ClinVar Miner

List of variants reported as pathogenic for Inborn genetic diseases

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ClinVar version:
Total variants: 3717
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
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_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_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_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549 0.00252
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
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_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_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_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
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_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
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_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_017613.4(DONSON):c.82A>C (p.Ser28Arg) rs768071555 0.00090
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_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
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_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619 0.00064
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) rs137852695 0.00061
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter) rs144042123 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 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_014324.6(AMACR):c.154T>C (p.Ser52Pro) rs121917814 0.00049
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu) rs138215926 0.00044
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
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_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 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_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
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_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 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_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00023
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154 0.00022
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter) rs370032864 0.00022
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter) rs371720347 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121 0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923 0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926 0.00020
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter) rs141458677 0.00019
NM_020812.4(DOCK6):c.5939+2T>C rs201387914 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_145207.3(AFG2A):c.1714+1G>A rs149688478 0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_000049.4(ASPA):c.212G>A (p.Arg71His) rs104894553 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_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_001134665.3(TRMT10A):c.79G>T (p.Glu27Ter) rs142895837 0.00015
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter) rs147145234 0.00014
NM_012079.6(DGAT1):c.751+2T>C rs148665132 0.00014
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_015910.7(WDPCP):c.979C>T (p.Gln327Ter) rs182144885 0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_018129.4(PNPO):c.98A>T (p.Asp33Val) rs370243877 0.00013
NM_024027.5(COLEC11):c.240_241insGA (p.Arg81fs) rs762031914 0.00013
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 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_001029871.4(RSPO4):c.79+1G>A rs775644973 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 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_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_006567.5(FARS2):c.792del (p.Asp265fs) rs761097220 0.00011
NM_007059.4(KPTN):c.776C>A (p.Ser259Ter) rs374298314 0.00011
NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter) rs368313959 0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) rs200286768 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter) rs200451408 0.00010
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs) rs267608339 0.00010
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) rs138884194 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 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_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_000026.4(ADSL):c.340T>C (p.Tyr114His) rs374259530 0.00009
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283 0.00009
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109 0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 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.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608 0.00009
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) rs375628463 0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg) rs121964881 0.00009
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro) rs148234606 0.00008
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_006907.4(PYCR1):c.633+1G>C rs144346996 0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_001353108.3(CEP63):c.31C>T (p.Arg11Ter) rs763001827 0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter) rs119472026 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_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318 0.00007
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) rs121918374 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs) rs747831095 0.00007
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro) rs137852696 0.00006
NM_000310.4(PPT1):c.541G>A (p.Val181Met) rs148412181 0.00006
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_001080.3(ALDH5A1):c.819del (p.Asp274fs) rs778127154 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001159773.2(CANT1):c.277_278del (p.Leu93fs) rs587776897 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_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter) rs774294963 0.00006
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter) rs368928190 0.00006
NM_018127.7(ELAC2):c.2009del (p.Cys670fs) rs761385155 0.00006
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_173689.7(CRB2):c.2445_2446del (p.Cys816fs) rs777114603 0.00006
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000155.4(GALT):c.253-2A>G rs111033661 0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu) rs144809928 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 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_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu) rs374071862 0.00005
NM_005589.4(ALDH6A1):c.1156C>T (p.Arg386Ter) rs781767219 0.00005
NM_006303.4(AIMP2):c.575-2A>G rs869312968 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_015937.6(PIGT):c.918dup (p.Val307fs) rs751861982 0.00005
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys) rs387906886 0.00005
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter) rs745870736 0.00005
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter) rs143821815 0.00005
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter) rs183478189 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter) rs756134516 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_205850.3(SLC24A5):c.989G>A (p.Trp330Ter) rs753732275 0.00005
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_000126.4(ETFA):c.52C>T (p.Arg18Ter) rs754202690 0.00004
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) rs121909307 0.00004
NM_000197.2(HSD17B3):c.278-1G>C rs149607031 0.00004
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter) rs137852699 0.00004
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000380.4(XPA):c.555+8A>G rs756967163 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 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_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) rs374324018 0.00004
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln) rs758035631 0.00004
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) rs201889294 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812 0.00004
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter) rs563610095 0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) rs372754256 0.00004
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930 0.00004
NM_002693.3(POLG):c.3104+3A>T rs778573169 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003906.5(MCM3AP):c.3476_3477del (p.Gln1159fs) rs756431692 0.00004
NM_005262.3(GFER):c.581G>A (p.Arg194His) rs121908192 0.00004
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp) rs121909485 0.00004
NM_005993.5(TBCD):c.988C>T (p.Gln330Ter) rs1419604407 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys) rs756363870 0.00004
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_007254.4(PNKP):c.603dup (p.Lys202Ter) rs796052859 0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) rs1468358104 0.00004
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00004
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300 0.00004
NM_017775.4(TTC19):c.656T>G (p.Leu219Ter) rs747166010 0.00004
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) rs144495588 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_020680.4(SCYL1):c.399del (p.Asn133fs) rs755131489 0.00004
NM_022336.4(EDAR):c.77C>T (p.Ala26Val) rs550414401 0.00004
NM_024989.4(PGAP1):c.2042del (p.Leu681fs) rs756609752 0.00004
NM_025099.6(CTC1):c.1683dup (p.Lys562Ter) rs1053748363 0.00004
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu) rs150219690 0.00004
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760 0.00004
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs) rs312262755 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr) rs775305020 0.00004
NM_078470.6(COX15):c.649C>T (p.Arg217Trp) rs28939711 0.00004
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_198076.6(COX20):c.41A>G (p.Lys14Arg) rs1057521790 0.00004
NM_198525.3(KIF7):c.328+2T>G rs781752990 0.00004
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284 0.00003
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694 0.00003
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000277.3(PAH):c.136G>A (p.Gly46Ser) rs74603784 0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His) rs192592111 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) rs1209130981 0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs) rs1248355799 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_001005373.4(LRSAM1):c.1913-1G>A rs756880678 0.00003
NM_001010867.4(IBA57):c.316del (p.Thr106fs) rs757794637 0.00003
NM_001032386.2(SUOX):c.649C>T (p.Arg217Trp) rs765738385 0.00003
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286 0.00003
NM_001080510.5(METTL23):c.150dup (p.Asp51fs) rs1462161137 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001312673.2(PCYT1A):c.296C>T (p.Ala99Val) rs587777189 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter) rs145577757 0.00003
NM_001374828.1(ARID1B):c.1987-29738G>T rs201653711 0.00003
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) rs781050795 0.00003
NM_001953.5(TYMP):c.1159+1G>A rs1044840059 0.00003
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_002529.4(NTRK1):c.851-33T>A rs80356674 0.00003
NM_002768.5(CHMP1A):c.108C>T (p.Ala36=) rs764358419 0.00003
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) rs587784353 0.00003
NM_003865.3(HESX1):c.479G>A (p.Arg160His) rs766234350 0.00003
NM_004817.4(TJP2):c.1771C>T (p.Arg591Ter) rs764379398 0.00003
NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs) rs775652214 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014845.6(FIG4):c.2459+1G>A rs747768373 0.00003
NM_016103.4(SAR1B):c.83_84del (p.Leu28fs) rs755928019 0.00003
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs) rs1382373816 0.00003
NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter) rs768131676 0.00003
NM_018972.4(GDAP1):c.845G>A (p.Arg282His) rs375431837 0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147 0.00003
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs) rs1252623454 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter) rs373198092 0.00003
NM_032756.4(HPDL):c.3G>C (p.Met1Ile) rs777607274 0.00003
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370 0.00003
NM_080669.6(SLC46A1):c.1082-1G>A rs80338775 0.00003
NM_130466.4(UBE3B):c.61G>T (p.Glu21Ter) rs775981553 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_182758.4(WDR72):c.708G>A (p.Trp236Ter) rs1266819147 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_201631.4(TGM5):c.104G>A (p.Arg35Gln) rs749224503 0.00003
NM_206965.2(FTCD):c.763C>T (p.Arg255Ter) rs140217223 0.00003
NM_000146.4(FTL):c.310G>T (p.Glu104Ter) rs199869995 0.00002
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000211.5(ITGB2):c.2070del (p.Asp690fs) rs1466186480 0.00002
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000260.4(MYO7A):c.722G>A (p.Arg241His) rs111033284 0.00002
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) rs74315407 0.00002
NM_000312.4(PROC):c.1015G>A (p.Val339Met) rs121918158 0.00002
NM_000341.4(SLC3A1):c.1500+1G>T rs886042834 0.00002
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) rs148092995 0.00002
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter) rs79031340 0.00002
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_001077365.2(POMT1):c.1196del (p.Leu399fs) rs768144522 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001160372.4(TRAPPC9):c.289G>T (p.Glu97Ter) rs781469639 0.00002
NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter) rs142209254 0.00002
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_001611.5(ACP5):c.526C>T (p.Arg176Ter) rs1025967277 0.00002
NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter) rs373774032 0.00002
NM_002894.3(RBBP8):c.1072del (p.His358fs) rs754390284 0.00002
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) rs386134210 0.00002
NM_003793.4(CTSF):c.649C>T (p.Arg217Ter) rs375562245 0.00002
NM_003801.4(GPAA1):c.643C>T (p.Arg215Ter) rs782498857 0.00002
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) rs113994048 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004204.5(PIGQ):c.968_969del (p.Leu323fs) rs747661902 0.00002
NM_004211.5(SLC6A5):c.1315C>T (p.Arg439Ter) rs142573911 0.00002
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val) rs372121045 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005262.3(GFER):c.566C>G (p.Ser189Ter) rs373135339 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_006907.4(PYCR1):c.138+1G>A rs755867227 0.00002
NM_012123.4(MTO1):c.1462C>T (p.Arg488Ter) rs771939280 0.00002
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val) rs199506378 0.00002
NM_014874.4(MFN2):c.334G>A (p.Val112Met) rs757937208 0.00002
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs) rs778824093 0.00002
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826 0.00002
NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter) rs200832994 0.00002
NM_016038.4(SBDS):c.258+1G>C rs113993992 0.00002
NM_017613.4(DONSON):c.1254dup (p.Lys419Ter) rs765112107 0.00002
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp) rs767713084 0.00002
NM_018668.5(VPS33B):c.832dup (p.Leu278fs) rs1442840881 0.00002
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) rs104894002 0.00002
NM_019023.5(PRMT7):c.1402C>T (p.Gln468Ter) rs779212218 0.00002
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733 0.00002
NM_024306.5(FA2H):c.565C>T (p.Arg189Ter) rs765086319 0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_024417.5(FDXR):c.925C>T (p.Arg309Ter) rs760030067 0.00002
NM_025137.4(SPG11):c.258-2A>C rs781665076 0.00002
NM_025137.4(SPG11):c.4746_4747insTG (p.Asn1583Ter) rs764186203 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) rs886039453 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_033419.5(PGAP3):c.109G>T (p.Glu37Ter) rs1242562412 0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554 0.00002
NM_213655.5(WNK1):c.3301C>T (p.Gln1101Ter) rs111033590 0.00002
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) rs104893944 0.00001
NM_000053.4(ATP7B):c.2807T>A (p.Leu936Ter) rs776002066 0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly) rs281875225 0.00001
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter) rs1189607438 0.00001
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter) rs763315862 0.00001
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) rs202080674 0.00001
NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter) rs999171980 0.00001
NM_000155.4(GALT):c.821-7A>G rs767337193 0.00001
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000180.4(GUCY2D):c.1566+1G>A rs1348467293 0.00001
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820 0.00001
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val) rs746006696 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter) rs1276594505 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 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_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) rs74315302 0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) rs72555393 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971 0.00001
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) rs202247791 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000460.4(THPO):c.112C>T (p.Arg38Cys) rs760797899 0.00001
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939 0.00001
NM_000478.6(ALPL):c.997+2T>A rs1057517391 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536 0.00001
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018 0.00001
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667 0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys) rs120074128 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_001005373.4(LRSAM1):c.1694del (p.Leu565fs) rs749012928 0.00001
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter) rs750571210 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter) rs943339467 0.00001
NM_001079866.2(BCS1L):c.696del (p.Gly233fs) rs775388576 0.00001
NM_001080.3(ALDH5A1):c.610-2A>G rs1301821497 0.00001
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) rs28933973 0.00001
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448 0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) rs137852970 0.00001
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter) rs752545577 0.00001
NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys) rs267606701 0.00001
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter) rs587780486 0.00001
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter) rs762607878 0.00001
NM_001164508.2(NEB):c.1849del (p.Asp617fs) rs755531536 0.00001
NM_001182.5(ALDH7A1):c.1489+5G>A rs368820286 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001195248.2(APTX):c.689dup (p.Glu232fs) rs587776593 0.00001
NM_001195553.2(DCX):c.587G>A (p.Arg196His) rs56030372 0.00001
NM_001198800.3(ASCC1):c.311-2A>G rs1281256224 0.00001
NM_001201543.2(FAM161A):c.1321dup (p.His441fs) rs1316281505 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_001253852.3(AP4B1):c.114-2A>G rs879255396 0.00001
NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter) rs1182326570 0.00001
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) rs1410766981 0.00001
NM_001349253.2(SCN11A):c.673C>T (p.Arg225Cys) rs138607170 0.00001
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653 0.00001
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646 0.00001
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001360.3(DHCR7):c.841G>A (p.Val281Met) rs398123607 0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) rs121909765 0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 0.00001
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter) rs375053470 0.00001
NM_001370100.5(ZMYND11):c.744_745del (p.Cys249fs) rs772620276 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001371533.1(FUT8):c.715C>T (p.Arg239Ter) rs1460811017 0.00001
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970 0.00001
NM_001372044.2(SHANK3):c.2455+1G>A rs1396379503 0.00001
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter) rs515726137 0.00001
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.913C>T (p.Gln305Ter) rs1158349299 0.00001
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter) rs1554117456 0.00001
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) rs782138777 0.00001
NM_001759.4(CCND2):c.814G>T (p.Glu272Ter) rs1477693311 0.00001
NM_001853.4(COL9A3):c.1411C>T (p.Arg471Ter) rs747896279 0.00001
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter) rs773153659 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665 0.00001
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543 0.00001
NM_002335.4(LRP5):c.1709G>A (p.Arg570Gln) rs80358312 0.00001
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile) rs121918103 0.00001
NM_002857.4(PEX19):c.775C>T (p.Gln259Ter) rs869312934 0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp) rs761533681 0.00001
NM_003042.4(SLC6A1):c.967G>A (p.Val323Ile) rs1403165900 0.00001
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter) rs764791523 0.00001
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter) rs772263867 0.00001
NM_003721.4(RFXANK):c.438+1G>T rs869312922 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004268.5(MED17):c.1444C>T (p.Gln482Ter) rs372622191 0.00001
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_005094.4(SLC27A4):c.556+2T>G rs368207076 0.00001
NM_005208.5(CRYBA1):c.215+1G>A rs1264025914 0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078 0.00001
NM_005559.4(LAMA1):c.3397C>T (p.Arg1133Ter) rs767889331 0.00001
NM_005618.4(DLL1):c.2044_2045del (p.Arg682fs) rs1783602877 0.00001
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) rs771409809 0.00001
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter) rs869312917 0.00001
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs) rs869312929 0.00001
NM_006059.4(LAMC3):c.1033_1039del (p.Ser345fs) rs1426926688 0.00001
NM_006070.6(TFG):c.316C>T (p.Arg106Cys) rs587777175 0.00001
NM_006096.4(NDRG1):c.16C>T (p.Gln6Ter) rs1048918488 0.00001
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter) rs1195818093 0.00001
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012233.3(RAB3GAP1):c.1471C>T (p.Arg491Ter) rs752667359 0.00001
NM_014053.4(FLVCR1):c.3G>T (p.Met1Ile) rs899735028 0.00001
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs) rs1391540245 0.00001
NM_014243.3(ADAMTS3):c.280C>T (p.Arg94Ter) rs747975445 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736 0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs) rs1057516767 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_014780.5(CUL7):c.4717C>T (p.Arg1573Ter) rs749509661 0.00001
NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter) rs760575768 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376 0.00001
NM_015338.6(ASXL1):c.1117C>T (p.Gln373Ter) rs1427299519 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val) rs1277383877 0.00001
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter) rs776757548 0.00001
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00001
NM_016222.4(DDX41):c.268C>T (p.Gln90Ter) rs199675507 0.00001
NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter) rs1345580310 0.00001
NM_016335.6(PRODH):c.1236C>A (p.Tyr412Ter) rs772562722 0.00001
NM_017547.4(FOXRED1):c.1054C>T (p.Arg352Trp) rs387907087 0.00001
NM_017547.4(FOXRED1):c.1102C>T (p.Gln368Ter) rs1555066709 0.00001
NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter) rs993687029 0.00001
NM_017613.4(DONSON):c.1324C>T (p.Arg442Ter) rs753648048 0.00001
NM_017617.5(NOTCH1):c.166C>T (p.Arg56Ter) rs1348892740 0.00001
NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln) rs1047420796 0.00001
NM_017866.6(TMEM70):c.238C>T (p.Arg80Ter) rs387907070 0.00001
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter) rs763770476 0.00001
NM_018238.4(AGK):c.390+1G>T rs777096695 0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter) rs146140738 0.00001
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) rs397515417 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 0.00001
NM_019026.6(TMCO1):c.372C>A (p.Tyr124Ter) rs1553249737 0.00001
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_020191.4(MRPS22):c.489T>G (p.Tyr163Ter) rs201337850 0.00001
NM_020320.5(RARS2):c.1156C>T (p.Arg386Ter) rs199728745 0.00001
NM_020376.4(PNPLA2):c.613dup (p.Leu205fs) rs796065308 0.00001
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371 0.00001
NM_020632.3(ATP6V0A4):c.777del (p.Met259fs) rs1445362077 0.00001
NM_020745.4(AARS2):c.2146-2A>G rs368934219 0.00001
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys) rs267607146 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_022041.4(GAN):c.806G>A (p.Arg269Gln) rs759581558 0.00001
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter) rs1303653650 0.00001
NM_022552.5(DNMT3A):c.2536C>T (p.Gln846Ter) rs781139634 0.00001
NM_024312.5(GNPTAB):c.613C>T (p.Gln205Ter) rs1953327287 0.00001
NM_024339.5(THOC6):c.259C>T (p.Arg87Ter) rs763344375 0.00001
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) rs1423753702 0.00001
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836 0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs) rs767774867 0.00001
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759 0.00001
NM_025137.4(SPG11):c.4790G>A (p.Trp1597Ter) rs753920931 0.00001
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter) rs312262785 0.00001
NM_030653.4(DDX11):c.223C>T (p.Arg75Ter) rs781413815 0.00001
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter) rs752764598 0.00001
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter) rs1896432430 0.00001
NM_033409.4(SLC52A3):c.550G>T (p.Glu184Ter) rs890871342 0.00001
NM_052867.4(NALCN):c.2203C>T (p.Arg735Ter) rs757674263 0.00001
NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter) rs376152742 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_057175.5(NAA15):c.382C>T (p.Arg128Ter) rs1274633498 0.00001
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) rs104893632 0.00001
NM_133443.4(GPT2):c.70C>T (p.Gln24Ter) rs1437184398 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter) rs1156390688 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152743.4(BRAT1):c.803+1G>C rs869312931 0.00001
NM_153006.3(NAGS):c.1025del (p.Arg342fs) rs730880266 0.00001
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00001
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter) rs142394051 0.00001
NM_174916.3(UBR1):c.3055C>T (p.Arg1019Ter) rs267604210 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter) rs146278035 0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs) rs141672841 0.00001
NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter) rs756173225 0.00001
NC_000002.12:g.27484267del
NM_000018.4(ACADVL):c.1244C>T (p.Ala415Val)
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000019.4(ACAT1):c.757G>A (p.Asp253Asn) rs869312946
NM_000027.4(AGA):c.329del (p.Asn110fs) rs764357395
NM_000033.4(ABCD1):c.1073C>G (p.Ser358Ter)
NM_000033.4(ABCD1):c.1171_1178del (p.Leu391fs)
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.2014C>T (p.Gln672Ter)
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter) rs2091706547
NM_000033.4(ABCD1):c.583C>T (p.Gln195Ter)
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000035.4(ALDOB):c.255C>G (p.Tyr85Ter) rs761063847
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000043.6(FAS):c.717_720dup (p.Thr241fs) rs1554852244
NM_000049.4(ASPA):c.211C>A (p.Arg71Ser)
NM_000049.4(ASPA):c.244_245del (p.Met82fs) rs786204620
NM_000049.4(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000049.4(ASPA):c.358_361del (p.Ser120fs)
NM_000049.4(ASPA):c.550C>T (p.Gln184Ter) rs1597439028
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.31dup (p.Thr11fs) rs1569549376
NM_000052.7(ATP7A):c.3799C>T (p.Gln1267Ter)
NM_000052.7(ATP7A):c.3946dup (p.Ile1316fs)
NM_000053.4(ATP7B):c.1543+1G>T rs1360279134
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)
NM_000053.4(ATP7B):c.2304del (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.956del (p.Pro319fs) rs753674382
NM_000062.3(SERPING1):c.1360_1393del (p.Val454fs)
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000062.3(SERPING1):c.51+3A>G
NM_000062.3(SERPING1):c.732_733dup (p.Ser245fs)
NM_000074.3(CD40LG):c.559del (p.Ala187fs) rs1556143529
NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)
NM_000081.4(LYST):c.2755_2773del (p.Ser919fs)
NM_000082.4(ERCC8):c.577del (p.Ser193fs)
NM_000083.3(CLCN1):c.122del (p.Gly41fs) rs1802291231
NM_000088.4(COL1A1):c.1496_1497del (p.Asp499fs) rs1555573789
NM_000089.4(COL1A2):c.1208G>A (p.Gly403Asp) rs1554396271
NM_000089.4(COL1A2):c.1361G>T (p.Gly454Val) rs797044949
NM_000089.4(COL1A2):c.1557+3A>G rs72658127
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup) rs1554398396
NM_000089.4(COL1A2):c.432+1G>A rs1554395431
NM_000090.4(COL3A1):c.2114_2121+2del rs1688402212
NM_000091.5(COL4A3):c.2497G>A (p.Gly833Ser) rs2072039168
NM_000092.5(COL4A4):c.3086dup (p.Gly1030fs)
NM_000092.5(COL4A4):c.3909del (p.Gly1304fs)
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.5(COL4A4):c.502del (p.Glu168fs)
NM_000092.5(COL4A4):c.868A>T (p.Lys290Ter)
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6724G>C (p.Gly2242Arg) rs121912837
NM_000094.4(COL7A1):c.7984-2del rs2043665261
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000123.4(ERCC5):c.1358_1359del (p.Ser453fs) rs1468211891
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs) rs1590406503
NM_000124.4(ERCC6):c.488_494del (p.Thr163fs) rs1554794342
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys) rs119103290
NM_000127.3(EXT1):c.1587G>A (p.Trp529Ter) rs763608530
NM_000135.4(FANCA):c.462T>A (p.Tyr154Ter)
NM_000138.5(FBN1):c.1238_1239insAG (p.Pro414fs) rs2043800325
NM_000138.5(FBN1):c.7006G>T (p.Glu2336Ter) rs1199524458
NM_000138.5(FBN1):c.8206dup (p.Thr2736fs) rs1555393647
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys) rs121918490
NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp) rs387906678
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000147.5(FUCA1):c.1164T>G (p.Tyr388Ter)
NM_000151.4(G6PC1):c.262del (p.Val88fs) rs755612674
NM_000152.5(GAA):c.1692del (p.Leu565fs) rs1555601234
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000156.6(GAMT):c.24del (p.Ile9fs) rs967689898
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.442C>T (p.Gln148Ter)
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000159.4(GCDH):c.636G>A (p.Trp212Ter)
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000165.5(GJA1):c.460A>G (p.Thr154Ala)
NM_000166.6(GJB1):c.394_395del (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.450del (p.Met150fs)
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter) rs781422192
NM_000168.6(GLI3):c.2709_2763del (p.Arg905fs) rs1787181000
NM_000168.6(GLI3):c.2773C>T (p.Gln925Ter) rs1787180396
NM_000170.3(GLDC):c.1326T>A (p.Cys442Ter)
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter) rs143745703
NM_000181.4(GUSB):c.1583G>A (p.Trp528Ter)
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) rs119481076
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1426del (p.His476fs) rs2041597805
NM_000202.8(IDS):c.186_240+98del
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.632del (p.Lys211fs)
NM_000202.8(IDS):c.701_705delinsG (p.Arg233_Tyr234insTer)
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys) rs111033618
NM_000214.3(JAG1):c.2129dup (p.Asp710fs) rs2067300184
NM_000214.3(JAG1):c.3140C>A (p.Ser1047Ter) rs267605834
NM_000216.4(ANOS1):c.90_100dup (p.Arg34fs) rs1555904596
NM_000217.3(KCNA1):c.1202C>T (p.Ala401Val) rs797044929
NM_000217.3(KCNA1):c.520G>T (p.Val174Phe) rs104894349
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
NM_000263.4(NAGLU):c.886del (p.Leu296fs) rs752131463
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter) rs1554698260
NM_000264.5(PTCH1):c.2105_2106del (p.Pro702fs) rs1840290349
NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter) rs1554708787
NM_000264.5(PTCH1):c.2460C>A (p.Tyr820Ter) rs766227557
NM_000264.5(PTCH1):c.3107T>A (p.Leu1036Ter) rs1554691359
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) rs377130051
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.2847G>A (p.Trp949Ter) rs2145370569
NM_000273.3(GPR143):c.13C>T (p.Arg5Cys) rs62635289
NM_000273.3(GPR143):c.768-1G>A rs1555914303
NM_000275.3(OCA2):c.131del (p.Gly44fs) rs780625433
NM_000275.3(OCA2):c.2323G>C (p.Gly775Arg) rs774822330
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000278.5(PAX2):c.890C>G (p.Ser297Ter) rs1554865146
NM_000282.4(PCCA):c.866_867del (p.Glu289fs) rs760976198
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter) rs863224156
NM_000284.4(PDHA1):c.735A>C (p.Arg245Ser) rs1555934376
NM_000284.4(PDHA1):c.832-1G>A rs1555934843
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.948_964dup (p.Asp322fs) rs2063232730
NM_000284.4(PDHA1):c.966_970del (p.Arg323fs)
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2663G>T (p.Arg888Leu) rs267608247
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter) rs1555467557
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1960C>T (p.Arg654Ter) rs146396414
NM_000297.4(PKD2):c.196_199dup (p.Pro67fs) rs1726231891
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.538dup (p.Leu180fs) rs1371793191
NM_000303.3(PMM2):c.414del (p.Glu139fs) rs755008774
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.215C>T (p.Ser72Leu) rs104894621
NM_000304.4(PMP22):c.36C>A (p.His12Gln) rs104894622
NM_000306.4(POU1F1):c.427C>T (p.Arg143Ter)
NM_000308.4(CTSA):c.990del (p.Cys331fs)
NM_000311.5(PRNP):c.314C>T (p.Pro105Leu) rs11538758
NM_000311.5(PRNP):c.350C>T (p.Ala117Val) rs74315402
NM_000314.8(PTEN):c.164+1_164+5del rs1859100502
NM_000325.6(PITX2):c.448_449del (p.Arg150fs) rs2110432091
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser) rs121908555
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) rs121912744
NM_000346.4(SOX9):c.227C>A (p.Ala76Glu) rs137853128
NM_000346.4(SOX9):c.331G>A (p.Ala111Thr) rs1425166755
NM_000350.3(ABCA4):c.1302del (p.Gln437fs) rs1448468321
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter) rs61750644
NM_000352.6(ABCC8):c.1630+1G>A
NM_000352.6(ABCC8):c.1634del (p.Phe545fs) rs1260178539
NM_000352.6(ABCC8):c.622G>T (p.Glu208Ter)
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000360.4(TH):c.672C>G (p.Tyr224Ter) rs1554923218
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000380.4(XPA):c.288del (p.Val97fs)
NM_000381.4(MID1):c.1222G>T (p.Glu408Ter)
NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer) rs1569268029
NM_000388.4(CASR):c.384C>A (p.Phe128Leu) rs1553766262
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1497del (p.Gly501fs) rs1554901523
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000392.5(ABCC2):c.1891del (p.Cys631fs)
NM_000392.5(ABCC2):c.4239_4240dup (p.His1414fs) rs762346634
NM_000394.4(CRYAA):c.346C>A (p.Arg116Ser) rs74315439
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000414.4(HSD17B4):c.707T>A (p.Leu236Ter)
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
NM_000426.4(LAMA2):c.3752dup (p.Lys1252fs) rs1554269855
NM_000426.4(LAMA2):c.8244+1G>T rs749522728
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs) rs797045865
NM_000440.3(PDE6A):c.1268del (p.Ser422_Leu423insTer) rs1456336365
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs) rs748219743
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp) rs72551343
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.6003G>A (p.Trp2001Ter) rs1557082399
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr) rs122445111
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000494.4(COL17A1):c.340del (p.Ser114fs)
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter) rs1816578250
NM_000512.5(GALNS):c.122T>A (p.Met41Lys) rs1555523411
NM_000516.7(GNAS):c.103C>T (p.Gln35Ter) rs2089386059
NM_000516.7(GNAS):c.140-1G>C
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.484T>C (p.Cys162Arg)
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000518.4(HBB):c.316-149_*342delinsAAGTAGA rs1847513733
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.190C>T (p.His64Tyr) rs33922873
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs) rs1555706706
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.181dup (p.Asp61fs)
NM_000530.8(MPZ):c.301dup (p.Trp101fs)
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) rs1017715903
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.380G>C (p.Cys127Ser) rs797044941
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter) rs1571818312
NM_000531.6(OTC):c.179C>G (p.Ser60Ter)
NM_000531.6(OTC):c.622G>A (p.Ala208Thr) rs72558416
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000533.5(PLP1):c.2T>C (p.Met1Thr) rs864622194
NM_000533.5(PLP1):c.2T>G (p.Met1Arg) rs864622194
NM_000533.5(PLP1):c.354_355del (p.Gly120fs) rs1556267123
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000552.5(VWF):c.1533+1G>T rs1555198839
NM_000552.5(VWF):c.3231dup (p.Glu1078fs)
NM_000612.6(IGF2):c.100G>C (p.Gly34Arg)
NM_000642.3(AGL):c.1000dup (p.Thr334fs) rs1553185302
NM_000642.3(AGL):c.2036del (p.Lys679fs) rs2100759432
NM_000660.7(TGFB1):c.653G>A (p.Arg218His) rs104894720
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met) rs121918620
NM_000702.4(ATP1A2):c.1778G>A (p.Arg593Gln) rs1553245178
NM_000702.4(ATP1A2):c.879C>G (p.Ile293Met) rs1553244746
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs) rs398123489
NM_000709.4(BCKDHA):c.568C>T (p.Gln190Ter)
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr) rs797044881
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) rs780950819
NM_000787.4(DBH):c.382C>T (p.Gln128Ter)
NM_000808.4(GABRA3):c.1421A>G (p.Tyr474Cys) rs1936960785
NM_000834.5(GRIN2B):c.1382G>T (p.Cys461Phe) rs1949427787
NM_000834.5(GRIN2B):c.1916C>T (p.Ala639Val) rs797044930
NM_000834.5(GRIN2B):c.2011-32_2014del rs1948714266
NM_000834.5(GRIN2B):c.2249_2250dup (p.Ile751fs)
NM_000834.5(GRIN2B):c.2458G>A (p.Gly820Arg) rs1555103150
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.5(GRIN2B):c.2607C>A (p.Tyr869Ter)
NM_000834.5(GRIN2B):c.99del (p.Ser34fs)
NM_000875.5(IGF1R):c.1030del (p.Val344fs)
NM_000875.5(IGF1R):c.1931A>G (p.Tyr644Cys) rs1555460702
NM_000875.5(IGF1R):c.2904del (p.Asn969fs) rs1555463008
NM_000875.5(IGF1R):c.3348_3366dup (p.Met1123fs) rs1322503729
NM_000921.5(PDE3A):c.1339G>A (p.Ala447Thr) rs794726866
NM_000939.4(POMC):c.20_21insGGGCCCTCGGGGGCCCCTCGGGTGG (p.Ser7fs) rs746815510
NM_000944.5(PPP3CA):c.275A>G (p.His92Arg) rs1553925558
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000969.5(RPL5):c.41del (p.Lys14fs) rs1686991727
NM_001001563.5(TIMM50):c.805G>A (p.Gly269Ser) rs797044891
NM_001002295.2(GATA3):c.587del (p.Leu196fs) rs1554794844
NM_001003694.2(BRPF1):c.1363C>T (p.Arg455Ter) rs1057519510
NM_001003694.2(BRPF1):c.1414del (p.Glu472fs) rs2077000019
NM_001003694.2(BRPF1):c.1745G>A (p.Trp582Ter)
NM_001003694.2(BRPF1):c.2072dup (p.Tyr691Ter)
NM_001003694.2(BRPF1):c.2308_2309del (p.Asp770fs) rs1553696275
NM_001003694.2(BRPF1):c.2430_2451delinsTCTGGCATC (p.Arg811fs)
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs) rs762904815
NM_001003694.2(BRPF1):c.28_29del (p.Phe10fs) rs1553693712
NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter) rs2125500187
NM_001003694.2(BRPF1):c.883_884del (p.Met295fs)
NM_001003694.2(BRPF1):c.917del (p.Gly306fs) rs2076991221
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) rs1064795760
NM_001005273.3(CHD3):c.1618dup (p.Arg540fs)
NM_001005273.3(CHD3):c.2896C>T (p.Arg966Trp) rs1064795892
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
NM_001005373.4(LRSAM1):c.1267G>T (p.Glu423Ter)
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_001005373.4(LRSAM1):c.831del (p.Gln278fs)
NM_001005388.3(NFASC):c.2579_2580del (p.Leu860fs)
NM_001008212.2(OPTN):c.1003C>T (p.Gln335Ter)
NM_001008212.2(OPTN):c.76del (p.His26fs) rs753966040
NM_001008537.3(NEXMIF):c.1050dup (p.Lys351Ter) rs2080115006
NM_001008537.3(NEXMIF):c.1518_1522del (p.Arg507fs) rs1556016642
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.4152dup (p.Ser1385fs) rs2080098372
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs) rs2151710347
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs) rs1555447011
NM_001009944.3(PKD1):c.11299_11342del (p.Val3767fs)
NM_001009944.3(PKD1):c.11526G>A (p.Trp3842Ter)
NM_001009944.3(PKD1):c.11626_11653del (p.Ala3876fs)
NM_001009944.3(PKD1):c.11778dup (p.Arg3927fs)
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12365G>A (p.Trp4122Ter) rs2091438383
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter) rs2091395464
NM_001009944.3(PKD1):c.1944dup (p.Gly649fs)
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.235del (p.Leu79fs)
NM_001009944.3(PKD1):c.2414del (p.Gly805fs)
NM_001009944.3(PKD1):c.2854-2A>G rs1555457488
NM_001009944.3(PKD1):c.3706C>T (p.Gln1236Ter)
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter) rs1596591955
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter) rs2092450284
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter) rs755747732
NM_001009944.3(PKD1):c.6312_6318dup (p.Glu2107delinsHisArgTer)
NM_001009944.3(PKD1):c.670_691del (p.Leu224fs)
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter) rs1555453395
NM_001009944.3(PKD1):c.7138G>T (p.Glu2380Ter)
NM_001009944.3(PKD1):c.7597_7598del (p.Ser2533fs)
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter) rs764840802
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter) rs757768731
NM_001009944.3(PKD1):c.8428G>T (p.Glu2810Ter)
NM_001009944.3(PKD1):c.9195_9196del (p.Phe3066fs)
NM_001009944.3(PKD1):c.9340C>T (p.Gln3114Ter)
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9584G>A (p.Trp3195Ter)
NM_001011658.4(TRAPPC2):c.93+5G>A rs587776752
NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu) rs1561180439
NM_001012614.2(CTBP1):c.991C>T (p.Arg331Trp) rs869320802
NM_001015877.2(PHF6):c.241-5_255del
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter) rs1556018932
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter) rs1556019107
NM_001015877.2(PHF6):c.915_916delinsAA (p.Cys305_Gly306delinsTer) rs797044908
NM_001017420.3(ESCO2):c.166_170del (p.Val56fs) rs750842366
NM_001017980.4(VMA21):c.163+4A>G rs797044909
NM_001018115.3(FANCD2):c.1449del (p.Ser483fs) rs2087129514
NM_001018115.3(FANCD2):c.2465T>A (p.Leu822Ter)
NM_001020658.2(PUM1):c.2500G>T (p.Glu834Ter)
NM_001020658.2(PUM1):c.962_965dup (p.Ala323fs)
NM_001024630.4(RUNX2):c.1379dup (p.Asp463fs) rs1582232661
NM_001024630.4(RUNX2):c.823del (p.Ser275fs)
NM_001029896.2(WDR45):c.139C>T (p.Gln47Ter) rs2065046104
NM_001029896.2(WDR45):c.139dup (p.Gln47fs) rs2065046125
NM_001029896.2(WDR45):c.14del (p.Pro5fs)
NM_001029896.2(WDR45):c.180del (p.Asn61fs) rs2065045769
NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter) rs886041382
NM_001029896.2(WDR45):c.235+2T>C rs1602540211
NM_001029896.2(WDR45):c.408dup (p.Glu137Ter) rs1557084239
NM_001029896.2(WDR45):c.46C>T (p.Gln16Ter) rs1557084549
NM_001029896.2(WDR45):c.508C>T (p.Gln170Ter) rs1557084120
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter) rs387907329
NM_001029896.2(WDR45):c.879_880del (p.Gln294fs)
NM_001031710.3(KLHL7):c.598_601del (p.Leu199_Thr200insTer) rs1784160131
NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter) rs1057519501
NM_001032221.6(STXBP1):c.1110G>A (p.Gln370=) rs1554778227
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1304del (p.Glu435fs)
NM_001032221.6(STXBP1):c.1359+2T>C rs1554778509
NM_001032221.6(STXBP1):c.1419C>A (p.Tyr473Ter)
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_001032221.6(STXBP1):c.1593C>A (p.Tyr531Ter) rs767199598
NM_001032221.6(STXBP1):c.1631del (p.Gly544fs) rs1554778941
NM_001032221.6(STXBP1):c.298del (p.Arg100fs) rs1554776842
NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr) rs121918318
NM_001032221.6(STXBP1):c.639dup (p.Ala214fs) rs1554777375
NM_001032221.6(STXBP1):c.792C>A (p.Tyr264Ter) rs1841291684
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001032221.6(STXBP1):c.875G>T (p.Arg292Leu) rs796053361
NM_001032221.6(STXBP1):c.956del (p.Gly319fs) rs1554777919
NM_001032221.6(STXBP1):c.989dup (p.Met330fs) rs1841564743
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001032386.2(SUOX):c.423del (p.Val142fs)
NM_001032386.2(SUOX):c.842_843del (p.Leu281fs) rs748900391
NM_001034850.3(RETREG1):c.18_19del (p.Pro7fs) rs137852736
NM_001034850.3(RETREG1):c.44_71del (p.Pro15fs) rs2126388556
NM_001034852.3(SMOC1):c.809G>A (p.Trp270Ter)
NM_001035256.2(POMC):c.20_21ins25
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001039570.3(KREMEN1):c.357del (p.Gly120fs)
NM_001039591.3(USP9X):c.1763+1G>A rs1555922391
NM_001039591.3(USP9X):c.1957G>T (p.Glu653Ter)
NM_001039591.3(USP9X):c.5634dup (p.His1879fs) rs2063210388
NM_001039591.3(USP9X):c.6611del (p.Thr2204fs) rs2063281419
NM_001039591.3(USP9X):c.82dup (p.Leu28fs) rs758083405
NM_001039591.3(USP9X):c.982_983del (p.Thr327_Val328insTer) rs2062419468
NM_001039672.3(YIF1B):c.186dup (p.Ala63fs) rs1969221767
NM_001040142.2(SCN2A):c.1094C>T (p.Thr365Met)
NM_001040142.2(SCN2A):c.1530_1531del (p.Lys511fs) rs1697702086
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter) rs746060762
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs) rs1698166561
NM_001040142.2(SCN2A):c.1890_1891del (p.Ala631fs) rs1698169832
NM_001040142.2(SCN2A):c.2356C>T (p.Gln786Ter) rs1553574733
NM_001040142.2(SCN2A):c.2388+1dup
NM_001040142.2(SCN2A):c.2504T>G (p.Leu835Ter) rs1699364897
NM_001040142.2(SCN2A):c.2645G>A (p.Gly882Glu) rs1553579305
NM_001040142.2(SCN2A):c.3067_3068del (p.Glu1023fs) rs1553583712
NM_001040142.2(SCN2A):c.3190_3230dup (p.Ile1078fs)
NM_001040142.2(SCN2A):c.386+2T>C rs1553564400
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4407del (p.Ile1469fs)
NM_001040142.2(SCN2A):c.4648del (p.Val1550fs)
NM_001040142.2(SCN2A):c.4752del (p.Leu1585fs)
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4967C>T (p.Ser1656Phe) rs1553463464
NM_001040142.2(SCN2A):c.4980_4983del (p.Phe1661fs) rs1558885691
NM_001040142.2(SCN2A):c.5308A>T (p.Met1770Leu) rs1553463594
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val) rs1553463602
NM_001040142.2(SCN2A):c.802C>T (p.Gln268Ter) rs1553567936
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_001042424.3(NSD2):c.814G>T (p.Glu272Ter) rs1719469952
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_001042432.2(CLN3):c.954_962+18del rs386833741
NM_001042432.2(CLN3):c.954dup (p.Tyr319fs)
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs) rs2046109345
NM_001042492.3(NF1):c.1722C>G (p.Ser574Arg) rs2144015494
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter) rs2067188361
NM_001042492.3(NF1):c.4729C>T (p.Gln1577Ter) rs797044942
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5619dup (p.Tyr1874fs) rs1555533842
NM_001042492.3(NF1):c.5835T>A (p.Cys1945Ter) rs1555534380
NM_001042492.3(NF1):c.6915_6916dup (p.Asn2306fs) rs1555535052
NM_001042646.3(TRAK1):c.1412_1413del (p.Glu471fs) rs1553608726
NM_001042681.2(RERE):c.1920del (p.Ser641fs) rs1553155778
NM_001042681.2(RERE):c.3586C>T (p.Arg1196Ter) rs1641481122
NM_001042750.2(STAG2):c.2924+2_2924+11del rs2058961860
NM_001046.3(SLC12A2):c.3312del (p.Phe1104fs)
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.633C>A (p.Tyr211Ter)
NM_001079668.3(NKX2-1):c.170_182del (p.Val57fs) rs1881225977
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) rs137852693
NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln) rs1555349221
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs) rs1555349214
NM_001079668.3(NKX2-1):c.818_825del (p.Gly273fs) rs1555349184
NM_001079668.3(NKX2-1):c.921_930del (p.Gly308fs) rs1555349160
NM_001079866.2(BCS1L):c.418del (p.Leu140fs) rs1057517412
NM_001079866.2(BCS1L):c.785_786del (p.Leu261_Ser262insTer) rs1553597538
NM_001079872.2(CUL4B):c.1165G>T (p.Glu389Ter) rs1556213001
NM_001079872.2(CUL4B):c.721C>T (p.Gln241Ter) rs1556220623
NM_001080.3(ALDH5A1):c.781C>T (p.Arg261Ter)
NM_001080442.3(SLC38A8):c.1002del (p.Ser336fs) rs587777255
NM_001080453.3(INTS1):c.2197del (p.Leu733fs)
NM_001080453.3(INTS1):c.789dup (p.Arg264fs)
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs) rs746453662
NM_001080510.5(METTL23):c.178del (p.Glu60fs) rs1382444181
NM_001080517.3(SETD5):c.1783-2A>T rs797044953
NM_001080517.3(SETD5):c.1801del (p.Lys600_Leu601insTer) rs2042181751
NM_001080517.3(SETD5):c.1915C>T (p.Gln639Ter) rs2042191502
NM_001080517.3(SETD5):c.2003C>G (p.Ser668Ter)
NM_001080517.3(SETD5):c.2347-7A>G rs886041593
NM_001080517.3(SETD5):c.2474dup (p.Asp826fs)
NM_001080517.3(SETD5):c.3001C>T (p.Arg1001Ter)
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter) rs2045524028
NM_001080517.3(SETD5):c.3257del (p.Gly1086fs)
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs) rs1553641476
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001081.4(CUBN):c.5573del (p.Gly1858fs) rs1842591499
NM_001082971.2(DDC):c.128del (p.Pro43fs)
NM_001082971.2(DDC):c.19C>T (p.Arg7Ter) rs138828136
NM_001083116.3(PRF1):c.1432del (p.Pro477_Leu478insTer)
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del) rs745902829
NM_001083961.2(WDR62):c.2575C>T (p.Gln859Ter) rs1006898944
NM_001083961.2(WDR62):c.3124G>T (p.Gly1042Ter)
NM_001083962.2(TCF4):c.1142_1143del (p.Ser381fs)
NM_001083962.2(TCF4):c.1267_1268del (p.Gly423fs) rs1555764170
NM_001083962.2(TCF4):c.1304C>G (p.Ser435Ter) rs1555763998
NM_001083962.2(TCF4):c.1399_1403del (p.Leu467fs)
NM_001083962.2(TCF4):c.1551dup (p.Glu518fs)
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln) rs1057521070
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001083962.2(TCF4):c.469del (p.Arg157fs) rs1569138023
NM_001083962.2(TCF4):c.505C>T (p.Gln169Ter)
NM_001083962.2(TCF4):c.624del (p.Ser209fs) rs2062118353
NM_001083962.2(TCF4):c.633_634insAAAA (p.Pro212fs)
NM_001083962.2(TCF4):c.673del (p.Asp225fs) rs1555797248
NM_001083962.2(TCF4):c.680G>A (p.Trp227Ter) rs1555797231
NM_001083962.2(TCF4):c.931G>T (p.Gly311Ter) rs1555778204
NM_001098.3(ACO2):c.2105_2106del (p.Gln702fs) rs1555890974
NM_001099857.5(IKBKG):c.187+1G>A
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100.4(ACTA1):c.868G>C (p.Asp290His) rs1553255354
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.259C>G (p.His87Asp) rs1554329552
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.5(ACTB):c.987_990dup (p.Ala331fs) rs1784799235
NM_001110556.2(FLNA):c.521G>A (p.Gly174Asp) rs1557179659
NM_001110792.2(MECP2):c.1095_1226delinsACTCTGAGTGGTGGTGATGGTGGT (p.Arg366_Glu409delinsLeuTer)
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1143_1192delinsCCCCCG (p.His382fs)
NM_001110792.2(MECP2):c.1165_1264del (p.Lys389fs)
NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs) rs267608576
NM_001110792.2(MECP2):c.1189_*1302delinsTCCCG (p.Pro397fs)
NM_001110792.2(MECP2):c.1197_1252del (p.Pro400fs)
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs) rs267608600
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1203_1231del (p.Pro402fs)
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer) rs2148659508
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.437C>G (p.Ser146Cys) rs61748390
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.47_57dup (p.Arg20fs) rs786205042
NM_001110792.2(MECP2):c.48C>T (p.Gly16=) rs786205045
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) rs61748407
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) rs61749724
NM_001110792.2(MECP2):c.648dup (p.Glu217fs) rs1557136758
NM_001110792.2(MECP2):c.744_751del (p.Gly249fs) rs2065947222
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
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.892_895del (p.Lys298fs) rs61750256
NM_001110792.2(MECP2):c.908dup (p.Ser304fs)
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.91C>T (p.Gln31Ter) rs61754425
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001111.5(ADAR):c.2885+2T>C rs1696919284
NM_001111.5(ADAR):c.3255_3256del (p.Asp1087fs)
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu) rs387906589
NM_001111125.3(IQSEC2):c.2052_2053del (p.Cys684_Glu685delinsTer) rs797044889
NM_001111125.3(IQSEC2):c.2078del (p.Gly693fs)
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter) rs587777261
NM_001111125.3(IQSEC2):c.2582G>C (p.Ser861Thr) rs797044932
NM_001111125.3(IQSEC2):c.321_322del (p.Phe107fs)
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_001111125.3(IQSEC2):c.848dup (p.Ala286fs) rs782660318
NM_001111125.3(IQSEC2):c.880C>T (p.Gln294Ter)
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn) rs387907225
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001123385.2(BCOR):c.2428C>T (p.Arg810Ter) rs1555918056
NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs) rs886042842
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs) rs754378340
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
NM_001127178.3(PIGG):c.1087C>T (p.Gln363Ter)
NM_001127222.2(CACNA1A):c.1634dup (p.Tyr545Ter) rs1568523843
NM_001127222.2(CACNA1A):c.1912C>T (p.Gln638Ter) rs1555758842
NM_001127222.2(CACNA1A):c.1922del (p.Phe641fs) rs1568518139
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter) rs767534576
NM_001127222.2(CACNA1A):c.2785_2786insT (p.His929fs) rs1555756091
NM_001127222.2(CACNA1A):c.2806C>T (p.Gln936Ter) rs1318353774
NM_001127222.2(CACNA1A):c.3103dup (p.Ser1035fs) rs1131691712
NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs) rs2057373332
NM_001127222.2(CACNA1A):c.3822+1G>A rs794727355
NM_001127222.2(CACNA1A):c.3979_3983delinsCCACTTCACTTA (p.Phe1327fs)
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.5529-1212_5529-1211del rs1431092862
NM_001127222.2(CACNA1A):c.5884del (p.Met1962fs)
NM_001127222.2(CACNA1A):c.6368del (p.Arg2123fs) rs1555730902
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127392.3(MYRF):c.1207C>T (p.Gln403Ter)
NM_001127392.3(MYRF):c.2041del (p.Ala681fs) rs2066476444
NM_001127392.3(MYRF):c.2358_2359del (p.Tyr787fs) rs2066505057
NM_001127644.2(GABRA1):c.146T>A (p.Leu49His)
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127898.4(CLCN5):c.1374del (p.Phe459fs) rs1557194018
NM_001127898.4(CLCN5):c.328del (p.Ser110fs) rs1933254254
NM_001128.6(AP1G1):c.2080C>T (p.Gln694Ter)
NM_001128126.3(AP4S1):c.138+3_138+6del rs876661295
NM_001128126.3(AP4S1):c.229G>T (p.Glu77Ter) rs568176223
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128840.3(CACNA1D):c.3964C>T (p.Arg1322Ter)
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001134407.3(GRIN2A):c.1509del (p.Gln503fs)
NM_001134407.3(GRIN2A):c.1532C>A (p.Ser511Ter)
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) rs869312916
NM_001134407.3(GRIN2A):c.2143del (p.Asp715fs) rs2042301516
NM_001134407.3(GRIN2A):c.96dup (p.Ala33fs) rs1555491538
NM_001134665.3(TRMT10A):c.616G>A (p.Gly206Arg) rs587777744
NM_001134673.4(NFIA):c.1076-1G>A rs1553182933
NM_001134673.4(NFIA):c.1145_1148del (p.Tyr382fs) rs1553182964
NM_001134673.4(NFIA):c.307dup (p.Cys103fs) rs1553149206
NM_001134673.4(NFIA):c.374_375del (p.Lys125fs) rs1646260006
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001135629.3(PPP1R21):c.415G>T (p.Glu139Ter)
NM_001136035.4(TRMT1):c.1110dup (p.Lys371fs)
NM_001136035.4(TRMT1):c.619C>T (p.Gln207Ter)
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys) rs879255271
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001142864.4(PIEZO1):c.4275_4278del (p.Ser1425fs) rs1904304634
NM_001145358.2(SIN3A):c.1363del (p.Ala455fs)
NM_001145358.2(SIN3A):c.1576del (p.Glu526fs) rs2073399686
NM_001145358.2(SIN3A):c.1657C>T (p.Arg553Ter) rs1555444885
NM_001145358.2(SIN3A):c.2478_2479del (p.Gln827fs) rs1555443682
NM_001145358.2(SIN3A):c.2925_2928dup (p.Ser977fs) rs2073161466
NM_001145358.2(SIN3A):c.2937T>A (p.Tyr979Ter)
NM_001145358.2(SIN3A):c.3314dup (p.Tyr1105Ter)
NM_001145358.2(SIN3A):c.346C>T (p.Gln116Ter) rs2073858956
NM_001145358.2(SIN3A):c.3481_3482delinsT (p.Ser1161fs)
NM_001145860.2(POP1):c.1195dup (p.Ile399fs)
NM_001148.6(ANK2):c.10924C>T (p.Arg3642Ter) rs757033443
NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter) rs2092061253
NM_001151.4(SLC25A4):c.239G>A (p.Arg80His) rs886041081
NM_001160372.4(TRAPPC9):c.2729del (p.Val910fs) rs1837435094
NM_001162501.2(TNRC6B):c.1813C>T (p.Gln605Ter)
NM_001162501.2(TNRC6B):c.2137C>T (p.Arg713Ter) rs1191287768
NM_001162501.2(TNRC6B):c.2247G>A (p.Trp749Ter) rs200598254
NM_001162501.2(TNRC6B):c.3811C>T (p.Gln1271Ter) rs2071009325
NM_001162501.2(TNRC6B):c.4120+1G>T
NM_001163435.3(TBCK):c.1731C>G (p.Tyr577Ter)
NM_001163435.3(TBCK):c.2091dup (p.Ile698fs) rs1750971659
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer) rs794727136
NM_001164508.2(NEB):c.8470dup (p.Ala2824fs)
NM_001165963.4(SCN1A):c.1027G>C (p.Gly343Arg)
NM_001165963.4(SCN1A):c.1118T>A (p.Leu373Ter) rs1553547448
NM_001165963.4(SCN1A):c.1134_1147dup (p.Phe383Ter) rs1698001843
NM_001165963.4(SCN1A):c.1200_1202del (p.Met400del)
NM_001165963.4(SCN1A):c.1273del (p.Ala425fs) rs1553546836
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2580_2584del (p.Phe861fs)
NM_001165963.4(SCN1A):c.2872dup (p.Asp958fs)
NM_001165963.4(SCN1A):c.3217dup (p.Leu1073fs)
NM_001165963.4(SCN1A):c.3292del (p.Asp1098fs) rs1553540213
NM_001165963.4(SCN1A):c.3358G>T (p.Gly1120Ter)
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter) rs794726720
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3706-1G>A
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3813G>A (p.Trp1271Ter)
NM_001165963.4(SCN1A):c.383+1A>G rs794726803
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4013A>C (p.Asn1338Thr) rs797044952
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4301G>A (p.Trp1434Ter) rs1559122263
NM_001165963.4(SCN1A):c.4338+1G>C rs1553523138
NM_001165963.4(SCN1A):c.4384T>C (p.Tyr1462His) rs1559119345
NM_001165963.4(SCN1A):c.4450_4453del (p.Asp1484fs) rs1559118996
NM_001165963.4(SCN1A):c.4521C>A (p.Tyr1507Ter) rs750997506
NM_001165963.4(SCN1A):c.4521C>G (p.Tyr1507Ter) rs750997506
NM_001165963.4(SCN1A):c.474-2A>G
NM_001165963.4(SCN1A):c.4852+1G>A rs1573962555
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val) rs794726839
NM_001165963.4(SCN1A):c.5479A>T (p.Lys1827Ter) rs1553520105
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.655dup (p.Arg219fs)
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.812del (p.Gly271fs) rs1553549717
NM_001165963.4(SCN1A):c.962C>G (p.Ser321Ter) rs2105888495
NM_001165963.4(SCN1A):c.965-1G>A rs794726824
NM_001166114.2(PNPLA6):c.1211dup (p.Leu405fs) rs765307463
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001170629.1(CHD8):c.5053delG
NM_001170629.2(CHD8):c.1727C>A (p.Ser576Ter) rs1888700404
NM_001170629.2(CHD8):c.2831_2835del (p.Cys944fs) rs797044853
NM_001170629.2(CHD8):c.3322dup (p.Ile1108fs) rs1157888951
NM_001170629.2(CHD8):c.3686C>A (p.Ser1229Ter) rs1555314895
NM_001170629.2(CHD8):c.3882+1G>A rs1555314736
NM_001170629.2(CHD8):c.4384C>T (p.Arg1462Ter)
NM_001170629.2(CHD8):c.4414C>T (p.Arg1472Ter) rs991738444
NM_001170629.2(CHD8):c.463_466del (p.Ser155fs) rs1555318633
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter) rs1555314211
NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter) rs1555313934
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs) rs774152851
NM_001170629.2(CHD8):c.6649C>T (p.Arg2217Ter) rs1555313048
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1174-1G>A rs1688108762
NM_001172509.2(SATB2):c.1196del (p.Arg399fs) rs1553547906
NM_001172509.2(SATB2):c.1311_1314dup (p.Arg439fs) rs1559164234
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.1477C>T (p.Gln493Ter) rs1687959307
NM_001172509.2(SATB2):c.1606G>T (p.Glu536Ter)
NM_001172509.2(SATB2):c.1728del (p.Glu577fs) rs1687511235
NM_001172509.2(SATB2):c.1795G>T (p.Glu599Ter)
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs) rs1692192971
NM_001172509.2(SATB2):c.1825_1826dup (p.Asp609fs)
NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter) rs1559052032
NM_001172509.2(SATB2):c.808_809del (p.Gln270fs) rs1553551705
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter) rs797044874
NM_001172509.2(SATB2):c.868C>T (p.Gln290Ter) rs1057518496
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001174150.2(ARL13B):c.274dup (p.Val92fs)
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs) rs758414053
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs) rs778003597
NM_001184.4(ATR):c.5851C>T (p.Arg1951Ter) rs758234545
NM_001184.4(ATR):c.6430C>T (p.Gln2144Ter)
NM_001184880.2(PCDH19):c.1006dup (p.Val336fs) rs1555985372
NM_001184880.2(PCDH19):c.1018A>T (p.Asn340Tyr) rs1555985368
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485
NM_001184880.2(PCDH19):c.2675+1G>A
NM_001184880.2(PCDH19):c.372_373dup (p.Asn125fs) rs1569315950
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.582del (p.Ser195fs)
NM_001184880.2(PCDH19):c.768dup (p.Val257fs) rs1569315508
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156
NM_001190274.2(FBXO11):c.592C>T (p.Arg198Ter)
NM_001190737.2(NFIB):c.373_376del (p.Asp125fs) rs2132702633
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) rs1055318738
NM_001195553.2(DCX):c.-22-345_326del
NM_001195553.2(DCX):c.115C>T (p.Arg39Ter) rs587783519
NM_001195553.2(DCX):c.814C>T (p.Arg272Ter) rs587783590
NM_001195553.2(DCX):c.871C>T (p.Gln291Ter)
NM_001197104.2(KMT2A):c.10754+1G>A
NM_001197104.2(KMT2A):c.11280del (p.Pro3760_Leu3761insTer) rs1555052879
NM_001197104.2(KMT2A):c.11530dup (p.Arg3844fs) rs1555053483
NM_001197104.2(KMT2A):c.134del (p.Pro45fs) rs1555138529
NM_001197104.2(KMT2A):c.1522G>T (p.Glu508Ter) rs781978013
NM_001197104.2(KMT2A):c.166_167insA (p.Ser56fs) rs1949187852
NM_001197104.2(KMT2A):c.173del (p.Pro58fs) rs1555138552
NM_001197104.2(KMT2A):c.1868del (p.Lys623fs) rs797044937
NM_001197104.2(KMT2A):c.2193del (p.Ser732fs) rs1555036394
NM_001197104.2(KMT2A):c.2262del (p.Ser754_Met755insTer) rs1555036436
NM_001197104.2(KMT2A):c.2318del (p.Pro773fs) rs782297546
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.2(KMT2A):c.308del (p.Pro103fs) rs1949193924
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001197104.2(KMT2A):c.3373_3374del (p.Leu1125fs) rs1950069134
NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter) rs868985556
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.2(KMT2A):c.3570-2A>G rs1950106219
NM_001197104.2(KMT2A):c.3651_3652del (p.Lys1219fs) rs1555039242
NM_001197104.2(KMT2A):c.3724C>T (p.Gln1242Ter) rs1950137753
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) rs1555039343
NM_001197104.2(KMT2A):c.3889C>T (p.Gln1297Ter)
NM_001197104.2(KMT2A):c.3896_3908del (p.Ser1299fs)
NM_001197104.2(KMT2A):c.4029del (p.Lys1343fs) rs1555039606
NM_001197104.2(KMT2A):c.4331_4332dup (p.Phe1445fs) rs1555040480
NM_001197104.2(KMT2A):c.4504C>T (p.Arg1502Ter) rs150800017
NM_001197104.2(KMT2A):c.5251A>T (p.Lys1751Ter) rs886041896
NM_001197104.2(KMT2A):c.5656del (p.Ser1886fs) rs1950408951
NM_001197104.2(KMT2A):c.5665-2A>G
NM_001197104.2(KMT2A):c.6487C>T (p.Arg2163Ter) rs1555045816
NM_001197104.2(KMT2A):c.6504del (p.Gly2169fs)
NM_001197104.2(KMT2A):c.7150C>T (p.Gln2384Ter) rs1555046404
NM_001197104.2(KMT2A):c.7187_7191dup (p.Glu2398fs) rs1555046428
NM_001197104.2(KMT2A):c.7497del (p.Val2500fs) rs1555046615
NM_001197104.2(KMT2A):c.766del (p.Ile256fs) rs1565278132
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter) rs1950540436
NM_001197104.2(KMT2A):c.835_838del (p.Ser279fs) rs1949950865
NM_001197104.2(KMT2A):c.8407C>T (p.Gln2803Ter)
NM_001197104.2(KMT2A):c.9112_9115del (p.Val3038fs) rs1555047506
NM_001198800.3(ASCC1):c.251dup (p.Glu85fs) rs1856787943
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter) rs2065771024
NM_001199107.2(TBC1D24):c.352del (p.Leu118fs)
NM_001199107.2(TBC1D24):c.404del (p.Pro135fs)
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199198.3(TBC1D23):c.1029C>A (p.Cys343Ter) rs761061399
NM_001202.6(BMP4):c.592C>T (p.Arg198Ter) rs387906597
NM_001206999.2(CIT):c.3532C>T (p.Arg1178Ter)
NM_001206999.2(CIT):c.5515C>T (p.Arg1839Ter)
NM_001211.6(BUB1B):c.2328dup (p.Asp777fs) rs767768253
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001242896.3(DEPDC5):c.1218-1G>A rs2087504321
NM_001242896.3(DEPDC5):c.1310del (p.Asn437fs) rs2088008490
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.1964_1965del (p.Ser655fs) rs1372605067
NM_001242896.3(DEPDC5):c.3155+5G>A
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001242896.3(DEPDC5):c.4287C>G (p.Tyr1429Ter) rs1569232705
NM_001242896.3(DEPDC5):c.793_797del (p.Glu265fs) rs1601925213
NM_001242896.3(DEPDC5):c.903del (p.Ala302fs)
NM_001243279.3(ACSF3):c.803del (p.Pro268fs) rs767946490
NM_001244008.2(KIF1A):c.350G>T (p.Gly117Val) rs1200817308
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys) rs1553637932
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer) rs1553259463
NM_001256012.3(MYH10):c.2815G>T (p.Glu939Ter) rs797044880
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs) rs1557047954
NM_001256627.2(BRSK2):c.1301_1307dup (p.Arg437fs)
NM_001256627.2(BRSK2):c.1535C>A (p.Ser512Ter)
NM_001256627.2(BRSK2):c.696_697del (p.Phe233fs)
NM_001256627.2(BRSK2):c.978-1G>C
NM_001257180.2(SLC20A2):c.411G>A (p.Trp137Ter)
NM_001257180.2(SLC20A2):c.51_54dup (p.Ile19fs) rs1554561128
NM_001257293.2(HNRNPH1):c.616C>T (p.Arg206Trp) rs1770718566
NM_001258392.3(CLPB):c.1066+1G>A rs1555087619
NM_001258392.3(CLPB):c.1165G>T (p.Glu389Ter)
NM_001267550.2(TTN):c.105486del (p.Trp35162fs) rs1553485330
NM_001267550.2(TTN):c.58567_58568dup (p.Lys19524fs) rs1553650442
NM_001271.4(CHD2):c.1417C>T (p.Gln473Ter)
NM_001271.4(CHD2):c.2221del (p.Ala741fs)
NM_001271.4(CHD2):c.2410C>T (p.Arg804Ter)
NM_001271.4(CHD2):c.3787dup (p.Val1263fs) rs869312877
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter) rs1555444702
NM_001271.4(CHD2):c.443+1G>A rs2141755359
NM_001271.4(CHD2):c.4601G>A (p.Trp1534Ter) rs1567163701
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs) rs1555445685
NM_001271.4(CHD2):c.4841dup (p.Gln1615fs) rs2054437773
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.522dup (p.Val175fs)
NM_001271.4(CHD2):c.592C>T (p.Gln198Ter)
NM_001271.4(CHD2):c.613C>T (p.Gln205Ter) rs2053325154
NM_001271838.2(RSRC1):c.194+1G>A rs746219497
NM_001271838.2(RSRC1):c.495-2A>G rs1727334508
NM_001271893.4(TWIST2):c.223G>A (p.Glu75Lys) rs1553565140
NM_001272071.2(AP1S2):c.68C>G (p.Ser23Ter)
NM_001273.5(CHD4):c.3203G>A (p.Arg1068His) rs886039915
NM_001273.5(CHD4):c.3518G>A (p.Arg1173Gln) rs886039918
NM_001273.5(CHD4):c.3547C>T (p.Arg1183Cys) rs2136209158
NM_001278116.2(L1CAM):c.3214C>T (p.Gln1072Ter)
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_001278716.2(FBXL4):c.397C>T (p.Gln133Ter)
NM_001278716.2(FBXL4):c.827del (p.Asn276fs) rs1240941970
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter) rs1555810308
NM_001282531.3(ADNP):c.1620_1630dup (p.Thr544fs) rs1980973531
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter) rs779340209
NM_001282531.3(ADNP):c.2287del (p.Ser763fs) rs1555809919
NM_001282531.3(ADNP):c.2287dup (p.Ser763fs) rs1555809919
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.2498_2499del (p.Lys833fs) rs1555809836
NM_001282531.3(ADNP):c.2499del (p.Val834fs) rs1555809836
NM_001282531.3(ADNP):c.331del (p.Tyr111fs) rs1981170986
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001287.6(CLCN7):c.889G>A (p.Val297Met) rs769080435
NM_001287491.2(TET3):c.2234_2235del (p.Pro745fs) rs1687748823
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter) rs917027829
NM_001288705.3(CSF1R):c.554del (p.Lys185fs)
NM_001291415.2(KDM6A):c.1015C>T (p.Gln339Ter) rs1556308480
NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter) rs397514628
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter) rs2044403163
NM_001291415.2(KDM6A):c.2231_2232del (p.Gln744fs) rs1556328723
NM_001291867.2(NHS):c.1231C>T (p.Gln411Ter) rs1556038028
NM_001291867.2(NHS):c.3245del (p.Pro1082fs) rs1556039406
NM_001292034.3(TAB2):c.253_254del (p.Gln85fs) rs1781468348
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001303052.2(MYT1L):c.2670_2671del (p.Ser891fs)
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) rs864309504
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys) rs1602510200
NM_001318852.2(MAPK8IP3):c.2919G>A (p.Trp973Ter) rs755287045
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys) rs1567214097
NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter) rs1085307703
NM_001320.7(CSNK2B):c.245T>A (p.Leu82Ter) rs1801960712
NM_001320.7(CSNK2B):c.446C>G (p.Ser149Ter)
NM_001320.7(CSNK2B):c.464_467del (p.Asp155fs)
NM_001320.7(CSNK2B):c.495_496del (p.Met166fs) rs2151188957
NM_001320.7(CSNK2B):c.72+1G>A rs1801761541
NM_001321075.3(DLG4):c.1240del (p.Ser414fs)
NM_001321075.3(DLG4):c.1546C>T (p.Arg516Ter) rs778104648
NM_001321075.3(DLG4):c.193G>T (p.Glu65Ter) rs2142888007
NM_001321075.3(DLG4):c.335+1G>A
NM_001321075.3(DLG4):c.937C>T (p.Arg313Ter)
NM_001323289.2(CDKL5):c.1107_1120del (p.Gly369_Asn370insTer) rs1555951954
NM_001323289.2(CDKL5):c.1165C>T (p.Gln389Ter) rs1569219346
NM_001323289.2(CDKL5):c.1211_1212dup (p.Leu405fs) rs1555951981
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter) rs1926301954
NM_001323289.2(CDKL5):c.1994_1995del (p.Lys665fs)
NM_001323289.2(CDKL5):c.205C>T (p.Gln69Ter)
NM_001323289.2(CDKL5):c.2152+1G>A rs1555952732
NM_001323289.2(CDKL5):c.2216del (p.Leu739fs)
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.464-2A>G rs267608480
NM_001323289.2(CDKL5):c.514G>A (p.Val172Ile) rs797044858
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.666del (p.Ile223fs) rs1569215645
NM_001329943.3(KIAA0586):c.4133_4138delinsAA (p.Pro1378fs)
NM_001330078.2(NRXN1):c.2792del (p.Phe931fs) rs1388095672
NM_001330260.2(SCN8A):c.1402del (p.Glu468fs)
NM_001330260.2(SCN8A):c.1965del (p.Gly656fs) rs1352024223
NM_001330260.2(SCN8A):c.2023_2029dup (p.Gly677fs) rs1565908565
NM_001330260.2(SCN8A):c.2169G>A (p.Trp723Ter)
NM_001330260.2(SCN8A):c.2460dup (p.Asp821Ter) rs1565915356
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2936C>T (p.Ser979Phe) rs1555226081
NM_001330260.2(SCN8A):c.3448C>T (p.Gln1150Ter) rs1555226280
NM_001330260.2(SCN8A):c.4189_4208del (p.Asp1397fs) rs1565925940
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4412del (p.Lys1471fs) rs1938179478
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4859G>T (p.Arg1620Leu) rs869312966
NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp) rs1555230924
NM_001330311.2(DVL1):c.1579del (p.His527fs) rs1553173425
NM_001346249.2(RALGAPA1):c.5455C>T (p.Gln1819Ter)
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001347721.2(DYRK1A):c.1003dup (p.Met335fs) rs1555985620
NM_001347721.2(DYRK1A):c.1008G>A (p.Trp336Ter) rs1555985642
NM_001347721.2(DYRK1A):c.1218C>G (p.Tyr406Ter)
NM_001347721.2(DYRK1A):c.1239del (p.Lys413fs) rs1555990751
NM_001347721.2(DYRK1A):c.1275dup (p.Gly426fs) rs1555990816
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.197dup (p.Thr67fs)
NM_001347721.2(DYRK1A):c.262del (p.Ser88fs)
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) rs797044523
NM_001347721.2(DYRK1A):c.489+2T>C rs2052613493
NM_001347721.2(DYRK1A):c.531_532dup (p.Ile178fs) rs1555982591
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.638-1G>T rs2148612254
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs) rs1555984102
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001347721.2(DYRK1A):c.803del (p.Ala268fs) rs1555984304
NM_001348323.3(TRIP12):c.3490dup (p.Ile1164fs) rs2043184881
NM_001348323.3(TRIP12):c.3984_3985del (p.Gly1329fs) rs1553610329
NM_001348323.3(TRIP12):c.4415+5G>A rs2041634150
NM_001348323.3(TRIP12):c.486del (p.Gln162fs) rs1553704696
NM_001348323.3(TRIP12):c.5191_5194del (p.Thr1731fs) rs1553591922
NM_001348323.3(TRIP12):c.5905_5908delinsATATGGTATATTTACTT (p.Arg1969fs)
NM_001348716.2(KDM6B):c.1984_1990dup (p.Pro664fs)
NM_001348716.2(KDM6B):c.4388G>A (p.Trp1463Ter)
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln) rs878854416
NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp) rs878854417
NM_001348800.3(ZBTB20):c.1256dup (p.Gly420fs) rs1553794464
NM_001348800.3(ZBTB20):c.1412dup (p.Ser472fs)
NM_001348800.3(ZBTB20):c.1869G>C (p.Lys623Asn) rs1553789275
NM_001348800.3(ZBTB20):c.329dup (p.His111fs) rs2080691379
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs) rs797044652
NM_001349338.3(FOXP1):c.1506C>G (p.Phe502Leu) rs1057524152
NM_001349338.3(FOXP1):c.1507del (p.Arg503fs) rs1553667322
NM_001349338.3(FOXP1):c.1531-9_1534dup rs2036514016
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001349338.3(FOXP1):c.1547_1552del (p.Asn516_Leu517del)
NM_001349338.3(FOXP1):c.1569del (p.Phe523fs) rs2036507371
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001349338.3(FOXP1):c.1652+5G>C rs794727216
NM_001349338.3(FOXP1):c.529C>T (p.Gln177Ter) rs1559807265
NM_001349338.3(FOXP1):c.598C>T (p.Gln200Ter) rs1553709919
NM_001349999.2(RBFOX2):c.523dup (p.Ser175fs) rs1555902810
NM_001352027.3(PHF21A):c.1032_1035del (p.Thr345fs) rs2092369866
NM_001352027.3(PHF21A):c.1171C>T (p.Arg391Ter) rs1554988946
NM_001352027.3(PHF21A):c.1230dup (p.Lys411Ter)
NM_001352027.3(PHF21A):c.602_603del (p.Thr201fs)
NM_001352514.2(HLCS):c.2140A>T (p.Lys714Ter)
NM_001353108.3(CEP63):c.448del (p.Arg150fs) rs1266747910
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter) rs120074162
NM_001353345.2(SETD1B):c.22dup (p.His8fs)
NM_001353345.2(SETD1B):c.3367del (p.Asp1123fs)
NM_001353345.2(SETD1B):c.773del (p.Tyr258fs)
NM_001353921.2(ARHGEF9):c.415C>T (p.Gln139Ter)
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys) rs1602446549
NM_001353921.2(ARHGEF9):c.875del (p.Asn292fs) rs2050117690
NM_001356.5(DDX3X):c.1047dup (p.Asp350Ter)
NM_001356.5(DDX3X):c.1071_1170+24del rs2063908023
NM_001356.5(DDX3X):c.1190_1196del (p.Leu397fs) rs2063910538
NM_001356.5(DDX3X):c.1228_1247del (p.Ser410fs)
NM_001356.5(DDX3X):c.1276_1279del (p.Asp426fs) rs1555953882
NM_001356.5(DDX3X):c.1298_1299dup (p.Leu434fs) rs2063911610
NM_001356.5(DDX3X):c.1423C>G (p.Arg475Gly) rs1064794574
NM_001356.5(DDX3X):c.1429C>T (p.Gln477Ter) rs1555954105
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val) rs796052236
NM_001356.5(DDX3X):c.1498-2A>G rs1131691608
NM_001356.5(DDX3X):c.151+1G>A rs2147343930
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.1601dup (p.Val535fs) rs1555954287
NM_001356.5(DDX3X):c.1696_1697del (p.Glu566fs)
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.5(DDX3X):c.1769+1G>A rs1555954414
NM_001356.5(DDX3X):c.1806C>G (p.Tyr602Ter) rs2063939905
NM_001356.5(DDX3X):c.233C>G (p.Ser78Ter) rs886041589
NM_001356.5(DDX3X):c.275dup (p.Arg93fs)
NM_001356.5(DDX3X):c.284+1G>C rs1555952710
NM_001356.5(DDX3X):c.380G>A (p.Trp127Ter) rs2063866727
NM_001356.5(DDX3X):c.3G>C (p.Met1Ile) rs1555950665
NM_001356.5(DDX3X):c.404_407del (p.Asp135fs)
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
NM_001356.5(DDX3X):c.616G>A (p.Val206Met) rs1555953166
NM_001356.5(DDX3X):c.721C>T (p.Gln241Ter)
NM_001356.5(DDX3X):c.865-1G>C rs1255183431
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001356.5(DDX3X):c.977G>A (p.Arg326His) rs797045025
NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) rs1591107040
NM_001360.3(DHCR7):c.422del (p.Asn141fs)
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_001360016.2(G6PD):c.1088A>T (p.Asn363Ile) rs1557229736
NM_001363711.2(DUOX2):c.1395_1396del (p.Gln466fs)
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001365088.1(SLC12A6):c.620G>A (p.Arg207His) rs1555381416
NM_001365276.2(TNXB):c.1878del (p.His626fs) rs1554334255
NM_001365536.1(SCN9A):c.1124_1126delinsCC (p.Gly375fs)
NM_001365536.1(SCN9A):c.2424G>A (p.Trp808Ter) rs769971743
NM_001365536.1(SCN9A):c.3995G>A (p.Trp1332Ter) rs1553479216
NM_001365536.1(SCN9A):c.829C>T (p.Arg277Ter) rs121908916
NM_001365902.3(NFIX):c.1180del (p.His394fs) rs1555707363
NM_001365902.3(NFIX):c.154G>T (p.Glu52Ter) rs1555696499
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_001365902.3(NFIX):c.559+1G>A rs1057518152
NM_001365999.1(SZT2):c.2435_2436del (p.Leu812fs) rs1652887200
NM_001365999.1(SZT2):c.2621dup (p.His875fs)
NM_001365999.1(SZT2):c.4249_4250del (p.Leu1417fs)
NM_001365999.1(SZT2):c.5113del (p.Met1705fs)
NM_001365999.1(SZT2):c.8062C>T (p.Arg2688Ter) rs1394131270
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001367561.1(DOCK7):c.4138C>T (p.Arg1380Ter) rs1479675678
NM_001367721.1(CASK):c.1015+1G>C rs1569350501
NM_001367721.1(CASK):c.1A>G (p.Met1Val)
NM_001367721.1(CASK):c.2065A>T (p.Lys689Ter) rs1555977248
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001367721.1(CASK):c.845dup (p.Tyr282Ter) rs1556004104
NM_001367873.1(SOX6):c.1038del (p.Phe346fs)
NM_001367873.1(SOX6):c.1083C>G (p.Tyr361Ter)
NM_001367873.1(SOX6):c.170del (p.Pro57fs)
NM_001367873.1(SOX6):c.706C>T (p.Gln236Ter) rs1851490729
NM_001367943.1(TCF7L2):c.1180G>T (p.Glu394Ter)
NM_001367943.1(TCF7L2):c.755_762del (p.Gln252fs)
NM_001368894.2(PAX6):c.1225+1G>T rs1554982537
NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter) rs1554985028
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001369.3(DNAH5):c.8869del (p.Val2957fs) rs1580203399
NM_001369268.1(ACAN):c.1227del (p.Ser410fs) rs1555454560
NM_001369268.1(ACAN):c.2743del (p.Glu915fs)
NM_001369268.1(ACAN):c.361C>T (p.Gln121Ter)
NM_001369268.1(ACAN):c.5337del (p.Phe1780fs) rs1897097454
NM_001369268.1(ACAN):c.5491_5500del (p.Phe1831fs) rs1897102163
NM_001370100.5(ZMYND11):c.1072C>T (p.Arg358Ter) rs1554792556
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001370100.5(ZMYND11):c.701_704del (p.Asp234fs)
NM_001370100.5(ZMYND11):c.740dup (p.Asp247fs) rs1950618250
NM_001370298.3(FGD4):c.2104del (p.Cys702fs)
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001371279.1(REEP1):c.327del (p.Ala110fs)
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001371596.2(MFSD8):c.863+1G>A rs200319160
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001371928.1(AHDC1):c.1433del (p.Met478fs) rs2019490062
NM_001371928.1(AHDC1):c.1551del (p.Thr518fs) rs2019482037
NM_001371928.1(AHDC1):c.1910dup (p.Cys637fs) rs2019459021
NM_001371928.1(AHDC1):c.2188G>T (p.Glu730Ter) rs2019433712
NM_001371928.1(AHDC1):c.3032C>A (p.Ser1011Ter) rs2019363981
NM_001371928.1(AHDC1):c.3474dup (p.Val1159fs)
NM_001371928.1(AHDC1):c.4547del (p.Lys1516fs) rs2019237217
NM_001372044.2(SHANK3):c.1619_1629dup (p.Ser544fs)
NM_001372044.2(SHANK3):c.2452_2453del (p.Arg818fs) rs2083233502
NM_001372044.2(SHANK3):c.2478del (p.Ala827fs) rs2083233723
NM_001372044.2(SHANK3):c.3977_3989del (p.Leu1326fs) rs1555910182
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) rs886041238
NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter) rs1064795759
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs) rs1603447373
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter) rs1569097392
NM_001372066.1(TFAP2A):c.716G>A (p.Arg239Gln) rs151344525
NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp) rs151344528
NM_001372066.1(TFAP2A):c.769A>T (p.Arg257Trp) rs121909574
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val) rs151344531
NM_001372076.1(PAX9):c.464_465dup (p.Tyr156fs) rs1555316743
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_001374353.1(GLI2):c.1597dup (p.Arg533fs) rs1553477189
NM_001374353.1(GLI2):c.1718del (p.Gly573fs)
NM_001374353.1(GLI2):c.322del (p.Ala108fs) rs1553471273
NM_001374353.1(GLI2):c.562del (p.Ala188fs) rs869312965
NM_001374736.1(DST):c.12067C>T (p.Gln4023Ter)
NM_001374736.1(DST):c.12295G>T (p.Glu4099Ter)
NM_001374736.1(DST):c.12924_12927delinsTA (p.Ser4309fs)
NM_001374736.1(DST):c.13478del (p.Phe4492_Leu4493insTer)
NM_001374736.1(DST):c.15158_15159del (p.Gln5053fs)
NM_001374736.1(DST):c.15529del (p.Thr5177fs)
NM_001374736.1(DST):c.16565_16566del (p.Gly5522fs)
NM_001374736.1(DST):c.21985C>T (p.Arg7329Ter) rs2152403168
NM_001374736.1(DST):c.2989C>T (p.Gln997Ter)
NM_001374828.1(ARID1B):c.1293_1311del (p.Gly434fs) rs943407609
NM_001374828.1(ARID1B):c.1293_1314del (p.Gly434fs) rs1778945620
NM_001374828.1(ARID1B):c.1625_1632dup (p.Ala545fs)
NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs) rs1131691339
NM_001374828.1(ARID1B):c.1641_1651del (p.Gln550fs) rs1131691706
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter) rs1779032666
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter) rs1057518951
NM_001374828.1(ARID1B):c.1867C>T (p.Gln623Ter) rs1554256703
NM_001374828.1(ARID1B):c.1923T>G (p.Tyr641Ter) rs1782980450
NM_001374828.1(ARID1B):c.2581+2T>C rs1786833331
NM_001374828.1(ARID1B):c.2886del (p.Ala963fs) rs1789979659
NM_001374828.1(ARID1B):c.3038dup (p.Glu1014fs) rs1554226131
NM_001374828.1(ARID1B):c.3053dup (p.Val1019fs)
NM_001374828.1(ARID1B):c.3345+1G>A rs1791922830
NM_001374828.1(ARID1B):c.3552C>G (p.Tyr1184Ter) rs758570139
NM_001374828.1(ARID1B):c.3581_3585delinsCAGA (p.Leu1194fs) rs1562328476
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter) rs387907144
NM_001374828.1(ARID1B):c.3746del (p.Ala1249fs) rs1554231814
NM_001374828.1(ARID1B):c.3926C>A (p.Ser1309Ter) rs1321954955
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.4050del (p.Gly1351fs) rs1793228690
NM_001374828.1(ARID1B):c.4058+1G>A
NM_001374828.1(ARID1B):c.4146dup (p.Tyr1383fs) rs1793251352
NM_001374828.1(ARID1B):c.4362T>A (p.Tyr1454Ter) rs1554234424
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter) rs773740590
NM_001374828.1(ARID1B):c.4441dup (p.Tyr1481fs)
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.4540_4541del (p.Met1514fs) rs797044859
NM_001374828.1(ARID1B):c.4550del (p.Met1517fs)
NM_001374828.1(ARID1B):c.4689del (p.His1564fs)
NM_001374828.1(ARID1B):c.4839C>G (p.Tyr1613Ter) rs1554235792
NM_001374828.1(ARID1B):c.4940C>A (p.Ser1647Ter) rs867707366
NM_001374828.1(ARID1B):c.5028del (p.Ser1678fs)
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter) rs1554236040
NM_001374828.1(ARID1B):c.5257dup (p.Asp1753fs) rs1554236054
NM_001374828.1(ARID1B):c.5315del (p.Ala1772fs) rs1794278792
NM_001374828.1(ARID1B):c.5469del (p.Glu1823fs) rs1554237050
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.5955dup (p.Gly1986fs) rs1562352435
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001374828.1(ARID1B):c.6181C>T (p.Gln2061Ter) rs1554237689
NM_001374828.1(ARID1B):c.6193del (p.Ala2065fs) rs1794509686
NM_001374828.1(ARID1B):c.6408G>A (p.Trp2136Ter) rs1554237848
NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter) rs1554238035
NM_001374828.1(ARID1B):c.6713T>G (p.Leu2238Ter)
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001374828.1(ARID1B):c.6823C>T (p.Gln2275Ter) rs1554238093
NM_001374828.1(ARID1B):c.6916C>T (p.Gln2306Ter) rs1308155037
NM_001374828.1(ARID1B):c.966_979delinsG (p.Ala323fs) rs1554247637
NM_001375380.1(EBF3):c.1081C>T (p.Gln361Ter) rs1850628942
NM_001375380.1(EBF3):c.289_291+1del rs1859684230
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001375380.1(EBF3):c.537_544del (p.Pro180fs)
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
NM_001375380.1(EBF3):c.634C>T (p.Gln212Ter) rs1852896440
NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter) rs1064796669
NM_001376.5(DYNC1H1):c.10033G>A (p.Glu3345Lys) rs797044928
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser) rs1555408829
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln) rs797044901
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.9754AAG[2] (p.Lys3254del) rs797044918
NM_001376571.1(MADD):c.4392_4395del (p.Cys1464fs)
NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His) rs397514481
NM_001377304.1(GFI1B):c.784G>A (p.Asp262Asn) rs1554724691
NM_001378120.1(MBD5):c.4819G>T (p.Glu1607Ter)
NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter) rs1293936199
NM_001378120.1(MBD5):c.74_83del (p.Trp25fs)
NM_001378120.1(MBD5):c.75G>A (p.Trp25Ter) rs1553517456
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val) rs587777453
NM_001378183.1(PIEZO2):c.3780del (p.Cys1260fs) rs1555639568
NM_001378183.1(PIEZO2):c.4453del (p.Ile1484_Val1485insTer) rs2037335667
NM_001378183.1(PIEZO2):c.7911del (p.Asn2638fs) rs745895175
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu) rs1064797002
NM_001378418.1(TCF20):c.2224C>T (p.Arg742Ter) rs1555926209
NM_001378418.1(TCF20):c.2685del (p.Arg896fs) rs1555925903
NM_001378418.1(TCF20):c.2786_2787del (p.Lys929fs) rs1921088321
NM_001378418.1(TCF20):c.4368del (p.Gly1457fs) rs1555924435
NM_001378418.1(TCF20):c.5069dup (p.Pro1692fs) rs1555923822
NM_001378418.1(TCF20):c.5719del (p.Arg1907fs) rs1936673622
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001378452.1(ITPR1):c.7828AAG[1] (p.Lys2611del) rs878853175
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378778.1(MPDZ):c.1345C>T (p.Arg449Ter)
NM_001378778.1(MPDZ):c.3860C>A (p.Ser1287Ter)
NM_001378778.1(MPDZ):c.3897dup (p.Pro1300fs)
NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs) rs769407804
NM_001379110.1(SLC9A6):c.465del (p.Ser158fs) rs2089536867
NM_001379200.1(TBX1):c.936-2A>G rs1555896474
NM_001379210.1(SLC25A26):c.424C>T (p.Arg142Ter)
NM_001379403.1(WDR26):c.1193del (p.Pro398fs)
NM_001379403.1(WDR26):c.1776G>A (p.Trp592Ter)
NM_001379403.1(WDR26):c.1849del (p.Thr618fs)
NM_001379403.1(WDR26):c.1925_1934del (p.Ala641_Leu642insTer) rs1553353206
NM_001379403.1(WDR26):c.2094G>A (p.Trp698Ter) rs1673192650
NM_001379403.1(WDR26):c.509dup (p.Asn170fs) rs1674500220
NM_001379500.1(COL18A1):c.2825_2835delinsA (p.Gly942fs)
NM_001379659.1(ZNF142):c.3311C>G (p.Ser1104Ter)
NM_001379659.1(ZNF142):c.3904del (p.Ala1302fs)
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.5408dup (p.Asn1803fs)
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs) rs775263897
NM_001385.3(DPYS):c.253C>T (p.Gln85Ter)
NM_001385012.1(NBEA):c.3895C>T (p.Arg1299Ter) rs2069582817
NM_001385012.1(NBEA):c.4477_4478del (p.Arg1493fs) rs2070635297
NM_001386125.1(OBSCN):c.21291-7_21294del rs869312933
NM_001386135.1(AFF3):c.697G>A (p.Ala233Thr) rs1131692272
NM_001386140.1(MTTP):c.942C>G (p.Tyr314Ter)
NM_001386298.1(CIC):c.3179+1G>T rs2147185256
NM_001386298.1(CIC):c.3704C>G (p.Ser1235Ter)
NM_001386298.1(CIC):c.7046dup (p.Asp2349fs) rs1555773554
NM_001389.5(DSCAM):c.3276del (p.Glu1093fs) rs1375541923
NM_001389.5(DSCAM):c.5260C>T (p.Arg1754Ter) rs1369501286
NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs) rs797044907
NM_001393769.1(MED12L):c.3733C>T (p.Arg1245Ter) rs1756333400
NM_001394998.1(TANC2):c.3238-1G>A
NM_001410729.1(HDAC8):c.915del (p.Arg306fs) rs1555991965
NM_001413917.1(ETV6):c.1010-5011_1010-5007del
NM_001429.4(EP300):c.1066C>T (p.Gln356Ter) rs1555907278
NM_001429.4(EP300):c.1447C>T (p.Gln483Ter)
NM_001429.4(EP300):c.1508dup (p.Met503fs) rs1555907749
NM_001429.4(EP300):c.1879_1889delinsTTGAAGTGGTAGTATTC (p.Ala627_Tyr630delinsLeuLysTrpTer)
NM_001429.4(EP300):c.272del (p.Pro91fs) rs1555905780
NM_001429.4(EP300):c.2855C>G (p.Ser952Ter) rs2059047548
NM_001429.4(EP300):c.2874dup (p.Ser959Ter)
NM_001429.4(EP300):c.4026-2A>G rs1555911098
NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter) rs1555911313
NM_001429.4(EP300):c.4575dup (p.Glu1526fs) rs2059177123
NM_001429.4(EP300):c.4579_4589del (p.Arg1527fs) rs1555911580
NM_001429.4(EP300):c.580_587del (p.Gly194fs)
NM_001429.4(EP300):c.6792_6793insT (p.Leu2265fs)
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) rs745744124
NM_001478.5(B4GALNT1):c.863_870dup (p.Arg291fs)
NM_001510.4(GRID2):c.1960G>A (p.Ala654Thr)
NM_001510.4(GRID2):c.1961C>G (p.Ala654Gly) rs1726914026
NM_001519.4(BRF1):c.1649del (p.Gly550fs)
NM_001519.4(BRF1):c.794_795insTTTA (p.Glu266fs)
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001555.5(IGSF1):c.1814_1836dup (p.Arg613delinsGlyArgThrTer)
NM_001605.3(AARS1):c.1699C>T (p.Gln567Ter)
NM_001605.3(AARS1):c.661C>T (p.Gln221Ter)
NM_001605.3(AARS1):c.966T>G (p.Tyr322Ter)
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His) rs1555666392
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) rs281875326
NM_001615.4(ACTG2):c.533G>A (p.Arg178His) rs587777384
NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu) rs587777384
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001615.4(ACTG2):c.770G>A (p.Arg257His) rs797044959
NM_001655.5(ARCN1):c.76C>T (p.Arg26Ter)
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer) rs797044871
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001759.4(CCND2):c.838A>G (p.Thr280Ala) rs587777618
NM_001759.4(CCND2):c.841C>G (p.Pro281Ala) rs587777621
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001791.4(CDC42):c.196A>G (p.Arg66Gly) rs797044870
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) rs797044916
NM_001844.5(COL2A1):c.115C>T (p.Gln39Ter) rs1940161368
NM_001844.5(COL2A1):c.1388_1996-108del
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.1528G>T (p.Gly510Cys) rs1555167157
NM_001844.5(COL2A1):c.2302-2A>G rs1939127867
NM_001844.5(COL2A1):c.3265G>A (p.Gly1089Arg) rs1555165183
NM_001844.5(COL2A1):c.3879G>A (p.Trp1293Ter) rs1555164672
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.3067G>A (p.Gly1023Arg) rs1555302942
NM_001845.6(COL4A1):c.3505+1G>A rs1555302735
NM_001845.6(COL4A1):c.4738G>A (p.Gly1580Ser) rs113994114
NM_001848.3(COL6A1):c.805G>A (p.Gly269Arg) rs886042856
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp) rs1555872965
NM_001849.4(COL6A2):c.955-2A>G rs1555873084
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001873.4(CPE):c.1150C>T (p.Gln384Ter)
NM_001875.5(CPS1):c.1930del (p.Cys644fs)
NM_001904.4(CTNNB1):c.1081+1G>A rs2078201673
NM_001904.4(CTNNB1):c.1135C>T (p.Gln379Ter)
NM_001904.4(CTNNB1):c.1158del (p.Asn387fs) rs1553631783
NM_001904.4(CTNNB1):c.1574_1575insT (p.Pro526fs) rs2078377820
NM_001904.4(CTNNB1):c.1683G>C (p.Val561=) rs1553632001
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_001904.4(CTNNB1):c.1782_1783del (p.Thr595fs)
NM_001904.4(CTNNB1):c.1848_1858del (p.Val617fs)
NM_001904.4(CTNNB1):c.1870dup (p.Asp624fs) rs2078435846
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs) rs1553632361
NM_001904.4(CTNNB1):c.268C>T (p.Arg90Ter) rs1369821061
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001904.4(CTNNB1):c.788T>G (p.Leu263Ter) rs2078159952
NM_001904.4(CTNNB1):c.796C>T (p.Gln266Ter) rs1553630472
NM_001904.4(CTNNB1):c.804del (p.Ala269fs) rs2078160204
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter) rs778624338
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser) rs587777162
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001958.5(EEF1A2):c.424A>G (p.Thr142Ala) rs1568997118
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_002016.2(FLG):c.1830del (p.Arg612fs) rs1570913142
NM_002024.6(FMR1):c.104+3_104+6del rs2043190584
NM_002025.4(AFF2):c.76A>T (p.Lys26Ter) rs1557256416
NM_002047.4(GARS1):c.373G>A (p.Glu125Lys) rs797044855
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) rs121909717
NM_002074.5(GNB1):c.1011_1013del (p.Lys337_Ile338delinsAsn) rs1553191393
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.353A>G (p.Asp118Gly) rs1553194162
NM_002074.5(GNB1):c.640C>T (p.Arg214Ter) rs1002519501
NM_002087.4(GRN):c.1153G>T (p.Glu385Ter)
NM_002087.4(GRN):c.967_976del (p.Pro323fs)
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys) rs776730737
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro) rs1483165002
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs) rs1189538200
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002335.4(LRP5):c.2718_2721del (p.Met907fs) rs1244761864
NM_002335.4(LRP5):c.3232C>T (p.Arg1078Ter) rs765402802
NM_002335.4(LRP5):c.4488+2T>G rs80358322
NM_002335.4(LRP5):c.500G>C (p.Trp167Ser) rs770383372
NM_002336.3(LRP6):c.1003C>T (p.Arg335Ter) rs1565611848
NM_002340.6(LSS):c.494del (p.Gly165fs)
NM_002351.5(SH2D1A):c.150C>A (p.Tyr50Ter) rs1556620698
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.113T>C (p.Leu38Pro) rs397514655
NM_002397.5(MEF2C):c.123_124del (p.Cys41_Glu42delinsTer) rs1554139771
NM_002397.5(MEF2C):c.204_208del (p.Lys68fs)
NM_002397.5(MEF2C):c.214del (p.Tyr72fs) rs1554139723
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.5(MEF2C):c.638-2A>C rs1554102556
NM_002397.5(MEF2C):c.64_77del (p.Thr22fs)
NM_002430.3(MN1):c.1627C>T (p.Gln543Ter)
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002453.3(MTIF2):c.573C>G (p.His191Gln) rs745980045
NM_002453.3(MTIF2):c.899_909del (p.Val300fs) rs1281877795
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) rs768980918
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg) rs1565943228
NM_002470.4(MYH3):c.3751C>T (p.Arg1251Ter)
NM_002470.4(MYH3):c.5605_5659-47del rs1555524879
NM_002471.4(MYH6):c.2462_2469del (p.Arg821fs) rs1555334047
NM_002491.3(NDUFB3):c.200del (p.Phe67fs) rs1553535063
NM_002495.4(NDUFS4):c.319_322del (p.Trp107fs)
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) rs587776949
NM_002529.4(NTRK1):c.2088del (p.Glu697fs)
NM_002529.4(NTRK1):c.538C>T (p.Gln180Ter) rs1571689751
NM_002547.3(OPHN1):c.1141G>T (p.Glu381Ter) rs2077499942
NM_002547.3(OPHN1):c.2110_2111del (p.Phe704fs)
NM_002578.5(PAK3):c.535G>T (p.Glu179Ter)
NM_002585.4(PBX1):c.685C>T (p.Arg229Ter) rs1668981132
NM_002591.4(PCK1):c.1234C>T (p.Gln412Ter)
NM_002599.5(PDE2A):c.574_592dup (p.Gly198fs)
NM_002617.4(PEX10):c.157_158del (p.Ser53fs) rs1384671249
NM_002617.4(PEX10):c.776+1G>C rs869312935
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs) rs763428801
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.3(POLG):c.3014_3057del (p.Val1005fs) rs886041276
NM_002693.3(POLG):c.409C>T (p.Gln137Ter) rs1057517891
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002764.4(PRPS1):c.307-2A>G rs1556299881
NM_002816.5(PSMD12):c.1071_1072del (p.Arg357fs) rs2041946364
NM_002830.4(PTPN4):c.745C>T (p.Arg249Ter)
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002860.4(ALDH18A1):c.250C>T (p.Arg84Ter)
NM_002860.4(ALDH18A1):c.301C>T (p.Gln101Ter) rs1566039159
NM_002861.5(PCYT2):c.524_527del (p.Asp175fs)
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002890.3(RASA1):c.2184+1G>T rs1761341362
NM_002894.3(RBBP8):c.2042C>G (p.Ser681Ter)
NM_002971.6(SATB1):c.804_806delinsGGGA (p.Asn268fs)
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003011.4(SET):c.452del (p.Pro151fs)
NM_003024.3(ITSN1):c.1909C>T (p.Arg637Ter)
NM_003024.3(ITSN1):c.2895C>G (p.Tyr965Ter)
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.100G>T (p.Gly34Cys) rs387907306
NM_003036.4(SKI):c.94C>G (p.Leu32Val) rs387907304
NM_003042.4(SLC6A1):c.1104C>G (p.Tyr368Ter)
NM_003042.4(SLC6A1):c.1189C>T (p.Gln397Ter) rs1553690452
NM_003042.4(SLC6A1):c.1595G>A (p.Trp532Ter) rs1559640454
NM_003042.4(SLC6A1):c.531C>G (p.Tyr177Ter)
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs) rs1553688970
NM_003042.4(SLC6A1):c.809T>C (p.Phe270Ser) rs1553689580
NM_003042.4(SLC6A1):c.850-2A>G rs1553689664
NM_003054.4(SLC18A2):c.835_836delAG rs1431337923
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His) rs1586692551
NM_003070.5(SMARCA2):c.3593T>G (p.Val1198Gly) rs1554629007
NM_003072.5(SMARCA4):c.2348T>C (p.Leu783Pro) rs869312964
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003106.4(SOX2):c.70_86del (p.Asn24fs) rs1553862927
NM_003108.4(SOX11):c.1164_1176del (p.Asn389fs) rs1553328057
NM_003108.4(SOX11):c.791C>A (p.Ser264Ter) rs1553327954
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.347C>A (p.Ser116Ter) rs149474131
NM_003124.5(SPR):c.587A>G (p.Tyr196Cys) rs1670577739
NM_003128.3(SPTBN1):c.3523del (p.Leu1175fs)
NM_003128.3(SPTBN1):c.4341_4344del (p.Ser1447fs)
NM_003130.4(SRI):c.206-1G>A rs869312940
NM_003172.4(SURF1):c.240G>C (p.Gln80His) rs1554768709
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) rs782061187
NM_003185.4(TAF4):c.1519C>T (p.Gln507Ter)
NM_003185.4(TAF4):c.2719C>T (p.Gln907Ter)
NM_003193.5(TBCE):c.653G>A (p.Trp218Ter)
NM_003221.4(TFAP2B):c.601+1G>A
NM_003238.6(TGFB2):c.229_245del (p.Leu77fs) rs1553292105
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_003336.4(UBE2A):c.108G>A (p.Trp36Ter) rs2053404449
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003384.3(VRK1):c.179_180del (p.Glu60fs) rs2139759363
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
NM_003403.5(YY1):c.468_483del (p.Gly157fs) rs1890695996
NM_003470.3(USP7):c.845C>G (p.Ser282Ter)
NM_003482.4(KMT2D):c.11547_11557dup (p.Val3853fs) rs1555188623
NM_003482.4(KMT2D):c.11938C>T (p.Gln3980Ter)
NM_003482.4(KMT2D):c.11944C>T (p.Arg3982Ter) rs1555188379
NM_003482.4(KMT2D):c.12414dup (p.Val4139fs) rs1942959186
NM_003482.4(KMT2D):c.12466del (p.Gln4156fs)
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) rs587783685
NM_003482.4(KMT2D):c.13411_13412del (p.Asn4471fs) rs1555187440
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter) rs587783690
NM_003482.4(KMT2D):c.13986_13993dup (p.Leu4665fs) rs1555186842
NM_003482.4(KMT2D):c.14075+1G>A rs1057516039
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys) rs794727688
NM_003482.4(KMT2D):c.15858_15859del (p.Tyr5287fs)
NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter) rs1565756115
NM_003482.4(KMT2D):c.16022C>G (p.Ser5341Ter)
NM_003482.4(KMT2D):c.16273G>A (p.Glu5425Lys) rs2137706560
NM_003482.4(KMT2D):c.16336dup (p.Gln5446fs) rs1555184787
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.4(KMT2D):c.1967del (p.Leu656fs) rs772870804
NM_003482.4(KMT2D):c.4485C>A (p.Tyr1495Ter) rs574622908
NM_003482.4(KMT2D):c.4941del (p.Asp1648fs) rs1555194443
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter) rs1555194045
NM_003482.4(KMT2D):c.5775del (p.Leu1926fs) rs1943599403
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003482.4(KMT2D):c.778del (p.Ala259_Leu260insTer) rs1938214848
NM_003482.4(KMT2D):c.9787_9791dup (p.Gln3265fs) rs1943282614
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003560.4(PLA2G6):c.1019_1025del (p.Gly340fs) rs797044903
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg) rs587784327
NM_003560.4(PLA2G6):c.2166del (p.Phe722fs)
NM_003560.4(PLA2G6):c.533_536del (p.Gln178fs) rs2089023572
NM_003590.5(CUL3):c.1349_1350del (p.Asp449_Ser450insTer) rs1553521389
NM_003590.5(CUL3):c.1651C>T (p.Gln551Ter) rs1553602498
NM_003590.5(CUL3):c.493_494del (p.Leu165fs) rs1553523940
NM_003611.3(OFD1):c.2076del (p.Phe692fs) rs1555907034
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003620.4(PPM1D):c.1210C>T (p.Gln404Ter) rs768126695
NM_003620.4(PPM1D):c.1213G>T (p.Glu405Ter) rs2031447940
NM_003620.4(PPM1D):c.1216del (p.Thr406fs) rs747947002
NM_003620.4(PPM1D):c.1269_1270del (p.Glu424fs) rs2031551420
NM_003680.4(YARS1):c.112del (p.Ile38fs) rs771840678
NM_003680.4(YARS1):c.1276del (p.Asn425_Leu426insTer) rs764028295
NM_003680.4(YARS1):c.159del (p.Phe53fs)
NM_003680.4(YARS1):c.835C>T (p.Arg279Ter) rs767579114
NM_003705.5(SLC25A12):c.249_255del (p.Cys85fs)
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_003718.5(CDK13):c.1228C>T (p.Arg410Ter)
NM_003718.5(CDK13):c.181del (p.Leu61fs) rs1554317002
NM_003718.5(CDK13):c.1959del (p.Glu654fs)
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter) rs775898119
NM_003718.5(CDK13):c.901del (p.Arg301fs)
NM_003719.5(PDE8B):c.328_329del (p.Thr110fs)
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) rs121908841
NM_003730.6(RNASET2):c.154C>T (p.Gln52Ter)
NM_003742.4(ABCB11):c.3213+1del rs1553546495
NM_003859.3(DPM1):c.331_343del (p.Gly111fs) rs1272097668
NM_003865.3(HESX1):c.254C>A (p.Ser85Ter)
NM_003906.5(MCM3AP):c.2936_2937del (p.Pro979fs)
NM_003906.5(MCM3AP):c.3228dup (p.Asp1077Ter)
NM_003919.3(SGCE):c.1151del (p.Leu384fs)
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) rs121908489
NM_003922.4(HERC1):c.5164C>T (p.Gln1722Ter)
NM_003922.4(HERC1):c.681del (p.Gly231fs) rs2076073941
NM_003922.4(HERC1):c.7771C>T (p.Arg2591Ter)
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004055.5(CAPN5):c.865C>T (p.Arg289Trp) rs886041303
NM_004092.4(ECHS1):c.370dup (p.Thr124fs)
NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs) rs777218310
NM_004100.5(EYA4):c.316del (p.Ser106fs) rs1554260888
NM_004187.5(KDM5C):c.147del (p.Ala50fs)
NM_004187.5(KDM5C):c.2275_2276dup (p.Met759fs)
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004187.5(KDM5C):c.2575C>T (p.Gln859Ter) rs1556838661
NM_004187.5(KDM5C):c.2770C>T (p.Gln924Ter) rs1556837420
NM_004187.5(KDM5C):c.2785C>T (p.Arg929Ter) rs782405999
NM_004187.5(KDM5C):c.3058C>T (p.Gln1020Ter) rs1556836399
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004187.5(KDM5C):c.3692del (p.Pro1231fs)
NM_004187.5(KDM5C):c.3835C>T (p.Gln1279Ter)
NM_004204.5(PIGQ):c.572G>A (p.Trp191Ter)
NM_004247.4(EFTUD2):c.1058+1G>A rs1085307647
NM_004247.4(EFTUD2):c.1465_1466del (p.Gln489fs) rs1555565807
NM_004247.4(EFTUD2):c.1554del (p.Asp518fs) rs2050680680
NM_004247.4(EFTUD2):c.2352dup (p.Arg785fs) rs1555564175
NM_004247.4(EFTUD2):c.2504_2505dup (p.Val836fs) rs2050490408
NM_004247.4(EFTUD2):c.2562-1G>A rs1555564006
NM_004247.4(EFTUD2):c.2595dup (p.Ser866fs) rs1555563998
NM_004260.4(RECQL4):c.792G>A (p.Trp264Ter) rs1554902811
NM_004268.5(MED17):c.98dup (p.Leu34fs) rs745733410
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004287.5(GOSR2):c.341_342del (p.Asp113_Ser114insTer)
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) rs397516893
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln) rs869025340
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg) rs1553553625
NM_004380.3(CREBBP):c.1948T>C (p.Tyr650His)
NM_004380.3(CREBBP):c.3428del (p.Asp1143fs) rs1555478331
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter) rs1596852578
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3955C>T (p.Arg1319Ter) rs1555475250
NM_004380.3(CREBBP):c.4348T>C (p.Tyr1450His) rs1555473499
NM_004380.3(CREBBP):c.4409A>G (p.His1470Arg) rs797044860
NM_004380.3(CREBBP):c.4495C>G (p.Leu1499Val) rs2052070559
NM_004380.3(CREBBP):c.5129G>A (p.Cys1710Tyr) rs1555471813
NM_004380.3(CREBBP):c.5361C>A (p.Asn1787Lys) rs375462934
NM_004380.3(CREBBP):c.5558A>C (p.Gln1853Pro)
NM_004380.3(CREBBP):c.6271A>T (p.Lys2091Ter)
NM_004380.3(CREBBP):c.90del (p.Phe30fs) rs1555496732
NM_004385.5(VCAN):c.4004-2A>G rs80356555
NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs) rs1554093461
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg) rs1554774587
NM_004408.4(DNM1):c.1190G>A (p.Gly397Asp) rs1554774708
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.713G>T (p.Ser238Ile) rs1554773487
NM_004429.5(EFNB1):c.142A>T (p.Lys48Ter) rs1556105875
NM_004446.3(EPRS1):c.4150C>T (p.Arg1384Ter)
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004463.3(FGD1):c.1076del (p.Leu359fs)
NM_004463.3(FGD1):c.1636+1G>A rs1569541211
NM_004463.3(FGD1):c.26dup (p.Ala10fs) rs1557191602
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_004463.3(FGD1):c.710del (p.Gly237fs)
NM_004463.3(FGD1):c.997C>T (p.Gln333Ter) rs1557189592
NM_004484.4(GPC3):c.256C>T (p.Arg86Ter) rs2076400520
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004523.4(KIF11):c.2697_2700del (p.Asn899fs) rs1554863044
NM_004525.3(LRP2):c.7401del (p.Ala2468fs)
NM_004544.4(NDUFA10):c.858_862dup (p.Asn288fs)
NM_004551.3(NDUFS3):c.49dup (p.Ala17fs)
NM_004586.3(RPS6KA3):c.1522C>T (p.Gln508Ter) rs1555928716
NM_004586.3(RPS6KA3):c.1612del (p.Arg538fs) rs2067399344
NM_004586.3(RPS6KA3):c.1672C>T (p.Arg558Ter)
NM_004586.3(RPS6KA3):c.1699C>T (p.Gln567Ter) rs1555927554
NM_004586.3(RPS6KA3):c.1859del (p.Asn620fs)
NM_004586.3(RPS6KA3):c.1970C>G (p.Ser657Ter) rs2067184984
NM_004586.3(RPS6KA3):c.486G>A (p.Glu162=) rs2068213764
NM_004586.3(RPS6KA3):c.712G>T (p.Glu238Ter) rs1555939377
NM_004586.3(RPS6KA3):c.774+1G>A rs1555939331
NM_004595.5(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.5(SMS):c.700C>T (p.Arg234Ter)
NM_004608.4(TBX6):c.699G>A (p.Trp233Ter)
NM_004618.5(TOP3A):c.1012C>T (p.Arg338Ter)
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_004646.4(NPHS1):c.3213del (p.Leu1072fs) rs1420623853
NM_004713.6(NEMF):c.2020dup (p.Arg674fs)
NM_004713.6(NEMF):c.517del (p.Glu172_Ile173insTer)
NM_004722.4(AP4M1):c.727G>A (p.Gly243Ser) rs1554380093
NM_004750.5(CRLF1):c.713dup (p.Pro239fs) rs768727082
NM_004780.3(TCEAL1):c.196G>T (p.Glu66Ter)
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004820.5(CYP7B1):c.321_324del (p.Lys107fs) rs770285398
NM_004826.4(ECEL1):c.110_155del (p.Phe37fs) rs1341894581
NM_004830.4(MED23):c.815dup (p.Tyr272Ter)
NM_004859.4(CLTC):c.1843C>T (p.Gln615Ter) rs2032737194
NM_004859.4(CLTC):c.2737_2738dup (p.Asp913fs) rs797044884
NM_004859.4(CLTC):c.4420G>T (p.Glu1474Ter) rs1555607504
NM_004859.4(CLTC):c.4485_4488del (p.Ala1496fs)
NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter) rs1555607682
NM_004937.3(CTNS):c.841dup (p.Tyr281fs) rs1411094034
NM_004947.5(DOCK3):c.382C>T (p.Gln128Ter) rs1553749681
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile) rs1553171141
NM_004960.4(FUS):c.1504del (p.Asp502fs) rs1161032867
NM_004973.4(JARID2):c.1272del (p.Arg425fs)
NM_004973.4(JARID2):c.2533G>T (p.Glu845Ter)
NM_004973.4(JARID2):c.416del (p.Pro139fs)
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004999.4(MYO6):c.1975C>T (p.Arg659Ter) rs1777073184
NM_005002.5(NDUFA9):c.394C>T (p.Arg132Ter)
NM_005006.7(NDUFS1):c.503del (p.Leu168fs)
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005045.4(RELN):c.1026C>A (p.Cys342Ter) rs1554404013
NM_005094.4(SLC27A4):c.1774G>A (p.Gly592Arg) rs869312967
NM_005121.3(MED13):c.3826C>T (p.Gln1276Ter) rs2080121850
NM_005121.3(MED13):c.5002C>T (p.Arg1668Ter)
NM_005121.3(MED13):c.5969-1G>A rs2079910913
NM_005121.3(MED13):c.722_726del (p.Pro241fs) rs2080779329
NM_005149.3(TBX19):c.75_78del (p.Glu26fs) rs760520604
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005199.5(CHRNG):c.117dup (p.Asn40fs) rs797044677
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) rs606231417
NM_005215.4(DCC):c.2134_2135dup (p.Ala713fs) rs2057418362
NM_005215.4(DCC):c.2540del (p.Pro847fs)
NM_005215.4(DCC):c.3061C>T (p.Arg1021Ter)
NM_005215.4(DCC):c.643C>T (p.Arg215Ter) rs1180126622
NM_005235.3(ERBB4):c.1015_1034del (p.Thr339fs)
NM_005235.3(ERBB4):c.1776dup (p.Cys593fs)
NM_005249.5(FOXG1):c.1062del (p.Ser355fs) rs1881817310
NM_005249.5(FOXG1):c.1082dup (p.Leu362fs) rs1555321405
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.561C>A (p.Asn187Lys) rs796052462
NM_005249.5(FOXG1):c.561C>G (p.Asn187Lys) rs796052462
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.717C>G (p.Phe239Leu) rs1555321339
NM_005249.5(FOXG1):c.732_741del (p.His245fs) rs1555321345
NM_005249.5(FOXG1):c.776C>G (p.Pro259Arg) rs869312961
NM_005249.5(FOXG1):c.859A>T (p.Lys287Ter) rs1555321367
NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys) rs1567571184
NM_005334.3(HCFC1):c.5860G>A (p.Gly1954Arg) rs797044886
NM_005340.7(HINT1):c.184C>T (p.Gln62Ter) rs397514492
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005378.6(MYCN):c.1177C>T (p.Arg393Cys) rs104893647
NM_005378.6(MYCN):c.328del (p.Val110fs)
NM_005378.6(MYCN):c.442del (p.Gln148fs) rs886041801
NM_005378.6(MYCN):c.799del (p.Asp267fs) rs1662837763
NM_005378.6(MYCN):c.950_951dup (p.Leu318fs)
NM_005402.4(RALA):c.73G>A (p.Val25Met) rs1554297905
NM_005430.4(WNT1):c.884C>A (p.Ser295Ter) rs387907356
NM_005445.4(SMC3):c.2750A>C (p.His917Pro) rs797044861
NM_005450.6(NOG):c.358del (p.Ile120fs) rs2052470053
NM_005450.6(NOG):c.4G>T (p.Glu2Ter) rs2052465606
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_005499.3(UBA2):c.816_817del (p.Trp273fs) rs1555729503
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005518.4(HMGCS2):c.67dup (p.Leu23fs)
NM_005546.4(ITK):c.913del (p.Tyr305fs) rs1554102738
NM_005559.4(LAMA1):c.4120C>T (p.Gln1374Ter)
NM_005560.6(LAMA5):c.3364C>T (p.Gln1122Ter)
NM_005573.4(LMNB1):c.939+1G>A rs1751587092
NM_005573.4(LMNB1):c.97A>G (p.Lys33Glu) rs1750497172
NM_005585.5(SMAD6):c.533C>A (p.Ser178Ter)
NM_005618.4(DLL1):c.1525C>T (p.Arg509Ter) rs1583152162
NM_005618.4(DLL1):c.601del (p.His201fs) rs1783752911
NM_005618.4(DLL1):c.845del (p.Gly282fs)
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
NM_005629.4(SLC6A8):c.1347_1348del (p.Cys450fs)
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005654.6(NR2F1):c.2T>C (p.Met1Thr) rs886041216
NM_005654.6(NR2F1):c.425G>A (p.Arg142His) rs1554074684
NM_005654.6(NR2F1):c.547del (p.Cys183fs)
NM_005654.6(NR2F1):c.94_157del (p.Gly32fs)
NM_005660.3(SLC35A2):c.795del (p.Phe265fs) rs1557042808
NM_005670.4(EPM2A):c.788_791dup (p.His265fs)
NM_005670.4(EPM2A):c.788_792delinsCCCTTCTGCCCAC (p.Tyr263fs)
NM_005676.5(RBM10):c.1352_1353del (p.Glu451fs) rs1131690789
NM_005676.5(RBM10):c.1473_1474del (p.Ser492fs) rs1556779417
NM_005787.6(ALG3):c.991C>T (p.Gln331Ter) rs1553827968
NM_005807.6(PRG4):c.3023_3024del (p.Lys1008fs) rs745371972
NM_005807.6(PRG4):c.3660del (p.Asn1221fs) rs1369814055
NM_005826.5(HNRNPR):c.1599_1600dup (p.Ala534fs)
NM_005850.5(SF3B4):c.1147del (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1147dup (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1163del (p.Pro388fs) rs2092569095
NM_005850.5(SF3B4):c.535A>T (p.Lys179Ter) rs2092591227
NM_005859.5(PURA):c.-20_142del (p.Met1_Gly48del)
NM_005859.5(PURA):c.101del (p.Gly34fs) rs1763036977
NM_005859.5(PURA):c.127_130del (p.Ser43fs) rs1763038687
NM_005859.5(PURA):c.153del (p.Leu54fs) rs1554129039
NM_005859.5(PURA):c.506G>C (p.Arg169Pro) rs1554129099
NM_005859.5(PURA):c.531del (p.Pro178fs) rs2126749210
NM_005859.5(PURA):c.533dup (p.Gly179fs) rs1763049893
NM_005859.5(PURA):c.583_602del (p.Leu195fs)
NM_005859.5(PURA):c.641_645dup (p.Ala216fs) rs1763052510
NM_005859.5(PURA):c.677_678del (p.Val226fs) rs1064796830
NM_005859.5(PURA):c.681_682insTGAGGAC (p.Asn228Ter) rs1763053171
NM_005859.5(PURA):c.692T>C (p.Phe231Ser) rs1554129113
NM_005859.5(PURA):c.7_11del (p.Asp3fs) rs1554128999
NM_005859.5(PURA):c.927_940del (p.Thr310fs) rs797044944
NM_005866.4(SIGMAR1):c.14_20dup (p.Arg8fs) rs1820936580
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln) rs387906829
NM_005886.3(KATNB1):c.131_147del (p.Arg44fs)
NM_005901.6(SMAD2):c.773dup (p.Asn258fs) rs1555646987
NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser) rs797044882
NM_005909.5(MAP1B):c.1988del (p.Lys663fs)
NM_005909.5(MAP1B):c.6068_6069del (p.Tyr2023fs)
NM_005909.5(MAP1B):c.6106dup (p.Asp2036fs) rs1747274021
NM_005918.4(MDH2):c.157dup (p.Leu53fs) rs782759642
NM_005918.4(MDH2):c.566del (p.Pro189fs)
NM_005984.5(SLC25A1):c.381_382del (p.Cys127fs)
NM_005996.4(TBX3):c.1423C>T (p.Gln475Ter) rs1060505020
NM_006005.3(WFS1):c.1941C>A (p.Cys647Ter)
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys) rs137853049
NM_006009.4(TUBA1A):c.283G>T (p.Gly95Cys) rs1555162486
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) rs886039513
NM_006009.4(TUBA1A):c.424G>A (p.Gly142Ser) rs1555162407
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043
NM_006015.6(ARID1A):c.1251C>G (p.Tyr417Ter)
NM_006015.6(ARID1A):c.3826C>T (p.Arg1276Ter)
NM_006015.6(ARID1A):c.5329G>T (p.Glu1777Ter)
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006031.6(PCNT):c.1507C>T (p.Gln503Ter) rs1555954069
NM_006031.6(PCNT):c.4702G>T (p.Glu1568Ter) rs1217566598
NM_006035.4(CDC42BPB):c.1411del (p.Leu471fs)
NM_006059.4(LAMC3):c.1262C>A (p.Ser421Ter)
NM_006059.4(LAMC3):c.1648C>T (p.Gln550Ter)
NM_006059.4(LAMC3):c.3181del (p.Asp1061fs) rs1554789671
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys) rs864321717
NM_006086.4(TUBB3):c.523G>C (p.Val175Leu) rs1555625571
NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu) rs587777429
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His) rs886039470
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006147.4(IRF6):c.1060+1G>A rs781506407
NM_006158.5(NEFL):c.23C>T (p.Pro8Leu) rs61491953
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006186.4(NR4A2):c.325dup (p.Gln109fs) rs774629025
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006236.3(POU3F3):c.1240_1243del (p.Ile413_Glu414insTer)
NM_006236.3(POU3F3):c.614_620dup (p.Ser208fs)
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys) rs863225080
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala) rs1064794719
NM_006265.3(RAD21):c.1222G>T (p.Gly408Ter) rs1411614521
NM_006268.5(DPF2):c.904+1G>A rs1854517568
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter) rs878853326
NM_006269.2(RP1):c.458dup (p.Arg154fs) rs781249059
NM_006303.4(AIMP2):c.72_73del (p.Met24fs) rs1786357576
NM_006303.4(AIMP2):c.75C>A (p.Tyr25Ter) rs1786358808
NM_006306.4(SMC1A):c.1609del (p.Val537fs) rs1556889640
NM_006306.4(SMC1A):c.1990del (p.Arg664fs) rs1556889534
NM_006306.4(SMC1A):c.2329T>C (p.Phe777Leu) rs1556889236
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter) rs1556886124
NM_006306.4(SMC1A):c.3196C>T (p.Arg1066Cys) rs797044896
NM_006346.4(PIBF1):c.1974_1977del (p.Asn658fs)
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs) rs1563018529
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) rs119482081
NM_006420.3(ARFGEF2):c.3758-2A>C rs2091501415
NM_006421.5(ARFGEF1):c.3814C>T (p.Arg1272Ter)
NM_006421.5(ARFGEF1):c.5164C>T (p.Gln1722Ter)
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006494.4(ERF):c.266A>G (p.Tyr89Cys) rs886041001
NM_006494.4(ERF):c.619C>T (p.Arg207Ter) rs1555750795
NM_006494.4(ERF):c.697C>T (p.Arg233Ter) rs2036401878
NM_006494.4(ERF):c.785del (p.Pro262fs) rs1555750721
NM_006494.4(ERF):c.787C>T (p.Gln263Ter)
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007
NM_006502.3(POLH):c.512del (p.Leu171fs) rs1554140189
NM_006516.4(SLC2A1):c.1119dup (p.Gly374fs)
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys) rs796053263
NM_006516.4(SLC2A1):c.1236G>A (p.Trp412Ter) rs1557645002
NM_006516.4(SLC2A1):c.1263C>A (p.Cys421Ter) rs1643441134
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006516.4(SLC2A1):c.1399_1405dup (p.Gln469fs) rs1264369249
NM_006516.4(SLC2A1):c.1A>T (p.Met1Leu)
NM_006516.4(SLC2A1):c.257del (p.Phe86fs) rs1643484307
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter) rs1413339367
NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter) rs2124449417
NM_006516.4(SLC2A1):c.679+1G>C rs1553156086
NM_006516.4(SLC2A1):c.680-11G>A rs1259158687
NM_006516.4(SLC2A1):c.808C>T (p.Gln270Ter) rs1553156053
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) rs794727799
NM_006517.5(SLC16A2):c.1583del (p.Leu528fs) rs1555990320
NM_006517.5(SLC16A2):c.28G>T (p.Glu10Ter)
NM_006517.5(SLC16A2):c.359_360del (p.Ser120fs) rs1555979596
NM_006517.5(SLC16A2):c.383T>C (p.Leu128Pro) rs1555979604
NM_006517.5(SLC16A2):c.644C>A (p.Pro215Gln) rs759410438
NM_006517.5(SLC16A2):c.781C>T (p.Gln261Ter) rs1930459512
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys) rs1555535156
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu) rs2142847512
NM_006565.4(CTCF):c.1402_1415del (p.Lys467_Lys468insTer) rs2052290589
NM_006565.4(CTCF):c.1456C>T (p.Gln486Ter) rs1555535739
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.615_618del (p.Lys206fs) rs1555534147
NM_006565.4(CTCF):c.75C>A (p.Tyr25Ter) rs1555534067
NM_006567.5(FARS2):c.298C>T (p.Gln100Ter) rs1428625375
NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter) rs761709212
NM_006593.4(TBR1):c.165del (p.Thr56fs)
NM_006593.4(TBR1):c.667G>C (p.Glu223Gln) rs1553510215
NM_006618.5(KDM5B):c.1538G>A (p.Trp513Ter)
NM_006618.5(KDM5B):c.1558dup (p.Tyr520fs)
NM_006618.5(KDM5B):c.2950C>T (p.Arg984Ter)
NM_006618.5(KDM5B):c.3328del (p.Glu1110fs) rs1655058321
NM_006618.5(KDM5B):c.3727C>T (p.Arg1243Ter) rs869312703
NM_006618.5(KDM5B):c.390dup (p.Phe131fs)
NM_006618.5(KDM5B):c.4276C>T (p.Arg1426Ter)
NM_006618.5(KDM5B):c.814_817dup (p.Met273fs)
NM_006618.5(KDM5B):c.906del (p.Ala303fs)
NM_006623.4(PHGDH):c.1063C>T (p.Gln355Ter) rs979237677
NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter) rs768207230
NM_006662.3(SRCAP):c.1358dup (p.Ala454fs)
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006662.3(SRCAP):c.7376del (p.Pro2459fs) rs1555465942
NM_006662.3(SRCAP):c.7549del (p.Gln2517fs) rs199469466
NM_006662.3(SRCAP):c.7727C>A (p.Ser2576Ter) rs1555465966
NM_006734.4(HIVEP2):c.3469C>T (p.Gln1157Ter)
NM_006734.4(HIVEP2):c.5835del (p.Leu1946fs) rs1775199259
NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter) rs1554274371
NM_006736.6(DNAJB2):c.229+2T>A
NM_006765.4(TUSC3):c.529C>T (p.Gln177Ter)
NM_006766.5(KAT6A):c.1900A>T (p.Lys634Ter) rs1822469455
NM_006766.5(KAT6A):c.2127del (p.Lys709fs) rs1822257059
NM_006766.5(KAT6A):c.214A>T (p.Lys72Ter)
NM_006766.5(KAT6A):c.2203C>T (p.Arg735Ter)
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) rs786200959
NM_006766.5(KAT6A):c.3286dup (p.Cys1096fs) rs1821898026
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3395_3396del (p.Asp1132fs) rs1821770366
NM_006766.5(KAT6A):c.3692del (p.Ala1231fs) rs1821750171
NM_006766.5(KAT6A):c.3928C>T (p.Gln1310Ter) rs777592513
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs) rs1554679889
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
NM_006766.5(KAT6A):c.442C>T (p.Arg148Ter) rs759900272
NM_006766.5(KAT6A):c.5353del (p.Ser1785fs)
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006772.3(SYNGAP1):c.1089C>A (p.Tyr363Ter)
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.1269T>G (p.Tyr423Ter) rs1561785045
NM_006772.3(SYNGAP1):c.1284T>A (p.Tyr428Ter) rs2151170078
NM_006772.3(SYNGAP1):c.1495del (p.Arg499fs) rs1554121353
NM_006772.3(SYNGAP1):c.1564G>T (p.Glu522Ter)
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_006772.3(SYNGAP1):c.1641_1642del (p.Cys547_Glu548delinsTer) rs2151172644
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006772.3(SYNGAP1):c.1761del (p.Arg587fs)
NM_006772.3(SYNGAP1):c.1891C>T (p.Gln631Ter) rs1554121729
NM_006772.3(SYNGAP1):c.2293del (p.Ser765fs) rs1761050922
NM_006772.3(SYNGAP1):c.2354dup (p.Leu786fs)
NM_006772.3(SYNGAP1):c.2387del (p.Pro796fs) rs1581995425
NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs) rs1554122252
NM_006772.3(SYNGAP1):c.2916del (p.Asp974fs) rs1064796547
NM_006772.3(SYNGAP1):c.2946T>A (p.Tyr982Ter)
NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs) rs1554122341
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3408+1G>A rs1554122402
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs) rs1554122458
NM_006772.3(SYNGAP1):c.3642del (p.Lys1215fs) rs1554122710
NM_006772.3(SYNGAP1):c.3665_3669dup (p.Leu1224fs) rs1761210688
NM_006772.3(SYNGAP1):c.3706C>T (p.Gln1236Ter) rs1554122729
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.434_447dup (p.Leu150fs)
NM_006772.3(SYNGAP1):c.43del (p.Ala15fs) rs1554304258
NM_006772.3(SYNGAP1):c.509+1G>A rs1561781989
NM_006772.3(SYNGAP1):c.510-2A>G rs1554120894
NM_006772.3(SYNGAP1):c.628_631dup (p.Ser211fs) rs1554120939
NM_006772.3(SYNGAP1):c.698_699dup (p.Arg234fs) rs1554120966
NM_006852.6(TLK2):c.1189-2A>G
NM_006852.6(TLK2):c.1746del (p.Ala583fs) rs1555661506
NM_006852.6(TLK2):c.713del (p.Leu238fs) rs2078645664
NM_006852.6(TLK2):c.859_860del (p.Arg286_Asp287insTer) rs2079640097
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter) rs1337897299
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_006914.4(RORB):c.218T>C (p.Leu73Pro) rs869312971
NM_006914.4(RORB):c.640C>T (p.Arg214Ter) rs1824166369
NM_006922.4(SCN3A):c.1318C>T (p.Gln440Ter) rs797044933
NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter) rs895607185
NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter) rs1591909421
NM_006940.6(SOX5):c.622C>T (p.Gln208Ter) rs1555307370
NM_006940.6(SOX5):c.747_748del (p.Arg250fs) rs1555301854
NM_006940.6(SOX5):c.931+1G>C rs998320959
NM_006946.4(SPTBN2):c.1915G>T (p.Glu639Ter) rs769987150
NM_006946.4(SPTBN2):c.2250_2252del (p.Tyr750_Gln751delinsTer)
NM_006950.3(SYN1):c.1310del (p.Pro437fs) rs1569322834
NM_007055.4(POLR3A):c.685C>T (p.Arg229Ter)
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_007103.4(NDUFV1):c.153G>A (p.Trp51Ter)
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007118.4(TRIO):c.2359C>T (p.Gln787Ter) rs1554062588
NM_007118.4(TRIO):c.3119G>A (p.Trp1040Ter) rs1554064863
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007118.4(TRIO):c.4292A>T (p.Lys1431Met) rs1747351918
NM_007118.4(TRIO):c.5274_5283del (p.Gly1759fs) rs1753758481
NM_007118.4(TRIO):c.7353_7354insCCAAGCCCCGGGCC (p.Gly2452fs)
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007129.5(ZIC2):c.85_86insGGGGGGGGGG (p.Ala29fs)
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_007198.4(PLPBP):c.35dup (p.Val13fs)
NM_007217.4(PDCD10):c.299del (p.Phe100fs) rs1720729752
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs) rs768847609
NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs) rs764379536
NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs) rs796052860
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter) rs2147383715
NM_007325.5(GRIA3):c.1266del (p.Arg423fs)
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln) rs1554770044
NM_007327.4(GRIN1):c.1645A>C (p.Ser549Arg) rs1554770046
NM_007327.4(GRIN1):c.1958C>G (p.Ala653Gly) rs1554770258
NM_007327.4(GRIN1):c.2414del (p.Pro805fs) rs766786160
NM_007327.4(GRIN1):c.2443G>A (p.Gly815Arg) rs797044925
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007363.5(NONO):c.1131G>A (p.Ala377=) rs869025343
NM_007363.5(NONO):c.550C>T (p.Arg184Ter) rs1602387702
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_012123.4(MTO1):c.734_735del (p.Lys245fs) rs755954353
NM_012123.4(MTO1):c.939-2A>G
NM_012154.5(AGO2):c.2252G>A (p.Cys751Tyr) rs2072680461
NM_012233.3(RAB3GAP1):c.1388_1389del (p.Cys463fs) rs1282248700
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_012280.4(FTSJ1):c.133del (p.Ala45fs)
NM_012280.4(FTSJ1):c.34T>A (p.Tyr12Asn) rs797044864
NM_012280.4(FTSJ1):c.352del (p.Ala118fs)
NM_012281.3(KCND2):c.1210G>A (p.Val404Met) rs587777631
NM_012309.5(SHANK2):c.277C>T (p.Gln93Ter) rs1555100954
NM_012330.4(KAT6B):c.2616del (p.Leu873fs)
NM_012330.4(KAT6B):c.3264dup (p.Glu1089fs) rs869312962
NM_012330.4(KAT6B):c.3373-2A>C
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) rs199470470
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs) rs199470472
NM_012330.4(KAT6B):c.4102dup (p.Glu1368fs) rs1554845598
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.4726_4729dup (p.Arg1577fs) rs1846150514
NM_012330.4(KAT6B):c.5302C>T (p.Gln1768Ter)
NM_012414.4(RAB3GAP2):c.2213-1G>A rs1553275644
NM_012434.5(SLC17A5):c.903C>A (p.Tyr301Ter)
NM_012479.4(YWHAG):c.170G>A (p.Arg57His) rs2115589045
NM_013275.6(ANKRD11):c.1355del (p.Asn452fs) rs1597465118
NM_013275.6(ANKRD11):c.1356_1359del (p.Asn452fs)
NM_013275.6(ANKRD11):c.1381_1382del (p.Glu461fs) rs1555529734
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs) rs1597464953
NM_013275.6(ANKRD11):c.1389del (p.Gly464fs) rs1555529726
NM_013275.6(ANKRD11):c.1462_1463del (p.Ser488fs) rs1555529645
NM_013275.6(ANKRD11):c.1623_1630del (p.His542fs) rs1555529572
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2130G>A (p.Trp710Ter) rs1555529297
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.226G>A (p.Glu76Lys) rs1555535454
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2494del (p.Ser832fs) rs1555529052
NM_013275.6(ANKRD11):c.2518del (p.Arg840fs) rs2034470669
NM_013275.6(ANKRD11):c.2611_2621del (p.Asp871fs)
NM_013275.6(ANKRD11):c.2750_2751del (p.Asn916_Ser917insTer)
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter) rs752918694
NM_013275.6(ANKRD11):c.3085A>T (p.Lys1029Ter)
NM_013275.6(ANKRD11):c.3138T>A (p.Cys1046Ter) rs1567574466
NM_013275.6(ANKRD11):c.3208_3209del (p.His1070fs) rs2034416782
NM_013275.6(ANKRD11):c.3244C>T (p.Gln1082Ter) rs2034413419
NM_013275.6(ANKRD11):c.3334dup (p.Ser1112fs) rs1555528558
NM_013275.6(ANKRD11):c.3594del (p.Glu1199fs)
NM_013275.6(ANKRD11):c.3702_3705del (p.Lys1235fs) rs1555528357
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.3910_3911dup (p.Ser1305fs)
NM_013275.6(ANKRD11):c.4091_4092del (p.Glu1364fs) rs2034338452
NM_013275.6(ANKRD11):c.4114G>T (p.Glu1372Ter) rs146474985
NM_013275.6(ANKRD11):c.4140C>G (p.Tyr1380Ter) rs1555528040
NM_013275.6(ANKRD11):c.4189del (p.Leu1397fs)
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs) rs886041521
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs) rs1597451815
NM_013275.6(ANKRD11):c.4585A>T (p.Lys1529Ter)
NM_013275.6(ANKRD11):c.4619_4620del (p.Lys1540fs)
NM_013275.6(ANKRD11):c.4902del (p.Leu1635fs) rs1555527497
NM_013275.6(ANKRD11):c.5537del (p.Leu1846fs) rs1555526796
NM_013275.6(ANKRD11):c.5739_5766del (p.Glu1915fs)
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_013275.6(ANKRD11):c.6911_6936del (p.Glu2304fs)
NM_013275.6(ANKRD11):c.7244_7247del (p.Leu2415fs)
NM_013275.6(ANKRD11):c.7303del (p.Ala2435fs) rs1555524870
NM_013275.6(ANKRD11):c.7327C>T (p.Gln2443Ter) rs1555524861
NM_013275.6(ANKRD11):c.7470+2dup
NM_013275.6(ANKRD11):c.7487_7490dup (p.Ala2498fs)
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_013275.6(ANKRD11):c.7569+1G>A rs797044890
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter) rs797044900
NM_013296.5(GPSM2):c.485del (p.Pro162fs) rs766556930
NM_013352.4(DSE):c.387del (p.Asp128_Tyr129insTer) rs1781476734
NM_013382.7(POMT2):c.1712dup (p.Ile572fs) rs780725241
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) rs1589088703
NM_014112.5(TRPS1):c.1088T>G (p.Leu363Ter) rs1554596397
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) rs121908431
NM_014112.5(TRPS1):c.2725del (p.Cys909fs)
NM_014112.5(TRPS1):c.3203dup (p.Ser1069fs) rs1812870694
NM_014112.5(TRPS1):c.3527dup (p.Leu1177fs) rs1812861396
NM_014141.6(CNTNAP2):c.1315_1316del (p.Gln439fs)
NM_014141.6(CNTNAP2):c.1689_1690del (p.Cys563_Glu564delinsTer) rs1554490549
NM_014141.6(CNTNAP2):c.2101G>T (p.Gly701Ter)
NM_014141.6(CNTNAP2):c.3331C>T (p.Gln1111Ter) rs1159246607
NM_014141.6(CNTNAP2):c.3408C>A (p.Tyr1136Ter) rs144003099
NM_014141.6(CNTNAP2):c.3556dup (p.Gln1186fs) rs772883080
NM_014159.6(SETD2):c.4457_4460del rs1553699115
NM_014159.7(SETD2):c.1828_1829del (p.Glu610fs) rs2043155739
NM_014159.7(SETD2):c.3199C>T (p.Gln1067Ter)
NM_014159.7(SETD2):c.3439C>T (p.Gln1147Ter)
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu) rs786205228
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014252.4(SLC25A15):c.81del (p.Gln28fs)
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del) rs878853282
NM_014362.4(HIBCH):c.595G>T (p.Gly199Ter) rs755786597
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
NM_014363.6(SACS):c.1706G>A (p.Trp569Ter) rs1555254256
NM_014363.6(SACS):c.3059dup (p.Ser1021fs) rs1869136727
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.6155C>G (p.Ser2052Ter)
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014384.3(ACAD8):c.1176G>T (p.Arg392Ser)
NM_014384.3(ACAD8):c.616C>T (p.Arg206Ter)
NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)
NM_014491.4(FOXP2):c.1031del (p.Gly344fs) rs1805777437
NM_014491.4(FOXP2):c.1127_1128insT (p.Ser377fs)
NM_014491.4(FOXP2):c.197T>G (p.Leu66Ter) rs1554412300
NM_014491.4(FOXP2):c.502C>T (p.Gln168Ter) rs1563045683
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter) rs121908378
NM_014495.4(ANGPTL3):c.950dup (p.Glu318fs)
NM_014515.7(CNOT2):c.683C>A (p.Ser228Ter)
NM_014516.4(CNOT3):c.1032dup (p.Ala345fs) rs2074797352
NM_014516.4(CNOT3):c.1440dup (p.Gly481fs) rs1555806893
NM_014516.4(CNOT3):c.76dup (p.Glu26fs)
NM_014633.5(CTR9):c.74C>G (p.Pro25Arg) rs2135353126
NM_014712.3(SETD1A):c.154_155del (p.Ser52fs)
NM_014712.3(SETD1A):c.2002C>T (p.Arg668Ter)
NM_014712.3(SETD1A):c.214del (p.Arg72fs) rs1555488653
NM_014727.3(KMT2B):c.1127_1130del (p.Lys376fs) rs1969141028
NM_014727.3(KMT2B):c.12_24dup (p.Ser9fs) rs1555727493
NM_014727.3(KMT2B):c.2425C>T (p.Gln809Ter) rs1555729045
NM_014727.3(KMT2B):c.3145dup (p.Ala1049fs) rs1969316263
NM_014727.3(KMT2B):c.3400C>T (p.Gln1134Ter) rs1555730069
NM_014727.3(KMT2B):c.4053_4063del (p.Glu1351fs)
NM_014727.3(KMT2B):c.5724_5751del (p.Pro1909fs) rs1555732564
NM_014727.3(KMT2B):c.6245_6266dup (p.Val2090fs) rs1555732987
NM_014727.3(KMT2B):c.6552dup (p.Lys2185fs)
NM_014727.3(KMT2B):c.7513_7514del (p.Asn2505fs)
NM_014727.3(KMT2B):c.7759C>T (p.Arg2587Ter) rs1555734923
NM_014738.6(TMEM94):c.2215C>T (p.Arg739Ter)
NM_014780.5(CUL7):c.2660+1G>C rs765870874
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1387del (p.Val463fs) rs1573717173
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1537del (p.Leu513fs) rs1553961697
NM_014795.4(ZEB2):c.175G>T (p.Glu59Ter)
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter) rs587784563
NM_014795.4(ZEB2):c.2102C>A (p.Ser701Ter) rs1703271038
NM_014795.4(ZEB2):c.2609C>A (p.Ser870Ter) rs1553961516
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.2856del (p.Arg953fs)
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter) rs797046120
NM_014795.4(ZEB2):c.3147del (p.Ser1050fs) rs1703134890
NM_014795.4(ZEB2):c.362_363dup (p.Pro122fs)
NM_014795.4(ZEB2):c.637_640dup (p.Pro214fs)
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter) rs587784570
NM_014795.4(ZEB2):c.909_910insTTTC (p.His304fs) rs1703305657
NM_014795.4(ZEB2):c.916+1G>A
NM_014804.3(KIAA0753):c.757C>T (p.Arg253Ter)
NM_014804.3(KIAA0753):c.799C>T (p.Arg267Ter)
NM_014844.5(TECPR2):c.524_527delinsACTGGATTATAGCCA (p.Ile175fs)
NM_014845.6(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
NM_014845.6(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.6(FIG4):c.1808_1811dup (p.Pro605fs)
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter) rs1488999396
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
NM_014845.6(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014846.4(WASHC5):c.232C>T (p.Gln78Ter) rs1586390087
NM_014846.4(WASHC5):c.2439del (p.Val814fs)
NM_014865.4(NCAPD2):c.1384del (p.Ala462fs)
NM_014874.4(MFN2):c.1612C>T (p.Gln538Ter)
NM_014874.4(MFN2):c.1789G>T (p.Glu597Ter) rs2100856157
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.4(MFN2):c.674_680del (p.Leu225fs) rs1060501915
NM_014918.5(CHSY1):c.1423C>T (p.Gln475Ter) rs1555492492
NM_014921.5(ADGRL1):c.2567C>A (p.Ser856Ter)
NM_014921.5(ADGRL1):c.3414_3415del (p.Gly1139fs)
NM_014921.5(ADGRL1):c.614_615insGTTG (p.Val206fs)
NM_014927.5(CNKSR2):c.2250_2256del (p.Gly751fs)
NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys) rs1057519181
NM_014946.4(SPAST):c.1168A>G (p.Met390Val) rs797044850
NM_014991.6(WDFY3):c.2158C>T (p.Arg720Ter) rs1752233376
NM_014991.6(WDFY3):c.2883del (p.Lys961fs)
NM_014991.6(WDFY3):c.3382C>T (p.Arg1128Ter)
NM_014991.6(WDFY3):c.9597del (p.Asn3200fs)
NM_015001.3(SPEN):c.3721C>T (p.Arg1241Ter)
NM_015001.3(SPEN):c.373C>T (p.Arg125Ter)
NM_015001.3(SPEN):c.3793C>T (p.Arg1265Ter) rs2071205857
NM_015001.3(SPEN):c.3976del (p.Lys1325_Ile1326insTer) rs2071207771
NM_015001.3(SPEN):c.6061del (p.Gln2020_Ile2021insTer)
NM_015001.3(SPEN):c.6641_6642del (p.Glu2214fs) rs2071236139
NM_015001.3(SPEN):c.6641del (p.Glu2214fs)
NM_015001.3(SPEN):c.6974_6975del (p.Leu2325fs) rs2071239657
NM_015001.3(SPEN):c.8732del (p.Lys2911fs)
NM_015021.3(ZNF292):c.2605dup (p.Arg869fs)
NM_015021.3(ZNF292):c.3724del (p.Gln1242fs) rs1775285095
NM_015021.3(ZNF292):c.3990del (p.Phe1330fs)
NM_015021.3(ZNF292):c.433del (p.Ser145fs) rs1772907934
NM_015021.3(ZNF292):c.4837C>T (p.Gln1613Ter)
NM_015021.3(ZNF292):c.4897A>T (p.Lys1633Ter) rs1775368255
NM_015021.3(ZNF292):c.5950_5956del (p.Ile1984fs)
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015046.7(SETX):c.3399dup (p.Gly1134fs) rs1554820931
NM_015046.7(SETX):c.5820del (p.Ala1941fs)
NM_015046.7(SETX):c.6421_6422del (p.Gln2141fs)
NM_015046.7(SETX):c.6729_6730del (p.His2243fs) rs752122764
NM_015046.7(SETX):c.900del (p.Gly301fs) rs1554822175
NM_015047.3(EMC1):c.2377-2A>G rs2093442517
NM_015065.3(EXPH5):c.3640del (p.Cys1214fs)
NM_015076.5(CDK19):c.586A>G (p.Thr196Ala) rs1779473650
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter) rs1557901051
NM_015100.4(POGZ):c.1807dup (p.Ser603fs)
NM_015100.4(POGZ):c.2020del (p.Arg674fs)
NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter) rs1654081712
NM_015100.4(POGZ):c.2309dup (p.Tyr770Ter)
NM_015100.4(POGZ):c.2712dup (p.Ala905fs) rs1553212978
NM_015100.4(POGZ):c.2729C>A (p.Ser910Ter) rs1313319892
NM_015100.4(POGZ):c.2780dup (p.Leu927fs) rs864321675
NM_015100.4(POGZ):c.2883dup (p.Gly962fs) rs1553212626
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter) rs864321674
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015100.4(POGZ):c.3356T>A (p.Leu1119Ter)
NM_015100.4(POGZ):c.343_344dup (p.Gly116fs)
NM_015107.3(PHF8):c.2225dup (p.Ser742fs) rs1557099144
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs) rs2146772952
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) rs1554504684
NM_015214.3(DDHD2):c.1877C>G (p.Ser626Ter)
NM_015215.4(CAMTA1):c.420del (p.Lys141fs) rs1553288266
NM_015215.4(CAMTA1):c.501G>A (p.Trp167Ter)
NM_015215.4(CAMTA1):c.766C>T (p.Gln256Ter) rs1553238271
NM_015294.6(TRIM37):c.1167C>G (p.Tyr389Ter) rs2040987609
NM_015294.6(TRIM37):c.1225_1228del (p.Phe409fs) rs761979292
NM_015295.3(SMCHD1):c.3274_3276+1del rs2075161459
NM_015335.5(MED13L):c.1361C>G (p.Ser454Ter) rs1555248020
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter) rs1555247936
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) rs1555247853
NM_015335.5(MED13L):c.2239-2A>G rs1555247469
NM_015335.5(MED13L):c.2762del (p.Gly920_Leu921insTer)
NM_015335.5(MED13L):c.293_294del (p.Ile98fs) rs1870200055
NM_015335.5(MED13L):c.3595_3596del (p.Arg1199fs)
NM_015335.5(MED13L):c.4087del (p.His1363fs)
NM_015335.5(MED13L):c.4921_4922del (p.Ser1641fs) rs1877448690
NM_015335.5(MED13L):c.5365-1G>A rs1876893450
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs) rs1876629983
NM_015335.5(MED13L):c.6280C>A (p.Pro2094Thr) rs1555240376
NM_015335.5(MED13L):c.6331C>T (p.Gln2111Ter) rs1555240361
NM_015335.5(MED13L):c.6336G>A (p.Trp2112Ter) rs1555240359
NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter) rs1555239936
NM_015338.6(ASXL1):c.1446dup (p.Val483fs) rs1555911515
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs) rs777537805
NM_015338.6(ASXL1):c.2763_2770delinsCAA (p.Val922fs) rs1555912285
NM_015338.6(ASXL1):c.2791del (p.Glu931fs) rs1555912296
NM_015338.6(ASXL1):c.3111G>A (p.Trp1037Ter) rs1555912419
NM_015338.6(ASXL1):c.3595_3596dup (p.Pro1200fs)
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs) rs1555912897
NM_015338.6(ASXL1):c.4243C>T (p.Arg1415Ter) rs754129466
NM_015346.4(ZFYVE26):c.3935C>A (p.Ser1312Ter) rs752283089
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter) rs869312914
NM_015355.4(SUZ12):c.361C>T (p.Arg121Ter) rs750383066
NM_015378.4(VPS13D):c.9757C>T (p.Arg3253Ter) rs2101602721
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg) rs1555575860
NM_015443.4(KANSL1):c.1039_1057del (p.Thr347fs) rs2046260021
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter) rs1427624649
NM_015443.4(KANSL1):c.1269del (p.Glu424fs) rs1555574888
NM_015443.4(KANSL1):c.2020+1G>A
NM_015443.4(KANSL1):c.2519C>A (p.Ser840Ter)
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_015465.5(GEMIN5):c.119del (p.Arg40fs)
NM_015465.5(GEMIN5):c.3429del (p.Ser1144fs)
NM_015465.5(GEMIN5):c.3931dup (p.Ser1311fs)
NM_015559.3(SETBP1):c.1408del (p.Lys469_Met470insTer) rs1555706391
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) rs1568235086
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015570.4(AUTS2):c.2075del (p.Gly692fs)
NM_015570.4(AUTS2):c.218del (p.Pro73fs)
NM_015570.4(AUTS2):c.856A>T (p.Lys286Ter) rs1554480487
NM_015570.4(AUTS2):c.976C>T (p.Gln326Ter) rs1789672491
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_015631.6(TCTN3):c.910dup (p.Thr304fs)
NM_015681.6(B9D1):c.307dup (p.Tyr103fs)
NM_015836.4(WARS2):c.313_317delinsG (p.Asn105fs)
NM_015898.4(ZBTB7A):c.522del (p.Ala175fs)
NM_015910.7(WDPCP):c.74del (p.Gln25fs)
NM_015937.6(PIGT):c.608_609del (p.Val203fs) rs777937565
NM_016023.5(OTUD6B):c.527_528del (p.Val176fs) rs1472577530
NM_016030.6(TRAPPC12):c.445C>T (p.Gln149Ter)
NM_016030.6(TRAPPC12):c.678dup (p.Phe227fs)
NM_016032.4(ZDHHC9):c.679del (p.Val226_Leu227insTer) rs1556004813
NM_016032.4(ZDHHC9):c.743dup (p.Leu249fs) rs1927671537
NM_016032.4(ZDHHC9):c.892C>T (p.Arg298Ter)
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.373_374del (p.Lys125fs) rs1793014648
NM_016038.4(SBDS):c.460-1G>A rs1792969582
NM_016038.4(SBDS):c.53_56dup (p.Met20fs)
NM_016038.4(SBDS):c.613C>T (p.Gln205Ter)
NM_016103.4(SAR1B):c.336del (p.Glu113fs) rs1765180391
NM_016121.5(KCTD3):c.648G>A (p.Trp216Ter)
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter) rs1863365049
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter) rs749597091
NM_016194.4(GNB5):c.666G>A (p.Trp222Ter)
NM_016219.5(MAN1B1):c.79dup (p.Ala27fs) rs1190243291
NM_016239.4(MYO15A):c.10373del (p.Leu3458fs) rs1310479415
NM_016239.4(MYO15A):c.1661dup (p.Leu555fs) rs1245338270
NM_016239.4(MYO15A):c.4057del (p.Leu1353fs) rs770991317
NM_016239.4(MYO15A):c.406_407insAGTT (p.Trp136Ter) rs1555537955
NM_016239.4(MYO15A):c.6440dup (p.Trp2148fs) rs1555545225
NM_016284.5(CNOT1):c.76C>T (p.Arg26Ter) rs1597562609
NM_016306.6(DNAJB11):c.724C>T (p.Arg242Ter)
NM_016327.3(UPB1):c.641del (p.Gly214fs)
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) rs1156904586
NM_016592.5(GNAS):c.263dup (p.His88fs) rs1555868362
NM_016614.3(TDP2):c.580_581del (p.Gln194fs)
NM_016628.5(WAC):c.263_266del (p.Glu88fs) rs864321689
NM_016628.5(WAC):c.305dup (p.His102fs)
NM_016628.5(WAC):c.374C>A (p.Ser125Ter) rs864321692
NM_016955.4(SEPSECS):c.612dup (p.Val205fs) rs1553881510
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_017547.4(FOXRED1):c.530_534del (p.Val177fs)
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017613.4(DONSON):c.916del (p.Leu306fs)
NM_017617.5(NOTCH1):c.3052del (p.Cys1018fs) rs1554728529
NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter) rs1554826746
NM_017635.5(KMT5B):c.2192del (p.Asn731fs)
NM_017635.5(KMT5B):c.658C>T (p.Arg220Ter) rs1555028206
NM_017635.5(KMT5B):c.780_781del (p.Ala261fs) rs1565226076
NM_017646.6(TRIT1):c.418del (p.Gln140fs)
NM_017654.4(SAMD9):c.2054G>A (p.Arg685Gln) rs1064795431
NM_017654.4(SAMD9):c.2920G>A (p.Glu974Lys) rs1554336981
NM_017662.5(TRPM6):c.143del (p.Asn48fs)
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter) rs727504103
NM_017755.6(NSUN2):c.1071G>A (p.Trp357Ter)
NM_017755.6(NSUN2):c.1346_1352del (p.Thr449fs)
NM_017755.6(NSUN2):c.191del (p.Gly64fs)
NM_017755.6(NSUN2):c.679C>T (p.Gln227Ter) rs387907190
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter) rs868442196
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017780.4(CHD7):c.1808dup (p.Asn603fs) rs1554588675
NM_017780.4(CHD7):c.2413del (p.Ile805fs)
NM_017780.4(CHD7):c.2544_2546delinsTG (p.Lys848fs)
NM_017780.4(CHD7):c.2867del (p.Ser956fs) rs1804068191
NM_017780.4(CHD7):c.2942del (p.Phe981fs)
NM_017780.4(CHD7):c.3065_3066dup (p.Ala1023fs) rs1804096857
NM_017780.4(CHD7):c.3221_3222insA (p.Tyr1075fs) rs1804153046
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.4(CHD7):c.3414_3430del (p.Gln1138fs) rs1554599036
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp) rs886040988
NM_017780.4(CHD7):c.3779-2A>G
NM_017780.4(CHD7):c.3839_3840del (p.Phe1280fs)
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4702del (p.Ala1567_Val1568insTer)
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter) rs797045467
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser) rs1554602465
NM_017780.4(CHD7):c.5114dup (p.Val1706fs) rs1554602564
NM_017780.4(CHD7):c.5167dup (p.Gln1723fs) rs797044919
NM_017780.4(CHD7):c.5251del (p.Glu1751fs)
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter) rs1805338299
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5426T>G (p.Met1809Arg) rs1554603550
NM_017780.4(CHD7):c.5534+1G>A rs1554603589
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter) rs1360515765
NM_017780.4(CHD7):c.613C>T (p.Gln205Ter) rs1809058275
NM_017780.4(CHD7):c.6143_6144del (p.Glu2048fs) rs1554604059
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter) rs875989879
NM_017780.4(CHD7):c.6426del (p.Ser2142_Leu2143insTer)
NM_017780.4(CHD7):c.6746del (p.Asp2249fs) rs1805570234
NM_017780.4(CHD7):c.7281dup (p.Arg2428fs) rs1554605030
NM_017780.4(CHD7):c.7764del (p.Asn2588fs) rs1805946988
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.7971+1G>A rs1554606274
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027
NM_017780.4(CHD7):c.917_921del (p.Asn306fs) rs1563560966
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) rs886041166
NM_017791.3(FLVCR2):c.721_731del (p.Glu241fs)
NM_017868.4(TTC12):c.283C>T (p.Arg95Ter)
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017934.7(PHIP):c.1317dup (p.Ile440fs) rs1770802469
NM_017934.7(PHIP):c.2363del (p.Lys788fs)
NM_017934.7(PHIP):c.5054_5063delinsGGATT (p.Glu1685fs)
NM_017934.7(PHIP):c.923+1G>A rs1771354257
NM_017951.5(SMPD4):c.-67_-66del
NM_017988.6(SCYL2):c.298C>T (p.Arg100Ter)
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018122.5(DARS2):c.127+1G>A rs869312918
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)
NM_018129.4(PNPO):c.399G>A (p.Trp133Ter) rs766311956
NM_018131.5(CEP55):c.1191+2T>C rs1002854345
NM_018136.5(ASPM):c.1386C>G (p.Tyr462Ter) rs1553227742
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs) rs1170413397
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.4117del (p.Tyr1373fs)
NM_018136.5(ASPM):c.4583del (p.Lys1528fs) rs199422164
NM_018136.5(ASPM):c.6152del (p.Gln2051fs) rs1189399471
NM_018136.5(ASPM):c.6841_6844del (p.Arg2281fs)
NM_018136.5(ASPM):c.7491_7495del (p.Thr2499fs) rs199422172
NM_018136.5(ASPM):c.7581_7585del (p.Tyr2527_Arg2529delinsTer) rs765530357
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8988-1G>C rs1553326645
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter) rs1482100822
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_018255.4(ELP2):c.1741_1742del (p.Leu581fs)
NM_018297.4(NGLY1):c.1107G>A (p.Trp369Ter)
NM_018297.4(NGLY1):c.1242del (p.Asn415fs) rs1575616394
NM_018297.4(NGLY1):c.1756C>T (p.Arg586Ter)
NM_018297.4(NGLY1):c.39del (p.Ser14fs) rs1553666033
NM_018451.5(CENPJ):c.2328dup (p.Val777fs)
NM_018486.3(HDAC8):c.416G>C (p.Gly139Ala) rs878853048
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) rs886041936
NM_018486.3(HDAC8):c.755_761del (p.Tyr252fs) rs1555993215
NM_018489.3(ASH1L):c.1651G>T (p.Gly551Ter)
NM_018489.3(ASH1L):c.1984_1985del (p.Ile662fs)
NM_018489.3(ASH1L):c.2021_2025del (p.Ser674fs) rs1665902242
NM_018489.3(ASH1L):c.6366C>A (p.Cys2122Ter)
NM_018489.3(ASH1L):c.7603C>T (p.Arg2535Ter)
NM_018669.6(WDR4):c.779_786del (p.Leu260fs)
NM_018684.4(ZC4H2):c.148C>T (p.Gln50Ter) rs797044863
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs) rs1929136990
NM_018684.4(ZC4H2):c.362del (p.Pro121fs)
NM_018684.4(ZC4H2):c.450dup (p.Ile151fs) rs1555933851
NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp) rs879255236
NM_018706.7(DHTKD1):c.2583G>A (p.Trp861Ter)
NM_018718.3(CEP41):c.33+1G>A
NM_018723.4(RBFOX1):c.353G>A (p.Arg118Gln) rs1057521725
NM_018941.4(CLN8):c.703del (p.Val236fs) rs761621368
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) rs1014959895
NM_019023.5(PRMT7):c.471del (p.Ser158fs) rs770567326
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_019026.6(TMCO1):c.391C>T (p.Arg131Ter) rs1247427997
NM_019042.5(PUS7):c.393_397del (p.Glu132fs)
NM_019066.5(MAGEL2):c.1601del (p.Pro534fs) rs1890397401
NM_019066.5(MAGEL2):c.1906C>T (p.Gln636Ter) rs765424967
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.5(MAGEL2):c.1923dup (p.Val643fs)
NM_019066.5(MAGEL2):c.1944del (p.Gln650fs) rs1890386731
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.3122del (p.Val1041fs) rs1555374117
NM_019098.5(CNGB3):c.339-4415_673del
NM_019108.4(SMG9):c.787G>T (p.Glu263Ter)
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020066.5(FMN2):c.4414G>T (p.Glu1472Ter)
NM_020191.4(MRPS22):c.373C>T (p.Arg125Ter)
NM_020312.4(COQ9):c.521+2T>C
NM_020320.5(RARS2):c.1163del (p.Gly388fs)
NM_020320.5(RARS2):c.500_503del (p.Arg167fs) rs1782401252
NM_020338.4(ZMIZ1):c.1372C>T (p.Gln458Ter) rs1853909290
NM_020338.4(ZMIZ1):c.2194G>T (p.Glu732Ter)
NM_020435.4(GJC2):c.80G>A (p.Trp27Ter) rs1553262429
NM_020442.6(VARS2):c.1219C>T (p.Arg407Ter)
NM_020461.4(TUBGCP6):c.2747del (p.Pro916fs)
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs) rs1057516904
NM_020533.3(MCOLN1):c.641dup (p.Ser214fs)
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)
NM_020680.4(SCYL1):c.1039C>T (p.Gln347Ter) rs1855366408
NM_020680.4(SCYL1):c.1346_1347del (p.Thr449fs) rs773812714
NM_020680.4(SCYL1):c.2066_2067del (p.Pro689fs) rs759830598
NM_020680.4(SCYL1):c.560del (p.Pro187fs)
NM_020699.4(GATAD2B):c.1408C>T (p.Gln470Ter) rs587776931
NM_020699.4(GATAD2B):c.1444C>T (p.Gln482Ter) rs946006593
NM_020699.4(GATAD2B):c.229G>T (p.Glu77Ter)
NM_020699.4(GATAD2B):c.271_274dup (p.Ala92fs) rs1674944862
NM_020699.4(GATAD2B):c.453dup (p.Glu152fs)
NM_020699.4(GATAD2B):c.520C>T (p.Arg174Ter) rs1674577139
NM_020699.4(GATAD2B):c.818dup (p.Gln274fs)
NM_020706.2(SCAF4):c.1411C>T (p.Arg471Ter)
NM_020706.2(SCAF4):c.1648dup (p.Met550fs)
NM_020706.2(SCAF4):c.852del (p.Val285fs)
NM_020719.3(PRR12):c.2345_2348del (p.Leu782fs)
NM_020719.3(PRR12):c.2946dup (p.Gly983fs)
NM_020719.3(PRR12):c.3241del (p.Leu1081fs) rs2080782573
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
NM_020791.4(TAOK1):c.1390dup (p.Met464fs)
NM_020791.4(TAOK1):c.2083C>T (p.Arg695Ter) rs2031936282
NM_020791.4(TAOK1):c.2104C>T (p.Arg702Ter) rs1481295744
NM_020812.4(DOCK6):c.4480G>T (p.Glu1494Ter) rs568049240
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020843.4(SCAPER):c.2436del (p.Arg814fs)
NM_020919.4(ALS2):c.4897C>T (p.Gln1633Ter) rs797044934
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020964.3(EPG5):c.3949_3952del (p.Leu1317fs)
NM_020964.3(EPG5):c.5314A>T (p.Lys1772Ter)
NM_020971.3(SPTBN4):c.1813C>T (p.Gln605Ter) rs2080330778
NM_020971.3(SPTBN4):c.2052_2071dup (p.Leu691fs) rs1555815437
NM_020971.3(SPTBN4):c.3829del (p.Gln1277fs) rs2080555011
NM_020975.6(RET):c.1425dup (p.Pro476fs) rs1554818540
NM_020987.5(ANK3):c.855dup (p.Leu286fs)
NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg) rs869312939
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) rs1555499800
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) rs886039494
NM_020988.3(GNAO1):c.626G>A (p.Arg209His) rs797044878
NM_020988.3(GNAO1):c.723+1G>A rs1596872804
NM_020988.3(GNAO1):c.724-8G>A rs1085307876
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) rs797044951
NM_021005.4(NR2F2):c.1097G>C (p.Arg366Pro) rs1555447465
NM_021005.4(NR2F2):c.64C>T (p.Gln22Ter) rs1555446980
NM_021005.4(NR2F2):c.775C>T (p.Gln259Ter)
NM_021008.4(DEAF1):c.576C>A (p.Tyr192Ter) rs1554944527
NM_021074.5(NDUFV2):c.491_492insGT (p.Pro165fs)
NM_021083.4(XK):c.1015A>T (p.Lys339Ter) rs1556450491
NM_021120.4(DLG3):c.351T>A (p.Tyr117Ter) rs1241142887
NM_021120.4(DLG3):c.546_549del (p.Val183fs)
NM_021120.4(DLG3):c.631C>T (p.Arg211Ter) rs1213060424
NM_021222.3(PRUNE1):c.3_7dup (p.Asp3fs) rs1553251507
NM_021222.3(PRUNE1):c.661del (p.Ala221fs) rs1553253812
NM_021224.6(ZNF462):c.3305dup (p.Gln1103fs)
NM_021224.6(ZNF462):c.6214_6215del (p.His2072fs) rs1830599035
NM_021619.3(PRDM12):c.514G>T (p.Glu172Ter)
NM_021620.4(PRDM13):c.639_655dup (p.Gln219fs)
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.5(TRPV4):c.2204T>G (p.Leu735Arg) rs1555205335
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021728.4(OTX2):c.226C>T (p.Arg76Ter) rs773157352
NM_021926.4(ALX4):c.793C>T (p.Arg265Ter) rs267606653
NM_021939.4(FKBP10):c.1343_1344del (p.Val448fs) rs797044852
NM_021942.6(TRAPPC11):c.1190G>A (p.Trp397Ter)
NM_021942.6(TRAPPC11):c.2567_2568del (p.Tyr856fs) rs1579207748
NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr) rs1790057505
NM_022041.4(GAN):c.1112_1124delinsGA (p.Glu371fs)
NM_022041.4(GAN):c.432C>G (p.Tyr144Ter) rs1555511101
NM_022072.5(NSUN3):c.150G>A (p.Trp50Ter)
NM_022089.4(ATP13A2):c.212G>A (p.Trp71Ter) rs373607247
NM_022089.4(ATP13A2):c.2487del (p.Phe830fs)
NM_022089.4(ATP13A2):c.604del (p.His202fs)
NM_022095.4(ZNF335):c.3332G>T (p.Arg1111Leu) rs397514642
NM_022095.4(ZNF335):c.757dup (p.Arg253fs) rs1555851216
NM_022114.4(PRDM16):c.2595dup (p.Ile866fs) rs1643715509
NM_022124.6(CDH23):c.1428dup (p.Thr477fs) rs750803248
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) rs866435331
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) rs759981467
NM_022167.4(XYLT2):c.692dup (p.Val232fs) rs797044806
NM_022370.4(ROBO3):c.571dup (p.Arg191fs) rs756837590
NM_022455.5(NSD1):c.1084dup (p.Arg362fs)
NM_022455.5(NSD1):c.1702_1703insAG (p.Phe568Ter) rs1554189042
NM_022455.5(NSD1):c.2209dup (p.Thr737fs) rs1763260541
NM_022455.5(NSD1):c.2555_2556del (p.Ile852fs) rs1763290288
NM_022455.5(NSD1):c.2575_2576del (p.His859fs)
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs) rs1131691754
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs) rs587784092
NM_022455.5(NSD1):c.3451_3452del (p.Val1151fs) rs1554190262
NM_022455.5(NSD1):c.3788del (p.Pro1263fs) rs1763397665
NM_022455.5(NSD1):c.3891del (p.Lys1297fs) rs1765403726
NM_022455.5(NSD1):c.4192+2T>G rs587784111
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.5(NSD1):c.4651A>T (p.Lys1551Ter)
NM_022455.5(NSD1):c.4949_4950del (p.Asn1650fs) rs1554199501
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter) rs2149918110
NM_022455.5(NSD1):c.5257A>T (p.Lys1753Ter)
NM_022455.5(NSD1):c.5622+1G>A
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022489.4(INF2):c.383T>C (p.Leu128Pro) rs387907037
NM_022489.4(INF2):c.395T>C (p.Leu132Pro) rs387907038
NM_022552.5(DNMT3A):c.1238dup (p.Phe414fs) rs755744291
NM_022552.5(DNMT3A):c.1405G>T (p.Glu469Ter)
NM_022552.5(DNMT3A):c.2037del (p.Lys680fs) rs1365479526
NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln) rs757823678
NM_022552.5(DNMT3A):c.2580G>A (p.Trp860Ter)
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022552.5(DNMT3A):c.892G>T (p.Gly298Trp) rs797044904
NM_022786.3(ARV1):c.148del (p.His50fs)
NM_022786.3(ARV1):c.674-2A>T rs1192627743
NM_022893.4(BCL11A):c.385+2T>C rs1553352926
NM_022893.4(BCL11A):c.56-1G>C rs1553353092
NM_023067.4(FOXL2):c.576dup (p.Lys193fs) rs1057516161
NM_023083.4(CAPN10):c.837_858dup (p.Ala287fs) rs1559425580
NM_024079.5(ALG8):c.309dup (p.Leu104fs)
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024298.5(MBOAT7):c.676_679dup (p.Leu227fs)
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del) rs750035706
NM_024312.5(GNPTAB):c.1959_1960del (p.Pro655fs) rs1429181351
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024339.5(THOC6):c.838del (p.Val280fs) rs2072826485
NM_024417.5(FDXR):c.778_779dup (p.Leu260fs)
NM_024496.4(IRF2BPL):c.1040dup (p.Gln348fs)
NM_024496.4(IRF2BPL):c.2116_2117delinsT (p.Pro706fs)
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) rs1345176461
NM_024529.5(CDC73):c.2T>C (p.Met1Thr) rs1553277483
NM_024537.4(CARS2):c.1068dup (p.Asp357Ter)
NM_024537.4(CARS2):c.1360dup (p.Ile454fs) rs1555342802
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter) rs1318388071
NM_024577.4(SH3TC2):c.3115del (p.Glu1039fs)
NM_024580.6(EFL1):c.2005C>T (p.Arg669Ter) rs2141235535
NM_024656.4(COLGALT1):c.25_37del (p.Arg9fs)
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.39_46del (p.Ala14fs) rs1555202806
NM_024753.5(TTC21B):c.1656_1659del (p.Leu551_Cys552insTer) rs2105329247
NM_024757.5(EHMT1):c.1311G>A (p.Trp437Ter) rs1949206105
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter) rs1588553447
NM_024757.5(EHMT1):c.2188dup (p.Glu730fs) rs1554879633
NM_024757.5(EHMT1):c.2193-1G>C rs137852720
NM_024757.5(EHMT1):c.2483_2488delinsGA (p.Ala828fs)
NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter) rs1429360126
NM_024757.5(EHMT1):c.3321_3324del (p.Cys1109fs) rs1954889657
NM_024757.5(EHMT1):c.3321_3326delinsTT (p.Ala1108fs) rs1554897852
NM_024757.5(EHMT1):c.3346C>T (p.Arg1116Ter) rs749848324
NM_024757.5(EHMT1):c.749_750delinsG (p.Leu250fs)
NM_024818.6(UBA5):c.129_130insGG (p.Ser44fs) rs766932828
NM_024989.4(PGAP1):c.2199del (p.Phe734_Leu735insTer)
NM_024989.4(PGAP1):c.668del (p.Asn223fs) rs1702538795
NM_025009.5(CEP135):c.1733T>G (p.Leu578Ter)
NM_025074.7(FRAS1):c.8098+2T>A rs786205570
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.373G>T (p.Glu125Ter) rs2040371663
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs) rs757609119
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs) rs312262764
NM_025137.4(SPG11):c.1151G>A (p.Trp384Ter)
NM_025137.4(SPG11):c.1203del (p.Asp402fs) rs312262722
NM_025137.4(SPG11):c.1819_1822delinsAT (p.Ser607fs)
NM_025137.4(SPG11):c.190C>T (p.Gln64Ter)
NM_025137.4(SPG11):c.276_285del (p.Arg93fs) rs747220413
NM_025137.4(SPG11):c.3213_3214insCCCT (p.Val1072fs) rs767798272
NM_025137.4(SPG11):c.4291del (p.Leu1431fs)
NM_025137.4(SPG11):c.5255del (p.Phe1752fs) rs312262763
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer) rs1323156960
NM_025137.4(SPG11):c.5972del (p.Cys1991fs) rs2082503070
NM_025137.4(SPG11):c.6635dup (p.Gly2213fs)
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_025137.4(SPG11):c.7063_7073dup (p.Lys2358_Gly2359insTer) rs2082272406
NM_025137.4(SPG11):c.817_820dup (p.Val274fs) rs2084963365
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala) rs121917884
NM_025265.4(TSEN2):c.215C>A (p.Ser72Ter)
NM_030632.3(ASXL3):c.1271del (p.Pro424fs)
NM_030632.3(ASXL3):c.1316C>G (p.Ser439Ter) rs2067592710
NM_030632.3(ASXL3):c.1354del (p.Glu452fs) rs1555742087
NM_030632.3(ASXL3):c.1389_1390del (p.Cys463_Glu464delinsTer) rs2067594520
NM_030632.3(ASXL3):c.1479_1480insTGCT (p.Pro494fs) rs2067597366
NM_030632.3(ASXL3):c.1612G>T (p.Glu538Ter) rs2067601254
NM_030632.3(ASXL3):c.1802dup (p.Leu602fs) rs2067607133
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs) rs1555742500
NM_030632.3(ASXL3):c.3039+1G>A rs1555743003
NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs) rs2067694467
NM_030632.3(ASXL3):c.3332_3333del (p.Phe1111fs) rs2067695073
NM_030665.4(RAI1):c.1490del (p.Leu497fs) rs2032151441
NM_030665.4(RAI1):c.153T>A (p.Tyr51Ter) rs961308480
NM_030665.4(RAI1):c.1670_1671del (p.Ser557fs) rs1555565243
NM_030665.4(RAI1):c.2234_2237del (p.Ala745fs) rs1555565426
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs) rs1135401792
NM_030665.4(RAI1):c.3920_3924delinsATG (p.Arg1307fs)
NM_030665.4(RAI1):c.3937dup (p.Ala1313fs)
NM_030665.4(RAI1):c.4432del (p.Arg1478fs) rs2032300575
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter) rs866294686
NM_030962.4(SBF2):c.229C>T (p.Arg77Ter)
NM_030962.4(SBF2):c.3706C>T (p.Gln1236Ter)
NM_030973.4(MED25):c.781_791del (p.Pro261fs)
NM_030973.4(MED25):c.924del (p.Leu309fs) rs2074049374
NM_031229.4(RBCK1):c.748dup (p.Tyr250fs)
NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter) rs1554698878
NM_031263.4(HNRNPK):c.875del (p.Pro292fs) rs1956866167
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_031844.3(HNRNPU):c.1085del (p.Gly362fs) rs1680764227
NM_031844.3(HNRNPU):c.1086del (p.Trp363fs) rs1680764134
NM_031844.3(HNRNPU):c.2085dup (p.Gly696fs) rs1553282235
NM_031844.3(HNRNPU):c.2217_2218del (p.Gly740fs)
NM_031844.3(HNRNPU):c.310dup (p.Met104fs)
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_031921.6(ATAD3B):c.511C>T (p.Arg171Ter)
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter) rs797044962
NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter) rs782397980
NM_032436.4(CHAMP1):c.1559_1560del (p.Ser520fs) rs2087233948
NM_032436.4(CHAMP1):c.1952C>G (p.Ser651Ter) rs1555379911
NM_032588.4(TRIM63):c.481_482del (p.Ser161fs) rs540072010
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_032590.5(KDM2B):c.1847G>T (p.Cys616Phe)
NM_032620.4(GTPBP3):c.12del (p.Leu5fs)
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032756.4(HPDL):c.163_164del (p.Leu55fs)
NM_032756.4(HPDL):c.698_699insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC (p.Leu234fs)
NM_032756.4(HPDL):c.759dup (p.Pro254fs)
NM_032756.4(HPDL):c.789del (p.Pro264fs)
NM_032793.5(MFSD2A):c.456C>A (p.Cys152Ter)
NM_032861.4(SERAC1):c.966del (p.Ile322fs)
NM_032888.4(COL27A1):c.371del (p.Leu124fs) rs1554787366
NM_032888.4(COL27A1):c.5185C>T (p.Gln1729Ter) rs1554829390
NM_032982.4(CASP2):c.1156del (p.Tyr386fs)
NM_032982.4(CASP2):c.1174C>T (p.Gln392Ter)
NM_032982.4(CASP2):c.130C>T (p.Arg44Ter)
NM_032982.4(CASP2):c.876+1G>T
NM_033109.5(PNPT1):c.1390C>T (p.Arg464Ter) rs2627765
NM_033109.5(PNPT1):c.887_888del (p.Tyr296fs)
NM_033116.6(NEK9):c.2239C>T (p.Gln747Ter)
NM_033380.3(COL4A5):c.1832del (p.Pro611fs)
NM_033380.3(COL4A5):c.2780del (p.Leu927fs)
NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del) rs1556421106
NM_033380.3(COL4A5):c.4220del (p.Pro1407fs)
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) rs778363575
NM_033409.4(SLC52A3):c.753del (p.Val252fs) rs1568721373
NM_033409.4(SLC52A3):c.775C>T (p.Gln259Ter)
NM_033419.5(PGAP3):c.205A>T (p.Lys69Ter)
NM_033517.1(SHANK3):c.3379delinsCC (p.Ser1127fs) rs1555910140
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052867.4(NALCN):c.4197+1G>A rs869312952
NM_052874.5(STX1B):c.733C>T (p.Arg245Ter) rs780843272
NM_052988.5(CDK10):c.178del (p.Gln60fs) rs2060399733
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer) rs762515373
NM_057175.5(NAA15):c.1447C>T (p.Gln483Ter)
NM_057175.5(NAA15):c.168_169del (p.Asn57fs) rs1747217573
NM_057175.5(NAA15):c.2077C>T (p.Gln693Ter)
NM_057175.5(NAA15):c.2298_2299dup (p.Ser767fs)
NM_057175.5(NAA15):c.326G>A (p.Trp109Ter)
NM_078480.3(PUF60):c.376del (p.Ala126fs) rs1554643598
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_078480.3(PUF60):c.496del (p.Thr166fs) rs1554643463
NM_078480.3(PUF60):c.510+1G>T rs1816618311
NM_078480.3(PUF60):c.608dup (p.Arg204fs) rs1816568888
NM_078629.4(MSL3):c.1125_1141dup (p.Met381fs) rs2053175099
NM_078629.4(MSL3):c.1208del (p.Pro403fs) rs1555907215
NM_078629.4(MSL3):c.1360C>T (p.Gln454Ter) rs2053238794
NM_078629.4(MSL3):c.709_715dup (p.Asn239fs) rs2053146273
NM_080632.3(UPF3B):c.16G>T (p.Glu6Ter)
NM_080916.3(DGUOK):c.487del (p.Asp163fs)
NM_130466.4(UBE3B):c.1956+1G>A rs1304422857
NM_130837.3(OPA1):c.1499G>C (p.Arg500Pro) rs80356529
NM_130837.3(OPA1):c.2661+1G>A rs794727392
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs) rs587781192
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter) rs587781196
NM_130839.5(UBE3A):c.1314_1402del (p.Lys438fs) rs1555400067
NM_130839.5(UBE3A):c.1318_1321delinsATAAAC (p.Leu440fs)
NM_130839.5(UBE3A):c.1782del (p.Lys594fs) rs1555391286
NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser) rs587784521
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs) rs864309508
NM_130839.5(UBE3A):c.237_238del (p.Leu79_Cys80insTer)
NM_130839.5(UBE3A):c.2403CTT[1] (p.Phe802del) rs1555380820
NM_130839.5(UBE3A):c.2461_2470del (p.Leu820_Lys821insTer) rs1566825063
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130849.4(SLC39A4):c.1023_1475-7del
NM_130849.4(SLC39A4):c.1465_1474+4del rs782563835
NM_133259.4(LRPPRC):c.1474C>T (p.Arg492Ter)
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter) rs1554015303
NM_133433.4(NIPBL):c.3937dup (p.Thr1313fs)
NM_133433.4(NIPBL):c.4560+2_4560+5del
NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer) rs1554024009
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter) rs80358362
NM_133433.4(NIPBL):c.6679_6682del (p.Val2227fs) rs2149737037
NM_133433.4(NIPBL):c.7400_7401insT (p.Phe2468fs) rs1754205019
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.7861-1G>A
NM_134261.3(RORA):c.1268_1291delinsAT (p.Phe423fs)
NM_134261.3(RORA):c.184A>T (p.Lys62Ter)
NM_138459.5(NUS1):c.104G>A (p.Trp35Ter) rs1582461039
NM_138459.5(NUS1):c.443T>A (p.Leu148Ter) rs1773264138
NM_138576.4(BCL11B):c.1192_1196dup (p.Lys400fs) rs1555376295
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs) rs1886427331
NM_138576.4(BCL11B):c.238C>T (p.Gln80Ter) rs1555384301
NM_138576.4(BCL11B):c.721C>T (p.Gln241Ter) rs1314314373
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys) rs1085307451
NM_138773.4(SLC25A46):c.11_12insTG (p.Arg5fs) rs1064795772
NM_138773.4(SLC25A46):c.273del (p.Gln92fs) rs1022269942
NM_138927.4(SON):c.237_243del (p.Arg78_Tyr79insTer) rs2085617270
NM_138927.4(SON):c.2650C>T (p.Gln884Ter) rs2085802432
NM_138927.4(SON):c.3088_3094del (p.Glu1030fs)
NM_138927.4(SON):c.3287dup (p.Tyr1096Ter)
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.4(SON):c.384del (p.Lys128fs) rs778418096
NM_138927.4(SON):c.384dup (p.Tyr129fs) rs778418096
NM_138927.4(SON):c.4774_4777del (p.Thr1592fs) rs1555899177
NM_138927.4(SON):c.4777_4778del (p.Leu1593fs) rs2085890040
NM_138927.4(SON):c.5038G>T (p.Glu1680Ter) rs1555899242
NM_138927.4(SON):c.5058dup (p.Glu1687fs) rs2085901333
NM_138927.4(SON):c.5495_5497del (p.Ser1832_Glu1833delinsTer) rs1555899379
NM_138927.4(SON):c.5549_5550del (p.Arg1850fs) rs886039774
NM_138927.4(SON):c.5717_5720del (p.Arg1906fs) rs1382415023
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.357_391del (p.Gly120fs)
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup) rs1569395541
NM_139058.3(ARX):c.922G>T (p.Glu308Ter) rs1556055108
NM_139125.4(MASP1):c.1039del (p.Ile347fs)
NM_139276.3(STAT3):c.995A>T (p.His332Leu)
NM_139315.3(TAF6):c.958C>T (p.Arg320Ter) rs1457450946
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) rs587777164
NM_144508.5(KNL1):c.4693_4696del (p.Asn1565fs)
NM_144563.3(RPIA):c.451C>T (p.Arg151Ter) rs760452079
NM_144596.4(TTC8):c.1228del (p.Gly409_Ile410insTer)
NM_144991.3(TSPEAR):c.1676_1677del (p.Tyr559fs) rs781890406
NM_145045.5(ODAD3):c.1060C>T (p.Gln354Ter) rs1555721837
NM_145207.3(AFG2A):c.2215dup (p.Ser739fs)
NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs) rs1900074141
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs) rs1064793851
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.710del (p.Gly237fs)
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2425G>C (p.Ala809Pro)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2771T>C (p.Leu924Pro) rs1555859157
NM_152416.4(NDUFAF6):c.485dup (p.Asn162fs) rs762093523
NM_152416.4(NDUFAF6):c.561C>G (p.Tyr187Ter) rs1085307635
NM_152419.3(HGSNAT):c.1455dup (p.Gly486fs)
NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter) rs137852217
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs) rs1816414644
NM_152564.5(VPS13B):c.11655del (p.Val3886fs) rs1212294259
NM_152564.5(VPS13B):c.1279G>T (p.Glu427Ter) rs1809981172
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter) rs869312923
NM_152564.5(VPS13B):c.351del (p.Lys117fs)
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.5387_5390dup (p.Arg1799fs) rs1554884733
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6748C>T (p.Gln2250Ter) rs1014496937
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152594.3(SPRED1):c.493dup (p.Ser165fs) rs1555392032
NM_152641.4(ARID2):c.1332del (p.Asp444fs) rs1943290352
NM_152641.4(ARID2):c.167_171del (p.Thr56fs)
NM_152641.4(ARID2):c.2814_2815del (p.Tyr939fs) rs1943537473
NM_152641.4(ARID2):c.3442_3445del (p.Leu1148fs) rs1555155263
NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs) rs727505362
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152906.7(TANGO2):c.451+2T>A rs2047264129
NM_152906.7(TANGO2):c.605+1G>C rs372949028
NM_153006.3(NAGS):c.1097-1G>C rs2143989613
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter) rs750811871
NM_153252.5(BRWD3):c.3886C>T (p.Gln1296Ter) rs2072535700
NM_153252.5(BRWD3):c.4576G>T (p.Gly1526Ter)
NM_153252.5(BRWD3):c.746G>A (p.Trp249Ter)
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_170606.3(KMT2C):c.11316_11317del (p.Gly3773fs)
NM_170606.3(KMT2C):c.14318del (p.Val4773fs)
NM_170606.3(KMT2C):c.3989T>G (p.Leu1330Ter)
NM_170606.3(KMT2C):c.4870_4871insTC (p.Gly1624fs) rs2093658427
NM_170606.3(KMT2C):c.7123C>T (p.Gln2375Ter)
NM_170675.5(MEIS2):c.520C>T (p.Arg174Ter) rs1555471981
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) rs1595790647
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro) rs1553262007
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) rs58917027
NM_170784.3(MKKS):c.845dup (p.Leu283fs) rs1555801973
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter) rs1185859533
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.1823del (p.Pro608fs) rs2145497168
NM_172107.4(KCNQ2):c.2114del (p.Pro705fs) rs1555850868
NM_172107.4(KCNQ2):c.2126_2127del (p.Pro709fs) rs796052667
NM_172107.4(KCNQ2):c.401del (p.Ile134fs)
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro) rs796052620
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.693G>T (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.710A>G (p.Tyr237Cys) rs797044935
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter) rs118192208
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172232.4(ABCA5):c.4320+1G>C rs199753304
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_173495.3(PTCHD1):c.1835_1839delinsGAA (p.Met612fs) rs797044922
NM_173495.3(PTCHD1):c.590_603del (p.Val197fs) rs1555912049
NM_173582.6(PGM2L1):c.1303G>T (p.Glu435Ter)
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.28del (p.Gln10fs) rs1560200925
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_176787.5(PIGN):c.1675-1G>T rs772411133
NM_176787.5(PIGN):c.1837C>T (p.Arg613Ter) rs765995917
NM_176787.5(PIGN):c.1940del (p.Lys647fs) rs1555682938
NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter) rs1726067442
NM_176824.3(BBS7):c.174del (p.Phe58fs) rs1726987563
NM_176869.3(PPA2):c.540T>A (p.Cys180Ter)
NM_177559.3(CSNK2A1):c.383T>A (p.Leu128Ter) rs2018374647
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_177559.3(CSNK2A1):c.783C>A (p.Tyr261Ter) rs1555761969
NM_177924.5(ASAH1):c.457+4A>G rs767864356
NM_178012.5(TUBB2B):c.421G>A (p.Gly141Ser) rs1412515838
NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys) rs587777357
NM_178014.4(TUBB):c.895A>G (p.Met299Val) rs587777355
NM_181303.2(NLGN3):c.214dup (p.Val72fs) rs34927195
NM_181332.3(NLGN4X):c.1747C>T (p.Arg583Trp) rs1555913640
NM_181332.3(NLGN4X):c.334dup (p.Gln112fs)
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181552.4(CUX1):c.1558C>T (p.Gln520Ter) rs1794867368
NM_181882.3(PRX):c.231C>G (p.Tyr77Ter) rs752192677
NM_182641.4(BPTF):c.1447dup (p.Thr483fs) rs2059397603
NM_182641.4(BPTF):c.2346_2349del (p.Thr783fs) rs2061265539
NM_182641.4(BPTF):c.2366del (p.Asn789fs) rs1555639076
NM_182641.4(BPTF):c.255del (p.Ser86fs) rs1598050118
NM_182641.4(BPTF):c.2598dup (p.Glu867fs) rs753044214
NM_182641.4(BPTF):c.7037_7040dup (p.Gln2348fs)
NM_182931.3(KMT2E):c.1016del (p.Asn339fs) rs1797572218
NM_182931.3(KMT2E):c.2337C>A (p.Tyr779Ter) rs541493300
NM_182931.3(KMT2E):c.2620C>T (p.Arg874Ter) rs1584803745
NM_182931.3(KMT2E):c.2632C>T (p.Gln878Ter)
NM_182931.3(KMT2E):c.2960_2964del (p.Asn986_Leu987insTer) rs1798957076
NM_182931.3(KMT2E):c.3198_3234del (p.Trp1067fs) rs1798970895
NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs) rs1243172283
NM_182931.3(KMT2E):c.871C>T (p.Gln291Ter)
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) rs794727986
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) rs398124581
NM_183075.3(CYP2U1):c.1210_1211del (p.Glu404fs) rs767024102
NM_183235.3(RAB27A):c.377del (p.Pro126fs) rs1895696380
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_183357.3(ADCY5):c.1312dup (p.Arg438fs) rs1553732126
NM_183357.3(ADCY5):c.1425C>G (p.Ile475Met) rs757156390
NM_183357.3(ADCY5):c.409_428del (p.Gly137fs) rs1553751262
NM_183357.3(ADCY5):c.409_428dup (p.Ser145fs) rs1553751262
NM_194277.3(FRMD7):c.3G>A (p.Met1Ile) rs1929193313
NM_194279.4(ISCA2):c.139G>T (p.Glu47Ter)
NM_194292.3(SASS6):c.1186dup (p.Thr396fs) rs1193888919
NM_194318.4(B3GLCT):c.335del (p.Pro112fs) rs2137805318
NM_197968.4(ZMYM2):c.1026_1027del (p.Gln342fs)
NM_197968.4(ZMYM2):c.1129A>T (p.Lys377Ter)
NM_197968.4(ZMYM2):c.1615del (p.Cys539fs)
NM_197968.4(ZMYM2):c.2338C>T (p.Arg780Ter) rs757669327
NM_197968.4(ZMYM2):c.2727dup (p.Val910fs)
NM_197968.4(ZMYM2):c.391C>T (p.Gln131Ter)
NM_197968.4(ZMYM2):c.569T>G (p.Leu190Ter)
NM_198173.3(GRHL3):c.934C>T (p.Gln312Ter)
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) rs781986930
NM_198239.2(CCN6):c.879dup (p.Thr294fs) rs1554314738
NM_198525.3(KIF7):c.2530G>T (p.Glu844Ter)
NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs) rs1376687924
NM_198880.3(QRICH1):c.1292dup (p.Pro432fs) rs2106903309
NM_198880.3(QRICH1):c.1828G>T (p.Glu610Ter)
NM_198880.3(QRICH1):c.259C>T (p.Gln87Ter)
NM_198880.3(QRICH1):c.325C>T (p.Gln109Ter)
NM_198880.3(QRICH1):c.400C>T (p.Gln134Ter)
NM_198904.4(GABRG2):c.212_215del (p.Asn71fs)
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln) rs397514737
NM_199334.5(THRA):c.1137del (p.Cys380fs) rs746765465
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) rs564754426
NM_201253.3(CRB1):c.57dup (p.Ile20fs) rs1343680080
NM_203446.3(SYNJ1):c.1821del (p.Gln608fs) rs1057524879
NM_203446.3(SYNJ1):c.3248-2A>G rs1057524880
NM_203447.4(DOCK8):c.918_919insTTGAACT (p.Asp310fs) rs1064793335
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter) rs1114167283
NM_203475.3(PORCN):c.566G>A (p.Trp189Ter) rs2147124229
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)
NM_205768.3(ZBTB18):c.1035_1039del (p.Glu345fs) rs1553270522
NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter) rs875989786
NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser) rs797044885
NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter) rs1064792999
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter) rs1553250072
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_206937.2(LIG4):c.613del (p.Ser205fs) rs780879476
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207037.2(TCF12):c.1483del (p.Glu495fs)
NM_207037.2(TCF12):c.1540dup (p.Ser514fs)
NM_207037.2(TCF12):c.798T>G (p.Tyr266Ter) rs1417620080
NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter) rs570580540
NM_207122.2(EXT2):c.829G>T (p.Gly277Ter)
NM_207346.3(TSEN54):c.856_862dup (p.Val288fs)
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter) rs4774518
NM_212482.4(FN1):c.3051G>T (p.Trp1017Cys) rs797044906
NM_213655.5(WNK1):c.2228_2229dup (p.Thr744fs) rs1307515994
NM_213655.5(WNK1):c.2673_2674del (p.Ala891_Ser892insTer)
NM_213655.5(WNK1):c.2898_2899del (p.Gln966fs) rs1951859185
NM_213655.5(WNK1):c.3274C>T (p.Gln1092Ter)
NM_213655.5(WNK1):c.3492dup (p.Asp1165Ter) rs1951913764

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