ClinVar Miner

List of variants reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4729
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
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_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_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 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_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
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_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00202
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
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_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 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_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000787.4(DBH):c.339+2T>C rs74853476 0.00106
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
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_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 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_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
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_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_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_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_022356.4(P3H1):c.1080+1G>T rs72659351 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 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_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 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_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_001145026.2(PTPRQ):c.1359+2T>C rs377572771 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) rs121917814 0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 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_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00047
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_001130987.2(DYSF):c.2697+1G>A rs140108514 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
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_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_001059.3(TACR3):c.824G>A (p.Trp275Ter) rs144292455 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000048.4(ASL):c.532G>A (p.Val178Met) rs28941473 0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538 0.00031
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro) rs121434373 0.00026
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 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_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs) rs72549380 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) rs137852672 0.00022
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 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_001918.5(DBT):c.670G>T (p.Glu224Ter) rs74103423 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000283.4(PDE6B):c.1860del (p.His620fs) rs769671323 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 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_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128 0.00018
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760 0.00018
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_017433.5(MYO3A):c.2506-1G>A rs201023600 0.00018
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000392.5(ABCC2):c.3258+1G>A rs762243203 0.00017
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter) rs180671269 0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165 0.00017
NM_005142.3(CBLIF):c.79+1G>A rs147785187 0.00017
NM_006214.4(PHYH):c.135-2A>G rs201578674 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823 0.00016
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004826.4(ECEL1):c.997C>T (p.Arg333Ter) rs370167241 0.00016
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00015
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574 0.00015
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 0.00015
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_001134665.3(TRMT10A):c.79G>T (p.Glu27Ter) rs142895837 0.00015
NM_002437.5(MPV17):c.461+2T>C rs138199394 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) rs398124598 0.00015
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00014
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802 0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys) rs147611168 0.00014
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924 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_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_014384.3(ACAD8):c.384G>A (p.Met128Ile) rs374317179 0.00014
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln) rs376107921 0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00013
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324 0.00013
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_018076.5(ODAD2):c.1669G>T (p.Glu557Ter) rs145742175 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_213599.3(ANO5):c.1960C>T (p.Arg654Ter) rs1488095558 0.00013
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 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_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_000283.4(PDE6B):c.1540del (p.Leu514fs) rs398123298 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_002905.5(RDH5):c.839G>A (p.Arg280His) rs62638193 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_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_005535.3(IL12RB1):c.94C>T (p.Gln32Ter) rs121434492 0.00011
NM_016180.5(SLC45A2):c.264del (p.Gly89fs) rs775387808 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter) rs756854513 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) rs118204026 0.00010
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283 0.00009
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs) rs761897806 0.00009
NM_000070.3(CAPN3):c.2362_2363insTC (p.Arg788fs) rs80338804 0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter) rs17222547 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443 0.00009
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) rs762334954 0.00009
NM_020533.3(MCOLN1):c.406-2A>G rs104886461 0.00009
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs) rs730882143 0.00009
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525 0.00008
NM_000048.4(ASL):c.446+1G>A rs142637046 0.00008
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer) rs756016704 0.00008
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228 0.00008
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter) rs201943194 0.00008
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) rs138958917 0.00008
NM_001378615.1(CC2D2A):c.1017+1G>A rs200407856 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_002617.4(PEX10):c.704dup (p.Leu236fs) rs61750435 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407 0.00008
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter) rs121908613 0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr) rs370011798 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) rs121434278 0.00007
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 0.00007
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00007
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964 0.00007
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) rs200737038 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556 0.00006
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly) rs201736037 0.00006
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs) rs387906315 0.00006
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141 0.00006
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 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_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561 0.00006
NM_000392.5(ABCC2):c.974C>G (p.Ser325Ter) rs371866713 0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_000463.3(UGT1A1):c.864+1G>C rs587776764 0.00006
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00006
NM_000486.6(AQP2):c.763C>T (p.Gln255Ter) rs370879515 0.00006
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter) rs727503968 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001159773.2(CANT1):c.277_278del (p.Leu93fs) rs587776897 0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294 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_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg) rs398124641 0.00006
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val) rs111033609 0.00006
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061 0.00006
NM_001384474.1(LOXHD1):c.4376-2A>G rs886043616 0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_003742.4(ABCB11):c.2012-8T>G rs769910565 0.00006
NM_004320.6(ATP2A1):c.2774dup (p.Met925fs) rs398124555 0.00006
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu) rs398124152 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter) rs730882150 0.00006
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter) rs368928190 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_022464.5(SIL1):c.1030-9G>A rs370290043 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_031433.4(MFRP):c.642-2A>G rs376898612 0.00006
NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter) rs151001642 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_152732.5(RSPH9):c.466C>T (p.Arg156Ter) rs376496894 0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_213599.3(ANO5):c.41-1G>A rs398124625 0.00006
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) rs373458753 0.00005
NM_000048.4(ASL):c.544C>T (p.Arg182Ter) rs398123126 0.00005
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000 0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285 0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000070.3(CAPN3):c.258dup (p.Leu87fs) rs753360208 0.00005
NM_000155.4(GALT):c.253-2A>G rs111033661 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020 0.00005
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101 0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205 0.00005
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384 0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000448.3(RAG1):c.256_257del (p.Lys86fs) rs772962160 0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter) rs372893383 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 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_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001374385.1(ATP8B1):c.2286-2A>G rs377132123 0.00005
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter) rs150547274 0.00005
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520 0.00005
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter) rs376879175 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961 0.00005
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731 0.00005
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_080916.3(DGUOK):c.591G>A (p.Gln197=) rs748597500 0.00005
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502 0.00005
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) rs863224959 0.00004
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518 0.00004
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254 0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205 0.00004
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000182.5(HADHA):c.919-2A>G rs200017313 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00004
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_000232.5(SGCB):c.1_2del (p.Met1fs) rs886042503 0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251 0.00004
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) rs727504022 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) rs137852699 0.00004
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000359.3(TGM1):c.876+2T>C rs151054393 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000392.5(ABCC2):c.2443C>T (p.Arg815Ter) rs773850184 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) rs121913572 0.00004
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) rs146591309 0.00004
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) rs193922464 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_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.2988G>A (p.Gln996=) rs121908797 0.00004
NM_000492.4(CFTR):c.579+1G>T rs77188391 0.00004
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser) rs146093755 0.00004
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg) rs727504166 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) rs794727208 0.00004
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769 0.00004
NM_001126108.2(SLC12A3):c.3026G>A (p.Arg1009Gln) rs370175770 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406 0.00004
NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter) rs777678022 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter) rs369742878 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter) rs863225163 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003907.3(EIF2B5):c.241G>A (p.Glu81Lys) rs113994047 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004369.4(COL6A3):c.8966-1G>C rs767517186 0.00004
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151 0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209 0.00004
NM_005732.4(RAD50):c.3553C>T (p.Arg1185Ter) rs778555849 0.00004
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426 0.00004
NM_014780.5(CUL7):c.2164C>T (p.Arg722Ter) rs886042376 0.00004
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn) rs28942109 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) rs587778819 0.00004
NM_020366.4(RPGRIP1):c.1468-2A>G rs751342895 0.00004
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_020366.4(RPGRIP1):c.3749-2A>G rs376517859 0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_020779.4(WDR35):c.1255+1G>A rs371669862 0.00004
NM_020812.4(DOCK6):c.4491+1G>A rs772543889 0.00004
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter) rs377046630 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_139343.3(BIN1):c.1371+1G>T rs556129959 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_182961.4(SYNE1):c.15918-12A>G rs606231134 0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter) rs566415362 0.00004
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter) rs368970223 0.00004
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) rs398123072 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000070.3(CAPN3):c.1993-1G>A rs369552114 0.00003
NM_000070.3(CAPN3):c.802-9G>A rs761211705 0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) rs121964972 0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) rs781444670 0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met) rs149119723 0.00003
NM_000080.4(CHRNE):c.971del (p.Ile324fs) rs879255562 0.00003
NM_000082.4(ERCC8):c.1017C>A (p.Cys339Ter) rs753663016 0.00003
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874 0.00003
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg) rs752002666 0.00003
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814 0.00003
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670 0.00003
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693 0.00003
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735 0.00003
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp) rs439898 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) rs381418 0.00003
NM_000159.4(GCDH):c.1244-2A>C rs199999619 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967 0.00003
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter) rs773724817 0.00003
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590 0.00003
NM_000277.3(PAH):c.168+5G>C rs62507288 0.00003
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) rs62514902 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222 0.00003
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939 0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu) rs386833650 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000392.5(ABCC2):c.1893C>A (p.Cys631Ter) rs1257076487 0.00003
NM_000392.5(ABCC2):c.3500dup (p.Ser1168fs) rs1333544687 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351 0.00003
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373 0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 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.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000532.5(PCCB):c.1398+1G>T rs794727092 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.2681+1G>A rs201201443 0.00003
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) rs771853367 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter) rs575064188 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171 0.00003
NM_001077365.2(POMT1):c.2004-1G>C rs745738628 0.00003
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter) rs370627877 0.00003
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter) rs758944159 0.00003
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter) rs727503911 0.00003
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs) rs778065845 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001305581.2(LRMDA):c.256C>T (p.Arg86Ter) rs886043155 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666 0.00003
NM_001848.3(COL6A1):c.1693C>T (p.Arg565Ter) rs1304888945 0.00003
NM_001849.4(COL6A2):c.1461del (p.Ser488fs) rs398123645 0.00003
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714 0.00003
NM_002303.6(LEPR):c.93G>A (p.Trp31Ter) rs945135468 0.00003
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 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_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648 0.00003
NM_003235.5(TG):c.6379C>T (p.Arg2127Ter) rs375424292 0.00003
NM_003322.6(TULP1):c.725_728del (p.Pro242fs) rs771723580 0.00003
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg) rs763782349 0.00003
NM_003742.4(ABCB11):c.908+1G>A rs147649016 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004260.4(RECQL4):c.1259-1G>A rs372380880 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388 0.00003
NM_004817.4(TJP2):c.1771C>T (p.Arg591Ter) rs764379398 0.00003
NM_005422.4(TECTA):c.5826C>A (p.Tyr1942Ter) rs955468054 0.00003
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517 0.00003
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_006363.6(SEC23B):c.689+1G>A rs398124226 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_013382.7(POMT2):c.1006+1G>A rs533916138 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_015102.5(NPHP4):c.2611+1G>A rs374141736 0.00003
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter) rs771720649 0.00003
NM_016356.5(DCDC2):c.349-2A>G rs760040426 0.00003
NM_018668.5(VPS33B):c.239+5G>A rs372769808 0.00003
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002 0.00003
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_021939.4(FKBP10):c.1399+2T>G rs886044880 0.00003
NM_022370.4(ROBO3):c.2427G>A (p.Trp809Ter) rs372821877 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572 0.00003
NM_198525.3(KIF7):c.61C>T (p.Arg21Ter) rs794727316 0.00003
NM_199242.3(UNC13D):c.753+1G>T rs201908137 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys) rs137854527 0.00003
NM_213599.3(ANO5):c.2176dup (p.Ser726fs) rs797044667 0.00003
NM_213599.3(ANO5):c.762+1G>A rs372221490 0.00003
NM_000016.6(ACADM):c.233T>C (p.Ile78Thr) rs398123074 0.00002
NM_000016.6(ACADM):c.244dup (p.Trp82fs) rs786204566 0.00002
NM_000016.6(ACADM):c.617G>A (p.Arg206His) rs200724875 0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000048.4(ASL):c.637C>T (p.Arg213Ter) rs761651320 0.00002
NM_000070.3(CAPN3):c.1801-1G>A rs886043752 0.00002
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter) rs768090444 0.00002
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290 0.00002
NM_000070.3(CAPN3):c.2440-1G>A rs886044052 0.00002
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg) rs778220779 0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000153.4(GALC):c.430del (p.Ile144fs) rs775277935 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000155.4(GALT):c.688-2A>C rs398123185 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000255.4(MMUT):c.1084-10A>G rs777031588 0.00002
NM_000271.5(NPC1):c.2830G>A (p.Asp944Asn) rs748837410 0.00002
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000277.3(PAH):c.508C>G (p.His170Asp) rs199475655 0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687 0.00002
NM_000277.3(PAH):c.809G>A (p.Arg270Lys) rs62514950 0.00002
NM_000282.4(PCCA):c.232-1G>A rs794727620 0.00002
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) rs794726976 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953 0.00002
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000341.4(SLC3A1):c.1500+1G>T rs886042834 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602 0.00002
NM_000372.5(TYR):c.1037-2A>G rs748901196 0.00002
NM_000392.5(ABCC2):c.3463del (p.Thr1155fs) rs919078015 0.00002
NM_000392.5(ABCC2):c.3538C>T (p.Gln1180Ter) rs183923599 0.00002
NM_000392.5(ABCC2):c.3811C>T (p.Arg1271Ter) rs761406918 0.00002
NM_000392.5(ABCC2):c.697dup (p.Met233fs) rs1314486961 0.00002
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418 0.00002
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881 0.00002
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter) rs758775001 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000443.4(ABCB4):c.2211+1G>A rs794727183 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro) rs139573311 0.00002
NM_000492.4(CFTR):c.274-1G>A rs121908792 0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) rs36210737 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000512.5(GALNS):c.1171A>G (p.Met391Val) rs398123429 0.00002
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_000709.4(BCKDHA):c.288+1G>A rs398123496 0.00002
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) rs375785084 0.00002
NM_000939.4(POMC):c.251G>A (p.Trp84Ter) rs781244602 0.00002
NM_001004334.4(GPR179):c.673C>T (p.Gln225Ter) rs747682469 0.00002
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NM_001083961.2(WDR62):c.1941C>A (p.Cys647Ter) rs769688376 0.00002
NM_001083961.2(WDR62):c.3514+1G>A rs199736219 0.00002
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 0.00002
NM_001130987.2(DYSF):c.1380+2T>C rs398123765 0.00002
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) rs202218890 0.00002
NM_001130987.2(DYSF):c.3403-2A>G rs370874727 0.00002
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696 0.00002
NM_001360016.2(G6PD):c.98T>C (p.Ile33Thr) rs398123552 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001377.3(DYNC2H1):c.10024C>T (p.Arg3342Ter) rs751891969 0.00002
NM_001377.3(DYNC2H1):c.11681C>G (p.Ser3894Ter) rs776315442 0.00002
NM_001377.3(DYNC2H1):c.12156+1G>A rs794727944 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872 0.00002
NM_001377.3(DYNC2H1):c.8947-1G>T rs727503908 0.00002
NM_001384474.1(LOXHD1):c.6130C>T (p.Arg2044Ter) rs1306586204 0.00002
NM_001385.3(DPYS):c.424-1G>A rs879851088 0.00002
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) rs386134210 0.00002
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter) rs72549396 0.00002
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) rs113994048 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys) rs762106720 0.00002
NM_005529.7(HSPG2):c.10894C>T (p.Arg3632Ter) rs762281715 0.00002
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208 0.00002
NM_006059.4(LAMC3):c.2430C>A (p.Cys810Ter) rs769118642 0.00002
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter) rs199939108 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_014797.3(ZBTB24):c.47C>G (p.Ser16Ter) rs370370334 0.00002
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter) rs1210874691 0.00002
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648 0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295 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_019109.5(ALG1):c.1187+1G>A rs374928784 0.00002
NM_019109.5(ALG1):c.1188-2A>G rs794727073 0.00002
NM_020166.5(MCCC1):c.137-2A>G rs727504006 0.00002
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_020247.5(COQ8A):c.1742dup (p.Ser582fs) rs772127266 0.00002
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter) rs377215510 0.00002
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134 0.00002
NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser) rs747806672 0.00002
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110 0.00002
NM_024312.5(GNPTAB):c.377T>A (p.Leu126Ter) rs774506925 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_024809.5(TCTN2):c.1506-2A>G rs374349989 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562 0.00002
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs) rs775835429 0.00002
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434 0.00002
NM_052989.3(IFT122):c.1148-1G>C rs755005244 0.00002
NM_054012.4(ASS1):c.1194-1G>C rs727503814 0.00002
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106 0.00002
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter) rs375077588 0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) rs398124561 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter) rs121434364 0.00002
NM_213622.4(STAMBP):c.1270C>T (p.Arg424Ter) rs397509390 0.00002
NM_000016.6(ACADM):c.447G>A (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113 0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083 0.00001
NM_000018.4(ACADVL):c.753-2A>C rs398123092 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144 0.00001
NM_000019.4(ACAT1):c.826+1G>T rs727503796 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.489del (p.Leu164fs) rs753650776 0.00001
NM_000023.4(SGCA):c.530del (p.Ser177fs) rs886041387 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000023.4(SGCA):c.585-1G>A rs1342189589 0.00001
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225 0.00001
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608 0.00001
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000048.4(ASL):c.280C>T (p.Arg94Cys) rs374304304 0.00001
NM_000048.4(ASL):c.602+1G>A rs398123127 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs) rs886043423 0.00001
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter) rs80358711 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter) rs766334893 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1194-9A>G rs374665929 0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) rs863224956 0.00001
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359 0.00001
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp) rs863224957 0.00001
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter) rs886042439 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544 0.00001
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) rs762471207 0.00001
NM_000070.3(CAPN3):c.2185-2A>G rs886041335 0.00001
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys) rs764459544 0.00001
NM_000070.3(CAPN3):c.2290del (p.Asp764fs) rs886044527 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912 0.00001
NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter) rs878854364 0.00001
NM_000070.3(CAPN3):c.853dup (p.Glu285fs) rs761257703 0.00001
NM_000071.3(CBS):c.28del (p.Val10fs) rs779250698 0.00001
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642 0.00001
NM_000094.4(COL7A1):c.3971del (p.Leu1324fs) rs886044621 0.00001
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer) rs1207177925 0.00001
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter) rs886044640 0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000143.4(FH):c.560C>G (p.Ser187Ter) rs398123166 0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys) rs587781682 0.00001
NM_000144.5(FXN):c.317T>C (p.Leu106Ser) rs104894105 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609 0.00001
NM_000152.5(GAA):c.1754+1G>A rs886043399 0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794 0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) rs369532274 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000153.4(GALC):c.169G>A (p.Gly57Ser) rs11623 0.00001
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000155.4(GALT):c.199C>T (p.Arg67Cys) rs111033658 0.00001
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) rs1225091358 0.00001
NM_000155.4(GALT):c.386T>C (p.Met129Thr) rs111033683 0.00001
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695 0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736 0.00001
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737 0.00001
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) rs398123532 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000159.4(GCDH):c.636-1G>A rs398123195 0.00001
NM_000159.4(GCDH):c.770G>A (p.Arg257Gln) rs751583656 0.00001
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln) rs28935493 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000169.3(GLA):c.124A>C (p.Met42Leu) rs797044613 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.679C>T (p.Arg227Ter) rs104894841 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778 0.00001
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) rs398123234 0.00001
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter) rs148200568 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240 0.00001
NM_000203.5(IDUA):c.299+1G>T rs398123259 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000214.3(JAG1):c.694+1G>T rs876660979 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.752del (p.Thr251fs) rs886042749 0.00001
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs) rs753796180 0.00001
NM_000245.4(MET):c.3281A>G (p.His1094Arg) rs121913243 0.00001
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303 0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) rs121913631 0.00001
NM_000260.4(MYO7A):c.133G>T (p.Glu45Ter) rs368877140 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg) rs761469964 0.00001
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285 0.00001
NM_000263.4(NAGLU):c.383+1G>T rs727504028 0.00001
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792 0.00001
NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter) rs775629081 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972 0.00001
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108 0.00001
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000277.3(PAH):c.1200-1G>A rs62507322 0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.441+5G>T rs62507321 0.00001
NM_000277.3(PAH):c.442-5C>G rs62514909 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.842+3G>C rs62507324 0.00001
NM_000277.3(PAH):c.847A>T (p.Ile283Phe) rs62517168 0.00001
NM_000277.3(PAH):c.912+1G>A rs62514956 0.00001
NM_000277.3(PAH):c.913-7A>G rs62517165 0.00001
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935 0.00001
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704 0.00001
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309 0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys) rs386833655 0.00001
NM_000318.3(PEX2):c.624dup (p.Pro209fs) rs1438831421 0.00001
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) rs121913302 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893 0.00001
NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter) rs748357067 0.00001
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979 0.00001
NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter) rs911580078 0.00001
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter) rs61752406 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.564del (p.Glu189fs) rs886044148 0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038 0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654 0.00001
NM_000372.5(TYR):c.658C>T (p.Gln220Ter) rs797046083 0.00001
NM_000392.5(ABCC2):c.1291del (p.Leu431fs) rs1208873596 0.00001
NM_000392.5(ABCC2):c.2260del (p.Ile754fs) rs1564687941 0.00001
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs) rs772673105 0.00001
NM_000392.5(ABCC2):c.2426del (p.Leu809fs) rs765580991 0.00001
NM_000392.5(ABCC2):c.3517A>T (p.Ile1173Phe) rs72558201 0.00001
NM_000392.5(ABCC2):c.3580C>T (p.Gln1194Ter) rs559137047 0.00001
NM_000392.5(ABCC2):c.821_822del (p.Pro274fs) rs1158274146 0.00001
NM_000404.4(GLB1):c.1479+1G>A rs1022476871 0.00001
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) rs794727165 0.00001
NM_000404.4(GLB1):c.397-1G>A rs398123353 0.00001
NM_000404.4(GLB1):c.75+1G>C rs398123358 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000426.4(LAMA2):c.112+1G>A rs398123367 0.00001
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) rs202247791 0.00001
NM_000426.4(LAMA2):c.2749+1G>C rs759555791 0.00001
NM_000426.4(LAMA2):c.396+1G>T rs770617208 0.00001
NM_000426.4(LAMA2):c.4523+1G>A rs398123375 0.00001
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs) rs398123377 0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378 0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000434.4(NEU1):c.727G>A (p.Gly243Arg) rs104893983 0.00001
NM_000440.3(PDE6A):c.2183G>A (p.Trp728Ter) rs1561679951 0.00001
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430 0.00001
NM_000443.4(ABCB4):c.1006-1G>T rs772823352 0.00001
NM_000443.4(ABCB4):c.1144G>T (p.Glu382Ter) rs1554407511 0.00001
NM_000443.4(ABCB4):c.139C>T (p.Arg47Ter) rs376926391 0.00001
NM_000443.4(ABCB4):c.2833C>T (p.Gln945Ter) rs886042562 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_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000451.4(SHOX):c.440G>A (p.Arg147His) rs886043634 0.00001
NM_000451.4(SHOX):c.583C>T (p.Arg195Ter) rs137852552 0.00001
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) rs121912441 0.00001
NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp) rs139607673 0.00001
NM_000463.3(UGT1A1):c.1069C>T (p.Gln357Ter) rs72551350 0.00001
NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs) rs766536479 0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.1559del (p.Leu520fs) rs387906525 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000487.6(ARSA):c.1210+1G>A rs80338820 0.00001
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414 0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366 0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter) rs77101217 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000492.4(CFTR):c.1766+3A>G rs397508298 0.00001
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter) rs121908765 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000497.4(CYP11B1):c.595+1G>A rs1264073726 0.00001
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter) rs398123439 0.00001
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe) rs118204444 0.00001
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000521.4(HEXB):c.1243-2A>G rs398123446 0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903 0.00001
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457 0.00001
NM_000532.5(PCCB):c.3G>A (p.Met1Ile) rs398123464 0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000543.5(SMPD1):c.1341-1G>A rs1057516854 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 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_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NM_000557.5(GDF5):c.158del (p.Leu53fs) rs886042462 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) rs398123503 0.00001
NM_000709.4(BCKDHA):c.854-2A>G rs760494152 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg) rs137852875 0.00001
NM_000784.4(CYP27A1):c.1185-1G>A rs587778779 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.446+1G>A rs587778797 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_000823.4(GHRHR):c.194G>A (p.Trp65Ter) rs1562592874 0.00001
NM_000843.4(GRM6):c.1462C>T (p.Gln488Ter) rs748979061 0.00001
NM_001004334.4(GPR179):c.1543C>T (p.Arg515Ter) rs980007216 0.00001
NM_001005242.3(PKP2):c.1379-1998C>T rs151212477 0.00001
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.796-1G>T rs779828095 0.00001
NM_001015880.2(PAPSS2):c.1000C>T (p.Arg334Ter) rs121908952 0.00001
NM_001042432.2(CLN3):c.906+2T>A rs771788391 0.00001
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter) rs756973046 0.00001
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615 0.00001
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) rs119462985 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.699+67G>A rs776061161 0.00001
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990 0.00001
NM_001079802.2(FKTN):c.369+1G>C rs764125009 0.00001
NM_001079802.2(FKTN):c.911-1G>A rs958678700 0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992 0.00001
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.1865del (p.Thr622fs) rs386833771 0.00001
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) rs752858869 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001130987.2(DYSF):c.1033+1G>A rs201869739 0.00001
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.1692+2T>A rs398123771 0.00001
NM_001130987.2(DYSF):c.1693-6T>A rs886039573 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768 0.00001
NM_001130987.2(DYSF):c.2010G>A (p.Trp670Ter) rs794727343 0.00001
NM_001130987.2(DYSF):c.2217-2A>G rs747289205 0.00001
NM_001130987.2(DYSF):c.2409+1G>A rs151317754 0.00001
NM_001130987.2(DYSF):c.2923C>T (p.Gln975Ter) rs398123776 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs) rs748542672 0.00001
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter) rs886042091 0.00001
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782 0.00001
NM_001130987.2(DYSF):c.3824G>A (p.Trp1275Ter) rs1553376538 0.00001
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg) rs776472879 0.00001
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter) rs769721856 0.00001
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter) rs886044411 0.00001
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter) rs398123789 0.00001
NM_001130987.2(DYSF):c.4911+1G>T rs777216777 0.00001
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter) rs886044422 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001130987.2(DYSF):c.5458-1G>A rs886042879 0.00001
NM_001130987.2(DYSF):c.5458-2A>C rs398123792 0.00001
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn) rs398123794 0.00001
NM_001130987.2(DYSF):c.5761C>T (p.Gln1921Ter) rs398123795 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001130987.2(DYSF):c.5884+1G>A rs756689063 0.00001
NM_001130987.2(DYSF):c.6099_6106dup (p.His2036fs) rs886042318 0.00001
NM_001130987.2(DYSF):c.889-2A>G rs934428561 0.00001
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg) rs121908963 0.00001
NM_001134831.2(AHI1):c.1235dup (p.Leu413fs) rs772289223 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs) rs1472403020 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001199397.3(NEK1):c.869-1G>T rs794727032 0.00001
NM_001243279.3(ACSF3):c.1502-2A>G rs1188774860 0.00001
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter) rs1485132228 0.00001
NM_001256789.3(CACNA1F):c.1504C>T (p.Arg502Ter) rs1365490247 0.00001
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter) rs797044676 0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A rs886044841 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001277115.2(DNAH11):c.9706C>T (p.Arg3236Ter) rs753101269 0.00001
NM_001289104.2(PRKCSH):c.1534G>T (p.Glu512Ter) rs398123688 0.00001
NM_001297.5(CNGB1):c.2128C>T (p.Gln710Ter) rs754786301 0.00001
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) rs372504780 0.00001
NM_001353214.3(DYM):c.621-2A>G rs775414124 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser) rs104886035 0.00001
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter) rs104886039 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220 0.00001
NM_001363711.2(DUOX2):c.1085_1103dup (p.Val369fs) rs1595527456 0.00001
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln) rs1202682161 0.00001
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter) rs515726137 0.00001
NM_001374385.1(ATP8B1):c.2097+2T>C rs387906381 0.00001
NM_001374385.1(ATP8B1):c.279G>A (p.Ala93=) rs761575295 0.00001
NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter) rs765889649 0.00001
NM_001378609.3(OTOGL):c.3103C>T (p.Gln1035Ter) rs886044647 0.00001
NM_001378615.1(CC2D2A):c.1696G>T (p.Glu566Ter) rs780814559 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_001609.4(ACADSB):c.295C>T (p.Gln99Ter) rs760791287 0.00001
NM_001793.6(CDH3):c.1085G>A (p.Trp362Ter) rs755910254 0.00001
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg) rs104894208 0.00001
NM_001849.4(COL6A2):c.1396-1G>A rs1331260332 0.00001
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610 0.00001
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) rs80356780 0.00001
NM_001876.4(CPT1A):c.281+1G>A rs191107774 0.00001
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) rs398123660 0.00001
NM_001918.5(DBT):c.434-15_434-4del rs727503895 0.00001
NM_001918.5(DBT):c.871C>T (p.Arg291Ter) rs398123675 0.00001
NM_001918.5(DBT):c.939G>C (p.Lys313Asn) rs398123676 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter) rs368705240 0.00001
NM_002225.5(IVD):c.397_398del (p.Cys133fs) rs398123682 0.00001
NM_002225.5(IVD):c.456+2T>C rs398123683 0.00001
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684 0.00001
NM_002225.5(IVD):c.784+1G>A rs763471771 0.00001
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) rs886043590 0.00001
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) rs121909723 0.00001
NM_002437.5(MPV17):c.409-1G>C rs886044280 0.00001
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002905.5(RDH5):c.814_815del (p.Leu272fs) rs765714290 0.00001
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) rs751000085 0.00001
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter) rs121908887 0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159 0.00001
NM_003060.4(SLC22A5):c.394-2A>C rs377724489 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003630.3(PEX3):c.288-1G>A rs752904598 0.00001
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter) rs141019458 0.00001
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835 0.00001
NM_003742.4(ABCB11):c.1408C>T (p.Arg470Ter) rs774824767 0.00001
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly) rs72549402 0.00001
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val) rs917981474 0.00001
NM_003742.4(ABCB11):c.2178+1G>A rs1459273753 0.00001
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter) rs886043986 0.00001
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) rs1060499579 0.00001
NM_003742.4(ABCB11):c.2782C>T (p.Arg928Ter) rs756529333 0.00001
NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs) rs752919965 0.00001
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter) rs72549397 0.00001
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln) rs758069019 0.00001
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter) rs121908490 0.00001
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer) rs794727794 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004006.3(DMD):c.5739+1G>T rs886043041 0.00001
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter) rs128626249 0.00001
NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter) rs781043870 0.00001
NM_004407.4(DMP1):c.98G>A (p.Trp33Ter) rs766601503 0.00001
NM_004917.5(KLK4):c.632del (p.Leu211fs) rs556734208 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410 0.00001
NM_005559.4(LAMA1):c.1942_1948del (p.Phe648fs) rs754361205 0.00001
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252 0.00001
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668 0.00001
NM_005989.4(AKR1D1):c.583G>T (p.Glu195Ter) rs1433614577 0.00001
NM_006294.5(UQCRB):c.306_309del (p.Arg105fs) rs886043294 0.00001
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val) rs398124225 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter) rs80356989 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012210.4(TRIM32):c.691del (p.Ala231fs) rs747685252 0.00001
NM_012233.3(RAB3GAP1):c.475_478del (p.Thr159fs) rs886043202 0.00001
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter) rs368817785 0.00001
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter) rs119463989 0.00001
NM_013382.7(POMT2):c.248+2T>C rs1326631351 0.00001
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter) rs764878423 0.00001
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter) rs775932206 0.00001
NM_014140.4(SMARCAL1):c.415_416del (p.Leu139fs) rs781023326 0.00001
NM_014141.6(CNTNAP2):c.2153G>A (p.Trp718Ter) rs398124268 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) rs80338725 0.00001
NM_014251.3(SLC25A13):c.70-1G>A rs962082210 0.00001
NM_014639.4(SKIC3):c.3364del (p.Thr1122fs) rs774405964 0.00001
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter) rs746333044 0.00001
NM_014780.5(CUL7):c.2710C>T (p.Arg904Ter) rs760910667 0.00001
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter) rs748555538 0.00001
NM_014780.5(CUL7):c.4717C>T (p.Arg1573Ter) rs749509661 0.00001
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter) rs1025515771 0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129 0.00001
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter) rs386834001 0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) rs267607042 0.00001
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) rs781546107 0.00001
NM_016239.4(MYO15A):c.3866+1G>A rs374742590 0.00001
NM_016247.4(IMPG2):c.829-1G>T rs776740276 0.00001
NM_016341.4(PLCE1):c.5890C>T (p.Arg1964Ter) rs775052849 0.00001
NM_016363.5(GP6):c.479G>A (p.Trp160Ter) rs886043669 0.00001
NM_016729.3(FOLR1):c.352C>T (p.Gln118Ter) rs121918405 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039 0.00001
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390 0.00001
NM_018668.5(VPS33B):c.1246C>T (p.Arg416Ter) rs780626848 0.00001
NM_018668.5(VPS33B):c.940-2A>G rs774529051 0.00001
NM_019098.5(CNGB3):c.1255G>T (p.Glu419Ter) rs372302139 0.00001
NM_020166.5(MCCC1):c.640-2A>G rs772395858 0.00001
NM_020347.4(LZTFL1):c.322C>T (p.Arg108Ter) rs769327864 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354 0.00001
NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter) rs794727976 0.00001
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter) rs960468382 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_021615.5(CHST6):c.172C>T (p.Gln58Ter) rs756036451 0.00001
NM_021957.4(GYS2):c.457del (p.Met152_Leu153insTer) rs1307281520 0.00001
NM_022041.4(GAN):c.851+1G>A rs747291494 0.00001
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter) rs866035312 0.00001
NM_022124.6(CDH23):c.146-2A>G rs794727649 0.00001
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs) rs780304038 0.00001
NM_022132.5(MCCC2):c.142C>T (p.Gln48Ter) rs1184301452 0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter) rs727504010 0.00001
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter) rs544500542 0.00001
NM_022437.3(ABCG8):c.64-2A>G rs934115584 0.00001
NM_022464.5(SIL1):c.460C>T (p.Gln154Ter) rs774441811 0.00001
NM_023036.6(DNAI2):c.1697del (p.Asp566fs) rs764971993 0.00001
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter) rs772950604 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) rs1301397800 0.00001
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682 0.00001
NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter) rs1057520771 0.00001
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter) rs761821795 0.00001
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969 0.00001
NM_024312.5(GNPTAB):c.2896del (p.Met966fs) rs398124398 0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836 0.00001
NM_025074.7(FRAS1):c.2722+1G>A rs794727365 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_025114.4(CEP290):c.181-2A>G rs886042359 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.437del (p.Glu146fs) rs1452465499 0.00001
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247 0.00001
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter) rs312262767 0.00001
NM_025137.4(SPG11):c.5757_5758del (p.Glu1921fs) rs771558571 0.00001
NM_025193.4(HSD3B7):c.166+1G>A rs530793570 0.00001
NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys) rs104894518 0.00001
NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs) rs786200876 0.00001
NM_031433.4(MFRP):c.271C>T (p.Gln91Ter) rs1359404443 0.00001
NM_031433.4(MFRP):c.523C>T (p.Gln175Ter) rs121908189 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_032119.4(ADGRV1):c.12823C>T (p.Gln4275Ter) rs768589991 0.00001
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) rs116840778 0.00001
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln) rs771937610 0.00001
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys) rs148918985 0.00001
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp) rs121908642 0.00001
NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile) rs387907150 0.00001
NM_080916.3(DGUOK):c.195G>A (p.Trp65Ter) rs140307681 0.00001
NM_080916.3(DGUOK):c.494A>T (p.Glu165Val) rs770950831 0.00001
NM_130837.3(OPA1):c.1150-2A>G rs886041317 0.00001
NM_130837.3(OPA1):c.1936-2A>G rs747454971 0.00001
NM_130837.3(OPA1):c.2178+1G>A rs1560392160 0.00001
NM_130837.3(OPA1):c.533T>A (p.Leu178Ter) rs727504058 0.00001
NM_133642.5(LARGE1):c.1102C>T (p.Gln368Ter) rs398124181 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766 0.00001
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089 0.00001
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) rs797044713 0.00001
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter) rs727504096 0.00001
NM_138694.4(PKHD1):c.383del (p.Thr128fs) rs868562051 0.00001
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) rs794727566 0.00001
NM_138694.4(PKHD1):c.707+1G>A rs748365248 0.00001
NM_138694.4(PKHD1):c.711_714del (p.Met238fs) rs786204588 0.00001
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter) rs794727680 0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500 0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688 0.00001
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter) rs1057516577 0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503 0.00001
NM_144672.4(OTOA):c.1880+1G>A rs148690740 0.00001
NM_144997.7(FLCN):c.1433-2A>G rs398124528 0.00001
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter) rs397514539 0.00001
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152443.3(RDH12):c.210dup (p.Arg71fs) rs797044761 0.00001
NM_153240.5(NPHP3):c.1472del (p.Met491fs) rs1215965777 0.00001
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) rs119456962 0.00001
NM_153240.5(NPHP3):c.2311-2A>G rs1332659264 0.00001
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter) rs368138001 0.00001
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370 0.00001
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter) rs769443188 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_170707.4(LMNA):c.356+1G>C rs794728589 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_176787.5(PIGN):c.981dup (p.Met328fs) rs776697598 0.00001
NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter) rs760715690 0.00001
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr) rs398124582 0.00001
NM_183050.4(BCKDHB):c.633+1G>A rs398124589 0.00001
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala) rs398124593 0.00001
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) rs398124594 0.00001
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 0.00001
NM_201384.3(PLEC):c.4675C>T (p.Arg1559Ter) rs782185897 0.00001
NM_206933.4(USH2A):c.11047+1G>A rs201730567 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754 0.00001
NM_207352.4(CYP4V2):c.1393A>G (p.Arg465Gly) rs144109267 0.00001
NM_213599.3(ANO5):c.1120-1G>A rs561719071 0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.139-1del rs868484837 0.00001
NM_213599.3(ANO5):c.1406G>A (p.Trp469Ter) rs765427574 0.00001
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter) rs753138577 0.00001
NM_213599.3(ANO5):c.2470del (p.Gln824fs) rs770694933 0.00001
NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter) rs762035813 0.00001
NC_000023.11:g.78195010_79012636del
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.6(ACADM):c.216+2T>G rs398123073
NM_000016.6(ACADM):c.287-1G>C rs794727694
NM_000016.6(ACADM):c.322_325del (p.Ile108fs) rs875989873
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.6(ACADM):c.541_542del (p.Gly180_Asp181insTer) rs1553123871
NM_000016.6(ACADM):c.927del (p.Phe309fs) rs1557458562
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000018.3(ACADVL):c.1375dup rs796051916
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1317dup (p.Met440fs) rs1567567440
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs) rs398123082
NM_000018.4(ACADVL):c.1532+1G>A rs727503794
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs) rs786204713
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) rs727503788
NM_000018.4(ACADVL):c.869dup (p.Ile291fs) rs886044671
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_000019.4(ACAT1):c.1006-4_1006-1delinsAAA rs797044633
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.905del (p.Lys302fs) rs398123097
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs) rs1598277713
NM_000023.4(SGCA):c.115_116insT (p.Thr39fs) rs1567738897
NM_000023.4(SGCA):c.161del (p.Val54fs) rs886044516
NM_000023.4(SGCA):c.168del (p.Ala57fs) rs1555568264
NM_000023.4(SGCA):c.183dup (p.Tyr62fs) rs886044688
NM_000023.4(SGCA):c.203del (p.Gly68fs) rs1567739228
NM_000023.4(SGCA):c.317_318del (p.Thr106fs) rs1567739735
NM_000023.4(SGCA):c.37+2C>G rs112500642
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter) rs1567741398
NM_000023.4(SGCA):c.747+1G>A rs886043392
NM_000023.4(SGCA):c.770del (p.Pro257fs) rs886043962
NM_000023.4(SGCA):c.892del (p.Leu298fs) rs886044512
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000033.4(ABCD1):c.1076_1077del (p.Glu359fs) rs1569540883
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1203del (p.Ile402fs) rs1569541007
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter) rs398123100
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1781-1G>A rs797044781
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter) rs398123107
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1992-2A>G rs797044626
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs) rs797044625
NM_000033.4(ABCD1):c.253dup (p.Arg85fs) rs713993050
NM_000033.4(ABCD1):c.31_46del (p.Arg11fs) rs398123109
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg) rs398123110
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter) rs398123111
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter) rs1057516052
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.302del (p.Lys101fs) rs974582114
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000036.3(AMPD1):c.35-7_35-4del rs398123114
NM_000038.6(APC):c.1548+1G>C rs1114167599
NM_000038.6(APC):c.1621C>T (p.Gln541Ter) rs137854572
NM_000038.6(APC):c.1659G>A (p.Trp553Ter) rs398123116
NM_000038.6(APC):c.2365C>T (p.Gln789Ter) rs398123117
NM_000038.6(APC):c.2483del (p.Thr828fs) rs886042600
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2563_2564del (p.Glu855fs) rs794727160
NM_000038.6(APC):c.2731G>T (p.Glu911Ter) rs398123119
NM_000038.6(APC):c.2805del (p.Thr934_Tyr935insTer) rs398123120
NM_000038.6(APC):c.3088A>T (p.Lys1030Ter) rs587779786
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter) rs398123121
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.6(APC):c.4473dup (p.Ala1492fs) rs398123122
NM_000046.5(ARSB):c.118_134del (p.Gly40fs) rs398123123
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000049.4(ASPA):c.433-2A>G rs63751297
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000052.7(ATP7A):c.1205del (p.Lys402fs) rs398123133
NM_000052.7(ATP7A):c.1974_1977dup (p.Phe660fs) rs886044769
NM_000052.7(ATP7A):c.2694del (p.Ser899fs) rs886044881
NM_000052.7(ATP7A):c.3802-1G>T rs398123135
NM_000052.7(ATP7A):c.3915_3921del (p.Asp1305fs) rs1557238590
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000053.4(ATP7B):c.1605_1609dup (p.Ile537fs) rs886043238
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) rs886042519
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter) rs398123137
NM_000055.4(BCHE):c.100del (p.Ile34fs) rs750309713
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000059.3(BRCA2):c.156_157insAlu
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs) rs80359277
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs) rs80359412
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs) rs80359473
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5723_5727del (p.Leu1908fs) rs794727014
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs) rs80359538
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.6727_6728insAT (p.Ser2243fs) rs1566235284
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.9118-1G>A rs886040950
NM_000067.3(CA2):c.232+1G>A rs573750741
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1043del (p.Gly348fs) rs781013226
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter) rs1555421280
NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter) rs1555421523
NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter) rs1555421524
NM_000070.3(CAPN3):c.1322del (p.Gly441fs) rs1555421871
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1355-1G>C rs747557404
NM_000070.3(CAPN3):c.1373del (p.Pro458fs) rs886043705
NM_000070.3(CAPN3):c.1524+2T>C rs1555422145
NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter) rs752848213
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp) rs727503839
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs) rs886042573
NM_000070.3(CAPN3):c.1771del (p.Asp591fs) rs754761503
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter) rs1566983844
NM_000070.3(CAPN3):c.1863dup (p.Glu622fs) rs886044417
NM_000070.3(CAPN3):c.1957C>T (p.Gln653Ter) rs886042927
NM_000070.3(CAPN3):c.1992+1G>T rs863224961
NM_000070.3(CAPN3):c.1992+2T>A rs775217052
NM_000070.3(CAPN3):c.1999dup (p.Glu667fs) rs886044004
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs) rs886042418
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2115+2T>C rs1555423060
NM_000070.3(CAPN3):c.2179del (p.Trp727fs) rs886042964
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter) rs147774793
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs) rs398123146
NM_000070.3(CAPN3):c.2251_2254dup (p.Asn752fs) rs398123147
NM_000070.3(CAPN3):c.2263+1G>A rs886044475
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs) rs775130589
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.2363delinsTCT (p.Arg788fs) rs1555423219
NM_000070.3(CAPN3):c.237del (p.Glu79fs) rs760205277
NM_000070.3(CAPN3):c.259_262del (p.Leu87fs) rs763649825
NM_000070.3(CAPN3):c.319G>T (p.Glu107Ter) rs1801505
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) rs797045427
NM_000070.3(CAPN3):c.402del (p.Ile135fs) rs746935735
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr) rs794727615
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.580del (p.Ser194fs) rs398123149
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del) rs727503837
NM_000070.3(CAPN3):c.639dup (p.Gly214fs) rs886043222
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000070.3(CAPN3):c.717del (p.Phe239fs) rs776059672
NM_000070.3(CAPN3):c.717dup (p.Glu240Ter) rs776059672
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del) rs794727697
NM_000070.3(CAPN3):c.855_864dup (p.Arg289fs) rs398123150
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) rs863224966
NM_000070.3(CAPN3):c.946-1_948del rs766156798
NM_000071.3(CBS):c.1218del (p.Lys406fs) rs794727083
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs) rs1555871188
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000074.3(CD40LG):c.347-2A>G rs1569377237
NM_000077.5(CDKN2A):c.106dup (p.Ala36fs) rs398123152
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000080.4(CHRNE):c.1093del (p.Ala365fs) rs886043239
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000082.4(ERCC8):c.299dup (p.Tyr100Ter) rs1554074581
NM_000085.5(CLCNKB):c.1166G>A (p.Trp389Ter) rs1286624133
NM_000088.3(COL1A1):c.1301delG (p.Gly434Valfs) rs1555573968
NM_000088.4(COL1A1):c.1452del (p.Gly485fs) rs72648346
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.4(COL1A1):c.1767+2T>G rs794727394
NM_000088.4(COL1A1):c.1875+1G>C rs72651622
NM_000088.4(COL1A1):c.2010del (p.Gly671fs) rs72651634
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter) rs193922145
NM_000088.4(COL1A1):c.2991del (p.Gly998fs) rs886042603
NM_000088.4(COL1A1):c.3061G>T (p.Glu1021Ter) rs139593707
NM_000088.4(COL1A1):c.3065G>C (p.Gly1022Ala) rs67771061
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs) rs72654794
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3567del (p.Gly1190fs) rs886042286
NM_000088.4(COL1A1):c.3939C>A (p.Tyr1313Ter) rs886042609
NM_000088.4(COL1A1):c.472-1G>C rs72667020
NM_000088.4(COL1A1):c.643-2A>G rs886042602
NM_000088.4(COL1A1):c.896del (p.Gly299fs) rs886042473
NM_000088.4(COL1A1):c.91C>T (p.Gln31Ter) rs794726873
NM_000089.4(COL1A2):c.1550G>A (p.Gly517Asp) rs1057516053
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser) rs72658143
NM_000089.4(COL1A2):c.1971+1G>A rs72658151
NM_000089.4(COL1A2):c.2099G>A (p.Gly700Asp) rs72658161
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000093.5(COL5A1):c.1207G>T (p.Glu403Ter) rs886043641
NM_000093.5(COL5A1):c.1663-1G>C rs794727114
NM_000093.5(COL5A1):c.2034+1G>A rs886042173
NM_000093.5(COL5A1):c.4184del (p.Pro1395fs) rs794727760
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000101.4(CYBA):c.415del (p.Arg139fs) rs1567607736
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs) rs587778875
NM_000109.4(DMD):c.10530-1dup rs1555998436
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del) rs121908077
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.239_240insT (p.Glu80fs) rs398123155
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.3(EMD):c.266-2A>G rs727503036
NM_000117.3(EMD):c.355C>T (p.Gln119Ter) rs398123157
NM_000117.3(EMD):c.3G>A (p.Met1Ile) rs886044771
NM_000117.3(EMD):c.430G>T (p.Glu144Ter) rs1557182560
NM_000117.3(EMD):c.450-2A>G rs398123158
NM_000117.3(EMD):c.468_471del (p.Arg157fs) rs1569552102
NM_000117.3(EMD):c.484C>T (p.Gln162Ter) rs1557182611
NM_000117.3(EMD):c.512C>A (p.Ser171Ter) rs886044901
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.793-1G>A rs1567642367
NM_000137.4(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000138.4(FBN1):c.5593_5594dup (p.Ile1866fs) rs886043709
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.6682dup (p.Tyr2228fs) rs886044547
NM_000138.5(FBN1):c.7016_7031dup (p.Gln2345fs) rs1597518081
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp) rs387906678
NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg) rs1057519047
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) rs121913114
NM_000143.4(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.4(FH):c.1067T>A (p.Leu356Ter) rs727503927
NM_000143.4(FH):c.1126C>T (p.Gln376Ter) rs398123160
NM_000143.4(FH):c.1200del (p.Asn400fs) rs398123162
NM_000143.4(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1446_1449del (p.Glu484fs) rs398123165
NM_000143.4(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.4(FH):c.556-1G>C rs794727698
NM_000143.4(FH):c.737del (p.Gln246fs) rs727503928
NM_000143.4(FH):c.760C>T (p.Gln254Ter) rs398123167
NM_000143.4(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.4(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter) rs794727774
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter) rs142917638
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs) rs1567829962
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1130del (p.Gly377fs) rs754134578
NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter) rs1567830317
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1153del (p.Arg385fs) rs1555600102
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter) rs374470794
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.2012T>G (p.Met671Arg) rs398123170
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs) rs398123171
NM_000152.5(GAA):c.2078dup (p.Ala694fs) rs730880372
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2544del (p.Lys849fs) rs398123173
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2655_2656del (p.Val886fs) rs1555603219
NM_000152.5(GAA):c.379_380del (p.Cys127fs) rs1207988953
NM_000152.5(GAA):c.482_483del (p.Pro161fs) rs764750389
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.934del (p.Leu312fs) rs886042358
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1161+2T>G rs398123175
NM_000153.4(GALC):c.1488_1489+2del rs1555379355
NM_000153.4(GALC):c.1665C>G (p.Tyr555Ter) rs1566972341
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.118G>A (p.Glu40Lys) rs886042060
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) rs111033669
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.367C>T (p.Arg123Ter) rs111033674
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.445dup (p.Ala149fs) rs786200978
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000155.4(GALT):c.513del (p.Phe171fs) rs886044409
NM_000155.4(GALT):c.562C>T (p.Gln188Ter) rs398123182
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.565_578del
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.4(GALT):c.71_72insA (p.Phe24fs) rs886042061
NM_000155.4(GALT):c.82+2del rs794726876
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.905-1G>A rs794726971
NM_000155.4(GALT):c.905-2A>G rs398123187
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000157.4(GBA1):c.1060G>C (p.Asp354His) rs398123526
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu) rs398123527
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA1):c.1348T>A (p.Phe450Ile) rs1553216985
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn) rs121908312
NM_000157.4(GBA1):c.487del (p.Ala163fs) rs398123529
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) rs398123530
NM_000157.4(GBA1):c.580A>T (p.Lys194Ter) rs886042192
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000159.4(GCDH):c.271+1G>A rs786204639
NM_000159.4(GCDH):c.542A>G (p.Glu181Gly) rs398123194
NM_000159.4(GCDH):c.883T>C (p.Tyr295His) rs121434366
NM_000162.5(GCK):c.118G>A (p.Glu40Lys) rs794727236
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.770G>A (p.Trp257Ter) rs1562715426
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000168.6(GLI3):c.1002T>A (p.Tyr334Ter) rs760303531
NM_000169.3(GLA):c.1019_1020insA (p.Trp340Ter) rs398123197
NM_000169.3(GLA):c.101A>G (p.Asn34Ser) rs104894835
NM_000169.3(GLA):c.1020G>A (p.Trp340Ter) rs104894842
NM_000169.3(GLA):c.1023del (p.Glu341fs) rs886044909
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs) rs398123198
NM_000169.3(GLA):c.1057_1058del (p.Met353fs) rs886044829
NM_000169.3(GLA):c.1069C>T (p.Gln357Ter) rs869312223
NM_000169.3(GLA):c.1072G>A (p.Glu358Lys) rs797044774
NM_000169.3(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.3(GLA):c.1077del (p.Ile359fs) rs1569302692
NM_000169.3(GLA):c.1118G>A (p.Gly373Asp) rs869312227
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.3(GLA):c.1166del (p.Pro389fs) rs886044846
NM_000169.3(GLA):c.118C>T (p.Pro40Ser) rs104894831
NM_000169.3(GLA):c.1235_1236del (p.Thr412fs) rs797044777
NM_000169.3(GLA):c.1246C>T (p.Gln416Ter) rs869312247
NM_000169.3(GLA):c.124A>G (p.Met42Val) rs797044613
NM_000169.3(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.3(GLA):c.126G>C (p.Met42Ile) rs1569306108
NM_000169.3(GLA):c.128del (p.Gly43fs) rs797044500
NM_000169.3(GLA):c.132G>A (p.Trp44Ter) rs398123202
NM_000169.3(GLA):c.137A>G (p.His46Arg) rs398123203
NM_000169.3(GLA):c.137A>T (p.His46Leu) rs398123203
NM_000169.3(GLA):c.154T>C (p.Cys52Arg) rs1057521047
NM_000169.3(GLA):c.188G>A (p.Cys63Tyr) rs1569306022
NM_000169.3(GLA):c.195-1G>C rs398123206
NM_000169.3(GLA):c.195-1G>T rs398123206
NM_000169.3(GLA):c.19G>T (p.Glu7Ter) rs398123207
NM_000169.3(GLA):c.235G>T (p.Glu79Ter) rs730880443
NM_000169.3(GLA):c.242G>A (p.Trp81Ter) rs398123208
NM_000169.3(GLA):c.265del (p.Leu89fs) rs1555986307
NM_000169.3(GLA):c.272T>C (p.Ile91Thr) rs869312141
NM_000169.3(GLA):c.274G>A (p.Asp92Asn) rs886041315
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr) rs886041315
NM_000169.3(GLA):c.281G>A (p.Cys94Tyr) rs113173389
NM_000169.3(GLA):c.285G>A (p.Trp95Ter) rs886044900
NM_000169.3(GLA):c.290C>T (p.Ala97Val) rs1569304867
NM_000169.3(GLA):c.295del (p.Gln99fs) rs886039136
NM_000169.3(GLA):c.295dup (p.Gln99fs) rs886039136
NM_000169.3(GLA):c.2T>C (p.Met1Thr) rs1555987232
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.361_364del (p.Ala121fs) rs797044670
NM_000169.3(GLA):c.369+1G>A rs797044669
NM_000169.3(GLA):c.394G>A (p.Gly132Arg) rs1555985855
NM_000169.3(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.3(GLA):c.424T>C (p.Cys142Arg) rs886044845
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.443G>A (p.Ser148Asn) rs1555985829
NM_000169.3(GLA):c.456C>A (p.Tyr152Ter) rs1555985827
NM_000169.3(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.3(GLA):c.485G>A (p.Trp162Ter) rs727504350
NM_000169.3(GLA):c.509A>G (p.Asp170Gly) rs398123210
NM_000169.3(GLA):c.547G>A (p.Gly183Ser) rs869312324
NM_000169.3(GLA):c.548-2A>G rs398123211
NM_000169.3(GLA):c.548G>T (p.Gly183Val) rs398123212
NM_000169.3(GLA):c.59_72dup (p.Asp25fs) rs1555987175
NM_000169.3(GLA):c.59_84del (p.Ala20fs) rs1555987162
NM_000169.3(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.620A>G (p.Tyr207Cys) rs797044727
NM_000169.3(GLA):c.622_623del (p.Met208fs) rs1064796601
NM_000169.3(GLA):c.630del (p.Gln212fs) rs398123214
NM_000169.3(GLA):c.640-1G>A rs398123216
NM_000169.3(GLA):c.640-1G>T rs398123216
NM_000169.3(GLA):c.647A>G (p.Tyr216Cys) rs398123217
NM_000169.3(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000169.3(GLA):c.661C>T (p.Gln221Ter) rs797044747
NM_000169.3(GLA):c.662_663del (p.Gln221fs) rs398123218
NM_000169.3(GLA):c.666C>A (p.Tyr222Ter) rs104894851
NM_000169.3(GLA):c.670A>G (p.Asn224Asp) rs1555985175
NM_000169.3(GLA):c.677G>A (p.Trp226Ter) rs398123219
NM_000169.3(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.3(GLA):c.704C>G (p.Ser235Cys) rs797044746
NM_000169.3(GLA):c.706T>A (p.Trp236Arg) rs1555985148
NM_000169.3(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.3(GLA):c.734G>A (p.Trp245Ter) rs398123220
NM_000169.3(GLA):c.735G>A (p.Trp245Ter) rs1060500747
NM_000169.3(GLA):c.748C>T (p.Gln250Ter) rs398123221
NM_000169.3(GLA):c.776C>G (p.Pro259Arg) rs869312399
NM_000169.3(GLA):c.777del (p.Gly261fs) rs1569303213
NM_000169.3(GLA):c.785G>A (p.Trp262Ter) rs869312402
NM_000169.3(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.3(GLA):c.797A>T (p.Asp266Val) rs28935487
NM_000169.3(GLA):c.800del (p.Met267fs) rs1569303189
NM_000169.3(GLA):c.801+3A>G rs797044748
NM_000169.3(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.3(GLA):c.802-2A>G rs797044499
NM_000169.3(GLA):c.802-3_802-2del rs797044498
NM_000169.3(GLA):c.80del (p.Pro27fs) rs730880454
NM_000169.3(GLA):c.826A>G (p.Ser276Gly) rs869312432
NM_000169.3(GLA):c.830G>A (p.Trp277Ter) rs886044766
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla) rs1555985004
NM_000169.3(GLA):c.847C>T (p.Gln283Ter) rs730880452
NM_000169.3(GLA):c.848dup (p.Met284fs) rs1555985002
NM_000169.3(GLA):c.861G>T (p.Trp287Cys) rs104894839
NM_000169.3(GLA):c.865A>T (p.Ile289Phe) rs140329381
NM_000169.3(GLA):c.879_880delinsAATC (p.Leu294fs) rs797044769
NM_000169.3(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.3(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000169.3(GLA):c.901C>T (p.Arg301Ter) rs398123224
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.3(GLA):c.916C>T (p.Gln306Ter) rs797044768
NM_000169.3(GLA):c.959_962del (p.Asn320fs) rs398123225
NM_000169.3(GLA):c.95T>C (p.Leu32Pro) rs1569306168
NM_000169.3(GLA):c.966C>A (p.Asp322Glu) rs398123226
NM_000169.3(GLA):c.966C>G (p.Asp322Glu) rs398123226
NM_000169.3(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.3(GLA):c.979C>T (p.Gln327Ter) rs28935491
NM_000169.3(GLA):c.982G>A (p.Gly328Arg) rs104894832
NM_000169.3(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000169.3(GLA):c.983G>C (p.Gly328Ala) rs28935492
NM_000169.3(GLA):c.996_999del (p.Gln333fs) rs398123229
NM_000169.3(GLA):c.999+2T>C rs886044860
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs) rs755313904
NM_000174.5(GP9):c.70T>C (p.Cys24Arg) rs28933378
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs) rs63750075
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs) rs267608092
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs) rs398123232
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) rs794727952
NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter) rs768390959
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter) rs1053785648
NM_000181.4(GUSB):c.866G>A (p.Trp289Ter) rs398123238
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.1918C>T (p.Gln640Ter) rs794727198
NM_000182.5(HADHA):c.2146+1G>A rs794727219
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000193.4(SHH):c.1018G>T (p.Glu340Ter) rs1563198990
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000194.3(HPRT1):c.212dup (p.Tyr72fs) rs786200980
NM_000194.3(HPRT1):c.384+1G>A rs398123240
NM_000194.3(HPRT1):c.486-1G>A rs398123241
NM_000194.3(HPRT1):c.532+2T>G rs727503964
NM_000194.3(HPRT1):c.580G>C (p.Asp194His) rs267606863
NM_000194.3(HPRT1):c.643_*7del (p.Lys215fs) rs1556030344
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000202.8(IDS):c.1007-8T>G rs797044782
NM_000202.8(IDS):c.103+1G>C rs398123247
NM_000202.8(IDS):c.1148del (p.Pro383fs) rs797044502
NM_000202.8(IDS):c.1265G>T (p.Cys422Phe) rs886044835
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1403G>C (p.Arg468Pro) rs113993946
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter) rs886044837
NM_000202.8(IDS):c.208dup (p.His70fs) rs797044671
NM_000202.8(IDS):c.252C>A (p.Cys84Ter) rs1557340286
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.314_317dup (p.Ser107fs) rs797044703
NM_000202.8(IDS):c.404_405del (p.Lys135fs) rs1557340221
NM_000202.8(IDS):c.587T>C (p.Leu196Ser) rs398123250
NM_000202.8(IDS):c.597del (p.Lys199fs) rs398123251
NM_000202.8(IDS):c.690_691insT (p.Pro231fs) rs797044750
NM_000202.8(IDS):c.832_833insATGTTTAAGGGAAG (p.Ala278delinsAspValTer) rs797044770
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000203.5(IDUA):c.1402+1G>C rs398123254
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.164del (p.Pro55fs) rs727503966
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) rs398123258
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.494-1G>C rs794727701
NM_000203.5(IDUA):c.501C>G (p.Tyr167Ter) rs200726100
NM_000203.5(IDUA):c.972+1G>A rs794727840
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000208.4(INSR):c.350_353del (p.Asn117fs) rs1347163319
NM_000213.5(ITGB4):c.2763C>A (p.Tyr921Ter) rs1568366397
NM_000213.5(ITGB4):c.4642_4645del (p.Trp1548fs) rs1568385656
NM_000214.2(JAG1):c.358dup (p.Ile120Asnfs) rs1555830922
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter) rs1555830976
NM_000214.3(JAG1):c.1037_1056dup (p.Glu353fs) rs886043451
NM_000214.3(JAG1):c.1207C>T (p.Gln403Ter) rs794727953
NM_000214.3(JAG1):c.1218_1219insGA (p.Lys407fs) rs886044604
NM_000214.3(JAG1):c.1325G>A (p.Trp442Ter) rs1568796883
NM_000214.3(JAG1):c.1326G>A (p.Trp442Ter) rs794726974
NM_000214.3(JAG1):c.1346_1347del (p.Ile449fs) rs1555828770
NM_000214.3(JAG1):c.1395+3A>G rs886044220
NM_000214.3(JAG1):c.1396-2A>G rs1568796298
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer) rs1568796236
NM_000214.3(JAG1):c.1459_1460insGA (p.Asp487fs) rs1555828652
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs) rs876660981
NM_000214.3(JAG1):c.1528C>T (p.Gln510Ter) rs1568796158
NM_000214.3(JAG1):c.1720+1del rs886044349
NM_000214.3(JAG1):c.173_176del (p.Ala58fs) rs886043130
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer) rs1555828321
NM_000214.3(JAG1):c.203dup (p.Asp69fs) rs1568807044
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs) rs886039393
NM_000214.3(JAG1):c.2118_2119del (p.Asp706fs) rs1568794159
NM_000214.3(JAG1):c.2122C>T (p.Gln708Ter) rs886044136
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.2225_2226del (p.Ile742fs) rs1555828209
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.2270dup (p.Thr758fs) rs886043605
NM_000214.3(JAG1):c.2310C>A (p.Cys770Ter) rs886043904
NM_000214.3(JAG1):c.2322G>A (p.Trp774Ter) rs1555828173
NM_000214.3(JAG1):c.2345-1G>A rs1568793670
NM_000214.3(JAG1):c.2424T>A (p.Cys808Ter) rs1568793265
NM_000214.3(JAG1):c.2458+2_2458+5del rs1568793232
NM_000214.3(JAG1):c.2530_2552delinsGCACAT (p.Cys844fs) rs1600179847
NM_000214.3(JAG1):c.2601_2603delinsTGATGCA (p.Ser868fs) rs1568792344
NM_000214.3(JAG1):c.2682+1G>T rs1568792238
NM_000214.3(JAG1):c.2689_2693del (p.Cys897fs) rs1555827790
NM_000214.3(JAG1):c.2706C>A (p.Cys902Ter) rs886043869
NM_000214.3(JAG1):c.270dup (p.Pro91fs) rs863223667
NM_000214.3(JAG1):c.2727_2728dup (p.Glu910fs) rs1600179237
NM_000214.3(JAG1):c.2728dup (p.Glu910fs) rs886042155
NM_000214.3(JAG1):c.2743C>T (p.Gln915Ter) rs1568792125
NM_000214.3(JAG1):c.2830del (p.Pro943_Val944insTer) rs1555827760
NM_000214.3(JAG1):c.2966dup (p.Leu989fs) rs1555827729
NM_000214.3(JAG1):c.3007_3017dup (p.Ala1008fs) rs1600178720
NM_000214.3(JAG1):c.3009_3025dup (p.Asn1009fs) rs1555827717
NM_000214.3(JAG1):c.3048+1G>A rs876661121
NM_000214.3(JAG1):c.3048+1G>T rs876661121
NM_000214.3(JAG1):c.30del (p.Arg12fs) rs1568807483
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs) rs1555827653
NM_000214.3(JAG1):c.3165_3184del (p.Arg1056fs) rs1568791393
NM_000214.3(JAG1):c.3213dup (p.Leu1073fs) rs1568791022
NM_000214.3(JAG1):c.390dup (p.Ser131fs) rs886044111
NM_000214.3(JAG1):c.3G>A (p.Met1Ile) rs1555831014
NM_000214.3(JAG1):c.41del (p.Leu14fs) rs1568807463
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter) rs886043606
NM_000214.3(JAG1):c.459_460insT (p.Lys154Ter) rs1568801096
NM_000214.3(JAG1):c.500G>A (p.Trp167Ter) rs1568801068
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys) rs121918350
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter) rs876660980
NM_000214.3(JAG1):c.756-1G>T rs1568798388
NM_000214.3(JAG1):c.82-2A>G rs1568807161
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter) rs886043603
NM_000214.3(JAG1):c.852_853del (p.Cys284_Glu285delinsTer) rs1568798289
NM_000214.3(JAG1):c.929del (p.Gly310fs) rs1555829039
NM_000214.3(JAG1):c.986C>A (p.Ser329Ter) rs1568798024
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000222.3(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000228.3(LAMB3):c.2768_2769del (p.Thr923fs) rs1558148080
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.230dup (p.Leu78fs) rs1432706111
NM_000231.3(SGCG):c.385+2T>G rs200206447
NM_000231.3(SGCG):c.386-2A>G rs886042757
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer) rs886042540
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.599del (p.Ser200fs) rs886043860
NM_000231.3(SGCG):c.735dup (p.Lys246fs) rs797044783
NM_000232.5(SGCB):c.28G>T (p.Glu10Ter) rs1448040082
NM_000232.5(SGCB):c.29_33del (p.Glu10fs) rs1057517064
NM_000232.5(SGCB):c.32dup (p.Gln12fs) rs796065319
NM_000232.5(SGCB):c.572del (p.Leu191fs) rs886042546
NM_000235.4(LIPA):c.397_398del (p.Val134fs) rs1564755287
NM_000235.4(LIPA):c.459dup (p.Ala154fs) rs1564754574
NM_000235.4(LIPA):c.817_820del (p.Asn273fs) rs1564752665
NM_000235.4(LIPA):c.822+1G>C rs1204744283
NM_000238.4(KCNH2):c.3103del (p.Arg1035fs) rs794728468
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.1039-1G>A rs267607819
NM_000249.4(MLH1):c.677+3A>G rs267607780
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.3(MSH2):c.2005+1G>A rs267607986
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter) rs398123264
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs) rs587783752
NM_000252.3(MTM1):c.1306_1310dup (p.Phe438fs) rs398123267
NM_000252.3(MTM1):c.1357_1358del (p.Pro453fs) rs398123268
NM_000252.3(MTM1):c.1415_1416del (p.Ser472fs) rs797044503
NM_000252.3(MTM1):c.142_143del (p.Glu48fs) rs398123270
NM_000252.3(MTM1):c.1644+1G>T rs398123272
NM_000252.3(MTM1):c.1644+3_1644+6del rs797044504
NM_000252.3(MTM1):c.19del (p.Ser7fs) rs886044770
NM_000252.3(MTM1):c.444+1G>A rs886044840
NM_000252.3(MTM1):c.595_599del (p.Pro199fs) rs398123273
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000254.3(MTR):c.2669_2670del (p.Val890fs) rs794727395
NM_000254.3(MTR):c.3600del (p.Ile1201fs) rs1346847201
NM_000255.4(MMUT):c.-39-1G>A rs879253822
NM_000255.4(MMUT):c.1445-2A>G rs398123276
NM_000255.4(MMUT):c.1599T>A (p.Cys533Ter) rs886042128
NM_000255.4(MMUT):c.55dup (p.Val19fs) rs879253823
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu) rs397516153
NM_000260.4(MYO7A):c.4225del (p.Leu1409fs) rs1398609491
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter) rs398123281
NM_000263.4(NAGLU):c.648dup (p.Ser217fs) rs760370189
NM_000263.4(NAGLU):c.944dup (p.Asn315fs) rs797044751
NM_000264.5(PTCH1):c.2011dup (p.His671fs) rs1554695110
NM_000264.5(PTCH1):c.343G>T (p.Gly115Ter) rs794727242
NM_000266.4(NDP):c.109C>T (p.Arg37Ter) rs398123283
NM_000266.4(NDP):c.155T>A (p.Leu52Ter) rs886043097
NM_000266.4(NDP):c.220C>T (p.Arg74Cys) rs727504031
NM_000266.4(NDP):c.325C>T (p.Arg109Ter) rs886043023
NM_000266.4(NDP):c.384C>A (p.Cys128Ter) rs104894873
NM_000271.5(NPC1):c.1065del (p.Phe356fs) rs886043871
NM_000271.5(NPC1):c.1140_1141del (p.Trp381fs) rs1567965488
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter) rs794727897
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.1628del (p.Pro543fs) rs1555635957
NM_000271.5(NPC1):c.1920del (p.His641fs) rs886042270
NM_000271.5(NPC1):c.2604+1G>A rs1555633454
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp) rs1555632971
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter) rs750095738
NM_000271.5(NPC1):c.3246-2A>G rs886042268
NM_000271.5(NPC1):c.423_424insGA (p.Lys142fs) rs1555641037
NM_000271.5(NPC1):c.67del (p.Gln23fs) rs886043131
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs) rs771620099
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.867del (p.Ser289fs) rs794727898
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter) rs1556346316
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000276.4(OCRL):c.1714-1G>A rs794727182
NM_000276.4(OCRL):c.2299C>T (p.Gln767Ter) rs794727333
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter) rs1569463775
NM_000276.4(OCRL):c.2563del (p.Val855fs) rs398123288
NM_000276.4(OCRL):c.2582-1G>A rs398123289
NM_000276.4(OCRL):c.909_910del (p.Gly304fs) rs398123290
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr) rs199475658
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?) rs794727086
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000277.3(PAH):c.440C>T (p.Pro147Leu) rs199475694
NM_000277.3(PAH):c.442-1G>A rs62514907
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.503del (p.Tyr168fs) rs199475661
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter) rs62509013
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.955G>T (p.Glu319Ter) rs398123294
NM_000277.3(PAH):c.970-1G>C rs202183605
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) rs62508578
NM_000280.4(PAX6):c.358delG rs886042838
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter) rs398123297
NM_000282.4(PCCA):c.1561_1566delinsTATTGCCAATAACC (p.Glu521_Lys522delinsTyrCysGlnTer) rs1555425572
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000286.3(PEX12):c.86T>G (p.Leu29Ter) rs1567731767
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) rs398123302
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter) rs886044436
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) rs62653602
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.684dup (p.Arg229fs) rs886043908
NM_000287.4(PEX6):c.689_690dup (p.Ser232fs) rs398123305
NM_000288.4(PEX7):c.213del (p.Phe71fs) rs1190462422
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) rs137853590
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000301.5(PLG):c.185+1G>T rs886042477
NM_000302.4(PLOD1):c.1470+2T>C rs886043927
NM_000302.4(PLOD1):c.327del (p.Arg111fs) rs886042976
NM_000302.4(PLOD1):c.402del (p.Asp135fs) rs886043926
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.392del (p.Pro131fs) rs1555449607
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg) rs398123312
NM_000304.4(PMP22):c.117G>A (p.Trp39Ter) rs797044846
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu) rs104894621
NM_000310.4(PPT1):c.810del (p.Gly270_Leu271insTer) rs794727955
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.8(PTEN):c.551dup (p.Asn184fs) rs1554900606
NM_000314.8(PTEN):c.634+2T>G rs727504114
NM_000314.8(PTEN):c.635-2A>G rs1564566706
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.827del (p.Asn276fs) rs886044679
NM_000314.8(PTEN):c.956_959del (p.Thr319fs) rs398123330
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000321.2(RB1):c.1402_1412dup (p.Gln471Hisfs) rs797044649
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1191del (p.Glu398fs) rs727504121
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.3(RB1):c.1510C>T (p.Gln504Ter) rs886043247
NM_000321.3(RB1):c.1585dup (p.Tyr529fs) rs398123332
NM_000321.3(RB1):c.1696-1G>A rs794727199
NM_000321.3(RB1):c.2067_2079delinsCAC (p.Gln689fs) rs398123333
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.2370C>A (p.Tyr790Ter) rs794727372
NM_000321.3(RB1):c.2488_2489+7del rs1555294634
NM_000321.3(RB1):c.2489+1G>C rs764754259
NM_000321.3(RB1):c.2548C>T (p.Gln850Ter) rs886042935
NM_000321.3(RB1):c.297G>A (p.Trp99Ter) rs794727481
NM_000321.3(RB1):c.376del (p.Ile126fs) rs886042357
NM_000321.3(RB1):c.396del (p.Phe132fs) rs886043313
NM_000321.3(RB1):c.54_79del (p.Glu19fs) rs727504120
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000326.5(RLBP1):c.504_508del (p.Ser168fs) rs1379405913
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.149_150del (p.Leu49_Phe50insTer) rs886042807
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000337.6(SGCD):c.443T>A (p.Leu148Ter) rs886043460
NM_000337.6(SGCD):c.65dup (p.Tyr23fs) rs886043031
NM_000341.4(SLC3A1):c.163del (p.Gln55fs) rs779932118
NM_000346.4(SOX9):c.1249C>T (p.Gln417Ter) rs886043831
NM_000346.4(SOX9):c.781G>T (p.Glu261Ter) rs1555629290
NM_000350.3(ABCA4):c.3139del (p.Glu1047fs) rs886042904
NM_000350.3(ABCA4):c.4429C>T (p.Gln1477Ter) rs794727531
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.4947del (p.Glu1650fs) rs61750159
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs) rs61750566
NM_000350.3(ABCA4):c.5289del (p.Val1764fs) rs1553188071
NM_000350.3(ABCA4):c.5899-2del rs1553187162
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter) rs61750644
NM_000350.3(ABCA4):c.6184_6187del (p.Val2062fs) rs886042319
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.850_857del (p.Ile284fs) rs886042320
NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter) rs794727903
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter) rs1554815054
NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs) rs794727320
NM_000368.5(TSC1):c.664-1G>A rs118203423
NM_000368.5(TSC1):c.901_902del (p.Gln301fs) rs118203464
NM_000372.5(TYR):c.338_339del (p.Thr113fs) rs61753254
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000381.4(MID1):c.1302_1305dup (p.Ser436Ter) rs786200982
NM_000381.4(MID1):c.1444_1447dup (p.Ser483fs) rs797044786
NM_000381.4(MID1):c.1656-8_1657del rs1556002004
NM_000381.4(MID1):c.1798dup (p.His600fs) rs398123342
NM_000381.4(MID1):c.783del (p.Lys261fs) rs398123343
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000387.6(SLC25A20):c.713A>G (p.Gln238Arg) rs28934589
NM_000388.4(CASR):c.323del (p.Leu108fs) rs1559956616
NM_000390.4(CHM):c.649_652del (p.Tyr217fs) rs886043716
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000392.4(ABCC2):c.2322dup (p.Thr775Tyrfs) rs1554851699
NM_000392.5(ABCC2):c.1014_1017del (p.Ser339fs) rs1564674618
NM_000392.5(ABCC2):c.1325G>A (p.Trp442Ter) rs776087856
NM_000392.5(ABCC2):c.156T>A (p.Tyr52Ter) rs1554845888
NM_000392.5(ABCC2):c.1651C>T (p.Gln551Ter) rs1554849397
NM_000392.5(ABCC2):c.1968-1G>C rs756707816
NM_000392.5(ABCC2):c.207+1G>A rs1161530285
NM_000392.5(ABCC2):c.2125T>C (p.Trp709Arg) rs764958537
NM_000392.5(ABCC2):c.2325del (p.Tyr776fs) rs1564688595
NM_000392.5(ABCC2):c.2855_2858del (p.Ile952fs) rs1554853026
NM_000392.5(ABCC2):c.3216dup (p.Asp1073Ter) rs771652807
NM_000392.5(ABCC2):c.3220_3226del (p.Thr1074fs) rs777325157
NM_000392.5(ABCC2):c.3399_3400del (p.Tyr1134fs) rs762914474
NM_000392.5(ABCC2):c.3422_3423del (p.Tyr1141fs) rs774778158
NM_000392.5(ABCC2):c.3472_3473del (p.Pro1158fs) rs762291612
NM_000392.5(ABCC2):c.3599G>A (p.Trp1200Ter) rs577353173
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000392.5(ABCC2):c.3741+1G>T rs34937870
NM_000392.5(ABCC2):c.4239_4240insTC (p.His1414fs) rs1554854612
NM_000392.5(ABCC2):c.4246A>T (p.Lys1416Ter) rs1564702358
NM_000392.5(ABCC2):c.476del (p.Asn159fs) rs769798659
NM_000398.7(CYB5R3):c.250C>T (p.Arg84Ter) rs1210302322
NM_000400.4(ERCC2):c.2046+1G>T rs774768228
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000404.4(GLB1):c.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.169del (p.Tyr57fs) rs794727249
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.457+2T>C rs398123354
NM_000404.4(GLB1):c.51dup (p.Leu18fs) rs398123356
NM_000414.4(HSD17B4):c.1696_1702delinsAA (p.Pro566fs) rs886043708
NM_000417.3(IL2RA):c.368-2A>G rs1554829311
NM_000426.4(LAMA2):c.1032_1042del (p.Cys344fs) rs886044344
NM_000426.4(LAMA2):c.1610_1611del (p.Ile537fs) rs886043374
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) rs398123368
NM_000426.4(LAMA2):c.1855_1856insATGTTCAC (p.Arg619fs) rs797044643
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.2352T>G (p.Tyr784Ter) rs886044330
NM_000426.4(LAMA2):c.2750-1G>C rs9492297
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.4(LAMA2):c.3237C>A (p.Cys1079Ter) rs1554268940
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs) rs398123372
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_000426.4(LAMA2):c.3979_3985dup (p.Phe1329Ter) rs886042847
NM_000426.4(LAMA2):c.444dup (p.Pro149fs) rs759516529
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter) rs201632009
NM_000426.4(LAMA2):c.524_534dup (p.Leu179delinsSerAlaTer) rs797044728
NM_000426.4(LAMA2):c.5605G>T (p.Glu1869Ter) rs746762473
NM_000426.4(LAMA2):c.6011del (p.Asn2004fs) rs398123379
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer) rs398123380
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) rs121913576
NM_000426.4(LAMA2):c.7155+1G>A rs886043692
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs) rs398123385
NM_000426.4(LAMA2):c.7439+1G>A rs886043630
NM_000426.4(LAMA2):c.7536del (p.Asp2513fs) rs398123387
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) rs766920075
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs) rs886039541
NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter) rs1289855948
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter) rs886043648
NM_000426.4(LAMA2):c.8669dup (p.Leu2890fs) rs1554316216
NM_000426.4(LAMA2):c.9101_9104dup (p.His3035fs) rs398123390
NM_000426.4(LAMA2):c.9212-1G>A rs398123391
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.4(PAFAH1B1):c.907_910del (p.Lys303fs) rs587784292
NM_000433.4(NCF2):c.565C>T (p.Gln189Ter) rs755796920
NM_000440.3(PDE6A):c.1926+1G>A rs794727139
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1222del (p.Ser408fs) rs886043058
NM_000441.2(SLC26A4):c.382_384delinsAA (p.Phe128fs) rs886044696
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000443.4(ABCB4):c.1006-2A>C rs1348606984
NM_000443.4(ABCB4):c.100dup (p.Thr34fs) rs1554417376
NM_000443.4(ABCB4):c.1015del (p.Ser339fs) rs753104429
NM_000443.4(ABCB4):c.1501G>T (p.Glu501Ter) rs1562976167
NM_000443.4(ABCB4):c.1553del (p.Leu518fs) rs1562976061
NM_000443.4(ABCB4):c.1635_1648delinsCCATTCAGG (p.Ala546fs) rs1562975541
NM_000443.4(ABCB4):c.1943del (p.Lys648fs) rs1562965250
NM_000443.4(ABCB4):c.2002C>T (p.Gln668Ter) rs1562965098
NM_000443.4(ABCB4):c.2082_2088del (p.Val695fs) rs1562963055
NM_000443.4(ABCB4):c.2316+1G>A rs1562961442
NM_000443.4(ABCB4):c.2446del (p.Arg816fs) rs1554401344
NM_000443.4(ABCB4):c.2473C>T (p.Gln825Ter) rs1554401324
NM_000443.4(ABCB4):c.2625_2626delinsAT (p.Met875_Lys876delinsIleTer) rs886043734
NM_000443.4(ABCB4):c.2626A>T (p.Lys876Ter) rs886043725
NM_000443.4(ABCB4):c.3081+1G>C rs750829010
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000443.4(ABCB4):c.3280-1G>C rs1562949296
NM_000443.4(ABCB4):c.345-2A>G rs1562989885
NM_000443.4(ABCB4):c.3608C>G (p.Ser1203Ter) rs748842753
NM_000443.4(ABCB4):c.3633+1G>T rs1245472904
NM_000443.4(ABCB4):c.609dup (p.Ala204fs) rs1562988165
NM_000443.4(ABCB4):c.834-2A>G rs1562983531
NM_000443.4(ABCB4):c.879del (p.Ala294fs) rs1326932143
NM_000443.4(ABCB4):c.927T>G (p.Tyr309Ter) rs199504845
NM_000443.4(ABCB4):c.932C>A (p.Ser311Ter) rs1562983272
NM_000443.4(ABCB4):c.94A>T (p.Lys32Ter) rs1563009379
NM_000444.6(PHEX):c.67del (p.Leu23fs) rs886043584
NM_000451.4(SHOX):c.517C>T (p.Arg173Cys) rs137852556
NM_000455.5(STK11):c.169dup (p.Glu57fs) rs121913319
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.5(STK11):c.877G>T (p.Glu293Ter) rs398123405
NM_000455.5(STK11):c.921-1G>T rs398123406
NM_000455.5(STK11):c.921-2A>T rs727504172
NM_000455.5(STK11):c.988dup (p.Asp330fs) rs786200991
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
NM_000463.3(UGT1A1):c.1084+1G>T rs587784535
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter) rs72551340
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs) rs797046091
NM_000463.3(UGT1A1):c.877_890delinsA (p.Tyr293fs) rs587776761
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1803+1G>T rs1562857871
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2396dup (p.Ser800fs) rs778871894
NM_000466.3(PEX1):c.2468del (p.Pro823fs) rs766947924
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3505_3517del (p.Gln1169fs) rs727504076
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000481.4(AMT):c.14dup (p.Ser6fs) rs773988915
NM_000487.6(ARSA):c.1108-2A>G rs398123411
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1125_1126del (p.Phe376fs) rs398123412
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) rs80338823
NM_000487.6(ARSA):c.302del (p.Gly101fs) rs761606317
NM_000487.6(ARSA):c.34del (p.Ala12fs) rs398123415
NM_000487.6(ARSA):c.583del (p.Trp195fs) rs398123416
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) rs199476389
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) rs398123418
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) rs398123419
NM_000489.6(ATRX):c.134-2A>G rs398123420
NM_000489.6(ATRX):c.1753G>T (p.Glu585Ter) rs886044898
NM_000489.6(ATRX):c.189+1G>A rs398123422
NM_000489.6(ATRX):c.463_474delinsT (p.Thr154_Glu155insTer) rs398123424
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.7394del (p.Gly2465fs) rs398123428
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1083del (p.Trp361fs) rs387906375
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs) rs3034796
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.165-1G>A rs397508249
NM_000492.4(CFTR):c.1679+1G>A rs397508263
NM_000492.4(CFTR):c.1766+2T>A rs1554389062
NM_000492.4(CFTR):c.19G>T (p.Glu7Ter) rs121909045
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.233dup (p.Trp79fs) rs397508360
NM_000492.4(CFTR):c.2619+1G>A rs1554389836
NM_000492.4(CFTR):c.2658-2A>G rs1554390958
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro) rs121909036
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.3999del (p.Lys1334fs) rs886042527
NM_000492.4(CFTR):c.4058del (p.Gln1352_Leu1353insTer) rs1562928927
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.442del (p.Ile148fs) rs121908770
NM_000492.4(CFTR):c.49_50dup (p.Trp19fs) rs397508714
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.4(CFTR):c.743+1G>A rs397508791
NM_000492.4(CFTR):c.803del (p.Asn268fs) rs121908772
NM_000492.4(CFTR):c.848_860delinsTG (p.Lys283fs) rs796065332
NM_000492.4(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.4(CFTR):c.869+1G>C rs1330431481
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000494.4(COL17A1):c.2407G>T (p.Gly803Ter) rs752317971
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000501.4(ELN):c.914_930delinsGCT (p.Ala305fs) rs886044834
NM_000503.6(EYA1):c.602C>G (p.Ser201Ter) rs1563423589
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000512.5(GALNS):c.405_422+1del rs398123437
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.899-66_907delinsACTCAGTG rs1597559669
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys) rs397514456
NM_000516.7(GNAS):c.2T>C (p.Met1Thr) rs1555883949
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000520.6(HEXA):c.1A>T (p.Met1Leu) rs121907965
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1239_1243del (p.Lys414fs) rs398123445
NM_000521.4(HEXB):c.1517_1529dup (p.Glu511fs) rs797044644
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter) rs1555709972
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.205C>T (p.Gln69Ter) rs72554326
NM_000531.6(OTC):c.238A>G (p.Lys80Glu) rs72554332
NM_000531.6(OTC):c.391_397dup (p.Ser133delinsIleValTer) rs1602029533
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.540+2T>C rs67367843
NM_000531.6(OTC):c.663+2T>C rs72558427
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.183+1G>A rs398123460
NM_000532.5(PCCB):c.184-1G>A rs886044246
NM_000532.5(PCCB):c.2T>A (p.Met1Lys) rs398123462
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter) rs398123463
NM_000532.5(PCCB):c.419_430dup (p.Lys140_Lys143dup) rs797044729
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_000533.5(PLP1):c.453G>A (p.Lys151=) rs886044450
NM_000533.5(PLP1):c.646C>T (p.Pro216Ser) rs132630278
NM_000533.5(PLP1):c.737G>C (p.Gly246Ala) rs398123467
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) rs879541124
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000540.3(RYR1):c.12315_12328del (p.Glu4106fs) rs886042171
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12612G>A (p.Trp4204Ter) rs794727982
NM_000540.3(RYR1):c.12625-1G>T rs794727984
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu) rs193922772
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.3(RYR1):c.3982_3986del (p.Pro1327_Asp1328insTer) rs1555775774
NM_000540.3(RYR1):c.4076del (p.Gly1359fs) rs794727460
NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs) rs794727683
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser) rs1342372980
NM_000543.5(SMPD1):c.114del (p.Leu39fs) rs886043098
NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile) rs120074121
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs) rs398123476
NM_000543.5(SMPD1):c.1533del (p.His511fs) rs1564927308
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1630del (p.Thr544fs) rs770962157
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.354del (p.Ile119fs) rs727504165
NM_000543.5(SMPD1):c.558_559insT (p.Pro187fs) rs1554934241
NM_000543.5(SMPD1):c.564del (p.Lys189fs) rs756366019
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000543.5(SMPD1):c.842_849dup (p.His284fs) rs281860677
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000545.8(HNF1A):c.1A>T (p.Met1Leu) rs193922592
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.314del (p.Gly105fs) rs1567555907
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.892G>T (p.Glu298Ter) rs201744589
NM_000548.5(TSC2):c.2546-2A>G rs45517246
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs) rs137854076
NM_000548.5(TSC2):c.3284+1G>A rs45517289
NM_000548.5(TSC2):c.4415del (p.Gly1472fs) rs794727573
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.649-1G>C rs794727906
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.4(VHL):c.245G>C (p.Arg82Pro) rs794726890
NM_000551.4(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.4(VHL):c.351G>T (p.Trp117Cys) rs727504215
NM_000551.4(VHL):c.394C>T (p.Gln132Ter) rs5030813
NM_000551.4(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000551.4(VHL):c.586A>T (p.Lys196Ter) rs281860296
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000553.6(WRN):c.2900dup (p.Leu967fs) rs1554530901
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_000554.6(CRX):c.448del (p.Ser150fs) rs886044121
NM_000642.3(AGL):c.1485del (p.Arg494_Tyr495insTer) rs794727051
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.2158-1G>A rs886043990
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000709.4(BCKDHA):c.117del (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.1302C>A (p.Tyr434Ter) rs398123491
NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs) rs398123492
NM_000709.4(BCKDHA):c.1314C>A (p.Tyr438Ter) rs398123493
NM_000709.4(BCKDHA):c.14del (p.Ile5fs) rs398123494
NM_000709.4(BCKDHA):c.741dup (p.Ala248fs) rs398123504
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) rs794727847
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala) rs398123509
NM_000709.4(BCKDHA):c.909_910del (p.Phe304fs) rs398123510
NM_000709.4(BCKDHA):c.917del (p.Val306fs) rs398123512
NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter) rs398123513
NM_000747.3(CHRNB1):c.865G>A (p.Val289Met) rs137852810
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) rs771819245
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.256-1G>T rs886556800
NM_000784.4(CYP27A1):c.256-2A>G rs1559391390
NM_000784.4(CYP27A1):c.446+1G>T rs587778797
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.776del (p.Lys259fs) rs1343936087
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) rs780950819
NM_000785.4(CYP27B1):c.171dup (p.Leu58fs) rs763437121
NM_000823.4(GHRHR):c.1089_1093del (p.Leu364fs) rs748432685
NM_000834.5(GRIN2B):c.1823T>A (p.Leu608Ter) rs886043237
NM_000875.5(IGF1R):c.2032dup (p.Ile678fs) rs1567197213
NM_000875.5(IGF1R):c.418dup (p.Ala140fs) rs746570875
NM_000900.5(MGP):c.94+1G>A rs111320759
NM_000939.4(POMC):c.225del (p.Lys76fs) rs1558628852
NM_001001548.3(CD36):c.1155del (p.Lys385fs) rs765809606
NM_001004334.4(GPR179):c.647dup (p.Ala217fs) rs886043388
NM_001004334.4(GPR179):c.799_803delinsTGATCTAC (p.Gln267_Val268delinsTer) rs886043488
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001008216.2(GALE):c.272del (p.Leu91fs) rs794727702
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs) rs727503977
NM_001008537.3(NEXMIF):c.640del (p.Ala214fs) rs886042158
NM_001008537.3(NEXMIF):c.773G>A (p.Trp258Ter) rs1569335877
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683
NM_001015877.2(PHF6):c.3G>T (p.Met1Ile) rs398124428
NM_001015878.2(AURKC):c.145del (p.Leu49fs) rs397515619
NM_001015880.2(PAPSS2):c.639+1G>T rs794727710
NM_001017420.3(ESCO2):c.760del (p.Thr254fs) rs80359852
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) rs199476317
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.264-2A>T rs727503969
NM_001023570.4(IQCB1):c.817G>T (p.Glu273Ter) rs794727964
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) rs104893991
NM_001029883.3(PCARE):c.1828C>T (p.Gln610Ter) rs886044003
NM_001029883.3(PCARE):c.2227_2228del (p.Leu744fs) rs886044002
NM_001029883.3(PCARE):c.2506G>T (p.Glu836Ter) rs886044135
NM_001029883.3(PCARE):c.2920_2921insC (p.Glu974fs) rs1553354488
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001032221.6(STXBP1):c.1029+1G>T rs727504173
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001032221.6(STXBP1):c.400_401del (p.Asn134fs) rs886044141
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.794+1G>A rs1554777496
NM_001032382.2(PQBP1):c.450_453del (p.Asp150fs) rs886044823
NM_001033560.1(DNAAF4):c.523dup (p.Ile175Asnfs) rs751610886
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter) rs886044302
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg) rs281865296
NM_001034853.2(RPGR):c.155-2A>G rs62638632
NM_001034853.2(RPGR):c.486del (p.Phe162fs) rs281865297
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter) rs369037463
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs) rs796065331
NM_001037.5(SCN1B):c.347del (p.Ser116fs) rs794727487
NM_001039141.3(TRIOBP):c.251_254+22del rs1555894574
NM_001039141.3(TRIOBP):c.3487_3533del (p.Pro1163fs) rs1569042640
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) rs121434491
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001042432.2(CLN3):c.17del (p.Gly6fs) rs886043242
NM_001042432.2(CLN3):c.461-280_677+382del rs1555468634
NM_001042702.5(PJVK):c.515_516del (p.Ser172fs) rs1553601319
NM_001044385.3(TMEM237):c.73dup (p.Ser25fs) rs1559590832
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001061.7(TBXAS1):c.1420del (p.Ala474fs) rs794727053
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) rs794727190
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter) rs398124247
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689
NM_001079.4(ZAP70):c.1624-11G>A rs730880318
NM_001079802.1(FKTN):c.*4375_*4376ins3062
NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs) rs1554754678
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs) rs886042778
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs) rs1561879345
NM_001080517.3(SETD5):c.2340dup (p.Lys781Ter) rs1559439258
NM_001080517.3(SETD5):c.2757dup (p.Val920fs) rs1553638715
NM_001080522.2(CC2D2A):c.1017dup (p.Glu340Argfs) rs797044636
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001081.4(CUBN):c.1308_1311del (p.Glu435_Cys436insTer) rs1564516701
NM_001083961.2(WDR62):c.1677_1680dup (p.Ile561fs) rs1599805729
NM_001083962.2(TCF4):c.1086G>A (p.Trp362Ter) rs398123560
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1357dup (p.Thr453fs) rs786200992
NM_001083962.2(TCF4):c.1414del (p.Val472fs) rs727504174
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) rs121909123
NM_001083962.2(TCF4):c.469del (p.Arg157fs) rs1569138023
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs) rs398123561
NM_001083962.2(TCF4):c.655+1G>T rs587784465
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter) rs727504175
NM_001101426.4(CRPPA):c.1030dup (p.Thr344fs) rs1554300194
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.1120-1G>T rs397515396
NM_001101426.4(CRPPA):c.1123_1126del (p.His375fs) rs1554291235
NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter) rs886042554
NM_001101426.4(CRPPA):c.184del (p.Val62fs) rs1048457038
NM_001101426.4(CRPPA):c.1A>T (p.Met1Leu) rs886043573
NM_001101426.4(CRPPA):c.258-1G>C rs767978961
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) rs368593151
NM_001110219.3(GJB6):c.261dup (p.Ala88fs) rs398124236
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110556.2(FLNA):c.2318_2319dup (p.Val774fs) rs1057515583
NM_001110556.2(FLNA):c.2339_2340insAA (p.Lys781fs) rs1057515582
NM_001110556.2(FLNA):c.2405-2A>G rs886044850
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter) rs398123614
NM_001110556.2(FLNA):c.3153dup (p.Val1052fs) rs398123616
NM_001110556.2(FLNA):c.4269_4277delinsTGGC (p.Leu1424fs) rs797044690
NM_001110556.2(FLNA):c.42del (p.Ala15fs) rs398123619
NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs) rs398123620
NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter) rs186214592
NM_001110556.2(FLNA):c.4777_4778dup (p.Thr1594fs) rs786200973
NM_001110556.2(FLNA):c.5132_5133delinsAA (p.Phe1711Ter) rs398123621
NM_001110556.2(FLNA):c.5278C>T (p.Gln1760Ter) rs886044824
NM_001110556.2(FLNA):c.5854del (p.Val1952fs) rs797044724
NM_001110556.2(FLNA):c.6245_6248dup (p.Ile2084fs) rs1057515584
NM_001110556.2(FLNA):c.6327del (p.Glu2110fs) rs1569551475
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) rs1060500717
NM_001110556.2(FLNA):c.7153C>T (p.Gln2385Ter) rs727503931
NM_001110556.2(FLNA):c.7551_7552+6del rs398123623
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110556.2(FLNA):c.7757-1G>C rs797044496
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1202dup (p.Pro402fs) rs797044733
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) rs61749724
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) rs61749747
NM_001110792.2(MECP2):c.789del (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001111.5(ADAR):c.1675C>T (p.Gln559Ter) rs1553212090
NM_001111.5(ADAR):c.2130dup (p.Asn711fs) rs1553211449
NM_001114753.3(ENG):c.1687-1G>T rs1554809106
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.690-2A>T rs1564455970
NM_001114753.3(ENG):c.880_881del (p.Asp294fs) rs886042916
NM_001122630.2(CDKN1C):c.398del (p.Pro133fs) rs1554938069
NM_001122630.2(CDKN1C):c.656del (p.Gln219fs) rs1554937790
NM_001122681.2(SH3BP2):c.1253C>G (p.Pro418Arg) rs121909146
NM_001122769.3(LCA5):c.1062C>G (p.Tyr354Ter) rs183261547
NM_001123385.2(BCOR):c.3267_3270dup (p.Pro1091Ter) rs1555915852
NM_001123385.2(BCOR):c.3468del (p.Leu1157fs) rs398124313
NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs) rs886042842
NM_001123385.2(BCOR):c.4862dup (p.Gly1622fs) rs797044647
NM_001123385.2(BCOR):c.776C>A (p.Ser259Ter) rs727503826
NM_001127222.2(CACNA1A):c.3822+1G>A rs794727355
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127464.2(ZNF469):c.7554del (p.Ser2519Alafs) rs886039575
NM_001127649.3(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_001127671.2(LIFR):c.653dup (p.Glu219fs) rs886042160
NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs) rs398123285
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs) rs1017750255
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs) rs756118312
NM_001130987.2(DYSF):c.1033+2T>C rs886042617
NM_001130987.2(DYSF):c.1093_1094del (p.Ala365fs) rs1553525756
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs) rs398123764
NM_001130987.2(DYSF):c.1167del (p.Ser390fs) rs886044355
NM_001130987.2(DYSF):c.1260del (p.Glu421fs) rs1559079887
NM_001130987.2(DYSF):c.1267_1276+4dup rs1573744795
NM_001130987.2(DYSF):c.1274_1276+4dup rs768425085
NM_001130987.2(DYSF):c.1372G>A (p.Gly458Arg) rs886042093
NM_001130987.2(DYSF):c.1450-3_1450-2del rs886043328
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) rs398123767
NM_001130987.2(DYSF):c.1493G>A (p.Trp498Ter) rs1559100639
NM_001130987.2(DYSF):c.1494-1G>A rs398123768
NM_001130987.2(DYSF):c.1494-2A>G rs398123769
NM_001130987.2(DYSF):c.1576+1G>A rs886044258
NM_001130987.2(DYSF):c.1576G>T (p.Val526Leu) rs886044537
NM_001130987.2(DYSF):c.1577-1655C>G rs886044410
NM_001130987.2(DYSF):c.1577-1G>A rs189923208
NM_001130987.2(DYSF):c.1589_1592dup (p.Phe532fs) rs1573928936
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter) rs886042641
NM_001130987.2(DYSF):c.167dup (p.Ile58fs) rs863225020
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter) rs886042633
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter) rs121908953
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg) rs201049092
NM_001130987.2(DYSF):c.1985-2del rs774047700
NM_001130987.2(DYSF):c.2088del (p.Ile699fs) rs886044390
NM_001130987.2(DYSF):c.2217-1G>T rs886044379
NM_001130987.2(DYSF):c.2302C>T (p.Gln768Ter) rs1027145211
NM_001130987.2(DYSF):c.2344G>T (p.Glu782Ter) rs886043901
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter) rs398123773
NM_001130987.2(DYSF):c.2378G>A (p.Trp793Ter) rs1559162681
NM_001130987.2(DYSF):c.2406_2409+1del rs398123774
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) rs121908956
NM_001130987.2(DYSF):c.2426dup (p.Asp810fs) rs752479889
NM_001130987.2(DYSF):c.2550_2553del (p.Thr851fs) rs755849745
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) rs794727636
NM_001130987.2(DYSF):c.2760dup (p.Lys921fs) rs1559177278
NM_001130987.2(DYSF):c.2826G>A (p.Trp942Ter) rs1553553888
NM_001130987.2(DYSF):c.2864+2T>A rs1553553943
NM_001130987.2(DYSF):c.2865-2A>C rs886043964
NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs) rs398123777
NM_001130987.2(DYSF):c.2948G>A (p.Trp983Ter) rs1268594965
NM_001130987.2(DYSF):c.3085+2T>C rs886042951
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3284G>A (p.Trp1095Ter) rs794727534
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) rs746315830
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter) rs1558513494
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs) rs398123780
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3483del (p.Cys1162fs) rs886042632
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs) rs886042827
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer) rs766341386
NM_001130987.2(DYSF):c.3695del (p.Pro1232fs) rs398123783
NM_001130987.2(DYSF):c.3757-2A>G rs886043149
NM_001130987.2(DYSF):c.3786_3787del (p.Ile1262fs) rs1558583697
NM_001130987.2(DYSF):c.3941C>G (p.Ser1314Ter) rs1553377740
NM_001130987.2(DYSF):c.396_397del (p.Leu133fs) rs398123784
NM_001130987.2(DYSF):c.410del (p.Pro137fs) rs886043342
NM_001130987.2(DYSF):c.4144C>T (p.Gln1382Ter) rs886042095
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs) rs398123786
NM_001130987.2(DYSF):c.4317dup (p.Ile1440fs) rs1553383144
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter) rs886043145
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter) rs886042635
NM_001130987.2(DYSF):c.4614del (p.Phe1538fs) rs886042578
NM_001130987.2(DYSF):c.4768del (p.Ile1590fs) rs1179051248
NM_001130987.2(DYSF):c.4843C>T (p.Gln1615Ter) rs1163488527
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) rs786200896
NM_001130987.2(DYSF):c.5003+1249G>T rs886042110
NM_001130987.2(DYSF):c.5004-1G>A rs886043170
NM_001130987.2(DYSF):c.5011G>T (p.Glu1671Ter) rs398123790
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs) rs1057519132
NM_001130987.2(DYSF):c.5174+1G>A rs886042581
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter) rs727503912
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs) rs769873428
NM_001130987.2(DYSF):c.5546+1G>T rs398123793
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5614G>T (p.Glu1872Ter) rs201592500
NM_001130987.2(DYSF):c.5642+1G>A rs727503915
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter) rs886043966
NM_001130987.2(DYSF):c.5763del (p.Val1922fs) rs1553416197
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.5785-824C>T rs1285082850
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) rs398123796
NM_001130987.2(DYSF):c.5938A>T (p.Lys1980Ter) rs1553420738
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001130987.2(DYSF):c.6063+1G>A rs398123798
NM_001130987.2(DYSF):c.6064-1G>C rs886042636
NM_001130987.2(DYSF):c.6139G>T (p.Glu2047Ter) rs886043489
NM_001130987.2(DYSF):c.6333del (p.Ala2111_Met2112insTer) rs886043884
NM_001130987.2(DYSF):c.682dup (p.His228fs) rs886042680
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter) rs886044381
NM_001130987.2(DYSF):c.759+1G>C rs398123800
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter) rs794727851
NM_001130987.2(DYSF):c.888+2T>A rs886042970
NM_001130987.2(DYSF):c.922del (p.Glu308fs) rs1553522133
NM_001130987.2(DYSF):c.951+2T>G rs886042590
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) rs121908963
NM_001130987.2(DYSF):c.995del (p.Glu332fs) rs886044386
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1453del (p.His485fs) rs1555494781
NM_001134407.3(GRIN2A):c.2890del (p.Gln964fs) rs886042168
NM_001134407.3(GRIN2A):c.3813G>A (p.Trp1271Ter) rs886043129
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) rs372354156
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs) rs886042613
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.7422_7423del (p.Gly2474_Asp2475insTer) rs1554169630
NM_001142800.2(EYS):c.8314del (p.Thr2772fs) rs1561994347
NM_001142800.2(EYS):c.8408dup (p.Asn2803fs) rs398123576
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) rs886044149
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001145026.2(PTPRQ):c.3867_3871del (p.Tyr1289_Lys1291delinsTer) rs1419144846
NM_001145026.2(PTPRQ):c.5390-1G>T rs886043240
NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter) rs886044238
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001159773.2(CANT1):c.278del (p.Leu93fs) rs767601069
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001164508.2(NEB):c.11184del (p.Lys3728fs) rs1553901624
NM_001164508.2(NEB):c.12221dup (p.Thr4075fs) rs1553883480
NM_001164508.2(NEB):c.1570-2A>G rs1553603958
NM_001164508.2(NEB):c.17541dup (p.Tyr5848fs) rs886043631
NM_001164508.2(NEB):c.17557_17558del (p.Glu5853fs) rs886044005
NM_001164508.2(NEB):c.18862_18872del (p.Val6288fs) rs886042141
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs) rs762780413
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer) rs794727136
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001165963.4(SCN1A):c.1029-1G>C rs398123579
NM_001165963.4(SCN1A):c.1162del (p.Tyr388fs) rs398123580
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.1177del (p.Arg393fs) rs1553546981
NM_001165963.4(SCN1A):c.1377+1G>C rs886043864
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2420dup (p.Thr808fs) rs786200989
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter) rs397514459
NM_001165963.4(SCN1A):c.2590-2A>G rs727504140
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter) rs794727337
NM_001165963.4(SCN1A):c.4284+2T>C rs398123595
NM_001165963.4(SCN1A):c.4812del (p.Gly1603_Trp1604insTer) rs886043532
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val) rs121917921
NM_001165963.4(SCN1A):c.5539del (p.Leu1847fs) rs398123599
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.830del (p.Cys277fs) rs794727786
NM_001170629.2(CHD8):c.5266dup (p.Tyr1756fs) rs886043086
NM_001171.6(ABCC6):c.2814C>A (p.Tyr938Ter) rs72653704
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001174150.2(ARL13B):c.131-1G>T rs373604132
NM_001182.5(ALDH7A1):c.1093+1G>A rs794727058
NM_001182.5(ALDH7A1):c.1317+2T>C rs1389460034
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs) rs778003597
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1101del (p.Ile368fs) rs886044166
NM_001184880.2(PCDH19):c.1265_1266del (p.Thr422fs) rs886043572
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) rs794726897
NM_001184880.2(PCDH19):c.841del (p.Val281fs) rs1569315381
NM_001195553.2(DCX):c.763G>T (p.Glu255Ter) rs727503898
NM_001195553.2(DCX):c.781C>T (p.Gln261Ter) rs587783588
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter) rs1567411053
NM_001199397.3(NEK1):c.117+1G>A rs794727285
NM_001199973.2(RPL36A-HNRNPH2):c.300+2619T>G rs797044497
NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T rs727503948
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001204.7(BMPR2):c.1128+1G>A rs863223420
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs) rs763941231
NM_001206979.2(NR1H4):c.547C>T (p.Arg183Ter) rs1555335324
NM_001242957.3(MAK):c.170_171del (p.Leu57fs) rs886043417
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs) rs778390089
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.22145_22146del (p.Val7381_Phe7382insTer) rs794727888
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs) rs886042735
NM_001277115.2(DNAH11):c.4818-2A>G rs886044152
NM_001278116.2(L1CAM):c.23del (p.Val8fs) rs398123362
NM_001278116.2(L1CAM):c.2879del (p.Glu960fs) rs398123364
NM_001278116.2(L1CAM):c.3201T>G (p.Tyr1067Ter) rs1569544629
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs) rs756807665
NM_001289104.2(PRKCSH):c.1481_1484del (p.Lys494fs) rs794727187
NM_001291415.2(KDM6A):c.151G>T (p.Gly51Ter) rs886043476
NM_001291867.2(NHS):c.1016G>A (p.Trp339Ter) rs398124611
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter) rs132630322
NM_001291867.2(NHS):c.2633del (p.Gly878fs) rs727504044
NM_001291867.2(NHS):c.400del (p.Arg134fs) rs398124608
NM_001291867.2(NHS):c.565+1G>T rs727504040
NM_001297.5(CNGB1):c.2556dup (p.Lys853fs) rs797044693
NM_001298.3(CNGA3):c.1320del (p.Trp440fs) rs1553450762
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr) rs121917834
NM_001318510.2(ACSL4):c.845_846del (p.His282fs) rs886042180
NM_001319074.4(RAX2):c.344C>A (p.Ser115Ter) rs398124431
NM_001323289.2(CDKL5):c.1108_1109dup (p.Asn370fs) rs886043742
NM_001323289.2(CDKL5):c.1111del (p.Ala372fs) rs1555951958
NM_001323289.2(CDKL5):c.1152C>G (p.Tyr384Ter) rs794727064
NM_001323289.2(CDKL5):c.1365_1366insA (p.Gly456fs) rs886044424
NM_001323289.2(CDKL5):c.1553del (p.Pro518fs) rs886042899
NM_001323289.2(CDKL5):c.1891_1916del (p.Ile631fs) rs794727063
NM_001323289.2(CDKL5):c.212del (p.Asn71fs) rs886043296
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001323289.2(CDKL5):c.713del (p.Phe238fs) rs1555950486
NM_001329943.3(KIAA0586):c.908del (p.Pro303fs) rs1555378721
NM_001330078.2(NRXN1):c.3245-2A>G rs886042846
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001347721.2(DYRK1A):c.542_545del (p.Ile181fs) rs1555982601
NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs) rs797044652
NM_001349338.3(FOXP1):c.1317C>A (p.Tyr439Ter) rs794727155
NM_001349338.3(FOXP1):c.1329C>A (p.Tyr443Ter) rs1064793944
NM_001349338.3(FOXP1):c.1624C>T (p.Gln542Ter) rs794727215
NM_001349338.3(FOXP1):c.1670_1685dup (p.Ser562fs) rs398124429
NM_001349338.3(FOXP1):c.622C>T (p.Gln208Ter) rs1553709881
NM_001351132.2(PEX5):c.449-2A>G rs1555176945
NM_001352514.2(HLCS):c.2065C>T (p.Gln689Ter) rs794727957
NM_001353214.3(DYM):c.122del (p.Phe41fs) rs794727290
NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr) rs28933408
NM_001354712.2(THRB):c.67C>T (p.Arg23Ter) rs886043743
NM_001354768.3(NRL):c.151C>T (p.Pro51Ser) rs794727281
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln) rs121909768
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001366385.1(CARD14):c.412G>A (p.Glu138Lys) rs1567872320
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs) rs886044697
NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter) rs764139968
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_001368894.2(PAX6):c.1280_1284dup (p.Ser429fs) rs797044642
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.399+1G>A rs398123295
NM_001368894.2(PAX6):c.46del (p.Val16fs) rs398123296
NM_001368894.2(PAX6):c.524del (p.Gly175fs) rs886043350
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) rs121907916
NM_001368894.2(PAX6):c.921_936dup (p.Ile313fs) rs797044627
NM_001368894.2(PAX6):c.994del (p.Thr332fs) rs1554983140
NM_001369.3(DNAH5):c.271G>T (p.Glu91Ter) rs750649191
NM_001369.3(DNAH5):c.4797-1G>C rs1561449604
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys) rs398124435
NM_001370259.2(MEN1):c.1685dup (p.Glu563fs) rs398124436
NM_001370259.2(MEN1):c.307del (p.Leu103fs) rs794728639
NM_001370259.2(MEN1):c.912+1G>A rs398124437
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter) rs386134260
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) rs398123138
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001371596.2(MFSD8):c.998+1G>A rs1553946656
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter) rs1553476382
NM_001374353.1(GLI2):c.2748_2794del (p.Leu918fs) rs1558941490
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn) rs121909101
NM_001374385.1(ATP8B1):c.2453_2456del (p.Asn818fs) rs1568183268
NM_001374385.1(ATP8B1):c.2605del (p.Thr869fs) rs1568183127
NM_001374385.1(ATP8B1):c.3410C>G (p.Ser1137Ter) rs74414989
NM_001374385.1(ATP8B1):c.614dup (p.Asn205fs) rs761784230
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001374828.1(ARID1B):c.4147_4149delinsAG (p.Tyr1383fs) rs1554233122
NM_001374828.1(ARID1B):c.4383-1G>A rs886044620
NM_001374828.1(ARID1B):c.4794C>G (p.Tyr1598Ter) rs1562345819
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.5846del (p.Glu1949fs) rs794727595
NM_001377.3(DYNC2H1):c.8145_8146delinsAT (p.Tyr2715_Gln2716delinsTer) rs1565390180
NM_001378120.1(MBD5):c.340_347del (p.Lys114fs) rs794727928
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs) rs1558648759
NM_001378454.1(ALMS1):c.7654del (p.Arg2552fs) rs1553404662
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter) rs549857076
NM_001378477.3(NYX):c.23-1_23delinsTT rs1555967031
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del) rs281865194
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001378615.1(CC2D2A):c.1666del (p.Glu555_Ile556insTer) rs773740057
NM_001378615.1(CC2D2A):c.199del (p.Glu67fs) rs1433294475
NM_001378615.1(CC2D2A):c.3545G>A (p.Trp1182Ter) rs1560188288
NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter) rs375278294
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001378615.1(CC2D2A):c.4065+2T>C rs1179041639
NM_001378615.1(CC2D2A):c.4179+1G>A rs886044295
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378615.1(CC2D2A):c.4295_4298del (p.Gly1431_Cys1432insTer) rs1560196436
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378615.1(CC2D2A):c.4489C>T (p.Gln1497Ter) rs1553845302
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001378778.1(MPDZ):c.5302C>T (p.Gln1768Ter) rs886043499
NM_001379081.2(FREM1):c.4941C>A (p.Tyr1647Ter) rs373880888
NM_001379110.1(SLC9A6):c.448-1G>A rs797044508
NM_001379110.1(SLC9A6):c.916C>T (p.Gln306Ter) rs398124224
NM_001379500.1(COL18A1):c.2056del (p.Arg686fs) rs886043809
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter) rs886044058
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer) rs1554882652
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.2870C>A (p.Ser957Ter) rs1440105492
NM_001384474.1(LOXHD1):c.894T>G (p.Tyr298Ter) rs886043441
NM_001384732.1(CPLANE1):c.1372-2A>G rs886043786
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.9085del (p.Ser3029fs) rs794727691
NM_001386393.1(PANK2):c.-21G>T rs780551883
NM_001393500.2(TOMT):c.259+1G>A rs1565330066
NM_001399.5(EDA):c.396+2T>C rs727504814
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) rs876657686
NM_001429.4(EP300):c.2540dup (p.Ser848fs) rs1569107391
NM_001429.4(EP300):c.4065C>A (p.Tyr1355Ter) rs886043598
NM_001453.3(FOXC1):c.290dup (p.Lys98fs) rs886044143
NM_001457.4(FLNB):c.6616G>T (p.Gly2206Ter) rs886043158
NM_001793.6(CDH3):c.895C>T (p.Gln299Ter) rs866290802
NM_001844.4(COL2A1):c.2465delG (p.Gly822Valfs) rs886044292
NM_001844.5(COL2A1):c.1023+1G>A rs886043794
NM_001844.5(COL2A1):c.1052del (p.Gly351fs) rs398123628
NM_001844.5(COL2A1):c.1056del (p.Ala353fs) rs794727185
NM_001844.5(COL2A1):c.1071del (p.Pro358fs) rs886043797
NM_001844.5(COL2A1):c.1123-1G>A rs1565684864
NM_001844.5(COL2A1):c.1214del (p.Gly405fs) rs794727225
NM_001844.5(COL2A1):c.1358G>C (p.Gly453Ala) rs794727339
NM_001844.5(COL2A1):c.1420-2A>C rs794727377
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys) rs121912880
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001844.5(COL2A1):c.1924G>T (p.Gly642Ter) rs794727472
NM_001844.5(COL2A1):c.2015G>C (p.Gly672Ala) rs794727546
NM_001844.5(COL2A1):c.2219dup (p.Gly741fs) rs1565677720
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter) rs886043410
NM_001844.5(COL2A1):c.2382del (p.Gly795fs) rs886044151
NM_001844.5(COL2A1):c.2530C>T (p.Gln844Ter) rs794727607
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) rs794727261
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) rs121912866
NM_001844.5(COL2A1):c.297del (p.Gln99fs) rs886044245
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001844.5(COL2A1):c.310G>T (p.Gly104Ter) rs764210489
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) rs121912873
NM_001844.5(COL2A1):c.3382G>C (p.Gly1128Arg) rs886042612
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter) rs886042651
NM_001844.5(COL2A1):c.3791_3794del (p.Asn1264fs) rs794727748
NM_001844.5(COL2A1):c.3887-1G>C rs1565666318
NM_001844.5(COL2A1):c.4195_4205delinsAGCATTGCC (p.Tyr1399fs) rs1555164385
NM_001844.5(COL2A1):c.4328del (p.Gly1443fs) rs1555164232
NM_001844.5(COL2A1):c.4447_4450del (p.Pro1483fs) rs794727761
NM_001844.5(COL2A1):c.714dup (p.Met239fs) rs886043934
NM_001844.5(COL2A1):c.762+1G>A rs794727026
NM_001844.5(COL2A1):c.85+1G>C rs727503882
NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp) rs121912877
NM_001848.3(COL6A1):c.1002+1G>A rs886043700
NM_001848.3(COL6A1):c.1002+1G>T rs886043700
NM_001848.3(COL6A1):c.1002+2T>G rs1322590833
NM_001848.3(COL6A1):c.1003-12_1006delinsGGA rs1556425832
NM_001848.3(COL6A1):c.1003-1G>A rs886043330
NM_001848.3(COL6A1):c.1003-2del rs1556425835
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu) rs794727121
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys) rs886043321
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val) rs121912935
NM_001848.3(COL6A1):c.1039_1052del (p.Lys346_Gly347insTer) rs886043291
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.1056+1del rs1556425853
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.1611+1G>A rs886042748
NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs) rs1569518771
NM_001848.3(COL6A1):c.2122C>T (p.Gln708Ter) rs1569519109
NM_001848.3(COL6A1):c.2160dup (p.Asn721fs) rs1249738773
NM_001848.3(COL6A1):c.2435-2A>G rs940473416
NM_001848.3(COL6A1):c.315_349del (p.Met106fs) rs886043147
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg) rs121912936
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs) rs886043354
NM_001848.3(COL6A1):c.805-2A>G rs398123639
NM_001848.3(COL6A1):c.811C>T (p.Arg271Ter) rs1391624796
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.3(COL6A1):c.859-1G>C rs1556425531
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.903+1G>T rs1569518119
NM_001848.3(COL6A1):c.904-2A>G rs1057519174
NM_001848.3(COL6A1):c.904G>A (p.Gly302Arg) rs794727028
NM_001848.3(COL6A1):c.904G>C (p.Gly302Arg) rs794727028
NM_001848.3(COL6A1):c.928_930del (p.Lys310del) rs886043114
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001848.3(COL6A1):c.930+1G>A rs886042902
NM_001848.3(COL6A1):c.931-1G>A rs886042354
NM_001848.3(COL6A1):c.931-1G>C rs886042354
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp) rs886044231
NM_001848.3(COL6A1):c.957+1G>A rs886044535
NM_001848.3(COL6A1):c.957+2T>C rs794727060
NM_001848.3(COL6A1):c.957_957+7del rs1556425687
NM_001848.3(COL6A1):c.98-2_103del rs1556423703
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs) rs886043164
NM_001849.4(COL6A2):c.1000-1G>T rs1555873358
NM_001849.4(COL6A2):c.1000-2A>C rs1555873356
NM_001849.4(COL6A2):c.1000-2_1000-1inv
NM_001849.4(COL6A2):c.1053+1G>A rs886043187
NM_001849.4(COL6A2):c.1053+1G>C rs886043187
NM_001849.4(COL6A2):c.1053+2del rs886044140
NM_001849.4(COL6A2):c.1054-2A>G rs886044023
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter) rs387906609
NM_001849.4(COL6A2):c.1180-1G>C rs751409618
NM_001849.4(COL6A2):c.1396-11_1396-2del rs886044484
NM_001849.4(COL6A2):c.1458+1G>A rs886044526
NM_001849.4(COL6A2):c.1522-1G>A rs398123646
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001849.4(COL6A2):c.1751del (p.Pro584fs) rs886044398
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.4(COL6A2):c.2284_2285del (p.Met762fs) rs778129335
NM_001849.4(COL6A2):c.265C>T (p.Gln89Ter) rs1555871390
NM_001849.4(COL6A2):c.736-2A>G rs1057518925
NM_001849.4(COL6A2):c.736-7_739del rs1555872143
NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp) rs886042943
NM_001849.4(COL6A2):c.796_801+6del rs1555872200
NM_001849.4(COL6A2):c.801+1G>A rs794727715
NM_001849.4(COL6A2):c.801+1G>T rs794727715
NM_001849.4(COL6A2):c.802-2A>G rs886044399
NM_001849.4(COL6A2):c.812G>A (p.Gly271Asp) rs794727788
NM_001849.4(COL6A2):c.830del (p.Gly277fs) rs1555872819
NM_001849.4(COL6A2):c.855+2T>G rs113525292
NM_001849.4(COL6A2):c.856-2A>C rs886044466
NM_001849.4(COL6A2):c.865G>T (p.Gly289Cys) rs886043270
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val) rs794727855
NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg) rs1555872873
NM_001849.4(COL6A2):c.900+1G>A rs886044261
NM_001849.4(COL6A2):c.900+1G>C rs886044261
NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser) rs886042705
NM_001854.4(COL11A1):c.3168+1G>T rs886042653
NM_001854.4(COL11A1):c.3709-1G>A rs727503881
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001854.4(COL11A1):c.4032+1G>A rs1553200868
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_001854.4(COL11A1):c.4554+1G>C rs886044244
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter) rs200214298
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter) rs398123654
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) rs80356774
NM_001876.4(CPT1A):c.548_549del (p.Val183fs) rs886042250
NM_001904.4(CTNNB1):c.1444C>T (p.Gln482Ter) rs1559474557
NM_001904.4(CTNNB1):c.1494dup (p.His499fs) rs1553631896
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.251G>A (p.Trp84Ter) rs398123665
NM_001918.5(DBT):c.272_275del (p.Thr91fs) rs398123666
NM_001918.5(DBT):c.339_345del (p.Tyr114fs) rs398123667
NM_001918.5(DBT):c.360del (p.Lys120fs) rs398123668
NM_001918.5(DBT):c.433+1G>T rs794727635
NM_001918.5(DBT):c.51+1G>T rs398123669
NM_001918.5(DBT):c.773-2A>G rs398123674
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001927.4(DES):c.1069G>C (p.Ala357Pro) rs58898021
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del) rs58409037
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) rs59308628
NM_001927.4(DES):c.1213del (p.Tyr405fs) rs886043080
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) rs121913005
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.373A>T (p.Lys125Ter) rs886043000
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_001927.4(DES):c.735G>C (p.Glu245Asp) rs267607486
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002180.3(IGHMBP2):c.2197_2203delinsCA (p.Ile733fs) rs886042313
NM_002180.3(IGHMBP2):c.242del (p.Asn81fs) rs1249076926
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter) rs750024353
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs) rs886043774
NM_002185.5(IL7R):c.340_341del (p.Lys114fs) rs1561421608
NM_002225.5(IVD):c.650del (p.Pro217fs) rs1364046355
NM_002294.3(LAMP2):c.579_586del (p.Lys193fs) rs398123685
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002303.6(LEPR):c.2296A>T (p.Lys766Ter) rs765551290
NM_002303.6(LEPR):c.479del (p.His160fs) rs1557670990
NM_002335.4(LRP5):c.185del (p.Leu62fs) rs1555072861
NM_002335.4(LRP5):c.2718_2721del (p.Met907fs) rs1244761864
NM_002335.4(LRP5):c.2827+1G>A rs1565092365
NM_002397.5(MEF2C):c.926dup (p.Gly310fs) rs786200981
NM_002427.4(MMP13):c.772dup (p.Asp258fs) rs797044754
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002547.3(OPHN1):c.772del (p.Gln258fs) rs886044499
NM_002615.7(SERPINF1):c.653del (p.Val218fs) rs398122520
NM_002617.4(PEX10):c.295del (p.His99fs) rs1557910651
NM_002617.4(PEX10):c.761del (p.Gly254fs) rs1553231820
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) rs62641225
NM_002617.4(PEX10):c.867_868insG (p.His290fs) rs797044762
NM_002633.3(PGM1):c.184G>C (p.Asp62His) rs587777403
NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del) rs398122386
NM_002693.3(POLG):c.1024-1G>C rs1567192203
NM_002693.3(POLG):c.1073del (p.Glu358fs) rs763418954
NM_002693.3(POLG):c.160C>T (p.Gln54Ter) rs774768199
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs) rs886043241
NM_002693.3(POLG):c.3643+2T>C rs1335880349
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys) rs397507507
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
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>G (p.Asn308Ser) rs121918455
NM_002863.5(PYGL):c.1648dup (p.Leu550fs) rs529502292
NM_002878.4(RAD51D):c.326dup (p.Gly110fs) rs730882119
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly) rs397516815
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002968.3(SALL1):c.727C>T (p.Gln243Ter) rs886044708
NM_003000.3(SDHB):c.111_112dup (p.Arg38fs) rs398123690
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.72+1G>T rs587782703
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs) rs386134195
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro) rs1561560424
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter) rs55683010
NM_003106.4(SOX2):c.518_522dup (p.Gln175Ter) rs886043936
NM_003106.4(SOX2):c.59dup (p.Gly21fs) rs398122803
NM_003106.4(SOX2):c.70_89del (p.Asn24fs) rs398123693
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003283.6(TNNT1):c.31_32+1del rs944152647
NM_003283.6(TNNT1):c.323C>G (p.Ser108Ter) rs727504177
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp) rs137853305
NM_003361.4(UMOD):c.744C>G (p.Cys248Trp) rs886043751
NM_003361.4(UMOD):c.944G>A (p.Cys315Tyr) rs398123698
NM_003401.5(XRCC4):c.25del (p.His9fs) rs869320677
NM_003413.4(ZIC3):c.1025del (p.Ser342fs) rs886042663
NM_003482.4(KMT2D):c.10623_10629delinsCGCAAGTCACG (p.Leu3542fs) rs398123699
NM_003482.4(KMT2D):c.10819C>T (p.Gln3607Ter) rs398123701
NM_003482.4(KMT2D):c.10834C>T (p.Gln3612Ter) rs398123702
NM_003482.4(KMT2D):c.11149C>T (p.Gln3717Ter) rs398123704
NM_003482.4(KMT2D):c.11201_11202del (p.Leu3734fs) rs398123706
NM_003482.4(KMT2D):c.11214del (p.Gln3738fs) rs1555188885
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.4(KMT2D):c.11713C>T (p.Gln3905Ter) rs886042253
NM_003482.4(KMT2D):c.11939del (p.Gln3980fs) rs794727610
NM_003482.4(KMT2D):c.12406C>T (p.Gln4136Ter) rs398123711
NM_003482.4(KMT2D):c.12430C>T (p.Gln4144Ter) rs398123712
NM_003482.4(KMT2D):c.12481del (p.Glu4161fs) rs794727611
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) rs1057517992
NM_003482.4(KMT2D):c.1300dup (p.Leu434fs) rs398123715
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.4(KMT2D):c.13324del (p.Ala4442fs) rs886043505
NM_003482.4(KMT2D):c.133del (p.Ser45fs) rs727503990
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) rs587783692
NM_003482.4(KMT2D):c.13780dup (p.Ala4594fs) rs797044740
NM_003482.4(KMT2D):c.14580dup (p.Asp4861Ter) rs398123720
NM_003482.4(KMT2D):c.14885dup (p.Pro4963fs) rs797044744
NM_003482.4(KMT2D):c.15030dup (p.Glu5011fs) rs398123722
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.15172del (p.Val5058fs) rs794727689
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys) rs794727688
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.15953_15956del (p.Leu5318fs) rs398123732
NM_003482.4(KMT2D):c.16109del (p.Gly5370fs) rs398123733
NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs) rs398123735
NM_003482.4(KMT2D):c.16412+1G>T rs794727752
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) rs587783703
NM_003482.4(KMT2D):c.177-9_178del rs794727497
NM_003482.4(KMT2D):c.1814_1815del (p.Glu605fs) rs727503989
NM_003482.4(KMT2D):c.1940del (p.Pro647fs) rs770315135
NM_003482.4(KMT2D):c.1966del (p.Leu656fs) rs886042284
NM_003482.4(KMT2D):c.2624_2625delinsAGGCCAAAA (p.Pro875fs) rs1555196720
NM_003482.4(KMT2D):c.2747_2748delinsAGCTGAGCCATCC (p.Pro916fs) rs797044630
NM_003482.4(KMT2D):c.2797+1G>A rs727503988
NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter) rs587783711
NM_003482.4(KMT2D):c.3532C>T (p.Gln1178Ter) rs398123741
NM_003482.4(KMT2D):c.3582dup (p.Thr1195fs) rs796065328
NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter) rs727503987
NM_003482.4(KMT2D):c.3834_3846del (p.Ile1279fs) rs398123743
NM_003482.4(KMT2D):c.4009G>T (p.Glu1337Ter) rs727503986
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs) rs756471180
NM_003482.4(KMT2D):c.4265G>A (p.Trp1422Ter) rs794727143
NM_003482.4(KMT2D):c.4485C>G (p.Tyr1495Ter) rs574622908
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter) rs886043414
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.5131A>T (p.Lys1711Ter) rs794727342
NM_003482.4(KMT2D):c.5423del (p.Gly1808fs) rs794727379
NM_003482.4(KMT2D):c.5645-2A>G rs398123750
NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter) rs794727420
NM_003482.4(KMT2D):c.5908_5915del (p.Asp1970fs) rs398123751
NM_003482.4(KMT2D):c.5998C>T (p.Gln2000Ter) rs1565798715
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.7066C>T (p.Gln2356Ter) rs398123757
NM_003482.4(KMT2D):c.7140del (p.Gln2380fs) rs398123758
NM_003482.4(KMT2D):c.7375_7376del (p.Ser2459fs) rs794727548
NM_003482.4(KMT2D):c.7643dup (p.Pro2549fs) rs886043495
NM_003482.4(KMT2D):c.7903C>T (p.Arg2635Ter) rs794727549
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter) rs727503983
NM_003482.4(KMT2D):c.8794_8795del (p.Gln2932fs) rs1565788703
NM_003482.4(KMT2D):c.9041_9042del (p.Leu3014fs) rs886043252
NM_003482.4(KMT2D):c.9265dup (p.Val3089fs) rs1333678798
NM_003482.4(KMT2D):c.9937_9939delinsA (p.Leu3313fs) rs1555190224
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs) rs1553370437
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs) rs886042504
NM_003494.4(DYSF):c.1481-1G>A rs398123770
NM_003494.4(DYSF):c.1642del rs398123772
NM_003494.4(DYSF):c.1642dup rs398123772
NM_003611.3(OFD1):c.111+2T>C rs312262809
NM_003611.3(OFD1):c.1543-2A>C rs398123809
NM_003611.3(OFD1):c.458_459dup (p.Lys154fs) rs398123810
NM_003630.3(PEX3):c.331+2_331+5del rs1562653663
NM_003630.3(PEX3):c.856C>T (p.Arg286Ter) rs147556993
NM_003673.4(TCAP):c.103G>T (p.Glu35Ter) rs779699520
NM_003722.5(TP63):c.1837_1841del (p.Pro613fs) rs794727122
NM_003742.4(ABCB11):c.1069G>T (p.Gly357Ter) rs886043935
NM_003742.4(ABCB11):c.1271del (p.Asn424fs) rs886043703
NM_003742.4(ABCB11):c.1354_1427del (p.Ala452fs) rs1574453486
NM_003742.4(ABCB11):c.150+1G>A rs886043875
NM_003742.4(ABCB11):c.1631del (p.Leu544fs) rs1553466489
NM_003742.4(ABCB11):c.167C>G (p.Ser56Ter) rs11568361
NM_003742.4(ABCB11):c.1810-1G>A rs1553466082
NM_003742.4(ABCB11):c.1948del (p.Tyr650fs) rs1558894166
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs) rs1064797270
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys) rs1559183717
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg) rs72549399
NM_003742.4(ABCB11):c.2950del (p.Cys984fs) rs1559183490
NM_003742.4(ABCB11):c.379del (p.Thr127fs) rs1558927163
NM_003742.4(ABCB11):c.390-1G>T rs1558917090
NM_003742.4(ABCB11):c.409G>T (p.Glu137Ter) rs1026511416
NM_003742.4(ABCB11):c.847G>T (p.Glu283Ter) rs1558912774
NM_003865.3(HESX1):c.511_512del (p.Gln171fs) rs752434998
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter) rs398123812
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) rs772264564
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer) rs111033335
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs) rs886043375
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter) rs398123827
NM_004006.3(DMD):c.10062T>A (p.Tyr3354Ter) rs886042875
NM_004006.3(DMD):c.10086+1G>A rs398123828
NM_004006.3(DMD):c.10086+1G>T rs398123828
NM_004006.3(DMD):c.10087-2A>G rs1569420861
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.3(DMD):c.10126del (p.Val3375_Leu3376insTer) rs886043676
NM_004006.3(DMD):c.1012G>T (p.Glu338Ter) rs398123830
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.3(DMD):c.10150del (p.Arg3384fs) rs886039663
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.10223+1G>A rs398123834
NM_004006.3(DMD):c.10258dup (p.Ser3420fs) rs398123835
NM_004006.3(DMD):c.10279C>T (p.Gln3427Ter) rs886042691
NM_004006.3(DMD):c.10361del (p.Tyr3454fs) rs886043084
NM_004006.3(DMD):c.10447_10448del (p.Ser3483fs) rs398123837
NM_004006.3(DMD):c.10453del (p.Pro3484_Leu3485insTer) rs886043375
NM_004006.3(DMD):c.10454del (p.Leu3485fs) rs398123839
NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter) rs886042495
NM_004006.3(DMD):c.1047dup (p.Glu350fs) rs1556876421
NM_004006.3(DMD):c.1048G>T (p.Glu350Ter) rs398123840
NM_004006.3(DMD):c.10504del (p.Glu3502fs) rs1556024147
NM_004006.3(DMD):c.10519G>T (p.Glu3507Ter) rs1556024095
NM_004006.3(DMD):c.10554-2A>G rs794727890
NM_004006.3(DMD):c.10572T>A (p.Tyr3524Ter) rs886043817
NM_004006.3(DMD):c.10625del (p.Pro3542fs) rs398123844
NM_004006.3(DMD):c.1062G>A (p.Trp354Ter) rs1569376447
NM_004006.3(DMD):c.10650_10651dup (p.Gln3551fs) rs886044325
NM_004006.3(DMD):c.1070del (p.Ser357fs) rs794726994
NM_004006.3(DMD):c.10797+5G>A rs398123846
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) rs794726993
NM_004006.3(DMD):c.1128dup (p.Asp377fs) rs886044624
NM_004006.3(DMD):c.1150-1G>A rs886043251
NM_004006.3(DMD):c.1150-2A>G rs794727030
NM_004006.3(DMD):c.1255G>T (p.Glu419Ter) rs1220963408
NM_004006.3(DMD):c.1261C>T (p.Gln421Ter) rs398123852
NM_004006.3(DMD):c.1286C>A (p.Ser429Ter) rs398123853
NM_004006.3(DMD):c.1286C>G (p.Ser429Ter) rs398123853
NM_004006.3(DMD):c.1306dup (p.Val436fs) rs398123854
NM_004006.3(DMD):c.1332-9A>G rs72468700
NM_004006.3(DMD):c.133C>T (p.Gln45Ter) rs794727499
NM_004006.3(DMD):c.1341_1342dup (p.Val448fs) rs398123856
NM_004006.3(DMD):c.1371del (p.Glu459fs) rs398123857
NM_004006.3(DMD):c.137_138dup (p.Gly47fs) rs398123859
NM_004006.3(DMD):c.1387_1408del (p.Trp463fs) rs886042616
NM_004006.3(DMD):c.1417A>T (p.Lys473Ter) rs886042499
NM_004006.3(DMD):c.1465C>T (p.Gln489Ter) rs398123861
NM_004006.3(DMD):c.1482+1G>C rs398123862
NM_004006.3(DMD):c.1482+1G>T rs398123862
NM_004006.3(DMD):c.14_15delinsT (p.Glu5fs) rs796065325
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs) rs398123863
NM_004006.3(DMD):c.1530dup (p.Thr511fs) rs886043376
NM_004006.3(DMD):c.1533_1534dup (p.His512fs) rs886044440
NM_004006.3(DMD):c.1533_1536del (p.His512fs) rs794727097
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter) rs763936813
NM_004006.3(DMD):c.1602+1G>T rs1057517960
NM_004006.3(DMD):c.1603-2A>C rs773779441
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter) rs398123865
NM_004006.3(DMD):c.1620G>A (p.Trp540Ter) rs1569230389
NM_004006.3(DMD):c.1652G>A (p.Trp551Ter) rs1569230215
NM_004006.3(DMD):c.1659_1660insGTAA (p.Leu554fs) rs1556810362
NM_004006.3(DMD):c.1663C>T (p.Gln555Ter) rs863224983
NM_004006.3(DMD):c.1704+1G>A rs794727123
NM_004006.3(DMD):c.175_179dup (p.Lys61fs) rs886043288
NM_004006.3(DMD):c.1769_1772dup (p.Lys591delinsAsnTer) rs1601808412
NM_004006.3(DMD):c.1812+2T>A rs1556809625
NM_004006.3(DMD):c.186+2T>A rs886043822
NM_004006.3(DMD):c.1886C>A (p.Ser629Ter) rs398123867
NM_004006.3(DMD):c.1912C>T (p.Gln638Ter) rs794727170
NM_004006.3(DMD):c.1956del (p.Asp652fs) rs886043640
NM_004006.3(DMD):c.1978_1979del (p.Lys660fs) rs1569213903
NM_004006.3(DMD):c.1990C>T (p.Gln664Ter) rs398123870
NM_004006.3(DMD):c.2032C>T (p.Gln678Ter) rs398123872
NM_004006.3(DMD):c.2052_2053del (p.Val685fs) rs886043699
NM_004006.3(DMD):c.2125del (p.Gln709fs) rs398123875
NM_004006.3(DMD):c.2129del (p.Lys710fs) rs1569169560
NM_004006.3(DMD):c.2132del (p.Lys711fs) rs1556780579
NM_004006.3(DMD):c.2168+2T>G rs886042618
NM_004006.3(DMD):c.2195dup (p.His732fs) rs1569565192
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs) rs398123881
NM_004006.3(DMD):c.2294_2297del (p.Ala765fs) rs398123882
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter) rs201366610
NM_004006.3(DMD):c.2316_2317del (p.Lys773fs) rs886042437
NM_004006.3(DMD):c.2332C>T (p.Gln778Ter) rs398123883
NM_004006.3(DMD):c.2380+1G>C rs398123884
NM_004006.3(DMD):c.2381-1G>T rs398123887
NM_004006.3(DMD):c.2416G>T (p.Glu806Ter) rs1557383761
NM_004006.3(DMD):c.2419C>T (p.Gln807Ter) rs398123888
NM_004006.3(DMD):c.2479G>T (p.Glu827Ter) rs794727323
NM_004006.3(DMD):c.2484T>G (p.Tyr828Ter) rs727503858
NM_004006.3(DMD):c.2512C>T (p.Gln838Ter) rs886042351
NM_004006.3(DMD):c.2547del (p.Glu850fs) rs398123895
NM_004006.3(DMD):c.2556G>A (p.Trp852Ter) rs1429329309
NM_004006.3(DMD):c.2601_2602del (p.Gln869fs) rs794727322
NM_004006.3(DMD):c.2603del (p.Ser868fs) rs886042348
NM_004006.3(DMD):c.2622+1G>A rs398123901
NM_004006.3(DMD):c.2623-3C>G rs863224988
NM_004006.3(DMD):c.264+1G>A rs1569533147
NM_004006.3(DMD):c.2650C>T (p.Gln884Ter) rs398123903
NM_004006.3(DMD):c.2755A>T (p.Lys919Ter) rs727503850
NM_004006.3(DMD):c.2797C>T (p.Gln933Ter) rs756949497
NM_004006.3(DMD):c.2803+1G>C rs398123908
NM_004006.3(DMD):c.2804-1G>A rs398123909
NM_004006.3(DMD):c.2804-1G>T rs398123909
NM_004006.3(DMD):c.2804-2A>T rs794727357
NM_004006.3(DMD):c.2815_2816del (p.Leu939fs) rs794727358
NM_004006.3(DMD):c.2816T>A (p.Leu939Ter) rs398123910
NM_004006.3(DMD):c.283G>T (p.Gly95Ter) rs1557058415
NM_004006.3(DMD):c.2861G>A (p.Trp954Ter) rs886043909
NM_004006.3(DMD):c.28del (p.Cys10fs) rs398123913
NM_004006.3(DMD):c.2914del (p.Tyr972fs) rs1569564281
NM_004006.3(DMD):c.291dup (p.Asp98Ter) rs797044756
NM_004006.3(DMD):c.2933_2934del (p.Arg978fs) rs794727359
NM_004006.3(DMD):c.2950-2A>T rs398123915
NM_004006.3(DMD):c.2956C>T (p.Gln986Ter) rs727503844
NM_004006.3(DMD):c.2968C>T (p.Gln990Ter) rs1233380601
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.3121C>T (p.Gln1041Ter) rs128626245
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.319dup (p.Thr107fs) rs1557058353
NM_004006.3(DMD):c.3220G>T (p.Glu1074Ter) rs1569563751
NM_004006.3(DMD):c.3238del (p.Asp1080fs) rs886043052
NM_004006.3(DMD):c.3257dup (p.Gln1087fs) rs1569563740
NM_004006.3(DMD):c.3276+1G>A rs398123934
NM_004006.3(DMD):c.3276+2del rs1557369964
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter) rs398123935
NM_004006.3(DMD):c.3309_3313del (p.Ser1104fs) rs1557369493
NM_004006.3(DMD):c.3365_3366del (p.Glu1122fs) rs1057518284
NM_004006.3(DMD):c.336G>A (p.Trp112Ter) rs398123936
NM_004006.3(DMD):c.3374C>A (p.Ser1125Ter) rs374744331
NM_004006.3(DMD):c.3413G>A (p.Trp1138Ter) rs886044406
NM_004006.3(DMD):c.3432+1G>A rs398123937
NM_004006.3(DMD):c.3432+3A>G rs398123938
NM_004006.3(DMD):c.3433-2_3433-1delinsCC rs1557365503
NM_004006.3(DMD):c.3497_3500del (p.Leu1166fs) rs794727421
NM_004006.3(DMD):c.3500C>G (p.Ser1167Ter) rs1569563278
NM_004006.3(DMD):c.3532G>T (p.Glu1178Ter) rs727503836
NM_004006.3(DMD):c.3535G>T (p.Glu1179Ter) rs794727422
NM_004006.3(DMD):c.355C>T (p.Gln119Ter) rs863224995
NM_004006.3(DMD):c.358-1G>A rs886044582
NM_004006.3(DMD):c.3580C>T (p.Gln1194Ter) rs398123942
NM_004006.3(DMD):c.3603+1G>T rs1209389771
NM_004006.3(DMD):c.3603+2T>A rs146071084
NM_004006.3(DMD):c.3603+2dup rs796523999
NM_004006.3(DMD):c.3639dup (p.Val1214fs) rs398123943
NM_004006.3(DMD):c.365del (p.Asn122fs) rs1557052797
NM_004006.3(DMD):c.3747G>A (p.Trp1249Ter) rs886043635
NM_004006.3(DMD):c.3747del (p.Trp1249fs) rs398123945
NM_004006.3(DMD):c.3779_3785delinsGG (p.Thr1260fs) rs398123946
NM_004006.3(DMD):c.3838A>T (p.Lys1280Ter) rs794727463
NM_004006.3(DMD):c.3885del (p.Pro1296fs) rs1557359155
NM_004006.3(DMD):c.3923C>A (p.Ser1308Ter) rs1569562466
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.3(DMD):c.4071+1G>A rs1060502643
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter) rs398123948
NM_004006.3(DMD):c.4120G>T (p.Glu1374Ter) rs1557340452
NM_004006.3(DMD):c.412_413del (p.Lys138fs) rs398123949
NM_004006.3(DMD):c.4151del (p.Glu1384fs) rs1569561687
NM_004006.3(DMD):c.415_428del (p.Ile139fs) rs794727795
NM_004006.3(DMD):c.4174C>T (p.Gln1392Ter) rs886043496
NM_004006.3(DMD):c.4290_4291del (p.His1430fs) rs1557322838
NM_004006.3(DMD):c.4295del (p.Gln1432fs) rs1557322834
NM_004006.3(DMD):c.4312C>T (p.Gln1438Ter) rs886044402
NM_004006.3(DMD):c.4315A>T (p.Arg1439Ter) rs794727550
NM_004006.3(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.3(DMD):c.434G>C (p.Arg145Pro) rs398123952
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter) rs398123953
NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter) rs398123954
NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter) rs128626248
NM_004006.3(DMD):c.4471_4472del (p.Lys1491fs) rs398123957
NM_004006.3(DMD):c.4483C>T (p.Gln1495Ter) rs748769566
NM_004006.3(DMD):c.4495C>T (p.Gln1499Ter) rs755686224
NM_004006.3(DMD):c.4518+5G>A rs398123960
NM_004006.3(DMD):c.4523del (p.Leu1508fs) rs794727567
NM_004006.3(DMD):c.4534_4535del (p.Leu1512fs) rs398123961
NM_004006.3(DMD):c.4545_4549del (p.Val1515_Lys1516insTer) rs398123962
NM_004006.3(DMD):c.4550_4556del (p.Ser1517fs) rs886043348
NM_004006.3(DMD):c.457C>T (p.Gln153Ter) rs886042983
NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter) rs1557320194
NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter) rs863224998
NM_004006.3(DMD):c.4618G>T (p.Glu1540Ter) rs1557320151
NM_004006.3(DMD):c.4675-2A>G rs794727575
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter) rs863224999
NM_004006.3(DMD):c.4786_4787del (p.Lys1596fs) rs1569560475
NM_004006.3(DMD):c.478_479insAC (p.Thr160fs) rs1557052560
NM_004006.3(DMD):c.4806A>T (p.Gly1602=) rs727503830
NM_004006.3(DMD):c.4843A>T (p.Lys1615Ter) rs398123969
NM_004006.3(DMD):c.4845+1G>T rs886044501
NM_004006.3(DMD):c.4870C>T (p.Gln1624Ter) rs762250680
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter) rs398123973
NM_004006.3(DMD):c.5032C>T (p.Gln1678Ter) rs886042154
NM_004006.3(DMD):c.5089C>T (p.Gln1697Ter) rs886042347
NM_004006.3(DMD):c.5097_5098delinsATGAATGAATTCATT (p.Asp1699_Thr1700delinsGluTer) rs398123978
NM_004006.3(DMD):c.5124_5127del (p.Lys1708fs) rs398123979
NM_004006.3(DMD):c.5139del (p.Glu1714fs) rs1557304860
NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter) rs886042747
NM_004006.3(DMD):c.522_523del (p.His174fs) rs1569528090
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.3(DMD):c.5334del (p.Pro1779fs) rs1557294341
NM_004006.3(DMD):c.5344G>T (p.Glu1782Ter) rs886044455
NM_004006.3(DMD):c.5353C>T (p.Gln1785Ter) rs398123990
NM_004006.3(DMD):c.5360dup (p.Asn1787fs) rs1557294296
NM_004006.3(DMD):c.5363C>G (p.Ser1788Ter) rs199774535
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter) rs1569559204
NM_004006.3(DMD):c.5390_5411del (p.Leu1797fs) rs1569559198
NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter) rs1557294228
NM_004006.3(DMD):c.5455_5459dup (p.Asn1820fs) rs1569559110
NM_004006.3(DMD):c.547dup (p.Trp183fs) rs796065333
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) rs1064325
NM_004006.3(DMD):c.5548_5552del (p.Lys1850fs) rs1557292678
NM_004006.3(DMD):c.5554C>T (p.Gln1852Ter) rs398123991
NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter) rs1569559097
NM_004006.3(DMD):c.5595del (p.Arg1865fs) rs1557291242
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs) rs863225003
NM_004006.3(DMD):c.5640T>A (p.Tyr1880Ter) rs398123993
NM_004006.3(DMD):c.565C>T (p.Gln189Ter) rs794727861
NM_004006.3(DMD):c.5680del (p.Asp1894fs) rs1569558964
NM_004006.3(DMD):c.5697del (p.Lys1899fs) rs794727661
NM_004006.3(DMD):c.5697dup (p.Leu1900fs) rs794727661
NM_004006.3(DMD):c.5713G>T (p.Glu1905Ter) rs1557291003
NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs) rs1569558953
NM_004006.3(DMD):c.572C>G (p.Ser191Ter) rs794727863
NM_004006.3(DMD):c.5800G>T (p.Glu1934Ter) rs1557290355
NM_004006.3(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.3(DMD):c.5867G>A (p.Trp1956Ter) rs1569558906
NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter) rs794727666
NM_004006.3(DMD):c.5881_5882del (p.Ser1961fs) rs886044193
NM_004006.3(DMD):c.5910del (p.Phe1971fs) rs1557290181
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter) rs863225005
NM_004006.3(DMD):c.5938G>T (p.Glu1980Ter) rs398124001
NM_004006.3(DMD):c.595_598dup (p.Phe200fs) rs1557047875
NM_004006.3(DMD):c.5972del (p.Leu1991fs) rs1569556948
NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter) rs398124002
NM_004006.3(DMD):c.6025C>T (p.Gln2009Ter) rs1569556943
NM_004006.3(DMD):c.6025_6026del (p.Gln2009fs) rs1557272125
NM_004006.3(DMD):c.6072T>A (p.Cys2024Ter) rs373804251
NM_004006.3(DMD):c.615T>A (p.Tyr205Ter) rs398124004
NM_004006.3(DMD):c.6182del (p.Ala2061fs) rs398124005
NM_004006.3(DMD):c.6223C>T (p.Gln2075Ter) rs886043428
NM_004006.3(DMD):c.6238del (p.Gln2080fs) rs794727672
NM_004006.3(DMD):c.627del (p.Ile209fs) rs794727862
NM_004006.3(DMD):c.6373C>T (p.Gln2125Ter) rs128626251
NM_004006.3(DMD):c.6391_6392del (p.Gln2131fs) rs398124012
NM_004006.3(DMD):c.6391_6392dup (p.Gln2131fs) rs398124012
NM_004006.3(DMD):c.6393_6394insCA (p.Ile2132fs) rs886043157
NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter) rs1425702864
NM_004006.3(DMD):c.6423del (p.Lys2140_Tyr2141insTer) rs1557218093
NM_004006.3(DMD):c.6472_6473del (p.Val2158fs) rs1557038198
NM_004006.3(DMD):c.649+1G>A rs398124032
NM_004006.3(DMD):c.649+1G>T rs398124032
NM_004006.3(DMD):c.649+5G>T rs1557047808
NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter) rs1557038061
NM_004006.3(DMD):c.6580G>T (p.Glu2194Ter) rs1304218104
NM_004006.3(DMD):c.6611dup (p.Arg2205fs) rs863225007
NM_004006.3(DMD):c.6649C>T (p.Gln2217Ter) rs1569516166
NM_004006.3(DMD):c.6651_6652del (p.Asp2219fs) rs1557011929
NM_004006.3(DMD):c.6665_6668del (p.Glu2222fs) rs1557011872
NM_004006.3(DMD):c.6670_6673dup (p.Leu2225fs) rs797044743
NM_004006.3(DMD):c.673AAG[1] (p.Lys226del) rs398124034
NM_004006.3(DMD):c.6804_6807del (p.Lys2268fs) rs886044490
NM_004006.3(DMD):c.6906G>A (p.Trp2302Ter) rs398124036
NM_004006.3(DMD):c.6982A>T (p.Lys2328Ter) rs754896795
NM_004006.3(DMD):c.6986del (p.Lys2329fs) rs398124040
NM_004006.3(DMD):c.7052_7053del (p.Gln2350_Leu2351insTer) rs1556962326
NM_004006.3(DMD):c.7105G>T (p.Glu2369Ter) rs863225008
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter) rs1556930579
NM_004006.3(DMD):c.7170C>G (p.Tyr2390Ter) rs770183212
NM_004006.3(DMD):c.7189C>T (p.Gln2397Ter) rs398124042
NM_004006.3(DMD):c.7247dup (p.Leu2416fs) rs797044764
NM_004006.3(DMD):c.7252C>T (p.Gln2418Ter) rs1569451994
NM_004006.3(DMD):c.7268del (p.Lys2423fs) rs1556917057
NM_004006.3(DMD):c.7295_7296del (p.Thr2432fs) rs794727746
NM_004006.3(DMD):c.7309+1G>A rs398124044
NM_004006.3(DMD):c.7444del (p.Thr2483fs) rs794727749
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter) rs398124050
NM_004006.3(DMD):c.7661-1G>C rs1556806346
NM_004006.3(DMD):c.7682G>A (p.Trp2561Ter) rs398124052
NM_004006.3(DMD):c.7683G>A (p.Trp2561Ter) rs398124053
NM_004006.3(DMD):c.776_777del (p.Lys259fs) rs1569469138
NM_004006.3(DMD):c.7771G>T (p.Glu2591Ter) rs398124055
NM_004006.3(DMD):c.7894C>T (p.Gln2632Ter) rs398124058
NM_004006.3(DMD):c.7922del (p.Asn2641fs) rs398124059
NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter) rs1569186252
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter) rs863225011
NM_004006.3(DMD):c.8061del (p.His2688fs) rs1569140330
NM_004006.3(DMD):c.8064_8065del (p.His2688fs) rs398124060
NM_004006.3(DMD):c.8066_8070del (p.Arg2689fs) rs1556764934
NM_004006.3(DMD):c.8069T>G (p.Leu2690Ter) rs398124061
NM_004006.3(DMD):c.8105_8111dup (p.Trp2704fs) rs886042373
NM_004006.3(DMD):c.8184del (p.Lys2729fs) rs794727763
NM_004006.3(DMD):c.8263del (p.Leu2755fs) rs1556669914
NM_004006.3(DMD):c.831+1G>T rs1239018406
NM_004006.3(DMD):c.8374_8375del (p.Lys2792fs) rs398124070
NM_004006.3(DMD):c.8390+1G>A rs1064794569
NM_004006.3(DMD):c.8390+1G>C rs1064794569
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter) rs398124074
NM_004006.3(DMD):c.8647A>T (p.Lys2883Ter) rs1556656767
NM_004006.3(DMD):c.8652_8653del (p.Tyr2885fs) rs398124075
NM_004006.3(DMD):c.8656C>T (p.Gln2886Ter) rs201361100
NM_004006.3(DMD):c.8669-1G>C rs886044324
NM_004006.3(DMD):c.8669-2A>C rs794727770
NM_004006.3(DMD):c.8680G>T (p.Glu2894Ter) rs727503802
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004006.3(DMD):c.8775G>A (p.Trp2925Ter) rs868688877
NM_004006.3(DMD):c.883C>T (p.Arg295Ter) rs727503864
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter) rs1556656184
NM_004006.3(DMD):c.8912_8913del (p.Leu2971fs) rs398124078
NM_004006.3(DMD):c.8937+1G>T rs1556656077
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter) rs128625229
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter) rs1569530432
NM_004006.3(DMD):c.9125del (p.His3042fs) rs398124080
NM_004006.3(DMD):c.9158_9161del (p.Leu3053fs) rs398124081
NM_004006.3(DMD):c.9164-1G>C rs398124082
NM_004006.3(DMD):c.9216C>G (p.Tyr3072Ter) rs794727820
NM_004006.3(DMD):c.9225-285A>G rs587776747
NM_004006.3(DMD):c.9225-647A>G rs398124091
NM_004006.3(DMD):c.93+1G>A rs886042604
NM_004006.3(DMD):c.93+1_93+5del rs886044495
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter) rs398124092
NM_004006.3(DMD):c.9361+1G>A rs398124094
NM_004006.3(DMD):c.9361+1G>C rs398124094
NM_004006.3(DMD):c.9563+1G>A rs886043989
NM_004006.3(DMD):c.9564-1G>A rs398124096
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.3(DMD):c.961-5831C>T rs398124099
NM_004006.3(DMD):c.9650-2A>G rs398124100
NM_004006.3(DMD):c.9727C>T (p.Gln3243Ter) rs1569460722
NM_004006.3(DMD):c.9767dup (p.Ser3257fs) rs398124103
NM_004006.3(DMD):c.9807+1G>T rs1569460610
NM_004006.3(DMD):c.9862G>T (p.Glu3288Ter) rs398124106
NM_004006.3(DMD):c.9975-2A>C rs886044502
NM_004006.3(DMD):c.9978C>G (p.Tyr3326Ter) rs794727832
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004187.5(KDM5C):c.3126_3128delinsCAGG (p.Asp1043fs) rs797044682
NM_004187.5(KDM5C):c.351+1G>T rs797044706
NM_004187.5(KDM5C):c.410_411dup (p.Ala138Ter) rs1057515581
NM_004187.5(KDM5C):c.486T>A (p.Tyr162Ter) rs797044731
NM_004260.4(RECQL4):c.1568del (p.Ser523fs) rs886043102
NM_004260.4(RECQL4):c.1704+1G>A rs760363252
NM_004260.4(RECQL4):c.2752G>T (p.Glu918Ter) rs762028333
NM_004260.4(RECQL4):c.3025C>T (p.Gln1009Ter) rs1564790457
NM_004260.4(RECQL4):c.82C>T (p.Gln28Ter) rs794726912
NM_004320.6(ATP2A1):c.2595del (p.Asn866fs) rs398124554
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) rs121913364
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004369.4(COL6A3):c.2985_2988del (p.Ala996fs) rs1559253935
NM_004369.4(COL6A3):c.4124del (p.Gln1375fs) rs886042447
NM_004369.4(COL6A3):c.4835C>A (p.Ser1612Ter) rs201532239
NM_004369.4(COL6A3):c.5010T>A (p.Tyr1670Ter) rs886042402
NM_004369.4(COL6A3):c.5838+1G>T rs1559234260
NM_004369.4(COL6A3):c.6064-2A>G rs1553554384
NM_004369.4(COL6A3):c.6157-2A>C rs886041434
NM_004369.4(COL6A3):c.6157G>T (p.Gly2053Cys) rs1559228507
NM_004369.4(COL6A3):c.6175G>T (p.Gly2059Cys) rs758124326
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser) rs886044252
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp) rs1553553646
NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp) rs794727188
NM_004369.4(COL6A3):c.6282+1G>A rs398124128
NM_004369.4(COL6A3):c.6293G>T (p.Gly2098Val) rs794727206
NM_004369.4(COL6A3):c.6310-28_6325del rs1553553267
NM_004369.4(COL6A3):c.6354+1G>A rs886042883
NM_004369.4(COL6A3):c.6354+1G>T rs886042883
NM_004369.4(COL6A3):c.7024C>T (p.Arg2342Ter) rs886043113
NM_004369.4(COL6A3):c.7542del (p.Phe2515fs) rs886043519
NM_004369.4(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_004369.4(COL6A3):c.7796_7797del (p.Phe2599fs) rs886042623
NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter) rs886043992
NM_004380.3(CREBBP):c.1669del (p.Ala557fs) rs398124139
NM_004380.3(CREBBP):c.2685del (p.Gln897fs) rs794727124
NM_004380.3(CREBBP):c.3337C>T (p.Gln1113Ter) rs398124144
NM_004380.3(CREBBP):c.3982+1G>A rs398124145
NM_004380.3(CREBBP):c.3993del (p.Thr1332fs) rs794727391
NM_004380.3(CREBBP):c.4509C>G (p.Tyr1503Ter) rs1555473105
NM_004380.3(CREBBP):c.886dup (p.Gln296fs) rs1567331357
NM_004380.3(CREBBP):c.910del (p.Val304fs) rs398124150
NM_004387.4(NKX2-5):c.685_686dup (p.Cys230fs) rs797044675
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs) rs727503919
NM_004453.4(ETFDH):c.1823del (p.Gly608fs) rs398124153
NM_004463.3(FGD1):c.1287T>G (p.Tyr429Ter) rs398124155
NM_004463.3(FGD1):c.1468C>T (p.Gln490Ter) rs398124156
NM_004463.3(FGD1):c.175C>T (p.Gln59Ter) rs398124160
NM_004463.3(FGD1):c.2016-2A>G rs794727099
NM_004463.3(FGD1):c.2112_2113insTT (p.Asn705fs) rs398124161
NM_004463.3(FGD1):c.2135dup (p.Pro713fs) rs398124162
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004463.3(FGD1):c.577C>T (p.Arg193Ter) rs1557189664
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004493.3(HSD17B10):c.677G>A (p.Arg226Gln) rs1556894502
NM_004530.6(MMP2):c.1287del (p.Asn430fs) rs794727916
NM_004530.6(MMP2):c.265del (p.Asp90fs) rs794727275
NM_004530.6(MMP2):c.732C>A (p.Tyr244Ter) rs121912954
NM_004560.4(ROR2):c.2130_2151dup (p.Pro718delinsAlaAlaLeuProArgTer) rs886042428
NM_004586.3(RPS6KA3):c.1539_1542del (p.Glu515fs) rs886043293
NM_004586.3(RPS6KA3):c.185del (p.Lys62fs) rs398124175
NM_004586.3(RPS6KA3):c.632-1G>A rs398124177
NM_004586.3(RPS6KA3):c.632-1G>C rs398124177
NM_004586.3(RPS6KA3):c.718_721del (p.Val240fs) rs398124178
NM_004589.4(SCO1):c.364_364+1del rs587776629
NM_004646.4(NPHS1):c.2847_2853del (p.Val949_Val950insTer) rs886042517
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241
NM_004722.4(AP4M1):c.737del (p.Pro246fs) rs1191415115
NM_004744.5(LRAT):c.588dup (p.Ala197fs) rs398124185
NM_004782.4(SNAP29):c.487dup (p.Ser163fs) rs387907363
NM_004817.4(TJP2):c.1451del (p.Pro484fs) rs1554662952
NM_004817.4(TJP2):c.1697T>A (p.Leu566Ter) rs886042381
NM_004817.4(TJP2):c.1780+1G>T rs1554664852
NM_004817.4(TJP2):c.1992-2A>G rs587777521
NM_004817.4(TJP2):c.2353C>T (p.Gln785Ter) rs1563948951
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter) rs746830415
NM_004817.4(TJP2):c.498dup (p.Arg167fs) rs781334233
NM_004817.4(TJP2):c.766_769del (p.Ala256fs) rs587777518
NM_004817.4(TJP2):c.782del (p.Tyr261fs) rs771690686
NM_004817.4(TJP2):c.817del (p.Ala273fs) rs864321697
NM_004817.4(TJP2):c.84dup (p.Trp29fs) rs1563915664
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_005199.5(CHRNG):c.117dup (p.Asn40fs) rs797044677
NM_005216.5(DDOST):c.1214_1235del (p.Ile405fs) rs587776874
NM_005216.5(DDOST):c.599G>A (p.Gly200Asp) rs387906831
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) rs876657776
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.648_655del (p.Tyr217fs) rs727503934
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.326delinsAAATATGAAC (p.Leu109delinsGlnIleTer) rs727504151
NM_005378.6(MYCN):c.817G>T (p.Glu273Ter) rs886042150
NM_005422.4(TECTA):c.1774+1G>T rs372925383
NM_005422.4(TECTA):c.1893C>A (p.Cys631Ter) rs1555123909
NM_005422.4(TECTA):c.730_737del (p.Arg244fs) rs1565518246
NM_005461.5(MAFB):c.161C>T (p.Ser54Leu) rs730880014
NM_005476.7(GNE):c.1633_1633+3del rs1554658877
NM_005476.7(GNE):c.164+1G>A rs1554664043
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs) rs1436850036
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter) rs886042195
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.38G>C (p.Cys13Ser) rs1209266607
NM_005476.7(GNE):c.470_471del (p.His157fs) rs1554663368
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.601_604dup (p.Arg202fs) rs886042120
NM_005476.7(GNE):c.616+1del rs1554663295
NM_005476.7(GNE):c.617-2A>G rs1554661582
NM_005559.4(LAMA1):c.505C>T (p.Arg169Ter) rs752872595
NM_005591.4(MRE11):c.845+2T>A rs587781381
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.501dup (p.Asn168Ter) rs1555136390
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005677.4(COLQ):c.1082del (p.Pro361fs) rs769982050
NM_005677.4(COLQ):c.529-2A>G rs755236236
NM_005857.5(ZMPSTE24):c.1263dup (p.Ala422fs) rs281875375
NM_005857.5(ZMPSTE24):c.818del (p.Lys273fs) rs886044057
NM_005859.5(PURA):c.367C>T (p.Gln123Ter) rs886042229
NM_005859.5(PURA):c.677_678del (p.Val226fs) rs1064796830
NM_005902.4(SMAD3):c.769del (p.Val257fs) rs1555413562
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) rs794727798
NM_006005.3(WFS1):c.1060_1062del (p.Phe354del) rs876657735
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006012.4(CLPP):c.367+2T>C rs909909437
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1234del (p.Tyr412fs) rs1460604134
NM_006019.4(TCIRG1):c.292C>T (p.Gln98Ter) rs1554995115
NM_006019.4(TCIRG1):c.703dup (p.Ile235fs) rs1554995715
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) rs587784302
NM_006031.6(PCNT):c.3757G>T (p.Glu1253Ter) rs1555973872
NM_006208.3(ENPP1):c.288del (p.Gly96_Leu97insTer) rs1554278189
NM_006214.4(PHYH):c.235C>T (p.Gln79Ter) rs1554785113
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2700dup (p.Pro901fs) rs797044735
NM_006269.2(RP1):c.2745delinsAA (p.Tyr915Ter) rs1554519662
NM_006269.2(RP1):c.3734del (p.Cys1245fs) rs1563331742
NM_006269.2(RP1):c.4555del (p.Arg1519fs) rs794727640
NM_006269.2(RP1):c.5017del (p.Tyr1673fs) rs753090404
NM_006269.2(RP1):c.5019T>G (p.Tyr1673Ter) rs398124220
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006412.4(AGPAT2):c.282del (p.Ile94fs) rs886043265
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.924_925del (p.Leu309fs) rs386833964
NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter) rs75485205
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.680-11G>A rs1259158687
NM_006516.4(SLC2A1):c.907dup (p.Val303fs) rs80359837
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.966_967del (p.Ser324fs) rs886044287
NM_006516.4(SLC2A1):c.980_981del (p.Val327fs) rs80359838
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006517.5(SLC16A2):c.326G>A (p.Trp109Ter) rs794726932
NM_006517.5(SLC16A2):c.327G>A (p.Trp109Ter) rs1569281190
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter) rs1555989364
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.46C>T (p.Gln16Ter) rs1569280986
NM_006517.5(SLC16A2):c.576-1G>A rs886042238
NM_006642.5(SDCCAG8):c.1159del (p.Ala387fs) rs778900414
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs) rs587777847
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) rs121908458
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006915.3(RP2):c.352del (p.Arg118fs) rs797044507
NM_006915.3(RP2):c.593_594del (p.Tyr198fs) rs886044897
NM_006915.3(RP2):c.631del (p.Arg211fs) rs398124239
NM_006941.4(SOX10):c.604_605del (p.Ala202fs) rs1569169199
NM_006950.3(SYN1):c.377G>A (p.Trp126Ter) rs886042481
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_007126.5(VCP):c.277C>T (p.Arg93Cys) rs1554669087
NM_007126.5(VCP):c.463C>T (p.Arg155Cys) rs121909330
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007214.5(SEC63):c.109del (p.Arg37fs) rs727504146
NM_007214.5(SEC63):c.1605dup (p.Pro536fs) rs752868449
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer) rs797044631
NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter) rs80357207
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs) rs80357623
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007315.4(STAT1):c.88del (p.Ile30fs) rs886043118
NM_012144.4(DNAI1):c.2001+1G>A rs397515563
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs) rs1564217246
NM_012210.4(TRIM32):c.509T>A (p.Leu170Ter) rs886044692
NM_012210.4(TRIM32):c.918dup (p.Trp307fs) rs1554733019
NM_012213.3(MLYCD):c.680_685dup (p.Lys228_Arg229insLeuLys) rs398124254
NM_012233.3(RAB3GAP1):c.2343_2347del (p.Pro782fs) rs794727324
NM_012233.3(RAB3GAP1):c.612del (p.Leu205fs) rs886043201
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157
NM_012463.4(ATP6V0A2):c.304C>T (p.Gln102Ter) rs794727643
NM_012463.4(ATP6V0A2):c.825+2T>C rs398124257
NM_013296.5(GPSM2):c.485del (p.Pro162fs) rs766556930
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_013328.4(PYCR2):c.757_758dup (p.Leu254fs) rs886043378
NM_013382.7(POMT2):c.1045_1052delinsG (p.Arg349fs) rs886042094
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs) rs886042401
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.1726-2A>G rs727503873
NM_013382.7(POMT2):c.672del (p.Trp225fs) rs1566656247
NM_013382.7(POMT2):c.924-2A>G rs886044256
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs) rs794727287
NM_014112.4(TRPS1):c.1766dup (p.His590Alafs) rs1554596004
NM_014112.5(TRPS1):c.1175_1176del (p.Asn391_Ser392insTer) rs1563638218
NM_014112.5(TRPS1):c.3319del (p.Leu1107fs) rs886042507
NM_014251.3(SLC25A13):c.1631del (p.Ile544fs) rs1562774778
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014254.3(RXYLT1):c.641del (p.Phe214fs) rs1354951198
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) rs1555250082
NM_014363.6(SACS):c.12028C>T (p.Gln4010Ter) rs148297332
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014384.3(ACAD8):c.447_448dup (p.Cys150fs) rs398124269
NM_014425.5(INVS):c.1464+1G>T rs375753623
NM_014425.5(INVS):c.2097_2098del (p.Gln699fs) rs1564193130
NM_014425.5(INVS):c.2509C>T (p.Gln837Ter) rs755549444
NM_014425.5(INVS):c.662dup (p.Arg222fs) rs769739938
NM_014491.4(FOXP2):c.678dup (p.Leu227fs) rs786200976
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_014639.4(SKIC3):c.2808G>A (p.Trp936Ter) rs534237033
NM_014714.4(IFT140):c.3991C>T (p.Gln1331Ter) rs794727473
NM_014780.5(CUL7):c.2112G>A (p.Trp704Ter) rs1554138577
NM_014780.5(CUL7):c.2559del (p.Ser854fs) rs1554137913
NM_014780.5(CUL7):c.2787del (p.Ser930fs) rs886043872
NM_014780.5(CUL7):c.2848A>T (p.Lys950Ter) rs886044397
NM_014780.5(CUL7):c.898_919del (p.Met300fs) rs794727644
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1102C>T (p.Gln368Ter) rs886041338
NM_014795.4(ZEB2):c.1218del (p.His407fs) rs727504226
NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter) rs398124274
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1541dup (p.Val515fs) rs398124275
NM_014795.4(ZEB2):c.1586del (p.Thr529fs) rs398124276
NM_014795.4(ZEB2):c.1806C>G (p.Tyr602Ter) rs1553961660
NM_014795.4(ZEB2):c.1876G>T (p.Gly626Ter) rs727504224
NM_014795.4(ZEB2):c.2032del (p.Ser678fs) rs398124277
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2174_2177dup (p.Leu728fs) rs398124278
NM_014795.4(ZEB2):c.2701C>T (p.Gln901Ter) rs794727924
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.280G>T (p.Glu94Ter) rs727504228
NM_014795.4(ZEB2):c.2986_2987del (p.Ser996fs) rs1553961343
NM_014795.4(ZEB2):c.304dup (p.Ile102fs) rs786200997
NM_014795.4(ZEB2):c.3359_3364delinsTAATG (p.Gly1120fs) rs398124280
NM_014795.4(ZEB2):c.3533del (p.Thr1178fs) rs727504223
NM_014795.4(ZEB2):c.643_659del (p.Tyr215fs) rs398124281
NM_014795.4(ZEB2):c.73+2T>C rs398124282
NM_014795.4(ZEB2):c.782_783del (p.Val261fs) rs398124283
NM_014795.4(ZEB2):c.789_790del (p.His263fs) rs1553962048
NM_014795.4(ZEB2):c.805C>T (p.Gln269Ter) rs398124284
NM_014795.4(ZEB2):c.930C>A (p.Tyr310Ter) rs6711223
NM_014795.4(ZEB2):c.980C>A (p.Ser327Ter) rs756686919
NM_014804.3(KIAA0753):c.1323T>A (p.Tyr441Ter) rs780010794
NM_014844.5(TECPR2):c.242_243del (p.Val81fs) rs886043167
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val) rs794727035
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro) rs28940293
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014908.3(DOLK):c.1447C>A (p.Gln483Lys) rs727503904
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015100.4(POGZ):c.1048dup (p.Arg350fs) rs1557909170
NM_015100.4(POGZ):c.2817_2830del (p.Cys939_Asp944delinsTer) rs1553212757
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs) rs1553200990
NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs) rs398124289
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs) rs762371581
NM_015102.5(NPHP4):c.3618del (p.Asp1208fs) rs1557588167
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015295.2(SMCHD1):c.2142dup (p.Ile715Tyrfs) rs1555635144
NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter) rs377471712
NM_015295.3(SMCHD1):c.120del (p.Asp42fs) rs1555622310
NM_015295.3(SMCHD1):c.1672_1673del (p.Glu558fs) rs1568183325
NM_015295.3(SMCHD1):c.1843-1G>A rs886043146
NM_015295.3(SMCHD1):c.1872_1873del (p.Phe624fs) rs1568188407
NM_015295.3(SMCHD1):c.3197del (p.Met1066fs) rs1568261067
NM_015295.3(SMCHD1):c.3238_3239del (p.Glu1080fs) rs886043182
NM_015295.3(SMCHD1):c.3276_3276+4del rs1555642277
NM_015295.3(SMCHD1):c.3801+1G>A rs886042417
NM_015295.3(SMCHD1):c.424+1G>A rs1555625396
NM_015295.3(SMCHD1):c.4733_4736dup (p.Glu1579fs) rs1555651730
NM_015295.3(SMCHD1):c.4799dup (p.Leu1600fs) rs867598503
NM_015295.3(SMCHD1):c.4898T>G (p.Leu1633Ter) rs886044419
NM_015295.3(SMCHD1):c.5020del (p.Ile1674fs) rs886044129
NM_015295.3(SMCHD1):c.5547+1G>C rs1555654127
NM_015311.3(OBSL1):c.1997_2049del (p.Gly666fs) rs1553537027
NM_015335.5(MED13L):c.5285del (p.Leu1762fs) rs886043314
NM_015346.4(ZFYVE26):c.3373del (p.His1125fs) rs878855011
NM_015346.4(ZFYVE26):c.4455del (p.Trp1485fs) rs1566881181
NM_015346.4(ZFYVE26):c.5485-1del rs878855013
NM_015404.4(WHRN):c.1417-1G>A rs779760634
NM_015506.3(MMACHC):c.547_548del (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015629.4(PRPF31):c.1073+1G>A rs794727001
NM_015629.4(PRPF31):c.1273C>T (p.Gln425Ter) rs727504107
NM_015629.4(PRPF31):c.615C>A (p.Tyr205Ter) rs144738703
NM_015629.4(PRPF31):c.973G>T (p.Glu325Ter) rs1555794201
NM_015665.6(AAAS):c.1332-2A>T rs1565776390
NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His) rs122468178
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer) rs1160669103
NM_016180.5(SLC45A2):c.1152T>G (p.Tyr384Ter) rs886042344
NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter) rs116887602
NM_016180.5(SLC45A2):c.856C>T (p.Gln286Ter) rs794727511
NM_016180.5(SLC45A2):c.986del (p.Thr329fs) rs387906317
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.2258_2259del (p.Ala753fs) rs1555539322
NM_016239.4(MYO15A):c.6178-1G>A rs886044338
NM_016247.4(IMPG2):c.1818dup (p.Gln607fs) rs1553681434
NM_016356.5(DCDC2):c.293dup (p.Asn98fs) rs1561787158
NM_016356.5(DCDC2):c.294-2A>G rs1554121105
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter) rs904520404
NM_016356.5(DCDC2):c.529dup (p.Ile177fs) rs904944428
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_016373.4(WWOX):c.255C>G (p.Tyr85Ter) rs990150249
NM_016729.3(FOLR1):c.34del (p.Leu12fs) rs1555068629
NM_017433.5(MYO3A):c.3447_3448del (p.Arg1150fs) rs764507216
NM_017668.3(NDE1):c.704-1G>A rs398123577
NM_017671.5(FERMT1):c.787C>T (p.Gln263Ter) rs121918292
NM_017739.4(POMGNT1):c.477dup (p.Met160fs) rs1553163920
NM_017739.4(POMGNT1):c.92dup (p.Asn31fs) rs398124310
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017777.4(MKS1):c.1249del (p.Ala417fs) rs1567796331
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter) rs727503860
NM_017780.4(CHD7):c.1224_1234del (p.Pro409fs) rs794727295
NM_017780.4(CHD7):c.1369C>T (p.Gln457Ter) rs727503861
NM_017780.4(CHD7):c.1465C>T (p.Gln489Ter) rs794727298
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) rs200220845
NM_017780.4(CHD7):c.2848del (p.Ala950fs) rs886043750
NM_017780.4(CHD7):c.2933G>A (p.Trp978Ter) rs727503863
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.380del (p.Pro127fs) rs886043945
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs) rs398124319
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4793C>G (p.Ser1598Ter) rs1563649180
NM_017780.4(CHD7):c.5181C>G (p.Tyr1727Ter) rs398124320
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5895-1G>C rs398124322
NM_017780.4(CHD7):c.5971C>T (p.Gln1991Ter) rs1563659730
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) rs886040996
NM_017780.4(CHD7):c.6529G>T (p.Glu2177Ter) rs750047137
NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter) rs794727569
NM_017780.4(CHD7):c.7145dup (p.Ser2383fs) rs786200969
NM_017780.4(CHD7):c.7641_7651del (p.Glu2547fs) rs886042312
NM_017780.4(CHD7):c.8453_8463dup (p.Ala2822fs) rs797044725
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017950.4(CCDC40):c.1440+1G>C rs886042621
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter) rs374909386
NM_018006.5(TRMU):c.333dup (p.His112fs) rs756600903
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018122.5(DARS2):c.223C>T (p.Arg75Ter) rs1557852998
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.8829G>A (p.Trp2943Ter) rs886043249
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_018297.4(NGLY1):c.1891del (p.Gln631fs) rs587776982
NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter) rs398124345
NM_018418.5(SPATA7):c.115_119del (p.Ser39fs) rs1555370458
NM_018451.5(CENPJ):c.1681_1684del (p.Leu561fs) rs886043932
NM_018668.5(VPS33B):c.1479+1G>A rs1555458189
NM_018668.5(VPS33B):c.1616del (p.Glu539fs) rs886043445
NM_018713.3(SLC30A10):c.585del (p.Thr196fs) rs281860288
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019109.5(ALG1):c.115del (p.Val39fs) rs886042130
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter) rs752922461
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1905del (p.Lys635fs) rs727504001
NM_020166.5(MCCC1):c.205A>T (p.Lys69Ter) rs147741073
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020247.5(COQ8A):c.638_645del (p.Arg213fs) rs886042265
NM_020436.5(SALL4):c.1311_1321del (p.Asn438fs) rs1555850609
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs) rs797044621
NM_020451.3(SELENON):c.301+1G>T rs398124360
NM_020451.3(SELENON):c.44_72dup (p.Arg25fs) rs797044620
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.872+2T>C rs794727808
NM_020458.4(TTC7A):c.1183dup (p.Gln395fs) rs886042806
NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter) rs886042805
NM_020549.5(CHAT):c.418C>T (p.Gln140Ter) rs794727516
NM_020549.5(CHAT):c.85A>T (p.Arg29Ter) rs772025588
NM_020745.4(AARS2):c.647dup (p.Cys218fs) rs587777589
NM_020751.3(COG6):c.1075-1G>T rs781641023
NM_020751.3(COG6):c.112A>T (p.Lys38Ter) rs794726950
NM_020779.4(WDR35):c.2998G>T (p.Glu1000Ter) rs886043316
NM_020812.4(DOCK6):c.4194_4197dup (p.Val1400fs) rs1555688690
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020944.3(GBA2):c.1153G>T (p.Gly385Ter) rs756503362
NM_020964.3(EPG5):c.1497+1G>T rs886043244
NM_020964.3(EPG5):c.6608_6609insTCAG (p.Lys2205fs) rs1568103027
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2418C>G (p.Tyr806Ter) rs553418132
NM_020975.6(RET):c.2586_2592del (p.Met862fs) rs794727130
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021120.4(DLG3):c.2280T>G (p.Tyr760Ter) rs727503900
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021728.4(OTX2):c.534C>A (p.Cys178Ter) rs886043793
NM_022081.6(HPS4):c.446dup (p.Asn149fs) rs1555907536
NM_022124.6(CDH23):c.3221-2A>G rs1564749141
NM_022124.6(CDH23):c.4209+1G>T rs727503841
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter) rs763293192
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter) rs147903984
NM_022132.5(MCCC2):c.380C>G (p.Ser127Ter) rs398124372
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter) rs140468248
NM_022356.4(P3H1):c.1346-1G>C rs886042897
NM_022369.4(STRA6):c.1385del (p.Asn462fs) rs794727153
NM_022369.4(STRA6):c.910_911delinsAA (p.Gly304Lys) rs151341424
NM_022436.3(ABCG5):c.1492C>T (p.Arg498Ter) rs760929179
NM_022436.3(ABCG5):c.403-1G>A rs1158082114
NM_022436.3(ABCG5):c.403-2A>G rs1553372935
NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter) rs1000291485
NM_022437.3(ABCG8):c.547del (p.Gln183fs) rs387906323
NM_022437.3(ABCG8):c.647_657dup (p.Arg220fs) rs1456237152
NM_022437.3(ABCG8):c.72_73delinsC (p.Gln24fs) rs1558796310
NM_022437.3(ABCG8):c.965-1G>C rs957176669
NM_022455.5(NSD1):c.2349del (p.Lys783fs) rs398124374
NM_022455.5(NSD1):c.2915del (p.Thr972fs) rs1554189879
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.5(NSD1):c.3382dup (p.Ser1128fs) rs886043780
NM_022455.5(NSD1):c.4058_4061del (p.Glu1353fs) rs1554195857
NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs) rs794727930
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs) rs398124379
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.5(NSD1):c.6152-1G>A rs886044326
NM_022455.5(NSD1):c.6440dup (p.Asn2148fs) rs886042725
NM_022455.5(NSD1):c.6463+1G>A rs398124381
NM_022455.5(NSD1):c.6538_6539insC (p.Ser2180fs) rs398124383
NM_022464.5(SIL1):c.1205del (p.Gly402fs) rs886043087
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter) rs119456966
NM_023067.4(FOXL2):c.804dup (p.Gly269fs) rs797044528
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter) rs200888240
NM_024301.5(FKRP):c.1141del (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1256_1257del (p.Pro419fs) rs886043959
NM_024301.5(FKRP):c.1267del (p.Arg423fs) rs886044083
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.1A>G (p.Met1Val) rs587777223
NM_024301.5(FKRP):c.675del (p.Thr226fs) rs886043706
NM_024301.5(FKRP):c.740del (p.Pro247fs) rs1568418845
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter) rs752731569
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) rs886044183
NM_024312.5(GNPTAB):c.1036_1037del (p.Ile346fs) rs398124396
NM_024312.5(GNPTAB):c.1298G>A (p.Trp433Ter) rs398124397
NM_024312.5(GNPTAB):c.157_160del (p.Phe53fs) rs794727302
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.3326dup (p.Asn1109fs) rs797044663
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3560_3561del (p.Glu1187fs) rs781689303
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.732_733del (p.Lys244fs) rs398124400
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) rs281864964
NM_024408.4(NOTCH2):c.1021dup (p.Asp341fs) rs1553200134
NM_024408.4(NOTCH2):c.1835dup (p.Tyr612Ter) rs1553199298
NM_024408.4(NOTCH2):c.3246dup (p.Ala1083fs) rs1553195973
NM_024408.4(NOTCH2):c.3415dup (p.Leu1139fs) rs1557812162
NM_024408.4(NOTCH2):c.4005+1G>A rs1557807153
NM_024408.4(NOTCH2):c.5274G>A (p.Trp1758Ter) rs1553194093
NM_024408.4(NOTCH2):c.5664dup (p.Arg1889fs) rs927740391
NM_024408.4(NOTCH2):c.5843del (p.Leu1948fs) rs1557803353
NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter) rs312262801
NM_024529.5(CDC73):c.237+1G>T rs794727303
NM_024592.5(SRD5A3):c.364G>T (p.Gly122Ter) rs1487808056
NM_024649.5(BBS1):c.887del (p.Ile296fs) rs794727006
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs) rs886043841
NM_024685.4(BBS10):c.197+1G>T rs886042729
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024747.6(HPS6):c.1864_1871del (p.Leu622fs) rs1564899951
NM_024747.6(HPS6):c.283del (p.Val95fs) rs1564899012
NM_024757.5(EHMT1):c.1349_1352del (p.Lys450fs) rs886042181
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025074.7(FRAS1):c.1931del (p.Gly644fs) rs794727195
NM_025074.7(FRAS1):c.3370dup (p.Ser1124fs) rs797044696
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025099.6(CTC1):c.1245del (p.Thr416fs) rs1567609103
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs) rs886043303
NM_025114.4(CEP290):c.1665_1666del (p.Lys555fs) rs727503855
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs) rs766608755
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2668C>T (p.Gln890Ter) rs886044332
NM_025114.4(CEP290):c.2911G>T (p.Glu971Ter) rs780805963
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.7062_7063del (p.Lys2355fs) rs886042734
NM_025137.4(SPG11):c.4371G>A (p.Trp1457Ter) rs886819382
NM_025137.4(SPG11):c.6451del (p.Ala2151fs) rs312262779
NM_025193.4(HSD3B7):c.196del (p.Asp66fs) rs1555492659
NM_025193.4(HSD3B7):c.268_281del (p.Val90fs) rs1567370784
NM_025193.4(HSD3B7):c.294dup (p.Lys99fs) rs397514443
NM_025193.4(HSD3B7):c.453del (p.Pro150_Tyr151insTer) rs1567371518
NM_025193.4(HSD3B7):c.890del (p.Phe297fs) rs886043511
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_030632.3(ASXL3):c.1484del (p.Pro495fs) rs886043487
NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter) rs1204482456
NM_030665.4(RAI1):c.3096del (p.Gln1035fs) rs886044681
NM_030665.4(RAI1):c.3281C>A (p.Ser1094Ter) rs376044849
NM_030665.4(RAI1):c.3583A>T (p.Lys1195Ter) rs727504118
NM_030665.4(RAI1):c.412del (p.Val138fs) rs398124419
NM_030665.4(RAI1):c.4678C>T (p.Arg1560Ter) rs727504119
NM_031433.4(MFRP):c.298del (p.Ala100fs) rs750894392
NM_031433.4(MFRP):c.955C>T (p.Gln319Ter) rs1555037395
NM_031443.4(CCM2):c.30+5_30+6delinsTT rs797044623
NM_031475.3(ESPN):c.264G>A (p.Trp88Ter) rs1557690051
NM_031885.5(BBS2):c.1099dup (p.Leu367fs) rs797044632
NM_031885.5(BBS2):c.535-2A>G rs1555523398
NM_032119.4(ADGRV1):c.12368dup (p.Ser4124fs) rs1561701900
NM_032119.4(ADGRV1):c.15984del (p.Tyr5329fs) rs1554125179
NM_032119.4(ADGRV1):c.4251del (p.Lys1417fs) rs1554072688
NM_032119.4(ADGRV1):c.4702del (p.Ser1568fs) rs794727347
NM_032119.4(ADGRV1):c.627del (p.Gly210fs) rs1554063934
NM_032119.4(ADGRV1):c.8204del (p.Asn2735fs) rs794727584
NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter) rs137852884
NM_032520.5(GNPTG):c.436_446del (p.Asn146fs) rs1555451874
NM_032581.4(HYCC1):c.415-1G>A rs886043139
NM_032634.4(PIGO):c.1355_1356del (p.Ala452fs) rs1554672911
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_033337.3(CAV3):c.10_17del (p.Glu4fs) rs778914298
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) rs116840789
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.3(CAV3):c.301T>C (p.Trp101Arg) rs199476337
NM_033380.3(COL4A5):c.1844G>A (p.Gly615Glu) rs794727397
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.152_153del (p.Gln51fs) rs773808155
NM_052989.3(IFT122):c.2035del (p.Ser679fs) rs886042132
NM_054012.4(ASS1):c.1064del (p.Lys355fs) rs886043088
NM_054012.4(ASS1):c.421-2A>G rs751930594
NM_054012.4(ASS1):c.496-2A>G rs398123130
NM_054012.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu) rs759982570
NM_058246.4(DNAJB6):c.279C>A (p.Phe93Leu) rs149278319
NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu) rs149278319
NM_058246.4(DNAJB6):c.287C>G (p.Pro96Arg) rs387907047
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) rs794727881
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs) rs886044584
NM_080680.3(COL11A2):c.3877C>T (p.Arg1293Ter) rs746754428
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_080916.3(DGUOK):c.254_255delinsT (p.Lys85fs) rs1558650352
NM_080916.3(DGUOK):c.255del (p.Ala86fs) rs886037613
NM_080916.3(DGUOK):c.443+1G>A rs1057524864
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer) rs397518432
NM_130468.4(CHST14):c.567del (p.Phe190fs) rs794726956
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1035+1G>A rs727504059
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) rs398124303
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) rs104893753
NM_130837.3(OPA1):c.1305+1G>A rs745927258
NM_130837.3(OPA1):c.1352T>G (p.Leu451Arg) rs727504060
NM_130837.3(OPA1):c.1389dup (p.Gly464fs) rs1553877912
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1517del (p.Leu506fs) rs398124297
NM_130837.3(OPA1):c.1696delinsTTC (p.Ser566fs) rs1553878647
NM_130837.3(OPA1):c.1800C>A (p.Ser600Arg) rs398124298
NM_130837.3(OPA1):c.1834C>T (p.Arg612Ter) rs398124299
NM_130837.3(OPA1):c.2224_2225del (p.Glu742fs) rs794727345
NM_130837.3(OPA1):c.2422C>T (p.Gln808Ter) rs398124301
NM_130837.3(OPA1):c.2547_2548del (p.Glu849fs) rs1560041195
NM_130837.3(OPA1):c.2661+1G>T rs794727392
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) rs794727405
NM_130837.3(OPA1):c.2816dup (p.Arg940fs) rs886043317
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.292_301del (p.Leu98fs) rs794727289
NM_130837.3(OPA1):c.2987_2988del (p.Lys996fs) rs886043136
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.678+2T>G rs1553872742
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.804_805del (p.Lys269fs) rs863224142
NM_130839.5(UBE3A):c.1237G>T (p.Glu413Ter) rs886043612
NM_130839.5(UBE3A):c.1607_1608delinsTGCTAGACAA (p.Arg536fs) rs398124438
NM_130839.5(UBE3A):c.1822_1823del (p.Gln608fs) rs794727738
NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs) rs398124440
NM_130839.5(UBE3A):c.546_547insCT (p.Glu183fs) rs786200996
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter) rs587783892
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter) rs398124466
NM_133433.4(NIPBL):c.2626dup (p.Asp876fs) rs398124467
NM_133433.4(NIPBL):c.3084dup (p.Lys1029Ter) rs1561119439
NM_133433.4(NIPBL):c.3855+2T>C rs886043046
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer) rs1554024009
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter) rs80358362
NM_133433.4(NIPBL):c.5808+2T>G rs794727556
NM_133433.4(NIPBL):c.592del (p.His198fs) rs886043629
NM_133433.4(NIPBL):c.6082C>T (p.Gln2028Ter) rs886044351
NM_133433.4(NIPBL):c.6108+1G>C rs587783994
NM_133433.4(NIPBL):c.6701T>G (p.Leu2234Ter) rs727504047
NM_133433.4(NIPBL):c.7047T>G (p.Tyr2349Ter) rs398124470
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter) rs398124471
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter) rs398124474
NM_133433.4(NIPBL):c.927delinsACA (p.Asp309fs) rs1561101302
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter) rs760426769
NM_138694.4(PKHD1):c.1602+1G>A rs398124476
NM_138694.4(PKHD1):c.1694-1G>A rs398124477
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.4(PKHD1):c.2407+1G>A rs398124479
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter) rs398124480
NM_138694.4(PKHD1):c.2827_2828del (p.Asp943fs) rs398124481
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs) rs1057516762
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.391-1G>C rs398124485
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs) rs752305132
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) rs398124486
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) rs727504087
NM_138694.4(PKHD1):c.5236+1G>A rs398124487
NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs) rs794727572
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs) rs771180444
NM_138694.4(PKHD1):c.602+1G>A rs1554223950
NM_138694.4(PKHD1):c.6499C>T (p.Gln2167Ter) rs368263958
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA rs1562581286
NM_138694.4(PKHD1):c.765C>G (p.Tyr255Ter) rs794727037
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs) rs797044745
NM_138694.4(PKHD1):c.7967_7968del (p.Thr2656fs) rs886043593
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs) rs886042676
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138715.3(MSR1):c.1033+1G>C rs1554466908
NM_138927.4(SON):c.1579_1613del (p.His527fs) rs1569052840
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter) rs587783182
NM_139058.3(ARX):c.1151_1152del (p.Arg384fs) rs398124506
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.30C>A (p.Cys10Ter) rs794726959
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_139058.3(ARX):c.614_642del (p.Leu205fs) rs886043728
NM_139058.3(ARX):c.790del (p.Arg264fs) rs886043552
NM_139125.4(MASP1):c.1779G>A (p.Trp593Ter) rs549330397
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) rs104894490
NM_144997.7(FLCN):c.1060C>T (p.Gln354Ter) rs398124523
NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter) rs398124524
NM_144997.7(FLCN):c.1179del (p.Met394fs) rs398124525
NM_144997.7(FLCN):c.1203dup (p.Ile402fs) rs398124526
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1305del (p.Phe435fs) rs398124527
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter) rs398124530
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter) rs398124532
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.296del (p.Asp99fs) rs398124534
NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs) rs398124535
NM_144997.7(FLCN):c.346C>T (p.Gln116Ter) rs398124536
NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter) rs398124538
NM_144997.7(FLCN):c.828_829dup (p.Ala277fs) rs398124539
NM_144997.7(FLCN):c.83dup (p.Leu29fs) rs398124540
NM_144997.7(FLCN):c.890_893del (p.Glu297fs) rs398124541
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs) rs398124542
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.850del (p.Thr284fs) rs886044525
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter) rs727504181
NM_152281.3(GORAB):c.420-2A>T rs1558006532
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152564.5(VPS13B):c.11378C>G (p.Ser3793Ter) rs794727771
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.5005dup (p.Ser1669fs) rs886042930
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter) rs1566876895
NM_152618.3(BBS12):c.1704G>A (p.Trp568Ter) rs747904021
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_153006.3(NAGS):c.1323C>G (p.Tyr441Ter) rs886042831
NM_153240.5(NPHP3):c.1101_1102insATTTTATTATT (p.His368fs) rs1560014115
NM_153240.5(NPHP3):c.1888-2A>G rs886921615
NM_153240.5(NPHP3):c.1888-7_1893del rs1553773296
NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer) rs758558609
NM_153240.5(NPHP3):c.2994G>A (p.Trp998Ter) rs794727349
NM_153240.5(NPHP3):c.3570+2T>A rs1553771772
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs) rs763300393
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153603.4(COG7):c.323dup (p.Leu108fs) rs797044712
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) rs1554558363
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1142_1157+1del rs1553265755
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys) rs267607545
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser) rs57983345
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1488+1G>A rs267607640
NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro) rs1187380696
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.1609-1G>A rs111569862
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_170707.4(LMNA):c.162_163del (p.Asn56fs) rs879253932
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.48del (p.Ser17fs) rs794726921
NM_170707.4(LMNA):c.65_66delinsT (p.Ser22fs) rs886043745
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.886_887insA (p.Arg296fs) rs797044758
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.94_96del (p.Lys32del) rs60872029
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_172107.4(KCNQ2):c.102del (p.Thr35fs) rs1568986619
NM_172107.4(KCNQ2):c.1118+2T>C rs886042605
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.144del (p.Lys49fs) rs1555881809
NM_172107.4(KCNQ2):c.1820del (p.Gly607fs) rs1555851513
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172250.3(MMAA):c.1034del (p.Phe345fs) rs398124552
NM_172337.2(OTX2):c.402dup (p.Ser135Leufs) rs1555350223
NM_173076.3(ABCA12):c.596G>A (p.Trp199Ter) rs1187032187
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.957del (p.Lys320fs) rs794727884
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) rs773139166
NM_176824.3(BBS7):c.1371+2T>C rs1560647130
NM_176824.3(BBS7):c.649dup (p.Ala217fs) rs886044668
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_181426.2(CCDC39):c.1034+2T>A rs1210953680
NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter) rs772219642
NM_181486.4(TBX5):c.756-1G>C rs1565927906
NM_181705.4(LYRM7):c.37del (p.Thr13fs) rs869025605
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.2853dup (p.Gly952fs) rs1568704829
NM_182961.3(SYNE1):c.9973delG (p.Ala3325Leufs) rs1554550339
NM_182961.4(SYNE1):c.10145+1G>A rs1563391747
NM_182961.4(SYNE1):c.10443+1G>T rs886042799
NM_182961.4(SYNE1):c.12121C>T (p.Arg4041Ter) rs886043963
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) rs794727986
NM_182961.4(SYNE1):c.18740_18741del (p.Leu6247fs) rs886042657
NM_182961.4(SYNE1):c.1912C>T (p.Gln638Ter) rs1554756035
NM_182961.4(SYNE1):c.19514dup (p.Tyr6505Ter) rs886043012
NM_182961.4(SYNE1):c.21052G>T (p.Glu7018Ter) rs1554246434
NM_182961.4(SYNE1):c.21934C>T (p.Gln7312Ter) rs886042421
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) rs1554558620
NM_182961.4(SYNE1):c.23020-1G>A rs1554544827
NM_182961.4(SYNE1):c.23071_23099del (p.Thr7691fs) rs886043645
NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter) rs119103244
NM_182961.4(SYNE1):c.23979-2A>G rs1362058277
NM_182961.4(SYNE1):c.25119+1G>A rs1164612098
NM_182961.4(SYNE1):c.253C>T (p.Arg85Ter) rs768958602
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs) rs794727577
NM_182961.4(SYNE1):c.639del (p.His214fs) rs1412791793
NM_182961.4(SYNE1):c.8866C>T (p.Gln2956Ter) rs886042954
NM_182961.4(SYNE1):c.8890C>T (p.Gln2964Ter) rs1554588688
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter) rs398124573
NM_183050.4(BCKDHB):c.344-1G>A rs398124574
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) rs751953459
NM_183050.4(BCKDHB):c.488A>T (p.Glu163Val) rs398124577
NM_183050.4(BCKDHB):c.592_593del (p.Gln198fs) rs398124586
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer) rs398124587
NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter) rs398124592
NM_183050.4(BCKDHB):c.840+2T>G rs398124596
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs) rs398124601
NM_183050.4(BCKDHB):c.952-1G>A rs398124602
NM_183075.3(CYP2U1):c.786_789del (p.Ile261_Cys262insTer) rs1560701036
NM_194318.4(B3GLCT):c.1065-1G>A rs371904655
NM_194318.4(B3GLCT):c.1067_1082del (p.Ile356fs) rs794727108
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
NM_198129.4(LAMA3):c.8644del (p.Arg2882fs) rs1555745215
NM_198239.2(CCN6):c.246del (p.Glu84fs) rs797044438
NM_198428.3(BBS9):c.1167del (p.Ile391fs) rs886042258
NM_198428.3(BBS9):c.1789+1G>A rs201938124
NM_198586.3(NHLRC1):c.664G>T (p.Glu222Ter) rs794726964
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) rs115352681
NM_201253.3(CRB1):c.3383del (p.Ile1128fs) rs794727980
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs) rs886043587
NM_201384.3(PLEC):c.11287_11288del (p.Ser3763fs) rs886044796
NM_201384.3(PLEC):c.2328_2329insGT (p.Tyr777fs) rs1554714095
NM_201384.3(PLEC):c.4255C>T (p.Gln1419Ter) rs886044836
NM_201384.3(PLEC):c.7180C>T (p.Arg2394Ter) rs886044894
NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter) rs1554683108
NM_201384.3(PLEC):c.9558_9559del (p.Glu3188fs) rs1554681167
NM_201548.5(CERKL):c.1347T>A (p.Tyr449Ter) rs770284500
NM_203475.3(PORCN):c.250del (p.Leu84fs) rs398124617
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.13695T>G (p.Tyr4565Ter) rs1553252343
NM_206933.4(USH2A):c.14175G>A (p.Trp4725Ter) rs886042722
NM_206933.4(USH2A):c.14502_14503del (p.Pro4835fs) rs794727830
NM_206933.4(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.4(USH2A):c.3086del (p.Gly1029fs) rs886044060
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs) rs748369458
NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs) rs1558251742
NM_206933.4(USH2A):c.5167+1G>T rs794727408
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9390G>A (p.Trp3130Ter) rs886042766
NM_206937.2(LIG4):c.1751_1755del (p.Ile584fs) rs770128720
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207352.4(CYP4V2):c.221_222del (p.Phe74fs) rs1561430786
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_207361.6(FREM2):c.5954dup (p.Met1985fs) rs886043213
NM_213599.3(ANO5):c.108_109del (p.Glu36fs) rs886044020
NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter) rs1554930267
NM_213599.3(ANO5):c.1516del (p.Ser506fs) rs1302414683
NM_213599.3(ANO5):c.1520del (p.Phe507fs) rs794727158
NM_213599.3(ANO5):c.1627dup (p.Met543fs) rs281865480
NM_213599.3(ANO5):c.1631-12_1631-2del rs886043327
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter) rs747719953
NM_213599.3(ANO5):c.1709C>G (p.Ser570Ter) rs765262083
NM_213599.3(ANO5):c.1767C>A (p.Tyr589Ter) rs188150039
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.1992dup (p.Gly665fs) rs1554933716
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.3(ANO5):c.201_205del (p.Ser67fs) rs794727745
NM_213599.3(ANO5):c.2172_2178del (p.Ala724_His725insTer) rs794727231
NM_213599.3(ANO5):c.2235+1G>A rs886042442
NM_213599.3(ANO5):c.2446G>T (p.Glu816Ter) rs145127621
NM_213599.3(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.3(ANO5):c.306del (p.Glu103fs) rs1564922516
NM_213599.3(ANO5):c.835C>T (p.Arg279Ter) rs1564930625
NM_213599.3(ANO5):c.889G>T (p.Gly297Ter) rs886043074
NM_213599.3(ANO5):c.989dup (p.Leu330fs) rs398124626
NM_213622.4(STAMBP):c.106_108delinsAA (p.Tyr36fs) rs886043494
Single allele

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