ClinVar Miner

List of variants reported as pathogenic by PreventionGenetics, part of Exact Sciences

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ClinVar version:
Total variants: 3108
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
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_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885 0.00569
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00502
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp) rs137852860 0.00490
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_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_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
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_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 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_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549 0.00252
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
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_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
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_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00156
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_003060.4(SLC22A5):c.-149G>A rs57262206 0.00144
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_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000065.5(C6):c.821del (p.Gln274fs) rs557023458 0.00131
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168 0.00108
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
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_004646.4(NPHS1):c.121_122del (p.Leu41fs) rs386833873 0.00089
NM_000587.4(C7):c.405del (p.Asn136fs) rs139491301 0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
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_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_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_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 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_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg) rs561633150 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_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
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_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 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_014324.6(AMACR):c.154T>C (p.Ser52Pro) rs121917814 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_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_080860.4(RSPH1):c.275-2A>C rs151107532 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter) rs121908002 0.00035
NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter) rs137853159 0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_005689.4(ABCB6):c.376del (p.Val126fs) rs377591749 0.00033
NM_000129.4(F13A1):c.1984C>T (p.Arg662Ter) rs267606789 0.00032
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819 0.00032
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter) rs147837686 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs) rs1553277702 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 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_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs) rs72549380 0.00024
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_000066.4(C8B):c.271C>T (p.Gln91Ter) rs146187042 0.00023
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter) rs370032864 0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_003085.5(SNCB):c.368C>A (p.Pro123His) rs104893937 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_001305581.2(LRMDA):c.150dup (p.Ala51fs) rs587776953 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter) rs72650699 0.00019
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) rs142859678 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter) rs141458677 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588 0.00018
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
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_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_006214.4(PHYH):c.135-2A>G rs201578674 0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 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_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780 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_006556.4(PMVK):c.79G>T (p.Glu27Ter) rs373000976 0.00016
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 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_000159.4(GCDH):c.1240G>A (p.Glu414Lys) rs147611168 0.00014
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 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_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000717.5(CA4):c.40C>T (p.Arg14Trp) rs104894559 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 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_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter) rs138923214 0.00013
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter) rs121434233 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys) rs374514431 0.00012
NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln) rs139715157 0.00012
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val) rs113994022 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) rs111033383 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_000283.4(PDE6B):c.1540del (p.Leu514fs) rs398123298 0.00011
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001025356.3(ANO6):c.1387-1G>T rs374664255 0.00011
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp) rs150046661 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 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_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 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_001194998.2(CEP152):c.3249del (p.Val1084fs) rs754267846 0.00010
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr) rs374270497 0.00010
NM_006371.5(CRTAP):c.471+2C>A rs137853943 0.00010
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu) rs202003795 0.00010
NM_020812.4(DOCK6):c.3190_3191del (p.Leu1064fs) rs747575528 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_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
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_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His) rs72558200 0.00009
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_002979.5(SCP2):c.825+1G>T rs144132787 0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu) rs121434410 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003 0.00008
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) rs121965075 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) rs149244943 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228 0.00008
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_003041.4(SLC5A2):c.500del (p.Gln167fs) rs267607067 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 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_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 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_000282.4(PCCA):c.1284+1G>A rs752761437 0.00007
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg) rs200401846 0.00007
NM_000349.3(STAR):c.64+1G>T rs765968701 0.00007
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000781.3(CYP11A1):c.835del (p.Ile279fs) rs757299093 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00007
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558 0.00007
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly) rs104894425 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 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_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_198239.2(CCN6):c.862_863dup (p.Gln289fs) rs863223286 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.731T>C (p.Ile244Thr) rs121908525 0.00006
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp) rs759396688 0.00006
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996 0.00006
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000071.3(CBS):c.572C>T (p.Thr191Met) rs121964973 0.00006
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166 0.00006
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) rs137852696 0.00006
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 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_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000392.5(ABCC2):c.974C>G (p.Ser325Ter) rs371866713 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001015880.2(PAPSS2):c.121C>T (p.Arg41Ter) rs201203612 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter) rs200693106 0.00006
NM_001282225.2(ADA2):c.1072G>A (p.Gly358Arg) rs45511697 0.00006
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582 0.00006
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val) rs111033609 0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser) rs758100382 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_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003742.4(ABCB11):c.2012-8T>G rs769910565 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_007348.4(ATF6):c.970C>T (p.Arg324Cys) rs761357250 0.00006
NM_014249.4(NR2E3):c.481del (p.Thr161fs) rs759339012 0.00006
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00006
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) rs140039128 0.00006
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) rs121918293 0.00006
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter) rs141263564 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_148919.4(PSMB8):c.224C>T (p.Thr75Met) rs748082671 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) rs766132697 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp) rs139318843 0.00005
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000314.8(PTEN):c.802-2A>T rs587782455 0.00005
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341 0.00005
NM_000500.9(CYP21A2):c.1024C>T (p.Arg342Trp) rs72552755 0.00005
NM_000518.5(HBB):c.316-197C>T rs34451549 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) rs1051249273 0.00005
NM_003322.6(TULP1):c.187G>T (p.Gly63Ter) rs757725696 0.00005
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915 0.00005
NM_012106.4(ARL2BP):c.207+1G>A rs199830550 0.00005
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) rs746531116 0.00005
NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter) rs104894429 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_018238.4(AGK):c.297+2T>C rs765471424 0.00005
NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter) rs368124813 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_033305.3(VPS13A):c.6094C>T (p.Arg2032Ter) rs764376151 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502 0.00005
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg) rs142083484 0.00005
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 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_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000071.3(CBS):c.451G>A (p.Gly151Arg) rs373782713 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000128.4(F11):c.325+1G>A rs140190776 0.00004
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053 0.00004
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000324.3(RHAG):c.157+1G>A rs375508949 0.00004
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282 0.00004
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000350.3(ABCA4):c.1958G>A (p.Arg653His) rs141823837 0.00004
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) rs121912442 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His) rs1351045983 0.00004
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) rs188850202 0.00004
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) rs774258585 0.00004
NM_001041.4(SI):c.1837G>T (p.Glu613Ter) rs201055347 0.00004
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter) rs587780082 0.00004
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln) rs758035631 0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00004
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700 0.00004
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701 0.00004
NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter) rs369742878 0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094 0.00004
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter) rs374340059 0.00004
NM_001376571.1(MADD):c.979C>T (p.Arg327Ter) rs147179561 0.00004
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr) rs587777404 0.00004
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_003052.5(SLC34A1):c.644+1G>A rs201304511 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003906.5(MCM3AP):c.3476_3477del (p.Gln1159fs) rs756431692 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_004366.6(CLCN2):c.1412G>A (p.Arg471His) rs771507094 0.00004
NM_004444.5(EPHB4):c.1054C>T (p.Arg352Ter) rs898898802 0.00004
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00004
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg) rs121908127 0.00004
NM_005276.4(GPD1):c.805C>T (p.Arg269Trp) rs761342764 0.00004
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter) rs137852637 0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 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_012193.4(FZD4):c.313A>G (p.Met105Val) rs80358284 0.00004
NM_014140.4(SMARCAL1):c.863-2A>G rs761546902 0.00004
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_015072.5(TTLL5):c.2132_2135dup (p.Met712fs) rs781415819 0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077 0.00004
NM_017433.5(MYO3A):c.1193C>A (p.Ser398Ter) rs769540160 0.00004
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) rs267606829 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701 0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter) rs749465164 0.00004
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter) rs377046630 0.00004
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val) rs786200938 0.00004
NM_138572.3(TAF8):c.781-1G>A rs371261267 0.00004
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr) rs753307105 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_198076.6(COX20):c.41A>G (p.Lys14Arg) rs1057521790 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.9570+1G>A rs760225886 0.00004
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter) rs566415362 0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu) rs119450944 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000135.4(FANCA):c.3828+1G>C rs1432988639 0.00003
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter) rs370421531 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) rs1200134985 0.00003
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) rs121913632 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000313.4(PROS1):c.77-1G>C rs759677822 0.00003
NM_000317.3(PTS):c.84-291A>G rs1480995114 0.00003
NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp) rs376757912 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) rs121918017 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1680-886A>G rs397508266 0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) rs121908761 0.00003
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_000642.3(AGL):c.2681+1G>A rs201201443 0.00003
NM_000660.7(TGFB1):c.466C>T (p.Arg156Cys) rs200482214 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001010867.4(IBA57):c.316del (p.Thr106fs) rs757794637 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter) rs371100799 0.00003
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter) rs376699648 0.00003
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794 0.00003
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001378609.3(OTOGL):c.574C>T (p.Arg192Ter) rs397514588 0.00003
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) rs781050795 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648 0.00003
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg) rs763782349 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser) rs750102662 0.00003
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala) rs587777222 0.00003
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) rs13447339 0.00003
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_014845.6(FIG4):c.2459+1G>A rs747768373 0.00003
NM_015665.6(AAAS):c.1191dup (p.Glu398fs) rs746305979 0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837 0.00003
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter) rs375548374 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp) rs118203979 0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802 0.00003
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992 0.00003
NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln) rs201326023 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_000018.4(ACADVL):c.1679-6G>A rs113994171 0.00002
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053 0.00002
NM_000048.4(ASL):c.436C>T (p.Arg146Trp) rs199938613 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000094.4(COL7A1):c.7012C>T (p.Arg2338Ter) rs745874032 0.00002
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg) rs367833709 0.00002
NM_000104.4(CYP1B1):c.1330C>T (p.Arg444Ter) rs377049098 0.00002
NM_000128.4(F11):c.1853T>G (p.Ile618Ser) rs281875276 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln) rs750470654 0.00002
NM_000159.4(GCDH):c.553G>A (p.Gly185Arg) rs576948027 0.00002
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) rs121912748 0.00002
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960 0.00002
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569 0.00002
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg) rs764349043 0.00002
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter) rs760429286 0.00002
NM_000443.4(ABCB4):c.2211+1G>A rs794727183 0.00002
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) rs587782681 0.00002
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387 0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) rs78802634 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) rs121918670 0.00002
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_001080.3(ALDH5A1):c.691G>A (p.Glu231Lys) rs751888532 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) rs933169926 0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457 0.00002
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys) rs63751215 0.00002
NM_001244710.2(GFPT1):c.686-2A>G rs1011196447 0.00002
NM_001298.3(CNGA3):c.450-1G>A rs754158805 0.00002
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter) rs749890642 0.00002
NM_001372.4(DNAH9):c.2984del (p.Arg995fs) rs771595064 0.00002
NM_002292.4(LAMB2):c.1477del (p.Cys493fs) rs969481454 0.00002
NM_002292.4(LAMB2):c.3595C>T (p.Arg1199Ter) rs754597019 0.00002
NM_002336.3(LRP6):c.1831C>T (p.Arg611Cys) rs121918313 0.00002
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter) rs104893668 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter) rs121917704 0.00002
NM_005591.4(MRE11):c.659+1G>A rs759130031 0.00002
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter) rs757577162 0.00002
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_006929.5(SKIC2):c.848G>A (p.Trp283Ter) rs751026211 0.00002
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter) rs1206753537 0.00002
NM_015102.5(NPHP4):c.3272del (p.Val1091fs) rs1278089386 0.00002
NM_015909.4(NBAS):c.1749G>A (p.Trp583Ter) rs770446752 0.00002
NM_017613.4(DONSON):c.877C>T (p.Arg293Ter) rs542296982 0.00002
NM_017668.3(NDE1):c.130C>T (p.Arg44Ter) rs747020521 0.00002
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys) rs769266169 0.00002
NM_018668.5(VPS33B):c.1225+5G>C rs398122407 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991 0.00002
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217 0.00002
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675 0.00002
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser) rs1260264247 0.00002
NM_021219.4(JAM2):c.685C>T (p.Arg229Ter) rs781261918 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) rs886039453 0.00002
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 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_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_152281.3(GORAB):c.367G>T (p.Glu123Ter) rs119455951 0.00002
NM_173689.7(CRB2):c.3291_3292del (p.Cys1098fs) rs1064793849 0.00002
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter) rs567106336 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) rs775081992 0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376 0.00002
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470 0.00002
NR_003051.3(RMRP):n.-24_-12dup rs781730798 0.00002
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu) rs118204017 0.00001
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405 0.00001
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter) rs750614500 0.00001
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter) rs137852831 0.00001
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000038.6(APC):c.3149del (p.Ala1050fs) rs730882135 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853 0.00001
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys) rs745364489 0.00001
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024 0.00001
NM_000059.4(BRCA2):c.2092del (p.Leu698fs) rs80359322 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.7115C>G (p.Ser2372Ter) rs80358943 0.00001
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter) rs80359013 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met) rs372010465 0.00001
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) rs201714423 0.00001
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) rs121912801 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000092.5(COL4A4):c.489+1G>A rs1040287646 0.00001
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter) rs759634066 0.00001
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter) rs760063197 0.00001
NM_000094.4(COL7A1):c.5344G>A (p.Gly1782Arg) rs374718902 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.7234C>T (p.Arg2412Ter) rs1342522878 0.00001
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329 0.00001
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys) rs104894142 0.00001
NM_000111.3(SLC26A3):c.614del (p.Leu205fs) rs1264217866 0.00001
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487 0.00001
NM_000128.4(F11):c.755+2T>C rs1220869989 0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000133.4(F9):c.1150C>T (p.Arg384Ter) rs137852261 0.00001
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter) rs779745863 0.00001
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695 0.00001
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter) rs1009850780 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000187.4(HGD):c.1007-2A>T rs1559781702 0.00001
NM_000190.4(HMBS):c.673C>T (p.Arg225Ter) rs1325031228 0.00001
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys) rs137852609 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) rs120074196 0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) rs118204060 0.00001
NM_000237.3(LPL):c.808C>T (p.Arg270Cys) rs118204077 0.00001
NM_000245.4(MET):c.3281A>G (p.His1094Arg) rs121913243 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2513G>A (p.Trp838Ter) rs1334199217 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000275.3(OCA2):c.1555del (p.Val519fs) rs765235945 0.00001
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp) rs76542238 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647 0.00001
NM_000277.3(PAH):c.653G>T (p.Gly218Val) rs62514933 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln) rs145877597 0.00001
NM_000298.6(PKLR):c.1091G>A (p.Gly364Asp) rs981579065 0.00001
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp) rs201255024 0.00001
NM_000301.5(PLG):c.988A>G (p.Lys330Glu) rs889957249 0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter) rs149530060 0.00001
NM_000313.4(PROS1):c.586A>G (p.Lys196Glu) rs121918474 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) rs61752068 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000340.2(SLC2A2):c.157C>T (p.Arg53Ter) rs771477447 0.00001
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) rs779502629 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000388.4(CASR):c.1589G>A (p.Trp530Ter) rs1260540509 0.00001
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) rs59115483 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000443.4(ABCB4):c.139C>T (p.Arg47Ter) rs376926391 0.00001
NM_000443.4(ABCB4):c.3486+1G>A rs764513998 0.00001
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) rs377160065 0.00001
NM_000448.3(RAG1):c.2867T>C (p.Ile956Thr) rs182385524 0.00001
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) rs121912441 0.00001
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val) rs756418235 0.00001
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) rs781264043 0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473 0.00001
NM_000478.6(ALPL):c.648+1G>A rs749544042 0.00001
NM_000478.6(ALPL):c.814C>T (p.Arg272Cys) rs121918020 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter) rs121908810 0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr) rs397508476 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755 0.00001
NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys) rs772900496 0.00001
NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His) rs151344504 0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) rs780803192 0.00001
NM_000508.3(FGA):c.103C>T (p.Arg35Cys) rs121909606 0.00001
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) rs138947766 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp) rs193922867 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.529C>T (p.Arg177Cys) rs193922757 0.00001
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175 0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000550.3(TYRP1):c.418G>T (p.Glu140Ter) rs371209698 0.00001
NM_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter) rs61750606 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000553.6(WRN):c.673C>T (p.Arg225Ter) rs370324188 0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val) rs369448982 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met) rs1358566538 0.00001
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter) rs779858591 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001089.3(ABCA3):c.3863-98C>T rs189077405 0.00001
NM_001114753.3(ENG):c.524-2A>G rs1060501414 0.00001
NM_001126108.2(SLC12A3):c.506-1G>A rs201555148 0.00001
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) rs863225135 0.00001
NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His) rs763468558 0.00001
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076 0.00001
NM_001164508.2(NEB):c.10899G>A (p.Trp3633Ter) rs780343350 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter) rs756363951 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001182.5(ALDH7A1):c.1566-1G>T rs140845195 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs) rs587778791 0.00001
NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter) rs765645888 0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A rs886044841 0.00001
NM_001257180.2(SLC20A2):c.1794+1G>C rs1052304545 0.00001
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter) rs374107286 0.00001
NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln) rs1553609210 0.00001
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys) rs367757240 0.00001
NM_001354712.2(THRB):c.727C>T (p.Arg243Trp) rs121918707 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001365276.2(TNXB):c.8995del (p.Arg2999fs) rs750030373 0.00001
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter) rs121918370 0.00001
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs) rs1554064102 0.00001
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter) rs199422219 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762 0.00001
NM_001918.5(DBT):c.434-15_434-4del rs727503895 0.00001
NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln) rs724159946 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) rs786205135 0.00001
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_002693.3(POLG):c.3483-4_3497del rs756325504 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002890.3(RASA1):c.2365C>T (p.Arg789Ter) rs1463885690 0.00001
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906 0.00001
NM_003119.4(SPG7):c.988-1G>A rs748309520 0.00001
NM_003681.5(PDXK):c.682G>A (p.Ala228Thr) rs757480516 0.00001
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) rs1060499579 0.00001
NM_003850.3(SUCLA2):c.1219C>T (p.Arg407Trp) rs1233249991 0.00001
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val) rs771966860 0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873 0.00001
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) rs778207102 0.00001
NM_004183.4(BEST1):c.860G>A (p.Trp287Ter) rs753334817 0.00001
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp) rs137853232 0.00001
NM_004425.4(ECM1):c.507del (p.Arg171fs) rs869025565 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005208.5(CRYBA1):c.215+1G>A rs1264025914 0.00001
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp) rs281860303 0.00001
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser) rs864309688 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg) rs137854494 0.00001
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys) rs59856285 0.00001
NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter) rs587781904 0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs) rs778391726 0.00001
NM_006204.4(PDE6C):c.939+2T>G rs1328017393 0.00001
NM_006282.5(STK4):c.349C>T (p.Arg117Ter) rs387907316 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_006567.5(FARS2):c.646C>T (p.Gln216Ter) rs1057523346 0.00001
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter) rs797045947 0.00001
NM_006767.4(LZTR1):c.1587C>A (p.Tyr529Ter) rs371015800 0.00001
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln) rs781431741 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_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) rs121918540 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007214.5(SEC63):c.2006_2007del (p.His669fs) rs1403483213 0.00001
NM_007217.4(PDCD10):c.283C>T (p.Arg95Ter) rs1357917630 0.00001
NM_007217.4(PDCD10):c.474+5G>A rs1553759139 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp) rs80356741 0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00001
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter) rs773049314 0.00001
NM_014714.4(IFT140):c.1501C>T (p.Arg501Ter) rs1424099914 0.00001
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) rs770731272 0.00001
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter) rs121908288 0.00001
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln) rs863224923 0.00001
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter) rs1025515771 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) rs267607042 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_016180.5(SLC45A2):c.533_534dup (p.Gly179fs) rs757344228 0.00001
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter) rs746278774 0.00001
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) rs781546107 0.00001
NM_016277.5(RAB23):c.408dup (p.Glu137Ter) rs1438138090 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys) rs1247438528 0.00001
NM_017739.4(POMGNT1):c.1110+1G>A rs1657940058 0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622 0.00001
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter) rs371595543 0.00001
NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter) rs374351172 0.00001
NM_018965.4(TREM2):c.377T>G (p.Val126Gly) rs121908402 0.00001
NM_019892.6(INPP5E):c.1629C>G (p.Tyr543Ter) rs753398503 0.00001
NM_020166.5(MCCC1):c.1681+2T>C rs1333994006 0.00001
NM_020661.4(AICDA):c.334C>T (p.Arg112Cys) rs1057520542 0.00001
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) rs397517342 0.00001
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter) rs544500542 0.00001
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) rs1423753702 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter) rs180177103 0.00001
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter) rs764509489 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 0.00001
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) rs786204575 0.00001
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser) rs774456344 0.00001
NM_025099.6(CTC1):c.670C>T (p.Arg224Ter) rs1169567839 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter) rs1417251616 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_025137.4(SPG11):c.7138G>T (p.Glu2380Ter) rs369467143 0.00001
NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs) rs786200876 0.00001
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) rs755800734 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226 0.00001
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter) rs747604569 0.00001
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter) rs121434508 0.00001
NM_032305.3(POLR3GL):c.-41-1G>A rs782661984 0.00001
NM_032305.3(POLR3GL):c.358C>T (p.Arg120Ter) rs1401599439 0.00001
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_033453.4(ITPA):c.532C>T (p.Arg178Cys) rs746930990 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_052845.4(MMAB):c.523G>T (p.Gly175Ter) rs758790126 0.00001
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874 0.00001
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) rs119466000 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404 0.00001
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys) rs777158800 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg) rs886061616 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_144672.4(OTOA):c.1880+1G>A rs148690740 0.00001
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529 0.00001
NM_145261.4(DNAJC19):c.130-1G>C rs137854888 0.00001
NM_145868.2(ANXA11):c.119A>G (p.Asp40Gly) rs1247392012 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088 0.00001
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) rs876657725 0.00001
NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter) rs778155409 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) rs57830985 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_173660.5(DOK7):c.331+1G>T rs1349476281 0.00001
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_194454.3(KRIT1):c.2026-12A>G rs1041438637 0.00001
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter) rs998200637 0.00001
NM_198428.3(BBS9):c.263+1G>A rs137962929 0.00001
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln) rs398122403 0.00001
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys) rs1424639717 0.00001
NM_213599.3(ANO5):c.2470del (p.Gln824fs) rs770694933 0.00001
NC_000018.9:g.77733765C>A rs727502793
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000017.4(ACADS):c.826del (p.Ala276fs)
NM_000018.4(ACADVL):c.1317dup (p.Met440fs) rs1567567440
NM_000018.4(ACADVL):c.1429del (p.Cys477fs)
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs) rs1597520263
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000018.4(ACADVL):c.869dup (p.Ile291fs) rs886044671
NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter) rs2139075900
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000033.4(ABCD1):c.1159del (p.Ile387fs)
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.488G>C (p.Arg163Pro) rs1057517954
NM_000033.4(ABCD1):c.668_669del (p.Ala223fs)
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.893G>A (p.Gly298Asp)
NM_000033.4(ABCD1):c.978G>A (p.Trp326Ter)
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000037.4(ANK1):c.1519dup (p.Leu507fs) rs397514029
NM_000037.4(ANK1):c.1775del (p.Gly592fs)
NM_000037.4(ANK1):c.1915del (p.Leu639fs)
NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter) rs2150593517
NM_000037.4(ANK1):c.3476_3477insAG (p.Arg1160fs)
NM_000037.4(ANK1):c.4520C>A (p.Ser1507Ter)
NM_000037.4(ANK1):c.498C>G (p.Tyr166Ter)
NM_000037.4(ANK1):c.5044C>T (p.Arg1682Ter)
NM_000038.6(APC):c.1095del (p.Asp366fs)
NM_000038.6(APC):c.1312+1G>C
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1408+1330del
NM_000038.6(APC):c.1743+1G>A rs761458613
NM_000038.6(APC):c.233_236del (p.Asp78fs) rs1064793020
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.3810T>A (p.Cys1270Ter) rs863225347
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter) rs398123121
NM_000038.6(APC):c.4506T>A (p.Cys1502Ter)
NM_000038.6(APC):c.5572C>T (p.Arg1858Ter) rs1270783041
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) rs587781330
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.790C>T (p.Gln264Ter)
NM_000043.6(FAS):c.528G>A (p.Trp176Ter) rs866771343
NM_000044.6(AR):c.1531A>T (p.Arg511Ter)
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys) rs1925886715
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000044.6(AR):c.2743del (p.Ile915fs)
NM_000045.4(ARG1):c.129del (p.Glu44fs) rs1169538148
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.2250+1G>A rs1565395193
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.4410T>G (p.Tyr1470Ter)
NM_000051.4(ATM):c.4612-3_4616del rs773012957
NM_000051.4(ATM):c.4929del (p.Met1644fs) rs2083175858
NM_000051.4(ATM):c.6177dup (p.Arg2060fs) rs1591779373
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs) rs1565520117
NM_000051.4(ATM):c.6920_6923del (p.Leu2307fs) rs1064793043
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.8635_8636del (p.Ile2878_Asn2879insTer)
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs) rs1555143538
NM_000053.4(ATP7B):c.1543+1G>T rs1360279134
NM_000053.4(ATP7B):c.2139C>G (p.Tyr713Ter)
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln) rs28942074
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000054.7(AVPR2):c.46_61del (p.Leu16fs)
NM_000054.7(AVPR2):c.809_810del (p.Val270fs) rs2064966689
NM_000057.4(BLM):c.1544del (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs) rs397515635
NM_000059.4(BRCA2):c.1794_1798del rs276174813
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter) rs80358504
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.3344del (p.Ser1115fs) rs1135401900
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4030_4035delinsC (p.Asn1344fs) rs886040509
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter) rs80358663
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter) rs80358683
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.475+1G>T rs81002797
NM_000059.4(BRCA2):c.505_506del (p.Lys169fs)
NM_000059.4(BRCA2):c.5195del (p.Leu1732fs) rs587779363
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer) rs80359496
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs) rs80359554
NM_000059.4(BRCA2):c.6034dup (p.Ser2012fs) rs397507823
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs) rs276174868
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.6580del (p.Ile2194fs)
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.733A>T (p.Arg245Ter) rs80358959
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter) rs786202796
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.998dup (p.His334fs) rs397507437
NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter) rs922149386
NM_000062.3(SERPING1):c.778G>T (p.Glu260Ter)
NM_000065.5(C6):c.1879_1881delinsAT (p.Asp627fs)
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter) rs867425110
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) rs727503839
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.946-2A>G rs1595826673
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) rs730881674
NM_000077.5(CDKN2A):c.35C>A (p.Ser12Ter) rs141798398
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs) rs1156634884
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter) rs918839874
NM_000081.4(LYST):c.10459C>T (p.Gln3487Ter)
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val) rs66494876
NM_000088.4(COL1A1):c.1354-1G>T
NM_000088.4(COL1A1):c.1678G>T (p.Gly560Cys) rs67507747
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.2028+2T>A
NM_000088.4(COL1A1):c.2084del (p.Gly695fs) rs72651641
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.4(COL1A1):c.2444G>C (p.Gly815Ala) rs66929517
NM_000088.4(COL1A1):c.2523del (p.Gly842fs) rs72653133
NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser) rs1567755602
NM_000088.4(COL1A1):c.2990del (p.Pro997fs) rs1598288648
NM_000088.4(COL1A1):c.3064G>A (p.Gly1022Ser) rs66523073
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2]) rs74315111
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly) rs74315111
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs) rs72654794
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser) rs72654802
NM_000088.4(COL1A1):c.3897C>G (p.Cys1299Trp) rs34940368
NM_000088.4(COL1A1):c.4321G>T (p.Asp1441Tyr) rs72656351
NM_000088.4(COL1A1):c.432dup (p.Gly145fs) rs72667016
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000089.4(COL1A2):c.3070G>A (p.Gly1024Arg) rs2115954840
NM_000089.4(COL1A2):c.632G>A (p.Gly211Asp) rs72656378
NM_000090.4(COL3A1):c.1347+1G>A rs397509370
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.4(COL3A1):c.1869+1G>C rs587779600
NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp) rs587779593
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val) rs1315862965
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000092.5(COL4A4):c.1143_1144del (p.Asp383fs) rs2150739953
NM_000092.5(COL4A4):c.2219dup (p.Val741fs) rs141127013
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000093.5(COL5A1):c.1041C>A (p.Tyr347Ter)
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.4182_4188dup (p.Ala1397fs)
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg) rs1057517724
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.4(COL7A1):c.6017G>A (p.Gly2006Asp) rs121912842
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) rs121912844
NM_000094.4(COL7A1):c.6100G>T (p.Gly2034Trp)
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg) rs2107671960
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser) rs2107661505
NM_000094.4(COL7A1):c.7096G>T (p.Gly2366Cys)
NM_000094.4(COL7A1):c.7621C>T (p.Arg2541Ter) rs2107641787
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val) rs759949767
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu) rs2107631988
NM_000096.4(CP):c.1991_1992del (p.Thr664fs)
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000097.7(CPOX):c.127_131dup (p.Gly45fs) rs786205053
NM_000098.3(CPT2):c.340+1G>C
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000101.4(CYBA):c.268C>G (p.Arg90Gly) rs179363892
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs) rs1844105842
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
NM_000104.4(CYP1B1):c.535del (p.Ala179fs) rs771076928
NM_000110.4(DPYD):c.321+1G>A
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000123.4(ERCC5):c.264+1del
NM_000124.4(ERCC6):c.2709+1G>T rs1850818899
NM_000126.4(ETFA):c.495_496del (p.Ser167fs) rs1298299792
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter) rs1563873580
NM_000127.3(EXT1):c.1884-2A>G
NM_000127.3(EXT1):c.1952del (p.Asn651fs)
NM_000127.3(EXT1):c.202dup (p.Trp68fs)
NM_000127.3(EXT1):c.335del (p.Asn112fs)
NM_000127.3(EXT1):c.713del (p.Ser238fs) rs2130042099
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000129.4(F13A1):c.1305+1G>A
NM_000129.4(F13A1):c.521del (p.Ser174fs)
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.923C>T (p.Ser308Leu) rs137852404
NM_000133.4(F9):c.1293G>A (p.Trp431Ter)
NM_000133.4(F9):c.277+1G>T
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer) rs1403231932
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys) rs1555400595
NM_000138.5(FBN1):c.2768dup (p.Asn923fs) rs1597567246
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.4210+1G>A rs730880106
NM_000138.5(FBN1):c.4405del (p.Arg1469fs) rs794728308
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6936del (p.Ser2313fs)
NM_000138.5(FBN1):c.7004_7020del (p.Arg2335fs)
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter) rs886038797
NM_000140.5(FECH):c.901_902del (p.Trp301fs) rs1430926156
NM_000141.5(FGFR2):c.1070T>C (p.Leu357Ser) rs2134254345
NM_000141.5(FGFR2):c.1084+1G>A
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp) rs387906678
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.5(FGFR2):c.1977G>C (p.Lys659Asn) rs1589722765
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys) rs121913103
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000146.4(FTL):c.-168G>T rs398124635
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000156.6(GAMT):c.134G>A (p.Trp45Ter)
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000159.4(GCDH):c.1173dup (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter) rs776082304
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter) rs1970564107
NM_000161.3(GCH1):c.614T>A (p.Val205Glu) rs1418922853
NM_000162.5(GCK):c.1106G>C (p.Arg369Pro)
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.1253+1G>A
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1322C>G (p.Ser441Trp) rs1286804191
NM_000162.5(GCK):c.292C>T (p.Gln98Ter)
NM_000162.5(GCK):c.364-1G>C
NM_000165.5(GJA1):c.689_690del (p.Tyr230fs) rs1582558514
NM_000166.6(GJB1):c.101T>C (p.Met34Thr) rs1060500998
NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter) rs121917709
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.3(GLA):c.1095T>G (p.Tyr365Ter)
NM_000169.3(GLA):c.124A>G (p.Met42Val) rs797044613
NM_000169.3(GLA):c.272T>C (p.Ile91Thr) rs869312141
NM_000169.3(GLA):c.816C>A (p.Asn272Lys)
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter) rs386833557
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs) rs763978422
NM_000179.3(MSH6):c.1519dup (p.Arg507fs) rs876658881
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs) rs1060502886
NM_000179.3(MSH6):c.1842del (p.Cys615fs) rs730881825
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.3(MSH6):c.2964dup (p.Asn989fs) rs587781659
NM_000179.3(MSH6):c.3076del (p.Asp1026fs)
NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter) rs1114167707
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.3(MSH6):c.3609_3612del (p.His1203fs) rs587779274
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs) rs193922343
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000181.4(GUSB):c.581+1G>A
NM_000183.3(HADHB):c.739C>T (p.Arg247Cys)
NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs) rs1057517081
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) rs118204120
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter) rs781213951
NM_000203.5(IDUA):c.1759C>T (p.Gln587Ter)
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) rs758049059
NM_000207.2(INS):c.-152C>A rs748749585
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.1459_1460del (p.Asp487fs)
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.2583dup (p.Pro862fs)
NM_000214.3(JAG1):c.2690_2694dup (p.Pro899fs)
NM_000214.3(JAG1):c.2728G>T (p.Glu910Ter)
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter) rs876660980
NM_000216.4(ANOS1):c.1A>G (p.Met1Val) rs606231409
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu) rs121912531
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.4(MLH1):c.1855del (p.Ala619fs) rs63749986
NM_000249.4(MLH1):c.1989+1G>T rs267607879
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.4(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg) rs63750961
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter) rs587779136
NM_000251.3(MSH2):c.2245G>T (p.Glu749Ter) rs63751477
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000252.3(MTM1):c.490_493dup (p.Thr165fs)
NM_000254.3(MTR):c.2799_2803del (p.Ala935fs)
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1458-1G>A rs397515903
NM_000256.3(MYBPC3):c.162del (p.Lys54fs) rs864622224
NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter)
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter) rs863225112
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000264.5(PTCH1):c.1603-2A>G rs1064793921
NM_000264.5(PTCH1):c.2287del (p.Val763fs)
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup) rs1588568813
NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter) rs1060502301
NM_000264.5(PTCH1):c.745del (p.Leu248_Leu249insTer)
NM_000268.4(NF2):c.240+1G>A rs587776562
NM_000268.4(NF2):c.431dup (p.Tyr144Ter) rs2065831369
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
NM_000273.3(GPR143):c.162_198del (p.Ala55fs)
NM_000273.3(GPR143):c.886-2A>T rs2146684328
NM_000275.3(OCA2):c.172C>T (p.Gln58Ter)
NM_000275.3(OCA2):c.2014_2016delinsT (p.Ile672fs)
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs) rs1595660890
NM_000275.3(OCA2):c.2055del (p.Phe685fs) rs772595552
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs) rs771620099
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.808-3C>G
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000276.4(OCRL):c.260del (p.Gln87fs)
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000278.5(PAX2):c.219C>G (p.Tyr73Ter) rs139724326
NM_000278.5(PAX2):c.418C>T (p.Arg140Trp) rs1217241110
NM_000278.5(PAX2):c.722del (p.Leu241fs)
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000282.4(PCCA):c.1298del (p.Ser433fs)
NM_000282.4(PCCA):c.866_867del (p.Glu289fs) rs760976198
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000293.3(PHKB):c.2896-1G>T
NM_000293.3(PHKB):c.3124del (p.Arg1041_Leu1042insTer)
NM_000294.3(PHKG2):c.698T>C (p.Phe233Ser)
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter) rs1578135870
NM_000297.4(PKD2):c.1508del (p.Phe503fs)
NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs) rs1553926529
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2210del (p.Asn737fs)
NM_000297.4(PKD2):c.2435_2436del (p.Asp811_Ser812insTer)
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter) rs757682666
NM_000297.4(PKD2):c.253C>T (p.Gln85Ter)
NM_000297.4(PKD2):c.2548dup (p.Glu850fs)
NM_000297.4(PKD2):c.2770C>T (p.Gln924Ter)
NM_000297.4(PKD2):c.763C>T (p.Gln255Ter)
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln) rs1727420867
NM_000298.6(PKLR):c.826del (p.Val276fs) rs754939638
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000312.4(PROC):c.185A>C (p.Glu62Ala) rs121918148
NM_000314.8(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.509G>T (p.Ser170Ile) rs876660507
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.8(PTEN):c.634+1G>C rs1114167622
NM_000314.8(PTEN):c.655C>T (p.Gln219Ter)
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr) rs786201995
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.8(PTEN):c.882_895del (p.Ser294fs)
NM_000314.8(PTEN):c.919G>T (p.Glu307Ter) rs746930141
NM_000320.3(QDPR):c.105+2T>A
NM_000321.3(RB1):c.1147C>T (p.Gln383Ter) rs1131690846
NM_000321.3(RB1):c.1215+1G>C
NM_000321.3(RB1):c.2486C>G (p.Ser829Ter)
NM_000321.3(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.3(RB1):c.735del (p.Ile246fs) rs1131690847
NM_000330.4(RS1):c.208G>A (p.Gly70Ser) rs62645894
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs) rs794728917
NM_000341.4(SLC3A1):c.1108C>T (p.Gln370Ter)
NM_000341.4(SLC3A1):c.1221dup (p.Pro408fs)
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) rs121912744
NM_000346.4(SOX9):c.164dup (p.Glu57fs)
NM_000350.3(ABCA4):c.4253+5G>T rs61750138
NM_000350.3(ABCA4):c.470T>A (p.Leu157Ter) rs953605928
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000352.6(ABCC8):c.2117-2A>G
NM_000352.6(ABCC8):c.2117-2A>T rs1476853180
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter) rs758231286
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter)
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) rs397516353
NM_000368.5(TSC1):c.1416del (p.Ser472fs)
NM_000368.5(TSC1):c.1527dup (p.Asp510fs)
NM_000368.5(TSC1):c.1574_1584delinsTTTCCAAGGG (p.Ser525fs)
NM_000368.5(TSC1):c.2023del (p.Asp675fs) rs118203620
NM_000368.5(TSC1):c.2282dup (p.Tyr761Ter)
NM_000368.5(TSC1):c.2299C>T (p.Gln767Ter) rs118203675
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter) rs1447417010
NM_000368.5(TSC1):c.433C>T (p.Gln145Ter) rs118203382
NM_000371.4(TTR):c.206C>T (p.Thr69Ile) rs1555631387
NM_000372.5(TYR):c.1353T>G (p.Tyr451Ter)
NM_000372.5(TYR):c.1424_1433del (p.Trp475fs) rs1402167763
NM_000372.5(TYR):c.573del (p.Ser192fs)
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000374.5(UROD):c.943-1G>A
NM_000377.3(WAS):c.121C>T (p.Arg41Ter) rs11545907
NM_000377.3(WAS):c.1453+1G>A
NM_000377.3(WAS):c.256C>T (p.Arg86Cys) rs2062412810
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.1468C>T (p.Arg490Trp) rs771541567
NM_000387.6(SLC25A20):c.326+1del rs757552268
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp) rs748394731
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter) rs2107632822
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) rs104893712
NM_000388.4(CASR):c.2770_2777del (p.Phe924fs)
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) rs28936684
NM_000390.4(CHM):c.130G>T (p.Gly44Ter) rs886041175
NM_000390.4(CHM):c.1363del (p.Ala455fs) rs1926208067
NM_000390.4(CHM):c.1511-1G>A
NM_000392.5(ABCC2):c.156T>A (p.Tyr52Ter) rs1554845888
NM_000392.5(ABCC2):c.2414del (p.Gly805fs)
NM_000392.5(ABCC2):c.3615-2A>T
NM_000392.5(ABCC2):c.3928C>T (p.Arg1310Ter)
NM_000397.4(CYBB):c.217C>T (p.Arg73Ter) rs137854588
NM_000397.4(CYBB):c.720_724del (p.Ile241fs)
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) rs780786843
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) rs58852768
NM_000424.4(KRT5):c.1649del (p.Gly550fs) rs61126080
NM_000424.4(KRT5):c.482T>G (p.Ile161Ser) rs58058996
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) rs57499817
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs) rs768458445
NM_000429.3(MAT1A):c.776C>T (p.Ala259Val) rs138556525
NM_000431.4(MVK):c.560_561del (p.Lys187fs)
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000434.4(NEU1):c.69G>A (p.Trp23Ter) rs104893986
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr) rs1555730176
NM_000435.3(NOTCH3):c.3011G>A (p.Cys1004Tyr) rs1555727944
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.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr) rs1555729486
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys) rs947976672
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641
NM_000441.1(SLC26A4):c.1342-2_1343dup rs111033407
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs) rs753104429
NM_000443.4(ABCB4):c.1371del (p.Gln458fs)
NM_000443.4(ABCB4):c.286+1G>A
NM_000443.4(ABCB4):c.3633+1G>T rs1245472904
NM_000444.6(PHEX):c.1105A>T (p.Arg369Ter) rs1930963832
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.958A>T (p.Lys320Ter)
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) rs764981110
NM_000451.4(SHOX):c.442G>T (p.Glu148Ter)
NM_000453.3(SLC5A5):c.1593C>G (p.Tyr531Ter) rs121909177
NM_000454.5(SOD1):c.131A>G (p.His44Arg) rs121912435
NM_000454.5(SOD1):c.280G>A (p.Gly94Ser)
NM_000454.5(SOD1):c.319C>G (p.Leu107Val) rs121912440
NM_000458.4(HNF1B):c.544+1G>T
NM_000458.4(HNF1B):c.785_786del (p.Glu262fs)
NM_000458.4(HNF1B):c.826C>G (p.Arg276Gly)
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser) rs755218546
NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs) rs797046090
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs) rs748219743
NM_000463.3(UGT1A1):c.615del (p.Phe206fs)
NM_000465.4(BARD1):c.646del (p.Gln216fs) rs1553622542
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter) rs1232449804
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000475.5(NR0B1):c.1069del (p.Gln357fs)
NM_000475.5(NR0B1):c.1273A>G (p.Arg425Gly)
NM_000475.5(NR0B1):c.670C>T (p.Gln224Ter)
NM_000475.5(NR0B1):c.702del (p.Trp235fs)
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys) rs1057517173
NM_000478.6(ALPL):c.1474del (p.Ala492fs) rs1558558976
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.500C>T (p.Thr167Met) rs1408325840
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) rs281865161
NM_000488.4(SERPINC1):c.277del (p.Thr93fs)
NM_000488.4(SERPINC1):c.41+2T>C
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000490.5(AVP):c.164C>T (p.Pro55Leu)
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs) rs121908780
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe) rs77646904
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) rs76554633
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly) rs397508272
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2490+1G>T rs141158996
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter) rs397508394
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000494.4(COL17A1):c.3613_3616del (p.Leu1205fs)
NM_000494.4(COL17A1):c.4145_4148del (p.Glu1382fs) rs765243124
NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter) rs74315489
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs) rs1256580853
NM_000497.4(CYP11B1):c.1486del (p.Leu496fs) rs1554652528
NM_000500.9(CYP21A2):c.1226G>T (p.Arg409Leu)
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.233T>C (p.Ile78Thr)
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.1697del (p.Ala566fs)
NM_000501.4(ELN):c.2058del (p.Gly688fs) rs886039351
NM_000501.4(ELN):c.800-1G>A rs2131847938
NM_000503.6(EYA1):c.1360+5G>A
NM_000503.6(EYA1):c.602C>G (p.Ser201Ter) rs1563423589
NM_000503.6(EYA1):c.717T>G (p.Tyr239Ter)
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) rs1131691667
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) rs121909195
NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs) rs1057517733
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser) rs1444754604
NM_000512.5(GALNS):c.405_422+1del rs398123437
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)
NM_000516.7(GNAS):c.124C>T (p.Arg42Cys)
NM_000516.7(GNAS):c.312+5G>A rs2146179050
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln) rs1555891584
NM_000516.7(GNAS):c.82A>T (p.Lys28Ter)
NM_000517.6(HBA2):c.99G>A (p.Met33Ile) rs41515552
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_000523.4(HOXD13):c.186_212dup (p.Ala63_Ala71dup) rs760539494
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) rs60399023
NM_000526.5(KRT14):c.374G>A (p.Arg125His) rs58330629
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1020C>A (p.Cys340Ter)
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1492_1493del (p.Val498fs) rs2077419354
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter) rs879254981
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp) rs879255109
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.5(LDLR):c.818-2A>G
NM_000531.6(OTC):c.596A>T (p.Asn199Ile)
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter) rs1060503138
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.2041C>T (p.Gln681Ter) rs1782465728
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2156del (p.Gln719fs) rs786201062
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) rs148508754
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000539.3(RHO):c.151G>C (p.Gly51Arg) rs104893792
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.11320dup (p.Ala3774fs) rs768698639
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.13220del (p.Gly4407fs) rs1568583728
NM_000540.3(RYR1):c.13437+1G>A rs1568584452
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys) rs118192133
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala) rs118192166
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.13919T>G (p.Met4640Arg) rs1568594068
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr) rs118192154
NM_000540.3(RYR1):c.14869-1G>T rs193922897
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu) rs193922772
NM_000540.3(RYR1):c.1982G>A (p.Trp661Ter) rs748492214
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter) rs878854365
NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter) rs758925580
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) rs121918596
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His) rs28933396
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) rs1801086
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.7523G>A (p.Arg2508His) rs193922818
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter) rs1057518773
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter) rs1171637302
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs) rs398123476
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) rs786204506
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1364_1368del (p.Ser455fs)
NM_000545.8(HNF1A):c.1766_1767del (p.Thr589fs)
NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln) rs1172328722
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln) rs1057520779
NM_000545.8(HNF1A):c.943del (p.Ser315fs)
NM_000546.6(TP53):c.1015G>T (p.Glu339Ter) rs17882252
NM_000546.6(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.626_627del (p.Arg209fs) rs1057517840
NM_000546.6(TP53):c.702C>A (p.Tyr234Ter)
NM_000546.6(TP53):c.779_782+13del
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer) rs2073171970
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter) rs45457701
NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter) rs45517220
NM_000548.5(TSC2):c.226-1G>A rs397515134
NM_000548.5(TSC2):c.2587G>T (p.Glu863Ter)
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3337dup (p.Glu1113fs) rs397515144
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter) rs137854253
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) rs1555512486
NM_000548.5(TSC2):c.4672G>T (p.Glu1558Ter) rs45517360
NM_000548.5(TSC2):c.4779C>G (p.Tyr1593Ter) rs45517368
NM_000548.5(TSC2):c.4849+1G>T rs45517375
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter) rs45517140
NM_000548.5(TSC2):c.976-15G>A rs45517150
NM_000550.3(TYRP1):c.176C>G (p.Ser59Ter)
NM_000551.4(VHL):c.208G>T (p.Glu70Ter) rs5030802
NM_000551.4(VHL):c.217C>T (p.Gln73Ter) rs869025619
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.4(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.4(VHL):c.329del (p.His110fs) rs1559426199
NM_000551.4(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.4(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.4(VHL):c.408del (p.Phe136fs) rs397516442
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.4(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000552.5(VWF):c.1093C>T (p.Arg365Ter) rs61754003
NM_000552.5(VWF):c.2438dup (p.Met814fs)
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4176del (p.Met1393fs)
NM_000552.5(VWF):c.6798+1G>T rs61750624
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.5(VWF):c.8419_8422dup (p.Pro2808fs)
NM_000612.6(IGF2):c.157+5G>A
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg) rs1592380743
NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr) rs1414742926
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000789.4(ACE):c.3503+1G>A
NM_000789.4(ACE):c.3521del (p.Gly1174fs) rs754265941
NM_000789.4(ACE):c.444_445insTTAGC (p.Arg149fs) rs778759606
NM_000821.7(GGCX):c.944G>A (p.Trp315Ter)
NM_000834.5(GRIN2B):c.2459G>T (p.Gly820Val) rs797044849
NM_000860.6(HPGD):c.310_311del (p.Leu104fs) rs587777719
NM_000892.5(KLKB1):c.451dup (p.Ser151fs) rs560588447
NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter) rs1131691921
NM_000901.5(NR3C2):c.2799+1G>A
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_001002295.2(GATA3):c.431dup (p.His145fs) rs1588377948
NM_001003694.2(BRPF1):c.789del (p.Gly264fs)
NM_001003841.3(SLC6A19):c.1173+2T>G rs142979576
NM_001005242.3(PKP2):c.1125_1132del (p.Phe376fs) rs794729124
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His) rs2111857835
NM_001008537.3(NEXMIF):c.3166_3175del (p.Ser1056fs)
NM_001009944.3(PKD1):c.10140_10143del (p.Phe3380fs)
NM_001009944.3(PKD1):c.1021dup (p.Ala341fs)
NM_001009944.3(PKD1):c.10397C>G (p.Ser3466Ter)
NM_001009944.3(PKD1):c.10619-2A>G
NM_001009944.3(PKD1):c.10966del (p.Leu3656fs)
NM_001009944.3(PKD1):c.11033del (p.Met3678fs) rs1555446637
NM_001009944.3(PKD1):c.11235dup (p.Pro3746fs)
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.11270-25_11316del
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) rs1567153758
NM_001009944.3(PKD1):c.11386dup (p.Ala3796fs)
NM_001009944.3(PKD1):c.11454del (p.Tyr3819fs) rs2091600536
NM_001009944.3(PKD1):c.11552_11557del (p.Phe3851_Glu3853delinsTer)
NM_001009944.3(PKD1):c.11713-2A>G rs1555445274
NM_001009944.3(PKD1):c.11729_11747del (p.Phe3910fs)
NM_001009944.3(PKD1):c.11773G>T (p.Glu3925Ter)
NM_001009944.3(PKD1):c.11805dup (p.Trp3936fs)
NM_001009944.3(PKD1):c.12382G>T (p.Glu4128Ter)
NM_001009944.3(PKD1):c.12386TGG[1] (p.Val4130del)
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter) rs2091395464
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12739C>T (p.Gln4247Ter)
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys) rs750798165
NM_001009944.3(PKD1):c.1584del (p.Ser527_Tyr528insTer)
NM_001009944.3(PKD1):c.1589G>A (p.Cys530Tyr)
NM_001009944.3(PKD1):c.1663G>T (p.Gly555Ter)
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs) rs1448641464
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs) rs1567204146
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) rs1057518899
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.3802C>T (p.Gln1268Ter)
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter) rs1567201083
NM_001009944.3(PKD1):c.4230C>A (p.Tyr1410Ter)
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter) rs1238351274
NM_001009944.3(PKD1):c.4745G>A (p.Trp1582Ter)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter)
NM_001009944.3(PKD1):c.5553_5557del (p.Val1852fs)
NM_001009944.3(PKD1):c.5824dup (p.Arg1942fs)
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter) rs2151790199
NM_001009944.3(PKD1):c.6184C>T (p.Gln2062Ter) rs750843149
NM_001009944.3(PKD1):c.6281G>A (p.Trp2094Ter)
NM_001009944.3(PKD1):c.6504C>A (p.Tyr2168Ter)
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs) rs1567192623
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
NM_001009944.3(PKD1):c.7066-2A>G
NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln) rs2092344562
NM_001009944.3(PKD1):c.7422del (p.Ser2475fs)
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.7672C>T (p.Gln2558Ter)
NM_001009944.3(PKD1):c.78_96dup (p.Cys33fs)
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter) rs1567182193
NM_001009944.3(PKD1):c.8017-3C>G
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8925dup (p.Tyr2976fs)
NM_001009944.3(PKD1):c.9040dup (p.Leu3014fs)
NM_001009944.3(PKD1):c.9320_9324dup (p.Ile3109fs)
NM_001009944.3(PKD1):c.9378_9383dup (p.Trp3128Ter)
NM_001009944.3(PKD1):c.9397+1G>C
NM_001009944.3(PKD1):c.9568+1G>T rs2092046394
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter) rs1596514027
NM_001009944.3(PKD1):c.9670G>T (p.Glu3224Ter)
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683
NM_001013703.4(EIF2AK4):c.1061del (p.Ser354fs)
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs) rs80359846
NM_001017420.3(ESCO2):c.760dup (p.Thr254fs) rs80359852
NM_001017995.3(SH3PXD2B):c.330del (p.Tyr111fs)
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001024630.4(RUNX2):c.1182T>A (p.Tyr394Ter)
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) rs104893991
NM_001029883.3(PCARE):c.2967del (p.Val990fs) rs1667476173
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029896.2(WDR45):c.558_561dup (p.Ile188fs)
NM_001029896.2(WDR45):c.951del (p.Lys318fs)
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001034853.2(RPGR):c.1054_1058del (p.Lys352fs) rs1555965081
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs) rs281865301
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter) rs62635001
NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs) rs2067448565
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs) rs1601943325
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter) rs1601943268
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs) rs281865302
NM_001034853.2(RPGR):c.1345C>T (p.Arg449Ter) rs2067406342
NM_001034853.2(RPGR):c.155-1G>A rs1601982595
NM_001034853.2(RPGR):c.155-2A>G rs62638632
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val) rs62638634
NM_001034853.2(RPGR):c.2105_2213dup (p.Glu742fs)
NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter) rs2067191335
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter) rs983693027
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2246_2253del (p.Glu749fs)
NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs) rs1475590979
NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter) rs267606453
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter) rs2067187550
NM_001034853.2(RPGR):c.2270_2271del (p.Glu757fs)
NM_001034853.2(RPGR):c.2274_2277del (p.Gly759fs)
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs) rs1555961832
NM_001034853.2(RPGR):c.2340del (p.Ala781fs) rs2067185564
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2412_2413del (p.Glu806fs) rs2067182636
NM_001034853.2(RPGR):c.2412_2418del (p.Gly805fs)
NM_001034853.2(RPGR):c.2423_2424del (p.Lys808fs)
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.2491G>T (p.Glu831Ter) rs865977487
NM_001034853.2(RPGR):c.2501_2502del (p.Glu834fs)
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs) rs1569236971
NM_001034853.2(RPGR):c.2506del (p.Glu836fs)
NM_001034853.2(RPGR):c.2517_2518del (p.Glu841fs) rs1373833359
NM_001034853.2(RPGR):c.2522del (p.Glu841fs) rs1601922202
NM_001034853.2(RPGR):c.2548del (p.Glu850fs) rs2067174697
NM_001034853.2(RPGR):c.2562del (p.Glu855fs)
NM_001034853.2(RPGR):c.2590G>T (p.Glu864Ter)
NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs) rs2067169934
NM_001034853.2(RPGR):c.2625dup (p.Gly876fs)
NM_001034853.2(RPGR):c.2644G>T (p.Glu882Ter)
NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter) rs137852549
NM_001034853.2(RPGR):c.2655_2656del (p.Glu886fs) rs2067164096
NM_001034853.2(RPGR):c.2679_2680del (p.Glu894fs) rs2147195624
NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs) rs2067160273
NM_001034853.2(RPGR):c.2730_2731del (p.Glu911fs)
NM_001034853.2(RPGR):c.2743G>T (p.Glu915Ter)
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2791del (p.Glu931fs)
NM_001034853.2(RPGR):c.28+1G>A rs62638627
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs) rs1555961509
NM_001034853.2(RPGR):c.2862dup (p.Trp955fs)
NM_001034853.2(RPGR):c.2863_2866del (p.Trp955fs)
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs) rs2067138439
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs) rs1555961440
NM_001034853.2(RPGR):c.2965G>T (p.Glu989Ter)
NM_001034853.2(RPGR):c.2997_2998del (p.Glu1000fs)
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs) rs1569235565
NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs) rs2067127718
NM_001034853.2(RPGR):c.3050_3051del (p.Glu1017fs)
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648
NM_001034853.2(RPGR):c.3308_3309del (p.Tyr1103fs)
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001034853.2(RPGR):c.517G>C (p.Gly173Arg) rs137852550
NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter) rs62638652
NM_001034853.2(RPGR):c.779-1G>A rs62638655
NM_001034853.2(RPGR):c.81del (p.Gly28fs)
NM_001034853.2(RPGR):c.869del (p.Glu290fs) rs62640588
NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser) rs1131692231
NM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter)
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1527+1G>C rs1060500331
NM_001042492.3(NF1):c.1527+2T>G rs1064796700
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter) rs1597712392
NM_001042492.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_001042492.3(NF1):c.288+1G>T rs1567816131
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs) rs1597716910
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3127G>T (p.Glu1043Ter)
NM_001042492.3(NF1):c.3232dup (p.Ser1078fs) rs2151433720
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_001042492.3(NF1):c.338dup (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3455_3456dup (p.Leu1153fs)
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter) rs868450405
NM_001042492.3(NF1):c.3541del (p.Glu1181fs)
NM_001042492.3(NF1):c.3737dup (p.Phe1247fs) rs1555615445
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs) rs1555615472
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.4289dup (p.Pro1431fs)
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4697_4701del (p.Ser1566fs)
NM_001042492.3(NF1):c.480-1G>A rs2065902916
NM_001042492.3(NF1):c.4902delinsAA (p.Tyr1634Ter)
NM_001042492.3(NF1):c.5103_5104del (p.Lys1701_Gly1702insTer)
NM_001042492.3(NF1):c.5581_5584del (p.Leu1860_Asn1861insTer)
NM_001042492.3(NF1):c.586+1G>T rs1555607126
NM_001042492.3(NF1):c.5886dup (p.Asn1963Ter) rs2069603579
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.60+1G>A rs1555594500
NM_001042492.3(NF1):c.6585_6586dup (p.Thr2196fs)
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.7063-1G>C rs1131691114
NM_001042492.3(NF1):c.7113C>A (p.Cys2371Ter) rs2069867490
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7458-1G>A rs1597862012
NM_001042492.3(NF1):c.755dup (p.Leu252fs)
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.8016C>A (p.Cys2672Ter)
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.984T>A (p.Cys328Ter)
NM_001046.3(SLC12A2):c.1228C>T (p.Arg410Ter)
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter) rs376790729
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001069.3(TUBB2A):c.292G>C (p.Gly98Arg) rs1064795334
NM_001072.4(UGT1A6):c.862-6831_862-6829dup
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001079.4(ZAP70):c.1624-11G>A rs730880318
NM_001079668.3(NKX2-1):c.915del (p.Ala306fs)
NM_001079802.2(FKTN):c.329_330del (p.Phe110fs) rs767865405
NM_001080517.3(SETD5):c.1498C>T (p.Gln500Ter) rs1559427364
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.4(CUBN):c.8355del (p.Asp2786fs)
NM_001083116.3(PRF1):c.904G>T (p.Glu302Ter)
NM_001083962.2(TCF4):c.1238del (p.Gly413fs)
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln) rs1057521070
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) rs121909123
NM_001084.5(PLOD3):c.1354C>T (p.Arg452Ter)
NM_001089.3(ABCA3):c.2404_2405del (p.Ser802fs)
NM_001089.3(ABCA3):c.2429_2430del (p.Phe810fs)
NM_001089.3(ABCA3):c.4483_4507del (p.Val1495fs)
NM_001089.3(ABCA3):c.4776del (p.Phe1592fs)
NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs) rs752492512
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100.4(ACTA1):c.686T>C (p.Met229Thr)
NM_001105247.2(ARMC5):c.1090C>T (p.Arg364Ter)
NM_001105247.2(ARMC5):c.327dup (p.Ala110fs)
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.414-2A>C rs267608464
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.820C>T (p.Gln274Ter) rs267608525
NM_001110792.2(MECP2):c.844del (p.Arg282fs) rs62931162
NM_001110792.2(MECP2):c.938del (p.Leu313fs)
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001111.5(ADAR):c.1600C>T (p.Arg534Ter)
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr)
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter) rs1564453619
NM_001114753.3(ENG):c.1522C>T (p.Gln508Ter)
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.787_789del (p.Ile263del) rs1830579035
NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter) rs797045445
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.5529-1231C>T rs1296262946
NM_001127392.3(MYRF):c.1208A>T (p.Gln403Leu)
NM_001127392.3(MYRF):c.492_493del (p.Glu164fs)
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter) rs797044808
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001128178.3(NPHP1):c.1084-1G>T rs1458494785
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs) rs1017750255
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001142800.2(EYS):c.1505_1506insGA (p.Phe502fs)
NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter) rs909730457
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001142966.3(GREB1L):c.1907_1910dup (p.Pro638fs)
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001160372.4(TRAPPC9):c.274_280del (p.Trp92fs) rs1554689964
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys) rs1568480054
NM_001164277.2(SLC37A4):c.1035dup (p.Ile346fs)
NM_001164508.2(NEB):c.11886del (p.Ser3963fs)
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001164508.2(NEB):c.24410del (p.Asn8137fs)
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164688.2(RD3):c.112C>T (p.Arg38Ter) rs786205148
NM_001165963.4(SCN1A):c.1047T>G (p.Tyr349Ter) rs1369404945
NM_001165963.4(SCN1A):c.1048_1049del (p.Met350fs)
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001167.4(XIAP):c.1009G>T (p.Glu337Ter)
NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter) rs1057524677
NM_001170629.2(CHD8):c.4414C>T (p.Arg1472Ter) rs991738444
NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter) rs1555313934
NM_001170629.2(CHD8):c.5179G>T (p.Glu1727Ter)
NM_001171.6(ABCC6):c.196dup (p.Ser66fs) rs1064793538
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.6(ABCC6):c.3341G>C (p.Arg1114Pro) rs63750427
NM_001171.6(ABCC6):c.982_988delinsTTCCCC (p.Val328fs)
NM_001171.6(ABCC6):c.998+2_998+3del rs72664204
NM_001172509.2(SATB2):c.1842del (p.Lys614fs)
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter) rs797044874
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter) rs772409032
NM_001174147.2(LMX1B):c.221C>A (p.Ser74Ter)
NM_001174147.2(LMX1B):c.232G>T (p.Glu78Ter)
NM_001174147.2(LMX1B):c.340A>T (p.Lys114Ter)
NM_001174147.2(LMX1B):c.597_598dup (p.Lys200fs)
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001194998.2(CEP152):c.3172del (p.Gln1058fs)
NM_001195129.2(PRSS56):c.1066dup (p.Gln356fs) rs730882064
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001197104.2(KMT2A):c.11001dup (p.Pro3668fs) rs1591292118
NM_001197104.2(KMT2A):c.152_186del (p.Pro51fs) rs2134153013
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer) rs1085307169
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) rs1085307154
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001242882.2(NAXD):c.54_57del (p.Ala20fs) rs773887880
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met) rs387906799
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_001256789.3(CACNA1F):c.273G>A (p.Trp91Ter)
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001257180.2(SLC20A2):c.344C>T (p.Thr115Met)
NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer) rs398122395
NM_001257180.2(SLC20A2):c.82G>A (p.Asp28Asn) rs1554561099
NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs) rs752101551
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs) rs1555445685
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001277115.2(DNAH11):c.10955dup (p.Asp3652fs)
NM_001277115.2(DNAH11):c.13165_13168dup (p.Met4390fs) rs766922403
NM_001277115.2(DNAH11):c.2170-1G>A
NM_001277115.2(DNAH11):c.4395_4398del (p.Ser1465fs) rs761764078
NM_001277115.2(DNAH11):c.5924+1G>C rs886039340
NM_001278116.2(L1CAM):c.1704-1G>A rs1557091678
NM_001278116.2(L1CAM):c.2219G>A (p.Trp740Ter)
NM_001278116.2(L1CAM):c.991+1G>A
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) rs202134424
NM_001282531.3(ADNP):c.1239_1240del (p.Gln414fs) rs1981021559
NM_001282531.3(ADNP):c.2189del (p.Arg730fs)
NM_001287.6(CLCN7):c.643G>A (p.Gly215Arg) rs397515539
NM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln) rs690016548
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr) rs281860274
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs) rs779685748
NM_001291415.2(KDM6A):c.1083_1084del (p.Leu361_Tyr362insTer)
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs) rs1157646266
NM_001303052.2(MYT1L):c.503del (p.Asn168fs)
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys) rs1602510200
NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter) rs1085307703
NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter) rs1182894684
NM_001321120.2(TBX4):c.702+1G>A rs1555883342
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.2469del (p.Glu824fs) rs587783124
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs) rs786204987
NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter) rs796052128
NM_001329943.3(KIAA0586):c.1909del (p.Ile637fs)
NM_001347721.2(DYRK1A):c.1213-2A>G rs1601315812
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln) rs878854416
NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp) rs878854417
NM_001349338.3(FOXP1):c.1241del (p.Leu414fs)
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001353345.2(SETD1B):c.3100del (p.Glu1034fs)
NM_001354712.2(THRB):c.1358dup (p.Leu454fs) rs1553609119
NM_001354712.2(THRB):c.958C>T (p.Arg320Cys) rs121918696
NM_001355436.2(SPTB):c.1305_1306del (p.Glu435fs)
NM_001355436.2(SPTB):c.1782dup (p.Thr595fs)
NM_001355436.2(SPTB):c.1825C>T (p.Gln609Ter)
NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter) rs1566775577
NM_001355436.2(SPTB):c.3590del (p.Pro1197fs)
NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter) rs2139511447
NM_001355436.2(SPTB):c.5853_5854del (p.Glu1951fs)
NM_001356.5(DDX3X):c.3G>A (p.Met1Ile)
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001358530.2(MOCS1):c.253C>T (p.Gln85Ter) rs1768262580
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg) rs80338862
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.618dup (p.Pro207fs)
NM_001365902.3(NFIX):c.1087dup (p.Arg363fs) rs886041647
NM_001365902.3(NFIX):c.346C>T (p.Arg116Trp) rs1555696603
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001368894.2(PAX6):c.-129+1G>A rs1565277245
NM_001368894.2(PAX6):c.399+1G>A rs398123295
NM_001368894.2(PAX6):c.609del (p.Ile204fs)
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001369.3(DNAH5):c.11536C>T (p.Gln3846Ter) rs1443845070
NM_001369.3(DNAH5):c.1627C>T (p.Gln543Ter) rs2151977668
NM_001369.3(DNAH5):c.3549_3550del (p.Asn1184fs)
NM_001369.3(DNAH5):c.3589_3590del (p.Leu1197fs) rs1561477725
NM_001369.3(DNAH5):c.552del (p.Glu185fs)
NM_001369.3(DNAH5):c.7914dup (p.Arg2639fs) rs749082955
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs) rs730882136
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs) rs587776583
NM_001371623.1(TCOF1):c.2860-1G>A
NM_001371928.1(AHDC1):c.2318del (p.Gly773fs)
NM_001372.4(DNAH9):c.308del (p.Phe103fs) rs769795916
NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter) rs2083361357
NM_001372076.1(PAX9):c.139del (p.Arg47fs)
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) rs397507473
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter) rs1553476382
NM_001374353.1(GLI2):c.798_804del (p.Ser266fs)
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn) rs121909101
NM_001374385.1(ATP8B1):c.2788C>T (p.Arg930Ter)
NM_001374828.1(ARID1B):c.1293_1314del (p.Gly434fs) rs1778945620
NM_001374828.1(ARID1B):c.2003del (p.Gly668fs)
NM_001374828.1(ARID1B):c.4131_4138del (p.Met1377fs)
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001376013.1(EPB41):c.1411C>T (p.Arg471Ter)
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser) rs769053227
NM_001377.3(DYNC2H1):c.11725+2T>C
NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs) rs748906528
NM_001377.3(DYNC2H1):c.8312-2A>G
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001377265.1(MAPT):c.2091+16C>T rs63751011
NM_001378418.1(TCF20):c.853G>T (p.Gly285Ter)
NM_001378454.1(ALMS1):c.10530_10531insGTCTTTCCAAGATTGGAAT (p.Trp3511fs)
NM_001378454.1(ALMS1):c.11098C>T (p.His3700Tyr)
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.7393G>T (p.Val2465Leu)
NM_001378477.3(NYX):c.23-1_23delinsTT rs1555967031
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378743.1(CYLD):c.2263C>T (p.Gln755Ter)
NM_001379403.1(WDR26):c.1204C>T (p.Gln402Ter)
NM_001379500.1(COL18A1):c.2928dup (p.Gly977fs)
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs) rs863225190
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384359.1(FUT1):c.881_882del (p.Phe294fs)
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2275C>T (p.Gln759Ter) rs863225158
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter) rs863225164
NM_001384732.1(CPLANE1):c.3130_3131insA (p.Arg1044fs) rs863225161
NM_001384732.1(CPLANE1):c.7243dup (p.Thr2415fs)
NM_001386140.1(MTTP):c.419dup (p.Asn140fs) rs762901763
NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1]) rs397516668
NM_001399.5(EDA):c.599dup (p.Gly201fs) rs1556098570
NM_001399.5(EDA):c.730C>T (p.Arg244Ter) rs397516672
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.3476_3501+41del
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.478C>T (p.Gln160Ter)
NM_001451.3(FOXF1):c.310G>T (p.Glu104Ter)
NM_001453.3(FOXC1):c.380G>A (p.Arg127His) rs1085307884
NM_001481.3(GAS8):c.1069C>T (p.Gln357Ter) rs566755911
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001556.3(IKBKB):c.1292dup (p.Gln432fs) rs886041036
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) rs587777385
NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys) rs78001248
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.175-1G>C rs1572919267
NM_001754.4(RUNX1):c.352-1G>T rs587776809
NM_001754.5(RUNX1):c.1036del (p.Arg346fs)
NM_001754.5(RUNX1):c.184_187dup (p.Ala63fs)
NM_001754.5(RUNX1):c.240_241del (p.Glu80fs) rs1569084388
NM_001754.5(RUNX1):c.292del (p.Leu98fs) rs1569084170
NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu) rs121912498
NM_001754.5(RUNX1):c.330G>C (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.351+1G>A rs1060502579
NM_001754.5(RUNX1):c.567C>G (p.Tyr189Ter) rs1569061831
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln) rs74315450
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001844.5(COL2A1):c.1358G>T (p.Gly453Val)
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
NM_001844.5(COL2A1):c.2813del (p.Pro938fs) rs886039543
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter) rs1057524114
NM_001844.5(COL2A1):c.3427G>A (p.Gly1143Ser) rs2136518157
NM_001844.5(COL2A1):c.3597+1G>C rs1555164874
NM_001844.5(COL2A1):c.3624del (p.Gly1209fs) rs1555164789
NM_001844.5(COL2A1):c.3864_3865del (p.Cys1289fs) rs2136510866
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter) rs2136508909
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) rs1131691822
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val) rs121912935
NM_001849.4(COL6A2):c.1770+1del rs886044215
NM_001854.4(COL11A1):c.2862+2_2862+3del
NM_001904.4(CTNNB1):c.1097T>G (p.Leu366Ter)
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001904.4(CTNNB1):c.865_869del (p.Thr289fs)
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter) rs886041281
NM_001942.4(DSG1):c.280C>T (p.Gln94Ter)
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser) rs587777162
NM_001972.4(ELANE):c.597+1G>A rs1555710005
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002087.4(GRN):c.1429_1430dup (p.Asp477fs)
NM_002087.4(GRN):c.347C>A (p.Ser116Ter)
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.340del (p.Glu114fs)
NM_002292.4(LAMB2):c.5182C>T (p.Gln1728Ter)
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) rs121908661
NM_002448.3(MSX1):c.623C>A (p.Ser208Ter) rs104893853
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg) rs1565943228
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002480.3(PPP1R12A):c.2533C>T (p.Arg845Ter)
NM_002480.3(PPP1R12A):c.2629del (p.Ser877fs)
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002576.5(PAK1):c.362C>T (p.Pro121Leu) rs1949519149
NM_002585.4(PBX1):c.862C>T (p.Arg288Ter)
NM_002617.4(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002618.4(PEX13):c.676C>T (p.Arg226Ter)
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del) rs398122386
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter) rs886041228
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
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_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln) rs863225045
NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAA
NM_002878.4(RAD51D):c.340dup (p.Thr114fs)
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter) rs747745016
NM_002890.3(RASA1):c.2450_2451del (p.Ser817fs) rs886041400
NM_002890.3(RASA1):c.577dup (p.Glu193fs)
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter) rs137853218
NM_002948.5(RPL15):c.242dup (p.Tyr81Ter)
NM_002968.3(SALL1):c.874C>T (p.Gln292Ter)
NM_003000.3(SDHB):c.287-2A>G rs1064794270
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs) rs786201316
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys) rs786203251
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys) rs1697264007
NM_003072.5(SMARCA4):c.1141C>T (p.Arg381Ter) rs972341316
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003106.4(SOX2):c.70_89del (p.Asn24fs) rs398123693
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.773_774del (p.Val258fs) rs768136171
NM_003126.4(SPTA1):c.2319C>A (p.Cys773Ter)
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003140.3(SRY):c.294G>A (p.Trp98Ter)
NM_003172.4(SURF1):c.281dup (p.Leu94fs) rs1588691786
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp) rs137853305
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) rs199476153
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) rs782416867
NM_003361.4(UMOD):c.553C>A (p.Arg185Ser)
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003361.4(UMOD):c.744C>G (p.Cys248Trp) rs886043751
NM_003482.4(KMT2D):c.11435_11457del (p.Gln3812fs)
NM_003482.4(KMT2D):c.12760C>T (p.Gln4254Ter)
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.13390C>T (p.Gln4464Ter)
NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter) rs1555185969
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.16294C>T (p.Arg5432Trp) rs1565753611
NM_003482.4(KMT2D):c.1782_1783dup (p.Glu595fs)
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter) rs1555194045
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.7594del (p.Ser2532fs)
NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter) rs1555191740
NM_003482.4(KMT2D):c.8549_8558delinsAA (p.Leu2850fs)
NM_003482.4(KMT2D):c.9265del (p.Val3089fs)
NM_003482.4(KMT2D):c.9322G>T (p.Glu3108Ter)
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003590.5(CUL3):c.1351G>T (p.Glu451Ter)
NM_003590.5(CUL3):c.590_593del (p.Gly197fs)
NM_003611.3(OFD1):c.1268_1272del (p.Gln423fs)
NM_003718.5(CDK13):c.2201A>G (p.Lys734Arg) rs1784692399
NM_003722.5(TP63):c.1727T>C (p.Ile576Thr) rs1057517841
NM_003722.5(TP63):c.952C>T (p.Arg318Cys) rs1205536026
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln) rs1463057954
NM_003742.4(ABCB11):c.2343+1G>T rs774411820
NM_003742.4(ABCB11):c.3379G>T (p.Glu1127Ter)
NM_003742.4(ABCB11):c.908+1G>C rs147649016
NM_003907.3(EIF2B5):c.407G>A (p.Arg136His) rs958193703
NM_003924.4(PHOX2B):c.671_729del (p.Pro224fs)
NM_003924.4(PHOX2B):c.684dup (p.Pro229fs)
NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs) rs1733878065
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup) rs761018157
NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr) rs121908130
NM_003995.4(NPR2):c.1436+1G>T
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.575_576del (p.Thr192fs) rs1057517521
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004006.3(DMD):c.2293-2A>G rs2148691779
NM_004006.3(DMD):c.3651dup (p.Thr1218fs)
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter) rs398124074
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu) rs397514499
NM_004100.5(EYA4):c.1241_1248del (p.Phe414fs)
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter) rs1064793567
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) rs1553997617
NM_004168.4(SDHA):c.464del (p.Asn155fs)
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu) rs281865221
NM_004183.4(BEST1):c.971_975del (p.Glu324fs)
NM_004239.4(TRIP11):c.757C>T (p.Arg253Ter)
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) rs1589630141
NM_004312.3(ARR3):c.214C>T (p.Arg72Ter) rs2147641058
NM_004320.6(ATP2A1):c.1742_1743del (p.Ser581fs) rs1421005631
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs) rs751365374
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) rs180177040
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004360.5(CDH1):c.1541_1565delinsTGTAGT (p.Asp514_Thr522delinsValTer)
NM_004360.5(CDH1):c.1849_1856del (p.Ala617fs) rs2152138436
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004369.4(COL6A3):c.7669-2del rs764193290
NM_004380.3(CREBBP):c.1824-1G>T
NM_004380.3(CREBBP):c.223C>T (p.Arg75Ter) rs2141496166
NM_004380.3(CREBBP):c.3779+1G>T rs587783483
NM_004380.3(CREBBP):c.4890+2T>C rs786205495
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004415.4(DSP):c.747C>A (p.Tyr249Ter)
NM_004444.5(EPHB4):c.924C>G (p.Tyr308Ter)
NM_004453.4(ETFDH):c.1690+2T>G
NM_004456.5(EZH2):c.2233G>A (p.Glu745Lys) rs397515548
NM_004463.3(FGD1):c.482-2A>G
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004539.4(NARS1):c.251_252del (p.Glu84fs)
NM_004586.3(RPS6KA3):c.1540C>T (p.Arg514Ter)
NM_004621.6(TRPC6):c.2684G>T (p.Arg895Leu) rs1591517912
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) rs869025541
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.2421-25_2604+301del
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)
NM_004646.4(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004646.4(NPHS1):c.904del (p.Leu302fs)
NM_004656.4(BAP1):c.665_666del (p.Pro222fs)
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs) rs751206379
NM_004959.5(NR5A1):c.251G>A (p.Arg84His) rs375469069
NM_004959.5(NR5A1):c.86C>G (p.Thr29Arg)
NM_004959.5(NR5A1):c.871-1G>C
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly) rs121909668
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu) rs886041390
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004999.4(MYO6):c.1983+1G>A rs2149321922
NM_004999.4(MYO6):c.613C>T (p.Arg205Ter)
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del) rs759488854
NM_005149.3(TBX19):c.782del (p.Asn261fs) rs730880274
NM_005208.5(CRYBA1):c.215+1G>C rs1264025914
NM_005214.5(CTLA4):c.457+1G>A
NM_005220.3(DLX3):c.571_574del (p.Gly191fs) rs387906405
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005249.5(FOXG1):c.460G>T (p.Glu154Ter) rs1057520780
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005251.3(FOXC2):c.943C>T (p.Gln315Ter)
NM_005257.6(GATA6):c.1498_1501del (p.Lys500fs)
NM_005267.5(GJA8):c.290T>G (p.Val97Gly)
NM_005321.3(H1-4):c.445_446del (p.Lys149fs)
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005445.4(SMC3):c.778C>T (p.Gln260Ter)
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_005461.5(MAFB):c.188C>T (p.Pro63Leu)
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005570.4(LMAN1):c.1356del (p.Asn452_Leu453insTer) rs869312033
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005664.4(MKRN3):c.482dup (p.Ala162fs) rs763195944
NM_005802.5(TOPORS):c.2474dup (p.Tyr825Ter) rs1587620953
NM_005859.5(PURA):c.26_35del (p.Glu9fs)
NM_005859.5(PURA):c.363C>G (p.Tyr121Ter) rs587782996
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter) rs1554054831
NM_005912.3(MC4R):c.343_344del (p.Gln115fs)
NM_005912.3(MC4R):c.631_634del (p.Leu211fs) rs13447338
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) rs193922687
NM_005921.2(MAP3K1):c.566T>C (p.Leu189Pro) rs387906788
NM_005996.4(TBX3):c.1141G>T (p.Glu381Ter)
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006005.3(WFS1):c.2033G>A (p.Trp678Ter)
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006015.6(ARID1A):c.3858_3859insT (p.Arg1287Ter)
NM_006015.6(ARID1A):c.5624dup (p.Pro1876fs)
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006019.4(TCIRG1):c.1230del (p.Leu411fs) rs2134454279
NM_006019.4(TCIRG1):c.692del (p.Lys231fs)
NM_006031.6(PCNT):c.8593_8594del (p.Arg2865fs)
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys) rs267607165
NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu) rs587777429
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys) rs59429455
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) rs121434226
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) rs1064793732
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) rs397514565
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006269.2(RP1):c.1938_1941del (p.Ile646fs)
NM_006494.4(ERF):c.256C>T (p.Arg86Cys) rs587777008
NM_006502.3(POLH):c.1222_1225del (p.Thr408fs)
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) rs770084716
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006735.4(HOXA2):c.687_691del (p.Glu229fs)
NM_006766.5(KAT6A):c.3483_3484del (p.His1162fs)
NM_006767.4(LZTR1):c.1615+2T>C
NM_006767.4(LZTR1):c.2013_2014del (p.Leu672fs)
NM_006767.4(LZTR1):c.739del (p.Ser247fs)
NM_006767.4(LZTR1):c.890_891del (p.Tyr297fs) rs767445373
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs) rs2151168473
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.245T>G (p.Phe82Cys) rs868208063
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006929.5(SKIC2):c.1612del (p.Ala538fs) rs1353707093
NM_006929.5(SKIC2):c.950del (p.Gln317fs)
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_006941.4(SOX10):c.127C>T (p.Arg43Ter) rs1555939523
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) rs397514679
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007118.4(TRIO):c.4292A>T (p.Lys1431Met) rs1747351918
NM_007194.4(CHEK2):c.16del (p.Asp6fs) rs2146156838
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter) rs1057517786
NM_007217.4(PDCD10):c.150+1G>A rs1553762839
NM_007217.4(PDCD10):c.322C>T (p.Arg108Ter) rs1553760900
NM_007217.4(PDCD10):c.395+2T>G rs1559952217
NM_007217.4(PDCD10):c.396-3C>G rs1559945136
NM_007217.4(PDCD10):c.586C>T (p.Arg196Ter) rs1404676956
NM_007254.4(PNKP):c.916_917del (p.Phe306fs) rs2074784617
NM_007289.4(MME):c.1645G>T (p.Gly549Ter)
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs) rs80357770
NM_007294.4(BRCA1):c.1551del (p.Phe517fs) rs80357630
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2206del (p.Glu736fs) rs80357860
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.4(BRCA1):c.2488_2504dup (p.His835fs) rs483353078
NM_007294.4(BRCA1):c.2995_2996delinsTA (p.Leu999Ter) rs273899692
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3642_3643del (p.Asn1215fs) rs80357805
NM_007294.4(BRCA1):c.3647T>A (p.Leu1216Ter) rs397509091
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter) rs80356896
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5152+1G>C rs80358094
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_007327.4(GRIN1):c.2443G>A (p.Gly815Arg) rs797044925
NM_012062.5(DNM1L):c.1084G>A (p.Gly362Ser) rs886037861
NM_012064.4(MIP):c.605G>A (p.Trp202Ter)
NM_012064.4(MIP):c.638del (p.Gly213fs) rs398122378
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) rs1554843815
NM_012330.4(KAT6B):c.4066del (p.Glu1356fs)
NM_012452.3(TNFRSF13B):c.227_231del (p.Gly76fs) rs1265262160
NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys) rs1583981736
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013275.6(ANKRD11):c.2216C>A (p.Ser739Ter)
NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs) rs1555528354
NM_013275.6(ANKRD11):c.3761del (p.Ser1254fs)
NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter) rs764501022
NM_013275.6(ANKRD11):c.4345_4346del (p.Gly1449fs)
NM_013275.6(ANKRD11):c.4964_4965del (p.Lys1655fs)
NM_013275.6(ANKRD11):c.6401_6422dup (p.Pro2142fs)
NM_013275.6(ANKRD11):c.7062dup (p.Ser2355fs) rs886041942
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln) rs1057520529
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014239.4(EIF2B2):c.607del (p.Met203fs)
NM_014251.3(SLC25A13):c.1075C>T (p.Gln359Ter) rs1794541339
NM_014251.3(SLC25A13):c.1453-1G>A rs1792048079
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del) rs202247803
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034
NM_014319.5(LEMD3):c.1323C>A (p.Tyr441Ter) rs2136313585
NM_014495.4(ANGPTL3):c.363_367del (p.Asn121fs) rs398122988
NM_014585.6(SLC40A1):c.1469G>A (p.Gly490Asp) rs1060501102
NM_014585.6(SLC40A1):c.476TTG[3] (p.Val162del) rs878854984
NM_014625.4(NPHS2):c.293_294del (p.Leu98fs)
NM_014625.4(NPHS2):c.419del (p.Gly140fs) rs749779208
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_014714.4(IFT140):c.1648C>T (p.Arg550Ter)
NM_014714.4(IFT140):c.1867_1870del (p.Glu623fs)
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter) rs777399400
NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter) rs1567330535
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter) rs559314300
NM_014780.5(CUL7):c.4451_4452del (p.Val1484fs) rs730880261
NM_014795.4(ZEB2):c.1257del (p.Gly421fs) rs786204801
NM_014795.4(ZEB2):c.3031del (p.Ser1011fs)
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.4(MFN2):c.2171T>C (p.Leu724Pro) rs1557537346
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014967.5(FAN1):c.141C>A (p.Cys47Ter)
NM_014975.3(MAST1):c.1549G>A (p.Gly517Ser) rs1568413207
NM_015040.4(PIKFYVE):c.3112C>T (p.Arg1038Ter)
NM_015087.5(SPART):c.1110del (p.Lys370fs) rs1060499524
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015102.5(NPHP4):c.2932del (p.Glu978fs)
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter) rs1553663498
NM_015215.4(CAMTA1):c.2685_2686dup (p.Gln896fs)
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015295.3(SMCHD1):c.2328del (p.Phe776fs)
NM_015295.3(SMCHD1):c.404G>A (p.Ser135Asn) rs1057519646
NM_015311.3(OBSL1):c.458dup (p.Leu154fs) rs767237510
NM_015338.6(ASXL1):c.2278C>T (p.Gln760Ter)
NM_015352.2(POFUT1):c.397C>T (p.Arg133Ter)
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter) rs2077221203
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015559.3(SETBP1):c.1588C>T (p.Arg530Ter)
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) rs606231273
NM_015559.3(SETBP1):c.2087del (p.Pro696fs)
NM_015559.3(SETBP1):c.2606G>A (p.Ser869Asn)
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015629.4(PRPF31):c.1263dup (p.Lys422fs)
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) rs2073926924
NM_015896.4(ZMYND10):c.300del (p.Phe101fs) rs587777043
NM_015909.4(NBAS):c.686dup (p.Ser230fs) rs759315662
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.297_300del (p.Glu99fs) rs113993994
NM_016222.4(DDX41):c.1141A>T (p.Lys381Ter) rs144057590
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter) rs1567649945
NM_016239.4(MYO15A):c.7720C>T (p.Gln2574Ter)
NM_016356.5(DCDC2):c.705-2A>G
NM_016373.4(WWOX):c.409_409+14del
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016628.5(WAC):c.1474_1475del (p.Gln492fs)
NM_016648.4(LARP7):c.925C>T (p.Arg309Ter)
NM_017617.5(NOTCH1):c.1537C>T (p.Gln513Ter)
NM_017617.5(NOTCH1):c.2436del (p.Tyr813fs)
NM_017617.5(NOTCH1):c.2536C>T (p.Gln846Ter)
NM_017617.5(NOTCH1):c.3170del (p.Gln1057fs)
NM_017617.5(NOTCH1):c.4315_4318dup (p.Ile1440fs)
NM_017654.4(SAMD9):c.2471G>A (p.Arg824Gln) rs1435946172
NM_017654.4(SAMD9):c.3878G>A (p.Arg1293Gln) rs1791543423
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter) rs727503860
NM_017780.4(CHD7):c.1953dup (p.Asp652fs) rs2150669843
NM_017780.4(CHD7):c.2053del (p.Ala685fs)
NM_017780.4(CHD7):c.3285del (p.Asn1096fs)
NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs) rs2150761158
NM_017780.4(CHD7):c.4213C>T (p.Gln1405Ter)
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter) rs886040978
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5665+1G>A
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter) rs1554581277
NM_017780.4(CHD7):c.6629del (p.Glu2210fs)
NM_017780.4(CHD7):c.6923C>A (p.Ser2308Ter)
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) rs1064793346
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_017802.4(DNAAF5):c.2450del (p.Ser817fs)
NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter) rs2127741566
NM_017934.7(PHIP):c.2670_2671del (p.Lys891fs)
NM_017950.4(CCDC40):c.2712-1G>T rs370706991
NM_018006.5(TRMU):c.229T>C (p.Tyr77His) rs118203990
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018136.5(ASPM):c.1599_1606del (p.Asn533fs)
NM_018136.5(ASPM):c.2026+2C>G
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018249.6(CDK5RAP2):c.448C>T (p.Arg150Ter)
NM_018344.6(SLC29A3):c.1346C>G (p.Thr449Arg) rs267607058
NM_018367.7(ACER3):c.436C>T (p.Gln146Ter)
NM_018486.3(HDAC8):c.164+5G>A rs398122888
NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys) rs1684813071
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_019032.6(ADAMTSL4):c.963del (p.Thr322fs)
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019112.4(ABCA7):c.3247C>T (p.Gln1083Ter)
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020207.7(ERCC6L2):c.1220_1221del (p.Glu407fs)
NM_020247.5(COQ8A):c.1085del (p.Pro362fs)
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
NM_020436.5(SALL4):c.1242_1245del (p.Cys415fs)
NM_020458.4(TTC7A):c.1001+3_1001+6del rs587776971
NM_020632.3(ATP6V0A4):c.338del (p.Asn113fs)
NM_020719.3(PRR12):c.1441C>T (p.Gln481Ter)
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020812.4(DOCK6):c.3180del (p.Cys1061fs)
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter) rs1554041295
NM_020937.4(FANCM):c.3577C>T (p.Gln1193Ter)
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) rs587776940
NM_020975.6(RET):c.1252C>T (p.Arg418Ter) rs2132747295
NM_020975.6(RET):c.1759+1G>A
NM_020975.6(RET):c.1852T>A (p.Cys618Ser) rs76262710
NM_020975.6(RET):c.208C>T (p.Gln70Ter)
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.538C>T (p.Arg180Ter) rs76449634
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) rs886039494
NM_020988.3(GNAO1):c.724-8G>A rs1085307876
NM_020989.4(CRYGC):c.475dup (p.Ala159fs)
NM_021222.3(PRUNE1):c.521-2A>G rs886039608
NM_021224.6(ZNF462):c.6163C>T (p.Arg2055Ter)
NM_021625.5(TRPV4):c.266C>T (p.Thr89Ile) rs397514473
NM_021628.3(ALOXE3):c.631C>T (p.Arg211Ter) rs141340759
NM_021728.4(OTX2):c.165_168del (p.Ala56fs)
NM_021828.5(HPSE2):c.57dup (p.Ala20fs) rs778121647
NM_021870.2(FGG):c.1007T>C (p.Met336Thr) rs121913091
NM_021871.4(FGA):c.1483_1495del (p.Met495fs)
NM_021939.4(FKBP10):c.1016_1023dup (p.Thr342fs)
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)
NM_022124.6(CDH23):c.9381-2A>G
NM_022356.4(P3H1):c.838C>T (p.Gln280Ter) rs1652551021
NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter) rs119479066
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs) rs1581319715
NM_022455.5(NSD1):c.4072C>T (p.Gln1358Ter)
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022489.4(INF2):c.556T>C (p.Ser186Pro) rs267606877
NM_022552.5(DNMT3A):c.1803G>A (p.Trp601Ter)
NM_023067.4(FOXL2):c.251T>G (p.Ile84Ser) rs28937884
NM_023067.4(FOXL2):c.644A>G (p.Tyr215Cys) rs1057516168
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg) rs727505376
NM_024408.4(NOTCH2):c.6403_6404del (p.Leu2135fs) rs1649067817
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024426.6(WT1):c.1400G>C (p.Arg467Pro) rs121907903
NM_024426.6(WT1):c.1405G>T (p.Asp469Tyr) rs28941778
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024426.6(WT1):c.381del (p.Ala128fs)
NM_024426.6(WT1):c.619del (p.Leu207fs)
NM_024426.6(WT1):c.796_797dup (p.Ser267fs)
NM_024513.4(FYCO1):c.3270-2A>C
NM_024513.4(FYCO1):c.3670C>T (p.Arg1224Ter)
NM_024513.4(FYCO1):c.4270C>T (p.Arg1424Ter)
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024570.4(RNASEH2B):c.136+1del rs75186889
NM_024649.5(BBS1):c.724-8_726del rs1856202628
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) rs1057517143
NM_024675.4(PALB2):c.2325dup (p.Phe776fs) rs876659997
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2835-1G>A rs515726099
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer) rs886039503
NM_024675.4(PALB2):c.3350+4A>G rs180177136
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs) rs587776426
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.839del (p.Asn280fs) rs1555461597
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.409C>T (p.Gln137Ter) rs2136091166
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024747.6(HPS6):c.60_64dup (p.Leu22fs) rs752399257
NM_024757.5(EHMT1):c.2610_2613dup (p.Gly872Ter)
NM_025074.7(FRAS1):c.10597C>T (p.Arg3533Ter)
NM_025074.7(FRAS1):c.4016G>A (p.Trp1339Ter)
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs) rs1223251937
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs) rs62638180
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025137.4(SPG11):c.1203del (p.Asp402fs) rs312262722
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met) rs1052954321
NM_025216.3(WNT10A):c.532_537delinsA (p.Gln178fs)
NM_030632.3(ASXL3):c.3039+1G>A rs1555743003
NM_030662.4(MAP2K2):c.383C>T (p.Pro128Leu) rs267607230
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030665.4(RAI1):c.640C>T (p.Gln214Ter)
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_031263.4(HNRNPK):c.1053_1054dup (p.Trp352fs)
NM_031421.5(ODAD4):c.397+1G>A
NM_031421.5(ODAD4):c.459+1G>A
NM_031433.4(MFRP):c.498del (p.Asn167fs) rs587776596
NM_031443.4(CCM2):c.169_172del (p.Arg57fs) rs1562882045
NM_031443.4(CCM2):c.289-1G>T rs1562907365
NM_031443.4(CCM2):c.30+1G>A rs1562848479
NM_031443.4(CCM2):c.30+5_30+6delinsTT rs797044623
NM_031443.4(CCM2):c.314del (p.His104_Leu105insTer) rs1562907455
NM_031443.4(CCM2):c.610-1G>A rs1562913873
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) rs515726204
NM_031885.5(BBS2):c.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.472-2A>G rs137854887
NM_031889.3(ENAM):c.588+1del rs752102959
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032119.4(ADGRV1):c.14404C>T (p.Arg4802Ter) rs1236715896
NM_032382.5(COG8):c.1680_1681del (p.Glu560fs) rs780534334
NM_032383.5(HPS3):c.851_852del (p.Arg284fs) rs750685598
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_032638.5(GATA2):c.1017+2T>A rs1576746830
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1128C>A (p.Tyr376Ter) rs750890699
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) rs1576744529
NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln) rs1553770434
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032638.5(GATA2):c.561dup (p.Thr188fs) rs1576748738
NM_032638.5(GATA2):c.599del (p.Gly200fs) rs768767517
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_032638.5(GATA2):c.610C>T (p.Arg204Ter) rs1576748638
NM_032737.4(LMNB2):c.1192G>A (p.Glu398Lys) rs1971791380
NM_032856.5(WDR73):c.888del (p.Phe296fs) rs869320712
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter) rs770891152
NM_033360.4(KRAS):c.*22C>G rs104894362
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp) rs104886101
NM_033380.3(COL4A5):c.1780-1G>T rs104886338
NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu) rs104886363
NM_033380.3(COL4A5):c.2740_2745delinsC (p.Gly914fs)
NM_033380.3(COL4A5):c.3295_3299del (p.Ser1099fs)
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_052867.4(NALCN):c.1799A>G (p.Asp600Gly) rs1594368726
NM_053274.3(GLMN):c.1355del (p.Leu452fs) rs773435694
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer) rs762515373
NM_054012.4(ASS1):c.774-2A>G rs1588496214
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs) rs786203945
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs) rs1598455598
NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter) rs1555593670
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_130837.3(OPA1):c.1681+1G>T rs886041318
NM_130837.3(OPA1):c.1800C>A (p.Ser600Arg) rs398124298
NM_130837.3(OPA1):c.2253_2254del (p.Ile751_Phe752insTer)
NM_130837.3(OPA1):c.2287del (p.Ser763fs) rs1219753329
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter) rs863224906
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.336del (p.Tyr113fs)
NM_130837.3(OPA1):c.507dup (p.Asp170Ter)
NM_130837.3(OPA1):c.872T>G (p.Leu291Ter)
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys) rs1064793307
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs) rs864309508
NM_130839.5(UBE3A):c.2515_2518dup (p.Cys840fs)
NM_130839.5(UBE3A):c.2532_2535dup (p.Leu846fs)
NM_130849.4(SLC39A4):c.1465_1474+4del rs782563835
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter) rs398124466
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.6873dup (p.His2292fs)
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs) rs80358368
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_138295.5(PKD1L1):c.6473+2_6473+3del rs528302390
NM_138295.5(PKD1L1):c.7663C>T (p.Arg2555Ter) rs200853469
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138638.5(CFL2):c.100_103del (p.Lys34fs) rs1885387438
NM_138691.3(TMC1):c.2050G>C (p.Asp684His)
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.11310+1G>C rs1365407882
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs) rs1064796287
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.3202A>T (p.Arg1068Ter)
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs) rs1554194574
NM_138694.4(PKHD1):c.5909-2del rs1334913120
NM_138694.4(PKHD1):c.6332+2T>A rs1783090781
NM_138694.4(PKHD1):c.6683-2A>G
NM_138694.4(PKHD1):c.7275del (p.Phe2425fs)
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138927.4(SON):c.2381del (p.Gln794fs)
NM_139027.6(ADAMTS13):c.1456_1457del (p.Met486fs)
NM_139248.3(LIPH):c.659_660del (p.Ile220fs) rs559648418
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_144668.6(CFAP251):c.799C>T (p.Arg267Ter)
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.619-1G>A rs1131690840
NM_144997.7(FLCN):c.890_893del (p.Glu297fs) rs398124541
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.971dup (p.Val325fs) rs796052941
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter) rs137852217
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser) rs387907053
NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer) rs758558609
NM_153240.5(NPHP3):c.3812+2dup
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.384+5G>C rs1553865348
NM_153717.3(EVC):c.618-2A>G
NM_172107.4(KCNQ2):c.358A>T (p.Lys120Ter)
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.833T>C (p.Ile278Thr) rs1057523728
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp) rs1131691936
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_175914.5(HNF4A):c.-181G>A rs2146126966
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_177438.3(DICER1):c.1196_1197dup (p.Trp400fs) rs1595438867
NM_177438.3(DICER1):c.1306dup (p.Ser436fs) rs1595438234
NM_177438.3(DICER1):c.1329_1344del (p.Cys443fs) rs1595438051
NM_177438.3(DICER1):c.1525C>T (p.Arg509Ter) rs886037672
NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter) rs137852979
NM_177438.3(DICER1):c.1870C>T (p.Arg624Ter) rs754818927
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter) rs878855246
NM_177438.3(DICER1):c.2650+1G>A rs886037691
NM_177438.3(DICER1):c.2988-2A>G rs1595372950
NM_177438.3(DICER1):c.3007C>T (p.Arg1003Ter) rs1060503605
NM_177438.3(DICER1):c.3273C>G (p.Tyr1091Ter) rs886037698
NM_177438.3(DICER1):c.4309_4312del (p.Asp1437fs) rs886037712
NM_177438.3(DICER1):c.4605_4606del (p.Cys1535fs) rs886037717
NM_177438.3(DICER1):c.5125G>A (p.Asp1709Asn) rs1595331264
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_177438.3(DICER1):c.869C>A (p.Ser290Ter) rs1595447658
NM_177438.3(DICER1):c.947G>A (p.Trp316Ter) rs1555374839
NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer) rs1281024431
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs) rs1560086701
NM_181486.4(TBX5):c.663+1G>A rs1871328488
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter) rs367669362
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs) rs754883449
NM_182925.5(FLT4):c.2815del (p.Leu939fs)
NM_182925.5(FLT4):c.3019dup (p.Ser1007fs)
NM_182943.3(PLOD2):c.2122-2A>G
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) rs794727986
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter) rs2154331501
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194454.3(KRIT1):c.1031del (p.Gly344fs) rs1563279045
NM_194454.3(KRIT1):c.1146+1G>A rs886039401
NM_194454.3(KRIT1):c.1147-13C>G rs779465895
NM_194454.3(KRIT1):c.1201C>T (p.Gln401Ter) rs1331502949
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_194454.3(KRIT1):c.1237_1240del (p.Glu413fs) rs1563275256
NM_194454.3(KRIT1):c.1255-1G>A rs1563267100
NM_194454.3(KRIT1):c.1255-1_1256del rs1554514380
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter) rs886039402
NM_194454.3(KRIT1):c.1306_1310del (p.Leu436fs) rs1563266658
NM_194454.3(KRIT1):c.1362_1363del (p.Gln455fs) rs1180476377
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter) rs1563265959
NM_194454.3(KRIT1):c.1412-2A>C rs1563264113
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_194454.3(KRIT1):c.1513C>T (p.Gln505Ter) rs1563263366
NM_194454.3(KRIT1):c.151_154del (p.Lys51fs) rs886041209
NM_194454.3(KRIT1):c.152_155del (p.Lys51fs) rs886039400
NM_194454.3(KRIT1):c.1563+1G>A rs549591728
NM_194454.3(KRIT1):c.1593_1594del (p.Leu531_Phe532insTer)
NM_194454.3(KRIT1):c.1657dup (p.Thr553fs) rs1563245290
NM_194454.3(KRIT1):c.1702_1703del (p.Glu567_Ser568insTer) rs1554504484
NM_194454.3(KRIT1):c.1710del (p.Lys570fs) rs1563244807
NM_194454.3(KRIT1):c.1730+4_1730+7del rs1563244596
NM_194454.3(KRIT1):c.1730+5G>A rs1563244618
NM_194454.3(KRIT1):c.1807del (p.His603fs) rs886039572
NM_194454.3(KRIT1):c.1815C>G (p.Tyr605Ter) rs1563242500
NM_194454.3(KRIT1):c.1849G>T (p.Glu617Ter) rs1554503116
NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter) rs1563211627
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter) rs1563313372
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter) rs866982998
NM_194454.3(KRIT1):c.679dup (p.Thr227fs) rs1563305588
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
NM_194454.3(KRIT1):c.730-1G>A rs1554527922
NM_194454.3(KRIT1):c.829_832dup (p.Val278fs)
NM_194454.3(KRIT1):c.842del (p.Asp281fs) rs1563302951
NM_194454.3(KRIT1):c.845+1G>A rs1563302941
NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter) rs764960797
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169
NM_198239.2(CCN6):c.621_622delinsT (p.Lys207fs)
NM_198253.3(TERT):c.1174_1175del (p.Leu392fs)
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs) rs1266192229
NM_198525.3(KIF7):c.1640dup (p.Arg549fs)
NM_201253.3(CRB1):c.3687C>A (p.Cys1229Ter)
NM_203475.3(PORCN):c.1076_1077dup (p.Val360fs)
NM_203475.3(PORCN):c.661del (p.Leu221fs)
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207037.2(TCF12):c.1073C>G (p.Ser358Ter)
NM_207122.2(EXT2):c.454_457del (p.Val154fs) rs864309636
NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter) rs121918281
NM_207122.2(EXT2):c.744-2A>C rs864309638
NM_207122.2(EXT2):c.937C>T (p.Gln313Ter) rs763718818
NM_207361.6(FREM2):c.3297dup (p.Asp1100Ter)
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213653.4(HJV):c.302T>C (p.Leu101Pro) rs74315327

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