ClinVar Miner

List of variants reported as uncertain significance by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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ClinVar version:
Total variants: 2011
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671 0.00362
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_005993.5(TBCD):c.2852+3A>G rs187081192 0.00308
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_004279.3(PMPCB):c.1336A>G (p.Asn446Asp) rs144744182 0.00172
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 0.00168
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_001010874.5(TECRL):c.893T>C (p.Val298Ala) rs146610448 0.00096
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_003764.4(STX11):c.616G>A (p.Glu206Lys) rs145347140 0.00086
NM_005562.3(LAMC2):c.2681G>A (p.Arg894His) rs146907099 0.00081
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_152743.4(BRAT1):c.826G>A (p.Asp276Asn) rs146546197 0.00070
NM_001372.4(DNAH9):c.11039C>T (p.Ala3680Val) rs72815427 0.00068
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile) rs202244838 0.00067
NM_020778.5(ALPK3):c.1015C>T (p.Arg339Cys) rs141449225 0.00067
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys) rs138840581 0.00062
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg) rs139019255 0.00058
NM_024417.5(FDXR):c.1459C>T (p.Arg487Cys) rs143458938 0.00053
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln) rs190396031 0.00053
NM_139285.4(GAS2L2):c.938G>A (p.Arg313His) rs201782410 0.00053
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=) rs368625295 0.00048
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp) rs141441030 0.00045
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr) rs146968463 0.00045
NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln) rs139576982 0.00045
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_004092.4(ECHS1):c.489G>A (p.Pro163=) rs140410716 0.00042
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) rs541276426 0.00041
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_020433.5(JPH2):c.692G>A (p.Arg231Gln) rs761591158 0.00039
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln) rs200559738 0.00037
NM_001257096.2(PAX1):c.1175C>G (p.Pro392Arg) rs201542749 0.00037
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp) rs529894952 0.00036
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_152743.4(BRAT1):c.955G>A (p.Val319Ile) rs140903769 0.00034
NM_015909.4(NBAS):c.3502G>A (p.Glu1168Lys) rs140855946 0.00033
NM_001195263.2(PDZD7):c.1267G>A (p.Ala423Thr) rs201268590 0.00031
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly) rs142067039 0.00031
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn) rs34181302 0.00029
NM_006420.3(ARFGEF2):c.3046G>C (p.Gly1016Arg) rs149644732 0.00029
NM_170754.4(TNS2):c.1424G>A (p.Arg475Gln) rs150698661 0.00028
NM_004279.3(PMPCB):c.28T>G (p.Leu10Val) rs77305684 0.00027
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859 0.00027
NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser) rs185746835 0.00026
NM_003184.4(TAF2):c.2458G>A (p.Asp820Asn) rs117420905 0.00026
NM_004369.4(COL6A3):c.8966-3C>A rs190667494 0.00026
NM_005186.4(CAPN1):c.221G>A (p.Gly74Asp) rs201318945 0.00026
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile) rs200393300 0.00026
NM_032620.4(GTPBP3):c.1424G>C (p.Gly475Ala) rs200086297 0.00026
NM_058004.4(PI4KA):c.2797A>G (p.Met933Val) rs142927362 0.00026
NM_001286577.2(C2CD3):c.3742C>T (p.Arg1248Cys) rs139665472 0.00025
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly) rs200635860 0.00025
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) rs199473648 0.00025
NM_181426.2(CCDC39):c.83A>C (p.Glu28Ala) rs201794121 0.00025
NM_001009944.3(PKD1):c.674C>T (p.Ser225Leu) rs748021456 0.00024
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro) rs749447795 0.00024
NM_015836.4(WARS2):c.348+3C>T rs200060157 0.00024
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_015991.4(C1QA):c.11C>G (p.Pro4Arg) rs149230484 0.00023
NM_003803.4(MYOM1):c.2848A>G (p.Met950Val) rs184774935 0.00022
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter) rs201812542 0.00022
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn) rs141207203 0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly) rs190693455 0.00021
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) rs188955444 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser) rs140776586 0.00020
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu) rs376808920 0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923 0.00020
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter) rs146471913 0.00019
NM_014000.3(VCL):c.2969C>T (p.Ala990Val) rs150595117 0.00019
NM_018685.5(ANLN):c.752G>A (p.Ser251Asn) rs372980930 0.00019
NM_004618.5(TOP3A):c.2779G>T (p.Glu927Ter) rs578143841 0.00018
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly) rs138391404 0.00018
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00018
NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn) rs140692271 0.00018
NM_001127178.3(PIGG):c.1614+247G>A rs555564479 0.00017
NM_020365.5(EIF2B3):c.71C>T (p.Pro24Leu) rs151320540 0.00017
NM_152515.5(CKAP2L):c.1040G>A (p.Arg347Lys) rs551009951 0.00017
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00016
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_001330588.2(TPP2):c.3074A>G (p.Glu1025Gly) rs199569052 0.00016
NM_001458.5(FLNC):c.1108A>G (p.Met370Val) rs370406338 0.00016
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg) rs763469367 0.00016
NM_152393.4(KLHL40):c.1746C>A (p.Asp582Glu) rs202096553 0.00016
NM_001105206.3(LAMA4):c.4792G>T (p.Ala1598Ser) rs202176359 0.00015
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg) rs751650734 0.00015
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn) rs753699011 0.00014
NM_001332.4(CTNND2):c.662C>T (p.Pro221Leu) rs1016219246 0.00014
NM_020778.5(ALPK3):c.301A>G (p.Thr101Ala) rs199645892 0.00014
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly) rs182080501 0.00014
NM_033124.5(CCDC65):c.683A>T (p.Asp228Val) rs142550817 0.00014
NM_173630.4(RTTN):c.1738C>T (p.Arg580Cys) rs368918234 0.00014
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln) rs369935650 0.00013
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_032620.4(GTPBP3):c.1252G>A (p.Val418Met) rs148291786 0.00013
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00013
NM_181840.1(KCNK18):c.361dup (p.Tyr121fs) rs541915908 0.00013
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln) rs200590188 0.00011
NM_000199.5(SGSH):c.1049C>T (p.Pro350Leu) rs144035603 0.00011
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr) rs199963560 0.00011
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln) rs199738915 0.00011
NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser) rs138332995 0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675 0.00011
NM_002887.4(RARS1):c.668G>A (p.Arg223His) rs146632182 0.00011
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp) rs556465096 0.00011
NM_004625.4(WNT7A):c.470G>A (p.Arg157His) rs199592697 0.00011
NM_005051.3(QARS1):c.337G>A (p.Val113Met) rs767616063 0.00011
NM_005559.4(LAMA1):c.485G>A (p.Arg162His) rs759415734 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp) rs144969324 0.00011
NM_020376.4(PNPLA2):c.1415C>G (p.Ala472Gly) rs765640246 0.00011
NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser) rs759357299 0.00011
NM_001009944.3(PKD1):c.1867A>C (p.Ser623Arg) rs750430411 0.00010
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_004820.5(CYP7B1):c.101G>A (p.Cys34Tyr) rs1031580133 0.00010
NM_020971.3(SPTBN4):c.6502C>G (p.Leu2168Val) rs760932101 0.00010
NM_145046.5(CALR3):c.1066C>T (p.Arg356Cys) rs150430942 0.00010
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00009
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn) rs199924410 0.00009
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00009
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) rs549476254 0.00009
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684 0.00009
NM_001009999.3(KDM1A):c.160G>A (p.Ala54Thr) rs1358497272 0.00009
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys) rs777768807 0.00009
NM_001367823.1(ARHGEF18):c.3580C>T (p.Arg1194Cys) rs749113504 0.00009
NM_001377.3(DYNC2H1):c.8833-3T>C rs551227065 0.00009
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val) rs202184162 0.00009
NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met) rs772580545 0.00009
NM_006420.3(ARFGEF2):c.695G>A (p.Arg232His) rs140989375 0.00009
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser) rs200294385 0.00009
NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His) rs374739970 0.00009
NM_032620.4(GTPBP3):c.169G>C (p.Ala57Pro) rs762821280 0.00009
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile) rs751776839 0.00008
NM_001105206.3(LAMA4):c.1522G>A (p.Ala508Thr) rs139730568 0.00008
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val) rs763045560 0.00008
NM_006904.7(PRKDC):c.10172C>T (p.Ala3391Val) rs562934408 0.00008
NM_014239.4(EIF2B2):c.119G>C (p.Gly40Ala) rs139325888 0.00008
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_025150.5(TARS2):c.49G>A (p.Ala17Thr) rs367864616 0.00008
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00008
NM_181882.3(PRX):c.553C>T (p.Arg185Cys) rs376863946 0.00008
NM_000133.4(F9):c.1346G>A (p.Arg449Gln) rs143018900 0.00007
NM_000501.4(ELN):c.1537G>A (p.Val513Ile) rs372788076 0.00007
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) rs373797219 0.00007
NM_001193375.3(NDUFA11):c.494C>T (p.Ala165Val) rs765004425 0.00007
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197 0.00007
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu) rs376632767 0.00007
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His) rs201745016 0.00007
NM_004618.5(TOP3A):c.1643G>A (p.Arg548Gln) rs151096656 0.00007
NM_005061.3(RPL3L):c.722C>T (p.Pro241Leu) rs748822456 0.00007
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His) rs760922582 0.00007
NM_005262.3(GFER):c.586C>T (p.Arg196Cys) rs370475970 0.00007
NM_006393.3(NEBL):c.535C>T (p.Arg179Ter) rs370153729 0.00007
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val) rs375708075 0.00007
NM_030653.4(DDX11):c.2692-1G>A rs376819535 0.00007
NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr) rs758715543 0.00007
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000061.3(BTK):c.720A>C (p.Glu240Asp) rs141590686 0.00006
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_001009944.3(PKD1):c.10141C>T (p.Leu3381Phe) rs142799331 0.00006
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu) rs530832015 0.00006
NM_001277115.2(DNAH11):c.6514G>C (p.Val2172Leu) rs375008007 0.00006
NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys) rs199506852 0.00006
NM_002471.4(MYH6):c.1328G>A (p.Arg443His) rs202096001 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile) rs367986765 0.00006
NM_014946.4(SPAST):c.250C>T (p.Arg84Cys) rs776114823 0.00006
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp) rs187225056 0.00006
NM_018292.5(QRSL1):c.16C>T (p.Leu6Phe) rs373031772 0.00006
NM_020778.5(ALPK3):c.256C>T (p.Arg86Trp) rs201202701 0.00006
NM_024334.3(TMEM43):c.214G>A (p.Val72Met) rs368603914 0.00006
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile) rs782716325 0.00006
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn) rs367799225 0.00006
NM_152743.4(BRAT1):c.283-2A>T rs147005619 0.00006
NM_173630.4(RTTN):c.1777G>A (p.Glu593Lys) rs371732895 0.00006
NM_198525.3(KIF7):c.2674C>T (p.Arg892Cys) rs146368430 0.00006
NM_201596.3(CACNB2):c.1681G>A (p.Glu561Lys) rs199714857 0.00006
NM_000132.4(F8):c.2840C>G (p.Pro947Arg) rs782318401 0.00005
NM_001349.4(DARS1):c.242G>A (p.Arg81His) rs532864330 0.00005
NM_001352754.2(ARMC9):c.1907G>A (p.Arg636Gln) rs570002180 0.00005
NM_001368067.1(LDB3):c.370C>A (p.Pro124Thr) rs755513516 0.00005
NM_002161.6(IARS1):c.1531C>T (p.Arg511Cys) rs371250371 0.00005
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala) rs397516859 0.00005
NM_005589.4(ALDH6A1):c.1373G>A (p.Arg458Gln) rs369223978 0.00005
NM_005993.5(TBCD):c.2293C>T (p.Arg765Trp) rs547091970 0.00005
NM_006767.4(LZTR1):c.2260A>C (p.Asn754His) rs745755957 0.00005
NM_006915.3(RP2):c.8G>C (p.Cys3Ser) rs782344765 0.00005
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00005
NM_016341.4(PLCE1):c.6800G>A (p.Arg2267Gln) rs886039892 0.00005
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971 0.00005
NM_024817.3(THSD4):c.2443C>T (p.Arg815Trp) rs367982245 0.00005
NM_176869.3(PPA2):c.476C>T (p.Thr159Met) rs752062224 0.00005
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu) rs747965749 0.00005
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser) rs782127226 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln) rs150053420 0.00004
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432 0.00004
NM_001009944.3(PKD1):c.2243C>T (p.Ser748Leu) rs761540024 0.00004
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met) rs780043149 0.00004
NM_001122764.3(PPOX):c.1220C>T (p.Pro407Leu) rs772971420 0.00004
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) rs755371528 0.00004
NM_001204.7(BMPR2):c.908G>A (p.Arg303His) rs200948870 0.00004
NM_001281740.3(FHOD3):c.1913G>A (p.Arg638Gln) rs780516974 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_001365999.1(SZT2):c.670C>T (p.Arg224Trp) rs930525688 0.00004
NM_001365999.1(SZT2):c.9866G>T (p.Gly3289Val) rs371736872 0.00004
NM_001372.4(DNAH9):c.7267G>A (p.Asp2423Asn) rs757516746 0.00004
NM_001378778.1(MPDZ):c.3263A>G (p.Tyr1088Cys) rs372125677 0.00004
NM_001519.4(BRF1):c.1693G>T (p.Ala565Ser) rs188142316 0.00004
NM_002291.3(LAMB1):c.4237G>A (p.Gly1413Arg) rs369198991 0.00004
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His) rs533942127 0.00004
NM_002887.4(RARS1):c.272C>T (p.Ala91Val) rs150568331 0.00004
NM_003242.6(TGFBR2):c.95-3C>A rs375330013 0.00004
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875 0.00004
NM_004100.5(EYA4):c.1223G>A (p.Arg408His) rs760787542 0.00004
NM_005609.4(PYGM):c.752A>G (p.Asn251Ser) rs143071876 0.00004
NM_005993.5(TBCD):c.3562C>T (p.Gln1188Ter) rs780053410 0.00004
NM_015221.4(DNMBP):c.1232G>A (p.Gly411Asp) rs757446966 0.00004
NM_015978.3(TNNI3K):c.681T>C (p.Asp227=) rs757108060 0.00004
NM_016013.4(NDUFAF1):c.199G>A (p.Val67Ile) rs201452351 0.00004
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp) rs769570290 0.00004
NM_016580.4(PCDH12):c.1060G>A (p.Val354Ile) rs763363704 0.00004
NM_018105.3(THAP1):c.574G>A (p.Asp192Asn) rs377725442 0.00004
NM_018136.5(ASPM):c.2824C>T (p.Arg942Cys) rs546095187 0.00004
NM_020436.5(SALL4):c.1037G>A (p.Ser346Asn) rs757430438 0.00004
NM_020461.4(TUBGCP6):c.1983+4C>T rs749151104 0.00004
NM_020461.4(TUBGCP6):c.2657G>A (p.Gly886Glu) rs769027529 0.00004
NM_020461.4(TUBGCP6):c.3089C>T (p.Ser1030Leu) rs751897821 0.00004
NM_020461.4(TUBGCP6):c.4626+4G>A rs771572928 0.00004
NM_020778.5(ALPK3):c.4499+2dup rs753084997 0.00004
NM_022356.4(P3H1):c.1831G>T (p.Asp611Tyr) rs200935208 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu) rs199929086 0.00004
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe) rs374298481 0.00004
NM_152743.4(BRAT1):c.1198C>G (p.Leu400Val) rs778690788 0.00004
NM_206965.2(FTCD):c.439G>A (p.Glu147Lys) rs754659947 0.00004
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His) rs780422688 0.00003
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) rs373394254 0.00003
NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp) rs773426104 0.00003
NM_001009944.3(PKD1):c.9814C>T (p.Arg3272Cys) rs143453080 0.00003
NM_001089.3(ABCA3):c.3534G>A (p.Met1178Ile) rs778869149 0.00003
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys) rs141563497 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001277115.2(DNAH11):c.5155A>G (p.Thr1719Ala) rs369965539 0.00003
NM_001349253.2(SCN11A):c.1061G>A (p.Arg354Gln) rs1380372157 0.00003
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400 0.00003
NM_001458.5(FLNC):c.6595G>A (p.Gly2199Arg) rs368977589 0.00003
NM_002471.4(MYH6):c.2018G>A (p.Arg673His) rs1023327699 0.00003
NM_003476.5(CSRP3):c.191G>A (p.Arg64His) rs375014380 0.00003
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His) rs782013532 0.00003
NM_005360.5(MAF):c.412C>A (p.Leu138Met) rs771268967 0.00003
NM_005477.3(HCN4):c.3229G>A (p.Gly1077Ser) rs746291340 0.00003
NM_005529.7(HSPG2):c.10061G>A (p.Arg3354His) rs776453694 0.00003
NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys) rs374155761 0.00003
NM_015459.5(ATL3):c.1346C>T (p.Thr449Met) rs775539106 0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys) rs549077153 0.00003
NM_024334.3(TMEM43):c.644A>C (p.His215Pro) rs730880225 0.00003
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys) rs764762491 0.00003
NM_033419.5(PGAP3):c.856A>G (p.Ile286Val) rs760923040 0.00003
NM_144573.4(NEXN):c.857G>A (p.Arg286Gln) rs910594117 0.00003
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr) rs1044976516 0.00003
NM_172201.2(KCNE2):c.347C>T (p.Ala116Val) rs199473367 0.00003
NM_173630.4(RTTN):c.2378G>A (p.Arg793His) rs776764068 0.00003
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu) rs771088957 0.00003
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val) rs527689947 0.00003
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln) rs748905831 0.00002
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924 0.00002
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser) rs199693280 0.00002
NM_000274.4(OAT):c.860T>C (p.Ile287Thr) rs550949287 0.00002
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala) rs779614415 0.00002
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646 0.00002
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val) rs369703183 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001037.5(SCN1B):c.448+100G>T rs779658201 0.00002
NM_001081.4(CUBN):c.3088C>A (p.Leu1030Ile) rs746111876 0.00002
NM_001103.4(ACTN2):c.646A>G (p.Met216Val) rs749019847 0.00002
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln) rs1556861372 0.00002
NM_001127178.3(PIGG):c.2770G>A (p.Ala924Thr) rs771098011 0.00002
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) rs150331990 0.00002
NM_001134363.3(RBM20):c.710G>T (p.Gly237Val) rs761557813 0.00002
NM_001184880.2(PCDH19):c.1210A>G (p.Thr404Ala) rs746891808 0.00002
NM_001242896.3(DEPDC5):c.95A>G (p.His32Arg) rs760541660 0.00002
NM_001276277.3(PPIP5K2):c.685C>T (p.Arg229Ter) rs782783744 0.00002
NM_001281740.3(FHOD3):c.1909C>T (p.Arg637Trp) rs758818742 0.00002
NM_001308093.3(GATA4):c.912+5G>A rs371005520 0.00002
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser) rs757161449 0.00002
NM_001371928.1(AHDC1):c.3005A>G (p.Tyr1002Cys) rs914917557 0.00002
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys) rs565098671 0.00002
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe) rs372187548 0.00002
NM_001458.5(FLNC):c.1309C>T (p.Arg437Cys) rs374847180 0.00002
NM_001458.5(FLNC):c.5408G>A (p.Arg1803Gln) rs757482925 0.00002
NM_001458.5(FLNC):c.6041T>C (p.Val2014Ala) rs765064363 0.00002
NM_001613.4(ACTA2):c.1120C>T (p.Arg374Cys) rs757166963 0.00002
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser) rs750006303 0.00002
NM_001987.5(ETV6):c.116G>A (p.Arg39Gln) rs144209028 0.00002
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr) rs778577575 0.00002
NM_003849.4(SUCLG1):c.113T>C (p.Ile38Thr) rs1672909095 0.00002
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln) rs1057522606 0.00002
NM_004606.5(TAF1):c.2617A>G (p.Thr873Ala) rs1358610598 0.00002
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046 0.00002
NM_014231.5(VAMP1):c.3-6C>T rs749846681 0.00002
NM_014244.5(ADAMTS2):c.2903G>A (p.Arg968Gln) rs777490675 0.00002
NM_014855.3(AP5Z1):c.2352C>A (p.Asn784Lys) rs748913228 0.00002
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His) rs1410635948 0.00002
NM_015346.4(ZFYVE26):c.2539G>A (p.Ala847Thr) rs570114196 0.00002
NM_015346.4(ZFYVE26):c.3172C>T (p.Arg1058Trp) rs200775182 0.00002
NM_016729.3(FOLR1):c.10C>T (p.Arg4Trp) rs112062510 0.00002
NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser) rs768570882 0.00002
NM_018136.5(ASPM):c.2629+3A>G rs758509567 0.00002
NM_020778.5(ALPK3):c.4184C>G (p.Ser1395Cys) rs192472249 0.00002
NM_033026.6(PCLO):c.6916A>G (p.Lys2306Glu) rs747750190 0.00002
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val) rs147945173 0.00002
NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu) rs140364490 0.00002
NM_000021.4(PSEN1):c.1315A>G (p.Ile439Val) rs63750249 0.00001
NM_000051.4(ATM):c.1709T>C (p.Phe570Ser) rs777301065 0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu) rs758908522 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) rs781660254 0.00001
NM_000092.5(COL4A4):c.4792G>A (p.Gly1598Arg) rs1403779580 0.00001
NM_000132.4(F8):c.1835G>A (p.Arg612His) rs782473762 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser) rs776371246 0.00001
NM_000138.5(FBN1):c.6163+2dup rs794728315 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln) rs369571296 0.00001
NM_000238.4(KCNH2):c.2092G>A (p.Glu698Lys) rs753966347 0.00001
NM_000238.4(KCNH2):c.2588G>A (p.Arg863Gln) rs939435672 0.00001
NM_000238.4(KCNH2):c.2783G>A (p.Gly928Glu) rs1339223823 0.00001
NM_000238.4(KCNH2):c.3469C>T (p.Pro1157Ser) rs1449906095 0.00001
NM_000264.5(PTCH1):c.2676C>G (p.Ser892Arg) rs1427672162 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000307.5(POU3F4):c.914C>T (p.Ala305Val) rs1354177998 0.00001
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462 0.00001
NM_000371.4(TTR):c.367C>T (p.Arg123Cys) rs371566010 0.00001
NM_000435.3(NOTCH3):c.1649C>T (p.Ser550Phe) rs1210611177 0.00001
NM_000441.2(SLC26A4):c.736A>C (p.Asn246His) rs147078785 0.00001
NM_000548.5(TSC2):c.5011G>A (p.Val1671Met) rs775395648 0.00001
NM_000719.7(CACNA1C):c.4074+6C>T rs762974366 0.00001
NM_000719.7(CACNA1C):c.4946T>C (p.Leu1649Pro) rs762182784 0.00001
NM_000719.7(CACNA1C):c.6328G>T (p.Gly2110Cys) rs778550803 0.00001
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn) rs1085307949 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser) rs1163700577 0.00001
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val) rs144338515 0.00001
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288 0.00001
NM_001018005.2(TPM1):c.240+4493G>A rs869025540 0.00001
NM_001039591.3(USP9X):c.7663T>C (p.Ter2555Arg) rs1186325484 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001089.3(ABCA3):c.1408A>C (p.Met470Leu) rs772941826 0.00001
NM_001099922.3(ALG13):c.2066A>G (p.Tyr689Cys) rs1470650822 0.00001
NM_001103.4(ACTN2):c.1985G>A (p.Arg662Gln) rs764931229 0.00001
NM_001127178.3(PIGG):c.2499G>C (p.Lys833Asn) rs1056486559 0.00001
NM_001127208.3(TET2):c.4600C>T (p.Gln1534Ter) rs966055775 0.00001
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245 0.00001
NM_001128126.3(AP4S1):c.306+4281A>G rs1228214819 0.00001
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln) rs751423380 0.00001
NM_001134363.3(RBM20):c.404A>G (p.Asn135Ser) rs1460527562 0.00001
NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met) rs530565802 0.00001
NM_001184880.2(PCDH19):c.1982A>C (p.Tyr661Ser) rs1928354837 0.00001
NM_001199753.2(CPT1C):c.449G>A (p.Trp150Ter) rs772980944 0.00001
NM_001205293.3(CACNA1E):c.2387C>T (p.Ala796Val) rs1320817023 0.00001
NM_001242896.3(DEPDC5):c.4097G>A (p.Arg1366Gln) rs1064795095 0.00001
NM_001252102.2(KIF21B):c.865C>T (p.Arg289Trp) rs1459259252 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_001281740.3(FHOD3):c.1016G>A (p.Arg339Gln) rs545624410 0.00001
NM_001281740.3(FHOD3):c.2263T>A (p.Ser755Thr) rs149817279 0.00001
NM_001303052.2(MYT1L):c.634G>A (p.Ala212Thr) rs1277588922 0.00001
NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr) rs864321699 0.00001
NM_001348768.2(HECW2):c.1072C>T (p.Pro358Ser) rs1194444336 0.00001
NM_001352754.2(ARMC9):c.2411C>T (p.Ala804Val) rs1477308302 0.00001
NM_001371986.1(UNC80):c.9497C>T (p.Thr3166Met) rs529047309 0.00001
NM_001374353.1(GLI2):c.2831C>T (p.Ala944Val) rs1357813577 0.00001
NM_001378120.1(MBD5):c.103C>A (p.Leu35Ile) rs1201462027 0.00001
NM_001378414.1(HDAC4):c.145A>G (p.Met49Val) rs1209314417 0.00001
NM_001379291.1(BRD4):c.1507T>A (p.Ser503Thr) rs1279388211 0.00001
NM_001379451.1(BCORL1):c.4184C>T (p.Ser1395Leu) rs1223782435 0.00001
NM_001386795.1(DTNA):c.*2581G>A rs1316954336 0.00001
NM_001393504.1(MAST3):c.3853G>A (p.Glu1285Lys) rs1414358056 0.00001
NM_001394998.1(TANC2):c.2500C>T (p.Arg834Cys) rs1282488329 0.00001
NM_001458.5(FLNC):c.2278G>A (p.Glu760Lys) rs772574007 0.00001
NM_001458.5(FLNC):c.4471G>A (p.Val1491Met) rs186904046 0.00001
NM_001458.5(FLNC):c.470G>A (p.Arg157His) rs752919962 0.00001
NM_001458.5(FLNC):c.490C>T (p.Arg164Trp) rs1460797312 0.00001
NM_001458.5(FLNC):c.5051C>T (p.Thr1684Met) rs1294213097 0.00001
NM_001458.5(FLNC):c.5828C>T (p.Thr1943Ile) rs376413798 0.00001
NM_001458.5(FLNC):c.6233T>C (p.Ile2078Thr) rs780762913 0.00001
NM_001458.5(FLNC):c.7226G>A (p.Arg2409His) rs767279710 0.00001
NM_001458.5(FLNC):c.7795G>A (p.Gly2599Arg) rs1389561527 0.00001
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met) rs1597435885 0.00001
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu) rs1246068842 0.00001
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=) rs925297712 0.00001
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu) rs891008017 0.00001
NM_001845.6(COL4A1):c.1238C>T (p.Pro413Leu) rs758969549 0.00001
NM_001845.6(COL4A1):c.1837C>G (p.Pro613Ala) rs1432737813 0.00001
NM_001845.6(COL4A1):c.4423T>C (p.Tyr1475His) rs775952266 0.00001
NM_001845.6(COL4A1):c.4940C>T (p.Pro1647Leu) rs201767532 0.00001
NM_001851.6(COL9A1):c.2404G>A (p.Gly802Ser) rs774610828 0.00001
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln) rs774411234 0.00001
NM_001999.4(FBN2):c.5800+10G>A rs546373462 0.00001
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu) rs863223611 0.00001
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser) rs765867245 0.00001
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser) rs199808954 0.00001
NM_002025.4(AFF2):c.3038C>T (p.Thr1013Met) rs969709894 0.00001
NM_002025.4(AFF2):c.3164G>A (p.Ser1055Asn) rs781968104 0.00001
NM_002430.3(MN1):c.2783C>T (p.Ser928Leu) rs746306235 0.00001
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys) rs778886029 0.00001
NM_002641.4(PIGA):c.1177A>G (p.Arg393Gly) rs781095752 0.00001
NM_002691.4(POLD1):c.2574G>T (p.Glu858Asp) rs1060501820 0.00001
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys) rs746613906 0.00001
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met) rs150730493 0.00001
NM_002880.4(RAF1):c.236A>G (p.His79Arg) rs1387880716 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003070.5(SMARCA2):c.2126C>T (p.Ser709Leu) rs199989401 0.00001
NM_003179.3(SYP):c.367G>A (p.Ala123Thr) rs782495354 0.00001
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674 0.00001
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr) rs80338884 0.00001
NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys) rs764028978 0.00001
NM_003242.6(TGFBR2):c.1681G>A (p.Gly561Ser) rs768103695 0.00001
NM_003476.5(CSRP3):c.538G>T (p.Gly180Cys) rs547374738 0.00001
NM_003545.4(H4C5):c.52C>T (p.Arg18Cys) rs776145717 0.00001
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter) rs758903488 0.00001
NM_003668.4(MAPKAPK5):c.590C>T (p.Ala197Val) rs947286159 0.00001
NM_003705.5(SLC25A12):c.870G>C (p.Glu290Asp) rs757002057 0.00001
NM_004006.3(DMD):c.2303G>A (p.Arg768Gln) rs769377296 0.00001
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val) rs761953453 0.00001
NM_004281.4(BAG3):c.337G>A (p.Val113Ile) rs781093275 0.00001
NM_004522.3(KIF5C):c.1700C>T (p.Thr567Ile) rs1297108227 0.00001
NM_004958.4(MTOR):c.5431C>T (p.Arg1811Cys) rs1258909652 0.00001
NM_005245.4(FAT1):c.10481A>G (p.Gln3494Arg) rs766881276 0.00001
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) rs542392980 0.00001
NM_005529.7(HSPG2):c.7012G>A (p.Gly2338Ser) rs374914708 0.00001
NM_005993.5(TBCD):c.3538G>A (p.Val1180Ile) rs767635450 0.00001
NM_006015.6(ARID1A):c.6466A>G (p.Ser2156Gly) rs1191962249 0.00001
NM_007055.4(POLR3A):c.2672G>A (p.Arg891Gln) rs1192248453 0.00001
NM_007078.3(LDB3):c.1633A>G (p.Ser545Gly) rs1370639524 0.00001
NM_007317.3(KIF22):c.641C>A (p.Pro214His) rs1024180320 0.00001
NM_012414.4(RAB3GAP2):c.511-7C>T rs748684063 0.00001
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu) rs756751089 0.00001
NM_013450.4(BAZ2B):c.5599G>A (p.Asp1867Asn) rs1166745502 0.00001
NM_014112.5(TRPS1):c.2017G>A (p.Val673Ile) rs371305338 0.00001
NM_014391.3(ANKRD1):c.523G>A (p.Ala175Thr) rs914206942 0.00001
NM_014855.3(AP5Z1):c.2399G>A (p.Arg800Lys) rs754594403 0.00001
NM_014855.3(AP5Z1):c.869G>A (p.Arg290Gln) rs778734781 0.00001
NM_015178.3(RHOBTB2):c.779T>C (p.Leu260Pro) rs1018003807 0.00001
NM_015295.3(SMCHD1):c.4316A>G (p.Asn1439Ser) rs767898877 0.00001
NM_015335.5(MED13L):c.3818C>T (p.Thr1273Met) rs775807063 0.00001
NM_015355.4(SUZ12):c.1874+8A>G rs1910003061 0.00001
NM_015557.3(CHD5):c.5305A>G (p.Asn1769Asp) rs754161216 0.00001
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln) rs770654508 0.00001
NM_016284.5(CNOT1):c.2129A>C (p.Gln710Pro) rs770253714 0.00001
NM_016373.4(WWOX):c.500G>A (p.Arg167His) rs377356629 0.00001
NM_017635.5(KMT5B):c.1690T>C (p.Tyr564His) rs1238524382 0.00001
NM_018670.4(MESP1):c.139C>G (p.Pro47Ala) rs933736116 0.00001
NM_020297.4(ABCC9):c.2950C>T (p.Arg984Cys) rs78979794 0.00001
NM_020338.4(ZMIZ1):c.118G>A (p.Gly40Arg) rs764524923 0.00001
NM_020778.5(ALPK3):c.515T>G (p.Met172Arg) rs767791247 0.00001
NM_020791.4(TAOK1):c.2494C>T (p.Arg832Cys) rs372056956 0.00001
NM_020975.6(RET):c.334C>T (p.Arg112Cys) rs762626209 0.00001
NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs) rs772188600 0.00001
NM_021098.3(CACNA1H):c.2471C>T (p.Ala824Val) rs772602372 0.00001
NM_021625.5(TRPV4):c.1277C>T (p.Thr426Met) rs757522459 0.00001
NM_021957.4(GYS2):c.1331C>A (p.Thr444Asn) rs759192462 0.00001
NM_022114.4(PRDM16):c.1573C>T (p.Arg525Trp) rs369644938 0.00001
NM_022370.4(ROBO3):c.1235C>T (p.Thr412Ile) rs537387358 0.00001
NM_022436.3(ABCG5):c.1649+2dup rs748047359 0.00001
NM_024306.5(FA2H):c.965C>T (p.Ser322Leu) rs373010581 0.00001
NM_024334.3(TMEM43):c.167G>A (p.Arg56His) rs747164382 0.00001
NM_024334.3(TMEM43):c.346C>T (p.Arg116Trp) rs752588115 0.00001
NM_024334.3(TMEM43):c.895A>G (p.Arg299Gly) rs757038162 0.00001
NM_024580.6(EFL1):c.787C>G (p.Leu263Val) rs751006899 0.00001
NM_025137.4(SPG11):c.6428A>C (p.His2143Pro) rs1490278448 0.00001
NM_031220.4(PITPNM3):c.2166G>C (p.Gln722His) rs368515060 0.00001
NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln) rs375143574 0.00001
NM_031407.7(HUWE1):c.811A>G (p.Arg271Gly) rs797044641 0.00001
NM_032119.4(ADGRV1):c.1309C>T (p.Arg437Trp) rs765063390 0.00001
NM_032119.4(ADGRV1):c.5521C>T (p.Arg1841Cys) rs367621359 0.00001
NM_032588.4(TRIM63):c.335G>A (p.Arg112Gln) rs775364417 0.00001
NM_032620.4(GTPBP3):c.1385G>A (p.Arg462Gln) rs753748448 0.00001
NM_053025.4(MYLK):c.3916G>A (p.Gly1306Ser) rs755117377 0.00001
NM_138422.4(ADAT3):c.748C>T (p.Arg250Cys) rs1368212261 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys) rs1347911533 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_152490.5(B3GALNT2):c.205G>A (p.Val69Met) rs534508633 0.00001
NM_153676.4(USH1C):c.194T>C (p.Leu65Pro) rs1186965957 0.00001
NM_170675.5(MEIS2):c.505G>A (p.Asp169Asn) rs1039511168 0.00001
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro) rs1057516116 0.00001
NM_172201.2(KCNE2):c.160A>G (p.Met54Val) rs371724328 0.00001
NM_172240.3(POC1B):c.103A>G (p.Thr35Ala) rs1457032726 0.00001
NM_173630.4(RTTN):c.3787C>G (p.Leu1263Val) rs769785834 0.00001
NM_176787.5(PIGN):c.1379T>C (p.Leu460Ser) rs1250732619 0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn) rs759839598 0.00001
NM_198271.5(LMOD3):c.166G>A (p.Asp56Asn) rs1469953832 0.00001
NM_198334.3(GANAB):c.2830C>T (p.Arg944Ter) rs781470089 0.00001
NM_198578.4(LRRK2):c.4235G>A (p.Arg1412Gln) rs751263185 0.00001
NM_206933.4(USH2A):c.5298+5G>A rs1176314553 0.00001
NC_000007.14:g.158815519_159037266dup
NC_000012.12:g.132237283_132491257dup
NC_000016.10:g.14683149_16205174dup
NC_012920.1(MT-CYB):m.12278T>C rs1603223646
NM_000016.6(ACADM):c.71A>G (p.His24Arg)
NM_000033.4(ABCD1):c.896A>G (p.His299Arg) rs782430461
NM_000052.7(ATP7A):c.120+7T>C rs2149073895
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg)
NM_000052.7(ATP7A):c.3511+8A>C rs2149107265
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile) rs876661235
NM_000053.4(ATP7B):c.236G>A (p.Arg79Lys)
NM_000071.3(CBS):c.209C>G (p.Pro70Arg)
NM_000088.4(COL1A1):c.4369G>C (p.Asp1457His)
NM_000091.5(COL4A3):c.1304C>T (p.Pro435Leu) rs2070741592
NM_000092.5(COL4A4):c.4367A>G (p.Lys1456Arg) rs770419378
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_000093.5(COL5A1):c.3865G>A (p.Glu1289Lys)
NM_000093.5(COL5A1):c.622G>A (p.Gly208Ser)
NM_000093.5(COL5A1):c.775C>G (p.Pro259Ala)
NM_000110.4(DPYD):c.1757T>C (p.Val586Ala)
NM_000110.4(DPYD):c.1905+17A>G
NM_000110.4(DPYD):c.2183G>T (p.Gly728Val)
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
NM_000123.4(ERCC5):c.1669G>A (p.Asp557Asn)
NM_000123.4(ERCC5):c.2600C>T (p.Pro867Leu) rs573839835
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser) rs1381506466
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu) rs749196340
NM_000141.5(FGFR2):c.763C>T (p.Arg255Trp)
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000153.4(GALC):c.82G>T (p.Ala28Ser)
NM_000158.4(GBE1):c.1644G>C (p.Trp548Cys) rs1703086549
NM_000168.6(GLI3):c.1627G>A (p.Glu543Lys) rs121917711
NM_000168.6(GLI3):c.2686G>C (p.Asp896His)
NM_000181.4(GUSB):c.1574T>C (p.Phe525Ser)
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000193.4(SHH):c.494C>A (p.Ala165Glu)
NM_000199.5(SGSH):c.617G>A (p.Arg206His)
NM_000202.8(IDS):c.890G>A (p.Arg297His)
NM_000206.3(IL2RG):c.75_77del (p.Thr26del) rs758742212
NM_000214.3(JAG1):c.744A>T (p.Pro248=)
NM_000238.4(KCNH2):c.1015A>T (p.Asn339Tyr)
NM_000238.4(KCNH2):c.1225G>A (p.Val409Met) rs539146547
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro) rs1801182500
NM_000238.4(KCNH2):c.1900A>C (p.Thr634Pro)
NM_000238.4(KCNH2):c.243G>C (p.Gln81His) rs199472849
NM_000238.4(KCNH2):c.2482T>C (p.Cys828Arg) rs1801029729
NM_000238.4(KCNH2):c.508CTG[4] (p.Leu171_Ala172insLeuLeu) rs1801462189
NM_000238.4(KCNH2):c.731C>G (p.Ala244Gly) rs748762712
NM_000257.4(MYH7):c.3325A>G (p.Lys1109Glu) rs1429196201
NM_000260.4(MYO7A):c.2120G>C (p.Arg707Pro) rs782176754
NM_000260.4(MYO7A):c.5422_5436del (p.Pro1808_Glu1812del) rs1957277819
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr) rs781101191
NM_000264.5(PTCH1):c.2388A>C (p.Lys796Asn)
NM_000264.5(PTCH1):c.431G>A (p.Arg144His) rs1316474105
NM_000271.5(NPC1):c.1289C>G (p.Pro430Arg) rs2145455455
NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu) rs1064793791
NM_000271.5(NPC1):c.1312C>A (p.Gln438Lys)
NM_000271.5(NPC1):c.631+5G>A
NM_000276.4(OCRL):c.1190T>A (p.Met397Lys)
NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg)
NM_000284.4(PDHA1):c.194A>C (p.Tyr65Ser)
NM_000284.4(PDHA1):c.57+2505C>G
NM_000291.4(PGK1):c.418-7T>G
NM_000291.4(PGK1):c.522C>T (p.Ser174=)
NM_000297.4(PKD2):c.1790T>G (p.Leu597Arg)
NM_000297.4(PKD2):c.2475_2477del (p.Arg827del)
NM_000297.4(PKD2):c.2522+1G>T
NM_000297.4(PKD2):c.908C>G (p.Ala303Gly)
NM_000314.8(PTEN):c.-307del rs1858374988
NM_000314.8(PTEN):c.-318G>T rs2132143454
NM_000314.8(PTEN):c.254-6C>T rs1057520525
NM_000335.5(SCN5A):c.3803A>G (p.Asn1268Ser) rs761274563
NM_000335.5(SCN5A):c.5896del (p.Ser1966fs)
NM_000338.3(SLC12A1):c.1511C>T (p.Thr504Ile)
NM_000345.4(SNCA):c.89C>G (p.Ala30Gly) rs2110525413
NM_000348.4(SRD5A2):c.699-3T>C
NM_000350.3(ABCA4):c.1254T>A (p.Phe418Leu)
NM_000350.3(ABCA4):c.1267_1268inv (p.His423Cys)
NM_000350.3(ABCA4):c.173A>T (p.Asn58Ile)
NM_000350.3(ABCA4):c.5905G>A (p.Gly1969Ser)
NM_000368.5(TSC1):c.2502G>A (p.Lys834=)
NM_000381.4(MID1):c.1649G>A (p.Ser550Asn)
NM_000390.4(CHM):c.1960T>C (p.Ter654Gln) rs1168750683
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu) rs727503953
NM_000404.4(GLB1):c.2010dup (p.Asp671fs) rs1165249729
NM_000426.4(LAMA2):c.5968+5G>C rs1462533216
NM_000432.4(MYL2):c.205A>C (p.Met69Leu) rs2136772287
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
NM_000435.3(NOTCH3):c.2723T>A (p.Phe908Tyr)
NM_000435.3(NOTCH3):c.457C>A (p.Arg153Ser)
NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)
NM_000435.3(NOTCH3):c.6620G>A (p.Arg2207Gln)
NM_000458.4(HNF1B):c.1580G>A (p.Arg527Gln)
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.658G>C (p.Asp220His) rs377555356
NM_000458.4(HNF1B):c.758A>T (p.Gln253Leu)
NM_000466.3(PEX1):c.1730G>A (p.Arg577His)
NM_000466.3(PEX1):c.2165T>C (p.Leu722Pro)
NM_000466.3(PEX1):c.3085G>T (p.Asp1029Tyr)
NM_000487.6(ARSA):c.1360G>A (p.Val454Met)
NM_000493.4(COL10A1):c.1637T>A (p.Val546Glu) rs2114279867
NM_000501.4(ELN):c.1484T>G (p.Val495Gly)
NM_000521.4(HEXB):c.1061A>G (p.Asp354Gly) rs781244479
NM_000548.5(TSC2):c.3671ACA[1] (p.Asn1225del) rs2151481692
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg) rs2090628516
NM_000642.3(AGL):c.2681+4dup rs754242194
NM_000701.8(ATP1A1):c.8A>C (p.Lys3Thr) rs976510541
NM_000719.7(CACNA1C):c.1237G>A (p.Glu413Lys)
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys) rs1057524804
NM_000719.7(CACNA1C):c.2530+4C>T rs2153232586
NM_000719.7(CACNA1C):c.3159A>G (p.Gly1053=) rs764298283
NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp) rs2153572497
NM_000719.7(CACNA1C):c.4910A>G (p.Gln1637Arg)
NM_000719.7(CACNA1C):c.5098G>C (p.Gly1700Arg) rs761966966
NM_000719.7(CACNA1C):c.5528A>G (p.His1843Arg)
NM_000719.7(CACNA1C):c.5609C>A (p.Thr1870Lys) rs201777030
NM_000722.4(CACNA2D1):c.2207C>G (p.Ala736Gly)
NM_000760.4(CSF3R):c.2495C>A (p.Ala832Glu)
NM_000781.3(CYP11A1):c.425+4A>T
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg)
NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser) rs763319754
NM_000814.6(GABRB3):c.1340C>T (p.Ala447Val)
NM_000815.5(GABRD):c.286C>T (p.Arg96Trp)
NM_000827.4(GRIA1):c.269A>C (p.Glu90Ala) rs2149453376
NM_000834.5(GRIN2B):c.4244C>G (p.Ser1415Trp)
NM_000883.4(IMPDH1):c.662G>A (p.Arg221Gln)
NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)
NM_000901.5(NR3C2):c.56G>A (p.Trp19Ter) rs1553943428
NM_000937.5(POLR2A):c.5672C>T (p.Thr1891Ile)
NM_000969.5(RPL5):c.528-1G>A
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
NM_001003694.2(BRPF1):c.1870A>G (p.Ile624Val)
NM_001003694.2(BRPF1):c.1952A>G (p.Asn651Ser)
NM_001003694.2(BRPF1):c.1990G>A (p.Glu664Lys)
NM_001003694.2(BRPF1):c.218A>G (p.Lys73Arg) rs1447732161
NM_001003694.2(BRPF1):c.2573G>T (p.Cys858Phe)
NM_001003694.2(BRPF1):c.809T>A (p.Val270Glu)
NM_001003694.2(BRPF1):c.89A>G (p.Lys30Arg)
NM_001005242.3(PKP2):c.1114G>A (p.Ala372Thr) rs200586695
NM_001005242.3(PKP2):c.1163G>C (p.Arg388Pro) rs756000218
NM_001005242.3(PKP2):c.964G>A (p.Gly322Ser) rs200069860
NM_001005273.3(CHD3):c.2947A>G (p.Ile983Val)
NM_001005273.3(CHD3):c.4381C>T (p.Arg1461Cys)
NM_001005273.3(CHD3):c.5754G>A (p.Pro1918=)
NM_001005273.3(CHD3):c.5896C>A (p.Pro1966Thr) rs201611412
NM_001005388.3(NFASC):c.22C>T (p.Pro8Ser)
NM_001007527.2(LMBRD2):c.1792G>C (p.Glu598Gln) rs1581040967
NM_001008537.3(NEXMIF):c.1382G>A (p.Arg461His)
NM_001009944.3(PKD1):c.10785C>A (p.Ser3595Arg)
NM_001009944.3(PKD1):c.10973A>G (p.Lys3658Arg)
NM_001009944.3(PKD1):c.10G>C (p.Ala4Pro)
NM_001009944.3(PKD1):c.11017-25A>C rs2151704874
NM_001009944.3(PKD1):c.11411+5G>A
NM_001009944.3(PKD1):c.11713-3C>A
NM_001009944.3(PKD1):c.11962C>T (p.Arg3988Cys) rs747425659
NM_001009944.3(PKD1):c.11988_11996del (p.Phe3996_Leu3998del)
NM_001009944.3(PKD1):c.12205A>G (p.Thr4069Ala)
NM_001009944.3(PKD1):c.12334G>C (p.Ala4112Pro)
NM_001009944.3(PKD1):c.12445-17_12445-3del rs2151678927
NM_001009944.3(PKD1):c.1265TGG[2] (p.Val424del) rs1596588396
NM_001009944.3(PKD1):c.12878G>A (p.Arg4293Gln)
NM_001009944.3(PKD1):c.2139C>A (p.Asp713Glu)
NM_001009944.3(PKD1):c.2170G>T (p.Gly724Cys)
NM_001009944.3(PKD1):c.3308T>G (p.Leu1103Arg) rs2151801930
NM_001009944.3(PKD1):c.4047C>G (p.Phe1349Leu) rs770459654
NM_001009944.3(PKD1):c.4121T>A (p.Ile1374Asn)
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu)
NM_001009944.3(PKD1):c.4451C>T (p.Pro1484Leu)
NM_001009944.3(PKD1):c.4500G>C (p.Trp1500Cys)
NM_001009944.3(PKD1):c.4572_4574del (p.Val1525del)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His)
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp) rs2151788281
NM_001009944.3(PKD1):c.6512C>A (p.Ala2171Asp)
NM_001009944.3(PKD1):c.7013T>G (p.Phe2338Cys)
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191
NM_001009944.3(PKD1):c.7324G>A (p.Glu2442Lys)
NM_001009944.3(PKD1):c.7381G>A (p.Ala2461Thr)
NM_001009944.3(PKD1):c.7390C>T (p.Arg2464Cys)
NM_001009944.3(PKD1):c.7949T>C (p.Leu2650Pro)
NM_001009944.3(PKD1):c.8072T>G (p.Leu2691Arg)
NM_001009944.3(PKD1):c.8276T>C (p.Leu2759Pro)
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr) rs879809222
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr) rs1596527405
NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg)
NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu)
NM_001009944.3(PKD1):c.8769G>C (p.Gln2923His)
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser)
NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile) rs2092053154
NM_001009944.3(PKD1):c.9602_9607del (p.Ile3201_Val3202del)
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala) rs1085307551
NM_001009999.3(KDM1A):c.1123_1126dup (p.Ile376fs)
NM_001009999.3(KDM1A):c.1974del (p.Pro659fs)
NM_001009999.3(KDM1A):c.211C>T (p.Pro71Ser)
NM_001009999.3(KDM1A):c.2435G>C (p.Gly812Ala)
NM_001009999.3(KDM1A):c.2563G>A (p.Gly855Arg)
NM_001010874.5(TECRL):c.55C>T (p.Gln19Ter)
NM_001013839.4(EXOC7):c.1776+1G>A
NM_001014437.3(CARS1):c.1013T>C (p.Ile338Thr) rs1852411252
NM_001014437.3(CARS1):c.1431C>G (p.Phe477Leu)
NM_001018005.2(TPM1):c.115-6T>C
NM_001018005.2(TPM1):c.68A>C (p.Glu23Ala) rs2140595470
NM_001018008.2(TPM1):c.707A>G (p.Asn236Ser)
NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)
NM_001024845.3(SLC6A9):c.1525_1526del (p.Ala509fs) rs749973223
NM_001029896.2(WDR45):c.1045G>A (p.Asp349Asn)
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.12340C>G (p.Arg4114Gly)
NM_001035.3(RYR2):c.13273A>G (p.Lys4425Glu) rs2149359920
NM_001035.3(RYR2):c.14722C>A (p.His4908Asn)
NM_001040142.2(SCN2A):c.2189A>T (p.Tyr730Phe)
NM_001040142.2(SCN2A):c.5750G>A (p.Arg1917Lys) rs2105403810
NM_001040142.2(SCN2A):c.606A>G (p.Ala202=) rs2105244839
NM_001040616.3(LINS1):c.1815G>T (p.Met605Ile)
NM_001042424.3(NSD2):c.2155G>A (p.Val719Met) rs200415868
NM_001042492.3(NF1):c.1865G>A (p.Cys622Tyr) rs535869486
NM_001042492.3(NF1):c.288+4A>T rs781459468
NM_001042681.2(RERE):c.2565C>A (p.His855Gln) rs1641546992
NM_001042681.2(RERE):c.2629C>A (p.Gln877Lys)
NM_001042681.2(RERE):c.2650C>T (p.Pro884Ser)
NM_001042681.2(RERE):c.2814G>C (p.Gln938His)
NM_001042681.2(RERE):c.3136C>G (p.Pro1046Ala) rs977359991
NM_001042750.2(STAG2):c.2359G>A (p.Ala787Thr)
NM_001077350.3(NPRL3):c.1557C>G (p.Tyr519Ter) rs2141895094
NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro) rs1554774207
NM_001079802.2(FKTN):c.314G>T (p.Cys105Phe) rs786205597
NM_001079872.2(CUL4B):c.2092C>T (p.His698Tyr) rs2147325555
NM_001079872.2(CUL4B):c.881G>T (p.Arg294Ile) rs866840262
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr) rs1924204795
NM_001080453.3(INTS1):c.2285C>A (p.Thr762Asn)
NM_001080453.3(INTS1):c.4969C>T (p.Arg1657Cys)
NM_001080453.3(INTS1):c.5399G>A (p.Arg1800Gln)
NM_001080453.3(INTS1):c.5776G>A (p.Glu1926Lys)
NM_001080453.3(INTS1):c.5970C>G (p.Phe1990Leu) rs138397380
NM_001080477.4(TENM3):c.4487G>A (p.Arg1496Gln)
NM_001080477.4(TENM3):c.6605C>T (p.Thr2202Met)
NM_001080517.3(SETD5):c.25G>T (p.Val9Phe)
NM_001080517.3(SETD5):c.3742C>T (p.Arg1248Trp)
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys) rs2131844929
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.9273C>G (p.Cys3091Trp) rs558940054
NM_001081550.2(THOC2):c.4318A>G (p.Ile1440Val)
NM_001083614.2(EARS2):c.1488+61del
NM_001083614.2(EARS2):c.296G>C (p.Gly99Ala)
NM_001083619.3(GRIA2):c.2491G>C (p.Ala831Pro)
NM_001083961.2(WDR62):c.3083-2A>T
NM_001083961.2(WDR62):c.3336-6C>G
NM_001083961.2(WDR62):c.4397T>A (p.Leu1466Gln) rs2145889410
NM_001083962.2(TCF4):c.1112C>T (p.Ser371Leu)
NM_001083962.2(TCF4):c.305-159dup
NM_001084.5(PLOD3):c.889C>G (p.Arg297Gly)
NM_001098.3(ACO2):c.1253C>T (p.Pro418Leu)
NM_001098.3(ACO2):c.296A>G (p.Gln99Arg)
NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser) rs374776408
NM_001099274.3(TINF2):c.896T>G (p.Val299Gly) rs1050040349
NM_001101362.3(KBTBD13):c.848dup (p.Cys284fs) rs2140545005
NM_001101426.4(CRPPA):c.1206del (p.Glu403fs)
NM_001102401.4(TTI2):c.1086C>A (p.Tyr362Ter) rs746387467
NM_001103.4(ACTN2):c.1046A>G (p.Gln349Arg)
NM_001103.4(ACTN2):c.2240C>T (p.Ala747Val) rs1060503686
NM_001105206.3(LAMA4):c.2201C>T (p.Ser734Phe)
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu) rs200881320
NM_001110556.2(FLNA):c.5143C>T (p.Pro1715Ser) rs2148107445
NM_001110556.2(FLNA):c.6667G>T (p.Gly2223Trp) rs2148103926
NM_001110556.2(FLNA):c.7403G>A (p.Gly2468Asp)
NM_001111125.3(IQSEC2):c.2750G>C (p.Gly917Ala)
NM_001111125.3(IQSEC2):c.2770A>G (p.Ile924Val) rs2147060656
NM_001111125.3(IQSEC2):c.2833G>A (p.Asp945Asn)
NM_001111125.3(IQSEC2):c.3015+3A>G
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
NM_001114753.3(ENG):c.503T>A (p.Ile168Asn) rs2131890414
NM_001122764.3(PPOX):c.491A>G (p.Asp164Gly)
NM_001127178.3(PIGG):c.228G>T (p.Leu76Phe) rs782727523
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys) rs2057841267
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu) rs1568493631
NM_001127222.2(CACNA1A):c.4328A>G (p.Asp1443Gly) rs2056674575
NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs) rs2144493067
NM_001127222.2(CACNA1A):c.7109G>A (p.Arg2370Gln)
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
NM_001127222.2(CACNA1A):c.979-3C>G
NM_001127898.4(CLCN5):c.1150T>C (p.Trp384Arg)
NM_001127898.4(CLCN5):c.1420G>A (p.Glu474Lys)
NM_001127898.4(CLCN5):c.1474G>A (p.Val492Met) rs368039993
NM_001127898.4(CLCN5):c.1A>G (p.Met1Val)
NM_001128.6(AP1G1):c.1301G>A (p.Arg434His)
NM_001130004.2(ACTN1):c.631_651del (p.Val211_Asp217del)
NM_001130053.5(EEF1D):c.1753C>T (p.Arg585Cys)
NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)
NM_001130438.3(SPTAN1):c.1708G>A (p.Ala570Thr) rs2131129868
NM_001130823.3(DNMT1):c.3256G>A (p.Glu1086Lys)
NM_001130987.2(DYSF):c.6262C>T (p.Leu2088Phe)
NM_001134232.2(TMEM106B):c.523G>A (p.Val175Ile)
NM_001134363.3(RBM20):c.1969_1970delinsAT (p.Ser657Ile)
NM_001134382.3(IQSEC1):c.2194C>T (p.Leu732Phe)
NM_001134382.3(IQSEC1):c.3028G>A (p.Gly1010Ser)
NM_001134407.3(GRIN2A):c.2572G>C (p.Gly858Arg)
NM_001134673.4(NFIA):c.186T>G (p.Ser62Arg)
NM_001134673.4(NFIA):c.293A>G (p.Lys98Arg)
NM_001134673.4(NFIA):c.310G>T (p.Val104Phe)
NM_001134673.4(NFIA):c.504A>G (p.Ile168Met)
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) rs529407899
NM_001135146.2(SLC39A8):c.16_28del (p.Ala6fs)
NM_001136157.2(OTUD5):c.491G>A (p.Gly164Asp) rs2147701465
NM_001145073.3(USP27X):c.1032G>C (p.Glu344Asp)
NM_001145358.2(SIN3A):c.3359C>G (p.Ala1120Gly) rs2141382956
NM_001145809.2(MYH14):c.2929G>C (p.Glu977Gln)
NM_001145809.2(MYH14):c.2933T>C (p.Leu978Pro)
NM_001148.6(ANK2):c.5609C>T (p.Ser1870Leu) rs869025360
NM_001160148.2(DDHD1):c.1373G>A (p.Arg458Gln) rs1884724474
NM_001160372.4(TRAPPC9):c.2892G>T (p.Lys964Asn)
NM_001162498.3(LPAR6):c.107G>A (p.Cys36Tyr) rs2138203806
NM_001162501.2(TNRC6B):c.253C>G (p.Arg85Gly)
NM_001162501.2(TNRC6B):c.3163A>G (p.Asn1055Asp) rs2146517455
NM_001162501.2(TNRC6B):c.917G>A (p.Ser306Asn)
NM_001164508.2(NEB):c.11210C>T (p.Ser3737Phe)
NM_001164508.2(NEB):c.20456G>A (p.Arg6819Gln)
NM_001164508.2(NEB):c.23034T>A (p.Asp7678Glu)
NM_001165963.4(SCN1A):c.1727G>A (p.Ser576Asn) rs1697492585
NM_001165963.4(SCN1A):c.4837A>G (p.Ile1613Val)
NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp) rs748090629
NM_001165963.4(SCN1A):c.836A>G (p.Gln279Arg)
NM_001165963.4(SCN1A):c.926_931del (p.Val309_Phe310del) rs2105888808
NM_001166114.2(PNPLA6):c.1612G>A (p.Val538Met)
NM_001170629.2(CHD8):c.2764G>A (p.Ala922Thr) rs1013103711
NM_001170629.2(CHD8):c.4448G>C (p.Cys1483Ser)
NM_001170629.2(CHD8):c.6601C>T (p.Pro2201Ser)
NM_001170629.2(CHD8):c.6853AAG[2] (p.Lys2287del) rs755776815
NM_001170629.2(CHD8):c.7533G>C (p.Leu2511Phe)
NM_001171.6(ABCC6):c.1576C>T (p.Arg526Trp)
NM_001172509.2(SATB2):c.1628G>A (p.Arg543His)
NM_001174147.2(LMX1B):c.886+36G>A
NM_001177676.2(GPR68):c.975dup (p.Glu326fs)
NM_001184880.2(PCDH19):c.475G>C (p.Gly159Arg)
NM_001190274.2(FBXO11):c.1272G>C (p.Glu424Asp) rs1487329821
NM_001190737.2(NFIB):c.328G>A (p.Asp110Asn)
NM_001190737.2(NFIB):c.799C>G (p.Pro267Ala)
NM_001190737.2(NFIB):c.86A>G (p.Tyr29Cys)
NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met) rs758884514
NM_001195263.2(PDZD7):c.680G>A (p.Arg227His) rs200730376
NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser)
NM_001197104.2(KMT2A):c.1082T>C (p.Ile361Thr)
NM_001197104.2(KMT2A):c.1610G>C (p.Ser537Thr)
NM_001197104.2(KMT2A):c.209G>A (p.Ser70Asn) rs1177309170
NM_001197104.2(KMT2A):c.2326G>C (p.Val776Leu)
NM_001197104.2(KMT2A):c.3283G>A (p.Ala1095Thr)
NM_001197104.2(KMT2A):c.4915C>A (p.Leu1639Ile)
NM_001197104.2(KMT2A):c.5005-3T>C
NM_001197104.2(KMT2A):c.526C>T (p.Arg176Cys)
NM_001197104.2(KMT2A):c.6709A>G (p.Thr2237Ala) rs1950517622
NM_001197104.2(KMT2A):c.9911T>G (p.Leu3304Arg)
NM_001198533.2(OXR1):c.221-21184C>T
NM_001202.6(BMP4):c.169T>C (p.Phe57Leu)
NM_001204.7(BMPR2):c.89A>G (p.Gln30Arg)
NM_001205293.3(CACNA1E):c.2603A>G (p.Asp868Gly)
NM_001205293.3(CACNA1E):c.4165C>T (p.Arg1389Ter) rs2102689215
NM_001205293.3(CACNA1E):c.4608C>T (p.Asn1536=) rs2102718155
NM_001205293.3(CACNA1E):c.6581C>G (p.Pro2194Arg)
NM_001206999.2(CIT):c.4933C>A (p.Gln1645Lys)
NM_001206999.2(CIT):c.731C>T (p.Ala244Val)
NM_001211.6(BUB1B):c.1375A>C (p.Thr459Pro)
NM_001220.5(CAMK2B):c.1310del (p.Pro437fs)
NM_001220.5(CAMK2B):c.1837G>C (p.Asp613His)
NM_001242896.3(DEPDC5):c.4633G>A (p.Gly1545Ser) rs1229311796
NM_001242896.3(DEPDC5):c.4790A>G (p.Lys1597Arg)
NM_001243133.2(NLRP3):c.2068G>A (p.Glu690Lys) rs180177495
NM_001243226.3(TCF4):c.86T>C (p.Met29Thr) rs748774594
NM_001244926.2(PRPF4):c.750-11G>A
NM_001253852.3(AP4B1):c.1075G>A (p.Val359Met)
NM_001256007.3(PNPLA8):c.1844T>A (p.Phe615Tyr)
NM_001256007.3(PNPLA8):c.2161G>A (p.Glu721Lys) rs1859698620
NM_001256007.3(PNPLA8):c.929T>C (p.Val310Ala)
NM_001257096.2(PAX1):c.967T>C (p.Trp323Arg)
NM_001257180.2(SLC20A2):c.1933A>G (p.Met645Val)
NM_001257180.2(SLC20A2):c.857C>G (p.Pro286Arg) rs781554326
NM_001258330.1(EPB41L1):c.17G>A (p.Arg6Lys)
NM_001260.3(CDK8):c.1299C>G (p.Asn433Lys)
NM_001260.3(CDK8):c.32G>A (p.Ser11Asn)
NM_001270.4(CHD1):c.2353C>T (p.Arg785Cys) rs781480692
NM_001270.4(CHD1):c.3547A>G (p.Ser1183Gly)
NM_001270.4(CHD1):c.3571+5C>T rs2112334290
NM_001270.4(CHD1):c.679A>G (p.Asn227Asp)
NM_001271.4(CHD2):c.2689G>A (p.Ala897Thr)
NM_001271.4(CHD2):c.4074G>T (p.Glu1358Asp)
NM_001271.4(CHD2):c.4964C>T (p.Pro1655Leu)
NM_001273.5(CHD4):c.1075G>A (p.Val359Met)
NM_001273.5(CHD4):c.1573G>A (p.Ala525Thr)
NM_001273.5(CHD4):c.1822A>T (p.Met608Leu)
NM_001273.5(CHD4):c.257C>T (p.Ser86Phe)
NM_001273.5(CHD4):c.3407C>T (p.Ala1136Val)
NM_001273.5(CHD4):c.4612C>T (p.Pro1538Ser)
NM_001273.5(CHD4):c.5432C>T (p.Pro1811Leu)
NM_001276345.2(TNNT2):c.143C>T (p.Thr48Ile)
NM_001276345.2(TNNT2):c.298A>G (p.Ile100Val)
NM_001276345.2(TNNT2):c.408G>C (p.Arg136Ser) rs2102260528
NM_001276345.2(TNNT2):c.411+7G>C
NM_001276345.2(TNNT2):c.412-200G>C
NM_001276345.2(TNNT2):c.550AAG[2] (p.Lys186del) rs1558225172
NM_001276345.2(TNNT2):c.571A>G (p.Met191Val)
NM_001276345.2(TNNT2):c.852-3C>A
NM_001277115.2(DNAH11):c.12371T>C (p.Leu4124Ser)
NM_001278116.2(L1CAM):c.3755C>A (p.Pro1252His) rs2148491854
NM_001278116.2(L1CAM):c.574_582dup (p.Tyr194_Phe195insAsnLeuTyr) rs2148498765
NM_001281740.3(FHOD3):c.1646+2T>C
NM_001281740.3(FHOD3):c.1970G>A (p.Ser657Asn) rs202238556
NM_001281740.3(FHOD3):c.3128G>A (p.Ser1043Asn) rs971074535
NM_001281740.3(FHOD3):c.3218C>G (p.Pro1073Arg)
NM_001281740.3(FHOD3):c.4430A>G (p.Asp1477Gly)
NM_001281740.3(FHOD3):c.80G>C (p.Arg27Pro)
NM_001282531.3(ADNP):c.1009G>A (p.Val337Ile) rs2122758058
NM_001282531.3(ADNP):c.2077A>G (p.Thr693Ala)
NM_001282531.3(ADNP):c.3110A>C (p.Glu1037Ala)
NM_001282597.3(CTNNA2):c.1057-79639G>A
NM_001286.5(CLCN6):c.1404C>G (p.Phe468Leu)
NM_001286.5(CLCN6):c.769C>A (p.Pro257Thr) rs754881055
NM_001286577.2(C2CD3):c.6807G>T (p.Leu2269=)
NM_001291303.3(FAT4):c.1219T>C (p.Phe407Leu)
NM_001291303.3(FAT4):c.1489A>G (p.Ile497Val)
NM_001291303.3(FAT4):c.2461G>C (p.Asp821His)
NM_001291415.2(KDM6A):c.1739C>T (p.Thr580Ile)
NM_001291415.2(KDM6A):c.2185C>G (p.Gln729Glu)
NM_001291415.2(KDM6A):c.225+4dup
NM_001291415.2(KDM6A):c.4222G>A (p.Val1408Ile) rs2148305714
NM_001291415.2(KDM6A):c.660A>T (p.Lys220Asn) rs587778423
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.641T>C (p.Val214Ala)
NM_001292063.2(OTOG):c.77T>A (p.Leu26Gln)
NM_001303052.2(MYT1L):c.-1+4A>C
NM_001303052.2(MYT1L):c.1035C>G (p.Asn345Lys)
NM_001303052.2(MYT1L):c.405C>G (p.Ile135Met) rs375288670
NM_001305624.1(CALM2):c.8G>A (p.Arg3His)
NM_001308093.3(GATA4):c.854_856del (p.Arg285_Asn286delinsHis)
NM_001312909.2(FAM111A):c.1408C>T (p.His470Tyr)
NM_001317778.2(SFTPC):c.443C>T (p.Pro148Leu)
NM_001318510.2(ACSL4):c.468G>T (p.Glu156Asp)
NM_001318852.2(MAPK8IP3):c.3226A>G (p.Met1076Val)
NM_001318852.2(MAPK8IP3):c.499C>T (p.Arg167Trp)
NM_001320.7(CSNK2B):c.325T>C (p.Cys109Arg)
NM_001320.7(CSNK2B):c.569T>C (p.Phe190Ser)
NM_001321075.3(DLG4):c.1690C>T (p.Pro564Ser)
NM_001321075.3(DLG4):c.352C>G (p.Leu118Val)
NM_001330260.2(SCN8A):c.1403AAG[1] (p.Glu469del)
NM_001330260.2(SCN8A):c.3113A>G (p.Tyr1038Cys)
NM_001330260.2(SCN8A):c.3577C>T (p.Leu1193Phe) rs2138871696
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.5087T>G (p.Ile1696Ser)
NM_001330311.2(DVL1):c.499C>T (p.Arg167Ter) rs775845636
NM_001330311.2(DVL1):c.691G>C (p.Ala231Pro) rs2100735835
NM_001330360.2(POLA1):c.3950G>A (p.Ser1317Asn)
NM_001346754.2(PIGW):c.464G>T (p.Arg155Ile)
NM_001347721.2(DYRK1A):c.1072-6A>G
NM_001347721.2(DYRK1A):c.1561G>A (p.Asp521Asn) rs1440750899
NM_001347721.2(DYRK1A):c.1615G>T (p.Ala539Ser)
NM_001348323.3(TRIP12):c.4789A>G (p.Ile1597Val)
NM_001348323.3(TRIP12):c.935T>G (p.Val312Gly)
NM_001348716.2(KDM6B):c.1432C>G (p.Arg478Gly)
NM_001348716.2(KDM6B):c.305G>A (p.Arg102Gln)
NM_001348768.2(HECW2):c.1462C>G (p.Leu488Val)
NM_001348768.2(HECW2):c.1772G>A (p.Ser591Asn)
NM_001348768.2(HECW2):c.1979G>A (p.Cys660Tyr)
NM_001348768.2(HECW2):c.3355C>T (p.Arg1119Ter)
NM_001348768.2(HECW2):c.3454C>G (p.Pro1152Ala)
NM_001348768.2(HECW2):c.3998A>G (p.Tyr1333Cys)
NM_001348800.3(ZBTB20):c.942G>T (p.Gln314His)
NM_001349253.2(SCN11A):c.4894A>G (p.Lys1632Glu)
NM_001349338.3(FOXP1):c.1223C>T (p.Thr408Met)
NM_001349338.3(FOXP1):c.1478_1483dup (p.Trp494_Phe495insTyrTrp)
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser) rs1559602593
NM_001349338.3(FOXP1):c.1652+546dup
NM_001349338.3(FOXP1):c.381G>C (p.Gln127His)
NM_001349999.2(RBFOX2):c.352C>T (p.Gln118Ter) rs2148138686
NM_001353345.2(SETD1B):c.1196C>A (p.Pro399Gln)
NM_001353345.2(SETD1B):c.20C>T (p.Pro7Leu) rs1052521826
NM_001353345.2(SETD1B):c.2249C>T (p.Pro750Leu) rs1261222012
NM_001353345.2(SETD1B):c.2456G>A (p.Gly819Asp)
NM_001353345.2(SETD1B):c.489C>G (p.His163Gln)
NM_001353345.2(SETD1B):c.5008C>T (p.Arg1670Trp)
NM_001354483.2(CSGALNACT1):c.657C>G (p.Asp219Glu)
NM_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys) rs2082214097
NM_001363118.2(SLC52A2):c.339CTT[1] (p.Phe114del) rs782498327
NM_001365276.1:c.(?_8144)_(9109_?)del
NM_001365276.2(TNXB):c.5336G>A (p.Gly1779Glu)
NM_001365999.1(SZT2):c.5579G>A (p.Gly1860Asp) rs1654050516
NM_001366145.2(TRPM3):c.3223+1G>A
NM_001366145.2(TRPM3):c.4493G>C (p.Trp1498Ser) rs2041829797
NM_001366385.1(CARD14):c.1790G>T (p.Arg597Leu)
NM_001367624.2(ZNF469):c.1829C>T (p.Pro610Leu)
NM_001367721.1(CASK):c.1665G>A (p.Met555Ile) rs2147155700
NM_001367873.1(SOX6):c.160G>A (p.Glu54Lys)
NM_001368397.1(FRMPD4):c.2182G>C (p.Ala728Pro) rs750615873
NM_001368809.2(AMPD2):c.2327del (p.Ile776fs) rs1651209606
NM_001368882.1(COL13A1):c.1026+1G>A rs1480562957
NM_001368894.2(PAX6):c.183C>G (p.Asn61Lys)
NM_001369.3(DNAH5):c.2283A>C (p.Arg761Ser)
NM_001371395.1(USP53):c.1702G>T (p.Asp568Tyr)
NM_001371395.1(USP53):c.2002G>A (p.Gly668Ser)
NM_001371596.2(MFSD8):c.917T>C (p.Val306Ala)
NM_001371623.1(TCOF1):c.85G>C (p.Glu29Gln)
NM_001371727.1(GABRB2):c.1059G>A (p.Met353Ile)
NM_001371727.1(GABRB2):c.376AAG[1] (p.Lys127del)
NM_001371727.1(GABRB2):c.740T>C (p.Leu247Pro)
NM_001371928.1(AHDC1):c.2956C>T (p.Pro986Ser)
NM_001371928.1(AHDC1):c.3547C>G (p.Arg1183Gly)
NM_001371928.1(AHDC1):c.4316C>T (p.Ala1439Val)
NM_001371986.1(UNC80):c.8513C>G (p.Ser2838Cys)
NM_001372044.2(SHANK3):c.938A>G (p.His313Arg)
NM_001374353.1(GLI2):c.4532C>T (p.Ala1511Val)
NM_001374736.1(DST):c.4930-1094_4930-1092del
NM_001374828.1(ARID1B):c.4510G>A (p.Gly1504Arg)
NM_001374828.1(ARID1B):c.6529C>T (p.His2177Tyr)
NM_001374828.1(ARID1B):c.7030C>T (p.Arg2344Trp)
NM_001375380.1(EBF3):c.554+5G>A rs2134610433
NM_001375524.1(TRRAP):c.10051C>T (p.Leu3351Phe) rs2116814869
NM_001375524.1(TRRAP):c.10915C>T (p.Arg3639Trp)
NM_001375524.1(TRRAP):c.11085C>A (p.Phe3695Leu)
NM_001375524.1(TRRAP):c.11591G>A (p.Arg3864His)
NM_001375524.1(TRRAP):c.2875T>G (p.Tyr959Asp) rs1789990592
NM_001375524.1(TRRAP):c.3670G>A (p.Glu1224Lys)
NM_001375524.1(TRRAP):c.5937+2T>C
NM_001375524.1(TRRAP):c.5983G>A (p.Ala1995Thr)
NM_001375524.1(TRRAP):c.7635G>C (p.Met2545Ile)
NM_001375524.1(TRRAP):c.9023-3T>C
NM_001375765.1(GIGYF1):c.2801C>T (p.Pro934Leu) rs2131367497
NM_001376.5(DYNC1H1):c.2973G>A (p.Met991Ile)
NM_001376.5(DYNC1H1):c.4501A>C (p.Ile1501Leu)
NM_001376.5(DYNC1H1):c.5597T>A (p.Phe1866Tyr) rs2141289673
NM_001376.5(DYNC1H1):c.7213G>A (p.Gly2405Arg) rs2152581608
NM_001376256.1(CRYM):c.29C>G (p.Ala10Gly)
NM_001376571.1(MADD):c.2090C>T (p.Pro697Leu)
NM_001377.3(DYNC2H1):c.5357G>C (p.Gly1786Ala) rs2134975573
NM_001377137.1(GBF1):c.5501C>T (p.Ala1834Val) rs770517190
NM_001378120.1(MBD5):c.1017TCC[1] (p.Pro342del) rs1388983985
NM_001378120.1(MBD5):c.278A>G (p.Asp93Gly)
NM_001378120.1(MBD5):c.3800C>T (p.Thr1267Ile) rs1681444814
NM_001378120.1(MBD5):c.4031C>T (p.Thr1344Ile)
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu) rs1064797002
NM_001378418.1(TCF20):c.137G>T (p.Gly46Val)
NM_001378418.1(TCF20):c.2230G>A (p.Gly744Ser)
NM_001378418.1(TCF20):c.2777G>T (p.Gly926Val) rs2147209717
NM_001378454.1(ALMS1):c.10853G>A (p.Gly3618Asp)
NM_001378454.1(ALMS1):c.12363-5C>G rs774448248
NM_001378454.1(ALMS1):c.8471C>G (p.Pro2824Arg)
NM_001378457.1(DMXL2):c.3385G>A (p.Val1129Ile) rs2043456849
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_001378964.1(CDON):c.2997del (p.Lys999fs) rs781775355
NM_001378964.1(CDON):c.640+1G>A
NM_001379200.1(TBX1):c.962T>C (p.Leu321Pro) rs2145836969
NM_001379291.1(BRD4):c.2135C>T (p.Ser712Phe) rs768842514
NM_001379451.1(BCORL1):c.1508C>T (p.Pro503Leu)
NM_001379451.1(BCORL1):c.2018G>T (p.Gly673Val)
NM_001379451.1(BCORL1):c.2314C>T (p.Gln772Ter)
NM_001379451.1(BCORL1):c.4274A>G (p.Lys1425Arg) rs2124502701
NM_001382273.1(TNK2):c.3022C>T (p.Gln1008Ter)
NM_001382430.1(AKT1):c.288-4G>T rs778501455
NM_001384125.1(BLTP1):c.10741-5T>C
NM_001384125.1(BLTP1):c.13411T>A (p.Ser4471Thr)
NM_001384125.1(BLTP1):c.14230A>G (p.Met4744Val)
NM_001384125.1(BLTP1):c.9222T>G (p.Asp3074Glu)
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001384910.1(GUCA1A):c.123G>C (p.Gln41His) rs2113833431
NM_001385012.1(NBEA):c.358T>A (p.Cys120Ser)
NM_001385012.1(NBEA):c.4367T>C (p.Ile1456Thr)
NM_001385012.1(NBEA):c.6304+5G>T rs2152930968
NM_001385012.1(NBEA):c.7502T>C (p.Ile2501Thr) rs1174437634
NM_001385012.1(NBEA):c.7568A>T (p.Tyr2523Phe)
NM_001385012.1(NBEA):c.8657C>T (p.Thr2886Ile)
NM_001386298.1(CIC):c.1216C>T (p.Pro406Ser)
NM_001386298.1(CIC):c.226C>A (p.Pro76Thr)
NM_001386298.1(CIC):c.5323C>T (p.Leu1775Phe)
NM_001386298.1(CIC):c.793G>A (p.Val265Met)
NM_001393769.1(MED12L):c.3541C>G (p.Gln1181Glu)
NM_001394372.1(BICRA):c.3799T>A (p.Ser1267Thr)
NM_001394998.1(TANC2):c.2767T>C (p.Ser923Pro) rs757337752
NM_001394998.1(TANC2):c.5519G>A (p.Ser1840Asn) rs2147427904
NM_001396959.1(TBC1D1):c.1418C>T (p.Ser473Leu) rs540156102
NM_001429.4(EP300):c.1760+6_1760+9del rs2145722830
NM_001429.4(EP300):c.1985C>A (p.Ala662Glu) rs1339311567
NM_001429.4(EP300):c.3838G>T (p.Ala1280Ser) rs2059136013
NM_001429.4(EP300):c.4438G>A (p.Val1480Ile)
NM_001448.3(GPC4):c.1425GAA[1] (p.Lys476del)
NM_001458.5(FLNC):c.233G>A (p.Ser78Asn) rs2128932201
NM_001458.5(FLNC):c.3193-2_3201del
NM_001458.5(FLNC):c.3548C>T (p.Ala1183Val)
NM_001458.5(FLNC):c.4969C>G (p.Arg1657Gly) rs1563000044
NM_001458.5(FLNC):c.5194G>A (p.Val1732Met) rs374848954
NM_001458.5(FLNC):c.5969_5983del (p.Pro1990_Lys1994del)
NM_001458.5(FLNC):c.6208+8C>G
NM_001458.5(FLNC):c.6239G>A (p.Gly2080Asp) rs2128939083
NM_001458.5(FLNC):c.699+1G>C rs1562991776
NM_001458.5(FLNC):c.699+4C>T
NM_001458.5(FLNC):c.7414G>A (p.Glu2472Lys) rs948675422
NM_001458.5(FLNC):c.7909A>C (p.Lys2637Gln) rs767794768
NM_001614.5(ACTG1):c.520G>A (p.Ala174Thr) rs587780274
NM_001655.5(ARCN1):c.440T>C (p.Val147Ala)
NM_001711.6(BGN):c.518A>G (p.Lys173Arg)
NM_001759.4(CCND2):c.559C>G (p.Leu187Val)
NM_001761.3(CCNF):c.481G>A (p.Gly161Arg)
NM_001813.3(CENPE):c.6817G>A (p.Glu2273Lys)
NM_001830.4(CLCN4):c.914T>C (p.Leu305Pro)
NM_001845.6(COL4A1):c.3934G>A (p.Val1312Ile)
NM_001845.6(COL4A1):c.4777G>A (p.Gly1593Ser)
NM_001845.6(COL4A1):c.478G>A (p.Gly160Ser) rs2139202625
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys) rs1555300086
NM_001845.6(COL4A1):c.94G>A (p.Ala32Thr) rs2139245837
NM_001846.4(COL4A2):c.1453_1469del (p.Cys485fs)
NM_001846.4(COL4A2):c.4448G>A (p.Gly1483Asp)
NM_001851.6(COL9A1):c.2260G>C (p.Gly754Arg)
NM_001851.6(COL9A1):c.2284A>G (p.Ile762Val) rs2127559477
NM_001875.5(CPS1):c.1328A>C (p.Tyr443Ser)
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser) rs761921978
NM_001875.5(CPS1):c.4463T>C (p.Leu1488Pro)
NM_001904.4(CTNNB1):c.1406G>A (p.Arg469His)
NM_001904.4(CTNNB1):c.1658T>C (p.Met553Thr) rs1328515384
NM_001904.4(CTNNB1):c.1995C>G (p.Asp665Glu) rs77750814
NM_001904.4(CTNNB1):c.2181T>G (p.Asp727Glu)
NM_001923.5(DDB1):c.2578A>G (p.Thr860Ala) rs757118401
NM_001953.5(TYMP):c.1109A>T (p.Gln370Leu) rs1276418601
NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter)
NM_001953.5(TYMP):c.695T>C (p.Val232Ala) rs1294823677
NM_001961.4(EEF2):c.1359G>A (p.Met453Ile) rs2145360047
NM_001961.4(EEF2):c.463C>A (p.Leu155Met)
NM_001987.5(ETV6):c.1152+6del rs2136596612
NM_001999.4(FBN2):c.2791C>T (p.Pro931Ser) rs779579749
NM_001999.4(FBN2):c.2940C>A (p.Cys980Ter)
NM_001999.4(FBN2):c.4157A>C (p.Asn1386Thr)
NM_001999.4(FBN2):c.489C>G (p.His163Gln) rs2112798145
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
NM_001999.4(FBN2):c.8143G>T (p.Gly2715Trp) rs772569905
NM_002016.2(FLG):c.8307G>C (p.Gln2769His)
NM_002055.5(GFAP):c.1030C>G (p.Arg344Gly)
NM_002055.5(GFAP):c.371G>A (p.Arg124Gln)
NM_002055.5(GFAP):c.476C>T (p.Thr159Ile)
NM_002069.6(GNAI1):c.869A>T (p.Tyr290Phe) rs2115713066
NM_002160.4(TNC):c.2434A>G (p.Lys812Glu)
NM_002161.6(IARS1):c.2806G>A (p.Glu936Lys)
NM_002161.6(IARS1):c.3563T>C (p.Met1188Thr)
NM_002234.4(KCNA5):c.646G>C (p.Asp216His)
NM_002340.6(LSS):c.2149_2161del (p.Gly717fs)
NM_002430.3(MN1):c.3665A>T (p.Glu1222Val)
NM_002471.4(MYH6):c.343T>C (p.Tyr115His)
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) rs201989347
NM_002471.4(MYH6):c.5407G>A (p.Glu1803Lys)
NM_002471.4(MYH6):c.5555T>C (p.Leu1852Pro) rs2138581208
NM_002472.3(MYH8):c.2172-4G>T
NM_002473.6(MYH9):c.2920A>C (p.Lys974Gln)
NM_002473.6(MYH9):c.2965A>C (p.Lys989Gln)
NM_002473.6(MYH9):c.3277G>A (p.Glu1093Lys) rs2146338775
NM_002473.6(MYH9):c.4258C>G (p.Gln1420Glu)
NM_002473.6(MYH9):c.5657C>T (p.Ala1886Val)
NM_002473.6(MYH9):c.5788G>T (p.Val1930Leu) rs142565774
NM_002474.3(MYH11):c.404C>T (p.Ser135Leu) rs760445629
NM_002480.3(PPP1R12A):c.2166A>T (p.Gln722His)
NM_002480.3(PPP1R12A):c.731AAG[2] (p.Glu246del)
NM_002496.4(NDUFS8):c.325G>A (p.Glu109Lys)
NM_002539.3(ODC1):c.912T>G (p.Asp304Glu) rs139046118
NM_002578.5(PAK3):c.1004G>A (p.Gly335Asp) rs1249190198
NM_002585.4(PBX1):c.331A>G (p.Met111Val)
NM_002608.4(PDGFB):c.70C>A (p.Pro24Thr)
NM_002637.4(PHKA1):c.2558A>T (p.His853Leu)
NM_002641.4(PIGA):c.1087A>G (p.Ile363Val)
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_002653.5(PITX1):c.934T>C (p.Tyr312His)
NM_002693.3(POLG):c.3637C>T (p.Pro1213Ser) rs2055307106
NM_002700.3(POU4F3):c.745C>A (p.Gln249Lys) rs1465371108
NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg) rs866406014
NM_002742.3(PRKD1):c.1874G>T (p.Ser625Ile)
NM_002742.3(PRKD1):c.815C>T (p.Thr272Ile)
NM_002745.5(MAPK1):c.155C>A (p.Ala52Asp) rs2145705712
NM_002764.4(PRPS1):c.733T>C (p.Tyr245His)
NM_002834.5(PTPN11):c.1205A>C (p.Lys402Thr)
NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu) rs397507536
NM_002875.5(RAD51):c.340C>G (p.Gln114Glu)
NM_002880.4(RAF1):c.1201C>T (p.Arg401Trp)
NM_002880.4(RAF1):c.545C>T (p.Thr182Ile)
NM_002880.4(RAF1):c.582-8T>G
NM_002905.5(RDH5):c.608T>A (p.Val203Glu)
NM_002968.3(SALL1):c.2846A>G (p.Gln949Arg) rs889576974
NM_002968.3(SALL1):c.3322G>T (p.Val1108Phe) rs148931484
NM_002971.6(SATB1):c.301G>A (p.Val101Met)
NM_002972.4(SBF1):c.2948T>C (p.Leu983Pro)
NM_003024.3(ITSN1):c.2122C>G (p.Leu708Val)
NM_003036.4(SKI):c.1138C>T (p.Arg380Ter)
NM_003054.6(SLC18A2):c.1196A>C (p.Asp399Ala)
NM_003070.5(SMARCA2):c.2914G>C (p.Ala972Pro) rs2130525728
NM_003070.5(SMARCA2):c.800C>G (p.Pro267Arg)
NM_003072.5(SMARCA4):c.1693A>G (p.Thr565Ala) rs765974121
NM_003072.5(SMARCA4):c.2029G>A (p.Ala677Thr) rs2088396631
NM_003072.5(SMARCA4):c.557C>G (p.Ala186Gly)
NM_003073.5(SMARCB1):c.868C>T (p.Pro290Ser)
NM_003076.5(SMARCD1):c.107C>T (p.Pro36Leu)
NM_003104.6(SORD):c.73_88del (p.Tyr25fs)
NM_003108.4(SOX11):c.724G>C (p.Glu242Gln)
NM_003184.4(TAF2):c.1152A>C (p.Lys384Asn)
NM_003184.4(TAF2):c.938A>T (p.Tyr313Phe)
NM_003193.5(TBCE):c.1410_1434dup (p.Ser479fs)
NM_003244.4(TGIF1):c.16+1578C>A
NM_003285.3(TNR):c.1267T>C (p.Phe423Leu)
NM_003285.3(TNR):c.2324G>A (p.Arg775His)
NM_003336.4(UBE2A):c.39C>A (p.Phe13Leu)
NM_003359.4(UGDH):c.311C>T (p.Ala104Val) rs1420419492
NM_003361.4(UMOD):c.115G>C (p.Ala39Pro) rs1245943973
NM_003361.4(UMOD):c.1189G>A (p.Glu397Lys)
NM_003361.4(UMOD):c.544G>A (p.Glu182Lys)
NM_003380.5(VIM):c.46G>A (p.Gly16Ser) rs773471865
NM_003413.4(ZIC3):c.1292C>T (p.Pro431Leu)
NM_003413.4(ZIC3):c.971_972delinsAA (p.Gly324Glu)
NM_003482.4(KMT2D):c.10942C>A (p.Pro3648Thr) rs777215324
NM_003482.4(KMT2D):c.11605T>A (p.Ser3869Thr)
NM_003482.4(KMT2D):c.12637C>T (p.His4213Tyr) rs1942946917
NM_003482.4(KMT2D):c.370C>T (p.Leu124Phe)
NM_003482.4(KMT2D):c.4877T>C (p.Leu1626Ser)
NM_003482.4(KMT2D):c.7778C>A (p.Pro2593His)
NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)
NM_003482.4(KMT2D):c.8699C>T (p.Pro2900Leu)
NM_003482.4(KMT2D):c.9791A>G (p.Gln3264Arg)
NM_003560.4(PLA2G6):c.562A>G (p.Thr188Ala)
NM_003573.2(LTBP4):c.76-2A>G
NM_003587.5(DHX16):c.468_469del (p.Lys157fs)
NM_003588.4(CUL4B):c.29A>C (p.Asp10Ala) rs2147360370
NM_003590.5(CUL3):c.2092G>A (p.Asp698Asn)
NM_003718.5(CDK13):c.1768A>G (p.Ser590Gly)
NM_003718.5(CDK13):c.3261A>T (p.Leu1087Phe) rs2150547167
NM_003718.5(CDK13):c.3686C>T (p.Ser1229Leu)
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_003803.4(MYOM1):c.3881T>C (p.Ile1294Thr)
NM_003803.4(MYOM1):c.4920C>G (p.Asp1640Glu)
NM_003922.4(HERC1):c.6314C>G (p.Thr2105Ser)
NM_003922.4(HERC1):c.9134C>T (p.Ala3045Val)
NM_003998.4(NFKB1):c.731A>G (p.Lys244Arg) rs2149187183
NM_004006.3(DMD):c.3607G>A (p.Ala1203Thr) rs1569562950
NM_004006.3(DMD):c.4180G>T (p.Ala1394Ser)
NM_004006.3(DMD):c.4832T>A (p.Val1611Asp) rs2147469937
NM_004006.3(DMD):c.5386C>A (p.Pro1796Thr)
NM_004006.3(DMD):c.5582T>C (p.Leu1861Pro) rs2147030312
NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln) rs1556320083
NM_004092.4(ECHS1):c.299T>C (p.Ile100Thr)
NM_004136.4(IREB2):c.1329_1331del (p.Ser444del) rs1596009225
NM_004136.4(IREB2):c.2353G>A (p.Gly785Arg) rs1596016998
NM_004172.5(SLC1A3):c.299T>C (p.Ile100Thr)
NM_004187.5(KDM5C):c.189C>A (p.Phe63Leu)
NM_004187.5(KDM5C):c.359T>C (p.Val120Ala) rs2146951019
NM_004187.5(KDM5C):c.3961C>A (p.Pro1321Thr)
NM_004187.5(KDM5C):c.917C>T (p.Thr306Ile)
NM_004208.4(AIFM1):c.649C>G (p.Leu217Val)
NM_004218.4(RAB11B):c.491C>G (p.Ala164Gly)
NM_004237.4(TRIP13):c.1016T>C (p.Met339Thr)
NM_004237.4(TRIP13):c.759+1G>T
NM_004247.4(EFTUD2):c.1033G>A (p.Gly345Ser)
NM_004247.4(EFTUD2):c.1585C>T (p.Arg529Cys) rs376157050
NM_004260.4(RECQL4):c.488C>G (p.Pro163Arg)
NM_004279.3(PMPCB):c.122G>A (p.Arg41Lys)
NM_004333.6(BRAF):c.160A>G (p.Ile54Val)
NM_004333.6(BRAF):c.1714A>G (p.Ile572Val) rs755214031
NM_004341.5(CAD):c.4231A>G (p.Lys1411Glu)
NM_004341.5(CAD):c.5104C>T (p.Pro1702Ser) rs529298259
NM_004360.5(CDH1):c.1320G>A (p.Lys440=)
NM_004369.4(COL6A3):c.4129G>T (p.Glu1377Ter)
NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala)
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
NM_004380.3(CREBBP):c.3163G>T (p.Val1055Leu)
NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn)
NM_004380.3(CREBBP):c.5804C>T (p.Thr1935Ile) rs2151308115
NM_004380.3(CREBBP):c.6557A>T (p.Asn2186Ile) rs1358192617
NM_004385.5(VCAN):c.2381G>C (p.Ser794Thr) rs2112409816
NM_004393.6(DAG1):c.2503_2504del (p.Ser835fs) rs2107957043
NM_004393.6(DAG1):c.568G>C (p.Val190Leu)
NM_004397.6(DDX6):c.1394A>T (p.Asp465Val) rs2137411793
NM_004408.4(DNM1):c.2510A>C (p.Asn837Thr)
NM_004431.5(EPHA2):c.1886A>G (p.Lys629Arg)
NM_004434.3(EML1):c.2272G>A (p.Asp758Asn)
NM_004434.3(EML1):c.941A>G (p.Asn314Ser)
NM_004444.5(EPHB4):c.1362G>C (p.Trp454Cys) rs2116447376
NM_004444.5(EPHB4):c.853T>C (p.Cys285Arg)
NM_004444.5(EPHB4):c.964+3A>T
NM_004446.3(EPRS1):c.2747G>A (p.Arg916Gln) rs761131320
NM_004446.3(EPRS1):c.3404A>C (p.Gln1135Pro)
NM_004456.5(EZH2):c.532C>G (p.Leu178Val)
NM_004462.5(FDFT1):c.100-101G>A
NM_004463.3(FGD1):c.2282G>A (p.Cys761Tyr) rs2147422996
NM_004484.4(GPC3):c.695C>A (p.Ala232Asp) rs1206002281
NM_004522.3(KIF5C):c.2640G>C (p.Glu880Asp)
NM_004523.4(KIF11):c.1559A>G (p.Lys520Arg) rs2135916166
NM_004544.4(NDUFA10):c.1000-12427TCCCTCCTTGAAGCTGATCGT[2]
NM_004562.3(PRKN):c.488G>A (p.Arg163Lys)
NM_004589.4(SCO1):c.220C>T (p.Pro74Ser)
NM_004606.5(TAF1):c.4108-5C>T rs2148485195
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr) rs1602463196
NM_004612.4(TGFBR1):c.1442C>T (p.Ala481Val)
NM_004612.4(TGFBR1):c.569G>T (p.Gly190Val) rs2118632040
NM_004612.4(TGFBR1):c.98-1G>A
NM_004618.5(TOP3A):c.2228C>G (p.Thr743Ser)
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
NM_004646.4(NPHS1):c.162_176del (p.Val55_Gly59del)
NM_004646.4(NPHS1):c.2072-6C>G rs200253809
NM_004646.4(NPHS1):c.3058G>A (p.Gly1020Arg)
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln) rs34982899
NM_004667.6(HERC2):c.599C>T (p.Ala200Val)
NM_004667.6(HERC2):c.9113A>G (p.Gln3038Arg)
NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg)
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
NM_004722.4(AP4M1):c.589_603dup (p.Ser201_Asn202insValLeuIleAlaSer)
NM_004758.4(TSPOAP1):c.1942G>T (p.Gly648Cys) rs2143077017
NM_004793.4(LONP1):c.1913C>T (p.Thr638Met) rs757666530
NM_004813.4(PEX16):c.714G>C (p.Trp238Cys)
NM_004817.4(TJP2):c.2667+3A>G
NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser) rs866726564
NM_004859.4(CLTC):c.2590G>A (p.Ala864Thr)
NM_004859.4(CLTC):c.4605+3T>A
NM_004924.6(ACTN4):c.770T>G (p.Ile257Arg)
NM_004928.3(CFAP410):c.331_342dup (p.Thr114_Leu115insValLeuArgThr)
NM_004958.4(MTOR):c.1060T>A (p.Ser354Thr)
NM_004958.4(MTOR):c.1951G>C (p.Val651Leu)
NM_004958.4(MTOR):c.5062C>T (p.Pro1688Ser) rs2100477232
NM_004958.4(MTOR):c.7253T>C (p.Leu2418Pro)
NM_004958.4(MTOR):c.7534G>C (p.Asp2512His)
NM_004974.4(KCNA2):c.329C>T (p.Ser110Phe) rs1649507829
NM_004975.4(KCNB1):c.1801G>A (p.Ala601Thr)
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_004984.4(KIF5A):c.2175G>C (p.Gln725His)
NM_004991.4(MECOM):c.2577+4A>T
NM_004991.4(MECOM):c.2873_2875del (p.Phe958_Ser959delinsCys) rs2148891166
NM_004991.4(MECOM):c.2889C>G (p.Asn963Lys)
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) rs35263902
NM_005002.5(NDUFA9):c.50G>T (p.Arg17Leu)
NM_005006.7(NDUFS1):c.134C>A (p.Pro45Gln)
NM_005032.7(PLS3):c.347G>A (p.Gly116Glu) rs2147533013
NM_005052.3(RAC3):c.179G>A (p.Gly60Asp)
NM_005085.4(NUP214):c.929T>C (p.Ile310Thr)
NM_005120.3(MED12):c.272G>A (p.Arg91His) rs1057524478
NM_005120.3(MED12):c.4492G>A (p.Gly1498Arg) rs2147817009
NM_005121.3(MED13):c.3583C>A (p.Gln1195Lys)
NM_005159.5(ACTC1):c.509G>A (p.Gly170Asp)
NM_005159.5(ACTC1):c.967G>T (p.Ala323Ser) rs771011464
NM_005188.4(CBL):c.1135C>A (p.Gln379Lys) rs2135303660
NM_005245.4(FAT1):c.10486G>A (p.Val3496Ile) rs1436843901
NM_005245.4(FAT1):c.3011A>G (p.Lys1004Arg) rs2126683307
NM_005247.4(FGF3):c.325-2A>G
NM_005257.6(GATA6):c.1300G>C (p.Val434Leu)
NM_005257.6(GATA6):c.1342C>T (p.His448Tyr)
NM_005260.7(GDF9):c.604C>T (p.Gln202Ter)
NM_005262.3(GFER):c.258+1G>A
NM_005273.4(GNB2):c.784C>T (p.Leu262Phe)
NM_005334.3(HCFC1):c.1583C>T (p.Pro528Leu) rs2148586729
NM_005359.6(SMAD4):c.293T>G (p.Leu98Arg)
NM_005360.5(MAF):c.712G>T (p.Gly238Cys)
NM_005378.6(MYCN):c.-84G>T
NM_005378.6(MYCN):c.1060G>T (p.Ala354Ser)
NM_005422.4(TECTA):c.1796G>C (p.Ser599Thr) rs762612501
NM_005445.4(SMC3):c.2653A>C (p.Asn885His)
NM_005458.8(GABBR2):c.1987T>G (p.Tyr663Asp)
NM_005491.5(MAMLD1):c.*159T>C
NM_005515.4(MNX1):c.852G>A (p.Gln284=)
NM_005518.4(HMGCS2):c.1092C>G (p.Phe364Leu)
NM_005543.4(INSL3):c.191G>T (p.Arg64Leu)
NM_005554.4(KRT6A):c.817-2A>G
NM_005559.4(LAMA1):c.4024G>C (p.Val1342Leu) rs2144110328
NM_005559.4(LAMA1):c.7603G>A (p.Gly2535Ser)
NM_005559.4(LAMA1):c.9160T>C (p.Phe3054Leu)
NM_005585.5(SMAD6):c.262G>T (p.Gly88Cys) rs887913905
NM_005585.5(SMAD6):c.802C>T (p.Arg268Trp)
NM_005609.4(PYGM):c.1264G>A (p.Asp422Asn)
NM_005618.4(DLL1):c.614G>C (p.Gly205Ala)
NM_005633.4(SOS1):c.1393_1394delinsTT (p.Asp465Phe)
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005634.3(SOX3):c.253A>C (p.Lys85Gln)
NM_005654.6(NR2F1):c.344G>T (p.Arg115Leu)
NM_005654.6(NR2F1):c.49G>C (p.Gly17Arg)
NM_005708.5(GPC6):c.1228G>A (p.Glu410Lys)
NM_005751.5(AKAP9):c.10979T>G (p.Leu3660Trp) rs1263587542
NM_005765.3(ATP6AP2):c.1028C>G (p.Thr343Arg) rs2146547270
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn) rs1450455949
NM_005787.6(ALG3):c.503T>C (p.Phe168Ser)
NM_005802.5(TOPORS):c.2866G>C (p.Glu956Gln)
NM_005862.3(STAG1):c.2547G>C (p.Glu849Asp)
NM_005883.3(APC2):c.322_323inv (p.Ser108Leu)
NM_005883.3(APC2):c.4531G>A (p.Gly1511Ser)
NM_005901.6(SMAD2):c.1384C>T (p.Arg462Cys) rs2144276135
NM_005902.4(SMAD3):c.1180T>C (p.Cys394Arg)
NM_005902.4(SMAD3):c.207-26806G>T
NM_005909.5(MAP1B):c.3967C>T (p.Pro1323Ser) rs2112238960
NM_005909.5(MAP1B):c.6169_6171delinsAAG (p.Tyr2057Lys) rs2111892866
NM_005957.5(MTHFR):c.1796A>G (p.Tyr599Cys) rs2100495013
NM_005993.5(TBCD):c.10A>T (p.Ser4Cys)
NM_005993.5(TBCD):c.1399G>A (p.Ala467Thr) rs1567926154
NM_005993.5(TBCD):c.2560G>A (p.Gly854Ser)
NM_005993.5(TBCD):c.3194A>G (p.His1065Arg) rs2062710087
NM_006009.4(TUBA1A):c.889G>A (p.Glu297Lys)
NM_006015.6(ARID1A):c.1350+1G>T
NM_006073.4(TRDN):c.1048A>G (p.Lys350Glu)
NM_006073.4(TRDN):c.2146T>C (p.Ser716Pro)
NM_006079.5(CITED2):c.119AGC[3] (p.Gln43del)
NM_006121.4(KRT1):c.1318G>A (p.Ala440Thr)
NM_006121.4(KRT1):c.48_49insAC (p.Phe17fs)
NM_006160.4(NEUROD2):c.355T>C (p.Ser119Pro)
NM_006160.4(NEUROD2):c.517C>A (p.Leu173Ile)
NM_006178.4(NSF):c.1590_1592dup (p.Ser531_Asp532insSer) rs2146261671
NM_006180.6(NTRK2):c.1438G>A (p.Gly480Ser)
NM_006218.4(PIK3CA):c.2137A>G (p.Ile713Val)
NM_006218.4(PIK3CA):c.2T>C (p.Met1Thr)
NM_006231.4(POLE):c.2666C>G (p.Thr889Ser)
NM_006267.5(RANBP2):c.3766C>G (p.Pro1256Ala)
NM_006270.5(RRAS):c.43C>T (p.Arg15Trp)
NM_006280.3(SSR4):c.429C>A (p.Asn143Lys)
NM_006280.3(SSR4):c.482A>G (p.Tyr161Cys)
NM_006302.3(MOGS):c.1225G>A (p.Gly409Arg)
NM_006306.4(SMC1A):c.1118A>G (p.Lys373Arg) rs2146604633
NM_006314.3(CNKSR1):c.503G>T (p.Gly168Val)
NM_006421.5(ARFGEF1):c.5194C>T (p.Arg1732Cys) rs1563832518
NM_006517.5(SLC16A2):c.1390C>A (p.Pro464Thr)
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006565.4(CTCF):c.1111C>T (p.Arg371Cys)
NM_006565.4(CTCF):c.2089G>T (p.Ala697Ser)
NM_006586.5(CNPY3):c.592G>A (p.Val198Met)
NM_006623.4(PHGDH):c.1210-2A>G rs2101224430
NM_006662.3(SRCAP):c.1693G>A (p.Asp565Asn) rs2151288555
NM_006715.4(MAN2C1):c.2702G>A (p.Arg901His)
NM_006734.4(HIVEP2):c.2380CCT[1] (p.Pro795del)
NM_006734.4(HIVEP2):c.3956C>T (p.Ala1319Val)
NM_006734.4(HIVEP2):c.4545CTC[1] (p.Ser1517del)
NM_006734.4(HIVEP2):c.4578_4579delinsCA (p.Pro1527Thr) rs2114645755
NM_006767.4(LZTR1):c.1667G>A (p.Ser556Asn)
NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg) rs1924752851
NM_006767.4(LZTR1):c.2325G>T (p.Gln775His)
NM_006772.3(SYNGAP1):c.3961C>T (p.Pro1321Ser)
NM_006772.3(SYNGAP1):c.3983G>A (p.Arg1328Gln)
NM_006885.4(ZFHX3):c.5767C>T (p.Pro1923Ser)
NM_006885.4(ZFHX3):c.9643_9657del (p.Ala3215_Pro3219del)
NM_006908.5(RAC1):c.409A>G (p.Ile137Val) rs770760146
NM_006914.4(RORB):c.945C>A (p.Asn315Lys) rs2118526044
NM_006922.4(SCN3A):c.4484C>T (p.Ala1495Val)
NM_006922.4(SCN3A):c.4811T>C (p.Met1604Thr) rs1685095084
NM_006939.4(SOS2):c.1223A>T (p.His408Leu) rs2139630118
NM_006939.4(SOS2):c.2002A>T (p.Ile668Phe)
NM_006939.4(SOS2):c.866C>T (p.Ala289Val)
NM_006940.6(SOX5):c.914G>A (p.Ser305Asn)
NM_006940.6(SOX5):c.988A>G (p.Thr330Ala) rs1224542564
NM_007059.4(KPTN):c.1000-4G>A
NM_007059.4(KPTN):c.992A>G (p.Tyr331Cys)
NM_007103.4(NDUFV1):c.455G>A (p.Arg152His)
NM_007118.4(TRIO):c.2541C>G (p.His847Gln) rs1744368530
NM_007118.4(TRIO):c.2714A>C (p.Gln905Pro) rs2152341262
NM_007118.4(TRIO):c.4103A>G (p.Asp1368Gly) rs2152363791
NM_007118.4(TRIO):c.5947G>A (p.Asp1983Asn)
NM_007118.4(TRIO):c.6153+4A>G rs2126581436
NM_007118.4(TRIO):c.6374C>T (p.Thr2125Ile) rs1425641656
NM_007118.4(TRIO):c.6661A>G (p.Ser2221Gly)
NM_007118.4(TRIO):c.6818A>G (p.Gln2273Arg)
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr) rs1828723406
NM_007129.5(ZIC2):c.718_720del (p.Pro240del) rs957547266
NM_007129.5(ZIC2):c.800G>A (p.Ser267Asn)
NM_007198.4(PLPBP):c.88C>G (p.Arg30Gly)
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_012086.5(GTF3C3):c.1420C>T (p.Arg474Ter) rs1019988331
NM_012123.4(MTO1):c.2072_2073del (p.Glu691fs) rs759445569
NM_012144.4(DNAI1):c.1724C>T (p.Pro575Leu)
NM_012199.5(AGO1):c.1217T>C (p.Val406Ala) rs2148715621
NM_012208.4(HARS2):c.1450_1451delinsC (p.Ser484fs)
NM_012301.4(MAGI2):c.3919A>C (p.Lys1307Gln)
NM_012309.5(SHANK2):c.2308+1G>A rs2135811944
NM_012330.4(KAT6B):c.1527G>C (p.Lys509Asn)
NM_012338.4(TSPAN12):c.214T>C (p.Cys72Arg) rs2116466534
NM_012414.4(RAB3GAP2):c.1434G>C (p.Trp478Cys)
NM_012414.4(RAB3GAP2):c.3179C>T (p.Thr1060Met)
NM_012414.4(RAB3GAP2):c.574A>G (p.Thr192Ala)
NM_012418.4(FSCN2):c.1106-25G>A
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr) rs2135923855
NM_012464.5(TLL1):c.1729G>A (p.Glu577Lys)
NM_012464.5(TLL1):c.3015T>A (p.Tyr1005Ter)
NM_012470.4(TNPO3):c.470G>A (p.Arg157His)
NM_013266.4(CTNNA3):c.639G>C (p.Glu213Asp)
NM_013266.4(CTNNA3):c.92T>A (p.Ile31Lys)
NM_013275.6(ANKRD11):c.1214G>A (p.Arg405His)
NM_013275.6(ANKRD11):c.1468G>A (p.Glu490Lys) rs2151764245
NM_013275.6(ANKRD11):c.2372A>G (p.Lys791Arg)
NM_013275.6(ANKRD11):c.2420T>C (p.Val807Ala)
NM_013275.6(ANKRD11):c.2462A>T (p.Asn821Ile)
NM_013275.6(ANKRD11):c.25G>A (p.Ala9Thr)
NM_013275.6(ANKRD11):c.2766G>C (p.Glu922Asp)
NM_013275.6(ANKRD11):c.3621G>C (p.Glu1207Asp) rs2034382319
NM_013275.6(ANKRD11):c.3796A>C (p.Lys1266Gln)
NM_013275.6(ANKRD11):c.4001C>G (p.Pro1334Arg)
NM_013275.6(ANKRD11):c.5534G>T (p.Cys1845Phe) rs1305421290
NM_013275.6(ANKRD11):c.5540C>T (p.Ser1847Leu)
NM_013275.6(ANKRD11):c.602-4C>T
NM_013275.6(ANKRD11):c.7470+5G>T rs1555524784
NM_013275.6(ANKRD11):c.990G>C (p.Lys330Asn)
NM_013432.5(TONSL):c.3809+36G>A
NM_013436.5(NCKAP1):c.2273A>G (p.Gln758Arg)
NM_013444.4(UBQLN2):c.1003A>T (p.Thr335Ser)
NM_013450.4(BAZ2B):c.4213+1G>A
NM_013450.4(BAZ2B):c.6210-3T>C
NM_014000.3(VCL):c.2119G>A (p.Glu707Lys)
NM_014000.3(VCL):c.2569G>A (p.Glu857Lys)
NM_014000.3(VCL):c.3250T>C (p.Ser1084Pro)
NM_014008.5(CCDC22):c.319C>T (p.Arg107Cys)
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_014009.4(FOXP3):c.967+4A>G rs1426535368
NM_014023.4(WDR37):c.850G>T (p.Val284Phe) rs2131662062
NM_014112.5(TRPS1):c.1976AAG[1] (p.Glu660del)
NM_014159.7(SETD2):c.1261A>T (p.Arg421Trp)
NM_014159.7(SETD2):c.1417A>G (p.Thr473Ala)
NM_014159.7(SETD2):c.2009A>C (p.Glu670Ala)
NM_014159.7(SETD2):c.358A>T (p.Ile120Phe)
NM_014159.7(SETD2):c.5128C>T (p.Arg1710Cys) rs2107674100
NM_014239.4(EIF2B2):c.1A>G (p.Met1Val)
NM_014254.3(RXYLT1):c.539G>T (p.Trp180Leu)
NM_014297.5(ETHE1):c.236A>T (p.His79Leu)
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
NM_014423.4(AFF4):c.2678C>T (p.Ala893Val)
NM_014423.4(AFF4):c.2702C>T (p.Pro901Leu) rs2150067444
NM_014467.3(SRPX2):c.49C>G (p.Leu17Val) rs1422524189
NM_014489.4(PGAP2):c.657C>T (p.Leu219=)
NM_014491.4(FOXP2):c.258+36173G>A rs747951230
NM_014515.7(CNOT2):c.1481A>G (p.Tyr494Cys)
NM_014516.4(CNOT3):c.943C>G (p.Gln315Glu)
NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser) rs1040479346
NM_014625.4(NPHS2):c.138G>A (p.Ser46=) rs1053139144
NM_014639.4(SKIC3):c.1507T>C (p.Tyr503His)
NM_014694.4(ADAMTSL2):c.1321G>A (p.Glu441Lys)
NM_014698.3(TMEM63A):c.2009A>G (p.Gln670Arg) rs2102815944
NM_014704.4(CEP104):c.1264G>A (p.Glu422Lys)
NM_014704.4(CEP104):c.2503+1G>A
NM_014727.3(KMT2B):c.1102A>C (p.Lys368Gln)
NM_014727.3(KMT2B):c.3370C>T (p.Pro1124Ser)
NM_014795.4(ZEB2):c.1969T>C (p.Ser657Pro)
NM_014795.4(ZEB2):c.3539G>A (p.Arg1180Gln)
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800
NM_014875.3(KIF14):c.1979+2C>T
NM_014875.3(KIF14):c.4353+7T>A
NM_014905.5(GLS):c.7C>T (p.Arg3Trp)
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro) rs1558331867
NM_014946.4(SPAST):c.1613C>A (p.Ala538Asp)
NM_014967.5(FAN1):c.93T>G (p.Ile31Met) rs781134478
NM_014975.3(MAST1):c.865C>G (p.Leu289Val)
NM_014989.7(RIMS1):c.1679-20589C>T
NM_014991.6(WDFY3):c.3473T>G (p.Leu1158Arg) rs2149575345
NM_014991.6(WDFY3):c.4518+7A>G
NM_014991.6(WDFY3):c.7189G>T (p.Val2397Leu)
NM_014991.6(WDFY3):c.7324A>C (p.Met2442Leu)
NM_014994.3(MAPKBP1):c.1426A>G (p.Ile476Val)
NM_015001.3(SPEN):c.9361C>T (p.Arg3121Trp)
NM_015021.3(ZNF292):c.1262A>G (p.Asn421Ser)
NM_015021.3(ZNF292):c.1618T>C (p.Tyr540His)
NM_015021.3(ZNF292):c.3064G>C (p.Glu1022Gln)
NM_015021.3(ZNF292):c.5584C>A (p.Leu1862Met)
NM_015047.3(EMC1):c.2048G>A (p.Gly683Glu) rs2151947387
NM_015047.3(EMC1):c.698C>T (p.Ala233Val)
NM_015047.3(EMC1):c.820C>T (p.Pro274Ser)
NM_015100.4(POGZ):c.3749C>G (p.Pro1250Arg)
NM_015102.5(NPHP4):c.1503+2dup
NM_015107.3(PHF8):c.1577A>G (p.Asp526Gly)
NM_015107.3(PHF8):c.2318G>C (p.Arg773Pro)
NM_015107.3(PHF8):c.2492G>A (p.Arg831Gln) rs2149796421
NM_015166.4(MLC1):c.714+5G>A
NM_015178.3(RHOBTB2):c.1216A>G (p.Thr406Ala) rs2128804901
NM_015215.4(CAMTA1):c.1514C>G (p.Ala505Gly)
NM_015267.4(CUX2):c.1571C>T (p.Ala524Val)
NM_015267.4(CUX2):c.1945G>A (p.Asp649Asn)
NM_015267.4(CUX2):c.223-1G>A
NM_015335.5(MED13L):c.2013-1G>T
NM_015335.5(MED13L):c.2635C>G (p.Pro879Ala) rs2137330781
NM_015335.5(MED13L):c.404T>C (p.Met135Thr) rs752482619
NM_015335.5(MED13L):c.4694C>T (p.Thr1565Ile)
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015338.6(ASXL1):c.1610A>G (p.Glu537Gly) rs2123268579
NM_015338.6(ASXL1):c.1693G>C (p.Glu565Gln) rs2123271125
NM_015338.6(ASXL1):c.2309C>T (p.Ser770Leu)
NM_015338.6(ASXL1):c.4136A>C (p.Lys1379Thr)
NM_015346.4(ZFYVE26):c.2339G>A (p.Arg780Gln)
NM_015346.4(ZFYVE26):c.5431C>T (p.Pro1811Ser) rs1012956419
NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)
NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)
NM_015378.4(VPS13D):c.2225C>T (p.Thr742Met)
NM_015378.4(VPS13D):c.3106C>T (p.Arg1036Trp)
NM_015378.4(VPS13D):c.3107G>A (p.Arg1036Gln)
NM_015426.5(POC1A):c.176G>A (p.Gly59Asp)
NM_015466.4(PTPN23):c.2977C>T (p.Pro993Ser)
NM_015466.4(PTPN23):c.2977_2988delinsTT (p.Pro993fs) rs1705261820
NM_015466.4(PTPN23):c.2978C>T (p.Pro993Leu)
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
NM_015557.3(CHD5):c.3680G>C (p.Gly1227Ala) rs1557544846
NM_015557.3(CHD5):c.4990G>A (p.Glu1664Lys)
NM_015559.3(SETBP1):c.4666A>C (p.Lys1556Gln)
NM_015570.4(AUTS2):c.1771C>T (p.Pro591Ser) rs778369039
NM_015570.4(AUTS2):c.2153C>T (p.Ala718Val)
NM_015570.4(AUTS2):c.2609G>A (p.Arg870His)
NM_015570.4(AUTS2):c.293C>G (p.Thr98Ser)
NM_015629.4(PRPF31):c.89C>T (p.Pro30Leu)
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr) rs2139767280
NM_015662.3(IFT172):c.2308A>C (p.Ile770Leu)
NM_015662.3(IFT172):c.786-2A>T
NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)
NM_015874.6(RBPJ):c.140A>G (p.Tyr47Cys)
NM_015896.4(ZMYND10):c.373-1G>A
NM_015981.4(CAMK2A):c.271C>T (p.Leu91=)
NM_016008.4(DYNC2LI1):c.127-8A>G
NM_016008.4(DYNC2LI1):c.764T>C (p.Leu255Pro)
NM_016030.6(TRAPPC12):c.1778T>G (p.Ile593Ser) rs1666353803
NM_016030.6(TRAPPC12):c.361G>A (p.Glu121Lys)
NM_016032.4(ZDHHC9):c.601T>C (p.Phe201Leu) rs2124105600
NM_016120.4(RLIM):c.74G>T (p.Arg25Leu)
NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)
NM_016284.5(CNOT1):c.2035A>C (p.Asn679His)
NM_016284.5(CNOT1):c.3362C>T (p.Thr1121Met)
NM_016341.4(PLCE1):c.1207-43031G>A
NM_016341.4(PLCE1):c.3096+5G>A
NM_016417.3(GLRX5):c.115G>A (p.Gly39Ser)
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg) rs1858145836
NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)
NM_016580.4(PCDH12):c.1493G>A (p.Arg498His)
NM_016580.4(PCDH12):c.2374G>A (p.Gly792Arg)
NM_016630.7(SPG21):c.226-1G>A
NM_016648.4(LARP7):c.1669-1_1671del rs778909076
NM_016938.5(EFEMP2):c.732TGA[1] (p.Asp245del)
NM_017534.6(MYH2):c.2107G>A (p.Gly703Ser) rs2142307936
NM_017541.4(CRYGS):c.421G>T (p.Glu141Ter)
NM_017547.4(FOXRED1):c.1418G>A (p.Arg473His)
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser) rs1843316172
NM_017654.4(SAMD9):c.1504A>C (p.Ser502Arg) rs1328395107
NM_017654.4(SAMD9):c.200T>G (p.Ile67Arg)
NM_017654.4(SAMD9):c.3136G>A (p.Glu1046Lys)
NM_017654.4(SAMD9):c.4532T>C (p.Leu1511Ser)
NM_017668.3(NDE1):c.406G>A (p.Glu136Lys)
NM_017668.3(NDE1):c.777C>G (p.Asp259Glu)
NM_017739.4(POMGNT1):c.1648A>G (p.Ser550Gly) rs2148172085
NM_017780.4(CHD7):c.1546C>T (p.Pro516Ser)
NM_017780.4(CHD7):c.2398C>T (p.Pro800Ser)
NM_017780.4(CHD7):c.3347A>G (p.Lys1116Arg) rs750214154
NM_017780.4(CHD7):c.5893A>C (p.Lys1965Gln)
NM_017780.4(CHD7):c.6638C>G (p.Ser2213Cys)
NM_017780.4(CHD7):c.8286G>T (p.Gln2762His) rs758898311
NM_017780.4(CHD7):c.8470A>C (p.Thr2824Pro)
NM_017837.4(PIGV):c.974del (p.Val325fs)
NM_017934.7(PHIP):c.3326A>G (p.Asn1109Ser)
NM_017951.5(SMPD4):c.2374_2375del (p.Leu792fs)
NM_017951.5(SMPD4):c.812T>G (p.Leu271Arg)
NM_018026.4(PACS1):c.1129A>C (p.Asn377His)
NM_018055.5(NODAL):c.188C>A (p.Ala63Glu)
NM_018109.4(MTPAP):c.1283T>C (p.Ile428Thr)
NM_018109.4(MTPAP):c.1567C>T (p.Arg523Trp)
NM_018117.12(WDR11):c.2321C>T (p.Ala774Val)
NM_018117.12(WDR11):c.3665T>C (p.Ile1222Thr)
NM_018122.5(DARS2):c.1563G>T (p.Lys521Asn)
NM_018122.5(DARS2):c.1768T>G (p.Cys590Gly)
NM_018127.7(ELAC2):c.1033C>T (p.Pro345Ser)
NM_018136.5(ASPM):c.3232A>T (p.Ser1078Cys)
NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys)
NM_018136.5(ASPM):c.7937A>G (p.His2646Arg)
NM_018136.5(ASPM):c.8615C>T (p.Thr2872Met)
NM_018263.6(ASXL2):c.1388C>T (p.Pro463Leu)
NM_018263.6(ASXL2):c.938A>C (p.Gln313Pro)
NM_018489.3(ASH1L):c.2407T>G (p.Ser803Ala)
NM_018489.3(ASH1L):c.2951G>A (p.Arg984His)
NM_018489.3(ASH1L):c.3913C>T (p.His1305Tyr)
NM_018489.3(ASH1L):c.398A>G (p.Asn133Ser)
NM_018489.3(ASH1L):c.407G>C (p.Cys136Ser)
NM_018489.3(ASH1L):c.4484C>T (p.Ser1495Phe)
NM_018489.3(ASH1L):c.4546C>T (p.Arg1516Cys)
NM_018489.3(ASH1L):c.5260A>G (p.Ser1754Gly)
NM_018489.3(ASH1L):c.5285C>T (p.Pro1762Leu)
NM_018489.3(ASH1L):c.5369G>A (p.Cys1790Tyr)
NM_018489.3(ASH1L):c.6545G>C (p.Arg2182Thr) rs2148414951
NM_018669.6(WDR4):c.38C>T (p.Thr13Met)
NM_018684.4(ZC4H2):c.177G>T (p.Lys59Asn)
NM_018684.4(ZC4H2):c.406G>C (p.Glu136Gln) rs751880978
NM_018685.5(ANLN):c.3158G>A (p.Arg1053His)
NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala) rs2040529103
NM_018896.5(CACNA1G):c.3896A>G (p.Lys1299Arg)
NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp)
NM_018990.4(SASH3):c.442+3G>A rs2124081404
NM_019014.6(POLR1B):c.1231A>G (p.Met411Val)
NM_019042.5(PUS7):c.805A>G (p.Thr269Ala)
NM_019055.6(ROBO4):c.1678C>T (p.Arg560Cys)
NM_019055.6(ROBO4):c.1900C>T (p.Arg634Cys)
NM_020066.5(FMN2):c.1748A>C (p.Asn583Thr)
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020320.5(RARS2):c.1511+3A>G rs886061821
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
NM_020338.4(ZMIZ1):c.1021T>G (p.Ser341Ala)
NM_020338.4(ZMIZ1):c.1097G>T (p.Gly366Val)
NM_020340.5(ARFGEF3):c.4930C>T (p.Arg1644Ter)
NM_020366.4(RPGRIP1):c.840G>C (p.Lys280Asn)
NM_020366.4(RPGRIP1):c.94A>G (p.Met32Val) rs2139144559
NM_020366.4(RPGRIP1):c.953C>G (p.Ala318Gly)
NM_020433.5(JPH2):c.1417C>T (p.His473Tyr)
NM_020433.5(JPH2):c.373G>A (p.Asp125Asn)
NM_020433.5(JPH2):c.505G>A (p.Glu169Lys) rs2072600840
NM_020458.4(TTC7A):c.563G>A (p.Arg188His) rs147471840
NM_020461.4(TUBGCP6):c.5206G>A (p.Val1736Ile) rs762939715
NM_020702.5(MYORG):c.841T>C (p.Tyr281His)
NM_020706.2(SCAF4):c.415A>G (p.Ser139Gly)
NM_020717.5(SHROOM4):c.2440A>C (p.Met814Leu) rs1313449720
NM_020719.3(PRR12):c.5909T>C (p.Leu1970Pro) rs2122390232
NM_020738.4(KIDINS220):c.2294A>G (p.Asn765Ser)
NM_020738.4(KIDINS220):c.959A>G (p.Asp320Gly)
NM_020745.4(AARS2):c.1687A>T (p.Asn563Tyr) rs2153354521
NM_020751.3(COG6):c.623+1G>T
NM_020754.4(ARHGAP31):c.1487T>C (p.Leu496Pro)
NM_020754.4(ARHGAP31):c.3199A>G (p.Ser1067Gly)
NM_020774.4(MIB1):c.442G>A (p.Ala148Thr) rs369261422
NM_020778.5(ALPK3):c.1582C>T (p.Pro528Ser)
NM_020778.5(ALPK3):c.2284G>A (p.Gly762Arg)
NM_020778.5(ALPK3):c.277G>A (p.Asp93Asn)
NM_020778.5(ALPK3):c.3569C>T (p.Thr1190Met)
NM_020778.5(ALPK3):c.4130-4T>G
NM_020778.5(ALPK3):c.4291G>A (p.Gly1431Arg) rs750258262
NM_020778.5(ALPK3):c.5009G>A (p.Ser1670Asn)
NM_020778.5(ALPK3):c.5115del (p.Ter1706SerextTer?) rs753251432
NM_020778.5(ALPK3):c.831C>A (p.Asn277Lys)
NM_020779.4(WDR35):c.796A>G (p.Ser266Gly)
NM_020791.4(TAOK1):c.289C>T (p.Arg97Cys)
NM_020821.3(VPS13C):c.1304C>T (p.Thr435Ile)
NM_020821.3(VPS13C):c.7199A>G (p.Asn2400Ser)
NM_020822.3(KCNT1):c.2330G>C (p.Cys777Ser)
NM_020829.4(RIC1):c.1367G>A (p.Arg456Gln)
NM_020919.4(ALS2):c.176A>T (p.Asp59Val)
NM_020928.2(ZSWIM6):c.2248G>A (p.Gly750Arg)
NM_020971.3(SPTBN4):c.4862T>A (p.Phe1621Tyr)
NM_021005.4(NR2F2):c.418C>T (p.Leu140Phe)
NM_021044.4(DHH):c.434G>C (p.Arg145Pro)
NM_021072.4(HCN1):c.1139T>A (p.Ile380Asn)
NM_021076.4(NEFH):c.1095del (p.Gln365fs)
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer) rs1555513044
NM_021098.3(CACNA1H):c.4717C>T (p.Arg1573Ter) rs1567543511
NM_021120.4(DLG3):c.127G>A (p.Gly43Arg)
NM_021120.4(DLG3):c.1302G>A (p.Ser434=) rs1555961898
NM_021120.4(DLG3):c.575C>T (p.Ser192Leu)
NM_021224.6(ZNF462):c.2966C>T (p.Ala989Val)
NM_021224.6(ZNF462):c.4885C>T (p.Pro1629Ser) rs2131506841
NM_021224.6(ZNF462):c.6227C>T (p.Ala2076Val)
NM_021628.3(ALOXE3):c.1562+4_1562+5insCACCTCT rs2151837897
NM_021629.4(GNB4):c.834C>A (p.Phe278Leu)
NM_021729.6(VPS11):c.190A>C (p.Met64Leu)
NM_021729.6(VPS11):c.2440C>T (p.Pro814Ser)
NM_021814.5(ELOVL5):c.246+3859C>G
NM_021939.4(FKBP10):c.385G>A (p.Gly129Ser)
NM_022095.4(ZNF335):c.2047T>C (p.Cys683Arg)
NM_022095.4(ZNF335):c.2062C>T (p.Arg688Trp)
NM_022114.4(PRDM16):c.2804C>T (p.Pro935Leu) rs2100676170
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn) rs752442832
NM_022455.5(NSD1):c.4946C>G (p.Ala1649Gly)
NM_022455.5(NSD1):c.5789G>A (p.Arg1930His) rs1391504793
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs) rs753327806
NM_022489.4(INF2):c.607G>A (p.Ala203Thr) rs1213058223
NM_022552.5(DNMT3A):c.148C>T (p.Arg50Trp)
NM_022552.5(DNMT3A):c.2411C>A (p.Pro804Gln) rs750597155
NM_022552.5(DNMT3A):c.460A>G (p.Lys154Glu)
NM_022552.5(DNMT3A):c.640-3826_640-3798del
NM_022893.4(BCL11A):c.1589G>T (p.Arg530Leu)
NM_022893.4(BCL11A):c.91C>G (p.Pro31Ala)
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) rs778575439
NM_024334.3(TMEM43):c.47A>G (p.Lys16Arg) rs770619613
NM_024334.3(TMEM43):c.482T>G (p.Phe161Cys)
NM_024334.3(TMEM43):c.670T>C (p.Phe224Leu) rs1695146244
NM_024334.3(TMEM43):c.844A>G (p.Thr282Ala)
NM_024408.4(NOTCH2):c.2365G>A (p.Gly789Ser) rs2101122120
NM_024408.4(NOTCH2):c.2560T>C (p.Phe854Leu) rs1650363387
NM_024408.4(NOTCH2):c.3661C>A (p.Leu1221Ile)
NM_024408.4(NOTCH2):c.4019C>T (p.Ala1340Val) rs1649454489
NM_024408.4(NOTCH2):c.6924G>C (p.Gln2308His)
NM_024411.5(PDYN):c.630C>G (p.Phe210Leu)
NM_024417.5(FDXR):c.623C>T (p.Thr208Met)
NM_024496.4(IRF2BPL):c.109G>A (p.Gly37Ser)
NM_024496.4(IRF2BPL):c.1262T>G (p.Ile421Ser)
NM_024496.4(IRF2BPL):c.1704G>C (p.Gln568His)
NM_024496.4(IRF2BPL):c.1829C>G (p.Thr610Ser)
NM_024496.4(IRF2BPL):c.2003G>A (p.Gly668Glu)
NM_024537.4(CARS2):c.465+3A>G
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg)
NM_024596.5(MCPH1):c.1935+6T>C
NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe)
NM_024665.7(TBL1XR1):c.1007T>C (p.Leu336Ser)
NM_024665.7(TBL1XR1):c.472C>A (p.Pro158Thr)
NM_024715.4(TXNDC15):c.304G>C (p.Glu102Gln)
NM_024721.5(ZFHX4):c.118C>T (p.Pro40Ser)
NM_024757.5(EHMT1):c.1845A>T (p.Lys615Asn)
NM_024757.5(EHMT1):c.2132T>C (p.Leu711Pro) rs2136712318
NM_024757.5(EHMT1):c.2505G>A (p.Lys835=)
NM_024757.5(EHMT1):c.3725_3726del (p.Tyr1242fs)
NM_024757.5(EHMT1):c.580C>T (p.Pro194Ser)
NM_024817.3(THSD4):c.650A>G (p.Gln217Arg) rs748660152
NM_024884.3(L2HGDH):c.1031G>A (p.Ser344Asn)
NM_025099.6(CTC1):c.1535A>T (p.Asp512Val)
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025114.4(CEP290):c.2288T>C (p.Ile763Thr)
NM_025137.4(SPG11):c.1906C>G (p.Leu636Val) rs145316065
NM_025137.4(SPG11):c.3037_3038+8del
NM_025137.4(SPG11):c.3074A>T (p.Lys1025Ile) rs1567163203
NM_025150.5(TARS2):c.1312C>G (p.Arg438Gly)
NM_030632.3(ASXL3):c.3433T>C (p.Ser1145Pro)
NM_030653.4(DDX11):c.1180G>A (p.Glu394Lys)
NM_030653.4(DDX11):c.877C>T (p.His293Tyr)
NM_030665.4(RAI1):c.1658T>C (p.Val553Ala)
NM_030665.4(RAI1):c.4415C>G (p.Ala1472Gly)
NM_030777.4(SLC2A10):c.851C>A (p.Thr284Asn) rs765689972
NM_030948.6(PHACTR1):c.1454A>G (p.Asn485Ser) rs2127468177
NM_031206.7(LAS1L):c.1285G>A (p.Ala429Thr)
NM_031206.7(LAS1L):c.1571C>A (p.Pro524His)
NM_031206.7(LAS1L):c.1613G>A (p.Ser538Asn)
NM_031206.7(LAS1L):c.663C>A (p.Asp221Glu) rs778389447
NM_031407.7(HUWE1):c.11501A>G (p.Glu3834Gly)
NM_031407.7(HUWE1):c.11591T>C (p.Leu3864Pro)
NM_031407.7(HUWE1):c.120G>C (p.Gln40His)
NM_031407.7(HUWE1):c.12865G>A (p.Asp4289Asn)
NM_031407.7(HUWE1):c.1779+5G>A rs2148854427
NM_031407.7(HUWE1):c.1826G>T (p.Ser609Ile)
NM_031407.7(HUWE1):c.5228G>A (p.Gly1743Glu)
NM_031407.7(HUWE1):c.5915T>G (p.Met1972Arg)
NM_031407.7(HUWE1):c.7598G>A (p.Gly2533Asp)
NM_031418.4(ANO3):c.2306T>C (p.Val769Ala)
NM_031475.2(ESPN):c.2339_2341delAGG rs1399633263
NM_031844.3(HNRNPU):c.1028A>G (p.Lys343Arg)
NM_031844.3(HNRNPU):c.325G>C (p.Glu109Gln)
NM_031844.3(HNRNPU):c.421G>A (p.Gly141Arg)
NM_031885.5(BBS2):c.1690G>T (p.Ala564Ser)
NM_032188.3(KAT8):c.725G>C (p.Arg242Pro) rs2057547080
NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly)
NM_032217.5(ANKRD17):c.7729A>C (p.Thr2577Pro)
NM_032237.5(POMK):c.352G>T (p.Asp118Tyr)
NM_032271.3(TRAF7):c.1135+7A>G rs2141290647
NM_032357.4(CCDC115):c.305G>A (p.Arg102Gln)
NM_032380.5(GFM2):c.1758G>C (p.Arg586Ser)
NM_032382.5(COG8):c.1643T>C (p.Ile548Thr)
NM_032382.5(COG8):c.888_890del (p.Glu296del)
NM_032409.3(PINK1):c.898C>T (p.Pro300Ser) rs2154533833
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser) rs199592185
NM_032536.4(NTNG2):c.964A>C (p.Asn322His)
NM_032588.4(TRIM63):c.1051+1G>A
NM_032588.4(TRIM63):c.427T>C (p.Ser143Pro) rs1359846866
NM_032634.4(PIGO):c.1297C>T (p.Arg433Trp)
NM_032776.3(JMJD1C):c.2219T>C (p.Leu740Pro) rs2133216478
NM_032793.5(MFSD2A):c.1394G>A (p.Arg465His)
NM_032793.5(MFSD2A):c.228+8G>A
NM_033087.4(ALG2):c.292G>A (p.Ala98Thr)
NM_033453.4(ITPA):c.*53C>T
NM_033550.4(TP53RK):c.185G>A (p.Arg62His)
NM_033550.4(TP53RK):c.616G>C (p.Ala206Pro)
NM_033641.4(COL4A6):c.4768C>T (p.Pro1590Ser) rs2148048891
NM_052813.5(CARD9):c.1434+1G>C rs141992399
NM_052859.4(RFT1):c.109C>T (p.Arg37Cys) rs764833139
NM_053013.4(ENO3):c.1277G>A (p.Arg426His)
NM_057175.5(NAA15):c.814A>G (p.Asn272Asp)
NM_058004.4(PI4KA):c.3109G>A (p.Ala1037Thr) rs1568988215
NM_058004.4(PI4KA):c.911T>A (p.Ile304Asn) rs752196534
NM_058179.4(PSAT1):c.1004A>T (p.His335Leu)
NM_078480.3(PUF60):c.361C>T (p.Arg121Trp) rs2130258570
NM_130466.4(UBE3B):c.1507G>A (p.Gly503Arg)
NM_130466.4(UBE3B):c.2519T>C (p.Ile840Thr)
NM_133259.4(LRPPRC):c.121C>T (p.Pro41Ser) rs908473003
NM_133433.4(NIPBL):c.4513C>G (p.Pro1505Ala)
NM_133433.4(NIPBL):c.5773G>A (p.Ala1925Thr)
NM_133433.4(NIPBL):c.7414A>G (p.Met2472Val)
NM_133433.4(NIPBL):c.7489G>T (p.Val2497Phe) rs759115050
NM_133433.4(NIPBL):c.8111G>A (p.Ser2704Asn)
NM_133443.4(GPT2):c.1481+3del
NM_133443.4(GPT2):c.328C>T (p.Arg110Trp)
NM_133443.4(GPT2):c.839A>G (p.Lys280Arg)
NM_133443.4(GPT2):c.886C>T (p.Leu296Phe)
NM_138295.5(PKD1L1):c.2027C>T (p.Pro676Leu)
NM_138395.4(MARS2):c.590T>A (p.Leu197His) rs2106292827
NM_138459.5(NUS1):c.22G>T (p.Val8Leu)
NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
NM_138477.4(CDAN1):c.2660C>T (p.Ala887Val)
NM_138576.4(BCL11B):c.1748C>T (p.Ala583Val)
NM_138576.4(BCL11B):c.182G>T (p.Cys61Phe) rs2139953989
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg)
NM_138694.4(PKHD1):c.1166C>T (p.Thr389Ile)
NM_138694.4(PKHD1):c.166T>C (p.Ser56Pro)
NM_138694.4(PKHD1):c.2179A>G (p.Asn727Asp)
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr) rs1554208064
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala) rs144365187
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg) rs745387993
NM_138694.4(PKHD1):c.5358C>G (p.Ser1786Arg)
NM_138694.4(PKHD1):c.619G>T (p.Asp207Tyr)
NM_138694.4(PKHD1):c.6332+2T>A rs1783090781
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_138927.4(SON):c.2005G>A (p.Val669Met)
NM_138927.4(SON):c.5647AGA[1] (p.Arg1884del)
NM_138927.4(SON):c.761C>T (p.Thr254Ile) rs2085722208
NM_144573.4(NEXN):c.1251+1G>A rs1650474978
NM_144573.4(NEXN):c.1499C>A (p.Ala500Glu) rs2102176895
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_144599.5(NIPA1):c.257C>G (p.Ala86Gly)
NM_145207.3(AFG2A):c.2406A>C (p.Arg802Ser) rs1741466817
NM_145239.3(PRRT2):c.15CTCTGAGAT[3] (p.Ile8_Glu10dup) rs757994031
NM_145239.3(PRRT2):c.769G>A (p.Glu257Lys) rs2142426795
NM_145309.6(LRRC51):c.330del (p.His110fs) rs2136541413
NM_152268.4(PARS2):c.874T>C (p.Cys292Arg) rs779085274
NM_152269.5(MTRFR):c.292A>C (p.Thr98Pro)
NM_152383.5(DIS3L2):c.553G>T (p.Val185Leu)
NM_152415.3(VPS37A):c.1157C>T (p.Ala386Val)
NM_152419.3(HGSNAT):c.1517G>A (p.Arg506Gln)
NM_152564.5(VPS13B):c.2515+16591C>G
NM_152641.4(ARID2):c.4252G>A (p.Gly1418Arg) rs2138178282
NM_152743.4(BRAT1):c.1771-32C>T
NM_153252.5(BRWD3):c.11C>T (p.Ala4Val)
NM_153252.5(BRWD3):c.1387-5T>C
NM_153766.3(KCNJ1):c.302C>T (p.Pro101Leu)
NM_153766.3(KCNJ1):c.513G>T (p.Lys171Asn)
NM_170606.3(KMT2C):c.11720C>T (p.Thr3907Ile) rs2129099844
NM_170606.3(KMT2C):c.30G>T (p.Glu10Asp)
NM_170606.3(KMT2C):c.3821A>G (p.Lys1274Arg)
NM_170606.3(KMT2C):c.3863G>A (p.Arg1288Gln) rs1345303559
NM_170606.3(KMT2C):c.6349T>C (p.Ser2117Pro)
NM_170606.3(KMT2C):c.6491G>T (p.Gly2164Val)
NM_170606.3(KMT2C):c.7170C>G (p.Ile2390Met)
NM_170606.3(KMT2C):c.8011A>G (p.Thr2671Ala)
NM_170606.3(KMT2C):c.8342T>A (p.Ile2781Asn)
NM_170606.3(KMT2C):c.8849A>T (p.His2950Leu)
NM_170675.5(MEIS2):c.1114del (p.Asp372fs)
NM_170675.5(MEIS2):c.1147+347del
NM_170675.5(MEIS2):c.236C>G (p.Ala79Gly) rs1208597242
NM_172107.4(KCNQ2):c.1787G>C (p.Gly596Ala) rs2145497630
NM_172107.4(KCNQ2):c.856C>G (p.Gln286Glu)
NM_172362.3(KCNH1):c.2020C>T (p.Arg674Trp) rs754794236
NM_172362.3(KCNH1):c.2636C>T (p.Ser879Leu) rs2149000783
NM_172362.3(KCNH1):c.2735A>C (p.His912Pro) rs2149000714
NM_173076.3(ABCA12):c.3416T>C (p.Leu1139Pro) rs2105976738
NM_173602.3(DIP2B):c.1537C>T (p.Pro513Ser)
NM_173630.4(RTTN):c.3596T>C (p.Ile1199Thr)
NM_173630.4(RTTN):c.6226A>T (p.Ile2076Phe) rs554677788
NM_173849.3(GSC):c.256G>C (p.Gly86Arg) rs951684427
NM_174916.3(UBR1):c.593T>C (p.Ile198Thr)
NM_174934.4(SCN4B):c.377C>T (p.Thr126Met)
NM_176787.5(PIGN):c.1147T>G (p.Leu383Val) rs2147134178
NM_176787.5(PIGN):c.130AGA[1] (p.Arg45del) rs1568244811
NM_176787.5(PIGN):c.370G>A (p.Asp124Asn) rs2147517284
NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn)
NM_176869.3(PPA2):c.791C>T (p.Ala264Val) rs2110390901
NM_177398.4(LMX1A):c.581G>T (p.Arg194Leu)
NM_177986.5(DSG4):c.1005+1G>A
NM_178014.4(TUBB):c.161C>T (p.Ala54Val) rs1776362492
NM_178335.3(CCDC50):c.372G>C (p.Glu124Asp)
NM_181486.4(TBX5):c.634A>G (p.Ile212Val)
NM_181486.4(TBX5):c.663+4A>T
NM_181507.2(HPS5):c.2068A>C (p.Lys690Gln)
NM_181672.3(OGT):c.2723A>G (p.Lys908Arg)
NM_182641.4(BPTF):c.1074G>C (p.Glu358Asp)
NM_182641.4(BPTF):c.3403G>A (p.Asp1135Asn) rs2146917785
NM_182641.4(BPTF):c.5044T>C (p.Tyr1682His)
NM_182641.4(BPTF):c.8201A>G (p.Lys2734Arg)
NM_182914.3(SYNE2):c.17583G>T (p.Trp5861Cys)
NM_182925.5(FLT4):c.3209G>T (p.Arg1070Leu) rs771345898
NM_182931.3(KMT2E):c.4244A>C (p.His1415Pro)
NM_182978.4(GNAL):c.311G>A (p.Gly104Asp)
NM_183381.3(RNF13):c.262A>T (p.Asn88Tyr)
NM_194248.3(OTOF):c.1126G>A (p.Asp376Asn)
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln) rs80356585
NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp)
NM_194248.3(OTOF):c.3017C>G (p.Thr1006Ser)
NM_194454.3(KRIT1):c.1411+2_1411+5del
NM_198334.3(GANAB):c.1787G>A (p.Arg596His)
NM_198334.3(GANAB):c.428C>A (p.Ala143Asp)
NM_198428.3(BBS9):c.328G>A (p.Gly110Arg)
NM_198503.5(KCNT2):c.3289G>A (p.Asp1097Asn)
NM_198578.4(LRRK2):c.7015A>G (p.Arg2339Gly)
NM_198880.3(QRICH1):c.1245A>G (p.Ile415Met)
NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter) rs2106802170
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn) rs1194428749
NM_201525.4(ADGRG1):c.1232G>A (p.Cys411Tyr)
NM_205768.3(ZBTB18):c.446A>G (p.Lys149Arg)
NM_205768.3(ZBTB18):c.859G>A (p.Ala287Thr)
NM_206933.4(USH2A):c.1469A>C (p.His490Pro)
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro) rs2034852728
NM_207037.2(TCF12):c.20dup (p.Met8fs)
NM_207111.4(RNF216):c.2374G>A (p.Asp792Asn) rs1012568298
NM_207352.4(CYP4V2):c.833C>T (p.Ala278Val)
NM_207361.6(FREM2):c.475G>A (p.Ala159Thr)
NM_212482.4(FN1):c.2605G>A (p.Asp869Asn)
NM_212482.4(FN1):c.5920C>G (p.Leu1974Val) rs2106292157
NM_213653.4(HJV):c.614G>C (p.Ser205Thr)
NM_213653.4(HJV):c.950G>A (p.Cys317Tyr) rs1553769457

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