ClinVar Miner

List of variants reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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ClinVar version:
Total variants: 2275
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
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_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_183065.4(TMEM107):c.*759C>T rs201787275 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_003060.4(SLC22A5):c.-149G>A rs57262206 0.00144
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
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_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
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_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619 0.00064
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
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_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) rs201747279 0.00019
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000329.3(RPE65):c.11+5G>A rs61751276 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_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs) rs762606406 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324 0.00013
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_001029871.4(RSPO4):c.79+1G>A rs775644973 0.00012
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter) rs61758444 0.00011
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) rs121912646 0.00011
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_007059.4(KPTN):c.776C>A (p.Ser259Ter) rs374298314 0.00011
NM_016630.7(SPG21):c.118C>T (p.Arg40Ter) rs555126484 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_176824.3(BBS7):c.968A>G (p.His323Arg) rs119466001 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052 0.00008
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln) rs375305567 0.00008
NM_004614.5(TK2):c.388C>T (p.Arg130Trp) rs281865493 0.00008
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter) rs121908613 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_025243.4(SLC19A3):c.980-14A>G rs200542114 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter) rs199636364 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000314.8(PTEN):c.802-2A>T rs587782455 0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205 0.00005
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384 0.00005
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter) rs560339163 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) rs768933093 0.00005
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550 0.00005
NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter) rs756134516 0.00005
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg) rs567130416 0.00005
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro) rs527800020 0.00005
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr) rs119103283 0.00005
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000350.3(ABCA4):c.4773+3A>G rs759672616 0.00004
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp) rs61750643 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp) rs753641926 0.00004
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) rs146591309 0.00004
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) rs587781948 0.00004
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter) rs745308973 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_017775.4(TTC19):c.656T>G (p.Leu219Ter) rs747166010 0.00004
NM_018122.5(DARS2):c.536G>A (p.Arg179His) rs121918210 0.00004
NM_020191.4(MRPS22):c.878+1G>T rs775354826 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_145207.3(AFG2A):c.2531C>T (p.Ala844Val) rs796051892 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.538C>T (p.Gln180Ter) rs730881333 0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val) rs121964979 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000358.3(TGFBI):c.371G>A (p.Arg124His) rs121909211 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250 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.3276C>A (p.Tyr1092Ter) rs121908761 0.00003
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) rs45517340 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001145026.2(PTPRQ):c.6475C>T (p.Arg2159Ter) rs1445287184 0.00003
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His) rs63751001 0.00003
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn) rs374258471 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003104.6(SORD):c.328C>T (p.Arg110Ter) rs745509632 0.00003
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp) rs376054085 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala) rs587777222 0.00003
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter) rs140277700 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter) rs745582203 0.00003
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765 0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 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_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe) rs1482760341 0.00002
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter) rs387907268 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053 0.00002
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg) rs781227859 0.00002
NM_001298.3(CNGA3):c.830G>A (p.Arg277His) rs778114016 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001346754.2(PIGW):c.460A>G (p.Arg154Gly) rs1256773607 0.00002
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) rs63750424 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter) rs553968959 0.00002
NM_002637.4(PHKA1):c.1039C>T (p.Gln347Ter) rs782062618 0.00002
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg) rs587779351 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004318.4(ASPH):c.2181_2183dup (p.Trp728Ter) rs765610535 0.00002
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_015072.5(TTLL5):c.2029C>T (p.Arg677Ter) rs138370992 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter) rs878855122 0.00002
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser) rs781565158 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_032409.3(PINK1):c.502G>C (p.Ala168Pro) rs768091663 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_170682.4(P2RX2):c.1057G>A (p.Gly353Arg) rs202138002 0.00002
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys) rs760544654 0.00002
NM_201548.5(CERKL):c.1012C>T (p.Arg338Ter) rs748394238 0.00002
NC_000006.12:g.99593111G>C rs1554264613 0.00001
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) rs777849257 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs) rs80359490 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs) rs80359616 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) rs1057518917 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter) rs779475367 0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213 0.00001
NM_000197.2(HSD17B3):c.607-1G>A rs730880305 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715 0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030 0.00001
NM_000301.5(PLG):c.988A>G (p.Lys330Glu) rs889957249 0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000330.4(RS1):c.221G>T (p.Gly74Val) rs104894933 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000350.3(ABCA4):c.1239+1G>C rs765707028 0.00001
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.5018+2T>C rs61750562 0.00001
NM_000350.3(ABCA4):c.5196+1G>A rs61751377 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6386+2C>G rs61753043 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) rs371277428 0.00001
NM_000404.4(GLB1):c.699del (p.Gln234fs) rs1452318343 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter) rs754522209 0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs) rs727504167 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter) rs369937337 0.00001
NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) rs77078070 0.00001
NM_001032386.2(SUOX):c.1097G>A (p.Arg366His) rs776690106 0.00001
NM_001042492.3(NF1):c.1307C>A (p.Ser436Ter) rs755190083 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.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.2510G>A (p.Trp837Ter) rs1348129244 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5812+332A>G rs863224491 0.00001
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp) rs111706634 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001077365.2(POMT1):c.280+1G>T rs746823238 0.00001
NM_001077620.3(PRCD):c.52C>T (p.Arg18Ter) rs527451635 0.00001
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met) rs267607050 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631 0.00001
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter) rs137853189 0.00001
NM_001142800.2(EYS):c.634C>T (p.Gln212Ter) rs371915861 0.00001
NM_001142800.2(EYS):c.7943del (p.Thr2648fs) rs1477705832 0.00001
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn) rs1211856182 0.00001
NM_001160148.2(DDHD1):c.1031T>A (p.Leu344Ter) rs1886606157 0.00001
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter) rs762607878 0.00001
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys) rs121909391 0.00001
NM_001201543.2(FAM161A):c.1034_1035insC (p.Leu346fs) rs1413863796 0.00001
NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) rs267606794 0.00001
NM_001242957.3(MAK):c.639C>A (p.Cys213Ter) rs143572116 0.00001
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs) rs397517376 0.00001
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter) rs753333359 0.00001
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs) rs1347618037 0.00001
NM_001297.5(CNGB1):c.2759G>A (p.Trp920Ter) rs1304758484 0.00001
NM_001298.3(CNGA3):c.1021T>C (p.Ser341Pro) rs1227761587 0.00001
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) rs762081862 0.00001
NM_001372044.2(SHANK3):c.2455+1G>A rs1396379503 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001386393.1(PANK2):c.243del (p.Ser81fs) rs916725028 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His) rs780953863 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter) rs775365939 0.00001
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter) rs771007945 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter) rs121908490 0.00001
NM_004727.3(SLC24A1):c.172C>T (p.Gln58Ter) rs1289546006 0.00001
NM_004820.5(CYP7B1):c.187C>T (p.Arg63Ter) rs746979262 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_006070.6(TFG):c.317G>A (p.Arg106His) rs376971794 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_006567.5(FARS2):c.1256G>A (p.Arg419His) rs202183509 0.00001
NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter) rs267608678 0.00001
NM_007055.4(POLR3A):c.91C>T (p.Gln31Ter) rs546487084 0.00001
NM_007059.4(KPTN):c.692del (p.Val231fs) rs1332315502 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205 0.00001
NM_007217.4(PDCD10):c.474+5G>A rs1553759139 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.4222C>T (p.Gln1408Ter) rs80356989 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) rs80356730 0.00001
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) rs80356721 0.00001
NM_013254.4(TBK1):c.992+1G>A rs1341055534 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter) rs955766374 0.00001
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015107.3(PHF8):c.1615C>T (p.Gln539Ter) rs1557101975 0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter) rs899399494 0.00001
NM_016247.4(IMPG2):c.676G>T (p.Glu226Ter) rs932467788 0.00001
NM_016580.4(PCDH12):c.451C>T (p.Arg151Ter) rs1175979418 0.00001
NM_018082.6(POLR3B):c.2413C>T (p.Arg805Ter) rs1437442253 0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_020944.3(GBA2):c.700C>T (p.Arg234Ter) rs398123013 0.00001
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_022575.4(VPS16):c.1903C>T (p.Arg635Ter) rs1422519039 0.00001
NM_024339.5(THOC6):c.139C>T (p.Gln47Ter) rs578012528 0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932 0.00001
NM_024577.4(SH3TC2):c.530-2A>T rs80338920 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024989.4(PGAP1):c.691C>T (p.Arg231Ter) rs1364192556 0.00001
NM_025099.6(CTC1):c.670C>T (p.Arg224Ter) rs1169567839 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759 0.00001
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp) rs1391712320 0.00001
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) rs116840778 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys) rs397509419 0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter) rs768412580 0.00001
NM_178857.6(RP1L1):c.1122G>A (p.Trp374Ter) rs1205382497 0.00001
NM_182961.4(SYNE1):c.24814C>T (p.Arg8272Ter) rs761433022 0.00001
NM_183075.3(CYP2U1):c.1396C>T (p.Arg466Ter) rs766380148 0.00001
NM_198428.3(BBS9):c.263+1G>A rs137962929 0.00001
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124 0.00001
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter) rs754533434 0.00001
GRCh38/hg38 15q11.2(chr15:22542702-23121344)x1
GRCh38/hg38 16q24.3(chr16:89764796-89811592)x1
GRCh38/hg38 17q11.2(chr17:31155962-31163396)x1
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3
GRCh38/hg38 1q21.1-21.2(chr1:146387442-148577050)x3
GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3
GRCh38/hg38 2q37.1(chr2:232154529-232177529)x0
GRCh38/hg38 7q11.23(chr7:73247356-74727974)x3
GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0
NC_000007.14:g.156791257G>A
NC_000022.11:g.42615396C>T
NC_000023.10:g.102632399_103221016del
NC_012920.1(MT-ATP6):m.8993T>C rs199476133
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NC_012920.1(MT-ATP6):m.9176T>C rs199476135
NC_012920.1(MT-ATP6):m.9176T>G rs199476135
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NC_012920.1(MT-CO1):m.7444G>A rs199474822
NC_012920.1(MT-ND1):m.3460G>A rs199476118
NC_012920.1(MT-ND1):m.3946G>A rs199476123
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND5):m.13513G>A rs267606897
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1(MT-TS1):m.7471dup rs111033319
NC_012920.1(MT-TW):m.5537_5538insT rs199474672
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser) rs63749806
NM_000021.4(PSEN1):c.625G>C (p.Gly209Arg) rs63749880
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe) rs63750248
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.4(PSEN1):c.854C>T (p.Ala285Val) rs63751139
NM_000033.4(ABCD1):c.1045del (p.Val349fs) rs2091726859
NM_000033.4(ABCD1):c.104del (p.Leu35fs) rs2091703332
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1849C>G (p.Arg617Gly) rs4010613
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter) rs1304001811
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
NM_000037.4(ANK1):c.4040_4041del (p.Met1347fs)
NM_000037.4(ANK1):c.607dup (p.Ser203fs) rs1830528981
NM_000038.6(APC):c.1863_1866del (p.Tyr622fs) rs1764719091
NM_000038.6(APC):c.266C>G (p.Ser89Ter) rs876658846
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3497_3501del (p.Lys1165_Tyr1166insTer) rs1554085053
NM_000038.6(APC):c.3925_3928del (p.Glu1309fs) rs876659647
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs) rs387906234
NM_000038.6(APC):c.4954del (p.Ser1652fs)
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000043.6(FAS):c.334+2T>C
NM_000044.6(AR):c.1531A>T (p.Arg511Ter)
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys) rs1925886715
NM_000044.6(AR):c.2359C>T (p.Arg787Ter) rs1555997580
NM_000046.5(ARSB):c.1577del (p.Thr526fs) rs1554069660
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter) rs1565383766
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter) rs1555092430
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.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.468G>A (p.Trp156Ter) rs1591475457
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.4(ATM):c.8137_8138insC (p.Arg2713fs) rs2086690343
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8695del (p.Ile2899fs) rs1555142816
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1029del (p.Lys343fs) rs80359260
NM_000059.4(BRCA2):c.1238del (p.Leu413fs) rs80359271
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1499del (p.Gly500fs) rs397507591
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.2437_2444del (p.Ile813fs) rs2072457571
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.4409_4413del (p.Ile1470fs) rs397507718
NM_000059.4(BRCA2):c.4415_4418del (p.Lys1472fs) rs397507333
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter) rs80358783
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5890A>T (p.Lys1964Ter) rs1555284445
NM_000059.4(BRCA2):c.6405_6408del (p.Asn2135fs) rs398122556
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
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.6682dup (p.Val2228fs) rs80359621
NM_000059.4(BRCA2):c.67+1G>A rs81002796
NM_000059.4(BRCA2):c.67+1G>T rs81002796
NM_000059.4(BRCA2):c.6761_6762del (p.Phe2254fs) rs80359624
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7543del (p.Thr2515fs) rs80359657
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter) rs80359004
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8800del (p.Gln2934fs) rs886040793
NM_000059.4(BRCA2):c.8935A>T (p.Lys2979Ter) rs2072903033
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.89_90insGT (p.Asn30fs) rs2072284385
NM_000059.4(BRCA2):c.92_93insAA (p.Trp31Ter) rs2072284495
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter) rs80359205
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs) rs786203318
NM_000059.4(BRCA2):c.9376C>T (p.Gln3126Ter) rs80359210
NM_000059.4(BRCA2):c.9403del rs80359760
NM_000059.4(BRCA2):c.9455_9456del (p.Glu3152fs) rs80359764
NM_000059.4(BRCA2):c.9455_9456dup (p.Gly3153fs) rs80359764
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000071.3(CBS):c.19del (p.Gln7fs) rs748695461
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000088.4(COL1A1):c.253_286del (p.Glu85fs) rs1907920572
NM_000088.4(COL1A1):c.3164G>A (p.Gly1055Asp) rs1906761196
NM_000088.4(COL1A1):c.351dup (p.Gly118fs)
NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter) rs587779479
NM_000093.5(COL5A1):c.1364del (p.Lys455fs) rs1564418237
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) rs28936368
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
NM_000107.3(DDB2):c.730_733del (p.Lys243_Lys244insTer) rs1336484333
NM_000111.3(SLC26A3):c.1312-1G>T rs386833449
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs) rs1057517530
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000117.3(EMD):c.282C>A (p.Tyr94Ter) rs1557182431
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000135.4(FANCA):c.[2316+1_2316+3del];[2778+1G>A]
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.5830_5831dup (p.Asn1944fs) rs2043151619
NM_000138.5(FBN1):c.5905del (p.Arg1969fs) rs1566898399
NM_000138.5(FBN1):c.6151dup (p.Arg2051fs)
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter) rs112550005
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser) rs113935744
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr) rs121918508
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.937G>T (p.Glu313Ter) rs863224001
NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn) rs2056023296
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000156.6(GAMT):c.[1A>G];[327G>A]
NM_000161.3(GCH1):c.626+1G>A rs1555358507
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000165.5(GJA1):c.75G>C (p.Trp25Cys) rs1773898476
NM_000166.6(GJB1):c.35del (p.Gly12fs) rs2092542021
NM_000166.6(GJB1):c.508_551dup (p.Thr185fs) rs2092545197
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) rs121917714
NM_000168.6(GLI3):c.2647G>T (p.Glu883Ter) rs1787185991
NM_000171.4(GLRA1):c.910A>G (p.Lys304Glu) rs121918412
NM_000174.5(GP9):c.70T>C (p.Cys24Arg) rs28933378
NM_000179.3(MSH6):c.1188_1189del (p.Tyr397fs)
NM_000179.3(MSH6):c.1767del (p.Pro591fs) rs1114167765
NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter) rs587782593
NM_000179.3(MSH6):c.2969T>A (p.Leu990Ter) rs1669533825
NM_000179.3(MSH6):c.3173-1_3173del rs587779256
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3579dup (p.Leu1194fs) rs1669960668
NM_000179.3(MSH6):c.3776_3777insAACA (p.Asn1259fs)
NM_000179.3(MSH6):c.883A>T (p.Lys295Ter)
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.826del (p.Leu276fs) rs2151799674
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000195.5(HPS1):c.1090dup (p.Leu364fs) rs2136156603
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000206.3(IL2RG):c.270-15A>G rs886039387
NM_000213.5(ITGB4):c.600dup (p.Phe201fs) rs752657203
NM_000214.3(JAG1):c.1729_1732dup (p.Cys578Ter)
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000217.3(KCNA1):c.677C>T (p.Thr226Met) rs28933383
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) rs397508127
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000222.3(KIT):c.237del (p.Asn80fs)
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg) rs199472842
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.4(KCNH2):c.2616del (p.Gly873fs)
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.4(KCNH2):c.418del (p.Ser140fs) rs2117011793
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.[2080A>G];[2177T>C]
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu) rs63750726
NM_000249.4(MLH1):c.912dup (p.Val305fs)
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1831_1846del (p.Val611fs) rs1667236103
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter) rs782234944
NM_000256.3(MYBPC3):c.1383_1384dup (p.Asp462fs) rs2095890455
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) rs375607980
NM_000256.3(MYBPC3):c.913_914delTT rs397516080
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu) rs397516153
NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs) rs2135345560
NM_000260.4(MYO7A):c.1829_1832dup (p.Ser611_Ser612insTer) rs2135406725
NM_000260.4(MYO7A):c.1973del (p.Tyr658fs)
NM_000260.4(MYO7A):c.2028C>G (p.Tyr676Ter)
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.397del (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.535_536del (p.Ser179fs)
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) rs780609120
NM_000260.4(MYO7A):c.6089del (p.Thr2030fs) rs2135784410
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter) rs1555622441
NM_000264.5(PTCH1):c.2179del (p.Cys727fs) rs1840277125
NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter) rs766313615
NM_000264.5(PTCH1):c.2506G>T (p.Glu836Ter) rs78708791
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.5(PTCH1):c.3094_3095del (p.Ile1032fs) rs1839105353
NM_000264.5(PTCH1):c.579C>A (p.Tyr193Ter) rs1333346461
NM_000266.4(NDP):c.112C>T (p.Arg38Cys) rs758550101
NM_000267.3(NF1):c.206_207delGA rs1060500321
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000273.3(GPR143):c.232G>A (p.Asp78Asn) rs62635024
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter) rs121965058
NM_000276.4(OCRL):c.2414dup (p.Tyr805Ter) rs1936552283
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) rs76492282
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000283.4(PDE6B):c.1060-1G>T rs863223339
NM_000283.4(PDE6B):c.2395C>T (p.Arg799Ter) rs970990957
NM_000283.4(PDE6B):c.863_864del (p.Asp288fs) rs1412122281
NM_000284.4(PDHA1):c.1025_1032del (p.Val342fs) rs2063244869
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs) rs1555934859
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000292.3(PHKA2):c.1969C>T (p.Gln657Ter)
NM_000297.4(PKD2):c.1047dup (p.Val350fs) rs1578130597
NM_000297.4(PKD2):c.1340_1346dup (p.Gly450fs)
NM_000297.4(PKD2):c.2050_2053del (p.Tyr684fs)
NM_000297.4(PKD2):c.2274_2275dup (p.Phe759fs) rs1560626561
NM_000310.4(PPT1):c.346del (p.Gln116fs) rs1649593824
NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) rs74315403
NM_000314.8(PTEN):c.226dup (p.Tyr76fs)
NM_000314.8(PTEN):c.392dup (p.Gly132fs) rs1859976874
NM_000314.8(PTEN):c.436_437insG (p.Leu146fs)
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.748_751dup (p.Gly251fs) rs780264945
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273
NM_000321.3(RB1):c.1039dup (p.Ser347fs)
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1212del (p.Phe404fs)
NM_000321.3(RB1):c.13del (p.Thr5fs)
NM_000321.3(RB1):c.1723C>T (p.Gln575Ter) rs587778864
NM_000322.5(PRPH2):c.273T>G (p.Tyr91Ter)
NM_000322.5(PRPH2):c.318del (p.Leu107fs) rs1761913048
NM_000322.5(PRPH2):c.463_467dup (p.Asp157fs) rs2152010923
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.760del (p.Leu254fs) rs1800111025
NM_000322.5(PRPH2):c.911_912dup (p.Gly305fs) rs1377137374
NM_000322.5(PRPH2):c.920del (p.Leu307fs) rs61748433
NM_000322.5(PRPH2):c.934del (p.Val312fs) rs1799986608
NM_000322.5(PRPH2):c.945del (p.Trp316fs) rs2152003822
NM_000326.5(RLBP1):c.255_258dup (p.Arg87fs) rs2051588436
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) rs988133284
NM_000330.4(RS1):c.199_206dup (p.Gly70fs) rs1927824776
NM_000330.4(RS1):c.266A>G (p.Tyr89Cys) rs61752060
NM_000330.4(RS1):c.372_373insTAGCCAGTGG (p.Ile125Ter) rs2147191359
NM_000330.4(RS1):c.418G>A (p.Gly140Arg) rs61752156
NM_000330.4(RS1):c.422G>A (p.Arg141His) rs61752159
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000330.4(RS1):c.608C>T (p.Pro203Leu) rs104894930
NM_000330.4(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000330.4(RS1):c.626G>A (p.Arg209His) rs281865362
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000335.5(SCN5A):c.1978C>T (p.Gln660Ter)
NM_000335.5(SCN5A):c.3992C>T (p.Pro1331Leu) rs199473225
NM_000335.5(SCN5A):c.809_812dup (p.Phe272fs) rs2125910371
NM_000338.3(SLC12A1):c.[1154_1157dup];[2770C>T]
NM_000346.4(SOX9):c.1081C>T (p.Gln361Ter) rs1255573826
NM_000346.4(SOX9):c.475_485del (p.Glu159fs) rs1908140880
NM_000349.3(STAR):c.33del (p.Ser12fs) rs1802653591
NM_000349.3(STAR):c.8_9del (p.Leu3fs) rs1802654548
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter) rs61752390
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter) rs61751410
NM_000350.3(ABCA4):c.1344del (p.Met448fs) rs61748554
NM_000350.3(ABCA4):c.1442del (p.Phe481fs) rs2101101226
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter) rs1057517700
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) rs865990202
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter) rs1660843703
NM_000350.3(ABCA4):c.2829del (p.Pro944fs) rs1660702616
NM_000350.3(ABCA4):c.291_292del (p.Tyr97_Asn98delinsTer)
NM_000350.3(ABCA4):c.296dup (p.Asn99fs) rs62645948
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs) rs886044735
NM_000350.3(ABCA4):c.3510del (p.Gly1172fs)
NM_000350.3(ABCA4):c.3856_3859del (p.Phe1286fs) rs1660348024
NM_000350.3(ABCA4):c.4200C>A (p.Tyr1400Ter)
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.4693A>T (p.Lys1565Ter)
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs) rs1057518955
NM_000350.3(ABCA4):c.5461-10T>G
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.985G>T (p.Gly329Ter) rs1199849243
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs) rs118203597
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000374.5(UROD):c.203_207dup (p.Leu70Ter) rs1644819425
NM_000377.3(WAS):c.464-11T>G
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000381.4(MID1):c.1102C>T (p.Arg368Ter) rs2147287460
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000390.4(CHM):c.1370T>C (p.Leu457Pro) rs2148153507
NM_000390.4(CHM):c.1512T>A (p.Tyr504Ter)
NM_000390.4(CHM):c.1644G>A (p.Trp548Ter) rs1924195176
NM_000390.4(CHM):c.224G>A (p.Trp75Ter) rs1931440274
NM_000390.4(CHM):c.262_263dup (p.Ser89fs) rs1931435688
NM_000390.4(CHM):c.315-4587T>A rs1930707138
NM_000390.4(CHM):c.525_526del (p.Glu177fs) rs886041177
NM_000390.4(CHM):c.703dup (p.Leu235fs) rs2147667670
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) rs527236048
NM_000397.4(CYBB):c.1075G>A (p.Gly359Arg)
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) rs72555367
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) rs58852768
NM_000424.4(KRT5):c.502G>A (p.Glu168Lys) rs58619430
NM_000435.3(NOTCH3):c.1261C>T (p.Arg421Cys) rs1555729068
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr) rs1555729486
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs) rs773656789
NM_000435.3(NOTCH3):c.751T>C (p.Cys251Arg) rs1568361608
NM_000440.3(PDE6A):c.1843C>T (p.Gln615Ter) rs1752223896
NM_000440.3(PDE6A):c.816T>A (p.Cys272Ter) rs1754021035
NM_000444.6(PHEX):c.2071-2A>G rs1936359447
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000451.4(SHOX):c.349C>T (p.Gln117Ter) rs2052711401
NM_000451.4(SHOX):c.99del (p.Thr34fs) rs2124154297
NM_000454.5(SOD1):c.272A>T (p.Asp91Val)
NM_000465.4(BARD1):c.1394T>A (p.Leu465Ter) rs1370053894
NM_000487.6(ARSA):c.378G>A (p.Trp126Ter) rs2082689270
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter) rs2071372283
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000503.6(EYA1):c.1611T>A (p.Cys537Ter)
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.743del (p.Leu248fs) rs2140324174
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.126C>A (p.Tyr42Ter)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000528.4(MAN2B1):c.1664C>G (p.Ser555Ter) rs376719984
NM_000528.4(MAN2B1):c.1694del (p.Leu565fs)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000529.2(MC2R):c.767C>T (p.Ser256Phe) rs1256103643
NM_000530.8(MPZ):c.112del (p.Val38fs) rs2102260140
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) rs879254038
NM_000532.5(PCCB):c.155_183+17del rs1941483558
NM_000533.5(PLP1):c.754del (p.Val252fs)
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter) rs863224496
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) rs28933395
NM_000539.3(RHO):c.196A>T (p.Lys66Ter) rs2108749253
NM_000539.3(RHO):c.269G>A (p.Gly90Asp) rs104893790
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) rs104893779
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000540.3(RYR1):c.8046_8064dup (p.Lys2689delinsLeuTer) rs1970341946
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000548.5(TSC2):c.1224del (p.Phe408fs)
NM_000548.5(TSC2):c.1720A>T (p.Lys574Ter) rs2088115626
NM_000548.5(TSC2):c.2623dup (p.Tyr875fs)
NM_000548.5(TSC2):c.4908_4912del (p.Asp1636fs)
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.880G>A (p.Gly294Arg) rs45517139
NM_000554.6(CRX):c.239A>C (p.Glu80Ala) rs104894671
NM_000554.6(CRX):c.501dup (p.Glu168fs) rs1968166700
NM_000693.4(ALDH1A3):c.550del (p.Leu184fs)
NM_000702.4(ATP1A2):c.2278del (p.Glu760fs)
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) rs777676129
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_000875.5(IGF1R):c.2477_2480dup (p.Glu829fs)
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn) rs121912550
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp) rs104894579
NM_000969.5(RPL5):c.143_146del (p.Lys48fs) rs1687002124
NM_000969.5(RPL5):c.236del (p.Tyr79fs)
NM_000969.5(RPL5):c.402dup (p.Ile135fs) rs1687120632
NM_001003694.2(BRPF1):c.1102del (p.Phe367_Leu368insTer) rs2076993987
NM_001003694.2(BRPF1):c.1542dup (p.Cys515fs) rs2077001976
NM_001003694.2(BRPF1):c.2459_2460del (p.Lys820fs) rs2077071992
NM_001003694.2(BRPF1):c.2844dup (p.Lys949fs)
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2291dup (p.Asn765fs) rs1956120566
NM_001005242.3(PKP2):c.869G>A (p.Trp290Ter) rs2137947204
NM_001005242.3(PKP2):c.968_975del (p.Gln323fs) rs1555148032
NM_001005273.3(CHD3):c.20_21del (p.Val7fs)
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly) rs267606929
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1504del (p.Glu502fs)
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.1933G>T (p.Glu645Ter) rs2080110445
NM_001008537.3(NEXMIF):c.1961C>A (p.Ser654Ter) rs267606511
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln) rs1555446576
NM_001009944.3(PKD1):c.11693_11702dup (p.Leu3902fs)
NM_001009944.3(PKD1):c.796C>T (p.Gln266Ter)
NM_001009944.3(PKD1):c.8804_8805del (p.Leu2934_Ser2935insTer)
NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs) rs587776751
NM_001012614.2(CTBP1):c.991C>T (p.Arg331Trp) rs869320802
NM_001017420.3(ESCO2):c.457del (p.Arg153fs) rs1804802146
NM_001017979.3(RAB28):c.247_248dup (p.Tyr84fs)
NM_001018115.3(FANCD2):c.1948-16T>G rs2087653225
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter) rs397515537
NM_001024630.4(RUNX2):c.1208dup (p.Val404fs) rs1802418386
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001029883.3(PCARE):c.1541del (p.Pro514fs) rs1667513233
NM_001029883.3(PCARE):c.2704A>T (p.Lys902Ter) rs1667483876
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.2966del (p.Pro989fs) rs770881706
NM_001029883.3(PCARE):c.2966dup (p.Val990fs) rs770881706
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.776_777del (p.Glu259fs) rs1572829514
NM_001029896.2(WDR45):c.766_794del (p.Asp257fs) rs1569523457
NM_001029896.2(WDR45):c.798_817del (p.Lys267fs) rs2065030680
NM_001029896.2(WDR45):c.872_873insCCGT (p.Asp292fs) rs2065029325
NM_001029896.2(WDR45):c.908del (p.Pro303fs) rs2147814841
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001032221.6(STXBP1):c.103_119del (p.Gln35fs)
NM_001032221.6(STXBP1):c.1079del (p.Gly360fs) rs1841614275
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_001032221.6(STXBP1):c.1176del (p.Ile393fs) rs1841724942
NM_001032221.6(STXBP1):c.1392del (p.Lys465fs) rs2131521957
NM_001032221.6(STXBP1):c.1644del (p.Asn548fs) rs1842045865
NM_001032221.6(STXBP1):c.1702+1G>A rs796053377
NM_001032221.6(STXBP1):c.57_59del (p.Ile19_Lys20delinsMet) rs1057519538
NM_001032221.6(STXBP1):c.785del (p.Asp262fs) rs1841291126
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs) rs2067448565
NM_001034853.2(RPGR):c.1281_1282del (p.Leu428fs) rs2067408614
NM_001034853.2(RPGR):c.1836del (p.Asn612fs) rs2067201253
NM_001034853.2(RPGR):c.1932_1933insC (p.Gly645fs) rs2147200451
NM_001034853.2(RPGR):c.2167del (p.Arg723fs) rs2067190976
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter) rs907856232
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter) rs983693027
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs) rs1555961832
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs) rs2067179633
NM_001034853.2(RPGR):c.2501del (p.Glu834fs) rs2067178120
NM_001034853.2(RPGR):c.2548G>T (p.Glu850Ter) rs1601922074
NM_001034853.2(RPGR):c.2610_2611del (p.Glu872fs)
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs) rs2067166789
NM_001034853.2(RPGR):c.2679_2680del (p.Glu894fs) rs2147195624
NM_001034853.2(RPGR):c.2689G>T (p.Glu897Ter) rs2067161460
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs) rs1601920532
NM_001034853.2(RPGR):c.2785dup (p.Glu929fs) rs2067155200
NM_001034853.2(RPGR):c.2792del (p.Glu931fs)
NM_001034853.2(RPGR):c.2845del (p.Glu949fs) rs2067148119
NM_001034853.2(RPGR):c.2939del (p.Glu980fs)
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs) rs1569235565
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter) rs2067127275
NM_001034853.2(RPGR):c.3070G>T (p.Glu1024Ter) rs1799325384
NM_001034853.2(RPGR):c.3081_3082del (p.Glu1028fs) rs1601918140
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648
NM_001034853.2(RPGR):c.3364del (p.Met1122fs)
NM_001034853.2(RPGR):c.379del (p.Arg127fs) rs2067877633
NM_001034853.2(RPGR):c.779-5T>G rs2067565504
NM_001034853.2(RPGR):c.843dup (p.Glu282Ter)
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) rs794728708
NM_001038603.3(MARVELD2):c.1331+2T>C rs772048719
NM_001039591.3(USP9X):c.2147del (p.Asn716fs) rs2062676091
NM_001040142.2(SCN2A):c.1119del (p.Leu375fs) rs1697569199
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4633A>G (p.Met1545Val) rs796053150
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001042424.3(NSD2):c.28dup (p.Leu10fs)
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro) rs1555611004
NM_001042492.3(NF1):c.1152dup (p.Arg385fs)
NM_001042492.3(NF1):c.1404del (p.Phe468fs)
NM_001042492.3(NF1):c.1417_1418insG (p.Thr473fs)
NM_001042492.3(NF1):c.1473T>A (p.Tyr491Ter)
NM_001042492.3(NF1):c.1548del (p.Glu517fs)
NM_001042492.3(NF1):c.1667_1670del (p.Asp556fs) rs1135402819
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1845G>A (p.Lys615=) rs1131691080
NM_001042492.3(NF1):c.1929_1948del (p.Met643fs)
NM_001042492.3(NF1):c.1953_1969del (p.Arg652fs)
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.205-1G>C rs1555605362
NM_001042492.3(NF1):c.2127T>A (p.Cys709Ter) rs2067018146
NM_001042492.3(NF1):c.2152del (p.Asp718fs)
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
NM_001042492.3(NF1):c.2331_2365del (p.Trp777_Lys789delinsTer) rs2067037428
NM_001042492.3(NF1):c.2409+1G>A rs1555614022
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.338del (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3567del (p.Gly1190fs) rs1060500271
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter) rs2067145586
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3974+1G>C rs1567852849
NM_001042492.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.4561dup (p.Tyr1521fs)
NM_001042492.3(NF1):c.4567dup (p.Ser1523fs) rs2067665969
NM_001042492.3(NF1):c.4700C>A (p.Ser1567Ter) rs1555619051
NM_001042492.3(NF1):c.4873_4874dup (p.His1626fs) rs1555533284
NM_001042492.3(NF1):c.4892del (p.Thr1630_Leu1631insTer) rs1555533290
NM_001042492.3(NF1):c.5046_5047insG (p.Asn1683fs)
NM_001042492.3(NF1):c.512del (p.Asn171fs)
NM_001042492.3(NF1):c.5287C>T (p.Gln1763Ter) rs2069375606
NM_001042492.3(NF1):c.5301del (p.Glu1768fs)
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter) rs786202177
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6819+3A>G rs1555534966
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6932_6933del (p.Leu2311fs) rs2151561476
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7232_7233del (p.Arg2411fs) rs2151572602
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7372A>T (p.Arg2458Ter)
NM_001042492.3(NF1):c.7458-1G>A rs1597862012
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.976_979dup (p.Leu327fs)
NM_001042492.3(NF1):c.998dup (p.Tyr333Ter) rs2066508538
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001077350.3(NPRL3):c.1149del (p.Ala384fs) rs2141907691
NM_001079668.3(NKX2-1):c.626G>C (p.Arg209Pro)
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) rs1555349209
NM_001079872.2(CUL4B):c.2139_2140del (p.Leu714fs) rs1923640463
NM_001080517.3(SETD5):c.1333C>T (p.Arg445Ter) rs886039432
NM_001080517.3(SETD5):c.2216_2217del (p.Leu739fs) rs2042266753
NM_001080517.3(SETD5):c.2359C>T (p.Gln787Ter) rs2042899128
NM_001080517.3(SETD5):c.3016del (p.Val1006fs) rs2045208860
NM_001080517.3(SETD5):c.3172dup (p.Gln1058fs) rs1197870764
NM_001080517.3(SETD5):c.3512C>G (p.Ser1171Ter)
NM_001080517.3(SETD5):c.3856del (p.Ser1286fs) rs587777329
NM_001080517.3(SETD5):c.670del (p.Gln224fs) rs2041149106
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1249del (p.Asp417fs) rs2145500473
NM_001083962.2(TCF4):c.1295_1296del (p.Gly432fs) rs2056279996
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val) rs1568303352
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001083962.2(TCF4):c.1899dup (p.Ala634fs) rs2046922813
NM_001083962.2(TCF4):c.879del (p.Ser294fs)
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001110556.2(FLNA):c.6250dup (p.Ile2084fs) rs2067631656
NM_001110792.2(MECP2):c.1080_1125del (p.Ser361fs) rs2065928811
NM_001110792.2(MECP2):c.1134_1237del (p.His378fs)
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1199_1215del (p.Pro400fs) rs267608601
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1490_*12del (p.Val497fs) rs2065899494
NM_001110792.2(MECP2):c.245_246insA (p.Ala83fs) rs2065987178
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.52_59del (p.Glu18fs) rs2066904707
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
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.942del (p.Ile315fs) rs267608548
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111125.3(IQSEC2):c.1399C>T (p.Gln467Ter) rs2074437028
NM_001111125.3(IQSEC2):c.1510del (p.Gln504fs) rs2074383291
NM_001111125.3(IQSEC2):c.4264_4265del (p.Gln1422fs) rs2147000956
NM_001122764.3(PPOX):c.420del (p.Glu141fs)
NM_001123385.2(BCOR):c.2428C>T (p.Arg810Ter) rs1555918056
NM_001126108.2(SLC12A3):c.[1315G>A];[2856+1G>T]
NM_001127178.3(PIGG):c.1163G>A (p.Trp388Ter) rs1560330387
NM_001127222.2(CACNA1A):c.1560T>G (p.Tyr520Ter) rs1431177448
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1972dup (p.Met658fs)
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter) rs1064795856
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.1999G>A (p.Glu667Lys) rs2057842904
NM_001127222.2(CACNA1A):c.2290C>T (p.Gln764Ter)
NM_001127222.2(CACNA1A):c.2312del (p.Lys771fs) rs2057740525
NM_001127222.2(CACNA1A):c.3072dup (p.Arg1025fs)
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4430G>A (p.Gly1477Asp) rs2056602306
NM_001127222.2(CACNA1A):c.4434del (p.Ser1479fs) rs2056602254
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) rs121908220
NM_001127222.2(CACNA1A):c.5238dup (p.Leu1747fs)
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001128126.3(AP4S1):c.138+3_138+6del rs876661295
NM_001128228.3(TPRN):c.301G>T (p.Glu101Ter)
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs) rs1564844428
NM_001134407.3(GRIN2A):c.2660del (p.Leu887fs) rs1900820269
NM_001142800.2(EYS):c.1052C>A (p.Ser351Ter)
NM_001142800.2(EYS):c.1603del (p.Cys535fs) rs2150313808
NM_001142800.2(EYS):c.2854del (p.Cys952fs) rs779877426
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.5098A>T (p.Lys1700Ter)
NM_001142800.2(EYS):c.5666del (p.Tyr1889fs)
NM_001142800.2(EYS):c.6174T>G (p.Tyr2058Ter) rs1769471082
NM_001142800.2(EYS):c.7923del (p.Gly2642fs)
NM_001142800.2(EYS):c.8648_8649del (p.Thr2883fs) rs1768382090
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142966.3(GREB1L):c.1975C>T (p.Gln659Ter)
NM_001142966.3(GREB1L):c.2614_2615del (p.Leu872fs)
NM_001142966.3(GREB1L):c.4992T>A (p.Tyr1664Ter)
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001145358.2(SIN3A):c.1160dup (p.Leu388fs) rs2073603561
NM_001145358.2(SIN3A):c.1609C>T (p.Arg537Ter) rs757034687
NM_001151.4(SLC25A4):c.239G>A (p.Arg80His) rs886041081
NM_001162501.2(TNRC6B):c.1660del (p.Gln554fs)
NM_001162501.2(TNRC6B):c.16C>T (p.Gln6Ter) rs2146471012
NM_001164508.2(NEB):c.3084C>G (p.Tyr1028Ter) rs2099402392
NM_001164508.2(NEB):c.3726dup (p.Ser1243fs) rs2154209614
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys) rs121918784
NM_001166114.2(PNPLA6):c.3265C>T (p.Arg1089Ter) rs562113164
NM_001166114.2(PNPLA6):c.459del (p.Glu153fs) rs2146050043
NM_001170629.2(CHD8):c.1351A>T (p.Arg451Ter) rs1435998081
NM_001170629.2(CHD8):c.1540G>T (p.Glu514Ter) rs1555318013
NM_001170629.2(CHD8):c.3638del (p.Gly1213fs) rs1888105256
NM_001170629.2(CHD8):c.4871G>A (p.Trp1624Ter) rs1555314122
NM_001170629.2(CHD8):c.5389C>T (p.Arg1797Ter) rs1887710442
NM_001170629.2(CHD8):c.5488C>T (p.Arg1830Cys)
NM_001171.6(ABCC6):c.2738_2739del (p.Pro913fs)
NM_001172509.2(SATB2):c.1225C>T (p.Gln409Ter) rs1688106559
NM_001172509.2(SATB2):c.1756C>T (p.Gln586Ter) rs1559136245
NM_001172509.2(SATB2):c.550A>T (p.Lys184Ter) rs1689734840
NM_001172509.2(SATB2):c.553G>T (p.Glu185Ter) rs1689734633
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001174147.2(LMX1B):c.640A>T (p.Lys214Ter)
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val) rs375491094
NM_001184880.2(PCDH19):c.1565del (p.Asn522fs) rs2147538462
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) rs34651888
NM_001195553.2(DCX):c.176G>A (p.Arg59His) rs122457137
NM_001197104.2(KMT2A):c.10153_10154del (p.Leu3385fs) rs1950576481
NM_001197104.2(KMT2A):c.10322del (p.Thr3441fs) rs1950580068
NM_001197104.2(KMT2A):c.10816G>T (p.Glu3606Ter) rs1950607117
NM_001197104.2(KMT2A):c.3337A>T (p.Lys1113Ter)
NM_001197104.2(KMT2A):c.3340del (p.Ser1114fs) rs1950068661
NM_001197104.2(KMT2A):c.3424C>T (p.Gln1142Ter)
NM_001197104.2(KMT2A):c.3933dup (p.Thr1312fs) rs1950141836
NM_001197104.2(KMT2A):c.5887C>T (p.Arg1963Ter) rs1950445312
NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter) rs1555046568
NM_001197104.2(KMT2A):c.7841del (p.Ser2614fs) rs1950538709
NM_001197104.2(KMT2A):c.8874del (p.Glu2960fs)
NM_001199397.3(NEK1):c.[1226G>A];[1948del]
NM_001201543.2(FAM161A):c.1294G>T (p.Glu432Ter) rs1672928309
NM_001201543.2(FAM161A):c.1460del (p.Arg487fs) rs1672919182
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001242957.3(MAK):c.475del (p.Tyr159fs) rs2127564759
NM_001242957.3(MAK):c.7_10dup (p.Tyr4fs)
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) rs151344629
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys) rs180177452
NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys) rs180177470
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001256789.3(CACNA1F):c.1044del (p.Trp349fs)
NM_001256789.3(CACNA1F):c.157C>T (p.Gln53Ter)
NM_001256789.3(CACNA1F):c.2928+1G>A rs2147908102
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3500del (p.Pro1167fs)
NM_001257180.2(SLC20A2):c.1399C>T (p.Arg467Ter) rs1563452873
NM_001257180.2(SLC20A2):c.185T>C (p.Leu62Pro)
NM_001257180.2(SLC20A2):c.290-8A>G
NM_001267550.2(TTN):c.106070_106071del (p.Tyr35357fs)
NM_001267550.2(TTN):c.31034_31035del (p.Asp10344_Tyr10345insTer) rs2073645237
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter) rs1440093502
NM_001270508.2(TNFAIP3):c.2185dup (p.Ser729fs)
NM_001270508.2(TNFAIP3):c.547C>T (p.Arg183Ter) rs1423560438
NM_001271.4(CHD2):c.1652_1653dup (p.Phe552fs) rs886041628
NM_001271.4(CHD2):c.2666G>A (p.Trp889Ter) rs2053935397
NM_001271.4(CHD2):c.3571C>T (p.Gln1191Ter) rs2054139802
NM_001271.4(CHD2):c.982C>T (p.Gln328Ter) rs1085307766
NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg) rs111033578
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_001282531.3(ADNP):c.1652_1653del (p.Asp551fs) rs1980971358
NM_001282531.3(ADNP):c.1666C>T (p.Gln556Ter) rs1980968803
NM_001282531.3(ADNP):c.1807_1808dup (p.Pro604fs) rs2122749829
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2187del (p.Lys729fs) rs1555809987
NM_001282531.3(ADNP):c.2327dup (p.Asn776fs) rs1980870018
NM_001282531.3(ADNP):c.2387G>A (p.Trp796Ter) rs2122743549
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg) rs121908332
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001288705.3(CSF1R):c.2308G>C (p.Ala770Pro) rs281860271
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr) rs281860274
NM_001291415.2(KDM6A):c.1579C>T (p.Gln527Ter) rs2044282736
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter) rs2044403163
NM_001292034.3(TAB2):c.872_873del (p.Thr291fs) rs1781498987
NM_001298.3(CNGA3):c.1231del (p.Ala411fs)
NM_001298.3(CNGA3):c.1443dup (p.Ile482fs)
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.1749del (p.Leu584fs) rs2104250161
NM_001298.3(CNGA3):c.271C>T (p.Gln91Ter)
NM_001298.3(CNGA3):c.489_492del (p.Ser164fs) rs910710420
NM_001298.3(CNGA3):c.778dup (p.Asp260fs) rs756172609
NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys) rs1558820134
NM_001303052.2(MYT1L):c.1975C>T (p.Arg659Ter) rs745333246
NM_001303052.2(MYT1L):c.2821C>T (p.Gln941Ter)
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys) rs1602510200
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001323289.2(CDKL5):c.358_367del (p.Ile120fs) rs1925421858
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.655C>T (p.Gln219Ter)
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser) rs1592162430
NM_001330288.2(SMARCC2):c.1311-3C>G rs1206884190
NM_001330691.3(CEP78):c.1369G>T (p.Glu457Ter)
NM_001347721.2(DYRK1A):c.1112del (p.Pro371fs) rs2148627581
NM_001347721.2(DYRK1A):c.1132C>T (p.Gln378Ter) rs1555987107
NM_001347721.2(DYRK1A):c.1743dup (p.Val582fs) rs2148662184
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001348323.3(TRIP12):c.3490dup (p.Ile1164fs) rs2043184881
NM_001348323.3(TRIP12):c.3500G>A (p.Trp1167Ter) rs2043183193
NM_001348716.2(KDM6B):c.1416_1417del (p.Cys473fs) rs2078587931
NM_001348716.2(KDM6B):c.4020G>A (p.Trp1340Ter) rs2078697392
NM_001348716.2(KDM6B):c.4021A>T (p.Lys1341Ter) rs1327932138
NM_001348716.2(KDM6B):c.4431G>A (p.Trp1477Ter) rs2151379742
NM_001349338.3(FOXP1):c.1146+1G>A rs1559650552
NM_001349338.3(FOXP1):c.1319C>G (p.Ser440Ter) rs2037906065
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001349338.3(FOXP1):c.1573C>T (p.Arg525Ter) rs112795301
NM_001349338.3(FOXP1):c.494del (p.Gly165fs) rs2107113374
NM_001354604.2(MITF):c.1093C>T (p.Gln365Ter) rs2066482511
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) rs1464157509
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr) rs796052226
NM_001356.5(DDX3X):c.233C>A (p.Ser78Ter) rs886041589
NM_001356.5(DDX3X):c.442C>T (p.Gln148Ter) rs2063867157
NM_001356.5(DDX3X):c.77del (p.Asn26fs) rs2063787069
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363711.2(DUOX2):c.2056C>T (p.Gln686Ter) rs119472027
NM_001365308.1(BMPER):c.1577G>A (p.Trp526Ter) rs1789189854
NM_001365536.1(SCN9A):c.2395dup (p.Asp799fs) rs1697325895
NM_001365536.1(SCN9A):c.4500del (p.Asn1502fs) rs1693691531
NM_001365999.1(SZT2):c.3228_3229insT (p.Leu1077fs) rs1653192107
NM_001365999.1(SZT2):c.6250_6253del (p.Val2084fs) rs1654576202
NM_001365999.1(SZT2):c.841del (p.Gln281fs) rs1293522591
NM_001367561.1(DOCK7):c.4138C>T (p.Arg1380Ter) rs1479675678
NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs) rs1569306724
NM_001367721.1(CASK):c.37G>T (p.Glu13Ter) rs769965673
NM_001368894.2(PAX6):c.225del (p.Tyr74_Tyr75insTer) rs2135099978
NM_001368894.2(PAX6):c.399+1G>A rs398123295
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter) rs121907917
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369268.1(ACAN):c.6534del (p.Thr2179fs) rs1897137506
NM_001369268.1(ACAN):c.6757del (p.Thr2253fs)
NM_001370100.5(ZMYND11):c.701_704del (p.Asp234fs)
NM_001370259.2(MEN1):c.625del (p.Gln209fs) rs1114167538
NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter) rs1558898568
NM_001371279.1(REEP1):c.501del (p.Ser168fs) rs1675097381
NM_001371279.1(REEP1):c.72del (p.Ser23_Tyr24insTer) rs2104394882
NM_001371623.1(TCOF1):c.1075del (p.Leu359fs) rs2150687333
NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter) rs777736953
NM_001372044.2(SHANK3):c.3175G>T (p.Glu1059Ter) rs2083278313
NM_001372044.2(SHANK3):c.3270_3280del (p.Lys1091fs) rs2083279575
NM_001372044.2(SHANK3):c.3440_3455dup (p.Lys1153fs) rs2083281950
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) rs886041238
NM_001372044.2(SHANK3):c.4396G>T (p.Glu1466Ter)
NM_001372066.1(TFAP2A):c.835_836del (p.Pro279fs)
NM_001374828.1(ARID1B):c.2206_2213dup (p.Asn738delinsLysThrTer) rs1792127580
NM_001374828.1(ARID1B):c.2282_2283del (p.Gly761fs) rs1784850566
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter) rs797045272
NM_001374828.1(ARID1B):c.313_323del (p.Glu105fs) rs1778756196
NM_001374828.1(ARID1B):c.3180del (p.Met1060fs) rs1791379124
NM_001374828.1(ARID1B):c.3904C>T (p.Gln1302Ter) rs1554231904
NM_001374828.1(ARID1B):c.4085_4089del (p.Pro1362fs) rs1793246524
NM_001374828.1(ARID1B):c.4590del (p.Gln1529_Tyr1530insTer) rs2128372743
NM_001374828.1(ARID1B):c.4870dup (p.Val1624fs) rs2128374526
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter) rs1554236040
NM_001374828.1(ARID1B):c.5781del (p.Asp1927fs) rs1794468027
NM_001374828.1(ARID1B):c.5826G>A (p.Trp1942Ter) rs1554237335
NM_001374828.1(ARID1B):c.5827C>T (p.Gln1943Ter) rs1554237342
NM_001374828.1(ARID1B):c.6410G>A (p.Trp2137Ter) rs1554237850
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001375380.1(EBF3):c.347dup (p.Tyr116Ter)
NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu) rs1057519389
NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter) rs1064796669
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001378120.1(MBD5):c.397+1G>A rs1553517991
NM_001378183.1(PIEZO2):c.5771del (p.Pro1924fs) rs2035546031
NM_001378183.1(PIEZO2):c.6721C>T (p.Gln2241Ter) rs2035163592
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001378418.1(TCF20):c.2786_2787del (p.Lys929fs) rs1921088321
NM_001378418.1(TCF20):c.4418_4419dup (p.Ser1474fs) rs2147199756
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378454.1(ALMS1):c.11047G>T (p.Glu3683Ter) rs759688621
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.5690C>G (p.Ser1897Ter) rs757128530
NM_001378454.1(ALMS1):c.7313C>A (p.Ser2438Ter) rs1558651680
NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter) rs1672934629
NM_001378477.3(NYX):c.632A>G (p.Asn211Ser) rs62637029
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del) rs281865194
NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro) rs397515476
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) rs1571636501
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del) rs397515475
NM_001379270.1(CNGA1):c.219del (p.Gln74fs)
NM_001379403.1(WDR26):c.1910dup (p.Asn637fs) rs1673323181
NM_001379403.1(WDR26):c.665del (p.Gln222fs) rs1674488084
NM_001379403.1(WDR26):c.740_741del (p.Leu247fs) rs1674398736
NM_001379500.1(COL18A1):c.3329_3336del (p.His1110fs)
NM_001379659.1(ZNF142):c.1852C>T (p.Arg618Ter) rs369649419
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs) rs863225190
NM_001384125.1(BLTP1):c.5494_5497del (p.Arg1832fs) rs1762119351
NM_001384125.1(BLTP1):c.5499del (p.Asp1835fs) rs1762121275
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter) rs2094144044
NM_001384140.1(PCDH15):c.4128dup (p.Leu1378fs) rs2077005374
NM_001384140.1(PCDH15):c.[3661C>T];[3717+1G>A]
NM_001384910.1(GUCA1A):c.265G>A (p.Glu89Lys) rs1768015203
NM_001384910.1(GUCA1A):c.299A>G (p.Asp100Gly) rs1768016995
NM_001384910.1(GUCA1A):c.451C>T (p.Leu151Phe) rs121434631
NM_001386298.1(CIC):c.1027del (p.Trp343fs)
NM_001386298.1(CIC):c.4280dup (p.Asp1428fs) rs2037985341
NM_001386393.1(PANK2):c.209_231del (p.Glu70fs) rs2090080350
NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser) rs1478088223
NM_001429.4(EP300):c.3685G>T (p.Glu1229Ter) rs866430850
NM_001429.4(EP300):c.4875dup (p.Gly1626fs) rs2059200372
NM_001429.4(EP300):c.5973dup (p.Gln1992fs) rs2059209950
NM_001451.3(FOXF1):c.691_698del (p.Ala231fs) rs1597291554
NM_001453.3(FOXC1):c.448del (p.Ser150fs) rs1762525428
NM_001458.5(FLNC):c.2872del (p.Val957_Val958insTer) rs1401551498
NM_001458.5(FLNC):c.5385dup (p.Gly1796fs) rs2128938102
NM_001458.5(FLNC):c.8129G>A (p.Trp2710Ter) rs1585173340
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter) rs121909518
NM_001540.5(HSPB1):c.126G>A (p.Trp42Ter) rs896004429
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001563.4(IMPG1):c.151dup (p.Met51fs) rs761247695
NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys) rs78001248
NM_001770.6(CD19):c.960del (p.Arg321fs) rs1964759975
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter) rs1085307608
NM_001844.5(COL2A1):c.2219del (p.Pro740fs) rs1565677720
NM_001844.5(COL2A1):c.2813del (p.Pro938fs) rs886039543
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001849.4(COL6A2):c.439C>T (p.Gln147Ter) rs2123615453
NM_001904.4(CTNNB1):c.1642C>T (p.Gln548Ter)
NM_001904.4(CTNNB1):c.1836_1837dup (p.Val613fs)
NM_001904.4(CTNNB1):c.1976del (p.Leu659fs) rs2078441559
NM_001904.4(CTNNB1):c.274C>T (p.Gln92Ter) rs2078141257
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001904.4(CTNNB1):c.928G>T (p.Glu310Ter) rs2078162308
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter) rs886041281
NM_001904.4(CTNNB1):c.999C>G (p.Tyr333Ter) rs778624338
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.597+5G>A rs879253882
NM_001972.4(ELANE):c.607G>C (p.Gly203Arg) rs201139487
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) rs137854451
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002074.5(GNB1):c.230G>C (p.Gly77Ala) rs1135401746
NM_002087.4(GRN):c.102del (p.Gly35fs) rs63751073
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.25del (p.Ala9fs) rs2048347685
NM_002087.4(GRN):c.599-2A>G rs1191556044
NM_002087.4(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_002087.4(GRN):c.78C>A (p.Cys26Ter) rs2143325486
NM_002291.3(LAMB1):c.1526del (p.Pro509fs)
NM_002294.3(LAMP2):c.327T>A (p.Tyr109Ter) rs1397410765
NM_002294.3(LAMP2):c.487del (p.Asp163fs) rs2058610123
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.929-2A>G rs1556092556
NM_002335.4(LRP5):c.3915C>A (p.Cys1305Ter)
NM_002437.5(MPV17):c.210C>A (p.Tyr70Ter)
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_002473.6(MYH9):c.5822del (p.Asp1941fs) rs2146325401
NM_002547.3(OPHN1):c.1265del (p.Asn422fs) rs2077495517
NM_002700.3(POU4F3):c.823_842del (p.Lys275fs)
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr) rs121918511
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro) rs121918512
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002775.5(HTRA1):c.175_178del (p.Arg59fs)
NM_002816.5(PSMD12):c.367C>T (p.Arg123Ter) rs1114167442
NM_002816.5(PSMD12):c.686T>G (p.Leu229Ter)
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.181G>C (p.Asp61His) rs397507510
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_002878.4(RAD51D):c.330dup (p.Ser111Ter) rs786202434
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002890.3(RASA1):c.2603+1G>A rs983011713
NM_003000.3(SDHB):c.287-2A>G rs1064794270
NM_003000.3(SDHB):c.661del (p.Asp221fs)
NM_003011.4(SET):c.615_619del (p.Glu206fs) rs1861627066
NM_003042.4(SLC6A1):c.148_151del (p.Arg50fs) rs1697194864
NM_003042.4(SLC6A1):c.155A>T (p.Asp52Val) rs1697195476
NM_003042.4(SLC6A1):c.156C>G (p.Asp52Glu) rs1697195588
NM_003042.4(SLC6A1):c.158T>C (p.Phe53Ser) rs1697195703
NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys) rs1586660370
NM_003070.5(SMARCA2):c.2809C>T (p.Arg937Cys) rs1586692548
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003106.4(SOX2):c.170del (p.Arg57fs) rs2108521694
NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter) rs55683010
NM_003106.4(SOX2):c.498G>A (p.Trp166Ter) rs2108522652
NM_003106.4(SOX2):c.621del (p.Gln206_Tyr207insTer) rs2108522983
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003119.4(SPG7):c.1867_1870del (p.Phe623fs) rs2058651832
NM_003119.4(SPG7):c.2166_2167insCAACAACCTG (p.Asp723fs) rs2058667949
NM_003119.4(SPG7):c.808del (p.Tyr270fs)
NM_003128.3(SPTBN1):c.2275_2285del (p.Trp759fs) rs2103925559
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln) rs1799747454
NM_003172.4(SURF1):c.312_317del (p.Leu105_Pro106del) rs1836519031
NM_003172.4(SURF1):c.319G>T (p.Ala107Ser) rs1836518975
NM_003172.4(SURF1):c.320_321del (p.Ala107fs) rs1836518719
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003235.5(TG):c.6610del (p.Ser2204fs)
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter) rs104894312
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003322.6(TULP1):c.568G>T (p.Glu190Ter) rs1761161294
NM_003322.6(TULP1):c.790C>T (p.Gln264Ter) rs2150926986
NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) rs201070350
NM_003403.5(YY1):c.468_483del (p.Gly157fs) rs1890695996
NM_003466.4(PAX8):c.91C>T (p.Arg31Cys) rs761612832
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter) rs104893624
NM_003482.4(KMT2D):c.1193del (p.Gly398fs)
NM_003482.4(KMT2D):c.14000del (p.Asp4667fs) rs1942780608
NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.2877C>G (p.Tyr959Ter) rs1937915973
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) rs878853263
NM_003560.4(PLA2G6):c.643C>T (p.Gln215Ter) rs2088813126
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003620.4(PPM1D):c.1305_1308dup (p.Pro437fs)
NM_003680.4(YARS1):c.586G>A (p.Glu196Lys) rs121908834
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_003718.5(CDK13):c.1187del (p.Arg396fs) rs1787228771
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003719.5(PDE8B):c.94del (p.Val32fs) rs2149371436
NM_003719.5(PDE8B):c.95T>C (p.Val32Ala) rs2149371468
NM_003793.4(CTSF):c.218_219insCCC (p.Gly73_Gln74insPro) rs1857975521
NM_003793.4(CTSF):c.219_220insG (p.Gln74fs) rs1857975142
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln) rs113994057
NM_003919.3(SGCE):c.549_552del (p.Phe183fs) rs1554352952
NM_003919.3(SGCE):c.619del (p.Arg207fs) rs1554352819
NM_003919.3(SGCE):c.667del (p.Tyr223fs) rs1057519246
NM_003919.3(SGCE):c.835_839del (p.Thr279fs) rs863223283
NM_003924.4(PHOX2B):c.866dup (p.Pro290fs) rs1733868277
NM_003924.4(PHOX2B):c.95_105del (p.Asp32fs) rs1733985177
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs) rs398123881
NM_004006.3(DMD):c.489G>A (p.Trp163Ter) rs398123970
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004085.4(TIMM8A):c.133-1G>T rs1926076502
NM_004086.3(COCH):c.362T>C (p.Phe121Ser)
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004181.5(UCHL1):c.260_261dup (p.Asn88fs)
NM_004181.5(UCHL1):c.30dup (p.Glu11fs)
NM_004183.4(BEST1):c.1315C>T (p.Gln439Ter) rs1942169028
NM_004183.4(BEST1):c.182del (p.Met61fs) rs1941145120
NM_004183.4(BEST1):c.297C>A (p.Asn99Lys) rs281865227
NM_004183.4(BEST1):c.665G>T (p.Gly222Val) rs281865241
NM_004183.4(BEST1):c.703G>T (p.Val235Leu) rs281865245
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.779del (p.Pro260fs) rs778645644
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004183.4(BEST1):c.932T>G (p.Val311Gly)
NM_004187.5(KDM5C):c.149_150dup (p.Asp51fs) rs2073994786
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter) rs370032584
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004247.4(EFTUD2):c.1421del (p.Leu474fs)
NM_004247.4(EFTUD2):c.291_292insT (p.Lys98Ter) rs2051147818
NM_004281.4(BAG3):c.715G>T (p.Glu239Ter) rs148544471
NM_004281.4(BAG3):c.889_890del (p.Thr297fs) rs1847169064
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter) rs971882211
NM_004360.5(CDH1):c.583C>T (p.Gln195Ter) rs1960737851
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) rs756385625
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter) rs1555484797
NM_004380.3(CREBBP):c.1911del (p.Asp639fs) rs2141237372
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004425.4(ECM1):c.1450_1454del (p.Ala484fs)
NM_004425.4(ECM1):c.506dup (p.Gly170fs) rs869025564
NM_004425.4(ECM1):c.760C>T (p.Arg254Ter) rs1560266014
NM_004463.3(FGD1):c.2735G>A (p.Trp912Ter) rs1922171377
NM_004484.4(GPC3):c.256C>T (p.Arg86Ter) rs2076400520
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004523.4(KIF11):c.2230C>T (p.Gln744Ter) rs1554862427
NM_004589.4(SCO1):c.521C>T (p.Pro174Leu) rs104894630
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla) rs193922941
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004656.4(BAP1):c.1228C>T (p.Gln410Ter)
NM_004656.4(BAP1):c.1459_1462del (p.Thr487fs) rs1705049633
NM_004859.4(CLTC):c.2646_2649del (p.Ile882_Tyr883insTer) rs2143580660
NM_004863.4(SPTLC2):c.1145G>T (p.Gly382Val) rs267607089
NM_004928.3(CFAP410):c.59_62del (p.Val20fs) rs2047819253
NM_004937.3(CTNS):c.681G>A (p.Glu227=) rs778414542
NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004974.4(KCNA2):c.889C>T (p.Arg297Trp) rs1649473972
NM_004975.4(KCNB1):c.978del (p.Ser327fs) rs1984257835
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_004984.4(KIF5A):c.1378C>T (p.Arg460Ter) rs1882272161
NM_004984.4(KIF5A):c.1636C>T (p.Arg546Ter) rs185438769
NM_004984.4(KIF5A):c.2811del (p.Thr938fs) rs1882598771
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp) rs748551786
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) rs387907287
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_004999.4(MYO6):c.560del (p.Pro187fs) rs2150249865
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005027.4(PIK3R2):c.1126A>G (p.Lys376Glu) rs886041591
NM_005097.4(LGI1):c.1442del (p.Pro481fs) rs2134026964
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005121.3(MED13):c.1987_1999del (p.Lys663fs)
NM_005186.4(CAPN1):c.414_415insTATGCGGAACCATAGCTT (p.Gln139delinsTyrAlaGluProTer) rs1948582304
NM_005186.4(CAPN1):c.416_417insTA (p.Gln139fs) rs1948582433
NM_005186.4(CAPN1):c.417_418insCTTCAT (p.Gln139_Ser140insLeuHis) rs1948582497
NM_005186.4(CAPN1):c.616_620del (p.Ser206fs) rs1948630635
NM_005186.4(CAPN1):c.759+1G>A rs1421591415
NM_005186.4(CAPN1):c.759+1G>T rs1421591415
NM_005236.3(ERCC4):c.1069dup (p.Ile357fs) rs34607888
NM_005236.3(ERCC4):c.516_517del (p.Thr173fs) rs2032078984
NM_005249.5(FOXG1):c.1014dup (p.Met339fs) rs1881816066
NM_005249.5(FOXG1):c.1168dup (p.Cys390fs) rs1881820386
NM_005249.5(FOXG1):c.256dup (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.460del (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.512dup (p.Glu173fs) rs2138661043
NM_005249.5(FOXG1):c.920dup (p.Tyr307Ter) rs1881812495
NM_005321.3(H1-4):c.414dup (p.Lys139fs) rs1581429403
NM_005360.5(MAF):c.173C>T (p.Thr58Ile) rs727502769
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005378.6(MYCN):c.1178G>A (p.Arg393His) rs104893646
NM_005450.6(NOG):c.104C>G (p.Pro35Arg) rs104894611
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_005476.7(GNE):c.961del (p.Arg321fs) rs1829284063
NM_005557.4(KRT16):c.374A>G (p.Asn125Ser) rs60723330
NM_005559.4(LAMA1):c.11del (p.Gly4fs) rs767647793
NM_005559.4(LAMA1):c.2935del (p.Arg979fs) rs758601967
NM_005629.4(SLC6A8):c.1260_1281del (p.Gly421fs) rs2091473920
NM_005629.4(SLC6A8):c.1290_1309del (p.Asp431fs) rs886041818
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005654.6(NR2F1):c.1065del (p.Glu354_Tyr355insTer)
NM_005660.3(SLC35A2):c.832C>T (p.Gln278Ter)
NM_005850.5(SF3B4):c.1147del (p.His383fs) rs387907186
NM_005859.5(PURA):c.159dup (p.Leu54fs) rs1554129040
NM_005859.5(PURA):c.563T>C (p.Ile188Thr) rs793888527
NM_005859.5(PURA):c.677_678del (p.Val226fs) rs1064796830
NM_005859.5(PURA):c.711dup (p.Asn238fs) rs886042017
NM_005861.4(STUB1):c.617_618del (p.Lys206fs) rs2039682224
NM_005861.4(STUB1):c.65del (p.Lys22fs) rs2039633804
NM_005869.4(CWC27):c.666_669del (p.Ser222fs) rs1743983240
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_005984.5(SLC25A1):c.520G>T (p.Glu174Ter) rs139862803
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006015.6(ARID1A):c.476dup (p.Ala160fs)
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.199C>T (p.Gln67Ter) rs751460221
NM_006017.3(PROM1):c.914dup (p.Leu306fs)
NM_006086.4(TUBB3):c.1162A>G (p.Met388Val) rs878853279
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) rs1057521924
NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His) rs886041021
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His) rs886039470
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) rs1554786802
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His) rs1554786803
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter) rs1572018284
NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006218.4(PIK3CA):c.1356AGA[1] (p.Glu453del) rs587776933
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly) rs2108424902
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys) rs863225080
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006269.2(RP1):c.1975A>T (p.Lys659Ter) rs1806028872
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2102_2103del (p.Arg701fs)
NM_006269.2(RP1):c.2103_2104del (p.Arg701fs)
NM_006269.2(RP1):c.2108del (p.Asn703fs) rs1806033536
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006269.2(RP1):c.2332A>T (p.Lys778Ter) rs1806041389
NM_006269.2(RP1):c.2352_2356del (p.Ile785fs) rs2129316571
NM_006269.2(RP1):c.2374A>T (p.Lys792Ter) rs1365908727
NM_006269.2(RP1):c.271del (p.Ser91fs) rs1805854944
NM_006269.2(RP1):c.3157del (p.Tyr1053fs) rs748709396
NM_006269.2(RP1):c.3690del (p.Gly1231fs) rs1554519822
NM_006306.4(SMC1A):c.1192C>T (p.Arg398Ter) rs886041902
NM_006306.4(SMC1A):c.1813_1814del (p.Ile605fs) rs2146599783
NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs) rs776644374
NM_006343.3(MERTK):c.2070_2074del (p.Gly691fs) rs1573638426
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006494.4(ERF):c.266A>G (p.Tyr89Cys) rs886041001
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.16A>T (p.Lys6Ter)
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val) rs2124478725
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006593.4(TBR1):c.163dup (p.Ile55fs)
NM_006612.6(KIF1C):c.2478del (p.Ala828fs) rs1131690773
NM_006734.4(HIVEP2):c.6609_6616del (p.Pro2203_Glu2204insTer) rs1774993567
NM_006766.5(KAT6A):c.1465_1471del (p.Gln489fs) rs1823961696
NM_006766.5(KAT6A):c.3973G>T (p.Glu1325Ter) rs563126698
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_006767.4(LZTR1):c.1336G>T (p.Glu446Ter) rs1339837843
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006772.3(SYNGAP1):c.2974del (p.Val992fs) rs1761108186
NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs) rs2151190135
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.926del (p.Gly309fs) rs1760890595
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_006852.6(TLK2):c.1583del (p.Asn528fs) rs2082811780
NM_006852.6(TLK2):c.968+2T>G rs2079647537
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_006915.3(RP2):c.838del (p.Val280fs) rs2147083250
NM_006922.4(SCN3A):c.1945dup (p.Asp649fs)
NM_006940.6(SOX5):c.1659del (p.Glu553fs) rs1942470861
NM_006940.6(SOX5):c.442C>T (p.Gln148Ter) rs2096571200
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro) rs121918306
NM_007055.4(POLR3A):c.1011G>A (p.Trp337Ter) rs1847583387
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1896_1897del (p.Ala633fs) rs1847443896
NM_007055.4(POLR3A):c.2378C>G (p.Ser793Ter) rs1847352468
NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs) rs1378008503
NM_007118.4(TRIO):c.1135G>T (p.Glu379Ter) rs1737048333
NM_007118.4(TRIO):c.2414G>A (p.Trp805Ter) rs1744357992
NM_007118.4(TRIO):c.3806del (p.Pro1269fs) rs1746675692
NM_007118.4(TRIO):c.651_652del (p.Arg217fs) rs1736840999
NM_007118.4(TRIO):c.7040del (p.His2347fs) rs1756051391
NM_007194.4(CHEK2):c.729dup (p.Lys244Ter) rs2145951132
NM_007217.4(PDCD10):c.131dup (p.Arg45fs) rs2108438340
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007289.4(MME):c.1564C>T (p.Gln522Ter) rs1553765316
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.4(BRCA1):c.1127del (p.Asn376fs) rs80357821
NM_007294.4(BRCA1):c.1165del (p.Ser389fs) rs80357985
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.4(BRCA1):c.1579_1580del (p.Lys527fs) rs431825387
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter) rs80357471
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter) rs41286296
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.2515del (p.His839fs) rs80357607
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.2921dup (p.Leu974fs) rs80357611
NM_007294.4(BRCA1):c.3037G>T (p.Glu1013Ter) rs1555588500
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) rs80357635
NM_007294.4(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs) rs397509067
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs) rs80357980
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.3779del (p.Leu1260fs) rs80357798
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter) rs80357208
NM_007294.4(BRCA1):c.3973del (p.Arg1325fs) rs80357904
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter) rs80357202
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4587del (p.Lys1530fs) rs2154006573
NM_007294.4(BRCA1):c.4932_4933dup (p.Arg1645fs) rs80357833
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter) rs80356974
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5152+5G>A rs80358165
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs) rs80357867
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs) rs80357558
NM_007294.4(BRCA1):c.5492del (p.Pro1831fs) rs80357582
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter) rs80357307
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) rs80358303
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012233.3(RAB3GAP1):c.482+1G>A rs1690872807
NM_012309.5(SHANK2):c.2429C>G (p.Ser810Ter) rs2135762104
NM_012330.4(KAT6B):c.2510del (p.Cys837fs) rs1842737894
NM_012330.4(KAT6B):c.3349_3350del (p.Gln1117fs)
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.4228G>T (p.Glu1410Ter) rs1846107943
NM_013254.4(TBK1):c.1372_1373del (p.Val458fs)
NM_013254.4(TBK1):c.738_739del (p.Ser247fs)
NM_013275.6(ANKRD11):c.1146dup (p.Ile383fs) rs2034580235
NM_013275.6(ANKRD11):c.1280_1281del (p.Arg427fs) rs2034569713
NM_013275.6(ANKRD11):c.1318C>T (p.Arg440Ter) rs771973198
NM_013275.6(ANKRD11):c.1422dup (p.Lys475fs) rs2034556621
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2329_2332del (p.Glu777fs) rs2034485034
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2662_2666del (p.Arg888fs) rs2034460549
NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter) rs1597459649
NM_013275.6(ANKRD11):c.3055_3059del (p.Arg1019fs) rs2034426914
NM_013275.6(ANKRD11):c.3187A>T (p.Lys1063Ter) rs2034417449
NM_013275.6(ANKRD11):c.4052_4053insT (p.Arg1351fs) rs2034342196
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs) rs1597451815
NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter) rs1555526636
NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs) rs1555525115
NM_013275.6(ANKRD11):c.7323C>G (p.Tyr2441Ter)
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_014000.3(VCL):c.176_177del (p.Lys59fs) rs2136248791
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr) rs2063883437
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs) rs1572027164
NM_014112.5(TRPS1):c.1505del (p.Ser502fs) rs2130492512
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter) rs751565386
NM_014141.6(CNTNAP2):c.694C>T (p.Gln232Ter) rs1800807147
NM_014168.4(METTL5):c.571_572del (p.Lys191fs) rs1573965358
NM_014208.3(DSPP):c.3538_3550del (p.Ser1180fs)
NM_014208.3(DSPP):c.44C>T (p.Ala15Val) rs121912989
NM_014249.4(NR2E3):c.263G>T (p.Gly88Val) rs1278137915
NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter) rs1257334132
NM_014332.3(SMPX):c.127G>T (p.Glu43Ter) rs745997977
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11509del (p.Gln3837fs) rs2137566018
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.1783C>T (p.Gln595Ter) rs2137718900
NM_014363.6(SACS):c.2387del (p.Leu796fs)
NM_014363.6(SACS):c.3298_3301del (p.Glu1100fs) rs1869112857
NM_014363.6(SACS):c.4911C>A (p.Tyr1637Ter) rs1868929983
NM_014363.6(SACS):c.6290del (p.Cys2097fs) rs1868755540
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014491.4(FOXP2):c.1499del (p.Asn500fs) rs1806756940
NM_014491.4(FOXP2):c.556C>T (p.Gln186Ter) rs1265049777
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter) rs121908378
NM_014712.3(SETD1A):c.1304del (p.Pro435fs) rs2143492454
NM_014712.3(SETD1A):c.2825del (p.Pro942fs)
NM_014727.3(KMT2B):c.3400C>T (p.Gln1134Ter) rs1555730069
NM_014727.3(KMT2B):c.6245_6266dup (p.Val2090fs) rs1555732987
NM_014795.4(ZEB2):c.2803dup (p.Met935fs) rs1703258451
NM_014822.4(SEC24D):c.3044C>T (p.Ser1015Phe) rs760670617
NM_014845.6(FIG4):c.2157_2158insA (p.Glu720fs) rs1778083045
NM_014845.6(FIG4):c.2188dup (p.Ser730fs) rs1778129968
NM_014874.4(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014927.5(CNKSR2):c.1295dup (p.Thr433fs) rs2147123908
NM_014927.5(CNKSR2):c.187C>T (p.Gln63Ter)
NM_014927.5(CNKSR2):c.298C>T (p.Gln100Ter) rs2090650922
NM_014946.4(SPAST):c.1063C>T (p.Gln355Ter) rs1678826642
NM_014946.4(SPAST):c.1180del (p.Ala394fs) rs1679263902
NM_014946.4(SPAST):c.1204del (p.Thr402fs) rs1679264713
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del) rs1553317028
NM_014946.4(SPAST):c.1245+6T>G rs1553317050
NM_014946.4(SPAST):c.1276_1277del (p.Leu426fs) rs1679543897
NM_014946.4(SPAST):c.1294G>T (p.Glu432Ter)
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1379G>A (p.Arg460His) rs1553318241
NM_014946.4(SPAST):c.1407del (p.Phe469fs) rs1679557890
NM_014946.4(SPAST):c.1493+2T>A rs1553318353
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_014946.4(SPAST):c.1702_1712del (p.Gln568fs) rs1679916151
NM_014946.4(SPAST):c.238C>T (p.Gln80Ter) rs1676403099
NM_014946.4(SPAST):c.267dup (p.Lys90fs) rs1676404879
NM_014946.4(SPAST):c.27dup (p.Lys10fs) rs1676385056
NM_014946.4(SPAST):c.302C>A (p.Ser101Ter) rs746263735
NM_014946.4(SPAST):c.424A>T (p.Lys142Ter) rs756977900
NM_014946.4(SPAST):c.430C>T (p.Gln144Ter) rs1553399476
NM_014946.4(SPAST):c.451_454del (p.Lys151fs) rs1677532829
NM_014946.4(SPAST):c.456_460del (p.Ile153fs) rs1677533134
NM_014946.4(SPAST):c.474del (p.Gly159fs) rs1677533628
NM_014946.4(SPAST):c.474dup (p.Gly159fs) rs1677533628
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs) rs1676388641
NM_014946.4(SPAST):c.703dup (p.Arg235fs) rs1678753761
NM_014946.4(SPAST):c.746C>G (p.Ser249Ter) rs1553314902
NM_014946.4(SPAST):c.757dup (p.Met253fs) rs2148732951
NM_014946.4(SPAST):c.776_778del (p.Gly259_Leu260delinsVal) rs1678758382
NM_014946.4(SPAST):c.780T>G (p.Leu260=) rs1678758592
NM_014946.4(SPAST):c.782del (p.Leu260_Ser261insTer) rs1678758915
NM_014946.4(SPAST):c.783dup (p.Gly262fs) rs1678759023
NM_014946.4(SPAST):c.784_787del (p.Gly262fs) rs1678759130
NM_014946.4(SPAST):c.790_791del (p.His263_His264insTer) rs1678759604
NM_014946.4(SPAST):c.839_840del (p.Gln280fs) rs1678762730
NM_014946.4(SPAST):c.841G>T (p.Gly281Ter) rs1553314951
NM_014946.4(SPAST):c.880A>T (p.Lys294Ter) rs1678803052
NM_014946.4(SPAST):c.936del (p.Asp313fs) rs2148734097
NM_015001.3(SPEN):c.6925dup (p.Ser2309fs)
NM_015021.3(ZNF292):c.1414G>T (p.Glu472Ter)
NM_015021.3(ZNF292):c.4897A>T (p.Lys1633Ter) rs1775368255
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter) rs747501465
NM_015046.7(SETX):c.6838_6841del (p.Asn2280fs) rs1439109327
NM_015100.4(POGZ):c.1264_1265del (p.Lys422fs)
NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter) rs1654081712
NM_015100.4(POGZ):c.2350C>T (p.Arg784Ter) rs886041669
NM_015100.4(POGZ):c.3597_3598del (p.Tyr1199_Ser1200delinsTer) rs1653396401
NM_015100.4(POGZ):c.632_633del (p.Pro211fs) rs1658120232
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015213.4(DENND5A):c.2180dup (p.Ser728fs) rs1848176232
NM_015215.4(CAMTA1):c.1798dup (p.Ser600fs)
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015335.5(MED13L):c.1108_1111dup (p.Lys371fs) rs2137415111
NM_015335.5(MED13L):c.1852dup (p.Tyr618fs) rs1879198833
NM_015335.5(MED13L):c.627dup (p.Leu210fs) rs1879959408
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.5(MED13L):c.82dup (p.Thr28fs) rs1870221353
NM_015338.6(ASXL1):c.3637_3640del (p.Leu1213fs) rs1555912648
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs) rs1190463308
NM_015346.4(ZFYVE26):c.2263C>T (p.Arg755Ter) rs1297072049
NM_015404.4(WHRN):c.35C>A (p.Ser12Ter)
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) rs1568235086
NM_015559.3(SETBP1):c.2372_2387del (p.Ser791fs) rs2145104445
NM_015559.3(SETBP1):c.2671del (p.Arg891fs) rs2071365945
NM_015559.3(SETBP1):c.2762del (p.His921fs)
NM_015570.4(AUTS2):c.149C>A (p.Ser50Ter) rs775225727
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_015629.4(PRPF31):c.217A>T (p.Lys73Ter) rs2073709795
NM_015629.4(PRPF31):c.358_359del (p.Lys120fs) rs1555792415
NM_015629.4(PRPF31):c.395del (p.Ala132fs) rs2073818439
NM_015629.4(PRPF31):c.652_655dup (p.Leu219fs)
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) rs1555793828
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015909.4(NBAS):c.5104del (p.Phe1701_Met1702insTer) rs2148090502
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.1501C>T (p.Arg501Ter) rs1316385532
NM_015915.5(ATL1):c.352C>T (p.Arg118Ter) rs754423972
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015915.5(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_015915.5(ATL1):c.776C>T (p.Ser259Phe) rs119476047
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016077.5(PTRH2):c.269_270del (p.Ala90fs) rs786201017
NM_016233.2(PADI3):c.[335T>A];[881C>T]
NM_016239.4(MYO15A):c.[6580C>T];[7124_7127del]
NM_016247.4(IMPG2):c.1491del (p.Leu498fs)
NM_016247.4(IMPG2):c.68dup (p.Asp23fs) rs768660614
NM_016302.4(CRBN):c.807dup (p.Asp270fs) rs1706807912
NM_016373.4(WWOX):c.716T>G (p.Leu239Arg) rs2083042603
NM_016525.5(UBAP1):c.426_427del (p.Lys143fs) rs1563920252
NM_016604.4(KDM3B):c.4206G>A (p.Trp1402Ter) rs2126998820
NM_016628.5(WAC):c.139C>T (p.Arg47Ter) rs368543869
NM_016628.5(WAC):c.1567dup (p.Ser523fs) rs2132862248
NM_016628.5(WAC):c.1830_1833dup (p.Val612fs)
NM_016628.5(WAC):c.1864C>T (p.Arg622Ter)
NM_016628.5(WAC):c.284dup (p.Tyr95Ter)
NM_016628.5(WAC):c.851_866dup (p.Lys290fs) rs1840343718
NM_016648.4(LARP7):c.697_698del (p.Asn233fs) rs1164032252
NM_017541.4(CRYGS):c.53G>T (p.Gly18Val) rs104893736
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017617.5(NOTCH1):c.4668G>A (p.Trp1556Ter) rs2133337500
NM_017635.5(KMT5B):c.1823del (p.Gly608fs)
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) rs1563625351
NM_017780.4(CHD7):c.2587C>T (p.Gln863Ter) rs2150739058
NM_017780.4(CHD7):c.2609dup (p.Glu871fs) rs1803756402
NM_017780.4(CHD7):c.2957+2T>C rs2150749475
NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs) rs2150761158
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter) rs1554603151
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.6521_6525del (p.Lys2174fs)
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.7314del (p.Glu2439fs)
NM_017780.4(CHD7):c.8081_8082dup (p.Val2695fs) rs1806173661
NM_017780.4(CHD7):c.8606_8607del (p.Ser2869fs)
NM_017799.4(TMEM260):c.721dup (p.Tyr241fs) rs773888234
NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe) rs1555331969
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017934.7(PHIP):c.1507C>T (p.Arg503Ter) rs1411448554
NM_017934.7(PHIP):c.4402C>T (p.Gln1468Ter) rs1554194287
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018052.5(VAC14):c.1744G>A (p.Ala582Thr) rs749094914
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val) rs1227163239
NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs) rs794726680
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018082.6(POLR3B):c.1112_1113del (p.Leu371fs) rs2037451732
NM_018122.5(DARS2):c.[228-10C>A];[492+2T>C]
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter) rs933106143
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs) rs199422169
NM_018136.5(ASPM):c.804_805del (p.Lys268fs) rs1658666393
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8141del (p.Ala2714fs) rs2125093720
NM_018418.5(SPATA7):c.1418del (p.Met473fs)
NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter) rs1569316085
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_019042.5(PUS7):c.1097_1098del (p.Leu366fs)
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.2847_2883del (p.Ser950fs) rs1890358679
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020247.5(COQ8A):c.1396del (p.Glu466fs) rs1553280621
NM_020247.5(COQ8A):c.248dup (p.His85fs) rs1658476495
NM_020247.5(COQ8A):c.798_823dup (p.Leu275fs) rs1659733643
NM_020374.4(FERRY3):c.1132C>T (p.Gln378Ter) rs1943754275
NM_020435.4(GJC2):c.706G>C (p.Gly236Arg)
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.817G>A (p.Gly273Arg) rs2124448034
NM_020699.4(GATAD2B):c.818dup (p.Gln274fs)
NM_020702.5(MYORG):c.900C>A (p.Tyr300Ter) rs754312036
NM_020738.4(KIDINS220):c.3994G>T (p.Glu1332Ter) rs1664428364
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020919.4(ALS2):c.1652T>A (p.Leu551Ter) rs1693173657
NM_020971.3(SPTBN4):c.5091_5092del (p.Gln1697fs) rs2080975555
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) rs886039494
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) rs797044951
NM_021008.4(DEAF1):c.578_579insAAAA (p.Asn193fs) rs2133406667
NM_021035.3(ZNFX1):c.397A>T (p.Lys133Ter) rs1981392635
NM_021120.4(DLG3):c.1369del (p.Gln457fs) rs2086662769
NM_021120.4(DLG3):c.2035C>T (p.Arg679Ter) rs1602991098
NM_021224.6(ZNF462):c.2859del (p.Asn954fs) rs2131473842
NM_021728.4(OTX2):c.591T>G (p.Tyr197Ter)
NM_021964.3(ZNF148):c.1195_1199del (p.Arg399fs) rs2107832092
NM_022081.6(HPS4):c.554dup (p.Ser186fs) rs2089664458
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022455.5(NSD1):c.3496del (p.Arg1166fs) rs1763373604
NM_022455.5(NSD1):c.4220_4221del (p.Lys1407fs) rs2149889364
NM_022575.4(VPS16):c.1939C>T (p.Arg647Ter) rs374914263
NM_022575.4(VPS16):c.721_727del (p.Gly241fs) rs2089222709
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_022772.4(EPS8L2):c.1014del (p.Ser339fs) rs1554952443
NM_022893.4(BCL11A):c.1078del (p.Leu360fs) rs768799046
NM_022893.4(BCL11A):c.370C>T (p.Gln124Ter) rs1670131098
NM_024426.6(WT1):c.1032C>G (p.Tyr344Ter)
NM_024426.6(WT1):c.1061del (p.Leu354fs) rs1852100661
NM_024426.6(WT1):c.689del (p.Thr230fs) rs1853148873
NM_024496.4(IRF2BPL):c.1104G>A (p.Trp368Ter)
NM_024496.4(IRF2BPL):c.283_320del (p.Ala95fs) rs1885182398
NM_024496.4(IRF2BPL):c.358C>T (p.Gln120Ter) rs1885174753
NM_024496.4(IRF2BPL):c.449del (p.Gly150fs) rs2139976167
NM_024666.5(AAGAB):c.314G>A (p.Trp105Ter) rs1964467589
NM_024675.4(PALB2):c.1046del (p.Asn349fs) rs1555461484
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) rs786203714
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.2032del (p.Leu678fs) rs730881866
NM_024675.4(PALB2):c.211+1G>T rs1555462026
NM_024675.4(PALB2):c.2470dup (p.Cys824fs) rs863224521
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter) rs1555457867
NM_024675.4(PALB2):c.487_488del (p.Val163fs) rs745533713
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.658del (p.Ser220fs) rs876659328
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) rs1156913215
NM_024685.4(BBS10):c.805dup (p.Ser269fs)
NM_024725.4(CCDC82):c.183del (p.Phe61fs) rs1866078752
NM_024757.5(EHMT1):c.1543C>T (p.Gln515Ter) rs1949924892
NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter) rs137852718
NM_024757.5(EHMT1):c.2198del (p.Lys733fs) rs1951232337
NM_024757.5(EHMT1):c.2712+1G>A rs1057518849
NM_024757.5(EHMT1):c.3271dup (p.Leu1091fs) rs1954886330
NM_024757.5(EHMT1):c.3520del (p.Leu1174fs) rs1955070984
NM_024757.5(EHMT1):c.3524_3530del (p.Phe1175fs) rs1955071278
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs) rs1555208870
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs) rs1220982145
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs) rs312262735
NM_025137.4(SPG11):c.4083C>A (p.Tyr1361Ter) rs764880157
NM_025137.4(SPG11):c.4217del (p.Ala1406fs) rs2083036870
NM_025137.4(SPG11):c.4396C>T (p.Gln1466Ter) rs2083030924
NM_025137.4(SPG11):c.6215_6219dup (p.Phe2074fs) rs2082450607
NM_025137.4(SPG11):c.777_781del (p.Ser261fs) rs2084965242
NM_025216.3(WNT10A):c.[487C>T];[682T>A]
NM_030632.3(ASXL3):c.1801C>T (p.Gln601Ter) rs2067607089
NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter) rs1204482456
NM_030665.4(RAI1):c.2223_2224dup (p.Asn742fs) rs2143002175
NM_030665.4(RAI1):c.362_363insT (p.Trp121fs) rs2032092446
NM_030665.4(RAI1):c.367del (p.Ala123fs) rs1290537273
NM_030665.4(RAI1):c.848_851del (p.Gln283fs)
NM_030665.4(RAI1):c.868C>T (p.Gln290Ter) rs771803841
NM_030912.3(TRIM8):c.1267C>T (p.Gln423Ter) rs2064030858
NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter) rs121434357
NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro) rs1564063967
NM_031296.3(RAB33B):c.186_192del (p.Glu63fs) rs2111067546
NM_031296.3(RAB33B):c.197_199del (p.Ile66_Gly67delinsArg) rs2111067574
NM_031844.3(HNRNPU):c.1913-1G>A rs1680675492
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.3(BRIP1):c.1510del (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter) rs1580905929
NM_032119.4(ADGRV1):c.18883_18886del (p.Glu6295fs) rs762597192
NM_032119.4(ADGRV1):c.6077dup (p.Tyr2026Ter)
NM_032119.4(ADGRV1):c.6856C>T (p.Arg2286Ter) rs1746388061
NM_032383.5(HPS3):c.2736del (p.Glu913fs) rs1724509208
NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter) rs782397980
NM_032436.4(CHAMP1):c.2012_2016del (p.Met671fs) rs2087243806
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032756.4(HPDL):c.753C>A (p.His251Gln) rs1644259400
NM_032805.3(ZSCAN10):c.1250C>A (p.Ser417Ter)
NM_032805.3(ZSCAN10):c.2050del (p.His684fs)
NM_032861.4(SERAC1):c.1488dup (p.His497fs) rs1784284453
NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter) rs1589306127
NM_033100.4(CDHR1):c.193_194dup (p.Asp65fs) rs749926328
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.768C>G (p.Tyr256Ter) rs769081286
NM_033116.6(NEK9):c.1432del (p.Leu478fs) rs775453859
NM_033305.3(VPS13A):c.5761C>T (p.Arg1921Ter) rs1369905878
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp) rs104886101
NM_033380.3(COL4A5):c.2974C>T (p.Gln992Ter) rs2147869275
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_057175.5(NAA15):c.238_239insG (p.His80fs)
NM_057175.5(NAA15):c.922G>T (p.Glu308Ter) rs1271040251
NM_058172.6(ANTXR2):c.[1073dup];[1074del]
NM_080632.3(UPF3B):c.684_685del (p.Glu230fs) rs2147787295
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.1352T>G (p.Leu451Arg) rs727504060
NM_130837.3(OPA1):c.1359del (p.Leu454fs) rs2109043623
NM_130837.3(OPA1):c.1377+1G>T rs2109043749
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1681+1G>T rs886041318
NM_130837.3(OPA1):c.1734dup (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter) rs1553784985
NM_130837.3(OPA1):c.2512dup (p.Gln838fs) rs1714725151
NM_130837.3(OPA1):c.2686del (p.Tyr896fs) rs2109253558
NM_130837.3(OPA1):c.2853dup (p.Gln952fs)
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2962_2966del (p.Val988fs) rs1716781226
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.365G>A (p.Trp122Ter)
NM_130837.3(OPA1):c.460A>T (p.Lys154Ter)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter) rs761743852
NM_130839.5(UBE3A):c.1969C>T (p.Gln657Ter) rs2077173386
NM_130839.5(UBE3A):c.535C>T (p.Gln179Ter) rs2080305309
NM_133433.4(NIPBL):c.3222_3223insT (p.Lys1075Ter) rs1746070254
NM_133497.4(KCNV2):c.1211T>C (p.Leu404Pro) rs1819808781
NM_133497.4(KCNV2):c.741G>A (p.Trp247Ter) rs2130861136
NM_138387.4(G6PC3):c.680_682del (p.Ser227_Ile228delinsPhe) rs2050086931
NM_138387.4(G6PC3):c.684del (p.Ser229fs) rs2050087074
NM_138393.4(REEP6):c.255G>A (p.Trp85Ter) rs1488236066
NM_138459.5(NUS1):c.128_141del (p.Ala43fs)
NM_138459.5(NUS1):c.48_49del (p.Cys17fs)
NM_138576.4(BCL11B):c.1460_1485del (p.Arg487fs) rs1886468876
NM_138576.4(BCL11B):c.1852C>T (p.Gln618Ter)
NM_138576.4(BCL11B):c.1887_1893del (p.Gly630fs) rs2139755925
NM_138576.4(BCL11B):c.1916_1917dup (p.Gly640fs) rs2139755728
NM_138927.4(SON):c.3038dup (p.Tyr1013Ter) rs2085815855
NM_138927.4(SON):c.3449del (p.Pro1150fs) rs2085834681
NM_138927.4(SON):c.4889_4895del (p.Asp1629_Leu1630insTer) rs2085894212
NM_138927.4(SON):c.4992_4995dup (p.Leu1666fs) rs2085897920
NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)
NM_139058.3(ARX):c.1256_1260del (p.Phe419fs) rs2048682677
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer) rs797045292
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_139125.4(MASP1):c.686del (p.Glu229fs) rs2108551939
NM_139137.4(KCNC2):c.1163T>C (p.Phe388Ser)
NM_144498.4(OSBPL2):c.158_159del (p.Gln53fs) rs1981200603
NM_144596.4(TTC8):c.586_589del (p.Phe196fs) rs2094793430
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) rs104894490
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1305del (p.Phe435fs) rs398124527
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145261.4(DNAJC19):c.102del (p.Lys34fs)
NM_147191.1(MMP21):c.937G>T (p.Glu313Ter) rs1384239050
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152384.3(BBS5):c.420dup (p.Lys141Ter)
NM_152443.3(RDH12):c.226G>A (p.Gly76Arg) rs368489658
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter) rs758842658
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_152564.5(VPS13B):c.2934+1_2934+2del rs180177358
NM_152753.4(SCUBE3):c.1557C>A (p.Cys519Ter) rs1784124318
NM_153252.5(BRWD3):c.3208C>T (p.Gln1070Ter) rs2072632819
NM_153252.5(BRWD3):c.665_666del (p.Ser222fs)
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153682.3(PIGP):c.384del (p.Glu129fs) rs778481061
NM_170606.3(KMT2C):c.10480_10483del (p.Asn3494fs)
NM_170665.4(ATP2A2):c.2165dup (p.Thr723fs) rs1879429695
NM_170665.4(ATP2A2):c.2461del (p.Arg821fs) rs1879537034
NM_170675.5(MEIS2):c.654G>A (p.Trp218Ter)
NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter) rs794728613
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) rs118192199
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172240.3(POC1B):c.1332_1333dup (p.Thr445fs) rs1880707874
NM_173076.3(ABCA12):c.5046_5050del (p.Lys1682fs)
NM_173495.3(PTCHD1):c.1794_1806del (p.Asn599fs) rs1922885735
NM_173685.4(NSMCE2):c.346del (p.Ser116fs) rs757613817
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys) rs869312849
NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys) rs587777357
NM_178857.6(RP1L1):c.2107C>T (p.Arg703Ter) rs775708703
NM_178857.6(RP1L1):c.403C>T (p.Gln135Ter) rs2117226120
NM_181458.4(PAX3):c.1097del (p.Tyr366fs) rs2106071898
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter) rs1555226581
NM_182760.4(SUMF1):c.529G>C (p.Ala177Pro) rs1359106679
NM_182931.3(KMT2E):c.280del (p.Thr94fs) rs1584746915
NM_182931.3(KMT2E):c.3908C>G (p.Ser1303Ter) rs1799182705
NM_182961.4(SYNE1):c.11205del (p.Ile3735fs) rs2154044401
NM_182961.4(SYNE1):c.14813T>A (p.Leu4938Ter) rs2153969039
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter) rs781354327
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter) rs772587027
NM_182961.4(SYNE1):c.1903dup (p.Met635fs)
NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter) rs1554676394
NM_182961.4(SYNE1):c.99del (p.Phe33fs)
NM_183075.3(CYP2U1):c.901dup (p.Ile301fs) rs1288449186
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) rs864309515
NM_194277.3(FRMD7):c.70G>A (p.Gly24Arg) rs137852210
NM_194277.3(FRMD7):c.781C>T (p.Arg261Ter) rs1927850772
NM_194454.3(KRIT1):c.1151_1152insG (p.Ile384fs) rs1796090545
NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter) rs764960797
NM_198239.2(CCN6):c.536_537del (p.Asn178_Cys179insTer) rs1776635075
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs) rs606231137
NM_198880.3(QRICH1):c.418del (p.Gln140fs) rs2106907255
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) rs115352681
NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer) rs2125303672
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) rs62636266
NM_201253.3(CRB1):c.20_23del (p.Asn7fs) rs2125193925
NM_201253.3(CRB1):c.2812C>T (p.Gln938Ter) rs1664775193
NM_201253.3(CRB1):c.2914G>T (p.Glu972Ter) rs1665045248
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201548.5(CERKL):c.1363C>T (p.Gln455Ter) rs928004913
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.10663G>T (p.Glu3555Ter)
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter) rs41314534
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter) rs768062696
NM_206933.4(USH2A):c.1144-2A>T rs2037686445
NM_206933.4(USH2A):c.1150del (p.Tyr384fs)
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs) rs1659891151
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter) rs757525434
NM_206933.4(USH2A):c.12759G>A (p.Trp4253Ter) rs1657973895
NM_206933.4(USH2A):c.12809_12810del (p.Val4270fs)
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13128G>A (p.Trp4376Ter) rs1349682845
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.4(USH2A):c.2649dup (p.Pro884fs) rs2036054600
NM_206933.4(USH2A):c.2710_2720dup (p.Leu908fs) rs755218835
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.4(USH2A):c.5020A>T (p.Lys1674Ter)
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.8240del (p.Pro2747fs) rs1553272201
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs) rs1553268582
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) rs121918279
NM_213599.3(ANO5):c.1517del (p.Ser506fs) rs1854124484
NM_213599.3(ANO5):c.1520del (p.Phe507fs) rs794727158
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu) rs587777574
NR_003137.3(RNU4-2):n.64_65insT
Single allele

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