ClinVar Miner

List of variants reported by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 1244
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_017886.4(ULK4):c.2056G>A (p.Val686Ile) rs77615850 0.00402
NM_017886.4(ULK4):c.2887G>A (p.Val963Met) rs188590896 0.00385
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_003737.4(DCHS1):c.3158G>C (p.Trp1053Ser) rs138340204 0.00335
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_017886.4(ULK4):c.2584C>T (p.Arg862Ter) rs199884004 0.00282
NM_001330078.2(NRXN1):c.3365-110131T>G rs193267438 0.00279
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_004771.4(MMP20):c.954-2A>T rs140213840 0.00224
NM_014801.4(PCNX2):c.3526C>T (p.His1176Tyr) rs188041996 0.00224
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_144666.3(DNHD1):c.5617C>A (p.Arg1873Ser) rs575635539 0.00166
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_183065.4(TMEM107):c.*759C>T rs201787275 0.00162
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys) rs147499593 0.00144
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_024105.4(ALG12):c.319G>A (p.Val107Met) rs147784926 0.00066
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_001292063.2(OTOG):c.4770G>T (p.Arg1590Ser) rs147052893 0.00054
NM_201378.4(PLEC):c.71-11866G>A rs199505812 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_014687.4(RUBCN):c.397C>T (p.His133Tyr) rs201876836 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser) rs140430952 0.00041
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter) rs121908002 0.00035
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_001332.4(CTNND2):c.671C>T (p.Pro224Leu) rs769623284 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000400.4(ERCC2):c.462C>G (p.His154Gln) rs139263710 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000484.4(APP):c.742G>A (p.Asp248Asn) rs200103591 0.00028
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys) rs137910235 0.00026
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys) rs139194636 0.00024
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_018136.5(ASPM):c.8558G>A (p.Arg2853Gln) rs148245202 0.00020
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) rs140159323 0.00019
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443 0.00018
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) rs138846118 0.00016
NM_025233.7(COASY):c.1064C>T (p.Pro355Leu) rs373975726 0.00016
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys) rs201278558 0.00012
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_001110.4(ADAM10):c.359T>C (p.Ile120Thr) rs144890810 0.00010
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00009
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_007325.5(GRIA3):c.580G>A (p.Gly194Arg) rs189437004 0.00009
NM_001040192.3(DNAJC28):c.502G>T (p.Glu168Ter) rs147358478 0.00008
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052 0.00008
NM_002471.4(MYH6):c.4666G>A (p.Glu1556Lys) rs148582147 0.00007
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln) rs149595793 0.00007
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360 0.00006
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile) rs201587923 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_000836.4(GRIN2D):c.2888G>A (p.Arg963His) rs964725459 0.00006
NM_001360.3(DHCR7):c.-146C>T rs903720947 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) rs763915229 0.00006
NM_003124.5(SPR):c.751A>T (p.Lys251Ter) rs121917747 0.00006
NM_003401.5(XRCC4):c.640G>A (p.Glu214Lys) rs746407658 0.00006
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly) rs142217951 0.00006
NM_017799.4(TMEM260):c.377C>T (p.Ala126Val) rs1447833652 0.00006
NM_019616.4(F7):c.364+1G>A rs1056071555 0.00006
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584 0.00006
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) rs367579275 0.00006
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu) rs779432560 0.00006
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001286577.2(C2CD3):c.5929C>T (p.Arg1977Ter) rs748668786 0.00005
NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs) rs751050956 0.00005
NM_005371.6(METTL1):c.326G>A (p.Arg109Gln) rs768213849 0.00005
NM_007325.5(GRIA3):c.466T>C (p.Tyr156His) rs144902457 0.00005
NM_024870.4(PREX2):c.428G>A (p.Arg143Gln) rs745857499 0.00005
NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp) rs746691776 0.00004
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133 0.00004
NM_000113.3(TOR1A):c.719T>C (p.Leu240Ser) rs377358943 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000426.4(LAMA2):c.4118C>T (p.Pro1373Leu) rs754163400 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_001172560.3(SSTR5):c.293C>T (p.Thr98Met) rs761743016 0.00004
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter) rs374894037 0.00004
NM_001384125.1(BLTP1):c.11707C>T (p.His3903Tyr) rs755836698 0.00004
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys) rs201563456 0.00004
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His) rs773714478 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_006828.4(ASCC3):c.2763del (p.Leu922fs) rs1462303140 0.00004
NM_006828.4(ASCC3):c.281C>T (p.Ala94Val) rs143119831 0.00004
NM_017775.4(TTC19):c.583C>T (p.Gln195Ter) rs764720544 0.00004
NM_019112.4(ABCA7):c.5035G>T (p.Glu1679Ter) rs770510230 0.00004
NM_020137.5(GRIPAP1):c.1105G>C (p.Glu369Gln) rs782702449 0.00004
NM_145691.4(ATPAF2):c.133+1G>T rs147941728 0.00004
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs) rs749240175 0.00004
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu) rs1057518979 0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278 0.00003
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu) rs372617572 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met) rs189650890 0.00003
NM_001142864.4(PIEZO1):c.1264C>T (p.Gln422Ter) rs934897228 0.00003
NM_001145648.3(RASGRF1):c.1523G>T (p.Gly508Val) rs148722229 0.00003
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715 0.00003
NM_001253852.3(AP4B1):c.319C>T (p.Arg107Trp) rs74361335 0.00003
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460 0.00003
NM_001277062.2(MFF):c.284del (p.Thr95fs) rs1285225437 0.00003
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817 0.00003
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_003737.4(DCHS1):c.4114G>A (p.Gly1372Ser) rs869312675 0.00003
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu) rs398124131 0.00003
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) rs431905509 0.00003
NM_007289.4(MME):c.1904G>A (p.Gly635Asp) rs151302020 0.00003
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter) rs1057519563 0.00003
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) rs373145711 0.00003
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) rs878853271 0.00003
NM_017799.4(TMEM260):c.1869+1G>A rs141599092 0.00003
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter) rs368115694 0.00003
NM_018685.5(ANLN):c.1291C>T (p.Arg431Cys) rs587777741 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_025233.7(COASY):c.701-2A>C rs1022433060 0.00003
NM_139058.3(ARX):c.166A>G (p.Ser56Gly) rs144098296 0.00003
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met) rs781959472 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000341.4(SLC3A1):c.1500+1G>T rs886042834 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) rs587782681 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) rs786203115 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001142864.4(PIEZO1):c.2492C>T (p.Ser831Leu) rs1471934686 0.00002
NM_001145118.2(GRID2IP):c.429+2T>G rs1413118387 0.00002
NM_001282225.2(ADA2):c.336C>G (p.His112Gln) rs587777241 0.00002
NM_001360.3(DHCR7):c.99-16G>A rs993275449 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001371986.1(UNC80):c.6805G>A (p.Asp2269Asn) rs886041094 0.00002
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter) rs759125480 0.00002
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu) rs1467772045 0.00002
NM_001378778.1(MPDZ):c.4003+1G>A rs767038098 0.00002
NM_001605.3(AARS1):c.618G>T (p.Gln206His) rs139785247 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter) rs752254977 0.00002
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp) rs757075255 0.00002
NM_005085.4(NUP214):c.3344C>T (p.Thr1115Met) rs377273494 0.00002
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) rs74315512 0.00002
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_019026.6(TMCO1):c.187C>T (p.Arg63Ter) rs765824628 0.00002
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272 0.00002
NM_020975.6(RET):c.2449C>T (p.Arg817Cys) rs142318626 0.00002
NM_024105.4(ALG12):c.470-3C>T rs751546611 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_133178.4(PTPRU):c.3649G>C (p.Gly1217Arg) rs80083765 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_201599.3(ZMYM3):c.3371G>A (p.Arg1124Gln) rs761267440 0.00002
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) rs80358556 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp) rs777323132 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000142.5(FGFR3):c.1210A>G (p.Lys404Glu) rs780415133 0.00001
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp) rs118204094 0.00001
NM_000212.3(ITGB3):c.1132C>T (p.Arg378Cys) rs774332906 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895 0.00001
NM_000303.3(PMM2):c.66+1G>T rs937726878 0.00001
NM_000310.4(PPT1):c.776dup (p.Glu260fs) rs1349528345 0.00001
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439 0.00001
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352 0.00001
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter) rs1064794083 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.8310+1G>T rs1970380121 0.00001
NM_001012279.3(SOGA3):c.2289C>G (p.Asp763Glu) rs1583082725 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001080517.3(SETD5):c.538C>T (p.Arg180Cys) rs753185558 0.00001
NM_001145648.3(RASGRF1):c.604G>A (p.Asp202Asn) rs769851165 0.00001
NM_001171613.2(PREPL):c.1244T>C (p.Leu415Ser) rs1430753619 0.00001
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter) rs199927859 0.00001
NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr) rs1177728492 0.00001
NM_001205293.3(CACNA1E):c.1231C>T (p.Arg411Ter) rs1484841139 0.00001
NM_001256627.2(BRSK2):c.1861C>T (p.Arg621Cys) rs1198947199 0.00001
NM_001282874.2(SMARCA1):c.2161G>A (p.Asp721Asn) rs766401027 0.00001
NM_001369268.1(ACAN):c.955G>A (p.Gly319Ser) rs1044441746 0.00001
NM_001371072.1(USP11):c.2420G>A (p.Arg807Gln) rs2055439072 0.00001
NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs) rs747068627 0.00001
NM_001666.5(ARHGAP4):c.926T>G (p.Val309Gly) rs1293728849 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_002161.6(IARS1):c.1622C>T (p.Pro541Leu) rs1286974333 0.00001
NM_002478.5(MYOD1):c.188C>A (p.Ser63Ter) rs147517396 0.00001
NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn) rs1242600175 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs) rs753338285 0.00001
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter) rs1304140510 0.00001
NM_004859.4(CLTC):c.1195C>T (p.Arg399Cys) rs954500638 0.00001
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp) rs770344400 0.00001
NM_005188.4(CBL):c.1139T>C (p.Leu380Pro) rs1377506801 0.00001
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr) rs1424516740 0.00001
NM_005371.6(METTL1):c.370C>T (p.Arg124Cys) rs755626987 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_006421.5(ARFGEF1):c.2650A>G (p.Met884Val) rs1490604083 0.00001
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly) rs1050933017 0.00001
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu) rs1302959508 0.00001
NM_007289.4(MME):c.1241A>G (p.Tyr414Cys) rs202095767 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014044.7(UNC50):c.360A>G (p.Ile120Met) rs750243321 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_014619.5(GRIK4):c.1856G>A (p.Arg619His) rs534517447 0.00001
NM_015213.4(DENND5A):c.3629G>A (p.Arg1210Gln) rs1057519564 0.00001
NM_015512.5(DNAH1):c.3772C>T (p.Gln1258Ter) rs1415820936 0.00001
NM_015836.4(WARS2):c.715C>T (p.Arg239Ter) rs757600616 0.00001
NM_016032.4(ZDHHC9):c.893G>A (p.Arg298Gln) rs869312679 0.00001
NM_016203.4(PRKAG2):c.547G>A (p.Glu183Lys) rs1131692281 0.00001
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys) rs1247438528 0.00001
NM_017780.4(CHD7):c.5404+5G>A rs1255859560 0.00001
NM_017934.7(PHIP):c.2368C>T (p.Gln790Ter) rs1582175173 0.00001
NM_017934.7(PHIP):c.3706C>T (p.Arg1236Ter) rs1554196416 0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958 0.00001
NM_020549.5(CHAT):c.1211C>T (p.Ala404Val) rs192592698 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_021930.6(RINT1):c.1285C>A (p.Leu429Ile) rs1790880304 0.00001
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu) rs397509426 0.00001
NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys) rs769419803 0.00001
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) rs765061840 0.00001
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506 0.00001
NM_031407.7(HUWE1):c.659C>T (p.Thr220Ile) rs782119109 0.00001
NM_032977.4(CASP10):c.1159C>G (p.Pro387Ala) rs759782468 0.00001
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286 0.00001
NM_152393.4(KLHL40):c.100G>C (p.Asp34His) rs778565563 0.00001
NM_153365.3(TAPT1):c.1032G>T (p.Met344Ile) rs1338086129 0.00001
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) rs774694340 0.00001
NM_182961.4(SYNE1):c.26152A>G (p.Arg8718Gly) rs151281204 0.00001
NM_201378.4(PLEC):c.71-11602G>A rs374484619 0.00001
GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1
GRCh37/hg19 10q21.3(chr10:66337001-67764000)x3
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3
GRCh37/hg19 14q23.3(chr14:66881928-67493801)x1
GRCh37/hg19 14q32.2(chr14:101201380-101290903)x1
GRCh37/hg19 15q11.2(chr15:22746948-23323445)x1
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
GRCh37/hg19 15q11.2-13.1(chr15:23707435-28726651)x1
GRCh37/hg19 15q13.1-13.2(chr15:28940039-30366124)x3
GRCh37/hg19 15q13.1-13.3(chr15:28780392-32784132)x1
GRCh37/hg19 15q13.2-13.3(chr15:30783603-32914393)x1
GRCh37/hg19 15q13.2-13.3(chr15:30819465-32509926)x1
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1
GRCh37/hg19 15q26.3(chr15:99389874-99438394)x1
GRCh37/hg19 16p11.2(chr16:29443322-30320321)x3
GRCh37/hg19 16p11.2(chr16:29448001-30302100)
GRCh37/hg19 16p11.2(chr16:29545794-30307472)x1
GRCh37/hg19 16p11.2(chr16:29565626-30221925)x1
GRCh37/hg19 16p11.2(chr16:29592797-30190593)x3
GRCh37/hg19 16p11.2(chr16:29601322-30201321)x1
GRCh37/hg19 16p12.2(chr16:21936726-22461225)x1
GRCh37/hg19 16p13.11(chr16:14886858-16328857)x3
GRCh37/hg19 16p13.11(chr16:14968855-16251122)x1
GRCh37/hg19 16p13.2(chr16:10031605-10033175)x1
GRCh37/hg19 16p13.2(chr16:8281005-9010923)x3
GRCh37/hg19 16p13.2(chr16:8852764-9388125)x3
GRCh37/hg19 16p13.3(chr16:96766-137939)x1
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3
GRCh37/hg19 17p11.2(chr17:17104302-17690077)x3
GRCh37/hg19 17p11.2(chr17:17117620-17118776)x1
GRCh37/hg19 17p12(chr17:14093318-15476314)x3
GRCh37/hg19 17p12(chr17:14111754-15442178)x1
GRCh37/hg19 17p12(chr17:14111754-15442178)x3
GRCh37/hg19 17p12(chr17:15027001-15183000)x3
GRCh37/hg19 17p13.1(chr17:7411849-7413057)x1
GRCh37/hg19 17p13.3(chr17:1479954-1585094)x1
GRCh37/hg19 17q21.2(chr17:40842168-40846218)x1
GRCh37/hg19 17q23.1(chr17:57664487-57682800)x1
GRCh37/hg19 18p11.32(chr18:10001-1322185)
GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1
GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1
GRCh37/hg19 19q12(chr19:30928351-30935204)x1
GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3
GRCh37/hg19 1q21.1(chr1:145347631-145833118)x1
GRCh37/hg19 1q21.1-21.2(chr1:146500000-149500001)x3
GRCh37/hg19 1q43(chr1:237219730-238406325)x1
GRCh37/hg19 1q44(chr1:245476101-246429005)x3
GRCh37/hg19 20q13.12(chr20:42981187-42987120)x1
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3
GRCh37/hg19 22q11.1-11.21(chr22:16850000-18885000)x3
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3
GRCh37/hg19 22q11.21(chr22:18628147-21722313)x3
GRCh37/hg19 22q11.21(chr22:18661699-21457610)x1
GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1
GRCh37/hg19 22q11.21(chr22:18765102-21661435)x1
GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1
GRCh37/hg19 22q11.21(chr22:18884714-21483289)x1
GRCh37/hg19 22q11.21(chr22:18889969-21462658)x1
GRCh37/hg19 22q11.21(chr22:20737912-21465659)x3
GRCh37/hg19 22q11.21(chr22:20754407-21457610)x1
GRCh37/hg19 22q11.21(chr22:21081284-21457610)x1
GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3
GRCh37/hg19 2p15(chr2:63521229-63572056)x1
GRCh37/hg19 2q13(chr2:111368818-113065741)x3
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3
GRCh37/hg19 3p26.3(chr3:227001-2211981)
GRCh37/hg19 3q29(chr3:195693872-197376871)x3
GRCh37/hg19 4p16.3(chr4:1420948-1836794)x3
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1
GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1
GRCh37/hg19 4q35.2(chr4:188898012-190542602)x1
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3
GRCh37/hg19 5p14.3(chr5:19101001-20164000)x3
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1
GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1
GRCh37/hg19 6p25.3(chr6:152849-1888703)x1
GRCh37/hg19 6q21(chr6:109796301-113083437)x3
GRCh37/hg19 6q22.1-22.31(chr6:117951874-119112156)x1
GRCh37/hg19 7p13(chr7:45058501-45136990)x1
GRCh37/hg19 7p21.2(chr7:13998001-15227144)x3
GRCh37/hg19 7q11.21(chr7:62495083-64927758)x1
GRCh37/hg19 7q36.2-36.3(chr7:152800000-159138663)x1
GRCh37/hg19 8p22(chr8:15721096-16208574)x3
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1
GRCh37/hg19 8q24.3(chr8:144902401-144905800)x1
GRCh37/hg19 9p24.3-24.2(chr9:204090-2430905)x1
GRCh37/hg19 9q21.33(chr9:88201316-88224515)x1
GRCh37/hg19 9q34.3(chr9:139356644-139427066)x1
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3
GRCh37/hg19 Xp22.12(chrX:20007752-20498564)x0
GRCh37/hg19 Xp22.2(chrX:10578932-11326337)x2
GRCh37/hg19 Xp22.31(chrX:6453324-8136507)x0
GRCh37/hg19 Xp22.33(chrX:480367-862460)x3
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1
GRCh37/hg19 Xq13.1(chrX:70386654-70743623)x2
GRCh37/hg19 Xq21.1(chrX:79979500-81247449)x2
GRCh37/hg19 Xq24(chrX:118679335-118744405)x0
GRCh37/hg19 Xq26.1-26.2(chrX:130085469-130482969)x0
GRCh37/hg19 Yp11.32-11.2(chrY:10701-5080415)x2
GRCh38/hg38 20p13(chr20:453176-822262)x1
NC_012920.1:m.13094T>C rs1603224029
NC_012920.1:m.3243A>G rs199474657
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter) rs1172677213
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000059.4(BRCA2):c.1736T>G (p.Leu579Ter) rs1131692274
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.4(BRCA2):c.3201del (p.Val1068fs) rs864622672
NM_000059.4(BRCA2):c.3689del (p.Ser1230fs) rs80359398
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs) rs953686324
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000094.4(COL7A1):c.3376_3386del (p.Tyr1126fs) rs765699235
NM_000113.3(TOR1A):c.304G>A (p.Gly102Arg)
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000113.3(TOR1A):c.949A>T (p.Lys317Ter) rs1564181992
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu) rs77543610
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter) rs794727774
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser) rs777571608
NM_000168.6(GLI3):c.1343C>T (p.Ala448Val) rs912576738
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) rs1057520063
NM_000168.6(GLI3):c.758A>G (p.Asp253Gly) rs2128741235
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000179.3(MSH6):c.1634_1637del (p.Lys545fs) rs63749874
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs) rs193922343
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs) rs267608128
NM_000193.4(SHH):c.100_101del (p.Arg34fs) rs1584806077
NM_000207.2(INS):c.-187_-164del rs1135401727
NM_000214.3(JAG1):c.2675G>A (p.Cys892Tyr)
NM_000214.3(JAG1):c.588C>A (p.Cys196Ter) rs1801138
NM_000216.4(ANOS1):c.1354+1del rs764687970
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000228.3(LAMB3):c.1423G>A (p.Gly475Ser)
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.4(MLH1):c.955G>T (p.Glu319Ter) rs63750796
NM_000251.3(MSH2):c.1708del (p.Tyr570fs) rs1131692279
NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter) rs63751155
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000257.4(MYH7):c.1217_1218del (p.Val406fs) rs1892824277
NM_000257.4(MYH7):c.2341C>A (p.Leu781Met) rs1348730180
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000266.4(NDP):c.220C>T (p.Arg74Cys) rs727504031
NM_000275.3(OCA2):c.2055del (p.Phe685fs) rs772595552
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter) rs1602819835
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.461A>G (p.His154Arg) rs1131692230
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter) rs2147180742
NM_000284.4(PDHA1):c.630G>T (p.Met210Ile) rs2147180753
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala) rs1602231489
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del) rs886039898
NM_000310.4(PPT1):c.442G>T (p.Gly148Ter) rs2124484378
NM_000314.8(PTEN):c.389del (p.Arg130fs) rs121913292
NM_000314.8(PTEN):c.470A>G (p.Glu157Gly) rs1085308051
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000368.5(TSC1):c.1237del (p.Gln413fs) rs1588321344
NM_000381.4(MID1):c.1495G>A (p.Val499Met) rs868016081
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)
NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter) rs2034113963
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.872del (p.Thr291fs) rs1574818832
NM_000466.3(PEX1):c.1966C>T (p.Pro656Ser)
NM_000484.4(APP):c.1090C>T (p.Leu364Phe) rs749453173
NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg) rs2148625660
NM_000489.6(ATRX):c.1423C>T (p.His475Tyr) rs146863015
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg) rs2145874187
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.1925+1G>C rs1967488222
NM_000540.3(RYR1):c.2411C>T (p.Pro804Leu) rs1057524519
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met) rs796052571
NM_000834.5(GRIN2B):c.2045G>A (p.Arg682His) rs886041095
NM_000834.5(GRIN2B):c.2053A>C (p.Thr685Pro) rs869312669
NM_000924.4(PDE1B):c.256C>T (p.Gln86Ter)
NM_000924.4(PDE1B):c.735+5G>A
NM_000937.5(POLR2A):c.1166C>G (p.Thr389Ser) rs1597795846
NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs) rs1559662068
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del) rs1553697341
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001003800.2(BICD2):c.2320G>A (p.Glu774Lys) rs1131691347
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter) rs193922673
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005273.3(CHD3):c.4280G>A (p.Trp1427Ter) rs1555613750
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr) rs2145978260
NM_001007157.2(PHF14):c.964T>G (p.Cys322Gly) rs2128310303
NM_001008537.3(NEXMIF):c.2999_3000del (p.Ser1000fs) rs875989829
NM_001009999.3(KDM1A):c.1720A>G (p.Lys574Glu) rs1553131717
NM_001012426.2(FOXP4):c.193del (p.Gln65fs) rs1562018111
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001024383.2(NAV3):c.4600T>G (p.Ser1534Ala)
NM_001024383.2(NAV3):c.664C>T (p.Gln222Ter)
NM_001029896.2(WDR45):c.516+5G>A
NM_001029896.2(WDR45):c.611G>A (p.Gly204Asp) rs878855326
NM_001029896.2(WDR45):c.973+1G>A rs869312661
NM_001032221.6(STXBP1):c.451_454del (p.Asp151fs)
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001035.3(RYR2):c.2139G>A (p.Trp713Ter) rs2150449007
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037442.4(RUFY3):c.764dup (p.Gln256fs) rs869312879
NM_001039469.3(MARK2):c.1931G>T (p.Arg644Leu)
NM_001039469.3(MARK2):c.581T>C (p.Phe194Ser) rs1940729976
NM_001039469.3(MARK2):c.904C>T (p.Arg302Ter) rs1468332923
NM_001039591.3(USP9X):c.4817A>G (p.Asp1606Gly) rs2063039248
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr) rs1057518373
NM_001040142.2(SCN2A):c.3399+3359C>A
NM_001040142.2(SCN2A):c.4468A>G (p.Met1490Val) rs869312663
NM_001040142.2(SCN2A):c.4644G>C (p.Met1548Ile) rs1574746759
NM_001040142.2(SCN2A):c.4726G>A (p.Gly1576Arg) rs869312664
NM_001042492.3(NF1):c.1722-2A>G rs763983337
NM_001042492.3(NF1):c.1845+1G>A rs1567845945
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile) rs2151461937
NM_001042492.3(NF1):c.587-2A>G rs1057518360
NM_001042603.3(KDM5A):c.4557A>T (p.Glu1519Asp)
NM_001042681.2(RERE):c.14A>G (p.Lys5Arg) rs1553128615
NM_001047160.3(NET1):c.839A>G (p.Lys280Arg) rs869312683
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077415.3(CRELD1):c.726G>T (p.Lys242Asn) rs911089166
NM_001079559.3(HNRNPUL2):c.642C>A (p.Tyr214Ter) rs1590900583
NM_001079872.2(CUL4B):c.2523G>C (p.Lys841Asn) rs1556181426
NM_001081550.2(THOC2):c.2366G>A (p.Ser789Asn)
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1486G>T (p.Gly496Cys) rs1599570613
NM_001083962.2(TCF4):c.294del (p.Arg99fs) rs1603483654
NM_001083962.2(TCF4):c.850C>T (p.His284Tyr) rs869312695
NM_001083962.2(TCF4):c.919_922+2delinsGTCCC rs1555789019
NM_001083962.2(TCF4):c.978delinsGG (p.Ala327fs) rs863223404
NM_001101.5(ACTB):c.812C>T (p.Ser271Phe) rs1784805528
NM_001105244.2(PTPRM):c.1749A>G (p.Ile583Met) rs2090405367
NM_001105539.3(ZBTB10):c.466C>T (p.Arg156Ter) rs2131466699
NM_001110556.2(FLNA):c.623-8C>A rs111542756
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.63-6C>G rs267608411
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111125.3(IQSEC2):c.4015C>T (p.Pro1339Ser) rs1602257111
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) rs2057948502
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
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.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg) rs2144595037
NM_001127222.2(CACNA1A):c.6091G>C (p.Val2031Leu)
NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val) rs1555773757
NM_001127392.3(MYRF):c.1200C>A (p.Asn400Lys) rs1565295267
NM_001127392.3(MYRF):c.2074C>G (p.Leu692Val) rs1162309498
NM_001127392.3(MYRF):c.2572+1G>A rs2066528136
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001127649.3(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_001130004.2(ACTN1):c.2201A>G (p.Gln734Arg) rs1555343284
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile) rs387907345
NM_001130438.3(SPTAN1):c.73C>T (p.Arg25Ter) rs2132957934
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) rs398123781
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly) rs869312681
NM_001134673.4(NFIA):c.250C>T (p.Arg84Ter) rs1553149185
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001142966.3(GREB1L):c.157+1del rs2040417979
NM_001142966.3(GREB1L):c.3977del (p.Lys1326fs) rs2145944441
NM_001142966.3(GREB1L):c.3983del (p.Gly1328fs) rs2145944530
NM_001143854.2(RPH3A):c.1349C>G (p.Thr450Ser) rs869312710
NM_001148.6(ANK2):c.11046del (p.Gln3683fs) rs878853166
NM_001161352.2(KCNMA1):c.2594G>A (p.Arg865His) rs2152943638
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser) rs1565091862
NM_001164508.2(NEB):c.20401G>T (p.Gly6801Ter) rs1405498595
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met) rs140035595
NM_001165963.4(SCN1A):c.2648T>C (p.Ile883Thr) rs2105808409
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3704del (p.Leu1235fs) rs869312670
NM_001165963.4(SCN1A):c.4002+2420G>A
NM_001165963.4(SCN1A):c.4002+2451G>C rs869312684
NM_001165963.4(SCN1A):c.4002+2543A>G
NM_001165963.4(SCN1A):c.4003-603T>C
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr) rs886039464
NM_001171876.2(MCF2):c.2462G>T (p.Gly821Val)
NM_001172509.2(SATB2):c.1131_1132del (p.Ser378fs) rs875989830
NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter) rs878853163
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001173464.2(KIF21A):c.706C>T (p.Gln236Ter) rs267603451
NM_001173464.2(KIF21A):c.847C>T (p.Arg283Cys)
NM_001184749.3(SLITRK4):c.611G>A (p.Arg204His)
NM_001184880.2(PCDH19):c.2008G>C (p.Glu670Gln)
NM_001190274.2(FBXO11):c.1576G>A (p.Ala526Thr) rs1572785471
NM_001190274.2(FBXO11):c.2666A>T (p.Asp889Val)
NM_001193511.2(MAP3K12):c.1099A>G (p.Ser367Gly)
NM_001197104.2(KMT2A):c.11587G>A (p.Gly3863Ser) rs1591311290
NM_001197104.2(KMT2A):c.8149del (p.Ile2717fs) rs1131692268
NM_001199013.2(STPG1):c.738-3255C>T rs1641311517
NM_001200.4(BMP2):c.939G>A (p.Trp313Ter) rs1600173481
NM_001205293.3(CACNA1E):c.1580_1581delinsAA (p.Met527Lys) rs1572690989
NM_001205293.3(CACNA1E):c.3544C>T (p.Arg1182Cys) rs759093976
NM_001205293.3(CACNA1E):c.5764C>T (p.Gln1922Ter) rs1558390377
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
NM_001242896.3(DEPDC5):c.4097G>T (p.Arg1366Leu) rs1064795095
NM_001244008.2(KIF1A):c.265T>G (p.Tyr89Asp) rs869312711
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001256012.3(MYH10):c.2338C>T (p.Arg780Ter) rs757650929
NM_001256627.2(BRSK2):c.1532_1533del (p.Glu511fs) rs1135402760
NM_001256627.2(BRSK2):c.530+1G>A rs1554904159
NM_001256627.2(BRSK2):c.635G>A (p.Gly212Glu) rs1554904772
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001271.4(CHD2):c.1552del (p.Gln518fs) rs869312705
NM_001271.4(CHD2):c.3787dup (p.Val1263fs) rs869312877
NM_001273.5(CHD4):c.2978A>G (p.Asn993Ser) rs1592273799
NM_001273.5(CHD4):c.2993A>T (p.Asn998Ile)
NM_001278116.2(L1CAM):c.1268-1G>A rs1603275538
NM_001282225.2(ADA2):c.1082-1113del rs1568968051
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2318dup (p.Tyr774fs) rs1057518978
NM_001282531.3(ADNP):c.517C>T (p.Arg173Ter) rs1135401791
NM_001282531.3(ADNP):c.736C>T (p.Arg246Cys) rs2122760828
NM_001282874.2(SMARCA1):c.1874A>G (p.Asp625Gly) rs1934065144
NM_001282874.2(SMARCA1):c.2354A>G (p.Asn785Ser) rs1933619118
NM_001286577.2(C2CD3):c.185G>C (p.Arg62Pro) rs138748539
NM_001287491.2(TET3):c.5231G>A (p.Arg1744His)
NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys) rs1757092904
NM_001290047.2(CECR2):c.2281C>T (p.Arg761Ter) rs2147031368
NM_001291415.2(KDM6A):c.4317T>A (p.Tyr1439Ter) rs1603068073
NM_001292034.3(TAB2):c.203T>C (p.Ile68Thr)
NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser) rs2150159210
NM_001303052.2(MYT1L):c.1559T>C (p.Leu520Pro) rs1057519560
NM_001306089.2(ZNF236):c.700A>G (p.Lys234Glu) rs2122623348
NM_001312909.2(FAM111A):c.931A>T (p.Ile311Phe) rs145826377
NM_001318852.2(MAPK8IP3):c.2450C>A (p.Ala817Asp) rs1555458045
NM_001320.7(CSNK2B):c.202C>T (p.Gln68Ter) rs2151187172
NM_001320.7(CSNK2B):c.229G>T (p.Glu77Ter) rs1583608433
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001326342.2(CELF2):c.289T>G (p.Phe97Val)
NM_001330260.2(SCN8A):c.3295G>A (p.Ala1099Thr) rs1592151654
NM_001330260.2(SCN8A):c.3942+248C>G
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.5276A>G (p.Asn1759Ser) rs869312690
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr) rs1592387849
NM_001330360.2(POLA1):c.3046A>G (p.Thr1016Ala) rs2045884607
NM_001330683.2(TTC3):c.5557G>A (p.Val1853Met) rs2084866145
NM_001330700.2(TOP2B):c.3451C>G (p.Leu1151Val) rs1702479861
NM_001332.4(CTNND2):c.762C>G (p.Tyr254Ter) rs1131692267
NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter) rs869312708
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter) rs1057516030
NM_001348716.2(KDM6B):c.3945-2A>T rs2151379290
NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)
NM_001356.5(DDX3X):c.1171-2A>C rs2147356545
NM_001356.5(DDX3X):c.619C>T (p.Gln207Ter) rs869312692
NM_001356.5(DDX3X):c.745G>T (p.Glu249Ter) rs752738546
NM_001358.3(DHX15):c.1327A>G (p.Lys443Glu)
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365068.1(ASTN2):c.3598+1G>A
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001366521.1(ATP2B1):c.1907_1908del (p.Val636fs) rs2136050284
NM_001367479.1(DNAH14):c.3406A>C (p.Lys1136Gln)
NM_001367479.1(DNAH14):c.5237T>C (p.Leu1746Ser)
NM_001367721.1(CASK):c.1997dup (p.Asn666fs) rs1602253464
NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp) rs2135097306
NM_001368894.2(PAX6):c.341G>A (p.Trp114Ter) rs1554985320
NM_001369.3(DNAH5):c.11028+5G>A rs1419129615
NM_001369268.1(ACAN):c.37del (p.Val13fs) rs1596128744
NM_001369268.1(ACAN):c.600C>G (p.Asp200Glu) rs550550807
NM_001369268.1(ACAN):c.613_616dup (p.Asp206delinsGlyTer) rs2141567062
NM_001369268.1(ACAN):c.6697C>T (p.His2233Tyr) rs1596148604
NM_001369369.1(FOXN1):c.1364_1367del (p.Tyr455fs) rs2151499024
NM_001370100.5(ZMYND11):c.22C>T (p.Arg8Ter) rs1060499626
NM_001370785.2(LRRC7):c.4700T>A (p.Leu1567Gln)
NM_001371928.1(AHDC1):c.2229del (p.Ser744fs) rs886039900
NM_001372044.2(SHANK3):c.1235C>G rs869312715
NM_001372044.2(SHANK3):c.3388del (p.Glu1130fs) rs2146830613
NM_001372044.2(SHANK3):c.3389del (p.Glu1130fs)
NM_001372044.2(SHANK3):c.3988dup (p.Arg1330fs) rs1603447135
NM_001372044.2(SHANK3):c.4904C>G (p.Ser1635Trp)
NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu) rs151344527
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) rs397507473
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs) rs1778944605
NM_001374828.1(ARID1B):c.2452C>T (p.Gln818Ter) rs869312712
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter) rs1554236040
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.6469C>T (p.Gln2157Ter) rs869312697
NM_001375380.1(EBF3):c.1128+1G>T rs797046136
NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu) rs869312668
NM_001375380.1(EBF3):c.636+1G>A rs1589767274
NM_001375405.1(CEP120):c.226A>G (p.Lys76Glu) rs1311902826
NM_001375912.1(ZNF532):c.3444dup (p.Val1149fs) rs2147793377
NM_001376.5(DYNC1H1):c.10573C>T (p.Arg3525Cys) rs869312693
NM_001376.5(DYNC1H1):c.10939C>G (p.Pro3647Ala) rs2152594696
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.2868+2_2868+5delinsCCACAAA rs2141276717
NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)
NM_001376571.1(MADD):c.3070C>T (p.Gln1024Ter) rs148016422
NM_001377265.1(MAPT):c.2350A>G (p.Ile784Val) rs991713081
NM_001378328.1(CELSR1):c.8719dup (p.Asp2907fs) rs751828682
NM_001378418.1(TCF20):c.5385_5386del (p.Cys1795fs) rs869312678
NM_001378452.1(ITPR1):c.2354T>A (p.Leu785His) rs2125214071
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser) rs1559671950
NM_001378452.1(ITPR1):c.7605_7606del (p.Thr2535_Cys2536insTer) rs2106492882
NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu) rs869312685
NM_001379029.1(CERT1):c.905C>A (p.Ser302Tyr) rs1417704749
NM_001379110.1(SLC9A6):c.1189del (p.Ala397fs)
NM_001379403.1(WDR26):c.1136G>A (p.Arg379Gln) rs774272467
NM_001379403.1(WDR26):c.1411G>C (p.Ala471Pro) rs2102905325
NM_001379403.1(WDR26):c.1525T>G (p.Trp509Gly) rs1553354956
NM_001379403.1(WDR26):c.1537G>A (p.Asp513Asn) rs1553354952
NM_001384125.1(BLTP1):c.14628G>T (p.Lys4876Asn) rs1433976424
NM_001384474.1(LOXHD1):c.894T>G (p.Tyr298Ter) rs886043441
NM_001384574.2(SAMD4B):c.1569G>C (p.Trp523Cys) rs2077859510
NM_001385012.1(NBEA):c.2836C>T (p.His946Tyr) rs869312667
NM_001385012.1(NBEA):c.6637C>T (p.Arg2213Ter) rs878853169
NM_001386135.1(AFF3):c.697G>A (p.Ala233Thr) rs1131692272
NM_001386888.1(AFDN):c.2557_2559delinsTGA (p.Ile853Ter) rs1057519562
NM_001388303.1(HECTD4):c.4958+1G>A
NM_001388303.1(HECTD4):c.9985C>T (p.Gln3329Ter) rs1555248311
NM_001388485.1(LMTK3):c.189dup (p.Arg64fs) rs2147562120
NM_001393769.1(MED12L):c.6097C>T (p.Gln2033Ter) rs1553815325
NM_001394062.1(MACF1):c.11650C>T (p.Gln3884Ter) rs1553300826
NM_001400265.1(MTCL3):c.2332G>C (p.Gly778Arg) rs2114834964
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001429.4(EP300):c.6691del (p.Met2231fs) rs1601641819
NM_001453.3(FOXC1):c.1157del (p.Gly386fs) rs1762550387
NM_001453.3(FOXC1):c.387C>A (p.Asn129Lys) rs751776784
NM_001614.5(ACTG1):c.1000G>C (p.Glu334Gln) rs1598546921
NM_001658.4(ARF1):c.143C>T (p.Thr48Ile) rs1571844539
NM_001663.4(ARF6):c.187G>A (p.Asp63Asn) rs1594840787
NM_001664.4(RHOA):c.181G>A (p.Ala61Thr) rs1575647051
NM_001690.4(ATP6V1A):c.1294T>A (p.Phe432Ile)
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val) rs140580674
NM_001844.5(COL2A1):c.1937dup (p.Ala647fs) rs2136558900
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser) rs2136539942
NM_001844.5(COL2A1):c.2594del (p.Pro865fs) rs2136537559
NM_001844.5(COL2A1):c.3563G>C (p.Gly1188Ala) rs1592197682
NM_001844.5(COL2A1):c.491del (p.Pro164fs) rs1592235241
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp) rs397514624
NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser) rs1877701802
NM_001853.4(COL9A3):c.1425_1442del (p.Lys477_Pro482del) rs1600810127
NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter) rs1027769042
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001991.5(EZH1):c.1217G>A (p.Arg406His) rs1597832055
NM_002007.4(FGF4):c.611C>A (p.Pro204His) rs2119827064
NM_002080.4(GOT2):c.1084C>T (p.Leu362Phe)
NM_002080.4(GOT2):c.569A>T (p.Asp190Val)
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
NM_002139.4(RBMX):c.287C>T (p.Pro96Leu)
NM_002161.6(IARS1):c.226G>A (p.Gly76Arg) rs372859203
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_002397.5(MEF2C):c.88AAG[1] (p.Lys31del)
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn) rs869312676
NM_002577.4(PAK2):c.1205C>T (p.Thr402Ile) rs2108772943
NM_002578.5(PAK3):c.988G>A (p.Asp330Asn) rs1603373843
NM_002585.4(PBX1):c.67del (p.Ser23fs) rs2101678386
NM_002641.4(PIGA):c.395C>G (p.Ser132Cys) rs1060499625
NM_002714.4(PPP1R10):c.1295C>T (p.Ala432Val)
NM_002742.3(PRKD1):c.2219G>A (p.Arg740Gln) rs752897300
NM_002807.4(PSMD1):c.418C>T (p.Arg140Ter) rs1693924262
NM_002819.5(PTBP1):c.2T>C (p.Met1Thr) rs1599210325
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr) rs2038706856
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys) rs1279770165
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_002911.4(UPF1):c.2080C>T (p.Arg694Trp)
NM_002968.3(SALL1):c.269dup (p.Pro91fs) rs2143452445
NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu) rs376879952
NM_003021.4(SGTA):c.823C>T (p.Gln275Ter) rs1599495454
NM_003038.5(SLC1A4):c.1035-381_1230-73del rs1553375174
NM_003042.4(SLC6A1):c.1352A>G (p.Asp451Gly) rs869312680
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr) rs281875196
NM_003072.5(SMARCA4):c.2476G>T (p.Ala826Ser) rs1057524313
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003105.6(SORL1):c.1247G>A (p.Arg416Gln) rs377550239
NM_003112.5(SP4):c.90dup (p.Asn31Ter)
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003124.5(SPR):c.106G>A (p.Val36Met) rs869312688
NM_003345.5(UBE2I):c.428A>G (p.Glu143Gly)
NM_003401.5(XRCC4):c.356C>T (p.Pro119Leu) rs768175717
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu) rs886043233
NM_003482.4(KMT2D):c.14110A>T (p.Ser4704Cys) rs1592110663
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.4(KMT2D):c.15596_15597delinsGC (p.Phe5199Cys)
NM_003482.4(KMT2D):c.15989C>G (p.Pro5330Arg) rs1942485576
NM_003482.4(KMT2D):c.166C>T (p.Gln56Ter) rs1592162790
NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter) rs1555191740
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003722.5(TP63):c.1685T>C (p.Leu562Pro) rs774221257
NM_003722.5(TP63):c.739C>T (p.His247Tyr) rs1553856553
NM_003812.4(ADAM23):c.2268del (p.Cys757fs) rs2105852296
NM_003870.4(IQGAP1):c.3493A>G (p.Lys1165Glu) rs886039901
NM_003884.5(KAT2B):c.1754del (p.Tyr585fs) rs1553598537
NM_003898.4(SYNJ2):c.2557T>C (p.Ser853Pro) rs869312665
NM_003924.4(PHOX2B):c.440A>G (p.Gln147Arg) rs2153112821
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup) rs771383153
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup) rs761018157
NM_003985.6(TNK1):c.393C>G (p.His131Gln) rs767381816
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004104.5(FASN):c.1249_1250dup (p.Ala418fs)
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs) rs1131692227
NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe) rs1597789186
NM_004274.5(AKAP6):c.2305C>T (p.Gln769Ter) rs1213602989
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val) rs869312714
NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr) rs1567263529
NM_004380.3(CREBBP):c.6043dup (p.Ser2015fs) rs2151306514
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter) rs199821421
NM_004380.3(CREBBP):c.85+1G>A rs1597099388
NM_004387.4(NKX2-5):c.439del (p.Gln147fs) rs1761360431
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter) rs2080439314
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004525.3(LRP2):c.4181G>A (p.Cys1394Tyr) rs767869932
NM_004530.6(MMP2):c.377A>G (p.Tyr126Cys) rs1596807866
NM_004540.5(NCAM2):c.365C>T (p.Ser122Phe)
NM_004586.3(RPS6KA3):c.1460A>T (p.Lys487Met) rs2148650076
NM_004595.5(SMS):c.329G>A (p.Arg110Gln) rs2147513193
NM_004606.5(TAF1):c.2498_2500del (p.Lys833_Ala834delinsThr) rs2148336854
NM_004614.5(TK2):c.129_132del (p.Lys43fs) rs281865500
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_004646.4(NPHS1):c.2758T>G (p.Cys920Gly)
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004850.5(ROCK2):c.2140C>T (p.Arg714Ter) rs869312716
NM_004958.4(MTOR):c.4606A>G (p.Ile1536Val) rs886041096
NM_004958.4(MTOR):c.4785G>A (p.Met1595Ile) rs869312671
NM_004958.4(MTOR):c.505-2A>G rs869312706
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004958.4(MTOR):c.6981G>A (p.Met2327Ile) rs878855328
NM_004972.4(JAK2):c.1694G>C (p.Arg565Thr) rs2130546358
NM_004972.4(JAK2):c.1822C>G (p.His608Asp)
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005022.4(PFN1):c.280G>T (p.Gly94Cys)
NM_005026.5(PIK3CD):c.2997G>A (p.Lys999=) rs1463951620
NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs) rs2150860676
NM_005085.4(NUP214):c.1412C>T (p.Ser471Phe) rs776701369
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys) rs1569481124
NM_005121.3(MED13):c.4198C>T (p.Arg1400Ter) rs773685207
NM_005188.4(CBL):c.1096-4_1096-1del rs397517077
NM_005245.4(FAT1):c.10513A>T (p.Arg3505Trp)
NM_005245.4(FAT1):c.11518G>A (p.Val3840Met)
NM_005246.4(FER):c.2344C>G (p.Pro782Ala) rs1582454977
NM_005249.5(FOXG1):c.460del (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys) rs879255530
NM_005249.5(FOXG1):c.821G>A (p.Arg274Gln) rs869312700
NM_005257.6(GATA6):c.1367G>A (p.Arg456His) rs387906819
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) rs904551659
NM_005269.3(GLI1):c.985A>T (p.Lys329Ter) rs1871565914
NM_005333.5(HCCS):c.736C>T (p.Arg246Cys) rs2147254071
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) rs869312686
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile) rs2148553327
NM_005378.6(MYCN):c.367del (p.Arg123fs)
NM_005402.4(RALA):c.526C>T (p.Arg176Ter) rs1204820978
NM_005402.4(RALA):c.73G>A (p.Val25Met) rs1554297905
NM_005406.3(ROCK1):c.877_878insT (p.His293fs)
NM_005428.4(VAV1):c.909del (p.Asp303fs)
NM_005444.3(CNOT9):c.874C>T (p.Arg292Trp)
NM_005445.4(SMC3):c.283G>A (p.Glu95Lys) rs869312672
NM_005450.6(NOG):c.64dup (p.Ala22fs) rs1597919829
NM_005629.4(SLC6A8):c.1548C>A (p.Cys516Ter)
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005816.5(CD96):c.934del (p.Asp312fs) rs1937457440
NM_005859.5(PURA):c.503T>C (p.Leu168Pro) rs1581036449
NM_005859.5(PURA):c.677_678del (p.Val226fs) rs1064796830
NM_005859.5(PURA):c.710C>T (p.Ser237Phe) rs886039899
NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) rs121913562
NM_005938.4(FOXO4):c.449G>A (p.Trp150Ter)
NM_005984.5(SLC25A1):c.821+1G>A rs781974501
NM_005993.5(TBCD):c.2077C>A (p.Pro693Thr)
NM_005993.5(TBCD):c.2472-2A>G
NM_005993.5(TBCD):c.3212T>G (p.Leu1071Trp) rs2062710977
NM_006015.6(ARID1A):c.750_771dup (p.Ser258fs) rs1557570794
NM_006035.4(CDC42BPB):c.3615G>A (p.Trp1205Ter) rs1346688931
NM_006099.3(PIAS3):c.499C>T (p.Gln167Ter) rs1570778920
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006218.4(PIK3CA):c.320A>G (p.Asn107Ser) rs2108386309
NM_006225.4(PLCD1):c.631C>T (p.Arg211Trp) rs752156828
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006289.4(TLN1):c.2176dup (p.Thr726fs)
NM_006306.4(SMC1A):c.3290T>A (p.Phe1097Tyr) rs1131692271
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys) rs782175064
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006421.5(ARFGEF1):c.4257T>G (p.Tyr1419Ter)
NM_006494.4(ERF):c.517_521dup (p.Ala175fs) rs2146950390
NM_006516.4(SLC2A1):c.517-1G>C rs869312673
NM_006516.4(SLC2A1):c.574_575del (p.Ile192fs) rs878853161
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006618.5(KDM5B):c.2188_2189insC (p.Tyr730fs) rs1558488609
NM_006618.5(KDM5B):c.3727C>T (p.Arg1243Ter) rs869312703
NM_006659.4(TUBGCP2):c.150+5G>A
NM_006659.4(TUBGCP2):c.1552C>T (p.Arg518Cys)
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006757.4(TNNT3):c.187C>A (p.Arg63Ser) rs199474721
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.993+2T>C
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.3788_3794del (p.Ile1263fs) rs869312677
NM_006852.6(TLK2):c.968+1G>A rs1598620094
NM_006908.5(RAC1):c.506T>G (p.Phe169Cys) rs1176320808
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006914.4(RORB):c.8-1G>A rs1587393982
NM_006922.4(SCN3A):c.655A>G (p.Arg219Gly)
NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg) rs1341736288
NM_006940.6(SOX5):c.622C>T (p.Gln208Ter) rs1555307370
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys) rs2145768544
NM_007118.4(TRIO):c.2957G>A (p.Arg986Gln)
NM_007118.4(TRIO):c.6092del (p.Phe2030_Leu2031insTer) rs752676391
NM_007118.4(TRIO):c.634G>T (p.Glu212Ter) rs1057516029
NM_007255.3(B4GALT7):c.640-12T>A
NM_007279.3(U2AF2):c.1256G>A (p.Arg419Gln) rs1984754253
NM_007279.3(U2AF2):c.791G>A (p.Gly264Glu) rs1984686433
NM_007289.4(MME):c.1272del (p.Arg425fs) rs1060499935
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter) rs80356903
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5277+1del rs273901754
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007327.4(GRIN1):c.1922T>C (p.Met641Thr) rs1588732344
NM_007332.3(TRPA1):c.2194C>G (p.Pro732Ala) rs1585851954
NM_007363.5(NONO):c.1131G>A (p.Ala377=) rs869025343
NM_012156.2(EPB41L1):c.1807C>T (p.Arg603Cys)
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del) rs2148715376
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met) rs2148725999
NM_012216.4(MID2):c.448G>T (p.Ala150Ser) rs375785745
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_012309.5(SHANK2):c.1896dup (p.Asp633fs) rs1555013332
NM_012310.5(KIF4A):c.1015A>G (p.Lys339Glu) rs2147691521
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012433.4(SF3B1):c.415+2T>G rs2085221774
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
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.4055_4058del (p.His1352fs) rs2151751963
NM_013275.6(ANKRD11):c.448A>G (p.Thr150Ala)
NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter) rs869312713
NM_013275.6(ANKRD11):c.6792del (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.7062dup (p.Ser2355fs) rs886041942
NM_013275.6(ANKRD11):c.7404_7427del (p.Glu2468_Tyr2476delinsAsp) rs2151729090
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_013450.4(BAZ2B):c.242C>G (p.Ser81Ter) rs767318278
NM_014208.3(DSPP):c.139G>A (p.Glu47Lys)
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp) rs1057519946
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014423.4(AFF4):c.879del (p.His294fs)
NM_014425.5(INVS):c.2949dup (p.Lys984fs) rs1588153872
NM_014458.4(KLHL20):c.1100T>C (p.Leu367Ser)
NM_014491.4(FOXP2):c.1719G>A (p.Trp573Ter)
NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser)
NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu)
NM_014619.5(GRIK4):c.2713_2727delinsGCT (p.Leu905_Glu908del) rs869312699
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys) rs869312709
NM_014639.4(SKIC3):c.2494G>T (p.Gly832Cys) rs1347862457
NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer) rs752052886
NM_014681.6(DHX34):c.3160-23_3169del
NM_014681.6(DHX34):c.3260A>G (p.Glu1087Gly)
NM_014687.4(RUBCN):c.1464C>A (p.Asp488Glu)
NM_014762.4(DHCR24):c.1241_1242insAGTCC (p.Phe415fs) rs1570178668
NM_014762.4(DHCR24):c.1480C>T (p.Arg494Ter) rs563822834
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2672_2678del (p.Ala891fs) rs878855329
NM_014795.4(ZEB2):c.3164A>G (p.Tyr1055Cys) rs1135402759
NM_014801.4(PCNX2):c.4125_4126del (p.Asp1377fs) rs797046137
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014974.3(DIP2C):c.4045-2A>G rs2132167956
NM_014975.3(MAST1):c.210dup (p.Asn71fs) rs1380941808
NM_014975.3(MAST1):c.278C>T (p.Ser93Leu) rs878853165
NM_014991.6(WDFY3):c.8467C>T (p.Arg2823Trp) rs1131692269
NM_014991.6(WDFY3):c.8864_8867dup (p.Phe2957fs) rs878853167
NM_015021.3(ZNF292):c.7870C>G (p.His2624Asp) rs551397183
NM_015045.5(WAPL):c.2020C>T (p.Arg674Cys)
NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)
NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)
NM_015100.4(POGZ):c.1748A>G (p.His583Arg) rs1131692270
NM_015100.4(POGZ):c.2700_2710del (p.Leu901fs) rs2102150015
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015176.4(FBXO28):c.1016_1017delinsT (p.Gly339fs)
NM_015215.4(CAMTA1):c.3356C>T (p.Ala1119Val) rs1577305812
NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val) rs1135402740
NM_015330.6(SPECC1L):c.2473del (p.Met825fs) rs2146521275
NM_015335.5(MED13L):c.124dup (p.Asp42fs) rs869312875
NM_015335.5(MED13L):c.2107C>T (p.Gln703Ter) rs1555247672
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015355.4(SUZ12):c.348_351del (p.Tyr117fs) rs1598143986
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015570.4(AUTS2):c.1486dup (p.Gln496fs) rs869312878
NM_015695.3(BRPF3):c.1978C>T (p.Leu660Phe)
NM_015874.6(RBPJ):c.155G>C (p.Arg52Thr)
NM_015910.7(WDPCP):c.1780G>A (p.Ala594Thr) rs2103954230
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
NM_016077.5(PTRH2):c.535dup (p.Tyr179fs)
NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter) rs2123136215
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016284.5(CNOT1):c.6344A>G (p.Tyr2115Cys) rs1597399182
NM_016428.3(ABI3):c.290T>A (p.Val97Glu) rs202087269
NM_016592.5(GNAS):c.7C>T (p.Arg3Trp) rs202131370
NM_016604.4(KDM3B):c.2753G>A (p.Arg918His)
NM_016642.4(SPTBN5):c.1288C>T (p.Arg430Cys)
NM_016642.4(SPTBN5):c.8419G>A (p.Glu2807Lys)
NM_016734.3(PAX5):c.1013-1G>A rs1554646594
NM_017552.4(ATAD2B):c.1404dup (p.Met469fs)
NM_017565.4(FAM20A):c.111_145del (p.Glu39fs) rs2143965549
NM_017629.4(AGO4):c.241C>T (p.Gln81Ter) rs1387295670
NM_017635.5(KMT5B):c.2497G>T (p.Glu833Ter) rs878853164
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) rs1554336974
NM_017775.4(TTC19):c.424-3C>G rs1283394462
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn) rs1563595388
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter) rs797045465
NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer) rs1586390136
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr) rs1804159058
NM_017780.4(CHD7):c.4185+1G>A rs1586418093
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017780.4(CHD7):c.7344_7345del (p.Glu2450fs) rs1586453267
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter) rs1563669432
NM_017780.4(CHD7):c.8049del (p.Asp2684fs) rs1586463029
NM_017799.4(TMEM260):c.1869+1G>T rs141599092
NM_017799.4(TMEM260):c.2082_2086AAGAA[1] (p.Lys696fs) rs568247949
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018359.5(UFSP2):c.1012G>A (p.Gly338Arg)
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter) rs397515415
NM_018486.3(HDAC8):c.737+1G>A rs869312660
NM_018489.3(ASH1L):c.1907C>G (p.Ser636Ter) rs1198775988
NM_018489.3(ASH1L):c.7421+6T>C
NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter) rs1602379828
NM_019045.5(WDR44):c.1085T>C (p.Leu362Pro) rs1602920820
NM_019066.5(MAGEL2):c.1262C>G (p.Pro421Arg) rs2140716697
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.5(MAGEL2):c.2958del (p.Ser987fs) rs1060499934
NM_019066.5(MAGEL2):c.3131C>A (p.Ser1044Ter) rs1267004913
NM_019066.5(MAGEL2):c.3208G>T (p.Glu1070Ter) rs869312694
NM_019074.4(DLL4):c.1857_1864del (p.Pro621fs) rs1892853569
NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs) rs547447016
NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg) rs1554817910
NM_020338.4(ZMIZ1):c.2758dup (p.Gln920fs) rs777843533
NM_020436.5(SALL4):c.1849C>T (p.Arg617Ter) rs74315427
NM_020549.5(CHAT):c.506T>C (p.Phe169Ser) rs776499844
NM_020706.2(SCAF4):c.159G>T (p.Lys53Asn) rs763344051
NM_020719.3(PRR12):c.922_923del (p.His308fs)
NM_020738.4(KIDINS220):c.5079_5080del (p.Asn1693fs) rs1131692229
NM_020821.3(VPS13C):c.1988del (p.Thr663fs) rs1019238429
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020988.3(GNAO1):c.604G>A (p.Val202Ile) rs1297388989
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly) rs2037954227
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_021035.3(ZNFX1):c.4880G>A (p.Arg1627His)
NM_021035.3(ZNFX1):c.872C>T (p.Thr291Met)
NM_021224.6(ZNF462):c.5680T>G (p.Cys1894Gly) rs869312691
NM_022089.4(ATP13A2):c.1298_1299del (p.Ser433fs)
NM_022101.4(STEEP1):c.229_230del (p.Met77fs)
NM_022113.6(KIF13A):c.3364A>G (p.Lys1122Glu)
NM_022167.4(XYLT2):c.1584del (p.Gly529fs)
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022168.4(IFIH1):c.2933_2935dup (p.Asp978_Leu979insTyr)
NM_022552.5(DNMT3A):c.895A>C (p.Lys299Gln) rs766858016
NM_022786.3(ARV1):c.101G>A (p.Cys34Tyr) rs778567340
NM_022786.3(ARV1):c.518dup (p.Pro174fs) rs544784472
NM_022893.4(BCL11A):c.1847del (p.Gly616fs) rs1382819519
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val) rs1553603462
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024408.4(NOTCH2):c.6909del (p.Ile2304fs) rs771237928
NM_024408.4(NOTCH2):c.853C>T (p.Arg285Cys) rs142614610
NM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs) rs747093432
NM_024657.5(MORC4):c.676A>G (p.Asn226Asp)
NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys) rs878854402
NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys)
NM_024702.3(ZNF750):c.39_49del (p.His13fs)
NM_024757.5(EHMT1):c.1502-2A>G rs2136355927
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys) rs886041093
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter) rs137852714
NM_024870.4(PREX2):c.1579C>A (p.Arg527Ser) rs199776134
NM_025137.4(SPG11):c.276_285del (p.Arg93fs) rs747220413
NM_030624.3(KLHL15):c.391G>A (p.Glu131Lys) rs1602008532
NM_030632.3(ASXL3):c.1682C>A (p.Ser561Ter) rs869312696
NM_030632.3(ASXL3):c.6640T>C (p.Ser2214Pro) rs878853168
NM_030912.3(TRIM8):c.553C>T (p.Arg185Ter)
NM_031263.4(HNRNPK):c.1123G>T (p.Gly375Trp) rs1588412390
NM_031263.4(HNRNPK):c.364C>T (p.Gln122Ter) rs2133042086
NM_031263.4(HNRNPK):c.646-1G>A rs1564062144
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.7(HUWE1):c.8974C>G (p.Arg2992Gly) rs1401359685
NM_031443.4(CCM2):c.93A>C (p.Lys31Asn)
NM_031844.3(HNRNPU):c.651_660dup (p.Gly221fs) rs779453109
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter) rs869312701
NM_031844.3(HNRNPU):c.914G>A (p.Arg305His) rs756460435
NM_032217.5(ANKRD17):c.2623G>T (p.Glu875Ter) rs1578168407
NM_032217.5(ANKRD17):c.3271del (p.Cys1091fs) rs2148721126
NM_032271.3(TRAF7):c.1510G>C (p.Asp504His) rs1596680065
NM_032538.3(TTBK1):c.367C>T (p.Arg123Ter)
NM_032634.4(PIGO):c.1352T>G (p.Met451Arg) rs1057518632
NM_032634.4(PIGO):c.1392delinsGA (p.Ile464fs) rs1587167234
NM_032776.3(JMJD1C):c.6410A>T (p.Glu2137Val) rs369068631
NM_033225.6(CSMD1):c.1642A>G (p.Thr548Ala) rs768680532
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu) rs2034823903
NM_052867.4(NALCN):c.1675G>C (p.Val559Leu) rs758646676
NM_052876.4(NACC1):c.1406G>A (p.Arg469His) rs2145626422
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs) rs1380822792
NM_057175.5(NAA15):c.1418_1421dup (p.Ala475fs)
NM_057175.5(NAA15):c.2322C>G (p.Tyr774Ter) rs886041097
NM_078474.3(TM2D3):c.206C>T (p.Pro69Leu) rs140152371
NM_078480.3(PUF60):c.1309C>T (p.Gln437Ter) rs1554642022
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_080473.5(GATA5):c.755C>A (p.Thr252Lys) rs143901995
NM_080680.3(COL11A2):c.1129_1130dup (p.Pro378fs)
NM_130466.4(UBE3B):c.2172dup (p.Ile725fs) rs765785230
NM_130466.4(UBE3B):c.351T>G (p.Tyr117Ter) rs1592882265
NM_133433.4(NIPBL):c.6705_6707del (p.Lys2235del) rs797045778
NM_133448.3(TMEM132D):c.3247G>A (p.Gly1083Arg) rs1593250509
NM_134261.3(RORA):c.821-1G>C rs2141286878
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys) rs1085307451
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs) rs869312662
NM_139058.3(ARX):c.1489G>C (p.Ala497Pro) rs1556046847
NM_139321.3(ATRN):c.396C>G (p.Cys132Trp)
NM_144666.3(DNHD1):c.9623G>T (p.Arg3208Met) rs1589895209
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145331.3(MAP3K7):c.143G>A (p.Gly48Glu) rs1776911945
NM_145331.3(MAP3K7):c.248G>A (p.Arg83His) rs929527043
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_152221.3(CSNK1E):c.287G>T (p.Cys96Phe) rs2092680707
NM_152221.3(CSNK1E):c.532C>T (p.Arg178Cys)
NM_152263.4(TPM3):c.329C>T (p.Ala110Val) rs1558052023
NM_152393.4(KLHL40):c.1608-1G>A rs2125846068
NM_152641.4(ARID2):c.109dup (p.Ile37fs) rs2137959601
NM_152641.4(ARID2):c.1708del (p.Cys570fs) rs879255529
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs) rs1057519561
NM_153827.5(MINK1):c.3206T>G (p.Leu1069Arg) rs1371779157
NM_170606.3(KMT2C):c.7613dup (p.Gln2539fs) rs1554496813
NM_172107.4(KCNQ2):c.1148+2T>A
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro) rs886041262
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172230.3(SYVN1):c.38C>T (p.Ala13Val)
NM_172230.3(SYVN1):c.68A>G (p.Tyr23Cys)
NM_173495.3(PTCHD1):c.1434C>G (p.Tyr478Ter) rs751692491
NM_173814.6(PRTG):c.1622C>G (p.Pro541Arg) rs2141798346
NM_175854.8(PAN3):c.85del (p.Ala29fs) rs2137882227
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr) rs1229650809
NM_176787.5(PIGN):c.1557G>A (p.Trp519Ter) rs560010455
NM_176869.3(PPA2):c.938C>A (p.Ser313Ter) rs151331559
NM_178012.5(TUBB2B):c.1162A>C (p.Met388Leu) rs2113818913
NM_178012.5(TUBB2B):c.43C>A (p.Gln15Lys) rs1085307566
NM_178014.4(TUBB):c.299A>G (p.Asn100Ser) rs2127749060
NM_178014.4(TUBB):c.662C>T (p.Thr221Ile) rs878853162
NM_181349.3(SMURF1):c.721G>A (p.Glu241Lys) rs1795770782
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_182641.4(BPTF):c.1628G>A (p.Gly543Asp) rs1420785504
NM_182641.4(BPTF):c.255del (p.Ser86fs) rs1598050118
NM_182641.4(BPTF):c.2832_2843del (p.941_944NMDE[1]) rs749412697
NM_183065.4(TMEM107):c.*745C>G rs746503581
NM_183381.3(RNF13):c.875C>G (p.Ser292Ter) rs1722332295
NM_194449.4(PHLPP1):c.2302del (p.Ser768fs)
NM_194454.3(KRIT1):c.1574del (p.Pro525fs) rs1584807148
NM_194463.2(RNF128):c.917C>G (p.Pro306Arg) rs2147704423
NM_197968.4(ZMYM2):c.1193A>G (p.Gln398Arg) rs1594305253
NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter) rs1952668177
NM_198282.4(STING1):c.842G>A (p.Arg281Gln) rs1561482476
NM_199141.2(CARM1):c.362A>T (p.Tyr121Phe) rs769691938
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter) rs2132991341
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter) rs1554686620
NM_205768.3(ZBTB18):c.1493A>C (p.His498Pro) rs1553270640
NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg) rs869312689
NM_207346.3(TSEN54):c.503T>G (p.Val168Gly) rs2147009566
m.3697G>A rs199476122

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