arg256Gln) rs1555666624
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) rs587777385
NM_001615.4(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys) rs78001248
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001625.4(AK2):c.453del (p.Tyr152fs) rs1553151177
NM_001655.5(ARCN1):c.941del (p.Arg314fs)
NM_001750.7(CAST):c.694G>T (p.Gly232Ter)
NM_001754.5(RUNX1):c.1216del (p.Tyr406fs) rs2056453972
NM_001754.5(RUNX1):c.339del (p.Ile114fs) rs1569084032
NM_001759.4(CCND2):c.793C>T (p.Gln265Ter) rs1864224611
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_001776.6(ENTPD1):c.185T>G (p.Leu62Ter)
NM_001791.4(CDC42):c.101C>A (p.Pro34Gln) rs1645575465
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) rs797044916
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) rs587777161
NM_001844.5(COL2A1):c.1034G>A (p.Gly345Asp) rs1939617011
NM_001844.5(COL2A1):c.1366-1G>A
NM_001844.5(COL2A1):c.1537G>A (p.Gly513Ser) rs1555167156
NM_001844.5(COL2A1):c.2095G>C (p.Gly699Arg) rs2136551691
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3599G>A (p.Gly1200Asp) rs1362154291
NM_001844.5(COL2A1):c.509dup (p.Gly171fs) rs1940022093
NM_001844.5(COL2A1):c.85C>T (p.Gln29Ter) rs1940368506
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2291G>A (p.Gly764Asp) rs1566353677
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2690G>T (p.Gly897Val)
NM_001845.6(COL4A1):c.3041G>A (p.Gly1014Asp)
NM_001845.6(COL4A1):c.3158G>T (p.Gly1053Val)
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg) rs1877796698
NM_001848.3(COL6A1):c.1003-1G>A rs886043330
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp) rs121912935
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu) rs2077759104
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu) rs1603590637
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.887G>A (p.Gly296Glu) rs1603590649
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.4(COL6A2):c.2258_2259del (p.Thr753fs) rs2078661471
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp) rs886042943
NM_001849.4(COL6A2):c.847G>C (p.Gly283Arg) rs267606748
NM_001851.6(COL9A1):c.188del (p.Phe63fs) rs1057519130
NM_001851.6(COL9A1):c.799G>T (p.Glu267Ter) rs1034243338
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001853.4(COL9A3):c.148-1G>A rs606231367
NM_001854.4(COL11A1):c.2611-2A>T
NM_001854.4(COL11A1):c.874G>T (p.Glu292Ter)
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) rs886039332
NM_001904.4(CTNNB1):c.2083del (p.Asp695fs)
NM_001904.4(CTNNB1):c.268C>T (p.Arg90Ter) rs1369821061
NM_001904.4(CTNNB1):c.553A>T (p.Arg185Ter) rs2078151590
NM_001904.4(CTNNB1):c.788del (p.Leu263fs) rs2078159857
NM_001904.4(CTNNB1):c.876_882del (p.Phe293fs) rs2078161525
NM_001904.4(CTNNB1):c.981_982del (p.Met328fs) rs2078198486
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter) rs886041281
NM_001913.5(CUX1):c.1855_1856del (p.Thr619fs) rs1369945414
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001927.4(DES):c.1255_1271del (p.Pro419fs) rs1553603732
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_001927.4(DES):c.1289-741G>A rs985650778
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) rs121913005
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.973C>T (p.Arg325Ter) rs959034410
NM_001942.4(DSG1):c.241C>T (p.Gln81Ter) rs1598699465
NM_001942.4(DSG1):c.2659C>T (p.Arg887Ter) rs1463828394
NM_001943.5(DSG2):c.1404del (p.Ile469fs)
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001953.5(TYMP):c.274del (p.Thr92fs) rs2069502314
NM_001953.5(TYMP):c.945G>A (p.Trp315Ter) rs1052593047
NM_001958.5(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser) rs587777162
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001972.4(ELANE):c.179T>C (p.Ile60Thr)
NM_001972.4(ELANE):c.544del (p.Arg182fs) rs2145148879
NM_001999.4(FBN2):c.4274G>A (p.Cys1425Tyr)
NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter) rs143418984
NM_002016.2(FLG):c.1117del (p.His373fs)
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2976_2977del (p.Arg992fs) rs776968118
NM_002016.2(FLG):c.4877C>G (p.Ser1626Ter) rs1354185952
NM_002016.2(FLG):c.557dup (p.Asn186fs) rs771721862
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) rs137852644
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp) rs60343255
NM_002055.5(GFAP):c.226C>T (p.Leu76Phe) rs57120761
NM_002055.5(GFAP):c.236G>A (p.Arg79His) rs59285727
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys) rs61622935
NM_002055.5(GFAP):c.716G>A (p.Arg239His) rs59565950
NM_002063.4(GLRA2):c.887C>T (p.Thr296Met) rs1601761445
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr) rs1570640673
NM_002085.5(GPX4):c.509_510del (p.Ile170fs) rs2079656861
NM_002087.4(GRN):c.1216del (p.Gln406fs) rs2143344327
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.1496del (p.Val499fs) rs2143347736
NM_002087.4(GRN):c.1558G>T (p.Glu520Ter) rs2143348249
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) rs63751243
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) rs63750411
NM_002087.4(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_002087.4(GRN):c.776dup (p.Cys260fs) rs1567887015
NM_002087.4(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.4(GRN):c.888_889del (p.Cys296fs)
NM_002087.4(GRN):c.898C>T (p.Gln300Ter) rs1555611253
NM_002087.4(GRN):c.918C>A (p.Cys306Ter) rs1598364782
NM_002109.6(HARS1):c.395C>T (p.Thr132Ile) rs143473232
NM_002161.6(IARS1):c.1156C>T (p.Arg386Ter)
NM_002180.3(IGHMBP2):c.1917del (p.Phe640fs)
NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs) rs754422011
NM_002180.3(IGHMBP2):c.647C>A (p.Pro216His) rs1594422676
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs) rs786205089
NM_002224.4(ITPR3):c.4271C>T (p.Thr1424Met)
NM_002225.5(IVD):c.1083del (p.Leu362fs)
NM_002225.5(IVD):c.1186G>C (p.Asp396His)
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) rs774455945
NM_002292.4(LAMB2):c.5260+1G>T
NM_002294.3(LAMP2):c.374del (p.Thr125fs) rs1921041608
NM_002294.3(LAMP2):c.65-2A>G rs397516743
NM_002317.7(LOX):c.732_735del (p.Cys244fs) rs779512296
NM_002335.4(LRP5):c.1861dup (p.His621fs) rs1303970751
NM_002335.4(LRP5):c.4349-1G>A rs2098677103
NM_002336.3(LRP6):c.2182C>T (p.Arg728Ter) rs1202176045
NM_002336.3(LRP6):c.3888dup (p.Ser1297fs)
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.5(SH2D1A):c.164G>A (p.Arg55Gln) rs111033630
NM_002381.5(MATN3):c.359C>T (p.Thr120Met) rs397515546
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_002397.5(MEF2C):c.-8C>T rs2153222958
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501
NM_002437.5(MPV17):c.185del (p.Val62fs) rs755624411
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu) rs1679497709
NM_002437.5(MPV17):c.462-18_*60del
NM_002439.5(MSH3):c.1035del (p.Pro346_Leu347insTer) rs1580553607
NM_002439.5(MSH3):c.1148dup (p.Asn385fs) rs587776701
NM_002439.5(MSH3):c.1579C>T (p.Gln527Ter) rs1204734473
NM_002439.5(MSH3):c.2319-1G>A rs866260675
NM_002439.5(MSH3):c.438_439delinsG (p.Pro147fs)
NM_002444.3(MSN):c.511C>T (p.Arg171Trp) rs1057519074
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg) rs1565943228
NM_002467.6(MYC):c.217A>G (p.Thr73Ala)
NM_002468.5(MYD88):c.154GAG[1] (p.Glu53del) rs878852993
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_002474.3(MYH11):c.2283C>G (p.Tyr761Ter)
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.436A>T (p.Lys146Ter)
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002516.4(NOVA2):c.720_721insCCGCGGATGTGCTTCCAGCC (p.Ala241fs) rs1967741386
NM_002516.4(NOVA2):c.755_764del (p.Leu252fs) rs2146406674
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002528.7(NTHL1):c.116-1G>A rs1411394625
NM_002528.7(NTHL1):c.211dup (p.Ala71fs) rs745671590
NM_002547.3(OPHN1):c.1173del (p.Lys392fs) rs2147457199
NM_002547.3(OPHN1):c.468_471del (p.Lys156fs) rs2147523877
NM_002578.5(PAK3):c.490_491insGGAG (p.Pro164fs) rs2094208830
NM_002582.4(PARN):c.529C>T (p.Gln177Ter) rs876661305
NM_002633.3(PGM1):c.28_37del (p.Gln10fs) rs759220275
NM_002637.4(PHKA1):c.2050G>T (p.Gly684Ter)
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter) rs387906726
NM_002662.5(PLD1):c.472C>T (p.Arg158Ter)
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.3070del (p.Asp1024fs)
NM_002693.3(POLG):c.3249_3256del (p.Glu1084fs)
NM_002693.3(POLG):c.3268_3269insT (p.Glu1090fs)
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.3(POLG):c.3601del (p.Ser1201fs) rs781311846
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002715.4(PPP2CA):c.401del (p.Cys133_Leu134insTer) rs2149383411
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002764.4(PRPS1):c.250C>T (p.Arg84Trp) rs2147681484
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002775.5(HTRA1):c.184_185del (p.Cys62fs)
NM_002775.5(HTRA1):c.272dup (p.Pro92fs)
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) rs587776446
NM_002778.4(PSAP):c.828_829del (p.Glu276fs) rs1589448124
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
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.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr) rs397507510
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
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.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002860.4(ALDH18A1):c.558+1G>A rs2097882117
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_002863.5(PYGL):c.1099G>T (p.Glu367Ter) rs1015110759
NM_002863.5(PYGL):c.702C>G (p.Tyr234Ter)
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs) rs753862052
NM_002878.4(RAD51D):c.357_360del (p.Cys119fs) rs876658297
NM_002878.4(RAD51D):c.748del (p.His250fs) rs587780105
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002887.4(RARS1):c.445G>T (p.Glu149Ter) rs2152903817
NM_002890.3(RASA1):c.1579_1582del (p.Val527fs) rs1760265136
NM_002890.3(RASA1):c.1934+2T>C
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.2925+1G>T rs1762099168
NM_002906.4(RDX):c.720del (p.Trp242fs)
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs) rs756235051
NM_002948.5(RPL15):c.165_172+16del
NM_002968.3(SALL1):c.633_634del (p.Gln212fs)
NM_002968.3(SALL1):c.718C>T (p.Gln240Ter)
NM_002968.3(SALL1):c.824T>A (p.Leu275Ter) rs1962426127
NM_002971.6(SATB1):c.1588G>A (p.Glu530Lys) rs1694399198
NM_002972.4(SBF1):c.1821dup (p.His608fs)
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.287-2A>G rs1064794270
NM_003000.3(SDHB):c.3G>A (p.Met1Ile) rs1131691061
NM_003000.3(SDHB):c.597C>G (p.Tyr199Ter)
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys) rs786203251
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter) rs1314133983
NM_003011.4(SET):c.488_489del (p.Gly163fs)
NM_003036.4(SKI):c.100G>T (p.Gly34Cys) rs387907306
NM_003041.4(SLC5A2):c.506del (p.Ala169fs)
NM_003042.3(SLC6A1):c.1328del rs1199489242
NM_003042.4(SLC6A1):c.1024G>A (p.Val342Met) rs760836450
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.1189C>T (p.Gln397Ter) rs1553690452
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.738C>A (p.Tyr246Ter) rs1559629701
NM_003052.5(SLC34A1):c.1271C>A (p.Ser424Ter)
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg) rs386134221
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_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys) rs281875192
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003072.5(SMARCA4):c.1141C>T (p.Arg381Ter) rs972341316
NM_003072.5(SMARCA4):c.2654G>A (p.Arg885His) rs1064794284
NM_003072.5(SMARCA4):c.3034C>T (p.Gln1012Ter)
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003073.5(SMARCB1):c.52C>T (p.Gln18Ter) rs1928044707
NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter) rs397509405
NM_003104.6(SORD):c.112dup (p.Arg38fs)
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003106.4(SOX2):c.314_317del (p.His105fs) rs1714848271
NM_003106.4(SOX2):c.368A>G (p.Asp123Gly) rs1249553271
NM_003106.4(SOX2):c.70_89del (p.Asn24fs) rs398123693
NM_003106.4(SOX2):c.905del (p.Pro302fs) rs2108523802
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1063A>T (p.Lys355Ter)
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003119.4(SPG7):c.1617del (p.Val540fs) rs762795756
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) rs748255454
NM_003119.4(SPG7):c.2216dup (p.Asn739fs) rs763126378
NM_003126.4(SPTA1):c.1867C>T (p.Gln623Ter)
NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter)
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.5530C>T (p.Arg1844Ter)
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln) rs1799747454
NM_003159.3(CDKL5):c.2748_2760del (p.His916fs)
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.552del (p.Lys185fs) rs782542152
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003200.5(TCF3):c.1081C>T (p.Gln361Ter)
NM_003200.5(TCF3):c.961C>T (p.Arg321Ter)
NM_003221.4(TFAP2B):c.276dup (p.Tyr93fs) rs2113929578
NM_003235.5(TG):c.4159+1G>A
NM_003238.6(TGFB2):c.356del (p.Pro119fs) rs863223797
NM_003238.6(TGFB2):c.635del (p.His212fs)
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003239.5(TGFB3):c.623_624del (p.Val208fs) rs2140245174
NM_003283.6(TNNT1):c.739C>T (p.Gln247Ter) rs1401047759
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) rs199476153
NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys) rs763272975
NM_003322.6(TULP1):c.1201C>T (p.Gln401Ter) rs1761021773
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003322.6(TULP1):c.629C>G (p.Ser210Ter) rs1761158425
NM_003324.5(TULP3):c.544del (p.Leu182fs) rs924744512
NM_003331.5(TYK2):c.2393G>A (p.Trp798Ter) rs2145184643
NM_003334.4(UBA1):c.121A>C (p.Met41Leu) rs1936307795
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) rs782416867
NM_003334.4(UBA1):c.1432G>T (p.Ala478Ser)
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_003470.3(USP7):c.1522C>T (p.Arg508Ter) rs2061841667
NM_003470.3(USP7):c.1749del (p.Met583fs)
NM_003477.3(PDHX):c.443del (p.Gly148fs)
NM_003482.4(KMT2D):c.13309_13319del (p.Gly4437fs)
NM_003482.4(KMT2D):c.13715del (p.Asn4572fs)
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.15953_15956del (p.Leu5318fs) rs398123732
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.3895del (p.Arg1299fs) rs1937806716
NM_003482.4(KMT2D):c.4406G>A (p.Trp1469Ter) rs1943798591
NM_003482.4(KMT2D):c.4843C>T (p.Arg1615Ter) rs1943714221
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.5753_5782+7delinsTCTTCA rs2120559513
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.6404T>A (p.Leu2135Ter) rs1943518455
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.721del (p.Leu241fs)
NM_003482.4(KMT2D):c.8027_8028del (p.Glu2676fs) rs1555191665
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003560.4(PLA2G6):c.1542G>A (p.Trp514Ter)
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln) rs776713955
NM_003560.4(PLA2G6):c.2251G>T (p.Glu751Ter) rs1296348337
NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter) rs775386225
NM_003560.4(PLA2G6):c.319del (p.Leu107fs) rs776376695
NM_003560.4(PLA2G6):c.755del (p.Asn252fs) rs587784361
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) rs199935023
NM_003590.5(CUL3):c.1894C>T (p.Gln632Ter)
NM_003590.5(CUL3):c.493_494del (p.Leu165fs) rs1553523940
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.1366C>T (p.Gln456Ter) rs746875019
NM_003611.3(OFD1):c.230T>C (p.Leu77Ser) rs1555900746
NM_003620.4(PPM1D):c.1270_1274dup (p.Asp425fs) rs2031551625
NM_003620.4(PPM1D):c.1275_1281del (p.Pro426fs) rs2031551741
NM_003620.4(PPM1D):c.1275del (p.Pro426fs)
NM_003640.5(ELP1):c.1269dup (p.Val424fs) rs2132013817
NM_003681.5(PDXK):c.465-15_489delinsGCA
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003718.5(CDK13):c.2227G>T (p.Glu743Ter) rs2116327525
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs) rs1064797270
NM_003742.4(ABCB11):c.2012-2A>G
NM_003745.2(SOCS1):c.24del (p.Ala9fs) rs2069587477
NM_003745.2(SOCS1):c.476_480dup (p.Met161fs) rs1470306246
NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs) rs779536510
NM_003801.4(GPAA1):c.1484G>A (p.Trp495Ter)
NM_003801.4(GPAA1):c.956_966delinsG (p.Leu319fs) rs2129944173
NM_003865.3(HESX1):c.325C>T (p.Arg109Ter) rs751011809
NM_003896.4(ST3GAL5):c.319-1G>C
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs) rs754643632
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) rs121908489
NM_003919.3(SGCE):c.663-1G>A rs1799588164
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter) rs398123812
NM_003919.3(SGCE):c.783del (p.Lys261fs)
NM_003919.3(SGCE):c.811_812del (p.Cys271fs)
NM_003919.3(SGCE):c.847del (p.Ser283fs)
NM_003919.3(SGCE):c.934_935del (p.Asp312fs)
NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter) rs1562159562
NM_003977.4(AIP):c.102_103insGTGC (p.Thr35fs)
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr) rs121908130
NM_003995.4(NPR2):c.601C>T (p.Gln201Ter)
NM_003998.4(NFKB1):c.407+1G>A rs1723945421
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.592G>A (p.Val198Met) rs2137307128
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter) rs398123827
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.3(DMD):c.10279C>T (p.Gln3427Ter) rs886042691
NM_004006.3(DMD):c.10454del (p.Leu3485fs) rs398123839
NM_004006.3(DMD):c.116dup (p.Asn39fs)
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.3276+1G>C rs398123934
NM_004006.3(DMD):c.3318_3319del (p.Asn1106fs)
NM_004006.3(DMD):c.3479dup (p.Ser1161fs)
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004006.3(DMD):c.4314_4315del (p.Arg1439fs) rs398123950
NM_004006.3(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.3(DMD):c.4675-1G>T rs2097921115
NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter) rs886042747
NM_004006.3(DMD):c.6889C>T (p.Gln2297Ter) rs2094827553
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter) rs398124050
NM_004006.3(DMD):c.9361+1G>T
NM_004006.3(DMD):c.9900_9901dup (p.Val3301fs)
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004036.5(ADCY3):c.3023_3024dup (p.Arg1009fs)
NM_004064.5(CDKN1B):c.320del (p.Gln107fs) rs755301027
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys) rs397514498
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu) rs67586389
NM_004082.5(DCTN1):c.221A>C (p.Gln74Pro) rs72466487
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004086.3(COCH):c.326T>A (p.Ile109Asn) rs121908930
NM_004100.5(EYA4):c.1118_1121del (p.Val373fs) rs1796355377
NM_004100.5(EYA4):c.1269dup (p.Asn424Ter)
NM_004100.5(EYA4):c.1834A>T (p.Lys612Ter) rs1800540581
NM_004115.4(FGF14):c.423del (p.Glu142fs)
NM_004115.4(FGF14):c.439G>T (p.Glu147Ter) rs865878627
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004130.4(GYG1):c.646C>T (p.Arg216Ter)
NM_004168.4(SDHA):c.447del (p.Val150fs) rs2126547751
NM_004168.4(SDHA):c.667del (p.Asp223fs) rs587782077
NM_004181.5(UCHL1):c.349_364del (p.Phe117fs) rs1781070341
NM_004183.4(BEST1):c.1120dup (p.Glu374fs) rs766357080
NM_004183.4(BEST1):c.11C>T (p.Thr4Ile) rs368383940
NM_004183.4(BEST1):c.1315C>T (p.Gln439Ter) rs1942169028
NM_004183.4(BEST1):c.703G>T (p.Val235Leu) rs281865245
NM_004183.4(BEST1):c.712del (p.Gln238fs) rs1555100476
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.779del (p.Pro260fs) rs778645644
NM_004183.4(BEST1):c.85T>C (p.Tyr29His) rs281865217
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del) rs121918283
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.2821del (p.Ser941fs)
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter) rs1556852362
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del) rs766667249
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004211.5(SLC6A5):c.861C>A (p.Tyr287Ter) rs1852607635
NM_004239.4(TRIP11):c.1942_1943del (p.Glu648fs)
NM_004247.4(EFTUD2):c.1150-1G>T rs2145478542
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
NM_004260.4(RECQL4):c.2415_2419dup (p.Arg807fs) rs1564794448
NM_004273.5(CHST3):c.533dup (p.Ala179fs) rs769540174
NM_004281.4(BAG3):c.447dup (p.Gln150fs)
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004312.3(ARR3):c.193G>T (p.Glu65Ter)
NM_004312.3(ARR3):c.767+1G>A
NM_004329.3(BMPR1A):c.1177G>T (p.Glu393Ter)
NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter) rs587782400
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup) rs727502902
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004341.5(CAD):c.98T>G (p.Met33Arg) rs751610198
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter) rs121964877
NM_004360.5(CDH1):c.1939C>T (p.Gln647Ter) rs778195664
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) rs756385625
NM_004369.4(COL6A3):c.5174A>C (p.His1725Pro) rs1574990526
NM_004369.4(COL6A3):c.6115C>T (p.Gln2039Ter) rs2077442468
NM_004369.4(COL6A3):c.6156+1G>A rs1553554298
NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val) rs886041329
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp) rs794727188
NM_004369.4(COL6A3):c.6309+1G>A rs886043919
NM_004370.6(COL12A1):c.1954del (p.Trp652fs) rs1769260264
NM_004371.4(COPA):c.718T>C (p.Trp240Arg) rs1659063174
NM_004380.3(CREBBP):c.2641C>T (p.Gln881Ter)
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs) rs2052611239
NM_004380.3(CREBBP):c.4393G>A (p.Gly1465Arg) rs2052127299
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu) rs1555473491
NM_004380.3(CREBBP):c.4621del (p.Glu1541fs) rs2151327825
NM_004380.3(CREBBP):c.5439C>G (p.Asn1813Lys) rs372253007
NM_004380.3(CREBBP):c.5599C>T (p.Arg1867Trp) rs398124148
NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp) rs886039491
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004397.6(DDX6):c.1187G>A (p.Arg396Gln) rs1860933779
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004415.2(DSP):c.2131_2132delAG rs587782927
NM_004415.4(DSP):c.2584_2585del (p.Gln862fs)
NM_004415.4(DSP):c.3186dup (p.Gln1063fs)
NM_004415.4(DSP):c.3861del (p.Lys1288fs)
NM_004415.4(DSP):c.4228_4229del (p.Lys1410fs)
NM_004415.4(DSP):c.4397dup (p.Gln1467fs) rs1581817513
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004429.5(EFNB1):c.196C>T (p.Arg66Ter) rs104894804
NM_004429.5(EFNB1):c.440del (p.Asn147fs)
NM_004431.5(EPHA2):c.2891del (p.Gly964fs) rs2024442390
NM_004448.4(ERBB2):c.929C>A (p.Ser310Tyr) rs1057519816
NM_004463.3(FGD1):c.139_140del (p.Gly47fs) rs1923506408
NM_004463.3(FGD1):c.419del (p.Pro140fs) rs2147436154
NM_004463.3(FGD1):c.46del (p.Glu16fs) rs1923512525
NM_004484.4(GPC3):c.706G>T (p.Gly236Ter) rs2071695360
NM_004519.4(KCNQ3):c.680G>A (p.Arg227Gln) rs1826712021
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004523.4(KIF11):c.1129-2A>G
NM_004523.4(KIF11):c.1177del (p.Arg393fs) rs1844616024
NM_004523.4(KIF11):c.2802C>G (p.Tyr934Ter) rs763384059
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
NM_004523.4(KIF11):c.463_475delinsATAGA (p.Ser155fs)
NM_004523.4(KIF11):c.631dup (p.Tyr211fs) rs2135902915
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs) rs80338754
NM_004530.6(MMP2):c.865C>T (p.Gln289Ter) rs1962317500
NM_004531.5(MOCS2):c.164C>G (p.Ser55Ter)
NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter) rs1308509155
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter) rs1440010564
NM_004586.3(RPS6KA3):c.262dup (p.Ile88fs) rs2148721928
NM_004586.3(RPS6KA3):c.610G>T (p.Glu204Ter)
NM_004595.5(SMS):c.335C>T (p.Pro112Leu) rs2147517480
NM_004614.5(TK2):c.125-1_127del
NM_004614.5(TK2):c.150dup (p.Ser51fs) rs281865504
NM_004628.5(XPC):c.1024del (p.Asp342fs) rs2125026627
NM_004628.5(XPC):c.128del (p.Pro43fs) rs1260189637
NM_004628.5(XPC):c.1440_1441insTCAGAGGACAAAGGAGGCAC (p.Lys481fs) rs1696021053
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.2216_2217del (p.Glu739fs) rs1559369237
NM_004628.5(XPC):c.2451_2461delinsT (p.Lys818fs) rs2125008340
NM_004628.5(XPC):c.342_343del (p.Ala116fs) rs1228981894
NM_004628.5(XPC):c.413-24A>G rs794729657
NM_004628.5(XPC):c.622-2A>G rs201940931
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1400del (p.Gly467fs) rs2131053777
NM_004629.2(FANCG):c.620del (p.Leu207fs) rs753727461
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_004643.4(PABPN1):c.20_34dup (p.Ala11_Gly12insAlaAlaAlaAlaAla) rs1888253108
NM_004643.4(PABPN1):c.23_24insGGCGGCAGC (p.Ala11_Gly12insAlaAlaAla) rs1888255467
NM_004643.4(PABPN1):c.3GGC[12] (p.Ala11_Gly12insAlaAlaAlaAlaAla) rs193922941
NM_004643.4(PABPN1):c.3GGC[9] (p.Ala11_Gly12insAlaAla) rs193922941
NM_004656.4(BAP1):c.1178del (p.Gln393fs)
NM_004656.4(BAP1):c.130dup (p.Tyr44fs)
NM_004656.4(BAP1):c.1311del (p.Ser438fs) rs2153226756
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter) rs1253151209
NM_004656.4(BAP1):c.1882_1885del (p.Ser628fs) rs1559585778
NM_004656.4(BAP1):c.458_459del (p.Pro153fs) rs1559590613
NM_004656.4(BAP1):c.993del (p.Lys331fs) rs1705111763
NM_004667.6(HERC2):c.637C>T (p.Arg213Ter) rs2075831472
NM_004698.4(PRPF3):c.1283-2A>G rs1572263399
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241
NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu) rs797044970
NM_004713.6(NEMF):c.1923_1924del (p.Asn642fs)
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_004722.4(AP4M1):c.228_231del (p.Phe77fs) rs2116628120
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) rs74315431
NM_004750.5(CRLF1):c.713del (p.Pro238fs)
NM_004782.4(SNAP29):c.365_368del (p.Tyr122fs) rs1176301490
NM_004820.5(CYP7B1):c.399_403del (p.Asp133fs) rs1805443015
NM_004820.5(CYP7B1):c.631_635del (p.Glu211fs) rs1805435464
NM_004826.4(ECEL1):c.1469G>A (p.Trp490Ter)
NM_004826.4(ECEL1):c.1506+1G>A rs1690636140
NM_004836.7(EIF2AK3):c.1762C>T (p.Arg588Ter)
NM_004859.4(CLTC):c.1423del (p.Ala475fs) rs2032665966
NM_004859.4(CLTC):c.2409T>G (p.Tyr803Ter) rs1197039101
NM_004859.4(CLTC):c.4180_4181del (p.Ile1394fs)
NM_004859.4(CLTC):c.4691_4692del (p.Glu1564fs) rs2143602282
NM_004863.4(SPTLC2):c.1148C>T (p.Ala383Val) rs1057519134
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_004946.3(DOCK2):c.1773dup (p.Leu592fs)
NM_004947.5(DOCK3):c.152_158dup (p.Gly55fs) rs2107262663
NM_004947.5(DOCK3):c.214del (p.Arg72fs) rs2107729763
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys) rs587777900
NM_004960.4(FUS):c.1554_1557del (p.Gln519fs) rs2144142389
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly) rs121909668
NM_004960.4(FUS):c.1562G>A (p.Arg521His) rs121909671
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu) rs886041390
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.894G>T (p.Leu298Phe) rs876657390
NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter) rs1984251749
NM_004975.4(KCNB1):c.1133T>C (p.Val378Ala) rs1984250089
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His) rs104894699
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_004984.4(KIF5A):c.1378C>T (p.Arg460Ter) rs1882272161
NM_004984.4(KIF5A):c.1858G>T (p.Glu620Ter) rs2140167500
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) rs1555177629
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) rs387907285
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.33_34delinsCT (p.Gly12Cys) rs2135806256
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) rs121913530
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_004998.4(MYO1E):c.2627+1G>T
NM_004999.4(MYO6):c.1859T>A (p.Leu620Ter) rs2149312917
NM_004999.4(MYO6):c.856G>T (p.Glu286Ter)
NM_005006.7(NDUFS1):c.1255C>T (p.Arg419Ter)
NM_005006.7(NDUFS1):c.699_700del (p.Lys234fs) rs1553506655
NM_005026.5(PIK3CD):c.3046C>T (p.Arg1016Ter) rs1649753771
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005029.4(PITX3):c.640_656dup (p.Gly220fs) rs1411557416
NM_005032.7(PLS3):c.748+1G>A
NM_005032.7(PLS3):c.766C>T (p.Arg256Ter) rs2147558436
NM_005045.4(RELN):c.510del (p.Asp171fs)
NM_005052.3(RAC3):c.184G>A (p.Glu62Lys) rs1064797229
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs) rs1555142142
NM_005055.5(RAPSN):c.149_153delinsAGATGGGCCGCTACAAGGAGATGG (p.Val50fs) rs1131691986
NM_005094.4(SLC27A4):c.1211_1215del (p.Gly404fs) rs1832767186
NM_005094.4(SLC27A4):c.1447C>T (p.Gln483Ter) rs1340721389
NM_005097.4(LGI1):c.494T>A (p.Leu165Ter) rs1589771134
NM_005097.4(LGI1):c.606_607delinsA (p.Pro204fs) rs2134020912
NM_005120.3(MED12):c.5808C>G (p.Tyr1936Ter)
NM_005142.3(CBLIF):c.346C>T (p.Gln116Ter) rs796064508
NM_005149.3(TBX19):c.782del (p.Asn261fs) rs730880274
NM_005186.4(CAPN1):c.1567G>T (p.Glu523Ter)
NM_005186.4(CAPN1):c.415C>T (p.Gln139Ter)
NM_005186.4(CAPN1):c.894G>A (p.Trp298Ter)
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.4(CBL):c.1221_1227+20del
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) rs606231422
NM_005214.5(CTLA4):c.374dup (p.Leu126fs) rs1688717281
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) rs1581573923
NM_005214.5(CTLA4):c.487del (p.Leu163fs) rs1688730155
NM_005215.4(DCC):c.2205_2207delinsATGAT (p.Pro736Ter)
NM_005215.4(DCC):c.3230-1G>A rs2045395357
NM_005215.4(DCC):c.823C>T (p.Arg275Ter) rs754914260
NM_005215.4(DCC):c.965_966dup (p.Ala323fs)
NM_005219.5(DIAPH1):c.2108dup (p.Pro704fs) rs771360300
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) rs876657776
NM_005228.5(EGFR):c.2236_2250del (p.Glu746_Ala750del) rs727504233
NM_005236.3(ERCC4):c.1315del (p.Thr439fs)
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
NM_005249.5(FOXG1):c.1170C>A (p.Cys390Ter) rs1392520466
NM_005249.5(FOXG1):c.1366_1375del (p.Arg457fs)
NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter) rs1555321237
NM_005249.5(FOXG1):c.256dup (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.85C>T (p.Gln29Ter)
NM_005251.3(FOXC2):c.558del (p.Pro188fs)
NM_005251.3(FOXC2):c.902_920del (p.Leu301fs) rs2144020025
NM_005251.3(FOXC2):c.912dup (p.Tyr305fs) rs1974228323
NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser) rs28936381
NM_005267.5(GJA8):c.829C>T (p.His277Tyr) rs1651940183
NM_005269.3(GLI1):c.1361del (p.Pro454fs)
NM_005271.5(GLUD1):c.944A>G (p.His315Arg)
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737
NM_005321.3(H1-4):c.433dup (p.Ala145fs) rs1554162872
NM_005321.3(H1-4):c.435dup (p.Thr146fs) rs1764194669
NM_005321.3(H1-4):c.454_455insT (p.Lys152fs) rs1554162894
NM_005327.7(HADH):c.617del (p.Lys206fs) rs1735963864
NM_005334.3(HCFC1):c.6046C>T (p.Arg2016Trp) rs2148554043
NM_005340.7(HINT1):c.100G>T (p.Glu34Ter) rs1755365079
NM_005340.7(HINT1):c.151_152del (p.His51fs) rs1755286581
NM_005340.7(HINT1):c.266G>T (p.Gly89Val) rs397514490
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter) rs1028404937
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) rs121912581
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005378.6(MYCN):c.1094dup (p.Ala367fs) rs1662852731
NM_005378.6(MYCN):c.1117C>T (p.Arg373Ter) rs754137452
NM_005400.3(PRKCE):c.1795G>A (p.Glu599Lys) rs1553363925
NM_005413.4(SIX3):c.406_407dup (p.Val137fs) rs753473749
NM_005419.4(STAT2):c.1045_1046insCA (p.Arg349fs) rs1878353719
NM_005419.4(STAT2):c.948del (p.Phe316fs) rs1878411313
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005465.7(AKT3):c.803T>C (p.Val268Ala) rs1674673024
NM_005476.7(GNE):c.1085G>A (p.Gly362Glu) rs755188930
NM_005476.7(GNE):c.1417del (p.Ser473fs) rs1057516965
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del) rs762796465
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs) rs1436850036
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.5A>G (p.Glu2Gly) rs1830025657
NM_005476.7(GNE):c.961del (p.Arg321fs) rs1829284063
NM_005502.4(ABCA1):c.1881C>G (p.Tyr627Ter) rs376462722
NM_005529.7(HSPG2):c.12393T>A (p.Cys4131Ter)
NM_005529.7(HSPG2):c.3892C>T (p.Gln1298Ter)
NM_005546.4(ITK):c.1684C>T (p.Arg562Ter) rs1207540324
NM_005546.4(ITK):c.929_930delinsT (p.Lys310fs)
NM_005546.4(ITK):c.929del (p.Lys310fs)
NM_005559.4(LAMA1):c.2935del (p.Arg979fs) rs758601967
NM_005559.4(LAMA1):c.4676del (p.Glu1559fs) rs2057789980
NM_005559.4(LAMA1):c.768+1G>A rs769174266
NM_005562.3(LAMC2):c.3365T>G (p.Leu1122Ter) rs1660173338
NM_005585.5(SMAD6):c.1084C>T (p.Gln362Ter) rs1894556452
NM_005585.5(SMAD6):c.387_388del (p.Ser130fs) rs2140581496
NM_005585.5(SMAD6):c.840dup (p.Arg281fs)
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) rs774277300
NM_005591.4(MRE11):c.1927-2A>G rs587781822
NM_005591.4(MRE11):c.1994+2T>A
NM_005609.4(PYGM):c.1722T>A (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.632del (p.Ser211fs) rs759015176
NM_005618.4(DLL1):c.1525C>T (p.Arg509Ter) rs1583152162
NM_005618.4(DLL1):c.1762G>T (p.Glu588Ter)
NM_005618.4(DLL1):c.1775del (p.Asn592fs)
NM_005618.4(DLL1):c.577dup (p.Arg193fs)
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1536del (p.Tyr513fs)
NM_005629.4(SLC6A8):c.267_268del (p.Phe90fs) rs2091448566
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) rs1603215223
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr) rs727504295
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005654.6(NR2F1):c.427_429delinsTT (p.Lys144fs) rs2149941660
NM_005660.3(SLC35A2):c.844G>A (p.Gly282Arg) rs2063478987
NM_005670.4(EPM2A):c.269_275del (p.Lys90fs) rs1776788274
NM_005676.5(RBM10):c.292C>T (p.Arg98Ter) rs1556772860
NM_005677.4(COLQ):c.283C>T (p.Gln95Ter) rs1302783957
NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter) rs869312183
NM_005807.6(PRG4):c.2998_3001del (p.Lys1000fs) rs778569928
NM_005807.6(PRG4):c.3560_3561del (p.Glu1187fs)
NM_005807.6(PRG4):c.3848del (p.Gly1283fs) rs2102038969
NM_005850.5(SF3B4):c.577C>T (p.Arg193Ter) rs2092591029
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005859.5(PURA):c.159dup (p.Leu54fs) rs1554129040
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.716del (p.Lys239fs) rs1763053819
NM_005859.5(PURA):c.9_12dup (p.Asp5fs) rs1763034422
NM_005861.4(STUB1):c.384_387dup (p.Asn130fs)
NM_005861.4(STUB1):c.440G>A (p.Trp147Ter) rs2151504570
NM_005861.4(STUB1):c.737C>T (p.Thr246Met) rs587777343
NM_005876.5(SPEG):c.6898_6905del (p.Pro2300fs)
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005902.4(SMAD3):c.1102C>T (p.Arg368Ter) rs757106110
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter) rs1580026238
NM_005909.5(MAP1B):c.6418C>T (p.Arg2140Ter)
NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter) rs1554054831
NM_005957.5(MTHFR):c.1500G>A (p.Trp500Ter) rs116620395
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) rs80356459
NM_005993.5(TBCD):c.3145dup (p.His1049fs) rs2062306727
NM_006005.3(WFS1):c.1362_1377del (p.Pro453_Tyr454insTer) rs1730884546
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del) rs777904670
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006005.3(WFS1):c.861+2T>C rs1730600472
NM_006005.3(WFS1):c.940T>C (p.Trp314Arg) rs2109125046
NM_006005.3(WFS1):c.968A>G (p.His323Arg) rs1057368575
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His) rs137853044
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys) rs1942168488
NM_006015.6(ARID1A):c.148_149delinsTA (p.Met50Ter) rs2124740433
NM_006015.6(ARID1A):c.1642C>T (p.Gln548Ter) rs2124789497
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.1628_1629del (p.Ser543fs) rs1295259849
NM_006017.3(PROM1):c.1697dup (p.Asn566fs) rs762078182
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) rs530749007
NM_006017.3(PROM1):c.2211+1G>A rs1719285721
NM_006017.3(PROM1):c.2414dup (p.Leu805fs) rs1717541693
NM_006031.6(PCNT):c.6214C>T (p.Gln2072Ter)
NM_006060.6(IKZF1):c.484C>T (p.Arg162Trp) rs1584925614
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006086.4(TUBB3):c.613G>A (p.Glu205Lys) rs878853257
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu) rs886041459
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr) rs267607163
NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile) rs797045074
NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His) rs886041021
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter) rs1572018284
NM_006121.4(KRT1):c.559C>T (p.Leu187Phe) rs59151464
NM_006121.4(KRT1):c.591+1G>C rs267607422
NM_006147.4(IRF6):c.1128_1129del (p.Glu377fs) rs2077857607
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006204.4(PDE6C):c.2445del (p.Ala816fs) rs2133879710
NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter) rs121918023
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1340_1366del (p.Pro447_Leu455del)
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006231.4(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs) rs758487568
NM_006236.3(POU3F3):c.1085G>T (p.Arg362Leu) rs1158292126
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006268.5(DPF2):c.1048C>T (p.Arg350Cys)
NM_006269.2(RP1):c.1012C>T (p.Arg338Ter) rs1805984836
NM_006269.2(RP1):c.2296C>T (p.Gln766Ter) rs775731489
NM_006269.2(RP1):c.2332A>T (p.Lys778Ter) rs1806041389
NM_006269.2(RP1):c.2574del (p.Val859fs)
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.270del (p.His90fs) rs1805854701
NM_006269.2(RP1):c.2766del (p.Asn922fs) rs1806061474
NM_006269.2(RP1):c.3157del (p.Tyr1053fs) rs748709396
NM_006269.2(RP1):c.4094del (p.Gly1365fs) rs1806120012
NM_006269.2(RP1):c.4587_4590del (p.Ser1529fs) rs766674210
NM_006303.4(AIMP2):c.658_659del (p.Leu220fs) rs760123492
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter) rs1556890135
NM_006306.4(SMC1A):c.1692dup (p.Gly565fs) rs2146600016
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.4(SMC1A):c.2482_2489del (p.Leu828fs)
NM_006306.4(SMC1A):c.52_53del (p.Arg18fs) rs1602418853
NM_006343.3(MERTK):c.1144+1G>A rs2104733978
NM_006343.3(MERTK):c.2179C>T (p.Arg727Ter) rs746238212
NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys) rs746291728
NM_006343.3(MERTK):c.505_508del (p.Asp169fs)
NM_006363.6(SEC23B):c.221+2T>C
NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter)
NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs) rs1693228350
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) rs119482082
NM_006420.3(ARFGEF2):c.1308_1309dup (p.Cys437fs)
NM_006420.3(ARFGEF2):c.1959_1966del (p.Phe654fs) rs2123451347
NM_006421.5(ARFGEF1):c.3289+1G>A
NM_006421.5(ARFGEF1):c.4831_4832del (p.Gln1611fs)
NM_006445.4(PRPF8):c.6974_6994del (p.Val2325_Glu2331del) rs1910994325
NM_006493.4(CLN5):c.-97del rs765323914
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006494.4(ERF):c.256C>T (p.Arg86Cys) rs587777008
NM_006516.4(SLC2A1):c.1104_1105dup (p.Ile369fs)
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.365del (p.Leu122fs) rs2124450330
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.410_411del (p.Thr137fs) rs1570593487
NM_006516.4(SLC2A1):c.418G>A (p.Val140Met) rs1057517822
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His) rs794727642
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter) rs1413339367
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys) rs387907312
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.680-11G>A rs1259158687
NM_006516.4(SLC2A1):c.742_743del (p.Arg249fs)
NM_006516.4(SLC2A1):c.857G>A (p.Gly286Asp) rs864309514
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu) rs796053253
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_006521.6(TFE3):c.350G>A (p.Arg117Gln) rs2147777346
NM_006545.5(NPRL2):c.943C>T (p.Gln315Ter) rs1703612751
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys) rs1555535156
NM_006565.4(CTCF):c.1130G>A (p.Arg377His) rs968244943
NM_006565.4(CTCF):c.1343G>A (p.Arg448Gln) rs2142849782
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser) rs746746116
NM_006593.4(TBR1):c.967C>T (p.Gln323Ter)
NM_006612.6(KIF1C):c.305G>C (p.Gly102Ala) rs1974586605
NM_006618.5(KDM5B):c.1354G>T (p.Glu452Ter)
NM_006618.5(KDM5B):c.1454del (p.Pro485fs)
NM_006618.5(KDM5B):c.2198+1G>C rs1558488588
NM_006618.5(KDM5B):c.2377_2380del (p.Asp793fs)
NM_006662.3(SRCAP):c.5691_5695del (p.Ser1898fs)
NM_006662.3(SRCAP):c.6709C>T (p.Gln2237Ter) rs2053142075
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006734.4(HIVEP2):c.2289_2296dup (p.Gln766fs)
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) rs869312841
NM_006734.4(HIVEP2):c.5798C>G (p.Ser1933Ter)
NM_006757.4(TNNT3):c.188G>A (p.Arg63His) rs121434638
NM_006766.5(KAT6A):c.1302_1303del (p.Glu435fs)
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter) rs786200961
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006767.4(LZTR1):c.1075A>T (p.Lys359Ter)
NM_006767.4(LZTR1):c.1281C>A (p.Cys427Ter)
NM_006767.4(LZTR1):c.1357G>T (p.Glu453Ter)
NM_006767.4(LZTR1):c.1468_1471del (p.Ala490fs)
NM_006767.4(LZTR1):c.1786-2A>G rs2147968271
NM_006767.4(LZTR1):c.1807del (p.Val602_Val603insTer)
NM_006767.4(LZTR1):c.1886_1887del (p.Val629fs) rs1924776523
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.27dup (p.Gln10fs) rs587777613
NM_006772.3(SYNGAP1):c.1144G>T (p.Gly382Ter) rs1760897843
NM_006772.3(SYNGAP1):c.1160dup (p.Gly388fs)
NM_006772.3(SYNGAP1):c.1243G>T (p.Glu415Ter) rs1554121273
NM_006772.3(SYNGAP1):c.1303_1304dup (p.Leu435fs) rs1760906699
NM_006772.3(SYNGAP1):c.14_27dup (p.Arg10fs)
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.2230C>T (p.Gln744Ter) rs1554121947
NM_006772.3(SYNGAP1):c.2323C>T (p.Arg775Ter) rs1554122080
NM_006772.3(SYNGAP1):c.2755C>T (p.Gln919Ter) rs1554122242
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.467_479del (p.Phe156fs)
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.509+1G>A rs1561781989
NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs) rs2151168473
NM_006785.4(MALT1):c.1651C>T (p.Arg551Ter)
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.753-1G>C
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006846.4(SPINK5):c.153del (p.Gln52fs) rs1752706120
NM_006846.4(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.4(SPINK5):c.238dup (p.Ala80fs) rs752179828
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.4(SPINK5):c.691del (p.Gln231fs) rs1753397877
NM_006852.6(TLK2):c.1052dup (p.Gln352fs) rs2146616137
NM_006852.6(TLK2):c.1726dup (p.Ile576fs)
NM_006852.6(TLK2):c.364C>T (p.Arg122Ter) rs1567870541
NM_006852.6(TLK2):c.784C>T (p.Arg262Ter) rs1567920209
NM_006907.4(PYCR1):c.349G>T (p.Val117Phe) rs1356658811
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006914.4(RORB):c.1114C>T (p.Arg372Ter) rs2118545746
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_006915.3(RP2):c.299dup (p.Phe101fs) rs1924900389
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_006915.3(RP2):c.529_533del (p.Phe177fs) rs1924907742
NM_006922.4(SCN3A):c.740T>C (p.Leu247Pro) rs1689488709
NM_006929.5(SKIC2):c.2350C>T (p.Gln784Ter)
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006940.6(SOX5):c.1164+2T>G rs2074971229
NM_006940.6(SOX5):c.1697G>A (p.Trp566Ter)
NM_006940.6(SOX5):c.519G>A (p.Trp173Ter) rs2094344935
NM_006940.6(SOX5):c.700C>T (p.Gln234Ter)
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) rs1932477493
NM_006946.4(SPTBN2):c.158-1G>T
NM_006946.4(SPTBN2):c.3301G>T (p.Glu1101Ter)
NM_006946.4(SPTBN2):c.6722+1G>T
NM_006950.3(SYN1):c.691C>T (p.Gln231Ter)
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.2561del (p.Gly854fs)
NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln) rs587777148
NM_007103.4(NDUFV1):c.611A>G (p.Tyr204Cys) rs1424452972
NM_007118.4(TRIO):c.4746G>A (p.Trp1582Ter) rs1748663758
NM_007126.5(VCP):c.277C>T (p.Arg93Cys) rs1554669087
NM_007126.5(VCP):c.283C>T (p.Arg95Cys) rs121909332
NM_007126.5(VCP):c.463C>T (p.Arg155Cys) rs121909330
NM_007126.5(VCP):c.469G>C (p.Gly157Arg) rs1554668814
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_007126.5(VCP):c.695C>A (p.Ala232Glu) rs121909331
NM_007129.5(ZIC2):c.106C>T (p.Gln36Ter)
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs) rs2052563898
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter) rs2054312626
NM_007194.4(CHEK2):c.410_413del (p.Arg137fs)
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs) rs756131136
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer) rs772683219
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter) rs1057517786
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1295_1298+3del
NM_007254.4(PNKP):c.1386+49_1387-33del rs752902474
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007289.4(MME):c.1564C>T (p.Gln522Ter) rs1553765316
NM_007289.4(MME):c.1579C>T (p.Arg527Ter) rs781376762
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.4(BRCA1):c.1252G>T (p.Glu418Ter) rs80357083
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer) rs80357969
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs) rs1555591850
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.4(BRCA1):c.1728dup (p.Glu577fs) rs397507192
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2017G>T (p.Glu673Ter) rs80357391
NM_007294.4(BRCA1):c.2077_2078insTA (p.Asp693fs) rs80357595
NM_007294.4(BRCA1):c.2188dup (p.Glu730fs) rs80357566
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter) rs41286296
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.2481del (p.Gly828fs) rs886040042
NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter) rs397508983
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter) rs878853292
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.4(BRCA1):c.3354_3355del (p.Gln1118fs) rs397509059
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter) rs80357310
NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter) rs80357356
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.404_408del (p.Lys135fs)
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.4356del (p.Ala1453fs) rs1567782959
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) rs273900730
NM_007294.4(BRCA1):c.4392del (p.Pro1464_Ile1465insTer) rs1064793577
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4791del (p.Ser1598fs) rs2052407546
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter) rs80356896
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5193+1G>T rs80358004
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala) rs80357149
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.80+1G>A rs80358010
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.838dup (p.Ala280fs) rs2054038332
NM_007294.4(BRCA1):c.952_1015del (p.His318fs) rs80359872
NM_007294.4(BRCA1):c.958A>T (p.Arg320Ter) rs1131692065
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_007315.4(STAT1):c.1389G>T (p.Gln463His) rs137852679
NM_007315.4(STAT1):c.1973A>G (p.Asn658Ser)
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln) rs387906760
NM_007315.4(STAT1):c.863C>T (p.Thr288Ile) rs1693751220
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.1975C>T (p.Arg659Trp) rs1064797355
NM_007327.4(GRIN1):c.2479G>A (p.Gly827Arg) rs1451230055
NM_007347.5(AP4E1):c.2659del (p.His887fs) rs2140934862
NM_007348.4(ATF6):c.82+5G>T rs797045170
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) rs80356726
NM_012154.5(AGO2):c.1070C>T (p.Thr357Met) rs2073092496
NM_012193.4(FZD4):c.1322C>G (p.Ser441Ter) rs779827851
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) rs80358303
NM_012193.4(FZD4):c.542G>A (p.Cys181Tyr) rs1949300253
NM_012210.4(TRIM32):c.1161_1168dup (p.Arg390fs) rs1861028831
NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter) rs1573585099
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012250.6(RRAS2):c.68G>A (p.Gly23Asp) rs1591495779
NM_012330.4(KAT6B):c.2023G>T (p.Glu675Ter)
NM_012330.4(KAT6B):c.3217G>T (p.Glu1073Ter) rs761860621
NM_012388.4(BLOC1S6):c.318_320delinsAT (p.Glu107fs) rs2140918945
NM_012398.3(PIP5K1C):c.688_689del (p.Gly230fs) rs764308612
NM_012448.4(STAT5B):c.1924A>C (p.Asn642His) rs938448224
NM_012448.4(STAT5B):c.2135_2139dup (p.Ala714Ter)
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) rs121908379
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter) rs104894650
NM_012472.6(DNAAF11):c.1168C>T (p.Arg390Ter) rs1815582943
NM_012479.4(YWHAG):c.398A>G (p.Tyr133Cys) rs1554616627
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013254.4(TBK1):c.2138+2T>C rs876657406
NM_013275.6(ANKRD11):c.1355del (p.Asn452fs) rs1597465118
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter) rs900492387
NM_013275.6(ANKRD11):c.1401del (p.Arg468fs) rs2034558502
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.1976dup (p.Tyr659Ter) rs2034511189
NM_013275.6(ANKRD11):c.1977C>A (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter) rs1597461100
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2413G>T (p.Glu805Ter) rs747437062
NM_013275.6(ANKRD11):c.2512C>T (p.Arg838Ter) rs2034471125
NM_013275.6(ANKRD11):c.2635G>T (p.Glu879Ter)
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter) rs752918694
NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs) rs1064794330
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs) rs772267579
NM_013275.6(ANKRD11):c.3591_3594del (p.Lys1198fs) rs2151754276
NM_013275.6(ANKRD11):c.3768_3769del (p.His1256fs) rs2034368063
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.4349_4352del (p.Ser1450fs)
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs) rs886041521
NM_013275.6(ANKRD11):c.4634dup (p.Val1546fs) rs2034281644
NM_013275.6(ANKRD11):c.5375_5376del (p.Ser1792fs) rs2034201742
NM_013275.6(ANKRD11):c.5675del (p.Pro1892fs)
NM_013275.6(ANKRD11):c.5777dup (p.Glu1927fs) rs1597443966
NM_013275.6(ANKRD11):c.641dup (p.Tyr214Ter) rs2151783840
NM_013275.6(ANKRD11):c.6589dup (p.Thr2197fs)
NM_013275.6(ANKRD11):c.6807_6808del (p.Ala2270fs) rs1597435393
NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs) rs1555525296
NM_013275.6(ANKRD11):c.7636dup (p.Ala2546fs) rs2151701696
NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter) rs761636251
NM_013382.7(POMT2):c.1117-1G>C
NM_013382.7(POMT2):c.1312C>T (p.Gln438Ter) rs995812794
NM_013435.3(RAX):c.499G>T (p.Glu167Ter)
NM_014009.4(FOXP3):c.1040G>A (p.Arg347His) rs1557115786
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln) rs1057520529
NM_014009.4(FOXP3):c.751_753del (p.Glu251del) rs122467171
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.2066A>G (p.Tyr689Cys) rs556400279
NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr) rs2063883437
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014053.4(FLVCR1):c.755del (p.Gly252fs) rs773064101
NM_014112.5(TRPS1):c.1163C>G (p.Ser388Ter) rs2130494014
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.2096+2T>G
NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter) rs1156330285
NM_014112.5(TRPS1):c.2701-1G>A
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val) rs121908436
NM_014112.5(TRPS1):c.537dup (p.Ala180fs)
NM_014208.3(DSPP):c.1870_1873del (p.Ser624fs) rs2109996574
NM_014249.4(NR2E3):c.328C>T (p.Gln110Ter) rs2054184757
NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter) rs1257334132
NM_014249.4(NR2E3):c.994G>C (p.Glu332Gln) rs2054205040
NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter) rs540149539
NM_014252.4(SLC25A15):c.98_101del (p.Met33fs)
NM_014254.3(RXYLT1):c.139del (p.Ala47fs) rs397514696
NM_014270.5(SLC7A9):c.611_612del (p.Thr204fs) rs1968819398
NM_014270.5(SLC7A9):c.857C>T (p.Ser286Phe) rs755135545
NM_014319.5(LEMD3):c.1776-2A>C
NM_014336.5(AIPL1):c.50T>C (p.Leu17Pro) rs773387922
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.12981_12984del (p.Ile4328fs) rs1883423972
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.589_592del (p.Val197fs)
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
NM_014425.5(INVS):c.1417del (p.Ala473fs) rs878855332
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014491.4(FOXP2):c.604C>T (p.Gln202Ter) rs1804922106
NM_014491.4(FOXP2):c.775+1G>A
NM_014516.4(CNOT3):c.1373del (p.Pro458fs) rs1213228037
NM_014516.4(CNOT3):c.1941dup (p.Tyr648fs)
NM_014516.4(CNOT3):c.766C>T (p.Gln256Ter)
NM_014639.4(SKIC3):c.3850_3854del (p.Asp1284fs)
NM_014639.4(SKIC3):c.85del (p.Cys29fs)
NM_014714.4(IFT140):c.3141+1G>T rs764770536
NM_014727.3(KMT2B):c.12_24dup (p.Ser9fs) rs1555727493
NM_014727.3(KMT2B):c.521dup (p.Thr176fs) rs763183959
NM_014727.3(KMT2B):c.5230_5233del (p.Ser1744fs) rs2146462970
NM_014795.4(ZEB2):c.1408dup (p.Thr470fs)
NM_014795.4(ZEB2):c.1630dup (p.Thr544fs) rs1703279692
NM_014795.4(ZEB2):c.2417_2432del (p.Phe806fs)
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_014795.4(ZEB2):c.3218A>G (p.His1073Arg) rs1703133873
NM_014795.4(ZEB2):c.498C>A (p.Tyr166Ter) rs2149879695
NM_014845.6(FIG4):c.1263T>A (p.Tyr421Ter)
NM_014845.6(FIG4):c.718del (p.Ser240fs) rs1776224762
NM_014845.6(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014874.4(MFN2):c.1082A>G (p.His361Arg) rs1064793170
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter) rs863224968
NM_014874.4(MFN2):c.280C>G (p.Arg94Gly) rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.4(MFN2):c.314C>T (p.Thr105Met) rs863224069
NM_014874.4(MFN2):c.692C>T (p.Ser231Phe) rs1569842714
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014874.4(MFN2):c.922G>T (p.Glu308Ter) rs1553143852
NM_014875.3(KIF14):c.521_522del (p.Phe174fs)
NM_014915.3(ANKRD26):c.-116C>T rs1589393739
NM_014915.3(ANKRD26):c.-134G>A rs863223318
NM_014927.5(CNKSR2):c.1280del (p.Arg427fs) rs2091890720
NM_014927.5(CNKSR2):c.2026_2027del (p.Arg676fs) rs1602013845
NM_014946.4(SPAST):c.1039C>T (p.Gln347Ter) rs1553315329
NM_014946.4(SPAST):c.1082C>T (p.Pro361Leu) rs1553315352
NM_014946.4(SPAST):c.1104C>G (p.Phe368Leu) rs370845582
NM_014946.4(SPAST):c.1215_1219del (p.Asn405fs) rs1553317032
NM_014946.4(SPAST):c.1238del (p.Thr412_Ser413insTer)
NM_014946.4(SPAST):c.1253_1255del (p.Glu418del) rs1558336544
NM_014946.4(SPAST):c.1262_1263del (p.Lys421fs) rs1679543364
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.4(SPAST):c.1322-1G>C
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1382T>C (p.Leu461Pro) rs1553318242
NM_014946.4(SPAST):c.1413+1G>A rs1553318276
NM_014946.4(SPAST):c.1413+2T>C
NM_014946.4(SPAST):c.1493+1G>T rs1553318351
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.4(SPAST):c.1536+1G>C rs1553319095
NM_014946.4(SPAST):c.1540A>G (p.Arg514Gly) rs1553319286
NM_014946.4(SPAST):c.1577_1580del (p.Gly526fs) rs1553319298
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_014946.4(SPAST):c.1688-2A>G rs587777752
NM_014946.4(SPAST):c.238C>T (p.Gln80Ter) rs1676403099
NM_014946.4(SPAST):c.444G>A (p.Trp148Ter) rs1553399493
NM_014946.4(SPAST):c.59_61delinsA (p.Val20fs)
NM_014946.4(SPAST):c.683-1G>C rs1553314868
NM_014946.4(SPAST):c.716T>G (p.Leu239Ter) rs1553314880
NM_014946.4(SPAST):c.746C>G (p.Ser249Ter) rs1553314902
NM_014946.4(SPAST):c.806dup (p.Tyr269Ter)
NM_014946.4(SPAST):c.870+3A>G rs1553314979
NM_014946.4(SPAST):c.870G>C (p.Lys290Asn)
NM_015001.3(SPEN):c.3541C>T (p.Gln1181Ter)
NM_015001.3(SPEN):c.8819_8820del (p.Pro2940fs)
NM_015021.3(ZNF292):c.5759_5769del (p.Phe1920fs) rs2127870346
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) rs745775419
NM_015046.7(SETX):c.5243dup (p.Leu1750fs) rs754706851
NM_015065.3(EXPH5):c.299del (p.Thr100fs)
NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter) rs1400806789
NM_015072.5(TTLL5):c.630C>A (p.Tyr210Ter) rs745934202
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.2742_2743dup (p.Ala915fs) rs2102149671
NM_015100.4(POGZ):c.3041del (p.Gln1014fs) rs796052217
NM_015100.4(POGZ):c.3046dup (p.Glu1016fs)
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015100.4(POGZ):c.366del (p.Gln123fs)
NM_015100.4(POGZ):c.771del (p.Thr258fs)
NM_015102.5(NPHP4):c.3506del (p.Pro1169fs) rs775221217
NM_015154.3(MESD):c.80dup (p.Pro28fs)
NM_015166.4(MLC1):c.111_112dup (p.Gln38fs) rs2062239718
NM_015178.3(RHOBTB2):c.1113dup (p.Arg372fs)
NM_015178.3(RHOBTB2):c.1465C>G (p.Arg489Gly) rs1554504681
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) rs1554504684
NM_015192.4(PLCB1):c.2443C>T (p.Arg815Ter)
NM_015202.5(KATNIP):c.27dup (p.Glu10fs) rs1283389193
NM_015202.5(KATNIP):c.4240del (p.Tyr1414fs) rs2144229673
NM_015213.4(DENND5A):c.612dup (p.Lys205Ter)
NM_015215.4(CAMTA1):c.1156del (p.Val386fs) rs2149156374
NM_015215.4(CAMTA1):c.3931C>T (p.Gln1311Ter) rs2096785311
NM_015215.4(CAMTA1):c.4813C>T (p.Arg1605Ter) rs2096895734
NM_015335.5(MED13L):c.1420G>T (p.Glu474Ter) rs1879225327
NM_015335.5(MED13L):c.2584C>T (p.Gln862Ter)
NM_015335.5(MED13L):c.3961C>T (p.Gln1321Ter)
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.5(MED13L):c.6164del (p.Pro2055fs)
NM_015335.5(MED13L):c.6367C>T (p.Gln2123Ter) rs1876139497
NM_015335.5(MED13L):c.6388-2A>G rs1592891007
NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137
NM_015338.6(ASXL1):c.1848_1849insTA (p.Ile617Ter)
NM_015354.3(NUP188):c.124C>T (p.Arg42Ter)
NM_015443.4(KANSL1):c.1288_1289del (p.Leu430fs) rs2046246646
NM_015443.4(KANSL1):c.1629del (p.Arg543fs)
NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter) rs142096969
NM_015443.4(KANSL1):c.779del (p.Gly260fs) rs748018297
NM_015465.5(GEMIN5):c.1045A>T (p.Lys349Ter)
NM_015474.4(SAMHD1):c.626-1G>C rs2146127849
NM_015474.4(SAMHD1):c.853-2A>G
NM_015488.5(PNKD):c.26C>T (p.Ala9Val) rs121434511
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys) rs1002571805
NM_015559.3(SETBP1):c.2334_2515del (p.Leu779fs)
NM_015570.4(AUTS2):c.1904_1907dup (p.Pro638fs) rs2129558874
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter) rs1342475527
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_015629.4(PRPF31):c.1074-2A>T rs1314226094
NM_015629.4(PRPF31):c.1110_1117dup (p.Lys373fs) rs1600356790
NM_015629.4(PRPF31):c.1126_1129dup (p.Arg377fs) rs2146445865
NM_015629.4(PRPF31):c.1374+654C>G rs587776591
NM_015629.4(PRPF31):c.217A>T (p.Lys73Ter) rs2073709795
NM_015629.4(PRPF31):c.322+4_322+7del rs2073801044
NM_015629.4(PRPF31):c.466C>T (p.Gln156Ter) rs2073842959
NM_015629.4(PRPF31):c.528-1G>A rs2146420442
NM_015629.4(PRPF31):c.698-1G>A rs2073871791
NM_015629.4(PRPF31):c.81_84del (p.Glu28fs) rs2073701678
NM_015629.4(PRPF31):c.946-1G>C rs2073961882
NM_015665.6(AAAS):c.1389del (p.Phe464fs) rs2121080959
NM_015702.3(MMADHC):c.303dup (p.Val102fs) rs1682764315
NM_015909.4(NBAS):c.2512dup (p.Thr838fs)
NM_015909.4(NBAS):c.4843C>T (p.Arg1615Ter) rs1222594800
NM_015909.4(NBAS):c.6147-1G>T rs1667423312
NM_015909.4(NBAS):c.686dup (p.Ser230fs) rs759315662
NM_015915.5(ATL1):c.1226G>A (p.Gly409Asp) rs2039539644
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.650G>A (p.Arg217Gln) rs119476049
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015922.3(NSDHL):c.208C>T (p.Gln70Ter) rs1933337210
NM_015981.4(CAMK2A):c.502C>T (p.Gln168Ter) rs1755922883
NM_016011.5(MECR):c.855T>G (p.Tyr285Ter) rs1057519286
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016077.5(PTRH2):c.269_270del (p.Ala90fs) rs786201017
NM_016103.4(SAR1B):c.80_81del (p.Lys27fs)
NM_016120.4(RLIM):c.1093C>T (p.Arg365Cys) rs1569309816
NM_016169.4(SUFU):c.1220_1221insT (p.Phe408fs) rs2063697672
NM_016169.4(SUFU):c.225del (p.Asn76fs)
NM_016180.5(SLC45A2):c.386-1G>A rs1753106609
NM_016213.5(TRIP4):c.831dup (p.Arg278fs)
NM_016213.5(TRIP4):c.890G>A (p.Trp297Ter) rs1891715888
NM_016239.4(MYO15A):c.2492_2520dup (p.Pro841fs)
NM_016239.4(MYO15A):c.2873dup (p.Val959fs)
NM_016239.4(MYO15A):c.4423dup (p.Ile1475fs)
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter) rs1567649945
NM_016333.4(SRRM2):c.321_327dup (p.Glu110fs)
NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg) rs587777127
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) rs201008667
NM_016373.4(WWOX):c.716T>G (p.Leu239Arg) rs2083042603
NM_016373.4(WWOX):c.854del (p.Asn285fs) rs1394607357
NM_016525.5(UBAP1):c.426_427del (p.Lys143fs) rs1563920252
NM_016580.4(PCDH12):c.2424G>A (p.Trp808Ter)
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter) rs1564421528
NM_016648.4(LARP7):c.1089_1090del (p.His363fs) rs772451147
NM_016648.4(LARP7):c.1147G>T (p.Glu383Ter) rs145790898
NM_016648.4(LARP7):c.834dup (p.Arg279fs) rs763929099
NM_017410.3(HOXC13):c.861_862insACTTGCGGCTAGCAAGTTCATCACCAAA (p.Glu288delinsThrCysGlyTer) rs2136358078
NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs) rs760866131
NM_017433.5(MYO3A):c.4545+2T>G
NM_017534.6(MYH2):c.3502G>T (p.Glu1168Ter) rs765529429
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017588.3(WDR5):c.623C>T (p.Thr208Met)
NM_017612.5(ZCCHC8):c.557C>T (p.Pro186Leu) rs1317757765
NM_017617.5(NOTCH1):c.2407C>T (p.Gln803Ter)
NM_017617.5(NOTCH1):c.3656_3666del (p.Glu1219fs)
NM_017617.5(NOTCH1):c.428del (p.Pro143fs) rs2133377982
NM_017646.6(TRIT1):c.334del (p.Arg112fs) rs536000212
NM_017654.4(SAMD9):c.3877C>T (p.Arg1293Trp) rs1584251938
NM_017739.4(POMGNT1):c.1785+1G>C
NM_017763.6(RNF43):c.295_296del (p.Leu99fs)
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter) rs372174845
NM_017780.4(CHD7):c.4593G>A (p.Trp1531Ter) rs2150786107
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) rs757160222
NM_017780.4(CHD7):c.5960dup (p.Val1988fs)
NM_017780.4(CHD7):c.6087del (p.Val2030fs) rs1805506816
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.664C>T (p.Gln222Ter) rs1809060555
NM_017780.4(CHD7):c.695del (p.Pro232fs)
NM_017780.4(CHD7):c.7426dup (p.Asp2476fs)
NM_017780.4(CHD7):c.7681_7709del (p.Gly2561fs)
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) rs1064793346
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) rs886041166
NM_017838.4(NHP2):c.460T>A (p.Ter154Arg) rs121908091
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter) rs750979204
NM_017849.4(TMEM127):c.278_288del (p.Leu93fs)
NM_017849.4(TMEM127):c.41_42delinsT (p.Arg14fs)
NM_017849.4(TMEM127):c.42del (p.Arg15fs)
NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs) rs869320719
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017934.7(PHIP):c.1628_1653+13del
NM_017934.7(PHIP):c.1949_1950delinsGTTG (p.Leu650fs)
NM_017934.7(PHIP):c.2537+2T>A
NM_017934.7(PHIP):c.2668C>T (p.Gln890Ter) rs961624298
NM_017934.7(PHIP):c.703del (p.Tyr235fs)
NM_017934.7(PHIP):c.857dup (p.Ser287fs)
NM_017934.7(PHIP):c.919_923del (p.Ile307fs) rs771126523
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017950.4(CCDC40):c.855+1G>A rs1346603171
NM_017951.5(SMPD4):c.1487del (p.Ile496fs) rs2104803174
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018060.4(IARS2):c.547_550del (p.Lys183fs)
NM_018062.4(FANCL):c.739_740dup (p.Met247fs) rs1685514075
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_018075.5(ANO10):c.131_132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1551dup (p.Ala518fs) rs2079693628
NM_018075.5(ANO10):c.472+1G>T
NM_018075.5(ANO10):c.96del (p.Glu33fs) rs758937084
NM_018082.6(POLR3B):c.2376del (p.Met794fs) rs1592752356
NM_018105.3(THAP1):c.197_198del (p.Glu66fs) rs1802672249
NM_018105.3(THAP1):c.201CAA[2] (p.Asn69del) rs1563644810
NM_018105.3(THAP1):c.390dup (p.Val131fs) rs1752065573
NM_018122.5(DARS2):c.823C>T (p.Gln275Ter)
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
NM_018136.5(ASPM):c.2217_2221del (p.Ile740fs)
NM_018136.5(ASPM):c.4870delinsTATATTCTGGT (p.Lys1624fs) rs2125096288
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs) rs199422169
NM_018136.5(ASPM):c.637del (p.Ile213fs) rs587783258
NM_018136.5(ASPM):c.6623_6626del (p.Tyr2208fs) rs1571599902
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.7783_7786del (p.Lys2595fs) rs763800571
NM_018136.5(ASPM):c.8263del (p.Arg2755fs)
NM_018136.5(ASPM):c.8469_8472delinsGC (p.Ala2824fs)
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.9743_9744del (p.Lys3248fs)
NM_018149.7(SMG8):c.1541dup (p.Asn514fs)
NM_018161.5(NADSYN1):c.86-2A>C rs2120383809
NM_018249.6(CDK5RAP2):c.4420C>T (p.Gln1474Ter)
NM_018249.6(CDK5RAP2):c.4977T>G (p.Tyr1659Ter)
NM_018294.6(CWF19L1):c.467del (p.Pro156fs) rs879255654
NM_018294.6(CWF19L1):c.612del (p.Arg204fs) rs1431707463
NM_018344.6(SLC29A3):c.1045del (p.Leu349fs) rs869025176
NM_018451.5(CPAP):c.2117_2118del (p.Asp705_Ser706insTer) rs761856922
NM_018451.5(CPAP):c.3243_3246del (p.Ser1081fs) rs199422203
NM_018486.3(HDAC8):c.581_582del (p.Lys194fs) rs2148131600
NM_018489.3(ASH1L):c.2770_2783del (p.Ser924fs) rs2148725649
NM_018489.3(ASH1L):c.4656_4659del (p.Glu1553fs)
NM_018489.3(ASH1L):c.7558_7559dup (p.Tyr2521fs) rs2148337014
NM_018668.5(VPS33B):c.1235_1236delinsG (p.Pro412fs)
NM_018668.5(VPS33B):c.1312C>T (p.Arg438Ter) rs121434384
NM_018684.4(ZC4H2):c.225+5G>A rs1057520298
NM_018706.7(DHTKD1):c.467dup (p.Thr157fs) rs1554791360
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_018941.4(CLN8):c.789G>C (p.Trp263Cys) rs28940569
NM_018946.4(NANS):c.449-9_449-5del rs747138950
NM_018965.4(TREM2):c.199del (p.His67fs) rs1294860969
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_019032.6(ADAMTSL4):c.1458del (p.Val487fs)
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_019042.5(PUS7):c.965_966dup (p.Phe323fs) rs2133132945
NM_019066.5(MAGEL2):c.1761G>A (p.Trp587Ter) rs1566784441
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.1663-2137C>T rs998703203
NM_019098.5(CNGB3):c.29dup (p.Val11fs) rs1442286151
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro) rs267606651
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr) rs1596261268
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_019616.4(F7):c.225+1G>C rs1566906827
NM_019842.4(KCNQ5):c.769del (p.Ser257fs)
NM_020061.6(OPN1LW):c.354C>G (p.Tyr118Ter) rs2067072148
NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys) rs866373727
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1527C>A (p.Cys509Ter) rs1713695107
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020184.4(CNNM4):c.1296del (p.Asp433fs) rs2078772292
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020247.5(COQ8A):c.350del (p.Pro117fs)
NM_020247.5(COQ8A):c.947_948del (p.Leu316fs)
NM_020297.4(ABCC9):c.3346C>G (p.Arg1116Gly)
NM_020297.4(ABCC9):c.3917G>A (p.Trp1306Ter)
NM_020320.5(RARS2):c.110+5A>G rs63749985
NM_020320.5(RARS2):c.1A>T (p.Met1Leu) rs774923951
NM_020320.5(RARS2):c.2T>G (p.Met1Arg) rs199862050
NM_020320.5(RARS2):c.963_964del (p.Tyr322fs) rs773838753
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.1621G>T (p.Glu541Ter)
NM_020366.4(RPGRIP1):c.218+2T>A
NM_020366.4(RPGRIP1):c.2367+1G>A rs1882968821
NM_020366.4(RPGRIP1):c.2608_2609insA (p.Leu870fs) rs878853389
NM_020366.4(RPGRIP1):c.3239-1_3241del rs1884133804
NM_020366.4(RPGRIP1):c.676dup (p.Ile226fs) rs1881125294
NM_020376.4(PNPLA2):c.799del (p.Ala267fs) rs1845756775
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
NM_020435.4(GJC2):c.392dup (p.His132fs) rs1211122898
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs) rs1085307499
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.814C>T (p.Gln272Ter) rs2047935649
NM_020451.3(SELENON):c.817G>A (p.Gly273Arg) rs2124448034
NM_020529.3(NFKBIA):c.95G>A (p.Ser32Asn) rs28933100
NM_020547.3(AMHR2):c.1332_1358del (p.Gly445_Leu453del) rs764761319
NM_020631.6(PLEKHG5):c.58del (p.Arg20fs) rs1553175760
NM_020661.4(AICDA):c.203G>A (p.Trp68Ter) rs104894325
NM_020661.4(AICDA):c.415A>G (p.Met139Val) rs104894322
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter) rs769399833
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_020699.4(GATAD2B):c.185_186del (p.Glu62fs) rs1674948389
NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter) rs886041621
NM_020699.4(GATAD2B):c.973C>T (p.Gln325Ter) rs1064794066
NM_020719.3(PRR12):c.1255_1256del (p.Ser419fs) rs2122290201
NM_020719.3(PRR12):c.1441_1450del (p.Gln481fs)
NM_020719.3(PRR12):c.1507C>T (p.Gln503Ter)
NM_020719.3(PRR12):c.1570del (p.Leu524fs)
NM_020719.3(PRR12):c.2281C>T (p.Gln761Ter)
NM_020719.3(PRR12):c.3958C>T (p.Arg1320Ter) rs2122309575
NM_020719.3(PRR12):c.87-1G>T
NM_020738.4(KIDINS220):c.3874dup (p.Ser1292fs)
NM_020745.4(AARS2):c.1329T>A (p.Cys443Ter)
NM_020745.4(AARS2):c.2007+1G>C rs2153354335
NM_020745.4(AARS2):c.2611dup (p.Thr871fs) rs749666514
NM_020745.4(AARS2):c.781del (p.Gln261fs) rs1554148927
NM_020778.5(ALPK3):c.2043_2044delinsCT (p.Gln681_Glu682delinsHisTer) rs2141567430
NM_020778.5(ALPK3):c.749G>A (p.Trp250Ter)
NM_020779.4(WDR35):c.707G>A (p.Cys236Tyr) rs1672141593
NM_020791.4(TAOK1):c.1813C>T (p.Arg605Ter)
NM_020821.3(VPS13C):c.3196_3197delinsT (p.Asn1066fs) rs2140329273
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) rs370521183
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.811G>T (p.Val271Phe) rs1831669014
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020894.4(UVSSA):c.430-1G>C
NM_020919.4(ALS2):c.1640+1G>A rs2106074229
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter) rs778744393
NM_020937.4(FANCM):c.2777_2778del (p.Glu926fs)
NM_020937.4(FANCM):c.2827del (p.Asp943fs)
NM_020937.4(FANCM):c.336dup (p.Thr113fs) rs2139102686
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter) rs751795256
NM_020937.4(FANCM):c.5707G>T (p.Glu1903Ter)
NM_020964.3(EPG5):c.3406C>T (p.Gln1136Ter)
NM_020971.3(SPTBN4):c.6320_6336+10del rs2145952062
NM_020975.6(RET):c.1826G>T (p.Cys609Phe) rs77939446
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020987.5(ANK3):c.4365_4368del (p.Arg1456fs) rs2084966849
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) rs886039494
NM_020988.3(GNAO1):c.736_738delinsAAA (p.Glu246Lys) rs2143699590
NM_020989.4(CRYGC):c.402C>A (p.Tyr134Ter)
NM_020989.4(CRYGC):c.402C>G (p.Tyr134Ter) rs200505176
NM_020989.4(CRYGC):c.469delinsAG (p.Trp157fs) rs2105857780
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp) rs587777408
NM_021035.3(ZNFX1):c.2793G>A (p.Trp931Ter) rs2146732210
NM_021076.4(NEFH):c.3057dup (p.Lys1020fs) rs2063076388
NM_021120.4(DLG3):c.2035C>T (p.Arg679Ter) rs1602991098
NM_021224.6(ZNF462):c.2283G>A (p.Trp761Ter)
NM_021224.6(ZNF462):c.5531_5544del (p.Leu1844fs) rs2131515110
NM_021244.5(RRAGD):c.356C>G (p.Pro119Arg) rs2127890783
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021628.3(ALOXE3):c.1573G>T (p.Glu525Ter)
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) rs28937887
NM_021830.5(TWNK):c.1342A>G (p.Asn448Asp) rs2133939614
NM_021830.5(TWNK):c.1379C>G (p.Ala460Gly) rs1590020406
NM_021830.5(TWNK):c.985C>T (p.Arg329Ter) rs1851689793
NM_021831.6(AGBL5):c.1801C>T (p.Arg601Ter)
NM_021831.6(AGBL5):c.356G>A (p.Trp119Ter) rs2148269372
NM_021871.4(FGA):c.1670_1673del (p.Thr557fs)
NM_021922.3(FANCE):c.1141_1144del (p.Arg381fs) rs2150896309
NM_021939.4(FKBP10):c.-8_78del (p.Met1fs)
NM_021939.4(FKBP10):c.1343_1344del (p.Val448fs) rs797044852
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs) rs759415592
NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs) rs771717941
NM_021964.3(ZNF148):c.969dup (p.Ser324fs) rs1935959694
NM_022124.6(CDH23):c.2975dup (p.Pro993fs)
NM_022124.6(CDH23):c.4453del (p.Leu1485fs) rs776986046
NM_022124.6(CDH23):c.9077+1G>A rs1841885880
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr) rs119103223
NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys) rs587777448
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter) rs121908452
NM_022455.5(NSD1):c.1034_1037dup (p.Leu346fs) rs2149821358
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs) rs587784092
NM_022455.5(NSD1):c.3231_3237delinsTC (p.Leu1078fs) rs2149847729
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.5(NSD1):c.3575del (p.Pro1192fs) rs1064796114
NM_022455.5(NSD1):c.3892_3896del (p.Gln1298fs)
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg) rs1756522180
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter) rs1581491984
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.5(NSD1):c.5768_5769del (p.Thr1923fs) rs1758801009
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)
NM_022455.5(NSD1):c.858del (p.Ser287fs) rs2149757050
NM_022464.5(SIL1):c.244+1G>A
NM_022464.5(SIL1):c.646-2A>G
NM_022552.5(DNMT3A):c.1028del (p.Lys343fs)
NM_022552.5(DNMT3A):c.1044del (p.Ser349fs)
NM_022552.5(DNMT3A):c.1346del (p.Ala449fs) rs2149300394
NM_022552.5(DNMT3A):c.1555-1G>T
NM_022552.5(DNMT3A):c.1802G>A (p.Trp601Ter)
NM_022552.5(DNMT3A):c.1851+1G>C rs928051436
NM_022552.5(DNMT3A):c.2048_2053delinsC (p.Tyr683fs)
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.890G>A (p.Trp297Ter) rs944608317
NM_022575.4(VPS16):c.1326T>A (p.Tyr442Ter)
NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter) rs887346658
NM_022787.4(NMNAT1):c.364del (p.Arg122fs) rs1413885352
NM_022834.5(VWA1):c.62_71dup (p.Gly25fs) rs749383814
NM_023067.4(FOXL2):c.673_*315inv (p.Ala225_Leu376delinsTrpAlaGlyAspAlaGlyAlaProGluArgAspGluProSerArgLysArgAlaGluArgGlnLeuGlnAlaArgGlyValGlnGlyHisArgGlyGlnGlyGlyGluHisArgArgThr)
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_023110.3(FGFR1):c.101G>A (p.Trp34Ter)
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter) rs2076017638
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del) rs750035706
NM_024298.5(MBOAT7):c.849dup (p.Ser284fs)
NM_024298.5(MBOAT7):c.967del (p.Thr323fs)
NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr) rs1555739020
NM_024301.5(FKRP):c.169G>T (p.Glu57Ter) rs773024545
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) rs759875552
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024408.4(NOTCH2):c.5983_5984del (p.Leu1995fs) rs1649134213
NM_024422.6(DSC2):c.1114G>T (p.Glu372Ter)
NM_024422.6(DSC2):c.1213A>T (p.Lys405Ter) rs1023394201
NM_024422.6(DSC2):c.1239del (p.Asn413fs) rs2144818920
NM_024422.6(DSC2):c.584_595delinsCA (p.Leu195fs)
NM_024426.6(WT1):c.900C>G (p.Tyr300Ter) rs190440703
NM_024496.4(IRF2BPL):c.2138del (p.Leu713fs) rs1885090034
NM_024496.4(IRF2BPL):c.291_325del (p.Gln103fs)
NM_024496.4(IRF2BPL):c.516_543del (p.Tyr173fs) rs2139975910
NM_024513.4(FYCO1):c.2710_2713del (p.Asp904fs)
NM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs) rs747093432
NM_024529.5(CDC73):c.291T>G (p.Tyr97Ter) rs1675671187
NM_024577.4(SH3TC2):c.2266C>T (p.Gln756Ter)
NM_024577.4(SH3TC2):c.805+2T>C rs139052887
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter) rs1754320158
NM_024589.3(ROGDI):c.507del (p.Glu170fs) rs786205124
NM_024649.5(BBS1):c.1123dup (p.Ser375fs) rs1856478896
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.831-2A>G rs1057517332
NM_024665.7(TBL1XR1):c.646C>T (p.Arg216Ter)
NM_024666.5(AAGAB):c.140G>A (p.Trp47Ter) rs2140380826
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter)
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1881_1885del (p.Lys628fs)
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter) rs1555461875
NM_024675.4(PALB2):c.2296_2297del (p.Val767fs) rs876658170
NM_024675.4(PALB2):c.2457del (p.Glu820fs) rs1966856088
NM_024675.4(PALB2):c.2470dup (p.Cys824fs) rs863224521
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter) rs1304351755
NM_024675.4(PALB2):c.2652_2653delinsT (p.Glu884fs)
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter) rs1021662947
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter) rs1555457867
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs) rs587776426
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.48+1G>T rs515726118
NM_024675.4(PALB2):c.487_488del (p.Val163fs) rs745533713
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.620dup (p.Asp208fs)
NM_024675.4(PALB2):c.658del (p.Ser220fs) rs876659328
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter) rs878855123
NM_024675.4(PALB2):c.886dup (p.Met296fs) rs587776408
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs) rs1951757988
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala) rs137852837
NM_024721.5(ZFHX4):c.2969_2970del (p.Cys990fs) rs2131614875
NM_024721.5(ZFHX4):c.7517_7524dup (p.Gln2509fs)
NM_024753.5(TTC21B):c.3625C>T (p.Gln1209Ter)
NM_024757.5(EHMT1):c.1061_1062del (p.Glu354fs) rs1064796085
NM_024757.5(EHMT1):c.2498del (p.Asp833fs) rs1952477688
NM_024757.5(EHMT1):c.2712+1G>A rs1057518849
NM_024757.5(EHMT1):c.508C>T (p.Gln170Ter) rs1554846766
NM_024782.3(NHEJ1):c.390+1G>C rs786205547
NM_024809.5(TCTN2):c.1794C>G (p.Tyr598Ter)
NM_024809.5(TCTN2):c.83-2_96dup
NM_024818.6(UBA5):c.1131+2T>C rs1938819381
NM_024876.4(COQ8B):c.1339dup (p.Glu447fs)
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) rs1057519347
NM_024884.3(L2HGDH):c.528G>T (p.Glu176Asp) rs2029895356
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025009.5(CEP135):c.2928dup (p.Leu977fs)
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs) rs730882179
NM_025114.4(CEP290):c.102+1G>T rs2040637111
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs) rs62640580
NM_025114.4(CEP290):c.2248_2249del (p.Leu750fs) rs587783010
NM_025114.4(CEP290):c.2387_2392delinsTCTTC (p.Lys796fs)
NM_025114.4(CEP290):c.297+2T>C rs2040496802
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3310-1_3310delinsAA rs2037150824
NM_025114.4(CEP290):c.3462dup (p.Leu1155fs) rs2037140260
NM_025114.4(CEP290):c.4207del (p.Arg1403fs) rs2036582730
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.6797G>A (p.Trp2266Ter) rs2034232539
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs) rs1220982145
NM_025137.4(SPG11):c.227del (p.Gly76fs)
NM_025137.4(SPG11):c.227dup (p.Arg77fs)
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.4(SPG11):c.276_285del (p.Arg93fs) rs747220413
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.4235C>G (p.Ser1412Ter)
NM_025137.4(SPG11):c.442+1G>C rs312262715
NM_025137.4(SPG11):c.5156_5162del (p.Glu1719fs)
NM_025137.4(SPG11):c.5255del (p.Phe1752fs) rs312262763
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) rs147713329
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter) rs1595817021
NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter) rs778305085
NM_025137.4(SPG11):c.869+1G>T rs312262721
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met) rs1052954321
NM_025145.7(CFAP43):c.3831T>G (p.Tyr1277Ter)
NM_025191.4(EDEM3):c.1942C>T (p.Arg648Ter)
NM_025191.4(EDEM3):c.346-1G>A
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala) rs121917884
NM_025243.4(SLC19A3):c.20C>A (p.Ser7Ter) rs713993048
NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg) rs1695586409
NM_025243.4(SLC19A3):c.894T>G (p.Tyr298Ter) rs1474448985
NM_030630.3(HID1):c.957dup (p.Gly320fs) rs2144812065
NM_030632.3(ASXL3):c.1072_1074delinsAA (p.Tyr358fs) rs2145403032
NM_030632.3(ASXL3):c.1274_1278del (p.Met425fs) rs2145411745
NM_030632.3(ASXL3):c.1783C>T (p.Gln595Ter) rs1568360291
NM_030632.3(ASXL3):c.1990C>T (p.Gln664Ter)
NM_030632.3(ASXL3):c.3745_3748delinsTTT (p.Ile1249fs) rs2145425465
NM_030632.3(ASXL3):c.4219_4220del (p.Leu1407fs) rs1555744178
NM_030632.3(ASXL3):c.4255_4258dup (p.Met1420fs) rs1555744217
NM_030665.4(RAI1):c.1399_1412del (p.Asn467fs) rs2032146977
NM_030665.4(RAI1):c.2386dup (p.Glu796fs)
NM_030665.4(RAI1):c.3257dup (p.Lys1087fs)
NM_030665.4(RAI1):c.459dup (p.Ser154fs)
NM_030665.4(RAI1):c.5176G>T (p.Glu1726Ter)
NM_030665.4(RAI1):c.837_841delinsAT (p.Gln280_Gln281delinsTer) rs2143001748
NM_030665.4(RAI1):c.847C>T (p.Gln283Ter) rs2032120646
NM_030962.4(SBF2):c.1601-2A>G
NM_031263.4(HNRNPK):c.950_953+1dup
NM_031370.3(HNRNPD):c.104_105del (p.Gln35fs)
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_031443.4(CCM2):c.169_172del (p.Arg57fs) rs1562882045
NM_031443.4(CCM2):c.472+2_472+7del
NM_031443.4(CCM2):c.510_511del (p.Ala171fs)
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) rs515726204
NM_031844.3(HNRNPU):c.1060_1061del (p.Asp353_Ile354insTer) rs2102987471
NM_031844.3(HNRNPU):c.165del (p.Asn57fs) rs1680936726
NM_031844.3(HNRNPU):c.1852C>T (p.Gln618Ter) rs1680684866
NM_031844.3(HNRNPU):c.1919_1920del (p.Phe640fs)
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter) rs1060501739
NM_032043.3(BRIP1):c.1502_1503del (p.Glu501fs)
NM_032043.3(BRIP1):c.1914_1915del (p.Asn638fs)
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.627+2T>C rs2078745026
NM_032119.4(ADGRV1):c.10935_10938del (p.Ser3646fs) rs1754555183
NM_032119.4(ADGRV1):c.15916G>T (p.Gly5306Ter)
NM_032119.4(ADGRV1):c.1608C>A (p.Tyr536Ter) rs1561416879
NM_032119.4(ADGRV1):c.16805del (p.Pro5602fs) rs1765353894
NM_032119.4(ADGRV1):c.2790G>A (p.Trp930Ter) rs1767488078
NM_032131.6(ARMC2):c.279dup (p.Pro94fs)
NM_032217.5(ANKRD17):c.988_989del (p.Gln330fs)
NM_032380.5(GFM2):c.1321-1G>A rs1240552971
NM_032415.7(CARD11):c.367G>A (p.Gly123Ser) rs387907352
NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter) rs797044962
NM_032436.4(CHAMP1):c.1363C>T (p.Gln455Ter) rs2087230045
NM_032436.4(CHAMP1):c.676A>T (p.Lys226Ter) rs2087215071
NM_032444.4(SLX4):c.1116_1117insT (p.Leu373fs) rs2151133987
NM_032444.4(SLX4):c.1125del (p.Ala376fs) rs2151133964
NM_032444.4(SLX4):c.1696G>T (p.Glu566Ter)
NM_032444.4(SLX4):c.3619_3643del (p.Pro1207fs) rs1440022090
NM_032444.4(SLX4):c.3916C>T (p.Gln1306Ter) rs2040557100
NM_032444.4(SLX4):c.5229dup (p.Gln1744fs) rs781479923
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032520.5(GNPTG):c.233+1G>C rs376679416
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032551.5(KISS1R):c.735del (p.Gln246fs) rs2145321015
NM_032638.5(GATA2):c.177C>G (p.Tyr59Ter) rs146150325
NM_032730.5(RTN4IP1):c.928C>T (p.Arg310Ter)
NM_032801.5(JAM3):c.230_231del (p.Tyr77fs) rs1942959311
NM_032801.5(JAM3):c.358C>T (p.Arg120Ter) rs750102309
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs) rs1596050297
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) rs797044994
NM_032930.3(CFAP300):c.198_200delinsCC (p.Phe67fs) rs1555069023
NM_033028.5(BBS4):c.157-3C>G rs1567412639
NM_033028.5(BBS4):c.867del (p.Ile290fs)
NM_033305.3(VPS13A):c.3971_3974del (p.Ser1324fs) rs1475930869
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) rs116840789
NM_033360.4(KRAS):c.175G>T (p.Ala59Ser) rs121913528
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_033380.3(COL4A5):c.1226G>T (p.Gly409Val) rs104886101
NM_033380.3(COL4A5):c.1294G>C (p.Gly432Arg)
NM_033380.3(COL4A5):c.1990A>T (p.Lys664Ter)
NM_033380.3(COL4A5):c.2023G>A (p.Gly675Ser) rs104886157
NM_033380.3(COL4A5):c.2395+1G>A rs869025331
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_033380.3(COL4A5):c.465+2T>C rs2066070104
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter) rs104886286
NM_033380.3(COL4A5):c.4821G>A (p.Met1607Ile) rs104886300
NM_033380.3(COL4A5):c.866G>T (p.Gly289Val) rs104886450
NM_033380.3(COL4A5):c.99del (p.Pro34fs)
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) rs778363575
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) rs1407446171
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_052867.4(NALCN):c.1745A>G (p.Tyr582Cys)
NM_052867.4(NALCN):c.2831del (p.Phe944fs)
NM_052867.4(NALCN):c.3059T>C (p.Val1020Ala) rs2034773072
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr) rs1057519433
NM_052988.5(CDK10):c.520_521del (p.Lys174fs) rs1567520269
NM_052988.5(CDK10):c.608+1G>A rs771066826
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter) rs770780171
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val) rs121908647
NM_054012.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_054027.6(ANKH):c.1124_1126del (p.Ser375del) rs121908406
NM_057175.5(NAA15):c.2038G>T (p.Glu680Ter) rs1748583571
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter) rs1270628305
NM_057175.5(NAA15):c.430C>T (p.Arg144Ter) rs1560966086
NM_057175.5(NAA15):c.692-2del rs2110930000
NM_057175.5(NAA15):c.783C>A (p.Tyr261Ter)
NM_058004.4(PI4KA):c.1080del (p.Ser361fs)
NM_058172.6(ANTXR2):c.1268_1269del (p.Glu423fs)
NM_058195.4(CDKN2A):c.102G>A (p.Trp34Ter) rs1820531050
NM_058195.4(CDKN2A):c.194-3653G>T rs1800586
NM_058216.3(RAD51C):c.409C>T (p.Gln137Ter) rs2048021234
NM_058216.3(RAD51C):c.525dup (p.Cys176fs) rs768793789
NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val) rs869320701
NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu) rs149278319
NM_078480.3(PUF60):c.51del (p.Ser18fs) rs1563839312
NM_080632.3(UPF3B):c.2_3insA (p.Met1fs) rs1569464167
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) rs794727881
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs) rs886044584
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.4123-1G>T rs2150524851
NM_080916.3(DGUOK):c.707+3_707+6del
NM_130837.3(OPA1):c.1035+1G>A rs727504059
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.1157dup (p.Ser387fs) rs1733978179
NM_130837.3(OPA1):c.1230+1G>A rs80356528
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) rs104893753
NM_130837.3(OPA1):c.1377+4del rs2109043753
NM_130837.3(OPA1):c.1478A>T (p.Asp493Val) rs1734162973
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.154C>T (p.Arg52Ter) rs1560327427
NM_130837.3(OPA1):c.1575_1608+4del rs1734176382
NM_130837.3(OPA1):c.1681+1G>T rs886041318
NM_130837.3(OPA1):c.1754+2T>G
NM_130837.3(OPA1):c.1899G>A (p.Trp633Ter) rs1711514692
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.2057_2058del (p.His686fs) rs1713427542
NM_130837.3(OPA1):c.2162del (p.Pro721fs)
NM_130837.3(OPA1):c.2284G>T (p.Glu762Ter) rs2109163970
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter) rs863224906
NM_130837.3(OPA1):c.2440+1G>A
NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter) rs1553785338
NM_130837.3(OPA1):c.2702dup (p.Leu901fs) rs2109253692
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) rs794727405
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2815C>T (p.Gln939Ter) rs2109268057
NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2926_2939del (p.Asp975_Gly976insTer) rs1553788026
NM_130837.3(OPA1):c.610+364G>A rs983041061
NM_130837.3(OPA1):c.629_631delinsGC (p.Ala210fs) rs2108889206
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.820C>T (p.Gln274Ter) rs1732086609
NM_130837.3(OPA1):c.949-1G>C rs1733081846
NM_130837.3(OPA1):c.959_962del (p.Ile320fs) rs1064794208
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys) rs1064793307
NM_130839.5(UBE3A):c.1609-8A>G rs2077891986
NM_130839.5(UBE3A):c.2419del (p.Thr807fs)
NM_130839.5(UBE3A):c.2430_2433del (p.Asp810fs) rs587781225
NM_130839.5(UBE3A):c.2535_2544dup (p.Tyr849fs) rs2074302214
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer) rs587780570
NM_133330.3(NSD2):c.1676_1679del rs1553873247
NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter) rs587783901
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter) rs80358374
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter) rs587783936
NM_133433.4(NIPBL):c.5225+2_5225+5del
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.8274dup (p.Leu2759fs) rs1554036165
NM_133433.4(NIPBL):c.8368C>T (p.Gln2790Ter) rs2149761269
NM_133497.4(KCNV2):c.1186G>T (p.Gly396Ter) rs138924201
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs) rs786205121
NM_134261.3(RORA):c.1498C>T (p.Arg500Ter) rs1555421544
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp) rs753688777
NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)
NM_138459.5(NUS1):c.128_141dup (p.Val48fs) rs1554200722
NM_138459.5(NUS1):c.367dup (p.Trp123fs)
NM_138459.5(NUS1):c.622dup (p.Cys208fs)
NM_138477.4(CDAN1):c.2992C>T (p.Arg998Ter)
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs) rs1334145215
NM_138694.4(PKHD1):c.11438del (p.Phe3813fs) rs1554169567
NM_138694.4(PKHD1):c.1959del (p.Glu654fs)
NM_138694.4(PKHD1):c.2543G>A (p.Trp848Ter) rs1581928360
NM_138694.4(PKHD1):c.5375del (p.Leu1792fs) rs1266902064
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs) rs774050795
NM_138927.4(SON):c.2727dup (p.Ser910fs) rs2085805732
NM_138927.4(SON):c.4445_4446del (p.His1482fs)
NM_138927.4(SON):c.5722del (p.Arg1908fs) rs1601274465
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
NM_139027.6(ADAMTS13):c.3288dup (p.Asp1097Ter)
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer) rs797045292
NM_139058.3(ARX):c.1471dup (p.Leu491fs) rs797045292
NM_139058.3(ARX):c.435_475del (p.Ala146fs)
NM_139058.3(ARX):c.467G>A (p.Trp156Ter) rs2048711878
NM_139058.3(ARX):c.994C>T (p.Arg332Cys) rs2147323593
NM_139242.4(MTFMT):c.834_835delinsAT (p.Trp278_Met279delinsTer)
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln) rs113994136
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139
NM_139276.3(STAT3):c.1940A>T (p.Asn647Ile) rs770986654
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) rs869312892
NM_139276.3(STAT3):c.994C>T (p.His332Tyr) rs2144827923
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) rs104894490
NM_144672.4(OTOA):c.400-2A>G
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter) rs398124524
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1305del (p.Phe435fs) rs398124527
NM_144997.7(FLCN):c.259_280del (p.Ser87fs)
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.563del (p.Phe188fs) rs1597606551
NM_145200.3(CABP4):c.800_801delAG rs786205249
NM_145200.5(CABP4):c.457dup (p.Glu153fs) rs1864796755
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.182C>A (p.Ser61Ter) rs2142422901
NM_145239.3(PRRT2):c.250del (p.Ala84fs) rs2142423353
NM_145239.3(PRRT2):c.27dup (p.Glu10Ter) rs1900057283
NM_145239.3(PRRT2):c.433dup (p.Arg145fs) rs796052944
NM_145239.3(PRRT2):c.449dup (p.Thr151fs) rs1900085480
NM_145239.3(PRRT2):c.593_594del (p.Pro198fs) rs1260966131
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs) rs1064793851
NM_145239.3(PRRT2):c.641_642insA (p.Arg217fs) rs1900098354
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) rs77838305
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.904_905delinsT (p.Asp302fs) rs2142428882
NM_145239.3(PRRT2):c.971G>A (p.Gly324Glu) rs796052938
NM_145239.3(PRRT2):c.971dup (p.Val325fs) rs796052941
NM_145262.4(GLYCTK):c.725_731del (p.Ser242fs)
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152274.5(CCNQ):c.655C>T (p.Gln219Ter) rs2090998416
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys) rs557052809
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.3042A>C (p.Ter1014Cys)
NM_152305.3(POGLUT1):c.320_321insA (p.Cys108fs)
NM_152419.3(HGSNAT):c.1726G>T (p.Gly576Ter) rs1366558211
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152564.5(VPS13B):c.10302T>A (p.Tyr3434Ter)
NM_152564.5(VPS13B):c.10334del (p.Val3445fs)
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter) rs758842658
NM_152564.5(VPS13B):c.11029_11030del (p.Lys3677fs)
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=) rs180177355
NM_152564.5(VPS13B):c.1609del (p.Tyr537fs)
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs)
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.404dup (p.Leu135fs) rs386834083
NM_152564.5(VPS13B):c.4325C>G (p.Ser1442Ter)
NM_152564.5(VPS13B):c.4989dup (p.Val1664fs)
NM_152564.5(VPS13B):c.5980_5981del (p.Asp1994fs) rs1830219226
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs) rs761736983
NM_152564.5(VPS13B):c.7552_7555del (p.Cys2518fs) rs886041587
NM_152564.5(VPS13B):c.8512_8516del (p.Lys2838fs) rs1814195897
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152641.4(ARID2):c.2164dup (p.Ser722fs)
NM_152641.4(ARID2):c.3065dup (p.Pro1023fs) rs2138168655
NM_152641.4(ARID2):c.3467del (p.Ile1156fs)
NM_152722.5(HEPACAM):c.298C>T (p.Arg100Ter) rs1193449236
NM_152722.5(HEPACAM):c.587C>A (p.Ser196Tyr) rs387907049
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) rs763527391
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152783.5(D2HGDH):c.326C>G (p.Ser109Trp) rs142050154
NM_152783.5(D2HGDH):c.540T>G (p.Tyr180Ter) rs752626142
NM_152906.7(TANGO2):c.4del (p.Cys2fs) rs869320693
NM_153033.5(KCTD7):c.594del (p.Ile199fs) rs727502785
NM_153218.4(LACC1):c.827del (p.Thr276fs) rs1594890601
NM_153240.5(NPHP3):c.520-1G>T rs759262253
NM_153252.5(BRWD3):c.3255_3256del (p.Tyr1085_Ser1086delinsTer)
NM_153676.4(USH1C):c.263del (p.Val88fs) rs1850961650
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153689.6(C2orf69):c.298del (p.Gln100fs) rs2077262520
NM_153700.2(STRC):c.3706C>T (p.Gln1236Ter)
NM_153704.6(TMEM67):c.1433_1434del (p.Thr478fs) rs2130697429
NM_170606.3(KMT2C):c.162-2A>G rs1359208225
NM_170606.3(KMT2C):c.3084_3085del (p.Cys1028_Asp1029delinsTer) rs2129147984
NM_170606.3(KMT2C):c.4092+1G>A
NM_170606.3(KMT2C):c.4476dup (p.Ser1493fs)
NM_170606.3(KMT2C):c.739+1G>A rs2129200410
NM_170665.4(ATP2A2):c.632G>A (p.Gly211Asp)
NM_170707.4(LMNA):c.1157+1G>C
NM_170707.4(LMNA):c.122G>A (p.Arg41His) rs1060502215
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp) rs267607599
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.91G>A (p.Glu31Lys) rs1228406418
NM_170707.4(LMNA):c.960del (p.Arg321fs) rs56771886
NM_172107.4(KCNQ2):c.1104del (p.Val369fs) rs2080902419
NM_172107.4(KCNQ2):c.1137C>A (p.Tyr379Ter)
NM_172107.4(KCNQ2):c.1141dup (p.Ala381fs) rs2080781132
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1583_1584del (p.Val528fs) rs2080211640
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln) rs118192234
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn) rs267607198
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.1772_1781del (p.Gln591fs)
NM_172107.4(KCNQ2):c.2403del (p.Phe802fs) rs2145483535
NM_172107.4(KCNQ2):c.388-1G>C
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) rs118192199
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.649_650del (p.Thr217fs) rs2081359429
NM_172107.4(KCNQ2):c.748G>T (p.Val250Leu) rs2081190344
NM_172107.4(KCNQ2):c.766G>T (p.Gly256Trp)
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.816+1G>T rs1057519124
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172240.3(POC1B):c.560+2T>G rs1882924778
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172337.2(OTX2):c.402dup (p.Ser135Leufs) rs1555350223
NM_172364.5(CACNA2D4):c.3177_3178dup (p.Asp1060fs)
NM_173076.3(ABCA12):c.2825_2826del (p.Glu942fs) rs757141816
NM_173076.3(ABCA12):c.2833dup (p.Arg945fs) rs1700146530
NM_173477.5(USH1G):c.111_112del (p.Trp38fs) rs1567941869
NM_173477.5(USH1G):c.175del (p.Asp59fs)
NM_173477.5(USH1G):c.208_209insTC (p.His70fs) rs1555627787
NM_173477.5(USH1G):c.84dup (p.Asp29fs)
NM_173500.4(TTBK2):c.2450C>G (p.Ser817Ter) rs2061886135
NM_173628.4(DNAH17):c.1076_1077dup (p.Lys360Ter)
NM_173630.4(RTTN):c.3705C>A (p.Tyr1235Ter) rs375510822
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.54+25_55-38del rs769850502
NM_173689.7(CRB2):c.755-1G>A rs2132760566
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) rs397517932
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter) rs376226764
NM_176787.5(PIGN):c.2672+1G>T rs1287655964
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_177433.3(MAGED2):c.1085_1085+12del rs2147633958
NM_177438.3(DICER1):c.1147del (p.Ile383fs)
NM_177438.3(DICER1):c.1284_1285del (p.Lys429fs) rs1893193729
NM_177438.3(DICER1):c.3676G>T (p.Glu1226Ter) rs748087536
NM_177550.5(SLC13A5):c.1157-1G>T
NM_177965.4(CFAP418):c.16_19del (p.Asp6fs) rs1563477343
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp) rs1567759130
NM_181332.3(NLGN4X):c.259C>T (p.Arg87Trp)
NM_181426.2(CCDC39):c.139G>T (p.Glu47Ter) rs774316525
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu) rs267606931
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) rs772241382
NM_181458.4(PAX3):c.668G>A (p.Arg223Gln) rs876657717
NM_181458.4(PAX3):c.715G>T (p.Glu239Ter) rs1692621563
NM_181458.4(PAX3):c.955C>T (p.Gln319Ter) rs2106074168
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_181507.2(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.2(HPS5):c.1717del (p.Arg573fs)
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1425+2T>G rs1554051075
NM_181523.3(PIK3R1):c.202dup (p.Asp68fs) rs1744295671
NM_181789.4(GLDN):c.1494G>C (p.Leu498Phe)
NM_181882.3(PRX):c.627del (p.Ala210fs) rs1599656507
NM_182641.4(BPTF):c.4035_4036del (p.Cys1345_Glu1346delinsTer) rs2146936860
NM_182641.4(BPTF):c.5301del (p.Thr1766_Trp1767insTer) rs2146968484
NM_182746.3(MCM4):c.71-2A>G rs1563829725
NM_182931.3(KMT2E):c.1729_1733del (p.Glu577fs)
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_182931.3(KMT2E):c.3524_3525insTTAG (p.Lys1175delinsAsnTer)
NM_182931.3(KMT2E):c.916del (p.Arg306fs)
NM_182943.3(PLOD2):c.1500+1G>T rs1936442200
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)
NM_182961.4(SYNE1):c.17312_17313del (p.Ile5771fs)
NM_182961.4(SYNE1):c.19179G>A (p.Trp6393Ter)
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter) rs1258745040
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter) rs1554226673
NM_182961.4(SYNE1):c.6050+1G>A
NM_182961.4(SYNE1):c.67+1G>T rs1213042460
NM_182978.4(GNAL):c.462_463del (p.Lys155fs) rs1057519098
NM_182978.4(GNAL):c.964C>T (p.Arg322Ter) rs1252185897
NM_183050.4(BCKDHB):c.163_166dup (p.Phe56fs)
NM_183050.4(BCKDHB):c.187del (p.Arg63fs)
NM_183050.4(BCKDHB):c.704G>A (p.Cys235Tyr) rs911181994
NM_183065.4(TMEM107):c.*751C>T rs117595965
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) rs864309515
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr) rs796065306
NM_194277.3(FRMD7):c.134T>G (p.Leu45Ter) rs1928472916
NM_194277.3(FRMD7):c.886G>C (p.Gly296Arg) rs1927846857
NM_194277.3(FRMD7):c.887del (p.Gly296fs)
NM_194454.3(KRIT1):c.1164del (p.Gly389fs)
NM_194454.3(KRIT1):c.1362_1363del (p.Gln455fs) rs1180476377
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs) rs1057517754
NM_194454.3(KRIT1):c.1608_1633del (p.Arg536fs) rs1793597181
NM_194454.3(KRIT1):c.729+1G>A rs1563305064
NM_197968.4(ZMYM2):c.1730C>G (p.Ser577Ter)
NM_198129.4(LAMA3):c.5980_5981del (p.Glu1993_Ala1994insTer) rs1057516688
NM_198129.4(LAMA3):c.7120C>T (p.Arg2374Ter)
NM_198271.5(LMOD3):c.1004A>G (p.Gln335Arg) rs1057519129
NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe) rs1057519128
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter) rs1401715737
NM_198503.5(KCNT2):c.569G>A (p.Arg190His) rs1572547466
NM_198578.4(LRRK2):c.4310A>G (p.Asn1437Ser) rs1944946235
NM_198578.4(LRRK2):c.6059T>C (p.Ile2020Thr) rs35870237
NM_198586.3(NHLRC1):c.1049_1050del (p.Glu350fs)
NM_198880.3(QRICH1):c.1453_1454del (p.Trp485fs)
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln) rs397514737
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.2118del (p.Cys707fs) rs2125472156
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs) rs1366609497
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter) rs1665487563
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.506del (p.Gly169fs) rs1167867158
NM_201253.3(CRB1):c.57dup (p.Ile20fs) rs1343680080
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.63C>A (p.Tyr21Ter) rs1654722291
NM_201384.3(PLEC):c.46C>T (p.Arg16Ter) rs374419983
NM_201548.5(CERKL):c.1073+3_1073+6del rs1553513437
NM_201548.5(CERKL):c.1086_1087del (p.Cys362_Glu363delinsTer) rs776727320
NM_201548.5(CERKL):c.323_327del (p.Cys107_Ser108insTer) rs1685567937
NM_203447.4(DOCK8):c.4201G>T (p.Glu1401Ter)
NM_203486.3(DLL3):c.1291_1307dup (p.Pro437fs) rs777791545
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs) rs786200899
NM_203486.3(DLL3):c.618del (p.Cys207fs) rs786200902
NM_203486.3(DLL3):c.661C>T (p.Arg221Ter) rs200275281
NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln) rs1557447255
NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln) rs1553122926
NM_206538.4(EMC10):c.585-1G>T
NM_206933.4(USH2A):c.10627_10628insA (p.Arg3543fs) rs1661662091
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del) rs111033408
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs) rs1657036615
NM_206933.4(USH2A):c.14439_14454del (p.Asn4812_Cys4813insTer) rs1656942613
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) rs1656419435
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs) rs748369458
NM_206933.4(USH2A):c.3722_3729delinsTCA (p.Ala1241fs) rs2102466384
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro) rs2034852728
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter) rs2032147505
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs) rs2030619513
NM_206933.4(USH2A):c.6905del (p.His2302fs) rs2102458388
NM_206933.4(USH2A):c.6990del (p.Gly2331fs) rs1667318047
NM_206933.4(USH2A):c.7027del (p.Arg2343fs) rs1667316878
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter) rs2102450764
NM_206933.4(USH2A):c.8753_8754del (p.Val2918fs)
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
NM_206937.2(LIG4):c.1423_1424insAAGATTCAACTAAATATTTAATGTTC (p.Ser475Ter) rs1878419125
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_207037.2(TCF12):c.1453C>T (p.Arg485Ter) rs760718747
NM_207037.2(TCF12):c.1876C>T (p.Arg626Ter) rs758543580
NM_207037.2(TCF12):c.592del (p.Ser198fs)
NM_207037.2(TCF12):c.662dup (p.Ala222fs) rs2059125367
NM_207037.2(TCF12):c.778_779del (p.Met260fs) rs2059175292
NM_207037.2(TCF12):c.998C>G (p.Ser333Ter) rs2151933961
NM_207122.2(EXT2):c.484C>T (p.Gln162Ter) rs2134968489
NM_207122.2(EXT2):c.540G>A (p.Trp180Ter) rs2134971524
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter) rs886039358
NM_207122.2(EXT2):c.670C>T (p.Gln224Ter) rs1565199251
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn) rs121918280
NM_207122.2(EXT2):c.829G>T (p.Gly277Ter)
NM_213599.3(ANO5):c.1520del (p.Phe507fs) rs794727158
NM_213599.3(ANO5):c.1631-12_1631-2del rs886043327
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.201_205del (p.Ser67fs) rs794727745
NM_213599.3(ANO5):c.206_207del (p.Asp69fs) rs1254796261
NM_213599.3(ANO5):c.2415-2A>C rs1230152194
NM_213599.3(ANO5):c.258C>A (p.Tyr86Ter) rs747146523
NM_213599.3(ANO5):c.970del (p.Cys324fs)
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626
NR_003051.4(RMRP):n.97_98dup rs1340624774
NR_003137.3(RNU4-2):n.64_65insT
NR_023343.3(RNU4ATAC):n.40C>T rs139495292
UGT1A1*28 rs3064744

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