ClinVar Miner

List of variants reported as pathogenic by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2281
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HGVS dbSNP gnomAD frequency
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549 0.00252
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619 0.00064
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_012193.4(FZD4):c.766A>G (p.Ile256Val) rs104894223 0.00054
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) rs779248881 0.00037
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) rs201820739 0.00035
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter) rs121908002 0.00035
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648 0.00034
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000542.5(SFTPB):c.361C>G (p.Pro121Ala) rs141905538 0.00025
NM_000542.5(SFTPB):c.361_362insAA (p.Pro121fs) rs779795223 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter) rs114733570 0.00021
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) rs777989874 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_207352.4(CYP4V2):c.414-1G>A rs767779208 0.00015
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) rs200286768 0.00011
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_015937.6(PIGT):c.988C>T (p.Arg330Ter) rs201317502 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_014844.5(TECPR2):c.1319del (p.Leu440fs) rs750908377 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996 0.00006
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294 0.00006
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter) rs369437593 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NR_033294.2(SNORD118):n.72A>G rs201558321 0.00006
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs) rs72664233 0.00005
NM_003052.5(SLC34A1):c.244G>T (p.Glu82Ter) rs377186926 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys) rs387906886 0.00005
NM_024666.5(AAGAB):c.370C>T (p.Arg124Ter) rs200564757 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp) rs28940875 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) rs28936701 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743 0.00004
NM_000350.3(ABCA4):c.4773+3A>G rs759672616 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000492.4(CFTR):c.2988G>A (p.Gln996=) rs121908797 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His) rs118204009 0.00004
NM_001003841.3(SLC6A19):c.718C>T (p.Arg240Ter) rs121434347 0.00004
NM_001009944.3(PKD1):c.4709C>T (p.Thr1570Met) rs368161263 0.00004
NM_001139.3(ALOX12B):c.1272dup (p.Lys425fs) rs763328506 0.00004
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) rs780085174 0.00004
NM_005051.3(QARS1):c.1567C>T (p.Arg523Ter) rs767667312 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_021628.3(ALOXE3):c.680+1G>A rs764781178 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu) rs1057516344 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000358.3(TGFBI):c.371G>A (p.Arg124His) rs121909211 0.00003
NM_000387.6(SLC25A20):c.199-10T>G rs541208710 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794 0.00003
NM_002354.3(EPCAM):c.556-14A>G rs376155665 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp) rs376054085 0.00003
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala) rs587777222 0.00003
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) rs431905509 0.00003
NM_006059.4(LAMC3):c.976+1G>C rs201519274 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_014625.4(NPHS2):c.948del (p.Ala317fs) rs775170915 0.00003
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470 0.00003
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_173551.5(ANKS6):c.1973-3C>G rs397514257 0.00003
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter) rs769256027 0.00003
NM_199242.3(UNC13D):c.753+1G>T rs201908137 0.00003
NC_000011.10:g.47337730dup rs397515963 0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn) rs774144200 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000492.4(CFTR):c.579+3A>G rs397508761 0.00002
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys) rs758110629 0.00002
NM_001123385.2(BCOR):c.5042G>A (p.Arg1681His) rs372913827 0.00002
NM_014140.4(SMARCAL1):c.2291G>A (p.Arg764Gln) rs267607071 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter) rs587783227 0.00002
NM_020821.3(VPS13C):c.1111C>T (p.Arg371Ter) rs752457309 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025137.4(SPG11):c.704_705del (p.His235fs) rs312262719 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter) rs531851447 0.00002
NM_201548.5(CERKL):c.1012C>T (p.Arg338Ter) rs748394238 0.00002
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964 0.00001
NM_000059.4(BRCA2):c.6235del (p.Val2079fs) rs397507835 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) rs1229066957 0.00001
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser) rs72656387 0.00001
NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter) rs751535193 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter) rs1567702823 0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485 0.00001
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter) rs63750909 0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs) rs63751327 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) rs118204060 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202 0.00001
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp) rs201255024 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg) rs1375943362 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.4253+5G>A rs61750138 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter) rs771824413 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter) rs730881411 0.00001
NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs) rs397508138 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1584+1G>A rs397508230 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.302T>G (p.Leu101Ter) rs397508484 0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) rs139304906 0.00001
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg) rs397508616 0.00001
NM_000492.4(CFTR):c.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.579+5G>A rs78440224 0.00001
NM_000492.4(CFTR):c.580-2A>G rs193922730 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.392A>G (p.Asp131Gly) rs730882081 0.00001
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000531.6(OTC):c.618G>A (p.Met206Ile) rs72558413 0.00001
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000553.6(WRN):c.673C>T (p.Arg225Ter) rs370324188 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) rs774453006 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1627C>T (p.Gln543Ter) rs894292181 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter) rs762607878 0.00001
NM_001171.6(ABCC6):c.37-1G>A rs72657702 0.00001
NM_001171.6(ABCC6):c.3736-1G>A rs63750273 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001277115.2(DNAH11):c.5778+1G>A rs72657333 0.00001
NM_001378454.1(ALMS1):c.11669-1G>A rs750737346 0.00001
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter) rs776563011 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe) rs754043007 0.00001
NM_001759.4(CCND2):c.841C>T (p.Pro281Ser) rs587777621 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002087.4(GRN):c.708+1G>A rs63749817 0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter) rs113309941 0.00001
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) rs200075782 0.00001
NM_003622.4(PPFIBP1):c.2413C>T (p.Arg805Ter) rs146185523 0.00001
NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser) rs768180196 0.00001
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs) rs781171287 0.00001
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly) rs72549402 0.00001
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter) rs1057519324 0.00001
NM_005006.7(NDUFS1):c.1669C>T (p.Arg557Ter) rs372691318 0.00001
NM_005097.4(LGI1):c.988C>T (p.Arg330Ter) rs1027289865 0.00001
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys) rs59856285 0.00001
NM_005677.4(COLQ):c.1195+1G>A rs755782087 0.00001
NM_005912.3(MC4R):c.407C>T (p.Ser136Phe) rs1380965800 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_006565.4(CTCF):c.1103G>A (p.Arg368His) rs1259610303 0.00001
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) rs121907988 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter) rs756949505 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs) rs80357509 0.00001
NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter) rs80357134 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.4357+1G>A rs80358027 0.00001
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_012200.4(B3GAT3):c.505C>T (p.Arg169Trp) rs766019547 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) rs751970061 0.00001
NM_014875.3(KIF14):c.103C>T (p.Arg35Ter) rs774318019 0.00001
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys) rs780345312 0.00001
NM_016580.4(PCDH12):c.451C>T (p.Arg151Ter) rs1175979418 0.00001
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) rs564185858 0.00001
NM_017696.3(MCM9):c.394C>T (p.Arg132Ter) rs587777872 0.00001
NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter) rs200788163 0.00001
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241 0.00001
NM_018668.5(VPS33B):c.1246C>T (p.Arg416Ter) rs780626848 0.00001
NM_019042.5(PUS7):c.1348C>T (p.Arg450Ter) rs772282094 0.00001
NM_020159.5(SMARCAD1):c.2263T>C (p.Phe755Leu) rs1306010332 0.00001
NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_020745.4(AARS2):c.1871G>A (p.Trp624Ter) rs749701451 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_020919.4(ALS2):c.4626+1G>A rs1234882220 0.00001
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224 0.00001
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) rs1264582344 0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His) rs121908450 0.00001
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451 0.00001
NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter) rs768945306 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) rs180177091 0.00001
NM_025137.4(SPG11):c.4790G>A (p.Trp1597Ter) rs753920931 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter) rs761508149 0.00001
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp) rs121908642 0.00001
NM_144997.7(FLCN):c.490del (p.Arg164fs) rs1414696397 0.00001
NM_145269.5(CIBAR1):c.478C>T (p.Arg160Ter) rs368652620 0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter) rs370729939 0.00001
NM_201548.5(CERKL):c.1074-1G>C rs927261937 0.00001
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter) rs1394737087 0.00001
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe) rs748983904 0.00001
NM_207352.4(CYP4V2):c.801+1G>A rs761362530 0.00001
GRCh37/hg19 10p15.3-15.1(chr10:60501-5238964)x1
GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1
GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3
GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3
GRCh37/hg19 14q11.2(chr14:21851693-22089506)x1
GRCh37/hg19 14q12(chr14:27450705-31529481)x3
GRCh37/hg19 15q11.2(chr15:22743127-23246000)x1
GRCh37/hg19 15q11.2(chr15:22744149-23246340)x1
GRCh37/hg19 15q13.2-13.3(chr15:30805785-32686484)x1
GRCh37/hg19 15q13.2-13.3(chr15:30850097-32693726)x1
GRCh37/hg19 15q13.2-13.3(chr15:30854238-32892694)x1
GRCh37/hg19 15q13.2-13.3(chr15:30897996-32404614)x1
GRCh37/hg19 15q13.2-13.3(chr15:30897996-32442006)x1
GRCh37/hg19 15q13.2-13.3(chr15:30918974-32442006)x1
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3
GRCh37/hg19 16p11.2(chr16:28784627-29230353)x1
GRCh37/hg19 16p11.2(chr16:28834531-29001678)x1
GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3
GRCh37/hg19 16p11.2(chr16:29511270-30199844)x1
GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1
GRCh37/hg19 16p11.2(chr16:29511270-30243006)x1
GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1
GRCh37/hg19 16p11.2(chr16:29517464-30200058)x3
GRCh37/hg19 16p11.2(chr16:29675000-30199844)x1
GRCh37/hg19 16p11.2(chr16:29675000-30200058)x3
GRCh37/hg19 16p11.2(chr16:29675000-30200335)x3
GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3
GRCh37/hg19 16p12.2(chr16:21747532-22824584)x1
GRCh37/hg19 16p12.2(chr16:21751992-22546976)x1
GRCh37/hg19 16p12.2(chr16:21781158-22825913)x1
GRCh37/hg19 16p12.2(chr16:21869250-22524572)x1
GRCh37/hg19 16p12.2(chr16:21964695-22376385)x1
GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1
GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3
GRCh37/hg19 16p13.11(chr16:15126890-16293190)x3
GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1
GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1
GRCh37/hg19 16p13.3(chr16:215947-231157)x1
GRCh37/hg19 16q21(chr16:58587636-58610536)x1
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3
GRCh37/hg19 17p12(chr17:14095256-15477547)x1
GRCh37/hg19 17p12(chr17:14095256-15492591)x3
GRCh37/hg19 17p12(chr17:14096089-15492591)x3
GRCh37/hg19 17q12(chr17:34752221-36105007)x3
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3
GRCh37/hg19 1q21.1(chr1:145365275-145826979)x3
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3
GRCh37/hg19 1q21.1-21.2(chr1:146022474-147599371)x3
GRCh37/hg19 1q21.1-21.2(chr1:146474687-147415708)x1
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1
GRCh37/hg19 20q13.33(chr20:61828010-62324686)x1
GRCh37/hg19 22p13(chr22:135350-150557)x1
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3
GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1
GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3
GRCh37/hg19 22q11.21(chr22:19036286-21208284)x1
GRCh37/hg19 22q11.21(chr22:20609932-21576553)x1
GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1
GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1
GRCh37/hg19 2p21(chr2:47612218-47693997)x1
GRCh37/hg19 2p25.3(chr2:10501-2386917)x1
GRCh37/hg19 2q13(chr2:111335152-113127204)x1
GRCh37/hg19 2q24.3(chr2:166152284-167760450)x1
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3
GRCh37/hg19 3p24.3(chr3:18004128-19575641)x1
GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1
GRCh37/hg19 6q27(chr6:169830713-171022896)x1
GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1
GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1
GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1
GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3
GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3
GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1
GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1
GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1
GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1
GRCh37/hg19 9q21.13(chr9:77112742-77113051)x1
GRCh37/hg19 Xp11.22(chrX:53239546-53349064)x1
GRCh37/hg19 Xp22.2(chrX:9702717-9709328)x0
GRCh37/hg19 Xq28(chrX:153217915-153618382)x2
GRCh37/hg19 Xq28(chrX:153247464-153522710)x3
GRCh37/hg19 Xq28(chrX:153283692-153298113)x1
Multiple alleles
NC_000007.14:g.117603679_117603684delinsTCAGA rs1554391033
NC_000010.11:g.119675031_119678711del
NC_000011.10:g.47333236del rs727503172
NC_000017.11:g.58709788_58734292del
NC_000019.9:g.(11213519_11215396)_(11244426_11256864)del
NC_000023.10:g.(153784642_153786697)_(153792726_153814360)del
NC_000023.11:g.70027876_70027911del rs397516665
NC_000023.11:g.70027902_70027919del rs397516668
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NC_012920.1(MT-ATP6):m.9176T>C rs199476135
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND5):m.12425del rs1603223730
NC_012920.1(MT-ND5):m.13513G>A rs267606897
NC_012920.1(MT-ND6):m.14484T>C rs199476104
NC_012920.1(MT-TK):m.8344A>G rs118192098
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.163C>T (p.Gln55Ter)
NM_000033.4(ABCD1):c.1768C>T (p.Gln590Ter) rs2091765003
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1907G>T (p.Ser636Ile) rs2091773697
NM_000033.4(ABCD1):c.234_565del (p.Leu79fs)
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro) rs2091707324
NM_000033.4(ABCD1):c.524_526del (p.Phe175del) rs2091707872
NM_000033.4(ABCD1):c.855del (p.Val286fs)
NM_000033.4(ABCD1):c.886_887delinsAG (p.Tyr296Ser) rs2148389994
NM_000037.4(ANK1):c.382_386del (p.Lys128fs) rs2150661824
NM_000038.6(APC):c.1720G>T (p.Glu574Ter) rs1764024563
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.2299C>T (p.Gln767Ter) rs1561575998
NM_000038.6(APC):c.2735T>A (p.Leu912Ter)
NM_000038.6(APC):c.3559dup (p.Ile1187fs)
NM_000038.6(APC):c.4285C>T (p.Gln1429Ter) rs74535574
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs) rs730881273
NM_000038.6(APC):c.646-2A>C
NM_000048.4(ASL):c.1207del (p.Val403fs) rs1554328363
NM_000048.4(ASL):c.706C>T (p.Arg236Trp) rs761268464
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000052.7(ATP7A):c.1174_1180del (p.Val392fs)
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter) rs797045336
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1029del (p.Lys343fs) rs80359260
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs) rs80359277
NM_000059.4(BRCA2):c.1805del (p.Gly602fs) rs397507608
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs) rs80359314
NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter) rs398122735
NM_000059.4(BRCA2):c.2244_2245del (p.Tyr748_Ser749delinsTer) rs879255442
NM_000059.4(BRCA2):c.2676_2677del (p.Phe892fs) rs2137488835
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs) rs80359365
NM_000059.4(BRCA2):c.3067_3071del (p.His1022_Asn1023insTer) rs80359369
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs) rs80359374
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs) rs80359377
NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs) rs34575057
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs) rs886040494
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs) rs397507683
NM_000059.4(BRCA2):c.3772del (p.Pro1257_Ile1258insTer) rs397507684
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs) rs397507333
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs) rs80359448
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs) rs80359460
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs) rs80359462
NM_000059.4(BRCA2):c.476-1G>A rs397507340
NM_000059.4(BRCA2):c.5217_5224del rs80359497
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter) rs80358790
NM_000059.4(BRCA2):c.5681dup (p.Tyr1894Ter) rs80359527
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5807del (p.Met1936fs) rs1555284404
NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter) rs80358838
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs) rs276174868
NM_000059.4(BRCA2):c.6269del (p.His2090fs) rs1375058950
NM_000059.4(BRCA2):c.6447_6448dup (p.Lys2150fs) rs397507858
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter) rs397507866
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.765_769del (p.Asn255fs) rs2072386817
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter) rs80359004
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs) rs276174904
NM_000059.4(BRCA2):c.8639_8640del (p.Thr2880fs) rs886038184
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8827C>T (p.Gln2943Ter) rs2137619580
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs) rs80359734
NM_000059.4(BRCA2):c.9025dup (p.Tyr3009fs) rs786203575
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9403del rs80359760
NM_000059.4:c.(7007+1_7008-1)_(10307_?)del
NM_000061.3:c.(240+1_241-1)_(391+1_392-1)del
NM_000061.3:c.495_(520+1_521-1)del
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys) rs28940870
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg) rs104894777
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) rs104894098
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.4(COL1A1):c.1299+5G>A rs193922139
NM_000088.4(COL1A1):c.2684del (p.Pro895fs) rs72653151
NM_000088.4(COL1A1):c.2793del (p.Gly932fs) rs1906866028
NM_000088.4(COL1A1):c.3897C>A (p.Cys1299Ter)
NM_000089.4(COL1A2):c.1847G>A (p.Gly616Glu) rs1554397133
NM_000089.4(COL1A2):c.3305G>C (p.Gly1102Ala) rs68063264
NM_000094.4(COL7A1):c.4250del (p.Gly1417fs)
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000117.3(EMD):c.22del (p.Ser8fs)
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000127.3(EXT1):c.142_143insCCCGCACC (p.His48fs)
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.5(FBN1):c.3539G>A (p.Cys1180Tyr) rs1555398513
NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly) rs2141279837
NM_000138.5(FBN1):c.5885dup (p.Tyr1962Ter)
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His) rs121918489
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.907_910del (p.Pro304fs)
NM_000147.5(FUCA1):c.768+1G>A rs1639468949
NM_000153.4:c.(1161+1_1162-1)_(*1718_?)del
NM_000156.6(GAMT):c.442dup (p.Gln148fs) rs2082618262
NM_000162.5(GCK):c.214G>C (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) rs121918408
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs) rs63750854
NM_000179.3(MSH6):c.1423C>T (p.Gln475Ter) rs1553412835
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.3(MSH6):c.3080dup (p.Ser1028fs) rs1572730021
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer) rs1114167767
NM_000179.3(MSH6):c.3811dup (p.Val1271fs)
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000193.4(SHH):c.37del (p.Val13fs)
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys) rs1057520644
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000216.4(ANOS1):c.1539del (p.Glu514fs) rs1929603954
NM_000217.3(KCNA1):c.847G>A (p.Glu283Lys) rs2137673633
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp) rs59616921
NM_000232.5(SGCB):c.82_86del (p.Glu28fs) rs1553940687
NM_000238.4(KCNH2):c.1913del (p.Lys638fs)
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1713del (p.Phe571fs) rs2125957913
NM_000249.4(MLH1):c.18_34del (p.Val7fs) rs63751892
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.4(MLH1):c.791-5T>G rs267607788
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.3(MSH2):c.1759+1G>T rs587779108
NM_000251.3(MSH2):c.204del (p.Pro69fs) rs63750199
NM_000251.3(MSH2):c.229_230del (p.Ser77fs) rs63749848
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer) rs63751621
NM_000251.3(MSH2):c.795del (p.Ala266fs) rs63749902
NM_000251.3:c.(1662+1_1663-1)_(2805+1_?)del
NM_000255.4(MMUT):c.1160C>T (p.Thr387Ile)
NM_000256.3(MYBPC3):c.1223+1G>T rs730880639
NM_000256.3(MYBPC3):c.1595dup (p.Gln533fs)
NM_000256.3(MYBPC3):c.1898-1G>T
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter) rs367947846
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2163-1G>A rs606231334
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu) rs397516153
NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs)
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) rs730880367
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs) rs1431589133
NM_000264.5(PTCH1):c.3053_3054delinsAA (p.Trp1018Ter)
NM_000264.5(PTCH1):c.3088_3099delinsAACACCAA (p.Leu1030fs) rs1839104595
NM_000264.5(PTCH1):c.3088_3099delinsTTGGTGTT (p.Phe1031fs) rs1839104595
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_000271.5(NPC1):c.3591+2T>C rs1555631888
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
NM_000275.3(OCA2):c.2055dup (p.Ala686fs)
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.4(PDHA1):c.949_952dup (p.Met318fs) rs2063232824
NM_000314.8(PTEN):c.184A>T (p.Lys62Ter) rs1564826779
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.8(PTEN):c.493-2_493-1delinsCC rs2132268858
NM_000314.8(PTEN):c.545T>C (p.Leu182Ser) rs794729664
NM_000314.8(PTEN):c.731del (p.Pro244fs)
NM_000314.8(PTEN):c.800dup (p.Asp268fs)
NM_000314.8(PTEN):c.827A>G (p.Asn276Ser)
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter) rs1554269046
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) rs281865289
NM_000330.4(RS1):c.53-1G>A rs1928241490
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000350.3(ABCA4):c.2012_2013del (p.Val671fs) rs1661098509
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs) rs118203597
NM_000368.5(TSC1):c.2028G>A (p.Trp676Ter) rs118203621
NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter) rs397514820
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter) rs118203681
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2503-1G>C rs118203705
NM_000368.5(TSC1):c.2510dup (p.Asn837fs) rs118203709
NM_000368.5(TSC1):c.509-1G>A rs1554819620
NM_000368.5(TSC1):c.731del (p.Pro244fs) rs1846543630
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.12784_12787del (p.Lys4261_Leu4262insTer)
NM_000384.3(APOB):c.2115del (p.Phe705fs)
NM_000388.4(CASR):c.386G>A (p.Cys129Tyr) rs2074565392
NM_000390.4(CHM):c.402dup (p.Asp135fs)
NM_000393.5(COL5A2):c.1159-60_2031+62dup
NM_000420.3(KEL):c.400+1G>A
NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer) rs1779702214
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) rs113994198
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter) rs886041341
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter) rs121434483
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.3241T>C (p.Cys1081Arg) rs2046827455
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000443.4(ABCB4):c.1939G>T (p.Glu647Ter)
NM_000444.6(PHEX):c.649G>T (p.Glu217Ter) rs1929219058
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1811-2A>G rs1693044156
NM_000474.4(TWIST1):c.346C>T (p.Arg116Trp)
NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter)
NM_000478.6(ALPL):c.1190-2A>T rs1644739549
NM_000478.6(ALPL):c.500C>T (p.Thr167Met) rs1408325840
NM_000484.4(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter) rs2071372283
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.7205del (p.Ile2402fs) rs1569513017
NM_000490.5(AVP):c.287G>T (p.Gly96Val) rs121964886
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.54-5940_273+10250del
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu) rs77932196
NM_000492.4(CFTR):c.1068G>A (p.Trp356Ter) rs397508150
NM_000492.4(CFTR):c.1080del (p.Trp361fs)
NM_000492.4(CFTR):c.1116+2T>A
NM_000492.4(CFTR):c.1117-1G>A rs797045160
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1159_1160del (p.Leu387fs)
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter) rs397508168
NM_000492.4(CFTR):c.1210-2A>C rs397508179
NM_000492.4(CFTR):c.1221del (p.Glu407fs)
NM_000492.4(CFTR):c.1234del (p.Ala412fs) rs397508181
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter) rs397508183
NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer) rs397508184
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser) rs397508224
NM_000492.4(CFTR):c.156del (p.Lys52fs) rs1346705436
NM_000492.4(CFTR):c.1584+675A>G
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1592_1593delinsG (p.Ile530_Ser531insTer)
NM_000492.4(CFTR):c.1642_1643del (p.Leu548fs) rs397508246
NM_000492.4(CFTR):c.165-2A>G rs397508250
NM_000492.4(CFTR):c.1679+1G>A rs397508263
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.4(CFTR):c.1703del (p.Leu568fs) rs397508274
NM_000492.4(CFTR):c.1738del (p.Val580fs) rs397508289
NM_000492.4(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.4(CFTR):c.1762G>T (p.Glu588Ter)
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1911del (p.Gln637fs) rs1554389296
NM_000492.4(CFTR):c.1949del (p.Phe650fs)
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter) rs1792036190
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.4(CFTR):c.1981del (p.Ile661fs) rs397508324
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter) rs397508331
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2053dup (p.Gln685fs) rs797045162
NM_000492.4(CFTR):c.2335del (p.Gln779fs)
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter) rs397508368
NM_000492.4(CFTR):c.236G>A (p.Trp79Ter) rs397508371
NM_000492.4(CFTR):c.2382_2383del (p.Ser795fs)
NM_000492.4(CFTR):c.2393dup (p.Gln799fs) rs397508372
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs) rs397508400
NM_000492.4(CFTR):c.2592_2593del (p.Ile864fs) rs397508401
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs) rs1554390864
NM_000492.4(CFTR):c.2705del (p.Ser902fs)
NM_000492.4(CFTR):c.2739T>G (p.Tyr913Ter)
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) rs121908751
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs) rs397508445
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.2909-1G>C rs397508456
NM_000492.4(CFTR):c.2989-2A>G rs193922515
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.303dup (p.Leu102fs) rs397508486
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.4(CFTR):c.3140-16T>A
NM_000492.4(CFTR):c.3180del (p.Gly1061fs)
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg) rs121909036
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs) rs397508518
NM_000492.4(CFTR):c.326_327del (p.Ser108_Tyr109insTer) rs121908798
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3294del (p.Trp1098fs) rs397508534
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter) rs397508536
NM_000492.4(CFTR):c.3322_3323del (p.Val1108fs)
NM_000492.4(CFTR):c.3322del (p.Val1108fs) rs2116085331
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3411_3414del (p.Met1137fs)
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter) rs397508560
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.4(CFTR):c.3525_3537del (p.Thr1176fs)
NM_000492.4(CFTR):c.3556C>T (p.Gln1186Ter) rs397508582
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) rs121908789
NM_000492.4(CFTR):c.3838C>T (p.Gln1280Ter) rs1584837173
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs) rs387906373
NM_000492.4(CFTR):c.3889del (p.Ser1297fs)
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.3891dup (p.Gly1298fs) rs397508633
NM_000492.4(CFTR):c.3908del (p.Asn1303fs) rs397508637
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter) rs193922732
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter) rs397508645
NM_000492.4(CFTR):c.3930G>A (p.Trp1310Ter)
NM_000492.4(CFTR):c.3976del (p.Ser1326fs) rs397508654
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter) rs397508684
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter) rs397508701
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.43del (p.Leu15fs) rs397508715
NM_000492.4(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.4(CFTR):c.498del (p.Lys166fs)
NM_000492.4(CFTR):c.50del (p.Phe17fs) rs397508714
NM_000492.4(CFTR):c.50dup (p.Ser18fs) rs397508714
NM_000492.4(CFTR):c.535C>T (p.Gln179Ter)
NM_000492.4(CFTR):c.54-1161_164+1603del
NM_000492.4(CFTR):c.558del (p.Asn186fs)
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.4(CFTR):c.708del (p.Gln237fs) rs1299250440
NM_000492.4(CFTR):c.743+1G>A rs397508791
NM_000492.4(CFTR):c.744-2A>G rs1057516646
NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg) rs397508796
NM_000492.4(CFTR):c.874_875del (p.Glu292fs) rs1799022949
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.4(CFTR):c.972del (p.Tyr325fs)
NM_000492.4:c.(1766+1_1767-1)_(2619+1_2620-1)del
NM_000492.4:c.(2619+1_2620-1)_(3367+1_3368-1)del
NM_000492.4:c.(273+1_274-1)_(1584+1_1585-1)del
NM_000492.4:c.(273+1_274-1)_(1679+1_1680-1)del
NM_000492.4:c.(2908+1_2909-1)_(4242+1_4243-1)del
NM_000492.4:c.(2988+1_2989-1)_(3367+1_3368-1)del
NM_000492.4:c.(2988+1_2989-1)_(3468+1_3469-1)del
NM_000492.4:c.(3139+1_3140-1)_(3367+1_3368-1)del
NM_000492.4:c.(3468+1_3469-1)_(3717+1_3718-1)del
NM_000492.4:c.(3468+1_3469-1)_(3963+1_3964-1)del
NM_000492.4:c.(3873+1_3874-1)_(3963+1_3964-1)del
NM_000492.4:c.(3963+1_3964-1)_(*1_?)del
NM_000492.4:c.(4136+1_4137-1)_(4242+1_4243-1)del
NM_000492.4:c.(53+1_54-1)_(1209+1_1210+1)del
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)del
NM_000492.4:c.(743+1_744-1)_(1584+1_1585-1)dup
NM_000492.4:c.(?_-1)_(*1_?)del
NM_000492.4:c.53+9713_1392+2669del
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000515.5(GH1):c.59G>A (p.Trp20Ter) rs137853219
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000521.4(HEXB):c.1478_1479del (p.Val493fs)
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1061-2A>G rs879254773
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.5(LDLR):c.2167del (p.Glu723fs) rs879255153
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.5(LDLR):c.283T>A (p.Cys95Ser) rs879254456
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.417C>A (p.Asp139Glu) rs537484504
NM_000527.5(LDLR):c.526_533dup (p.Asp178fs) rs879254562
NM_000527.5(LDLR):c.557dup (p.Leu187fs) rs879254573
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.666_679del (p.Cys222_Asp227delinsTer)
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp) rs879254716
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000531.6(OTC):c.533C>T (p.Thr178Met) rs72556284
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.24-2A>C rs1583419860
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter) rs587779343
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu) rs193922766
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000543.5(SMPD1):c.759C>A (p.Asp253Glu) rs752000778
NM_000545.8(HNF1A):c.1541dup (p.His514fs) rs1877293842
NM_000546.6(TP53):c.159G>A (p.Trp53Ter) rs1064794618
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.559+1G>T rs1131691042
NM_000546.6(TP53):c.636del (p.Arg213fs) rs864309495
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000548.5(TSC2):c.109G>T (p.Glu37Ter)
NM_000548.5(TSC2):c.2221-1G>C rs45517218
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs) rs137854302
NM_000548.5(TSC2):c.440_441del (p.Thr147fs) rs137854292
NM_000548.5(TSC2):c.4439dup (p.Leu1480fs)
NM_000548.5(TSC2):c.4662+1G>A rs45514095
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter) rs45517388
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.775-1G>C rs45454192
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer) rs267607345
NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs) rs748860208
NM_000557.5(GDF5):c.992del (p.Arg331fs) rs2146579283
NM_000685.5(AGTR1):c.415C>T (p.Arg139Ter) rs1417391173
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) rs121918616
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) rs121918615
NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln) rs757310141
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg) rs1468416468
NM_000709.4(BCKDHA):c.773_774delinsAA (p.Cys258Ter) rs2122143379
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter) rs111033580
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000784.4(CYP27A1):c.1297dup (p.Arg433fs)
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) rs771819245
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) rs1889966424
NM_000829.4(GRIA4):c.2090G>A (p.Arg697Gln)
NM_000834.5(GRIN2B):c.1088del (p.Val363fs) rs1950068369
NM_000834.5(GRIN2B):c.1119G>A (p.Trp373Ter) rs1555119408
NM_000834.5(GRIN2B):c.1238A>G (p.Glu413Gly) rs527236034
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1623C>G (p.Ser541Arg) rs1949419853
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.5(GRIN2B):c.1677G>A (p.Trp559Ter) rs398122825
NM_000834.5(GRIN2B):c.1966C>T (p.Gln656Ter) rs1135401799
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2131C>T (p.Gln711Ter) rs1555103959
NM_000834.5(GRIN2B):c.2172-2A>G rs398122824
NM_000834.5(GRIN2B):c.2360-2A>G rs1057519612
NM_000834.5(GRIN2B):c.2430C>A (p.Ser810Arg) rs864309560
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr) rs1948652117
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.411+1G>A rs1057519611
NM_000834.5(GRIN2B):c.538C>T (p.Gln180Ter) rs1555133154
NM_000834.5(GRIN2B):c.649C>T (p.Gln217Ter) rs1555133111
NM_000834.5(GRIN2B):c.737C>A (p.Ser246Ter) rs1863527228
NM_000834.5(GRIN2B):c.803_804del (p.Thr268fs) rs1060499526
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs) rs398122823
NM_000836.4(GRIN2D):c.1718C>T (p.Ser573Phe) rs2147452753
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe) rs1600982189
NM_000875.5(IGF1R):c.1093C>T (p.Arg365Ter) rs2151652750
NM_000937.5(POLR2A):c.2289C>G (p.Tyr763Ter)
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001005242.3(PKP2):c.1368dup (p.Gln457fs) rs1393661338
NM_001005242.3(PKP2):c.1A>G (p.Met1Val) rs794729107
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001008537.3(NEXMIF):c.1131dup (p.Lys378Ter)
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1763G>A (p.Trp588Ter) rs2147440717
NM_001008537.3(NEXMIF):c.3461dup (p.Cys1155fs)
NM_001008537.3(NEXMIF):c.3579del (p.Asn1195fs) rs2147439375
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) rs878854425
NM_001009944.3(PKD1):c.109del (p.Cys37fs) rs2151858299
NM_001009944.3(PKD1):c.11723T>C (p.Leu3908Pro) rs2151688569
NM_001009944.3(PKD1):c.12155_12156del (p.Val4052fs)
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs) rs1555462463
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs)
NM_001009944.3(PKD1):c.8049C>A (p.Cys2683Ter) rs377029031
NM_001009944.3(PKD1):c.9530dup (p.Gly3177_Ser3178insTer)
NM_001012426.2(FOXP4):c.1540G>A (p.Ala514Thr) rs2127404974
NM_001013836.2(MAD1L1):c.1396C>T (p.Gln466Ter)
NM_001013836.2(MAD1L1):c.820_823del (p.Glu274fs)
NM_001015877.2(PHF6):c.585+1G>A rs2077460481
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs) rs794728006
NM_001024630.4(RUNX2):c.424-1G>C
NM_001024630.4(RUNX2):c.868C>T (p.Gln290Ter) rs1311296877
NM_001029896.2(WDR45):c.1004_1005del (p.Tyr335fs) rs387907328
NM_001029896.2(WDR45):c.659_660del (p.Leu219_Phe220insTer) rs2065032149
NM_001029896.2(WDR45):c.787_800del (p.Ile263fs) rs2065030871
NM_001029896.2(WDR45):c.827+1G>A rs1557083958
NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter) rs2065029414
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001032221.6(STXBP1):c.1029+1G>A rs727504173
NM_001032221.6(STXBP1):c.1095_1096del (p.Cys366fs) rs1057518154
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1381_1390del (p.Lys461fs) rs1554778657
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_001032221.6(STXBP1):c.1454T>C (p.Ile485Thr)
NM_001032221.6(STXBP1):c.1557T>G (p.Tyr519Ter)
NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys) rs1842044505
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.1672delinsAACGGAAAGTGGGAGGTGGGAGG (p.Gln558fs) rs2131536257
NM_001032221.6(STXBP1):c.1702+1G>A rs796053377
NM_001032221.6(STXBP1):c.374_375del (p.Lys125fs) rs1841026473
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.830_831delinsC (p.Lys277fs)
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_001034853.2(RPGR):c.544_545del (p.Val182fs) rs2147276819
NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter) rs1679845277
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001039958.2(MESP2):c.49del (p.Ile17fs)
NM_001040142.2(SCN2A):c.1450del (p.Ser484fs) rs2105259671
NM_001040142.2(SCN2A):c.3736dup (p.Asp1246fs) rs1700953301
NM_001040142.2(SCN2A):c.3913dup (p.Leu1305fs) rs1701138696
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro) rs796053134
NM_001040142.2(SCN2A):c.452del (p.Pro151fs) rs1697224468
NM_001040142.2(SCN2A):c.802C>T (p.Gln268Ter) rs1553567936
NM_001042424.3(NSD2):c.1947_1948del (p.Glu650fs) rs2108940433
NM_001042475.3(CEP85L):c.2T>C (p.Met1Thr) rs1775537467
NM_001042492.3(NF1):c.1008_1009delinsAA (p.Trp336_Glu337delinsTer) rs2143873811
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1345_1346insGA (p.Lys449fs) rs2143914781
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1413del (p.Lys471_Val472insTer) rs746149047
NM_001042492.3(NF1):c.1601del (p.Pro534fs) rs2143986751
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1754T>G (p.Leu585Ter) rs775670722
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1809_1810del (p.Leu604fs) rs2144016775
NM_001042492.3(NF1):c.2366del (p.Lys789fs)
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3113+1G>C rs267606599
NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter) rs1555614635
NM_001042492.3(NF1):c.3351_3355del (p.Cys1117_Glu1119delinsTer) rs2151434514
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro) rs2067137547
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn) rs199474750
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter) rs1555533555
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5409del (p.Ile1803fs) rs2151541264
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.5523dup (p.His1842fs)
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807
NM_001042492.3(NF1):c.699del (p.Lys233fs)
NM_001042492.3(NF1):c.7063-1G>A rs1131691114
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.8114-2A>G
NM_001042603.3(KDM5A):c.4048C>T (p.Arg1350Ter) rs775280239
NM_001042681.2(RERE):c.3249dup (p.Ser1084fs) rs745806637
NM_001077350.3(NPRL3):c.119-1G>C rs2141981312
NM_001077350.3(NPRL3):c.189-1G>A rs1900184374
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001077350.3(NPRL3):c.768-1G>A
NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter) rs2141920098
NM_001077350.3:c.(118+1_119-1)_(188+1_189-1)del
NM_001079843.3(CASZ1):c.2440_2443dup (p.Val815fs)
NM_001079872.2(CUL4B):c.1742-2A>G
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs) rs1085307760
NM_001080467.3(MYO5B):c.4090C>T (p.Gln1364Ter) rs1264355256
NM_001080517.3(SETD5):c.1689del (p.Glu564fs) rs2125273254
NM_001080517.3(SETD5):c.2838_2847del (p.His947fs)
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001083619.3(GRIA2):c.1940T>C (p.Val647Ala)
NM_001083961.2(WDR62):c.1576G>T (p.Glu526Ter) rs147875659
NM_001083961.2(WDR62):c.2035-2A>G
NM_001083961.2(WDR62):c.2086del (p.Ser696fs) rs863223322
NM_001083961.2(WDR62):c.4312-1G>C rs1973640822
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) rs1553913019
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100.4(ACTA1):c.868G>C (p.Asp290His) rs1553255354
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110556.2(FLNA):c.138_139dup (p.Asn47fs) rs2067802877
NM_001110556.2(FLNA):c.2134C>T (p.Gln712Ter)
NM_001110556.2(FLNA):c.6395_6396del (p.Val2132fs)
NM_001110792.2(MECP2):c.1170_1183del (p.Val392fs) rs2148660771
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1173del (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1314_1315insCGTCACTA (p.Asp439delinsArgHisTer) rs2065907185
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) rs61753979
NM_001110792.2(MECP2):c.148_149insGCCAAAG (p.Glu50fs) rs2065989620
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.434G>C (p.Arg145Pro) rs61748389
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.808_1334del (p.Glu270fs) rs2148658938
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111125.3(IQSEC2):c.2710C>T (p.Arg904Ter) rs2074317360
NM_001111125.3(IQSEC2):c.3068dup (p.Ser1024fs) rs2074181394
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001114753.3(ENG):c.8G>A (p.Arg3His) rs1588604597
NM_001123385.2(BCOR):c.274del (p.Ser92fs)
NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val)
NM_001127208.3(TET2):c.2518del (p.His839_Leu840insTer)
NM_001127208.3(TET2):c.3755_3765dup (p.Gly1256Ter)
NM_001127222.2(CACNA1A):c.1668+519_1842del
NM_001127222.2(CACNA1A):c.1914-2A>C
NM_001127222.2(CACNA1A):c.194del (p.Ile65fs)
NM_001127222.2(CACNA1A):c.3437del (p.Val1146fs)
NM_001127222.2(CACNA1A):c.3990-2A>C
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4078delinsAT (p.Pro1360fs)
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) rs886042230
NM_001127392.3(MYRF):c.789dup (p.Ser264fs) rs769274302
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter) rs387906970
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001130144.3(LTBP3):c.3646G>T (p.Glu1216Ter)
NM_001130438.3(SPTAN1):c.1033C>T (p.Gln345Ter)
NM_001130438.3(SPTAN1):c.3706C>T (p.Gln1236Ter)
NM_001130438.3(SPTAN1):c.4936C>T (p.Gln1646Ter) rs1856640613
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001130438.3(SPTAN1):c.6924_6929dup (p.Met2309_Gln2310insHisMet)
NM_001134407.3(GRIN2A):c.154C>T (p.Arg52Ter)
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln) rs1555491654
NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs) rs2044762657
NM_001134673.4(NFIA):c.243dup (p.Asp82fs) rs1646257371
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001135659.3:c.(?_-921)_(931+1_932-1)del
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs) rs1203487591
NM_001136035.4(TRMT1):c.312del (p.Lys105fs) rs2019321826
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001145250.2(SP9):c.1133A>G (p.Glu378Gly) rs2105510219
NM_001145358.2(SIN3A):c.2152C>T (p.Arg718Ter) rs1444395453
NM_001148.6(ANK2):c.10768G>T (p.Glu3590Ter)
NM_001148.6(ANK2):c.3262C>T (p.Arg1088Ter)
NM_001162501.2(TNRC6B):c.2039G>A (p.Trp680Ter) rs750268759
NM_001162501.2(TNRC6B):c.3298C>T (p.Arg1100Ter)
NM_001163435.3(TBCK):c.193+1G>T rs1767828321
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1639_1640del (p.Lys547fs) rs2105850165
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val) rs767045134
NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter) rs863225031
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.264+5G>A rs794726762
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.3430-1552_3481del
NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro) rs1064796384
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3705+1G>A rs794726744
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) rs794726770
NM_001165963.4(SCN1A):c.3967C>A (p.Pro1323Thr)
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4002+1G>T rs1692153643
NM_001165963.4(SCN1A):c.4044G>C (p.Met1348Ile) rs794726822
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.4313T>C (p.Met1438Thr) rs796053010
NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr) rs2105486716
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)
NM_001165963.4(SCN1A):c.4943G>C (p.Arg1648Pro)
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) rs794726754
NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer) rs1689241423
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val) rs121917909
NM_001165963.4(SCN1A):c.7C>T (p.Gln3Ter)
NM_001165963.4(SCN1A):c.841C>T (p.Pro281Ser) rs1553549660
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys) rs781746113
NM_001165963.4(SCN1A):c.986del (p.Gly329fs) rs1698186316
NM_001167.4(XIAP):c.389_392del (p.Asp130fs) rs1556404575
NM_001170629.2(CHD8):c.5646_5647del (p.Arg1882fs) rs2139448045
NM_001171.6(ABCC6):c.105del (p.Val37fs) rs72664223
NM_001171.6(ABCC6):c.4209-2A>C rs1555506740
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1174-2A>G
NM_001172509.2(SATB2):c.1600del (p.Leu534fs)
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001172509.2(SATB2):c.721_722del (p.Asn241fs) rs1688740919
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.2620G>T (p.Glu874Ter)
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs) rs1928424117
NM_001190274.2(FBXO11):c.1543_1557del (p.Phe515_Lys519del) rs2104738808
NM_001190274.2(FBXO11):c.1696del (p.Ile566fs) rs2104731734
NM_001190274.2(FBXO11):c.1797+1G>A rs2104716005
NM_001190274.2(FBXO11):c.1798-1G>A rs2104703623
NM_001190274.2(FBXO11):c.2145G>C (p.Lys715Asn) rs1572764737
NM_001190274.2(FBXO11):c.2338+1G>A rs2104632978
NM_001190274.2(FBXO11):c.2392AAC[1] (p.Asn799del) rs2104626104
NM_001190274.2(FBXO11):c.2520_2521del (p.Ser841fs) rs2104621655
NM_001190274.2(FBXO11):c.2568_2572del (p.Asn857fs) rs2104613365
NM_001190274.2(FBXO11):c.2570_2572del (p.Asn857del) rs2104613345
NM_001190274.2(FBXO11):c.2592_2593del (p.Ile864fs) rs2104613193
NM_001190274.2(FBXO11):c.2685_2686del (p.Leu895_Ser896insTer) rs1572753822
NM_001190274.2(FBXO11):c.2738_2739del (p.Leu912_Tyr913insTer) rs1553334863
NM_001190274.2(FBXO11):c.2748_2749del (p.Pro917fs) rs2104610531
NM_001190274.2(FBXO11):c.319_320del (p.Leu107fs) rs1672866585
NM_001190274.2(FBXO11):c.500TCT[1] (p.Phe168del) rs2104856413
NM_001190274.2(FBXO11):c.552del (p.Lys184fs) rs2104856110
NM_001190274.2(FBXO11):c.588-2A>G rs2104833077
NM_001190274.2(FBXO11):c.668del (p.Pro223fs) rs2104832291
NM_001195553.2(DCX):c.478del (p.Gln160fs) rs2147263208
NM_001195553.2(DCX):c.586C>T (p.Arg196Cys) rs587783568
NM_001195553.2(DCX):c.628del (p.Val210fs) rs2147262801
NM_001195553.2(DCX):c.814C>T (p.Arg272Ter) rs587783590
NM_001195553.2(DCX):c.907C>T (p.Arg303Ter) rs587783592
NM_001197104.1:c.(4332+1_4333-1)_(6505+1_6506-1)del
NM_001197104.2(KMT2A):c.3241C>T (p.Arg1081Ter) rs2134282528
NM_001197104.2(KMT2A):c.7659dup (p.Glu2554fs) rs1057520177
NM_001197104.2(KMT2A):c.9668_9672del (p.Lys3223fs)
NM_001198800.3(ASCC1):c.714C>A (p.Tyr238Ter) rs138245920
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001242896.3(DEPDC5):c.1453C>T (p.Arg485Ter) rs1568991466
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter) rs1057519107
NM_001242896.3(DEPDC5):c.248_249del (p.Gln83fs)
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.3(DEPDC5):c.4204-2A>G
NM_001242896.3(DEPDC5):c.767+1G>A rs2148514247
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001256627.2(BRSK2):c.117C>A (p.Cys39Ter)
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3236+1G>A rs1064797371
NM_001257180.2(SLC20A2):c.80_92del (p.Asn27fs) rs2131228068
NM_001267550.2(TTN):c.104849C>A (p.Ser34950Ter)
NM_001267550.2(TTN):c.48638+1del
NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs)
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.83821G>T (p.Glu27941Ter)
NM_001267550.2(TTN):c.86168del (p.Phe28723fs)
NM_001267550.2(TTN):c.97560G>A (p.Trp32520Ter) rs1694489284
NM_001271.4(CHD2):c.1663_1664insC (p.Trp555fs)
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter) rs2054212444
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001273.5(CHD4):c.3655del (p.Leu1219fs)
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) rs1064793163
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_001278512.2(AP3B2):c.2261+2T>C rs1555464774
NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter) rs398123059
NM_001278716.2(FBXL4):c.1641_1642del (p.Cys547_Asp548delinsTer) rs765882664
NM_001282225.2(ADA2):c.158del (p.Asn53fs) rs2062393838
NM_001282225.2(ADA2):c.2T>A (p.Met1Lys) rs745795188
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln) rs690016548
NM_001291415.2(KDM6A):c.3773_3776dup (p.Tyr1260fs)
NM_001291415.2:c.(564+1_565-1)_(619+1_620-1)del
NM_001298.3(CNGA3):c.1088T>C (p.Leu363Pro)
NM_001298.3(CNGA3):c.1708A>G (p.Ser570Gly) rs2104249895
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys) rs1602510200
NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter) rs1085307703
NM_001320.7(CSNK2B):c.310G>T (p.Gly104Ter)
NM_001320.7(CSNK2B):c.342_343insTT (p.Glu115fs)
NM_001320.7(CSNK2B):c.95A>C (p.Asp32Ala)
NM_001321075.3(DLG4):c.1018_1025del (p.Phe340fs) rs1597453595
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=) rs1227093654
NM_001321075.3(DLG4):c.1084-1G>T rs2142844164
NM_001321075.3(DLG4):c.1102C>T (p.Arg368Ter) rs1597452702
NM_001321075.3(DLG4):c.1195C>T (p.Arg399Ter) rs2069779430
NM_001321075.3(DLG4):c.1201G>T (p.Glu401Ter) rs2069778929
NM_001321075.3(DLG4):c.129del (p.Asp43fs)
NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter) rs2069660959
NM_001321075.3(DLG4):c.1458del (p.Phe487fs) rs2142830670
NM_001321075.3(DLG4):c.1478+2T>C rs542036630
NM_001321075.3(DLG4):c.1478+4_1478+19del rs2142830394
NM_001321075.3(DLG4):c.1486C>T (p.Arg496Ter) rs2142828228
NM_001321075.3(DLG4):c.148dup (p.Tyr50fs) rs869312859
NM_001321075.3(DLG4):c.1496G>A (p.Trp499Ter) rs1160688414
NM_001321075.3(DLG4):c.1497G>A (p.Trp499Ter) rs2142828170
NM_001321075.3(DLG4):c.1546C>T (p.Arg516Ter) rs778104648
NM_001321075.3(DLG4):c.1592-1G>A rs2142825829
NM_001321075.3(DLG4):c.1672A>T (p.Lys558Ter) rs2142825224
NM_001321075.3(DLG4):c.1693+1G>A rs2142825211
NM_001321075.3(DLG4):c.1714del (p.Glu572fs) rs1597442444
NM_001321075.3(DLG4):c.1757G>A (p.Arg586Gln) rs2142821925
NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile) rs2142821651
NM_001321075.3(DLG4):c.1849C>T (p.Arg617Ter) rs767384318
NM_001321075.3(DLG4):c.1855del (p.Val619fs) rs2142821587
NM_001321075.3(DLG4):c.1866+2T>C rs2142821543
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter) rs1451196379
NM_001321075.3(DLG4):c.193G>T (p.Glu65Ter) rs2142888007
NM_001321075.3(DLG4):c.2074_2078delinsT (p.Val692fs) rs2142803273
NM_001321075.3(DLG4):c.211-2A>G rs2142886707
NM_001321075.3(DLG4):c.218C>G (p.Ser73Ter) rs2142886687
NM_001321075.3(DLG4):c.243dup (p.Gly82fs) rs2142886600
NM_001321075.3(DLG4):c.319C>T (p.Gln107Ter) rs2142886433
NM_001321075.3(DLG4):c.326del (p.Gly109fs) rs1597472411
NM_001321075.3(DLG4):c.339del (p.Asn114fs) rs2142885916
NM_001321075.3(DLG4):c.478G>T (p.Glu160Ter) rs2142885279
NM_001321075.3(DLG4):c.525dup (p.Gly176fs) rs1597471063
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val) rs2142884433
NM_001321075.3(DLG4):c.557A>T (p.Asp186Val) rs2142884288
NM_001321075.3(DLG4):c.605del (p.Lys202fs) rs1064795686
NM_001321075.3(DLG4):c.787+2T>C rs2142881946
NM_001321075.3(DLG4):c.792T>A (p.Tyr264Ter) rs2069827755
NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter) rs1182894684
NM_001321075.3(DLG4):c.990C>T (p.Gly330=) rs769940216
NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs) rs1926261579
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.1419del (p.Gln475fs) rs2147160726
NM_001323289.2(CDKL5):c.1756_1759del (p.Ser586fs) rs1926298368
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter) rs1926301954
NM_001323289.2(CDKL5):c.2578C>T (p.Gln860Ter) rs1927139054
NM_001323289.2(CDKL5):c.2668del (p.Arg890fs)
NM_001323289.2(CDKL5):c.523A>G (p.Arg175Gly) rs1925574557
NM_001323289.2(CDKL5):c.52dup (p.Val18fs)
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.670C>T (p.Gln224Ter) rs1925701271
NM_001323289.2(CDKL5):c.878dup (p.Asn293fs) rs1926080187
NM_001326342.2(CELF2):c.883del (p.Ala295fs)
NM_001329943.3(KIAA0586):c.2255-1G>C rs2040876556
NM_001329943.3(KIAA0586):c.3142_3144+5del rs771240219
NM_001330078.2(NRXN1):c.-59_772+1193del
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs) rs2138862858
NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp) rs879255703
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330288.2(SMARCC2):c.172C>T (p.Gln58Ter) rs1877432240
NM_001332.4:c.(1761+1_1762-1)_(3084+1_3085-1)del
NM_001347721.2(DYRK1A):c.1354_1357del (p.Asp452fs) rs2053566124
NM_001347721.2(DYRK1A):c.1526C>G (p.Ser509Ter)
NM_001347721.2(DYRK1A):c.638-1G>T rs2148612254
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001347721.2(DYRK1A):c.687del (p.Phe229fs) rs2053036372
NM_001347721.2(DYRK1A):c.931C>T (p.Gln311Ter) rs1555985524
NM_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter) rs1553636520
NM_001348323.3(TRIP12):c.3869del (p.Leu1290fs)
NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs) rs2154256586
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs) rs769566928
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln) rs878854416
NM_001348800.3(ZBTB20):c.1916G>T (p.Cys639Phe) rs2079589483
NM_001349253.2(SCN11A):c.664C>A (p.Arg222Ser)
NM_001349338.3(FOXP1):c.1248dup (p.Val417fs) rs2037930387
NM_001349338.3(FOXP1):c.1409A>T (p.Tyr470Phe) rs769448730
NM_001349338.3(FOXP1):c.945del (p.Val316fs) rs2044341412
NM_001353214.3(DYM):c.947-2A>G rs567638775
NM_001353345.2(SETD1B):c.22dup (p.His8fs)
NM_001353345.2(SETD1B):c.2338C>T (p.Gln780Ter)
NM_001353345.2(SETD1B):c.293_294insAACGTGGG (p.Pro99fs) rs2137544133
NM_001354604.2(MITF):c.808C>T (p.Leu270=) rs1439150504
NM_001356.5(DDX3X):c.1443dup (p.Glu482fs) rs2147358635
NM_001356.5(DDX3X):c.1693C>T (p.Gln565Ter) rs2147360033
NM_001356.5(DDX3X):c.207T>G (p.Tyr69Ter) rs2147348697
NM_001357.5(DHX9):c.1876C>T (p.Gln626Ter)
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365902.3(NFIX):c.187G>T (p.Glu63Ter) rs2013234045
NM_001365902.3(NFIX):c.220del (p.Arg74fs) rs2013235786
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001366521.1(ATP2B1):c.2632C>T (p.Gln878Ter) rs1033577592
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001367916.1(MAGT1):c.948G>A (p.Trp316Ter) rs2076895533
NM_001368882.1(COL13A1):c.1138C>T (p.Gln380Ter) rs2064735979
NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter) rs1237278944
NM_001368894.2(PAX6):c.141G>T (p.Gln47His) rs2135147324
NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter) rs1131692304
NM_001369.3(DNAH5):c.1731-1G>C
NM_001370100.5(ZMYND11):c.1129del (p.Ser377fs) rs2131927984
NM_001370100.5(ZMYND11):c.121_122del (p.Met41fs)
NM_001370100.5(ZMYND11):c.1687-1G>A rs2132045372
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001370100.5(ZMYND11):c.22C>T (p.Arg8Ter) rs1060499626
NM_001370100.5(ZMYND11):c.709C>T (p.Gln237Ter) rs2131744948
NM_001370100.5(ZMYND11):c.82C>T (p.Gln28Ter) rs1554767754
NM_001371596.2(MFSD8):c.754+1G>A rs868732642
NM_001371623.1(TCOF1):c.1330_1340del (p.Lys444fs) rs1763415490
NM_001371623.1(TCOF1):c.304+2T>A
NM_001371928.1(AHDC1):c.898dup (p.Leu300fs)
NM_001371986.1(UNC80):c.6646+1del rs2091489920
NM_001371986.1(UNC80):c.8771_8772del (p.Lys2924fs) rs1553621490
NM_001372044.2(SHANK3):c.2838C>G rs1001153999
NM_001372044.2(SHANK3):c.3649_3650del (p.Leu1217fs) rs1555910143
NM_001372044.2(SHANK3):c.3857_3858insG (p.Val1287fs) rs2083287837
NM_001372044.2(SHANK3):c.3904dup (p.Ala1302fs) rs762292772
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) rs886041238
NM_001372044.2(SHANK3):c.4690G>T (p.Asp1564Tyr) rs373588048
NM_001374353.1(GLI2):c.1555G>T (p.Glu519Ter) rs1682776554
NM_001374353.1(GLI2):c.2283del (p.Ala763fs) rs2105084620
NM_001374828.1(ARID1B):c.1492del (p.Ala498fs) rs1417035592
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter) rs1554294593
NM_001374828.1(ARID1B):c.5916dup (p.Ser1974fs) rs35441529
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs) rs1794490994
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001375380.1(EBF3):c.1429_1441del (p.Thr477fs) rs1064794961
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001375524.1(TRRAP):c.3104G>A (p.Arg1035Gln) rs2116495143
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.10975dup (p.Arg3659fs)
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His) rs397514481
NM_001378418.1(TCF20):c.3169_3170del (p.Glu1057fs) rs2147207137
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs) rs780252175
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs) rs1553403656
NM_001378454.1(ALMS1):c.5280del (p.His1761fs) rs2103785835
NM_001379200.1(TBX1):c.711+1G>A rs1731409120
NM_001379403.1(WDR26):c.390_412del (p.Leu132fs) rs2102930594
NM_001379500.1(COL18A1):c.3532_3533del (p.Gly1178fs) rs2037488871
NM_001384732.1(CPLANE1):c.8633-3T>A rs1561376157
NM_001384732.1(CPLANE1):c.8980del (p.Glu2993_Ile2994insTer)
NM_001385012.1(NBEA):c.4662+1G>C rs2070957033
NM_001385012.1(NBEA):c.5904-2A>G
NM_001388492.1(HTT):c.54GCA[30] (p.Gln38_Pro39insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_001393504.1(MAST3):c.1630G>A (p.Gly544Ser)
NM_001394372.1(BICRA):c.1163del (p.Pro388fs)
NM_001394998.1(TANC2):c.1048_1060dup (p.Leu354fs) rs2146269292
NM_001394998.1(TANC2):c.1938G>A (p.Trp646Ter)
NM_001394998.1(TANC2):c.2856C>A (p.Tyr952Ter) rs2147151004
NM_001394998.1(TANC2):c.3619G>T (p.Gly1207Ter) rs2048703168
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter) rs121909518
NM_001493.3(GDI1):c.1173_1174insACATGAT (p.Asp392delinsThrTer) rs2068757385
NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala)
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001759.4(CCND2):c.851T>A (p.Val284Glu) rs777786993
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) rs587777161
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) rs121912880
NM_001844.5(COL2A1):c.2094+1G>C rs2136552560
NM_001845.6(COL4A1):c.2153_2154dup (p.Asn719fs)
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg) rs1566351456
NM_001845.6(COL4A1):c.388-1G>C rs766209938
NM_001845.6(COL4A1):c.772G>T (p.Gly258Ter)
NM_001854.4(COL11A1):c.3816+1G>C rs398122828
NM_001904.4(CTNNB1):c.564dup (p.Met189fs) rs2125622579
NM_001904.4(CTNNB1):c.735-1G>A
NM_001904.4(CTNNB1):c.811del (p.Met271fs) rs2078160335
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter) rs886041281
NM_001913.5(CUX1):c.63+1G>A rs1791729069
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001943.5(DSG2):c.523+1G>A rs553299589
NM_001987.5(ETV6):c.775dup (p.Arg259fs)
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002016.2(FLG):c.7564C>T (p.Gln2522Ter)
NM_002024.6(FMR1):c.210_211dup (p.Ala71fs)
NM_002055.5(GFAP):c.1106T>C (p.Leu369Pro)
NM_002069.6(GNAI1):c.814G>A (p.Asp272Asn) rs2115712706
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.274G>A (p.Ala92Thr) rs1557889974
NM_002087.4(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002181.4(IHH):c.478C>T (p.Arg160Cys) rs1948842030
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.-8C>T rs2153222958
NM_002397.5(MEF2C):c.391C>T (p.Gln131Ter)
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs) rs80356676
NM_002693.3(POLG):c.2901_2907del (p.Met967fs)
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala) rs121908596
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_002875.5(RAD51):c.760C>T (p.Arg254Ter) rs199925463
NM_002878.4(RAD51D):c.346-1G>C rs1555568386
NM_002941.4(ROBO1):c.1342+1G>A rs2081036277
NM_002941.4(ROBO1):c.2630_2631del (p.Pro877fs) rs2107620759
NM_002941.4(ROBO1):c.2882+1G>T rs1706269517
NM_002941.4(ROBO1):c.4156G>T (p.Gly1386Ter) rs777460645
NM_002941.4(ROBO1):c.687C>G (p.Tyr229Ter) rs781328659
NM_002971.6(SATB1):c.1219G>C (p.Glu407Gln) rs2125208683
NM_003000.3(SDHB):c.713del (p.Phe238fs) rs876660642
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_003024.3(ITSN1):c.4248_4249del (p.Cys1417fs)
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg) rs1064795852
NM_003042.4(SLC6A1):c.336del (p.Gly112_Leu113insTer)
NM_003042.4(SLC6A1):c.888C>G (p.Tyr296Ter)
NM_003042.4:c.-153_(1078+1_1079-1)del
NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His) rs281875197
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003074.4(SMARCC1):c.1297C>T (p.Arg433Ter)
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter) rs55683010
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln) rs1799747454
NM_003194.5(TBP):c.215_216insGCAACAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCA (p.Gln95_Ala96insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_003194.5(TBP):c.225GCA[25] (p.Gln95_Ala96insGlnGlnGlnGlnGlnGln)
NM_003200.5(TCF3):c.1913C>G (p.Ser638Ter)
NM_003289.4(TPM2):c.463G>A (p.Ala155Thr) rs1563929039
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter) rs104893624
NM_003482.4(KMT2D):c.297del (p.Ser102fs) rs1938291650
NM_003482.4(KMT2D):c.8366+2T>G rs1943368267
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003560.4(PLA2G6):c.319del (p.Leu107fs) rs776376695
NM_003590.5(CUL3):c.641C>G (p.Ala214Gly) rs1692920727
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003620.4(PPM1D):c.1270dup (p.Glu424fs) rs1064797098
NM_003622.4(PPFIBP1):c.1146+1G>A rs2059916812
NM_003622.4(PPFIBP1):c.1300C>T (p.Gln434Ter) rs2140201554
NM_003622.4(PPFIBP1):c.1368_1369del (p.Glu456fs) rs2140228979
NM_003622.4(PPFIBP1):c.1417_1427del (p.Ala473fs) rs2140278432
NM_003622.4(PPFIBP1):c.1468C>T (p.Gln490Ter) rs2140279716
NM_003622.4(PPFIBP1):c.2158+2T>C rs1593356841
NM_003622.4(PPFIBP1):c.2629C>T (p.Arg877Ter) rs1363198922
NM_003622.4(PPFIBP1):c.2654del (p.Tyr885fs) rs2140520299
NM_003622.4(PPFIBP1):c.403C>T (p.Arg135Ter) rs143847599
NM_003660.4(PPFIA3):c.586_587del (p.Leu196fs)
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_003730.6(RNASET2):c.332+1G>T
NM_003738.5(PTCH2):c.1296_1305delinsCACCA (p.Val433fs) rs1573648653
NM_003738.5(PTCH2):c.1302_1305delinsACCA (p.Leu435Pro)
NM_003919.3(SGCE):c.810G>A (p.Trp270Ter) rs1562811414
NM_003931.3(WASF1):c.262G>T (p.Glu88Ter)
NM_003982.4(SLC7A7):c.254_255del (p.Phe85fs) rs386833813
NM_003995.4(NPR2):c.601C>T (p.Gln201Ter)
NM_003998.4(NFKB1):c.159+1G>A rs1741461840
NM_003998.4(NFKB1):c.522_525dup (p.Leu176Ter) rs1724875502
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) rs1578793312
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004006.3(DMD):c.4684del (p.Arg1562fs) rs2147473202
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter) rs863225001
NM_004006.3(DMD):c.5134C>T (p.Gln1712Ter) rs398123980
NM_004006.3(DMD):c.724C>T (p.Gln242Ter) rs128626238
NM_004006.3:c.(1602+1_1603-1)_(6438+1_6439-1)del
NM_004006.3:c.(6438+1_6439-1)_(6614+1_6615-1)del
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu) rs397514499
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004183.4(BEST1):c.551_552delinsT (p.Pro184fs)
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter) rs996949678
NM_004333.6(BRAF):c.1454T>G (p.Leu485Trp) rs397507475
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro) rs869025340
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050
NM_004360.5(CDH1):c.1565+1G>A rs587780113
NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp) rs886039491
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter) rs1464886350
NM_004415.4(DSP):c.313C>T (p.Arg105Ter) rs1435125402
NM_004415.4(DSP):c.4579_4582del (p.Asn1526_Lys1527insTer) rs2113694449
NM_004415.4(DSP):c.7097G>A (p.Arg2366His) rs387906618
NM_004456.5(EZH2):c.2235A>T (p.Glu745Asp) rs1563181538
NM_004463.3(FGD1):c.545del (p.Pro182fs) rs1922869724
NM_004481.5(GALNT2):c.865C>T (p.Gln289Ter) rs1665467473
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004523.4:c.(1217+1_1218-1)_(1494+1_1495-1)del
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) rs2051507892
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004562.3:c.(171+1_172-1)_(534+1_535_-1)del
NM_004603.4(STX1A):c.284-1G>A rs2116737208
NM_004612.4(TGFBR1):c.90_91delinsT (p.Ala31fs)
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter) rs1384748892
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg) rs1705222655
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249
NM_004727.3(SLC24A1):c.642dup (p.Thr215fs)
NM_004859.4(CLTC):c.187C>T (p.Arg63Ter) rs1598211790
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter) rs1984251749
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_004991.4(MECOM):c.627T>A (p.Tyr209Ter)
NM_005249.5(FOXG1):c.1082dup (p.Leu362fs) rs1555321405
NM_005249.5(FOXG1):c.1141del (p.Ala381fs) rs2138662009
NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter) rs138747073
NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter) rs786204999
NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter) rs786205000
NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter) rs1555321237
NM_005249.5(FOXG1):c.222_223dup (p.Pro75fs) rs2138660395
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.256dup (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs) rs587783635
NM_005249.5(FOXG1):c.298del (p.Gln100fs) rs587783636
NM_005249.5(FOXG1):c.385del (p.Glu129fs) rs2138660748
NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter) rs1057520663
NM_005249.5(FOXG1):c.430G>T (p.Glu144Ter) rs797045583
NM_005249.5(FOXG1):c.460del (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs) rs786205003
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.506dup (p.Lys170fs) rs1452295073
NM_005249.5(FOXG1):c.517G>T (p.Glu173Ter) rs2138661070
NM_005249.5(FOXG1):c.537C>G (p.Tyr179Ter) rs1555321301
NM_005249.5(FOXG1):c.543G>C (p.Lys181Asn) rs767961672
NM_005249.5(FOXG1):c.545C>A (p.Pro182Gln) rs796052461
NM_005249.5(FOXG1):c.552dup (p.Ser185fs) rs786205004
NM_005249.5(FOXG1):c.559A>G (p.Asn187Asp) rs2138661139
NM_005249.5(FOXG1):c.561C>A (p.Asn187Lys) rs796052462
NM_005249.5(FOXG1):c.565C>T (p.Leu189Phe) rs1555321308
NM_005249.5(FOXG1):c.586C>T (p.Gln196Ter) rs796052463
NM_005249.5(FOXG1):c.590G>T (p.Ser197Ile) rs1881802605
NM_005249.5(FOXG1):c.592_594del (p.Pro198del) rs2138661203
NM_005249.5(FOXG1):c.604C>T (p.Leu202Phe)
NM_005249.5(FOXG1):c.611_618del (p.Leu204fs) rs2138661224
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.651C>G (p.Tyr217Ter) rs796052464
NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro) rs786205008
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) rs786205009
NM_005249.5(FOXG1):c.732_741del (p.His245fs) rs1555321345
NM_005249.5(FOXG1):c.735del (p.Tyr246fs) rs2138661448
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter) rs587783642
NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter) rs121913678
NM_005249.5(FOXG1):c.921C>G (p.Tyr307Ter) rs2138661742
NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter) rs267606827
NM_005249.5(FOXG1):c.969del (p.Ser323fs) rs786205011
NM_005249.5(FOXG1):c.974dup (p.Leu325fs) rs2138661811
NM_005321.3(H1-4):c.365dup (p.Ala123fs) rs768525914
NM_005321.3(H1-4):c.441dup (p.Lys148fs) rs1131690806
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005360.5(MAF):c.197C>T (p.Ser66Leu)
NM_005444.3(CNOT9):c.874C>T (p.Arg292Trp)
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005499.3(UBA2):c.649+1G>A
NM_005559.4(LAMA1):c.2932_2933delinsG (p.Lys978fs)
NM_005573.4(LMNB1):c.97A>G (p.Lys33Glu) rs1750497172
NM_005618.4(DLL1):c.2013_2014del (p.Glu673fs) rs1583151308
NM_005618.4(DLL1):c.552C>G (p.Tyr184Ter)
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.1626C>A (p.Tyr542Ter) rs140601882
NM_005629.4(SLC6A8):c.1659C>A (p.Tyr553Ter)
NM_005645.4(TAF13):c.119T>A (p.Met40Lys) rs1060505029
NM_005645.4(TAF13):c.92T>A (p.Leu31His) rs1060505030
NM_005660.3(SLC35A2):c.634_635del (p.Ser212fs) rs1602338615
NM_005850.5(SF3B4):c.417C>T (p.Gly139=)
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005857.5(ZMPSTE24):c.50del (p.Lys17fs) rs281875360
NM_005859.5(PURA):c.116del (p.Gly39fs)
NM_005859.5(PURA):c.159del (p.Leu54fs)
NM_005859.5(PURA):c.235C>T (p.Gln79Ter) rs2126748843
NM_005859.5(PURA):c.307_308del (p.Ser103fs) rs587782992
NM_005859.5(PURA):c.407_420dup (p.Ala142fs) rs1561793219
NM_005859.5(PURA):c.677_678del (p.Val226fs) rs1064796830
NM_005859.5(PURA):c.723_736dup (p.Val246fs)
NM_005881.4(BCKDK):c.50_71del (p.Leu17fs) rs2143936992
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val) rs387906854
NM_005909.5(MAP1B):c.2079_2082del (p.Lys694fs)
NM_005909.5(MAP1B):c.3794C>A (p.Ser1265Ter)
NM_005957.5(MTHFR):c.475+1G>T rs748397580
NM_005993.5(TBCD):c.1006C>T (p.Gln336Ter)
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs) rs763677869
NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter) rs150465110
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu) rs137853047
NM_006009.4(TUBA1A):c.701T>G (p.Ile234Ser) rs1942171599
NM_006015.6(ARID1A):c.284del (p.Gly95fs)
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter) rs368213921
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006121.4(KRT1):c.1432G>C (p.Glu478Gln) rs59089201
NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp) rs28942095
NM_006186.4(NR4A2):c.325dup (p.Gln109fs) rs774629025
NM_006186.4(NR4A2):c.706C>T (p.Gln236Ter)
NM_006204.4(PDE6C):c.1669C>T (p.Arg557Ter) rs781699886
NM_006214.4(PHYH):c.336del (p.Pro113fs)
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006265.3(RAD21):c.660del (p.Phe220fs)
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter) rs1250214380
NM_006306.4(SMC1A):c.2076del (p.Lys692fs) rs2146599361
NM_006421.5(ARFGEF1):c.5320C>T (p.Arg1774Ter) rs1838287933
NM_006421.5(ARFGEF1):c.996_1005del (p.Val333fs)
NM_006494.4(ERF):c.697C>T (p.Arg233Ter) rs2036401878
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.115-2A>G rs2124450950
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) rs1131691283
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys) rs1555535156
NM_006565.4(CTCF):c.1117C>G (p.His373Asp) rs2142847326
NM_006565.4(CTCF):c.1130G>A (p.Arg377His) rs968244943
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu) rs2142847512
NM_006565.4(CTCF):c.1186dup (p.Arg396fs) rs879255571
NM_006565.4(CTCF):c.1343G>A (p.Arg448Gln) rs2142849782
NM_006565.4(CTCF):c.148dup (p.Val50fs) rs2142823841
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.292_293del (p.Leu98fs) rs2142824576
NM_006565.4(CTCF):c.329dup (p.Gly111fs) rs2052056650
NM_006565.4(CTCF):c.375dup (p.Val126fs) rs879255570
NM_006565.4(CTCF):c.615_618del (p.Lys206fs) rs1555534147
NM_006565.4(CTCF):c.688del (p.Glu230fs) rs2142826656
NM_006565.4(CTCF):c.773_776del (p.Lys258fs) rs1567608876
NM_006565.4(CTCF):c.804_805del (p.Cys268_Glu269delinsTer) rs2142828055
NM_006586.5(CNPY3):c.548del (p.Asn183fs)
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860
NM_006662.3(SRCAP):c.2298_2300+3del
NM_006662.3(SRCAP):c.5633dup (p.Pro1879fs) rs748467821
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter) rs1555465891
NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter) rs2150884950
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.3269dup (p.Asn1090fs) rs2151190684
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3408+1G>C rs1554122402
NM_006772.3(SYNGAP1):c.3583-9G>A rs1554122689
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006796.3(AFG3L2):c.1402C>T (p.Arg468Cys) rs1020764190
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_006852.6(TLK2):c.1121+1G>A rs2146617330
NM_006852.6(TLK2):c.1415del (p.Gln472fs)
NM_006852.6(TLK2):c.1865del (p.Leu622fs)
NM_006852.6(TLK2):c.36del (p.Gln13fs) rs2144334211
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter) rs1591909421
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn) rs74315515
NM_006941.4(SOX10):c.941C>A (p.Ser314Ter) rs1932142815
NM_007059.4(KPTN):c.714_731dup (p.Gln246_Asp247insMetTrpSerValLeuGln) rs587777148
NM_007118.4(TRIO):c.1732-1G>C
NM_007118.4(TRIO):c.298del (p.Arg100fs) rs1735893497
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007118.4(TRIO):c.5491_5496+12del
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) rs876659519
NM_007194.4(CHEK2):c.909-49_1095+51del
NM_007194.4:c.(908+1_909-1)_(1095+1_1096-1)del
NM_007217.4(PDCD10):c.418G>T (p.Glu140Ter) rs1719762092
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.4(BRCA1):c.1127del (p.Asn376fs) rs80357821
NM_007294.4(BRCA1):c.1261G>T (p.Glu421Ter) rs80357046
NM_007294.4(BRCA1):c.1340_1341insG (p.His448fs) rs80357597
NM_007294.4(BRCA1):c.1497_1509del (p.Asn500fs) rs886039954
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.4(BRCA1):c.1728dup (p.Glu577fs) rs397507192
NM_007294.4(BRCA1):c.1793T>A (p.Leu598Ter) rs80357118
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs) rs80357526
NM_007294.4(BRCA1):c.195del (p.Asn66fs) rs80357869
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter) rs41286296
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.3243_3288dup (p.Ser1097delinsCysTyrAlaTer) rs1555588016
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter) rs80357006
NM_007294.4(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.4(BRCA1):c.3307_3308insC (p.Cys1103fs) rs1555587988
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs) rs80357727
NM_007294.4(BRCA1):c.4064dup (p.Asn1355fs) rs2053475644
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter) rs886040218
NM_007294.4(BRCA1):c.4533_4534del (p.His1511fs) rs80357534
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs) rs80357833
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
NM_007294.4:c.(441+1_442-1)_(547+1_548-1)del
NM_007325.5(GRIA3):c.1957G>T (p.Ala653Ser)
NM_007327.4(GRIN1):c.1950C>A (p.Asn650Lys) rs771610568
NM_007327.4(GRIN1):c.2209G>A (p.Glu737Lys)
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012309.5(SHANK2):c.2533C>T (p.Arg845Ter) rs2058867660
NM_012330.4(KAT6B):c.2598G>A (p.Arg866=) rs1842975561
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) rs886041207
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) rs1554843815
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) rs121908379
NM_012479.4(YWHAG):c.124C>T (p.Arg42Ter) rs2115589147
NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys) rs1583981736
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_013275.6(ANKRD11):c.160C>T (p.Arg54Ter) rs749607205
NM_013275.6(ANKRD11):c.1742_1743del (p.Ser580_Ser581insTer) rs2151762916
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2297_2300del (p.Lys766fs) rs2034487965
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2516_2517del (p.Asp839fs)
NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs) rs1064794330
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs) rs2151753260
NM_013275.6(ANKRD11):c.4381_4384del (p.Lys1461fs) rs2034307984
NM_013275.6(ANKRD11):c.4396_4397del (p.Arg1466fs) rs2151750068
NM_013275.6(ANKRD11):c.5438_5439insT (p.Gln1813fs) rs2034195455
NM_013352.4(DSE):c.874C>T (p.Gln292Ter)
NM_013436.5(NCKAP1):c.2111del (p.Pro704fs)
NM_014112.5(TRPS1):c.3160del (p.Ser1054fs)
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034
NM_014334.4(FRRS1L):c.431del (p.Val144fs) rs1831271059
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014489.4(PGAP2):c.479A>G (p.Tyr160Cys) rs879255232
NM_014516.4(CNOT3):c.1892_1893del (p.Asp630_Ser631insTer)
NM_014516.4(CNOT3):c.286C>T (p.Arg96Ter)
NM_014516.4(CNOT3):c.929_939del (p.Ser310fs) rs2146638782
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) rs1166261279
NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter) rs1057519283
NM_014727.3(KMT2B):c.6413dup (p.Ala2139fs) rs754806477
NM_014795.4(ZEB2):c.1309C>T (p.Gln437Ter) rs760437173
NM_014795.4(ZEB2):c.2177_2178del (p.Ser726fs) rs1703269824
NM_014795.4(ZEB2):c.71del (p.Asn24fs) rs1553971826
NM_014806.5(RUSC2):c.3235+2T>A
NM_014874.4(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014905.5(GLS):c.241C>T (p.Gln81Ter) rs1559310284
NM_014905.5(GLS):c.695dup (p.Asp232fs) rs1558971345
NM_014905.5(GLS):c.815G>A (p.Arg272Lys) rs1558972120
NM_014927.5(CNKSR2):c.1979G>A (p.Trp660Ter)
NM_014927.5(CNKSR2):c.1988_1989del (p.Arg663fs) rs2092480172
NM_014927.5(CNKSR2):c.2336C>G (p.Ser779Ter) rs2147283343
NM_014927.5(CNKSR2):c.548_551del (p.Lys183fs) rs2147143428
NM_014927.5(CNKSR2):c.742-1G>A
NM_014946.4(SPAST):c.1276C>G (p.Leu426Val) rs1060502227
NM_014946.4(SPAST):c.1417C>T (p.Gln473Ter) rs757130394
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014975.3(MAST1):c.580GAG[1] (p.Glu195del) rs1568408280
NM_015001.3(SPEN):c.2104C>T (p.Arg702Ter) rs2071187754
NM_015001.3(SPEN):c.3682_3686del (p.Lys1228fs)
NM_015001.3(SPEN):c.4943_4944insTA (p.Glu1648fs)
NM_015001.3(SPEN):c.9031C>T (p.Arg3011Ter)
NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter) rs865909396
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015030.2(FRYL):c.1224del (p.Lys409fs)
NM_015030.2(FRYL):c.3568_3569insTT (p.Lys1190fs)
NM_015057.5(MYCBP2):c.3983_3984del (p.Gly1328fs)
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.1679-2A>G
NM_015100.4(POGZ):c.1725del (p.Leu576fs)
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) rs1554504684
NM_015215.4(CAMTA1):c.578del (p.Gly193fs)
NM_015295.3(SMCHD1):c.3276_3276+4del rs1555642277
NM_015331.3(NCSTN):c.1101_1101+17delinsTGTCCA
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter) rs139063441
NM_015335.5(MED13L):c.57del (p.Asn20fs)
NM_015335.5(MED13L):c.760_1175+967del
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.4048C>T (p.Gln1350Ter) rs763386297
NM_015355.4(SUZ12):c.348_351del (p.Tyr117fs) rs1598143986
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter) rs1427624649
NM_015443.4(KANSL1):c.2692_2693del (p.Leu898fs) rs2077066093
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015559.3(SETBP1):c.1082_1083dup (p.Phe362fs) rs2071314703
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015559.3(SETBP1):c.334del (p.Arg112fs)
NM_015570.4(AUTS2):c.1298del (p.Leu433fs) rs1057518198
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter) rs1057517708
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_015570.4:c.(690+1_691-1)_(742+1_743-1)del
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_015898.4(ZBTB7A):c.98del (p.Leu33fs)
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016239.4(MYO15A):c.812G>A (p.Trp271Ter)
NM_016302.4(CRBN):c.835+1G>A rs1226252969
NM_016333.4(SRRM2):c.4583_4584del (p.Val1528fs)
NM_016333.4(SRRM2):c.5653C>T (p.Arg1885Ter)
NM_016333.4(SRRM2):c.7748_7758del (p.Thr2583fs)
NM_016341.4(PLCE1):c.3768del (p.Asn1257fs)
NM_016373.4(WWOX):c.184G>T (p.Gly62Ter) rs775696083
NM_016373.4:c.(516+1_517-1)_(605+1_606-1)del
NM_016648.4(LARP7):c.1045_1051dup (p.Ser351Ter) rs2149267795
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs) rs775657157
NM_016648.4(LARP7):c.834dup (p.Arg279fs) rs763929099
NM_017551.3(GRID1):c.1948G>A (p.Ala650Thr)
NM_017721.5(CC2D1A):c.2693del (p.Gly898fs) rs1423002835
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017780.4(CHD7):c.1665+1G>A
NM_017780.4(CHD7):c.2515C>T (p.Gln839Ter)
NM_017780.4(CHD7):c.463C>T (p.Gln155Ter) rs1809042353
NM_017780.4(CHD7):c.6272G>A (p.Trp2091Ter) rs1805529214
NM_017780.4(CHD7):c.7297del (p.Val2433fs) rs1064793972
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017849.4(TMEM127):c.410-1G>C
NM_017934.7(PHIP):c.1879+1G>A
NM_017934.7(PHIP):c.3110C>A (p.Ser1037Ter) rs1767424632
NM_017934.7(PHIP):c.3297_3298del (p.Phe1100fs)
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.8098C>T (p.Arg2700Ter) rs730882076
NM_018426.3(TMEM63B):c.130G>A (p.Val44Met)
NM_018671.5(UNC45A):c.-98G>T
NM_018671.5(UNC45A):c.766dup (p.Ala256fs) rs766346918
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys) rs121434591
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020312.4(COQ9):c.679_680del (p.Met227fs)
NM_020436.5(SALL4):c.131-2del rs1568866374
NM_020451.3(SELENON):c.1282-13G>A
NM_020451.3(SELENON):c.1387+1G>A rs2047977957
NM_020451.3(SELENON):c.1446del (p.Asn483fs) rs2124454648
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020699.4(GATAD2B):c.1419+1G>A rs1674353589
NM_020699.4(GATAD2B):c.895C>T (p.Gln299Ter) rs1674512996
NM_020706.2(SCAF4):c.1471C>T (p.Arg491Ter)
NM_020706.2(SCAF4):c.1669dup (p.Tyr557fs)
NM_020745.4(AARS2):c.2611dup (p.Thr871fs) rs749666514
NM_020791.4(TAOK1):c.136C>T (p.Arg46Ter)
NM_020791.4(TAOK1):c.1507C>T (p.Gln503Ter)
NM_020791.4(TAOK1):c.1576-2A>T
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1420C>A (p.Arg474Ser) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020919.4(ALS2):c.1250C>G (p.Ser417Ter)
NM_020975.6(RET):c.1901G>C (p.Cys634Ser) rs75996173
NM_020975.6(RET):c.1901G>T (p.Cys634Phe) rs75996173
NM_020988.3(GNAO1):c.510del (p.Thr171fs)
NM_021072.4(HCN1):c.1171G>T (p.Gly391Cys)
NM_021072.4(HCN1):c.1562G>T (p.Gly521Val) rs1745671912
NM_021224.6(ZNF462):c.1975C>T (p.Gln659Ter)
NM_021224.6(ZNF462):c.220+1G>A rs2131431481
NM_021224.6(ZNF462):c.3700C>T (p.Arg1234Ter) rs2131488835
NM_021619.3(PRDM12):c.516G>C (p.Glu172Asp) rs755205487
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_022080.3(NAPB):c.173G>A (p.Trp58Ter) rs1984959750
NM_022124.6(CDH23):c.9389_9390del (p.Pro3130fs) rs2133006702
NM_022132.5(MCCC2):c.1216+2T>A rs1554138265
NM_022132.5(MCCC2):c.913G>T (p.Glu305Ter) rs1746873504
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) rs557166582
NM_022455.5(NSD1):c.3796+1_3796+6del
NM_022455.5(NSD1):c.6206_6209del (p.Val2069fs) rs1759550773
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022575.4(VPS16):c.559C>T (p.Arg187Ter) rs754351705
NM_022893.4(BCL11A):c.1663A>T (p.Met555Leu) rs770356174
NM_022893.4(BCL11A):c.759_769del (p.Leu254fs)
NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup) rs387906321
NM_024298.5(MBOAT7):c.423del (p.Leu142fs) rs886041059
NM_024408.4(NOTCH2):c.6877del (p.His2293fs) rs1649047546
NM_024496.4(IRF2BPL):c.2102del (p.Asn701fs)
NM_024496.4(IRF2BPL):c.280_308del (p.Ala94fs)
NM_024496.4(IRF2BPL):c.496G>T (p.Glu166Ter) rs2139976004
NM_024513.4(FYCO1):c.2386C>T (p.Gln796Ter)
NM_024529.5(CDC73):c.131+1del
NM_024577.4(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs) rs1580900758
NM_024589.3(ROGDI):c.507del (p.Glu170fs) rs786205124
NM_024589.3(ROGDI):c.532-2A>T rs786205119
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.212-2A>C rs730881879
NM_024675.4(PALB2):c.2235del (p.Ala746fs) rs1966858562
NM_024675.4(PALB2):c.2470dup (p.Cys824fs) rs863224521
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.2982dup (p.Ala995fs) rs180177127
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024757.5(EHMT1):c.1501+1del rs2136274853
NM_024757.5(EHMT1):c.3012_3016del (p.Pro1005fs) rs2137714332
NM_024757.5(EHMT1):c.575_581del (p.Pro192fs) rs2135511963
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter) rs1474604202
NM_024757.5(EHMT1):c.756dup (p.Phe253fs) rs1554852664
NM_024884.3(L2HGDH):c.1115del (p.Met372fs) rs786200869
NM_024989.4(PGAP1):c.1501-2A>G rs1288514578
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.6135+1G>A rs2035114607
NM_025137.4:c.(5866+1_5867-1)_(6477+1_6478-1)del
NM_030632.3(ASXL3):c.2127del (p.Leu710fs)
NM_030632.3(ASXL3):c.4365_4389del (p.Pro1456_Pro1457insTer)
NM_030665.4(RAI1):c.2396dup (p.Gly800fs) rs2032191929
NM_031475.3(ESPN):c.1916-1G>C rs1643944047
NM_031844.3(HNRNPU):c.1230+1G>C rs2102987091
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.2258-1G>A rs1064793887
NM_032043.3(BRIP1):c.2571dup (p.Ser858fs)
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.3(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs) rs1443687532
NM_032108.4(SEMA6B):c.2067_2070delinsAGCA (p.Trp689_Ala690delinsTer)
NM_032217.5(ANKRD17):c.3751_3754del (p.Asn1251fs) rs1726649573
NM_032217.5(ANKRD17):c.5360_5363del (p.Gln1787fs) rs2110167415
NM_033100.4(CDHR1):c.849C>A (p.Tyr283Ter)
NM_033380.3(COL4A5):c.1516+1G>C
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_052874.5(STX1B):c.354+1G>C
NM_057175.5(NAA15):c.139+1G>A
NM_057175.5(NAA15):c.1754-2A>G rs1748397238
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter) rs1270628305
NM_058216.2:c.(235+1_236-1)_(*120_?)del
NM_058216.3(RAD51C):c.525dup (p.Cys176fs) rs768793789
NM_058216.3(RAD51C):c.572-3C>G rs1567794089
NM_078629.4(MSL3):c.547C>T (p.Gln183Ter)
NM_078629.4(MSL3):c.973_974del (p.Gln326fs)
NM_080546.5(SLC44A1):c.377_380del (p.Ser126fs) rs1826893287
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs) rs886044584
NM_080680.3(COL11A2):c.2086del (p.Glu696fs)
NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn) rs1555794286
NM_130811.4(SNAP25):c.596C>A (p.Ala199Glu)
NM_130837.3(OPA1):c.1734dup (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.2051C>G (p.Ser684Ter) rs2109138909
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter) rs1488795500
NM_130839.5(UBE3A):c.2567_2568del (p.Lys856fs) rs587781231
NM_130839.5(UBE3A):c.63G>A (p.Met21Ile)
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_134261.3(RORA):c.731dup (p.Cys245fs)
NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter) rs587777698
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_138576.4(BCL11B):c.1770_1771del (p.Lys591fs) rs1886445034
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys) rs1085307451
NM_138694.3:c.(?_5909)_(12225_?)del
NM_138711.6(PPARG):c.221-1G>C
NM_138711.6(PPARG):c.530-1G>A rs2125252529
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.4(SON):c.3617_3618del (p.Glu1206fs) rs2145829543
NM_138927.4(SON):c.4897_4900del (p.Thr1633fs)
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) rs1365611175
NM_139058.3(ARX):c.370G>T (p.Glu124Ter) rs2147324296
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln) rs113994136
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys) rs193922721
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) rs587777164
NM_139318.5(KCNH5):c.998G>A (p.Arg333His) rs1383017734
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145246.5(FRA10AC1):c.481C>T (p.Arg161Ter)
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser) rs606231437
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) rs370717845
NM_152515.5(CKAP2L):c.1822+1G>A rs1680053234
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.4997del (p.Thr1666fs) rs2133808512
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152641.4(ARID2):c.4540_4541delinsGAA (p.Thr1514fs) rs2138180455
NM_170606.3(KMT2C):c.1829_1830del (p.Thr610fs) rs1588573059
NM_170675.5(MEIS2):c.977+2T>G rs2141389679
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg) rs2081071796
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met) rs118192219
NM_172107.4(KCNQ2):c.1160dup (p.Leu388fs) rs796052657
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs) rs118192222
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1741_1747delinsAGGCAAGAGCCCCGCCTGCCTGTCCAGCAGGGGACAAGAACGGGGTGGGCTTCTGGGAC (p.Ile582fs)
NM_172107.4(KCNQ2):c.1756C>T (p.Gln586Ter)
NM_172107.4(KCNQ2):c.2118del (p.Ala707fs)
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.757G>T (p.Ala253Ser) rs1057516093
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172362.3(KCNH1):c.1069C>T (p.Arg357Trp) rs2102561827
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) rs730882175
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_177559.3(CSNK2A1):c.139C>T (p.Arg47Ter)
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_178014.4(TUBB):c.895A>G (p.Met299Val) rs587777355
NM_178172.6(GPIHBP1):c.52+2T>C
NM_181458.4(PAX3):c.232G>A (p.Val78Met)
NM_181458.4(PAX3):c.238C>T (p.His80Tyr)
NM_181523.3(PIK3R1):c.1892G>A (p.Arg631Gln) rs515726149
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181552.4(CUX1):c.1576del (p.Ser526fs) rs2131983329
NM_181552.4(CUX1):c.1593del (p.Met532fs)
NM_181552.4(CUX1):c.190-2A>G
NM_181552.4(CUX1):c.3556C>T (p.Gln1186Ter)
NM_181552.4(CUX1):c.3563G>A (p.Trp1188Ter)
NM_181552.4(CUX1):c.538C>T (p.Gln180Ter)
NM_182931.3(KMT2E):c.1710dup (p.Lys571fs)
NM_182931.3(KMT2E):c.1944_1948del (p.Lys649fs)
NM_182961.4(SYNE1):c.8885del (p.Val2962fs) rs750544827
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_194454.3(KRIT1):c.158del (p.Leu53fs)
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198503.5(KCNT2):c.569G>A (p.Arg190His) rs1572547466
NM_198503.5(KCNT2):c.569G>C (p.Arg190Pro) rs1572547466
NM_198880.3(QRICH1):c.1147_1150del (p.Leu383fs) rs1376687924
NM_198880.3(QRICH1):c.1258C>T (p.Gln420Ter) rs2106903534
NM_198880.3(QRICH1):c.1292dup (p.Pro432fs) rs2106903309
NM_198880.3(QRICH1):c.136del (p.Gln46fs) rs2106983258
NM_198880.3(QRICH1):c.1378C>T (p.Gln460Ter) rs1559931177
NM_198880.3(QRICH1):c.138_139delinsTT (p.Gln46_Gln47delinsHisTer) rs1553747119
NM_198880.3(QRICH1):c.1531C>T (p.Arg511Ter) rs746059690
NM_198880.3(QRICH1):c.1606C>T (p.Arg536Ter) rs1559930732
NM_198880.3(QRICH1):c.1626del (p.Tyr543fs) rs2106863052
NM_198880.3(QRICH1):c.1787-2A>G rs2106814058
NM_198880.3(QRICH1):c.1812_1813del (p.Glu605fs) rs2093252843
NM_198880.3(QRICH1):c.1896-2A>G rs2106812365
NM_198880.3(QRICH1):c.1953dup (p.Arg652fs) rs1553738605
NM_198880.3(QRICH1):c.1954C>T (p.Arg652Ter) rs1236702036
NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter) rs2106802170
NM_198880.3(QRICH1):c.46C>T (p.Arg16Ter) rs763953500
NM_198880.3(QRICH1):c.541C>T (p.Gln181Ter) rs2106906600
NM_198880.3(QRICH1):c.823C>T (p.Gln275Ter) rs2106905360
NM_198880.3(QRICH1):c.832_833del (p.Ser278fs) rs2093408575
NM_198880.3(QRICH1):c.985del (p.His329fs) rs2106904799
NM_198904.4(GABRG2):c.471del (p.Ala158fs) rs1554097890
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp) rs796052510
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) rs587776625
NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln) rs1553122926
NM_205861.3(DHDDS):c.698C>G (p.Pro233Arg)
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6223del (p.Trp2075fs)
NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter) rs2102458475
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_207037.2(TCF12):c.812C>A (p.Ser271Ter) rs554037047
NM_207122.2(EXT2):c.1179del (p.Trp394fs) rs1955074882
NM_207122.2(EXT2):c.477_478insATTAACCAGAACACACTGCG (p.Leu160fs)
NM_213649.2(SFXN4):c.233del (p.Pro78fs) rs398124642
NM_213649.2(SFXN4):c.471+1G>A rs367932369
NR_003137.3(RNU4-2):n.64_65insT
Single allele
UGT1A1*28 rs3064744
der(6)t(6;7)(p25.3;q32.3)

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