ClinVar Miner

List of variants reported as pathogenic for hereditary skin disorder

Included ClinVar conditions (768):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7877
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526 0.04986
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_002283.4(KRT85):c.233G>A (p.Arg78His) rs61630004 0.03613
NM_005555.4(KRT6B):c.1495G>A (p.Gly499Ser) rs61746355 0.02504
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02339
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter) rs141784184 0.00584
NR_001566.3(TERC):n.228G>A rs141686314 0.00478
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549 0.00252
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_001363.5(DKC1):c.-142C>G rs199422241 0.00229
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn) rs59328451 0.00116
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_000140.5(FECH):c.801G>A (p.Met267Ile) rs118204037 0.00108
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150 0.00103
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter) rs138597671 0.00092
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) rs138435128 0.00058
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter) rs200002200 0.00054
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys) rs149039053 0.00049
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter) rs146466242 0.00045
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) rs144666367 0.00037
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) rs146902156 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00029
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs) rs1553277702 0.00028
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp) rs121918729 0.00025
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter) rs367810877 0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000431.4(MVK):c.829C>T (p.Arg277Cys) rs104895321 0.00021
NM_000550.3(TYRP1):c.1261+1G>A rs140365820 0.00021
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) rs104894130 0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter) rs114733570 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_153460.4(IL17RC):c.919C>T (p.Gln307Ter) rs143600903 0.00021
NM_001305581.2(LRMDA):c.150dup (p.Ala51fs) rs587776953 0.00020
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) rs142859678 0.00019
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00019
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_022082.4(SLC17A9):c.25C>T (p.Arg9Cys) rs548728088 0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548 0.00016
NM_002510.3(GPNMB):c.565C>T (p.Arg189Ter) rs140352180 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln) rs121912771 0.00015
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_201631.4(TGM5):c.763T>C (p.Trp255Arg) rs115677373 0.00015
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NM_000275.3(OCA2):c.1182+1G>A rs371963034 0.00014
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) rs199766569 0.00014
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter) rs147145234 0.00014
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter) rs753325454 0.00014
NM_173483.4(CYP4F22):c.667C>T (p.Gln223Ter) rs199892192 0.00014
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226 0.00013
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter) rs121434233 0.00013
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter) rs201663789 0.00012
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu) rs121918720 0.00011
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln) rs782604431 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu) rs139497891 0.00011
NM_016180.5(SLC45A2):c.264del (p.Gly89fs) rs775387808 0.00011
NM_025099.6(CTC1):c.680C>T (p.Ala227Val) rs199473673 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_173483.4(CYP4F22):c.59dup (p.Ile21fs) rs531800013 0.00011
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001723.7(DST):c.3383del (p.Ala1128fs) rs1426568243 0.00010
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter) rs567795279 0.00010
NM_003999.3(OSMR):c.2090A>C (p.Lys697Thr) rs387906823 0.00010
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp) rs151325121 0.00010
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00009
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu) rs121917868 0.00009
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000359.3(TGM1):c.427C>T (p.Arg143Cys) rs531650682 0.00009
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) rs193922461 0.00009
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu) rs539590514 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) rs201765587 0.00009
NM_003784.4(SERPINB7):c.522dup (p.Val175fs) rs672601344 0.00009
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) rs147962513 0.00009
NM_198253.3(TERT):c.2320C>T (p.Arg774Ter) rs770066110 0.00009
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) rs387906355 0.00008
NM_018344.6(SLC29A3):c.347T>G (p.Met116Arg) rs267607057 0.00008
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs) rs779746050 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr) rs118203935 0.00008
NM_000140.5(FECH):c.820G>A (p.Asp274Asn) rs146269992 0.00007
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382 0.00007
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_000821.7(GGCX):c.763G>A (p.Val255Met) rs121909683 0.00007
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_001305581.2(LRMDA):c.664C>T (p.Arg222Ter) rs587776952 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NR_003051.3(RMRP):n.-22_-13dup rs1554651507 0.00007
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=) rs201728948 0.00006
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00006
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu) rs150146721 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680 0.00006
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392 0.00006
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000375.3(UROS):c.63+1G>A rs373864821 0.00006
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020 0.00006
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) rs121913020 0.00006
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp) rs104894287 0.00006
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter) rs121912778 0.00006
NM_000821.7(GGCX):c.899C>T (p.Ser300Phe) rs121909684 0.00006
NM_001099287.2(NIPAL4):c.239G>T (p.Gly80Val) rs775903553 0.00006
NM_001099287.2(NIPAL4):c.277+5G>A rs376074083 0.00006
NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg) rs375688767 0.00006
NM_001139.3(ALOX12B):c.1163C>T (p.Ala388Val) rs202128350 0.00006
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653 0.00006
NM_001139.3(ALOX12B):c.1654+3A>G rs371537819 0.00006
NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter) rs368615054 0.00006
NM_001283009.2(RTEL1):c.3110-2A>T rs377461417 0.00006
NM_001723.7(DST):c.3466C>T (p.Arg1156Ter) rs577972555 0.00006
NM_001723.7(DST):c.5086C>T (p.Arg1696Ter) rs528907932 0.00006
NM_002016.2(FLG):c.3905C>A (p.Ser1302Ter) rs754812742 0.00006
NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter) rs180768115 0.00006
NM_002016.2(FLG):c.7264G>T (p.Glu2422Ter) rs374588791 0.00006
NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter) rs564628353 0.00006
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs) rs1194089098 0.00006
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_012275.3(IL36RN):c.104A>G (p.Lys35Arg) rs187015338 0.00006
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619 0.00006
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) rs121918293 0.00006
NM_018344.6(SLC29A3):c.1309G>A (p.Gly437Arg) rs121912584 0.00006
NM_020427.3(SLURP1):c.43T>C (p.Trp15Arg) rs121908318 0.00006
NM_020427.3(SLURP1):c.82del (p.Cys28fs) rs587776601 0.00006
NM_052872.4(IL17F):c.284C>T (p.Ser95Leu) rs748486078 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_148897.3(SDR9C7):c.112G>A (p.Gly38Arg) rs764593071 0.00006
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter) rs148182439 0.00006
NM_173483.4(CYP4F22):c.976C>T (p.Arg326Ter) rs762667660 0.00006
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NR_003051.4(RMRP):n.264G>T rs727502774 0.00006
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980 0.00005
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) rs121434324 0.00005
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp) rs139318843 0.00005
NM_000094.4(COL7A1):c.8803C>T (p.Gln2935Ter) rs767051948 0.00005
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805 0.00005
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) rs80356681 0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000314.8(PTEN):c.802-2A>T rs587782455 0.00005
NM_000400.4(ERCC2):c.1867dup (p.Val623fs) rs756630156 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000431.4(MVK):c.644G>A (p.Arg215Gln) rs104895303 0.00005
NM_000448.3(RAG1):c.256_257del (p.Lys86fs) rs772962160 0.00005
NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr) rs28936677 0.00005
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) rs752509098 0.00005
NM_003784.4(SERPINB7):c.157C>T (p.Gln53Ter) rs199555021 0.00005
NM_004260.4(RECQL4):c.1391-1G>A rs117642173 0.00005
NM_004628.5(XPC):c.877C>T (p.Arg293Ter) rs373519125 0.00005
NM_005213.4(CSTA):c.172C>T (p.Arg58Ter) rs149474339 0.00005
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys) rs201270568 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_017671.5(FERMT1):c.910G>T (p.Glu304Ter) rs146180696 0.00005
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter) rs199840434 0.00005
NM_024666.5(AAGAB):c.370C>T (p.Arg124Ter) rs200564757 0.00005
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550 0.00005
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518 0.00004
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys) rs779942952 0.00004
NM_000123.4(ERCC5):c.2453C>T (p.Ala818Val) rs774078839 0.00004
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576 0.00004
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00004
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) rs118204101 0.00004
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109 0.00004
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565 0.00004
NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter) rs886082025 0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu) rs147736385 0.00004
NM_000359.3(TGM1):c.377G>A (p.Arg126His) rs200491579 0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 0.00004
NM_000359.3(TGM1):c.876+2T>C rs151054393 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531 0.00004
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014 0.00004
NM_000380.4(XPA):c.555+8A>G rs756967163 0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000431.4(MVK):c.442G>A (p.Ala148Thr) rs104895298 0.00004
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332 0.00004
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) rs193922464 0.00004
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys) rs764485070 0.00004
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424 0.00004
NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter) rs780433845 0.00004
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys) rs750066836 0.00004
NM_001139.3(ALOX12B):c.1265C>T (p.Pro422Leu) rs774333332 0.00004
NM_001139.3(ALOX12B):c.1272dup (p.Lys425fs) rs763328506 0.00004
NM_001264.5(CDSN):c.175A>T (p.Lys59Ter) rs387906841 0.00004
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) rs770689762 0.00004
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_001723.7(DST):c.4720C>T (p.Gln1574Ter) rs1277472105 0.00004
NM_001922.5(DCT):c.1407G>A (p.Trp469Ter) rs764655568 0.00004
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter) rs749083759 0.00004
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter) rs777181377 0.00004
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) rs372754256 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008 0.00004
NM_004278.4(PIGL):c.427-1G>A rs770084126 0.00004
NM_004425.4(ECM1):c.1019del (p.Gln340fs) rs778473713 0.00004
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile) rs121909116 0.00004
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) rs757958943 0.00004
NM_004628.5(XPC):c.2074A>T (p.Lys692Ter) rs374117852 0.00004
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145 0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225 0.00004
NM_006846.4(SPINK5):c.2260A>T (p.Lys754Ter) rs750789505 0.00004
NM_006846.4(SPINK5):c.389_392dup (p.Leu132fs) rs756874525 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047 0.00004
NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys) rs371703979 0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_015065.3(EXPH5):c.939del (p.Asn314fs) rs747159785 0.00004
NM_016180.5(SLC45A2):c.1256C>T (p.Pro419Leu) rs530738094 0.00004
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) rs387907067 0.00004
NM_020751.3(COG6):c.511C>T (p.Arg171Ter) rs200177031 0.00004
NM_021628.3(ALOXE3):c.1031A>C (p.Gln344Pro) rs142781546 0.00004
NM_021628.3(ALOXE3):c.397A>G (p.Arg133Gly) rs373520842 0.00004
NM_021628.3(ALOXE3):c.680+1G>A rs764781178 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164 0.00004
NM_025099.6(CTC1):c.1683dup (p.Lys562Ter) rs1053748363 0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_031307.4(PUS3):c.212A>G (p.Tyr71Cys) rs761792490 0.00004
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter) rs200280742 0.00004
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter) rs746384382 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_152468.5(TMC8):c.568C>T (p.Arg190Ter) rs903461633 0.00004
NM_153460.4(IL17RC):c.913C>T (p.Arg305Ter) rs773852926 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_173076.3(ABCA12):c.1300C>T (p.Arg434Ter) rs757520757 0.00004
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NR_003051.4(RMRP):n.196dup rs796065036 0.00004
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=) rs758886532 0.00003
NM_000094.4(COL7A1):c.6501+1G>C rs759644973 0.00003
NM_000094.4(COL7A1):c.682+1G>A rs775288140 0.00003
NM_000097.7(CPOX):c.601G>A (p.Glu201Lys) rs1374394802 0.00003
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val) rs121434571 0.00003
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570 0.00003
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000140.5(FECH):c.314+2T>G rs149067146 0.00003
NM_000165.5(GJA1):c.227G>A (p.Arg76His) rs267606844 0.00003
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) rs538274657 0.00003
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) rs747916314 0.00003
NM_000228.3(LAMB3):c.565-2A>G rs370148688 0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000275.3(OCA2):c.157del (p.Arg53fs) rs758894409 0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000372.5(TYR):c.533G>A (p.Trp178Ter) rs61754360 0.00003
NM_000374.5(UROD):c.636+1G>C rs145195562 0.00003
NM_000374.5(UROD):c.842G>T (p.Gly281Val) rs121918057 0.00003
NM_000375.3(UROS):c.10C>T (p.Leu4Phe) rs121908015 0.00003
NM_000375.3(UROS):c.661-31T>G rs750180293 0.00003
NM_000380.4(XPA):c.331G>T (p.Glu111Ter) rs769255883 0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_000431.4(MVK):c.790C>T (p.Leu264Phe) rs104895315 0.00003
NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp) rs758288006 0.00003
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
NM_000448.3(RAG1):c.2258A>T (p.His753Leu) rs199474687 0.00003
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter) rs754502950 0.00003
NM_000526.5(KRT14):c.1264G>A (p.Glu422Lys) rs58762773 0.00003
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574 0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797 0.00003
NM_001014342.3(FLG2):c.632C>G (p.Ser211Ter) rs1050823116 0.00003
NM_001111.5(ADAR):c.3494T>C (p.Phe1165Ser) rs28936681 0.00003
NM_001127198.5(TMC6):c.744C>A (p.Tyr248Ter) rs121908329 0.00003
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532 0.00003
NM_001139.3(ALOX12B):c.1829C>T (p.Thr610Ile) rs773052129 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro) rs781053760 0.00003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_001651.4(AQP5):c.113C>A (p.Ala38Glu) rs398123054 0.00003
NM_001723.7(DST):c.3748C>T (p.Arg1250Ter) rs779271284 0.00003
NM_001723.7(DST):c.5854C>T (p.Gln1952Ter) rs755388186 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_001922.5(DCT):c.118T>A (p.Cys40Ser) rs370729240 0.00003
NM_002016.2(FLG):c.1063C>T (p.Gln355Ter) rs142991475 0.00003
NM_002016.2(FLG):c.138+1G>C rs756254959 0.00003
NM_002016.2(FLG):c.7189C>T (p.Gln2397Ter) rs535289422 0.00003
NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter) rs528722713 0.00003
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter) rs121909626 0.00003
NM_002016.2(FLG):c.8117C>G (p.Ser2706Ter) rs542799026 0.00003
NM_002016.2(FLG):c.9887C>A (p.Ser3296Ter) rs761212672 0.00003
NM_002461.3(MVD):c.875A>G (p.Asn292Ser) rs755948940 0.00003
NM_003784.4(SERPINB7):c.455-1G>A rs577442939 0.00003
NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu) rs387906822 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_004415.4(DSP):c.4855del (p.Leu1619fs) rs1231490307 0.00003
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092 0.00003
NM_004628.5(XPC):c.622-2A>C rs201940931 0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) rs775380378 0.00003
NM_006363.6(SEC23B):c.689+1G>A rs398124226 0.00003
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter) rs121918224 0.00003
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg) rs797045222 0.00003
NM_006412.4(AGPAT2):c.492+1G>A rs933422777 0.00003
NM_006502.3(POLH):c.1066C>T (p.Arg356Ter) rs559497462 0.00003
NM_006502.3(POLH):c.1078dup (p.Asp360fs) rs1277794845 0.00003
NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881 0.00003
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter) rs777436361 0.00003
NM_006846.4(SPINK5):c.2989C>T (p.Arg997Ter) rs192473445 0.00003
NM_007055.4(POLR3A):c.1572+1G>A rs141484643 0.00003
NM_016180.5(SLC45A2):c.957C>A (p.Tyr319Ter) rs200122644 0.00003
NM_020427.3(SLURP1):c.256G>A (p.Gly86Arg) rs28937888 0.00003
NM_020779.4(WDR35):c.25-2A>G rs397515534 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_024589.3(ROGDI):c.334C>T (p.Gln112Ter) rs372097881 0.00003
NM_024589.3(ROGDI):c.531+5G>C rs749657986 0.00003
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter) rs374877315 0.00003
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs) rs761922947 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) rs748820015 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr) rs770729222 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771 0.00003
NM_173483.4(CYP4F22):c.847C>T (p.Arg283Trp) rs755885838 0.00003
NM_205850.3(SLC24A5):c.641del (p.Leu214fs) rs772398324 0.00003
NM_212550.5(BLOC1S3):c.131C>A (p.Ser44Ter) rs281865115 0.00003
NR_001566.3(TERC):n.37A>G rs199422261 0.00003
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) rs587783037 0.00002
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888 0.00002
NM_000057.4(BLM):c.670C>T (p.Gln224Ter) rs918752814 0.00002
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803 0.00002
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter) rs761927109 0.00002
NM_000094.4(COL7A1):c.497dup (p.Val168fs) rs766902987 0.00002
NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys) rs778035441 0.00002
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838 0.00002
NM_000094.4(COL7A1):c.7068+5G>A rs779875751 0.00002
NM_000094.4(COL7A1):c.7738C>T (p.Arg2580Cys) rs762084565 0.00002
NM_000094.4(COL7A1):c.8038G>A (p.Gly2680Ser) rs370744140 0.00002
NM_000094.4(COL7A1):c.8323G>A (p.Gly2775Ser) rs1333259313 0.00002
NM_000097.7(CPOX):c.1277+3A>G rs370245685 0.00002
NM_000107.3(DDB2):c.818G>A (p.Arg273His) rs121434640 0.00002
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075 0.00002
NM_000195.5(HPS1):c.398+2T>C rs1486224265 0.00002
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) rs281865080 0.00002
NM_000213.5(ITGB4):c.794dup (p.Ala266fs) rs757050033 0.00002
NM_000228.3(LAMB3):c.1063T>C (p.Cys355Arg) rs532875477 0.00002
NM_000228.3(LAMB3):c.1132+5G>A rs770302956 0.00002
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364 0.00002
NM_000275.3(OCA2):c.440dup (p.Ser148fs) rs1057518192 0.00002
NM_000275.3(OCA2):c.565_566del (p.Leu189fs) rs1312967591 0.00002
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs) rs398122905 0.00002
NM_000359.3(TGM1):c.160C>T (p.Arg54Ter) rs140000324 0.00002
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter) rs760429286 0.00002
NM_000359.3(TGM1):c.316C>T (p.Arg106Ter) rs773303931 0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) rs121918727 0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315 0.00002
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000372.5(TYR):c.1037-2A>G rs748901196 0.00002
NM_000372.5(TYR):c.132T>A (p.Ser44Arg) rs755700581 0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363 0.00002
NM_000380.4(XPA):c.555G>C (p.Gln185His) rs746617574 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_000400.4(ERCC2):c.2005del (p.Arg669fs) rs1233791234 0.00002
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352 0.00002
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys) rs104894289 0.00002
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys) rs199474678 0.00002
NM_000448.3(RAG1):c.1682G>A (p.Arg561His) rs104894284 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys) rs28933392 0.00002
NM_000448.3(RAG1):c.2210G>A (p.Arg737His) rs104894286 0.00002
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe) rs149229197 0.00002
NM_000526.5(KRT14):c.612T>A (p.Tyr204Ter) rs60725382 0.00002
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838 0.00002
NM_000821.7(GGCX):c.1538G>A (p.Arg513Lys) rs575528363 0.00002
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp) rs559401066 0.00002
NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg) rs773955314 0.00002
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser) rs142422525 0.00002
NM_001271893.4(TWIST2):c.355C>T (p.Gln119Ter) rs387906973 0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001374623.1(PNPLA1):c.514G>A (p.Asp172Asn) rs373148099 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_001651.4(AQP5):c.562C>T (p.Arg188Cys) rs368292687 0.00002
NM_002461.3(MVD):c.746T>C (p.Phe249Ser) rs761991070 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004425.4(ECM1):c.157C>T (p.Arg53Ter) rs121909115 0.00002
NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) rs1450238352 0.00002
NM_004990.4(MARS1):c.1201G>A (p.Val401Met) rs774447812 0.00002
NM_005213.4(CSTA):c.64A>T (p.Lys22Ter) rs747711488 0.00002
NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter) rs118203901 0.00002
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter) rs201921350 0.00002
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter) rs199939108 0.00002
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter) rs121908926 0.00002
NM_006502.3(POLH):c.490G>T (p.Glu164Ter) rs767433001 0.00002
NM_006502.3(POLH):c.672_673insT (p.Leu225fs) rs772778835 0.00002
NM_006846.4(SPINK5):c.1302+4A>T rs201269335 0.00002
NM_006846.4(SPINK5):c.1888-1G>A rs759255682 0.00002
NM_006846.4(SPINK5):c.2758C>T (p.Arg920Ter) rs776293648 0.00002
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225 0.00002
NM_006846.4(SPINK5):c.374del (p.Thr125fs) rs1419297868 0.00002
NM_006846.4(SPINK5):c.649C>T (p.Arg217Ter) rs367958902 0.00002
NM_006846.4(SPINK5):c.81+2T>A rs1131691490 0.00002
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) rs778985686 0.00002
NM_007055.4(POLR3A):c.3243-2A>G rs1462460124 0.00002
NM_012275.3(IL36RN):c.80T>C (p.Leu27Pro) rs387906914 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_017671.5(FERMT1):c.1718+2T>C rs760256639 0.00002
NM_018344.6(SLC29A3):c.1279G>A (p.Gly427Ser) rs121912583 0.00002
NM_020779.4(WDR35):c.136C>T (p.Gln46Ter) rs767788330 0.00002
NM_020779.4(WDR35):c.1694_1695dup (p.Thr566Ter) rs766096320 0.00002
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=) rs746128772 0.00002
NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser) rs747806672 0.00002
NM_022336.4(EDAR):c.903C>A (p.Cys301Ter) rs199544410 0.00002
NM_022662.4(ANAPC1):c.2705-198C>T rs999743155 0.00002
NM_022836.4(DCLRE1B):c.472C>T (p.Arg158Ter) rs150374247 0.00002
NM_024101.7(MLPH):c.70C>T (p.Arg24Ter) rs140470472 0.00002
NM_025099.6(CTC1):c.1360del (p.Glu454fs) rs748852501 0.00002
NM_025099.6(CTC1):c.2758+1G>T rs200609323 0.00002
NM_025216.3(WNT10A):c.1084T>C (p.Cys362Arg) rs1268725013 0.00002
NM_025216.3(WNT10A):c.311G>A (p.Arg104His) rs374910216 0.00002
NM_025216.3(WNT10A):c.376+1G>A rs561503117 0.00002
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) rs762739726 0.00002
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) rs886039453 0.00002
NM_032383.5(HPS3):c.2589+1G>T rs281865095 0.00002
NM_033305.3(VPS13A):c.2191C>T (p.Arg731Ter) rs771943305 0.00002
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter) rs199807227 0.00002
NM_052989.3(IFT122):c.2668C>T (p.Arg890Ter) rs1039467525 0.00002
NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg) rs781637328 0.00002
NM_138701.4(MPLKIP):c.277del (p.Ser93fs) rs587776532 0.00002
NM_144991.3(TSPEAR):c.1852T>A (p.Tyr618Asn) rs781868760 0.00002
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter) rs779707723 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_148897.3(SDR9C7):c.658C>T (p.Arg220Ter) rs774363396 0.00002
NM_152305.3(POGLUT1):c.835C>T (p.Arg279Trp) rs587777297 0.00002
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser) rs28940568 0.00002
NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp) rs201129618 0.00002
NM_181507.2(HPS5):c.543del (p.Gln181fs) rs755827664 0.00002
NM_183235.3(RAB27A):c.227C>T (p.Ala76Val) rs766632505 0.00002
NM_183235.3(RAB27A):c.239+1G>T rs761810607 0.00002
NM_183235.3(RAB27A):c.239G>C (p.Arg80Thr) rs765369750 0.00002
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933 0.00002
NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter) rs387906802 0.00002
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter) rs121434364 0.00002
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900 0.00001
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) rs121912982 0.00001
NM_000031.6(ALAD):c.820G>A (p.Ala274Thr) rs121912983 0.00001
NM_000031.6(ALAD):c.823G>A (p.Val275Met) rs121912981 0.00001
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter) rs369583279 0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964 0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter) rs1400231534 0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019 0.00001
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024 0.00001
NM_000057.4(BLM):c.3020-258A>G rs1301751251 0.00001
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter) rs1472603091 0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154 0.00001
NM_000057.4(BLM):c.3727dup (p.Thr1243fs) rs367543021 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000062.3(SERPING1):c.1198C>T (p.Arg400Cys) rs201363394 0.00001
NM_000081.4(LYST):c.1507C>T (p.Arg503Ter) rs1558282769 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000082.4(ERCC8):c.1042-2A>G rs372237310 0.00001
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter) rs370657735 0.00001
NM_000094.4(COL7A1):c.1304G>A (p.Trp435Ter) rs375539799 0.00001
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter) rs368007918 0.00001
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter) rs759634066 0.00001
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665 0.00001
NM_000094.4(COL7A1):c.3140-1G>A rs886041187 0.00001
NM_000094.4(COL7A1):c.4011G>A (p.Pro1337=) rs201597369 0.00001
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904 0.00001
NM_000094.4(COL7A1):c.4448G>A (p.Gly1483Asp) rs756217590 0.00001
NM_000094.4(COL7A1):c.4783-1G>A rs371908708 0.00001
NM_000094.4(COL7A1):c.4888C>T (p.Arg1630Ter) rs121912847 0.00001
NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter) rs751535193 0.00001
NM_000094.4(COL7A1):c.4899+31G>A rs370500985 0.00001
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter) rs760063197 0.00001
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu) rs121912845 0.00001
NM_000094.4(COL7A1):c.5108G>A (p.Gly1703Glu) rs770304825 0.00001
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter) rs746053763 0.00001
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp) rs1032335328 0.00001
NM_000094.4(COL7A1):c.5344G>A (p.Gly1782Arg) rs374718902 0.00001
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter) rs886041186 0.00001
NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter) rs1486141784 0.00001
NM_000094.4(COL7A1):c.5869C>T (p.Arg1957Trp) rs747081862 0.00001
NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp) rs121912849 0.00001
NM_000094.4(COL7A1):c.6190G>A (p.Gly2064Arg) rs866061439 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.6686C>T (p.Pro2229Leu) rs1397883643 0.00001
NM_000094.4(COL7A1):c.6767C>T (p.Pro2256Leu) rs1160109522 0.00001
NM_000094.4(COL7A1):c.6781C>T (p.Arg2261Ter) rs772381373 0.00001
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter) rs765027608 0.00001
NM_000094.4(COL7A1):c.7051G>A (p.Gly2351Arg) rs1800013 0.00001
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter) rs121912854 0.00001
NM_000094.4(COL7A1):c.7097G>A (p.Gly2366Asp) rs2043899331 0.00001
NM_000094.4(COL7A1):c.7380+2T>C rs1249145909 0.00001
NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter) rs121912852 0.00001
NM_000094.4(COL7A1):c.7651G>C (p.Gly2551Arg) rs1465411279 0.00001
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg) rs760891216 0.00001
NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter) rs1064793916 0.00001
NM_000094.4(COL7A1):c.7930-1G>C rs757816953 0.00001
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg) rs121912851 0.00001
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter) rs2043645754 0.00001
NM_000094.4(COL7A1):c.8107C>T (p.Arg2703Trp) rs759039839 0.00001
NM_000094.4(COL7A1):c.8109+1G>A rs1050797523 0.00001
NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg) rs121912853 0.00001
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys) rs121912828 0.00001
NM_000094.4(COL7A1):c.977-33A>C rs759455445 0.00001
NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter) rs121913048 0.00001
NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter) rs121434573 0.00001
NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter) rs121434572 0.00001
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903 0.00001
NM_000124.4(ERCC6):c.2830-2A>G rs373227647 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000140.3(FECH):c.1078_1137del rs879255507 0.00001
NM_000140.5(FECH):c.1217G>A (p.Cys406Tyr) rs1324421474 0.00001
NM_000140.5(FECH):c.854A>G (p.Gln285Arg) rs370708663 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser) rs118204106 0.00001
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp) rs118204094 0.00001
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) rs575222284 0.00001
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113 0.00001
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr) rs118204104 0.00001
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter) rs1185127836 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) rs886077189 0.00001
NM_000195.5(HPS1):c.1858-1G>A rs758797992 0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000213.5(ITGB4):c.1684T>C (p.Cys562Arg) rs121912463 0.00001
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755 0.00001
NM_000213.5(ITGB4):c.2524C>T (p.Gln842Ter) rs1191616106 0.00001
NM_000213.5(ITGB4):c.3040C>T (p.Arg1014Trp) rs1164329850 0.00001
NM_000213.5(ITGB4):c.3793+1G>A rs147222357 0.00001
NM_000213.5(ITGB4):c.3977-19T>A rs1434530468 0.00001
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln) rs57758262 0.00001
NM_000228.3(LAMB3):c.1594C>T (p.Arg532Ter) rs757145297 0.00001
NM_000228.3(LAMB3):c.2188C>T (p.Gln730Ter) rs1350303547 0.00001
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter) rs759518184 0.00001
NM_000228.3(LAMB3):c.628+42G>A rs587776812 0.00001
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) rs121912482 0.00001
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000275.3(OCA2):c.1044+1G>T rs185504549 0.00001
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) rs373775562 0.00001
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) rs121918171 0.00001
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser) rs763819379 0.00001
NM_000275.3(OCA2):c.1842+1G>T rs387906240 0.00001
NM_000275.3(OCA2):c.2225dup (p.Phe744fs) rs2036555943 0.00001
NM_000275.3(OCA2):c.807+1G>T rs763219039 0.00001
NM_000301.5(PLG):c.988A>G (p.Lys330Glu) rs889957249 0.00001
NM_000314.8(PTEN):c.180del (p.Lys60fs) rs1589640429 0.00001
NM_000314.8(PTEN):c.289C>T (p.Gln97Ter) rs786204928 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000314.8(PTEN):c.523G>A (p.Val175Met) rs1860417734 0.00001
NM_000314.8(PTEN):c.586del (p.His196fs) rs587776670 0.00001
NM_000314.8(PTEN):c.77C>T (p.Thr26Ile) rs786204853 0.00001
NM_000314.8(PTEN):c.79+7A>G rs374331677 0.00001
NM_000353.3(TAT):c.1217C>T (p.Pro406Leu) rs2044180572 0.00001
NM_000353.3(TAT):c.1249C>T (p.Arg417Ter) rs118203916 0.00001
NM_000353.3(TAT):c.1250G>A (p.Arg417Gln) rs757879229 0.00001
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp) rs761817519 0.00001
NM_000353.3(TAT):c.355C>T (p.Arg119Trp) rs758306831 0.00001
NM_000353.3(TAT):c.889C>T (p.Arg297Ter) rs758491525 0.00001
NM_000353.3(TAT):c.916C>T (p.Arg306Ter) rs1316166172 0.00001
NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter) rs1296165092 0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys) rs543521135 0.00001
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser) rs904122716 0.00001
NM_000359.3(TGM1):c.1552del (p.Val518fs) rs1294460452 0.00001
NM_000359.3(TGM1):c.1645+1G>T rs774242987 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter) rs886041950 0.00001
NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter) rs398122904 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter) rs886041250 0.00001
NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys) rs147916609 0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys) rs121918716 0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719 0.00001
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg) rs778635368 0.00001
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter) rs199678720 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter) rs367699137 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys) rs397514525 0.00001
NM_000372.5(TYR):c.1036+1G>A rs763715899 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557 0.00001
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393 0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.658C>T (p.Gln220Ter) rs797046083 0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367 0.00001
NM_000372.5(TYR):c.71G>A (p.Cys24Tyr) rs373333305 0.00001
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
NM_000374.5(UROD):c.494T>G (p.Met165Arg) rs121918063 0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter) rs771824413 0.00001
NM_000374.5(UROD):c.912C>A (p.Asn304Lys) rs121918065 0.00001
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061 0.00001
NM_000375.3(UROS):c.-203T>C rs1554891988 0.00001
NM_000375.3(UROS):c.-26-193C>A rs397515350 0.00001
NM_000375.3(UROS):c.184A>G (p.Thr62Ala) rs28941775 0.00001
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016 0.00001
NM_000380.4(XPA):c.390-1G>C rs750218942 0.00001
NM_000400.4(ERCC2):c.139G>A (p.Gly47Arg) rs1360631927 0.00001
NM_000400.4(ERCC2):c.1963G>T (p.Asp655Tyr) rs1411740455 0.00001
NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter) rs778479250 0.00001
NM_000400.4(ERCC2):c.1996C>T (p.Arg666Trp) rs752510317 0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) rs758439420 0.00001
NM_000400.4(ERCC2):c.2137G>C (p.Gly713Arg) rs121913022 0.00001
NM_000422.3(KRT17):c.280C>T (p.Arg94Cys) rs58730926 0.00001
NM_000424.4(KRT5):c.1406C>G (p.Thr469Ser) rs1264710617 0.00001
NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) rs59115483 0.00001
NM_000431.4(MVK):c.1126G>A (p.Gly376Ser) rs971159663 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000431.4(MVK):c.58C>A (p.His20Asn) rs11544299 0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000431.4(MVK):c.72dup (p.Gly25fs) rs104895322 0.00001
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319 0.00001
NM_000448.3(RAG1):c.1187G>A (p.Arg396His) rs104894291 0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) rs750055861 0.00001
NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln) rs199474684 0.00001
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) rs199474685 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 0.00001
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys) rs104894285 0.00001
NM_000448.3(RAG1):c.1870C>T (p.Arg624Cys) rs199474688 0.00001
NM_000448.3(RAG1):c.1871G>A (p.Arg624His) rs199474680 0.00001
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp) rs199776076 0.00001
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp) rs121918572 0.00001
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln) rs121918569 0.00001
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) rs757797994 0.00001
NM_000448.3(RAG1):c.2867T>C (p.Ile956Thr) rs182385524 0.00001
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) rs121918570 0.00001
NM_000448.3(RAG1):c.2981A>G (p.His994Arg) rs775412266 0.00001
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter) rs773929270 0.00001
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr) rs121918571 0.00001
NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter) rs902350422 0.00001
NM_000494.4(COL17A1):c.1601del (p.Asp534fs) rs753898533 0.00001
NM_000494.4(COL17A1):c.2596G>A (p.Gly866Arg) rs768705886 0.00001
NM_000494.4(COL17A1):c.25C>T (p.Arg9Ter) rs775196743 0.00001
NM_000494.4(COL17A1):c.3676C>T (p.Arg1226Ter) rs121912769 0.00001
NM_000494.4(COL17A1):c.3766+1G>C rs2086256572 0.00001
NM_000526.5(KRT14):c.1130T>C (p.Ile377Thr) rs61536893 0.00001
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter) rs267607391 0.00001
NM_000526.5(KRT14):c.526-2A>C rs200779504 0.00001
NM_000526.5(KRT14):c.766G>T (p.Glu256Ter) rs528295894 0.00001
NM_000526.5(KRT14):c.92del (p.Ile31fs) rs60231560 0.00001
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr) rs768567592 0.00001
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573 0.00001
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter) rs1315729938 0.00001
NM_000536.4(RAG2):c.464T>C (p.Leu155Pro) rs1064793250 0.00001
NM_000536.4(RAG2):c.53G>T (p.Gly18Val) rs1851106893 0.00001
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter) rs748727021 0.00001
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) rs765298019 0.00001
NM_000536.4(RAG2):c.859del (p.Cys287fs) rs754975137 0.00001
NM_000821.7(GGCX):c.1426C>T (p.Arg476Cys) rs121909681 0.00001
NM_000821.7(GGCX):c.1427G>A (p.Arg476His) rs121909682 0.00001
NM_001005337.3(PKP1):c.910C>T (p.Gln304Ter) rs121918354 0.00001
NM_001009606.4(HS3ST6):c.430A>T (p.Thr144Ser) rs746467957 0.00001
NM_001098.3(ACO2):c.76C>T (p.Leu26=) rs1057518832 0.00001
NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg) rs370356566 0.00001
NM_001099287.2(NIPAL4):c.523C>G (p.His175Asp) rs750991783 0.00001
NM_001099287.2(NIPAL4):c.523del (p.His175fs) rs1212378071 0.00001
NM_001099287.2(NIPAL4):c.658G>A (p.Gly220Arg) rs757041309 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448 0.00001
NM_001111.5(ADAR):c.3463C>T (p.Arg1155Trp) rs1044845711 0.00001
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg) rs374936130 0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) rs137852970 0.00001
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter) rs137852975 0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro) rs137852971 0.00001
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter) rs587777606 0.00001
NM_001127.4(AP1B1):c.322C>T (p.Arg108Trp) rs1160266009 0.00001
NM_001127198.5(TMC6):c.1177C>T (p.Gln393Ter) rs776505795 0.00001
NM_001127198.5(TMC6):c.190C>T (p.Gln64Ter) rs1296234074 0.00001
NM_001127198.5(TMC6):c.280C>T (p.Arg94Ter) rs121908327 0.00001
NM_001139.3(ALOX12B):c.1148C>T (p.Thr383Met) rs760428119 0.00001
NM_001139.3(ALOX12B):c.1157G>A (p.Arg386His) rs759484732 0.00001
NM_001139.3(ALOX12B):c.1180G>A (p.Glu394Lys) rs397514529 0.00001
NM_001139.3(ALOX12B):c.1192C>T (p.His398Tyr) rs752176414 0.00001
NM_001139.3(ALOX12B):c.1207C>T (p.His403Tyr) rs397514531 0.00001
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) rs397514527 0.00001
NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp) rs764862348 0.00001
NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln) rs1028050037 0.00001
NM_001139.3(ALOX12B):c.1427A>G (p.Tyr476Cys) rs1977079083 0.00001
NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His) rs763468558 0.00001
NM_001139.3(ALOX12B):c.1495C>T (p.Arg499Cys) rs368323729 0.00001
NM_001139.3(ALOX12B):c.1787C>T (p.Pro596Leu) rs1360781582 0.00001
NM_001139.3(ALOX12B):c.1936G>A (p.Gly646Arg) rs1398340320 0.00001
NM_001139.3(ALOX12B):c.199A>T (p.Ile67Phe) rs397514533 0.00001
NM_001139.3(ALOX12B):c.209A>C (p.His70Pro) rs1978297441 0.00001
NM_001139.3(ALOX12B):c.299C>T (p.Pro100Leu) rs1256507861 0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) rs397514526 0.00001
NM_001139.3(ALOX12B):c.341G>A (p.Arg114Gln) rs745541957 0.00001
NM_001139.3(ALOX12B):c.353-2A>G rs775524204 0.00001
NM_001139.3(ALOX12B):c.371A>T (p.Asp124Val) rs138503921 0.00001
NM_001139.3(ALOX12B):c.47C>T (p.Ser16Leu) rs147784568 0.00001
NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro) rs201575829 0.00001
NM_001139.3(ALOX12B):c.938T>C (p.Ile313Thr) rs1197603391 0.00001
NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg) rs281865550 0.00001
NM_001146.5(ANGPT1):c.355G>T (p.Ala119Ser) rs764987358 0.00001
NM_001218.5(CA12):c.427G>A (p.Glu143Lys) rs267606694 0.00001
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) rs775440641 0.00001
NM_001283.5(AP1S1):c.183-2A>G rs751430853 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001283009.2(RTEL1):c.2089C>T (p.Arg697Ter) rs768188490 0.00001
NM_001283009.2(RTEL1):c.2142-2A>G rs2090696292 0.00001
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter) rs377024903 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001283009.2(RTEL1):c.3766C>T (p.Gln1256Ter) rs1385101139 0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs) rs773025155 0.00001
NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys) rs60687604 0.00001
NM_001354604.2(MITF):c.355-1062G>C rs1236436555 0.00001
NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser) rs281875215 0.00001
NM_001374623.1(PNPLA1):c.100G>A (p.Ala34Thr) rs1182312612 0.00001
NM_001374623.1(PNPLA1):c.335C>A (p.Ser112Tyr) rs369445146 0.00001
NM_001374623.1(PNPLA1):c.464C>T (p.Pro155Leu) rs766188849 0.00001
NM_001374623.1(PNPLA1):c.496C>T (p.Arg166Cys) rs372072356 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_001378687.1(ATP2C1):c.2126+1G>A rs748204512 0.00001
NM_001382347.1(MYO5A):c.2332C>T (p.Arg778Ter) rs764371254 0.00001
NM_001382430.1(AKT1):c.73C>T (p.Arg25Cys) rs397514644 0.00001
NM_001399.5(EDA):c.1013C>T (p.Thr338Met) rs132630321 0.00001
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_001399.5(EDA):c.526+5G>C rs397516664 0.00001
NM_001399.5(EDA):c.866G>A (p.Arg289His) rs876657641 0.00001
NM_001605.3(AARS1):c.2267C>T (p.Thr756Ile) rs769394060 0.00001
NM_001723.7(DST):c.4805T>G (p.Leu1602Ter) rs1487307181 0.00001
NM_001723.7(DST):c.5575C>T (p.Gln1859Ter) rs766044749 0.00001
NM_001753.5(CAV1):c.112G>T (p.Glu38Ter) rs121434501 0.00001
NM_001793.6(CDH3):c.1086G>A (p.Trp362Ter) rs779888126 0.00001
NM_001793.6(CDH3):c.1508G>A (p.Arg503His) rs121434542 0.00001
NM_001793.6(CDH3):c.160+1G>A rs1474181679 0.00001
NM_001793.6(CDH3):c.661C>T (p.Arg221Ter) rs761941770 0.00001
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys) rs104894211 0.00001
NM_001814.6(CTSC):c.1A>G (p.Met1Val) rs886048742 0.00001
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg) rs104894208 0.00001
NM_002016.2(FLG):c.2779C>T (p.Gln927Ter) rs763988476 0.00001
NM_002035.4(KDSR):c.164_166del (p.Gln55_Gly56delinsArg) rs1114167450 0.00001
NM_002035.4(KDSR):c.879G>A (p.Gln293=) rs752611378 0.00001
NM_002204.4(ITGA3):c.1387C>T (p.Arg463Trp) rs797044989 0.00001
NM_002281.4(KRT81):c.1237G>A (p.Glu413Lys) rs57419521 0.00001
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) rs57802288 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_002582.4(PARN):c.1045C>T (p.Arg349Trp) rs754368658 0.00001
NM_002582.4(PARN):c.382C>T (p.Arg128Ter) rs1318821563 0.00001
NM_002582.4(PARN):c.657G>A (p.Trp219Ter) rs1363931577 0.00001
NM_002582.4(PARN):c.918+1G>T rs756132866 0.00001
NM_002582.4(PARN):c.948_949del (p.Val318fs) rs1461036243 0.00001
NM_002640.4(SERPINB8):c.2T>C (p.Met1Thr) rs374612640 0.00001
NM_003002.4(SDHD):c.1A>T (p.Met1Leu) rs104894307 0.00001
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) rs202198133 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter) rs1406641581 0.00001
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp) rs137853232 0.00001
NM_004357.5(CD151):c.493C>T (p.Arg165Ter) rs759213580 0.00001
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter) rs1267435790 0.00001
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956 0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287 0.00001
NM_004415.4(DSP):c.4518del (p.Arg1506fs) rs1289037294 0.00001
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940 0.00001
NM_004415.4(DSP):c.7000C>T (p.Arg2334Ter) rs369482721 0.00001
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) rs1561703331 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004425.4(ECM1):c.1036C>T (p.Gln346Ter) rs121909114 0.00001
NM_004425.4(ECM1):c.507del (p.Arg171fs) rs869025565 0.00001
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_004628.5(XPC):c.2420+2T>C rs778987248 0.00001
NM_004628.5(XPC):c.658C>T (p.Arg220Ter) rs745679643 0.00001
NM_004628.5(XPC):c.739C>T (p.Arg247Ter) rs764321665 0.00001
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr) rs886041240 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) rs1057519725 0.00001
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe) rs121913538 0.00001
NM_005144.5(HR):c.2776+1G>A rs773764015 0.00001
NM_005144.5(HR):c.3034G>A (p.Asp1012Asn) rs121434451 0.00001
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter) rs762738968 0.00001
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter) rs397509404 0.00001
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) rs2020959 0.00001
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg) rs397509403 0.00001
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys) rs59856285 0.00001
NM_005562.3(LAMC2):c.1045C>T (p.Arg349Ter) rs772306395 0.00001
NM_005562.3(LAMC2):c.1067-1G>A rs1558092501 0.00001
NM_005857.5(ZMPSTE24):c.121C>T (p.Gln41Ter) rs121908094 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys) rs587777794 0.00001
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456 0.00001
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223 0.00001
NM_006363.6(SEC23B):c.1781T>G (p.Val594Gly) rs752366963 0.00001
NM_006363.6(SEC23B):c.2150del (p.Ala717fs) rs1334741748 0.00001
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) rs104894093 0.00001
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn) rs764260414 0.00001
NM_006412.4(AGPAT2):c.493-1G>C rs606231168 0.00001
NM_006502.3(POLH):c.1766A>C (p.Lys589Thr) rs121908565 0.00001
NM_006502.3(POLH):c.207del (p.Lys70fs) rs1176350430 0.00001
NM_006502.3(POLH):c.764+1G>A rs772570523 0.00001
NM_006502.3(POLH):c.907C>T (p.Arg303Ter) rs759607901 0.00001
NM_006556.4(PMVK):c.412C>T (p.Arg138Ter) rs745983207 0.00001
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter) rs770933647 0.00001
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs) rs1460026299 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) rs587777177 0.00001
NM_006767.4(LZTR1):c.401-2_401-1del rs769200796 0.00001
NM_006767.4(LZTR1):c.482del (p.Gln161fs) rs1924462309 0.00001
NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter) rs749437251 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006846.4(SPINK5):c.2240+1G>A rs775341740 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_006846.4(SPINK5):c.410+1G>A rs375224787 0.00001
NM_006846.4(SPINK5):c.67A>T (p.Lys23Ter) rs1482249008 0.00001
NM_007055.4(POLR3A):c.1048+5G>T rs890755853 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_007055.4(POLR3A):c.3337-11T>C rs1564613755 0.00001
NM_007055.4(POLR3A):c.3337-5T>A rs368905417 0.00001
NM_007315.4(STAT1):c.1011_1012del (p.Val339fs) rs768767763 0.00001
NM_012232.6(CAVIN1):c.362dup (p.Lys122fs) rs1489315815 0.00001
NM_012275.3(IL36RN):c.28C>T (p.Arg10Ter) rs397514630 0.00001
NM_012275.3(IL36RN):c.304C>T (p.Arg102Trp) rs199932303 0.00001
NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482 0.00001
NM_012388.4(BLOC1S6):c.335dup (p.His112fs) rs762974622 0.00001
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) rs80356758 0.00001
NM_013451.4(MYOF):c.651G>T (p.Arg217Ser) rs1256778304 0.00001
NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr) rs757078301 0.00001
NM_014339.7(IL17RA):c.186G>A (p.Trp62Ter) rs1330723939 0.00001
NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) rs1417500285 0.00001
NM_014753.4(BMS1):c.2789G>A (p.Arg930His) rs587777706 0.00001
NM_015065.3(EXPH5):c.2249C>A (p.Ser750Ter) rs763930645 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) rs267607042 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_016004.5(IFT52):c.293A>G (p.Asn98Ser) rs530999984 0.00001
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter) rs748090019 0.00001
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr) rs886037869 0.00001
NM_016180.5(SLC45A2):c.1280T>C (p.Leu427Pro) rs759043037 0.00001
NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val) rs121912620 0.00001
NM_016180.5(SLC45A2):c.277G>A (p.Asp93Asn) rs751978811 0.00001
NM_016180.5(SLC45A2):c.533_534dup (p.Gly179fs) rs757344228 0.00001
NM_017671.5(FERMT1):c.862C>T (p.Arg288Ter) rs121918294 0.00001
NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln) rs387907066 0.00001
NM_018344.6(SLC29A3):c.1157G>A (p.Arg386Gln) rs397515429 0.00001
NM_018344.6(SLC29A3):c.1228C>T (p.Gln410Ter) rs587780462 0.00001
NM_018344.6(SLC29A3):c.300+1G>A rs587780463 0.00001
NM_018344.6(SLC29A3):c.607T>C (p.Ser203Pro) rs397514626 0.00001
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) rs746408350 0.00001
NM_020159.5(SMARCAD1):c.2263T>C (p.Phe755Leu) rs1306010332 0.00001
NM_020427.3(SLURP1):c.296G>A (p.Cys99Tyr) rs121908320 0.00001
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter) rs1292534396 0.00001
NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter) rs767751856 0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119 0.00001
NM_020779.4(WDR35):c.1559T>C (p.Leu520Pro) rs397515533 0.00001
NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr) rs267607175 0.00001
NM_020894.4(UVSSA):c.367A>T (p.Lys123Ter) rs387907163 0.00001
NM_020894.4(UVSSA):c.94T>C (p.Cys32Arg) rs387907164 0.00001
NM_021628.3(ALOXE3):c.1786-2A>G rs139375856 0.00001
NM_021628.3(ALOXE3):c.271G>T (p.Glu91Ter) rs367827093 0.00001
NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter) rs370031870 0.00001
NM_021628.3(ALOXE3):c.434G>A (p.Arg145His) rs745480657 0.00001
NM_021628.3(ALOXE3):c.923T>C (p.Leu308Pro) rs764052154 0.00001
NM_021628.3(ALOXE3):c.952dup (p.Leu318fs) rs1472087421 0.00001
NM_022082.4(SLC17A9):c.932G>A (p.Arg311Gln) rs606231251 0.00001
NM_022121.5(PERP):c.112del (p.Ser38fs) rs769404975 0.00001
NM_022336.4(EDAR):c.1124G>A (p.Arg375His) rs121908454 0.00001
NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr) rs1310296844 0.00001
NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) rs121908451 0.00001
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys) rs780424781 0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His) rs121908450 0.00001
NM_022336.4(EDAR):c.329A>C (p.Asp110Ala) rs121908455 0.00001
NM_022336.4(EDAR):c.529+1G>A rs1553445945 0.00001
NM_022336.4(EDAR):c.931G>T (p.Glu311Ter) rs1432041144 0.00001
NM_022662.4(ANAPC1):c.4373+1G>A rs1267333057 0.00001
NM_024101.7(MLPH):c.103C>T (p.Arg35Trp) rs119473031 0.00001
NM_024101.7(MLPH):c.104G>A (p.Arg35Gln) rs786205551 0.00001
NM_024589.3(ROGDI):c.117+1G>A rs570952151 0.00001
NM_024589.3(ROGDI):c.250C>T (p.Gln84Ter) rs2082712944 0.00001
NM_024589.3(ROGDI):c.469C>T (p.Arg157Ter) rs387907146 0.00001
NM_024589.3(ROGDI):c.52G>T (p.Glu18Ter) rs1221411185 0.00001
NM_024598.4(USB1):c.243G>A (p.Trp81Ter) rs137853973 0.00001
NM_024666.5(AAGAB):c.481C>T (p.Arg161Ter) rs746488412 0.00001
NM_024666.5(AAGAB):c.870+1G>A rs753247583 0.00001
NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter) rs281865112 0.00001
NM_024747.6(HPS6):c.2038C>T (p.Gln680Ter) rs1131692333 0.00001
NM_024747.6(HPS6):c.223C>T (p.Gln75Ter) rs281865107 0.00001
NM_024747.6(HPS6):c.779G>A (p.Gly260Glu) rs1478574193 0.00001
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter) rs764019241 0.00001
NM_025099.6(CTC1):c.150G>A (p.Trp50Ter) rs202213253 0.00001
NM_025099.6(CTC1):c.1753C>T (p.Gln585Ter) rs952398755 0.00001
NM_025099.6(CTC1):c.2581G>T (p.Glu861Ter) rs1987206904 0.00001
NM_025099.6(CTC1):c.277C>T (p.Gln93Ter) rs767991627 0.00001
NM_025099.6(CTC1):c.440del (p.Ile147fs) rs1196342305 0.00001
NM_025099.6(CTC1):c.670C>T (p.Arg224Ter) rs1169567839 0.00001
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080 0.00001
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter) rs397514660 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025216.3(WNT10A):c.1079G>T (p.Arg360Leu) rs893127185 0.00001
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys) rs318240759 0.00001
NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys) rs764658964 0.00001
NM_025216.3(WNT10A):c.627G>A (p.Trp209Ter) rs1306584103 0.00001
NM_025216.3(WNT10A):c.632G>A (p.Trp211Ter) rs1156948793 0.00001
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg) rs775380022 0.00001
NM_025216.3(WNT10A):c.664G>T (p.Glu222Ter) rs377416834 0.00001
NM_025216.3(WNT10A):c.910A>C (p.Asn304His) rs1434390821 0.00001
NM_025216.3(WNT10A):c.932del (p.Glu311fs) rs1559416138 0.00001
NM_030916.3(NECTIN4):c.851G>A (p.Arg284Gln) rs267606991 0.00001
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) rs774005569 0.00001
NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter) rs104893945 0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) rs755083879 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_032383.5(HPS3):c.2482-2A>G rs397507168 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_032383.5(HPS3):c.728_729insA (p.Ser244fs) rs760577035 0.00001
NM_033305.3(VPS13A):c.3232G>T (p.Glu1078Ter) rs1827161118 0.00001
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter) rs119477053 0.00001
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) rs1055609567 0.00001
NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter) rs771004767 0.00001
NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter) rs148173878 0.00001
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter) rs747399274 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 0.00001
NM_138701.4(MPLKIP):c.430A>G (p.Met144Val) rs137853117 0.00001
NM_138711.6(PPARG):c.362A>G (p.Tyr121Cys) rs1354592503 0.00001
NM_144991.3(TSPEAR):c.1281G>A (p.Trp427Ter) rs782552484 0.00001
NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter) rs954823206 0.00001
NM_147127.5(EVC2):c.1303C>T (p.Gln435Ter) rs1369020144 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045 0.00001
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) rs781623802 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter) rs1282621867 0.00001
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter) rs1715453232 0.00001
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906 0.00001
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) rs144167138 0.00001
NM_147127.5(EVC2):c.3523_3527dup (p.Gln1179fs) rs1560126707 0.00001
NM_147127.5(EVC2):c.3762del (p.Val1255fs) rs1577093258 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147127.5(EVC2):c.62dup (p.Ala22fs) rs1430962566 0.00001
NM_147127.5(EVC2):c.644G>A (p.Trp215Ter) rs1720937470 0.00001
NM_147127.5(EVC2):c.707-2A>G rs1302074641 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.832A>T (p.Lys278Ter) rs942590430 0.00001
NM_147127.5(EVC2):c.848T>G (p.Ile283Arg) rs137852926 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_148897.3(SDR9C7):c.214C>T (p.Arg72Trp) rs530109812 0.00001
NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter) rs749888012 0.00001
NM_152305.3(POGLUT1):c.11G>A (p.Trp4Ter) rs587777293 0.00001
NM_152305.3(POGLUT1):c.652C>T (p.Arg218Ter) rs587777294 0.00001
NM_152305.3(POGLUT1):c.798-2A>C rs587777295 0.00001
NM_152468.5(TMC8):c.1729G>T (p.Glu577Ter) rs764753165 0.00001
NM_152468.5(TMC8):c.175C>T (p.Gln59Ter) rs1598895511 0.00001
NM_152468.5(TMC8):c.94dup (p.Ser32fs) rs1568011732 0.00001
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) rs1555391053 0.00001
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941 0.00001
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter) rs121434313 0.00001
NM_152594.3(SPRED1):c.751C>T (p.Arg251Ter) rs1172820756 0.00001
NM_153717.3(EVC):c.1021C>T (p.Gln341Ter) rs1729663828 0.00001
NM_153717.3(EVC):c.1324C>T (p.Gln442Ter) rs753152908 0.00001
NM_153717.3(EVC):c.1387dup (p.Thr463fs) rs1317662938 0.00001
NM_153717.3(EVC):c.1489C>T (p.Gln497Ter) rs1460597472 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter) rs774949132 0.00001
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter) rs1714132239 0.00001
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358 0.00001
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter) rs374752679 0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.758C>G (p.Ser253Ter) rs762795511 0.00001
NM_153717.3(EVC):c.773dup (p.Tyr258Ter) rs748201094 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter) rs1560323242 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) rs57830985 0.00001
NM_173076.3(ABCA12):c.3889C>T (p.Arg1297Ter) rs114863111 0.00001
NM_173076.3(ABCA12):c.4541G>A (p.Arg1514His) rs28940270 0.00001
NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter) rs137853289 0.00001
NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter) rs199503269 0.00001
NM_173483.4(CYP4F22):c.1064C>T (p.Pro355Leu) rs760727576 0.00001
NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter) rs745368359 0.00001
NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln) rs769229606 0.00001
NM_173483.4(CYP4F22):c.314C>T (p.Pro105Leu) rs749972738 0.00001
NM_173483.4(CYP4F22):c.421+1G>A rs773886415 0.00001
NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys) rs770500550 0.00001
NM_173483.4(CYP4F22):c.467G>A (p.Arg156His) rs776275777 0.00001
NM_173483.4(CYP4F22):c.697A>C (p.Ile233Leu) rs1568361250 0.00001
NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys) rs768098854 0.00001
NM_173483.4(CYP4F22):c.728G>A (p.Arg243His) rs118203937 0.00001
NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp) rs767352854 0.00001
NM_177973.2(SULT2B1):c.821G>A (p.Arg274Gln) rs762765702 0.00001
NM_181507.2(HPS5):c.2593C>T (p.Arg865Ter) rs281865104 0.00001
NM_181507.2(HPS5):c.719G>C (p.Arg240Pro) rs764296457 0.00001
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter) rs1230037871 0.00001
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673 0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs) rs755338751 0.00001
NM_183235.3(RAB27A):c.598C>T (p.Arg200Ter) rs757849893 0.00001
NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter) rs137852757 0.00001
NM_198129.4(LAMA3):c.7204C>T (p.Arg2402Ter) rs777713989 0.00001
NM_198129.4(LAMA3):c.7654C>T (p.Arg2552Ter) rs1181742615 0.00001
NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter) rs774133746 0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) rs772038362 0.00001
NM_198129.4(LAMA3):c.9511+1G>A rs1296034886 0.00001
NM_198253.3(TERT):c.1796G>A (p.Arg599Gln) rs372511089 0.00001
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) rs1060503011 0.00001
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) rs199422301 0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp) rs199422304 0.00001
NM_201384.3(PLEC):c.10573C>T (p.Gln3525Ter) rs781837529 0.00001
NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe) rs782169513 0.00001
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp) rs80338756 0.00001
NM_201384.3(PLEC):c.6664C>T (p.Gln2222Ter) rs1823561323 0.00001
NM_201384.3(PLEC):c.6910C>T (p.Gln2304Ter) rs782107643 0.00001
NM_201384.3(PLEC):c.6970C>T (p.Arg2324Ter) rs1554691029 0.00001
NM_201384.3(PLEC):c.8991C>G (p.Tyr2997Ter) rs1279778532 0.00001
NM_201631.4(TGM5):c.122T>C (p.Leu41Pro) rs143601447 0.00001
NM_201631.4(TGM5):c.640del (p.Leu214fs) rs606231277 0.00001
NR_001566.3(TERC):n.35C>T rs199422260 0.00001
NR_003051.4(RMRP):n.-20_-1dup rs1554651403 0.00001
NR_003051.4(RMRP):n.-21_-13dup rs1563908167 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
11p15.1 deletion
A114N
ATP6V0A2, 1-BP INS, 100A
BSCL2, 258-BP DEL/12-BP INS
C124S
EDA, 1-BP DEL, EX6
EDA, 36-BP DEL, EX5
EGFR, ARG98TER
EGFR, ILE365ASN
G537Y
GRCh37/hg19 10q23.31(chr10:89653441-89654197)
GRCh37/hg19 11q14.3(chr11:88960991-88961138)x160
GRCh37/hg19 17q25.1(chr17:73735514-73739660)
GRCh37/hg19 22q11.22-11.23(chr22:22893189-24177119)
GRCh37/hg19 2p21(chr2:46844284-46844565)
GRCh37/hg19 3q28(chr3:190039387-190040504)
GRCh37/hg19 4q12(chr4:53688710-56491447)
GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0
GRCh37/hg19 8q21.12-21.13(chr8:79982581-80674788)
GRCh37/hg19 8q23.3-24.11(chr8:115662767-117718250)
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0
GRCh37/hg19 Xp22.31(chrX:6497085-7910475)
GRCh37/hg19 Xp22.31(chrX:6497085-8135053)
GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0
GRCh37/hg19 Xp22.31(chrX:6696168-7396902)
GRCh37/hg19 Xp22.31(chrX:6954111-8058641)
GRCh37/hg19 Xp22.31(chrX:6968337-8434424)
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1
GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0
IKBKG, 2-BP DEL, 1182TT
ITGB4, 1-BP DEL, 1150G
KLHL24, 1A-T
KLHL24, 2T-G
LAMA3, ARG1331CYS
LAMA3, IVS35, +1, G-A
LRG_286t1:c.[520G>A];[2711-4_2711-1delCCAG]
MYO5A, 47-BP INS, NT4634
Multiple alleles
NC_000001.10:g.(183205740_183206486)_(183207557_183208498)del
NC_000001.10:g.(235914663_235915304)_(235916575_235918777)del
NC_000001.10:g.(?_154422067)_(154580482_?)del
NC_000001.10:g.(?_235275379)_(236899040_?)del
NC_000001.10:g.(?_235543365)_(235922919_?)del
NC_000001.10:g.(?_235826240)_(235976381_?)del
NC_000001.10:g.(?_235827745)_(235827941_?)del
NC_000001.10:g.(?_235840371)_(235860592_?)del
NC_000001.10:g.(?_235850229)_(235872628_?)del
NC_000001.10:g.(?_235937122)_(235944375_?)del
NC_000001.11:g.(?_235662920)_(235782107_?)del
NC_000001.11:g.236468231_236468234del
NC_000002.11:g.(215928788_?)del
NC_000002.11:g.(?_108604612)_(109579739_?)del
NC_000002.11:g.(?_109513363)_(109524495_?)del
NC_000002.11:g.(?_113816996)_(113820274_?)del
NC_000002.11:g.(?_113817016)_(113890448_?)del
NC_000002.11:g.(?_191835429)_(192012929_?)del
NC_000002.11:g.(?_20153575)_(20153759_?)del
NC_000002.11:g.(?_20188906)_(20189063_?)del
NC_000002.11:g.(?_219745708)_(219747155_?)del
NC_000002.11:g.(?_219745718)_(219757993_?)del
NC_000002.11:g.(?_219754812)_(219757475_?)del
NC_000002.11:g.(?_9645275)_(9650280_?)del
NC_000002.11:g.(?_9663358)_(9666393_?)del
NC_000002.12:g.(?_108894471)_(108989220_?)del
NC_000002.12:g.(?_218880976)_(218893291_?)del
NC_000002.12:g.9523337_9523340del
NC_000003.11:g.(?_129159174)_(129214470_?)del
NC_000003.11:g.(?_48507870)_(50340407_?)del
NC_000003.11:g.(?_69985874)_(69990502_?)del
NC_000003.11:g.(?_69985874)_(70014399_?)del
NC_000003.11:g.(?_70013978)_(70014399_?)del
NC_000003.12:g.169764651G>C rs199422286
NC_000003.12:g.169764994del rs1777964165
NC_000003.12:g.169765299AG[1] rs199422255
NC_000003.12:g.48589471del rs1336602322
NC_000003.12:g.48595347G>A rs2046013117
NC_000004.11:g.(?_2200251)_(5710240_?)del
NC_000004.11:g.(?_4859065)_(4864603_?)del
NC_000004.11:g.(?_4861627)_(4862115_?)del
NC_000004.11:g.(?_4861627)_(6304195_?)del
NC_000004.11:g.(?_4864676)_(4960528_?)del
NC_000004.11:g.(?_5458281)_(5586509_?)del
NC_000004.11:g.(?_5563146)_(5711294_?)del
NC_000004.11:g.(?_5564565)_(5578191_?)del
NC_000004.11:g.(?_5564565)_(5586587_?)del
NC_000004.11:g.(?_5564575)_(5570387_?)del
NC_000004.11:g.(?_5564575)_(5758109_?)del
NC_000004.11:g.(?_5565510)_(5811251_?)del
NC_000004.11:g.(?_5576402)_(5576509_?)del
NC_000004.11:g.(?_5577947)_(5586597_?)del
NC_000004.11:g.(?_5617129)_(5627655_?)del
NC_000004.11:g.(?_5617139)_(5812774_?)del
NC_000004.11:g.(?_5620185)_(5642585_?)del
NC_000004.11:g.(?_5620185)_(5699394_?)del
NC_000004.11:g.(?_5624244)_(5624738_?)del
NC_000004.11:g.(?_5630276)_(5633769_?)del
NC_000004.11:g.(?_5642221)_(5642585_?)del
NC_000004.11:g.(?_5682967)_(5721120_?)del
NC_000004.11:g.(?_5682977)_(5735172_?)del
NC_000004.11:g.(?_5690874)_(5696238_?)del
NC_000004.11:g.(?_5696052)_(5696238_?)del
NC_000004.11:g.(?_5699300)_(5758109_?)del
NC_000004.11:g.(?_5709993)_(5710240_?)del
NC_000004.11:g.(?_5710003)_(5735172_?)del
NC_000004.11:g.(?_5710003)_(5750043_?)del
NC_000004.11:g.(?_5711924)_(5817031_?)del
NC_000004.11:g.(?_5731014)_(5758109_?)del
NC_000004.11:g.(?_5746911)_(5758109_?)del
NC_000004.11:g.(?_5749725)_(5755670_?)del
NC_000004.11:g.(?_5754553)_(5755670_?)del
NC_000004.11:g.(?_5754553)_(5758099_?)del
NC_000004.11:g.(?_5754553)_(5785501_?)del
NC_000004.11:g.(?_5785269)_(5812774_?)del
NC_000004.11:g.(?_5798739)_(5798969_?)del
NC_000004.11:g.(?_5803667)_(5806578_?)del
NC_000004.11:g.(?_5809918)_(5811348_?)del
NC_000004.12:g.(?_54229292)_(54740716_)del
NC_000004.12:g.(?_5562838)_(5758135_?)del
NC_000004.12:g.(?_5562848)_(5565369_?)del
NC_000004.12:g.(?_5568434)_(5568650_?)del
NC_000004.12:g.(?_5689147)_(5689353_?)del
NC_000004.12:g.(?_5729297)_(5758135_?)del
NC_000004.12:g.(?_5797002)_(5797252_?)del
NC_000004.12:g.5719249_5719252del
NC_000004.12:g.5729307del
NC_000005.10:g.(?_1280152)_(1280344_?)del
NC_000005.10:g.(?_218346)_(1295046_?)del
NC_000005.10:g.(?_218349)_(1297373_?)del
NC_000005.10:g.(?_78089373)_(78141339_?)del
NC_000005.9:g.(?_1253843)_(1297488_?)del
NC_000005.9:g.(?_1256219)_(1264507_?)del
NC_000005.9:g.(?_1266569)_(1297488_?)del
NC_000005.9:g.(?_1279790)_(1280463_?)del
NC_000005.9:g.(?_1282524)_(1297488_?)del
NC_000005.9:g.(?_1282603)_(1283866_?)del
NC_000005.9:g.(?_1287194)_(1297488_?)del
NC_000005.9:g.(?_147204224)_(147516554_?)del
NC_000005.9:g.(?_147443360)_(147484583_?)del
NC_000005.9:g.(?_147443608)_(147451803_?)del
NC_000005.9:g.(?_147443608)_(147484583_?)del
NC_000005.9:g.(?_147470708)_(147470811_?)del
NC_000005.9:g.(?_482643)_(1895829_?)del
NC_000005.9:g.(?_76115008)_(78281071_?)del
NC_000005.9:g.(?_77590256)_(77590403_?)del
NC_000006.11:g.(?_56323803)_(56507586_?)del
NC_000006.11:g.(?_56330866)_(56331003_?)del
NC_000006.11:g.(?_7532151)_(7559633_?)del
NC_000006.11:g.(?_7542149)_(7542338_?)del
NC_000006.11:g.(?_7542149)_(7586111_?)del
NC_000006.11:g.(?_7565582)_(7569583_?)del
NC_000006.11:g.(?_7567563)_(7584301_?)del
NC_000006.11:g.(?_7582855)_(7586131_?)del
NC_000006.11:g.(?_7582865)_(7586121_?)del
NC_000006.11:g.(?_7583161)_(7587903_?)del
NC_000006.11:g.(?_7583166)_(7587903_?)del
NC_000006.12:g.(?_7541896)_(7585898_?)del
NC_000006.12:g.(?_7541906)_(7585888_?)del
NC_000006.12:g.(?_7570417)_(7585898_?)del
NC_000006.12:g.(?_7570427)_(7585888_?)del
NC_000007.14:g.(40116368_?)_(?_40134601)del
NC_000008.10:g.(?_116426231)_(116635884_?)del
NC_000008.10:g.(?_116426251)_(116430700_?)del
NC_000008.10:g.(?_116426251)_(120844804_?)del
NC_000008.10:g.(?_116599208)_(116635864_?)del
NC_000008.10:g.(?_116599208)_(116635864_?)dup
NC_000008.10:g.(?_116616080)_(116635884_?)dup
NC_000008.10:g.(?_116635808)_(116635864_?)del
NC_000008.10:g.(?_144295143)_(145701139_?)del
NC_000008.10:g.(?_144990345)_(144996583_?)del
NC_000008.10:g.(?_145047551)_(145049537_?)del
NC_000008.11:g.(?_115586981)_(115587624_?)del
NC_000009.12:g.35658021GTCCTCAGCTTC[3] rs1554651400
NC_000009.12:g.35658032_35658041dup rs1554651524
NC_000009.12:g.35658036_35658042dup rs1554651543
NC_000009.12:g.77390734_77428010del
NC_000010.10:g.(89712017_89717609)_(89731688_?)del
NC_000010.10:g.(?_73079047)_(73079087_?)del
NC_000010.10:g.(?_73103946)_(73104068_?)del
NC_000010.10:g.(?_73111299)_(73122365_?)del
NC_000010.10:g.(?_73115818)_(73116020_?)del
NC_000010.10:g.(?_73121691)_(73122365_?)del
NC_000010.10:g.(?_88428449)_(89725229_?)del
NC_000010.10:g.(?_88514773)_(89725229_?)del
NC_000010.10:g.(?_89514444)_(90537999_?)del
NC_000010.10:g.(?_89621800)_(89624340_?)del
NC_000010.10:g.(?_89621800)_(89685324_?)del
NC_000010.10:g.(?_89621800)_(89693018_?)del
NC_000010.10:g.(?_89621800)_(89725321_?)del
NC_000010.10:g.(?_89622928)_(89712026_?)del
NC_000010.10:g.(?_89622928)_(89725229_?)del
NC_000010.10:g.(?_89624218)_(89624340_?)del
NC_000010.10:g.(?_89653772)_(89693018_?)del
NC_000010.10:g.(?_89671794)_(89711969_?)del
NC_000010.10:g.(?_89685260)_(89685324_?)del
NC_000010.10:g.(?_89685260)_(89693018_?)del
NC_000010.10:g.(?_89685260)_(89725321_?)del
NC_000010.10:g.(?_89690793)_(89693018_?)del
NC_000010.10:g.(?_89692750)_(89693028_?)del
NC_000010.10:g.(?_89692750)_(89712036_?)del
NC_000010.10:g.(?_89717600)_(89717786_?)del
NC_000010.10:g.(?_89717600)_(89720885_?)del
NC_000010.10:g.(?_89720519)_(89720783_?)del
NC_000010.10:g.(?_89720641)_(89725321_?)del
NC_000010.10:g.89711945_89711946insAlu
NC_000010.11:g.(?_86755016)_(87965564_?)del
NC_000010.11:g.(?_86875868)_(87894129_?)del
NC_000010.11:g.(?_87552082)_(88768928_?)del
NC_000010.11:g.(?_87863161)_(87894129_?)del
NC_000010.11:g.(?_87863161)_(88948936_?)del
NC_000010.11:g.(?_87863171)_(87864558_?)del
NC_000010.11:g.(?_87894015)_(87894119_?)del
NC_000010.11:g.(?_87894015)_(87965482_?)del
NC_000010.11:g.(?_87894025)_(87894109_?)del
NC_000010.11:g.(?_87925503)_(87965482_?)del
NC_000010.11:g.(?_87931026)_(87958039_?)del
NC_000010.11:g.(?_87931036)_(87931099_?)del
NC_000010.11:g.(?_87931040)_(87933257_?)del
NC_000010.11:g.(?_87952108)_(87952269_?)del
NC_000010.11:g.(?_87952112)_(87952265_?)del
NC_000010.11:g.(?_87960884)_(87961128_?)del
NC_000010.11:g.(?_87960888)_(87961124_?)del
NC_000010.11:g.125815036_125815132del rs2133941461
NC_000010.11:g.68413754_68420303del
NC_000010.11:g.87952119del rs2132268865
NC_000010.11:g.87957853_87957860del
NC_000011.10:g.(?_112086898)_(112094980_?)del
NC_000011.10:g.(?_112086902)_(112094975_?)del
NC_000011.10:g.(?_112088857)_(112094980_?)del
NC_000011.10:g.(?_112094795)_(112094970_?)del
NC_000011.10:g.(?_112094795)_(112094980_?)del
NC_000011.10:g.(?_112094799)_(112094976_?)del
NC_000011.10:g.(?_36573285)_(36598102_?)del
NC_000011.10:g.57597582C>T rs2135304804
NC_000011.9:g.(47238024_47238408)_(47254511_47256123)del
NC_000011.9:g.(88911941_88911969)_(88961139_89017940)del
NC_000011.9:g.(?_111171709)_(111958707_?)del
NC_000011.9:g.(?_111171709)_(111959745_?)del
NC_000011.9:g.(?_111171709)_(111965694_?)del
NC_000011.9:g.(?_111956548)_(111967525_?)del
NC_000011.9:g.(?_111957547)_(111958707_?)del
NC_000011.9:g.(?_111957632)_(111958717_?)del
NC_000011.9:g.(?_111957632)_(111965694_?)del
NC_000011.9:g.(?_111959581)_(111965694_?)del
NC_000011.9:g.(?_36614125)_(36615728_?)del
NC_000011.9:g.(?_88027174)_(88033833_?)del
NC_000011.9:g.(?_88027174)_(88070840_?)del
NC_000011.9:g.(?_88027619)_(88030969_?)del
NC_000011.9:g.(?_88033678)_(88033833_?)del
NC_000011.9:g.(?_88040961)_(88042398_?)del
NC_000011.9:g.(?_88045475)_(88071056_?)del
NC_000011.9:g.(?_88045536)_(88045742_?)del
NC_000011.9:g.(?_88045536)_(88070840_?)del
NC_000012.11:g.(?_110013783)_(110013970_?)del
NC_000012.11:g.(?_110028556)_(110029182_?)del
NC_000012.11:g.(?_110032813)_(110034382_?)del
NC_000012.11:g.(?_110032813)_(110034402_?)del
NC_000013.10:g.(?_20797176)_21105944del
NC_000013.11:g.28659090del rs112368783
NC_000014.8:g.(?_73673074)_(73673200_?)del
NC_000015.10:g.(?_38253166)_(39021201_?)del
NC_000015.10:g.(?_38253180)_(38351670_?)del
NC_000015.10:g.(?_38253186)_(38253227_?)del
NC_000015.10:g.(?_38299363)_(38324819_?)del
NC_000015.10:g.(?_38299373)_(38357249_?)del
NC_000015.10:g.(?_55223869)_(55224032_?)del
NC_000015.10:g.(?_55223869)_(55234954_?)del
NC_000015.10:g.(?_55228589)_(55234954_?)del
NC_000015.10:g.(?_55234762)_(55234954_?)del
NC_000015.10:g.(?_90747383)_(90751956_?)del
NC_000015.10:g.(?_90747393)_(90815279_?)del
NC_000015.10:g.(?_90749357)_(90765424_?)del
NC_000015.10:g.(?_90754801)_(90754948_?)del
NC_000015.10:g.(?_90769123)_(90769596_?)del
NC_000015.10:g.(?_90782812)_(90785091_?)del
NC_000015.10:g.(?_90790639)_(90790854_?)del
NC_000015.10:g.(?_90790643)_(90790850_?)del
NC_000015.10:g.(?_90811195)_(90811416_?)del
NC_000015.10:g.28018399_28018559del rs1555375711
NC_000015.10:g.55224013del
NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del
NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del
NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del
NC_000015.9:g.(?_38545367)_(38545438_?)del
NC_000015.9:g.(?_38545387)_(38545438_?)del
NC_000015.9:g.(?_38545387)_(38591768_?)del
NC_000015.9:g.(?_38545387)_(38643865_?)del
NC_000015.9:g.(?_38591564)_(38591758_?)del
NC_000015.9:g.(?_38591564)_(38632106_?)del
NC_000015.9:g.(?_38591568)_(38643870_?)del
NC_000015.9:g.(?_38614422)_(38617030_?)del
NC_000015.9:g.(?_45884313)_(45898712_?)del
NC_000015.9:g.(?_55497685)_(55527152_?)del
NC_000015.9:g.(?_55520787)_(55522704_?)del
NC_000015.9:g.(?_55522579)_(55522704_?)del
NC_000015.9:g.(?_55526960)_(55613608_?)del
NC_000015.9:g.(?_89379429)_(91312836_?)del
NC_000015.9:g.(?_91289802)_(91292950_?)del
NC_000015.9:g.(?_91290613)_(91312826_?)del
NC_000015.9:g.(?_91290613)_(91354646_?)del
NC_000015.9:g.(?_91290623)_(91290730_?)del
NC_000015.9:g.(?_91290623)_(91293317_?)del
NC_000015.9:g.(?_91290623)_(91298188_?)del
NC_000015.9:g.(?_91290623)_(91308654_?)del
NC_000015.9:g.(?_91290623)_(91341587_?)del
NC_000015.9:g.(?_91295007)_(91295186_?)del
NC_000015.9:g.(?_91298021)_(91298188_?)del
NC_000015.9:g.(?_91303357)_(91312836_?)del
NC_000015.9:g.(?_91312656)_(91316451_?)del
NC_000015.9:g.(?_91326032)_(91326178_?)del
NC_000015.9:g.(?_91333859)_(91334094_?)del
NC_000015.9:g.(?_91333859)_(91337607_?)del
NC_000015.9:g.(?_91337387)_(91354646_?)del
NC_000015.9:g.(?_91341410)_(91341577_?)del
NC_000015.9:g.55514530_55552423dup
NC_000016.10:g.(?_13920156)_(13948357_?)del
NC_000016.10:g.(?_13928022)_(13928241_?)del
NC_000016.10:g.(?_4797440)_(4802591_?)del
NC_000016.10:g.(?_71569834)_(71576435_?)del
NC_000016.9:g.(?_14020398)_(14022112_?)del
NC_000016.9:g.(?_14028029)_(14031735_?)del
NC_000016.9:g.(?_14038570)_(14038702_?)del
NC_000016.9:g.(?_14530574)_(14724045_?)del
NC_000016.9:g.(?_14645858)_(14711527_?)del
NC_000016.9:g.(?_14645858)_(14724045_?)del
NC_000016.9:g.(?_14693741)_(14700403_?)del
NC_000016.9:g.(?_14704491)_(14704676_?)del
NC_000016.9:g.(?_14711427)_(14711527_?)del
NC_000016.9:g.(?_14711427)_(14724045_?)del
NC_000016.9:g.(?_14720953)_(14721203_?)del
NC_000016.9:g.(?_71609815)_(71610328_?)del
NC_000017.10:g.(?_76120014)_(76120748_?)del
NC_000017.10:g.(?_8129271)_(8134741_?)del
NC_000017.10:g.(?_8131498)_(8151354_?)del
NC_000017.10:g.(?_8146283)_(8146486_?)del
NC_000017.10:g.(?_8146283)_(8151354_?)del
NC_000017.11:g.(?_7669603)_(8382316_?)del
NC_000017.11:g.(?_78137697)_(78137834_?)del
NC_000017.11:g.78121677_78121714del
NC_000017.11:g.8017296_8022594del
NC_000019.10:g.35746423del rs1555738837
NC_000019.10:g.35746423dup rs1555738837
NC_000020.10:g.(?_17603729)_(18541384_?)del
NC_000020.10:g.(?_18491480)_(18496400_?)del
NC_000020.10:g.(?_18491480)_(18505684_?)del
NC_000020.10:g.(?_18491480)_(18535837_?)del
NC_000020.10:g.(?_18522920)_(18523066_?)del
NC_000020.10:g.(?_61987307)_(62329916_?)del
NC_000020.10:g.(?_62075992)_(62324656_?)del
NC_000020.10:g.(?_62290746)_(62290867_?)del
NC_000020.10:g.(?_62290746)_(62312082_?)del
NC_000020.10:g.(?_62290756)_(62324646_?)del
NC_000020.10:g.(?_62298812)_(62298916_?)del
NC_000020.10:g.(?_62298812)_(62303984_?)del
NC_000020.10:g.(?_62303889)_(62305466_?)del
NC_000020.10:g.(?_62309478)_(62324656_?)del
NC_000020.10:g.(?_62309478)_(62329916_?)del
NC_000020.10:g.(?_62309488)_(62312082_?)del
NC_000020.10:g.(?_62316856)_(62327211_?)del
NC_000020.11:g.(?_18512225)_(18515736_?)del
NC_000020.11:g.18512225_18512228del
NC_000022.10:g.(?_17565982)_(20052185_?)del
NC_000022.10:g.29758984_29815476del
NC_000022.11:g.(29668447_29671826)_(29681601_?)del
NC_000023.10:g.(153784642_153786697)_(153792726_153814360)del
NC_000023.10:g.(?_152954030)_(154005142_?)del
NC_000023.10:g.(?_68836133)_(69255479_?)del
NC_000023.10:g.(?_68836153)_(68836568_?)del
NC_000023.10:g.(?_68836153)_(69255459_?)del
NC_000023.10:g.(?_68890034)_(69177002_?)del
NC_000023.10:g.(?_68890034)_(69177002_?)dup
NC_000023.10:g.(?_69080668)_(69177002_?)del
NC_000023.10:g.(?_69080668)_(69177002_?)dup
NC_000023.10:g.(?_69176857)_(69255459_?)del
NC_000023.10:g.(?_69235004)_(69247795_?)del
NC_000023.10:g.(?_69243048)_(69247906_?)del
NC_000023.10:g.(?_69243048)_(69255479_?)del
NC_000023.10:g.(?_69255198)_(69255469_?)del
NC_000023.11:g.(154556377_154558531)_(154565046_?)del
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del
NC_000023.11:g.(6500268_6517018)_(7739446_7762747)del
NC_000023.11:g.(6560264_6560764)_(8187691_8193324)del
NC_000023.11:g.(6674278_6675309)_(7911900_7922037)del
NC_000023.11:g.(?_69616225)_(69616454_?)del
NC_000023.11:g.(?_69616289)_(69616724_?)del
NC_000023.11:g.(?_69616289)_(69670280_?)del
NC_000023.11:g.(?_69956687)_(69957126_?)del
NC_000023.11:g.(?_69957007)_(69957152_?)del
NC_000023.11:g.(?_69957007)_(69957152_?)dup
NC_000023.11:g.(?_69957017)_(69957142_?)del
NC_000023.11:g.(?_70035338)_(70035629_?)del
NC_000023.11:g.11106247_11114917del
NC_000023.11:g.70027876_70027911del rs397516665
NC_000023.11:g.70027892_70027919del rs397516667
NC_000023.11:g.70027902_70027919del rs397516668
NC_000023.11:g.70027993_70028027del rs397516670
NC_012920.1(MT-TS1):m.7445A>G rs199474818
NG_007987.1:g.(26429_33751)_(48033_?)del
NG_008093.1:g.9237_9238insAluYa59225_9237dup
NG_008931.2:g.(188110_192927)_(194341_195522)del
NG_008931.2:g.(?_87553)_(87693_?)del
NG_009103.1:g.(13486_?)_(?_81610)del
NG_009625.1:g.(13995_19163)_(19384_21774)del
NG_009846.1:g.103171_225796del
NG_009896.1:g.19984_24446dup
NG_012383.3:g.(70130_86397)_(87002_255549)del
NG_012383.3:g.(70130_86397)_(87002_255549)dup
NG_012383.3:g.(87002_255549)_(259980_?)del
NG_033079.1:g.4675_4964|gom
NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp) rs1555357544
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val) rs63751416
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro) rs63750218
NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val) rs63750929
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) rs661
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe) rs63751316
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.250A>G (p.Met84Val)
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) rs63750450
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn) rs63750730
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) rs63750730
NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser) rs63750550
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser) rs63751278
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr) rs63750004
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) rs63750391
NM_000021.4(PSEN1):c.476A>T (p.Tyr159Phe)
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu) rs63751210
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro) rs63750963
NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser) rs63749806
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp) rs63750311
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp) rs63750082
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val) rs63750053
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) rs1555355250
NM_000021.4(PSEN1):c.640C>A (p.His214Asn) rs63751003
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.725del (p.Pro242fs) rs1595035030
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu) rs1362575880
NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe) rs1898781850
NM_000021.4(PSEN1):c.766T>A (p.Tyr256Asn)
NM_000021.4(PSEN1):c.779C>T (p.Ala260Val) rs63751420
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) rs63750886
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile) rs63749891
NM_000021.4(PSEN1):c.838G>A (p.Glu280Lys) rs2140105309
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) rs63750231
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) rs63750231
NM_000021.4(PSEN1):c.845T>C (p.Leu282Pro)
NM_000021.4(PSEN1):c.869-1G>A rs63750219
NM_000021.4(PSEN1):c.869-2A>G
NM_000021.4(PSEN1):c.869-2A>T rs1566650594
NM_000031.6(ALAD):c.165-11C>A rs749066913
NM_000031.6(ALAD):c.165-11C>T rs749066913
NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter) rs397514730
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs) rs879255567
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs) rs387906473
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs) rs387906472
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.1043dup (p.Met348fs) rs1567038003
NM_000057.4(BLM):c.1051C>T (p.Gln351Ter)
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1093C>T (p.Gln365Ter)
NM_000057.4(BLM):c.1093_1096del (p.Arg364_Gln365insTer) rs2151157115
NM_000057.4(BLM):c.1129del (p.Glu377fs) rs1555419710
NM_000057.4(BLM):c.1154del (p.Thr385fs)
NM_000057.4(BLM):c.1173_1180dup (p.Leu394Ter) rs1596228957
NM_000057.4(BLM):c.1176dup (p.Leu393fs) rs1358266880
NM_000057.4(BLM):c.1180_1181del (p.Leu394fs) rs758132052
NM_000057.4(BLM):c.1195G>T (p.Glu399Ter)
NM_000057.4(BLM):c.1204dup (p.Gln402fs)
NM_000057.4(BLM):c.1220+3A>G rs1429490877
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr) rs1350192744
NM_000057.4(BLM):c.1231_1232delinsTA (p.Leu411Ter)
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter) rs887921909
NM_000057.4(BLM):c.1237_1240del (p.Thr412_Glu413insTer)
NM_000057.4(BLM):c.124_127del (p.Ser42fs)
NM_000057.4(BLM):c.1254_1255del (p.Lys418_Ser419insTer) rs1895946786
NM_000057.4(BLM):c.1255del (p.Ser419fs) rs1895946786
NM_000057.4(BLM):c.1289_1290insAT (p.Tyr430Ter) rs749512704
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)
NM_000057.4(BLM):c.1290_1291delinsATCAGGCCTCCATAG (p.Tyr430_Arg431delinsTer)
NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer) rs1555419806
NM_000057.4(BLM):c.1316del (p.Met439fs) rs1555419829
NM_000057.4(BLM):c.1341del (p.Asn448fs) rs2151158046
NM_000057.4(BLM):c.1346del (p.Ser449fs) rs2151158066
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter) rs730881428
NM_000057.4(BLM):c.1361del (p.Asn454fs) rs2151158091
NM_000057.4(BLM):c.1374del (p.Ser460fs)
NM_000057.4(BLM):c.1399dup (p.Asp467fs) rs1555419862
NM_000057.4(BLM):c.1410_1413del (p.Thr471fs) rs2151158165
NM_000057.4(BLM):c.1427del (p.Lys476fs)
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs) rs1555419873
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs)
NM_000057.4(BLM):c.1440dup (p.Ala481fs) rs1596229894
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
NM_000057.4(BLM):c.1462G>T (p.Glu488Ter) rs1477193473
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1487del (p.Leu496fs) rs2151158316
NM_000057.4(BLM):c.1489C>T (p.Gln497Ter) rs2151158321
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) rs2151158332
NM_000057.4(BLM):c.1535dup (p.Asn515fs) rs2151158428
NM_000057.4(BLM):c.1537A>T (p.Lys513Ter)
NM_000057.4(BLM):c.1544del (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1546G>T (p.Glu516Ter) rs1596230118
NM_000057.4(BLM):c.1549dup (p.Ser517fs) rs1555419902
NM_000057.4(BLM):c.1565del (p.Gly522fs) rs1895965271
NM_000057.4(BLM):c.1603A>T (p.Lys535Ter)
NM_000057.4(BLM):c.1622del (p.Asn541fs)
NM_000057.4(BLM):c.1624del (p.Asp542fs) rs747498968
NM_000057.4(BLM):c.1628T>G (p.Leu543Ter) rs367543038
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs) rs1205301894
NM_000057.4(BLM):c.1641_1642insAGAAAGAGAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA (p.Gln548delinsArgLysArgAsnProAlaGlyArgGlyGlySerArgLeuTer) rs2151158659
NM_000057.4(BLM):c.1642_1643insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAACCC (p.Gln548delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer) rs2151158629
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter) rs1356090839
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs) rs1057516361
NM_000057.4(BLM):c.1732A>T (p.Lys578Ter) rs2151158869
NM_000057.4(BLM):c.1752del (p.Gln585fs) rs1555419961
NM_000057.4(BLM):c.175_176del (p.Val59fs) rs2151146787
NM_000057.4(BLM):c.1763del (p.Lys588fs)
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) rs1057516956
NM_000057.4(BLM):c.1765del (p.Glu589fs)
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter) rs138943954
NM_000057.4(BLM):c.1794_1797del (p.Glu598fs) rs2151158979
NM_000057.4(BLM):c.1805C>A (p.Ser602Ter)
NM_000057.4(BLM):c.1817_1818insGT (p.Asp606fs)
NM_000057.4(BLM):c.1820_1821insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu608fs) rs2151159067
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)
NM_000057.4(BLM):c.1832C>G (p.Ser611Ter)
NM_000057.4(BLM):c.1864_1865del (p.Ser622fs) rs2151159180
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter) rs2151160492
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)
NM_000057.4(BLM):c.1921del (p.His641fs)
NM_000057.4(BLM):c.1928del (p.Arg643fs) rs2151160567
NM_000057.4(BLM):c.196_197insCTCTTTTCTAAGGAAGGCAAAACAAAAGCATTTAAAAACTAATTTAATTAAGGTTAAAAATTCATCTGCCGCTGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATAAAGATGTTA (p.Asn66delinsThrLeuPheTer)
NM_000057.4(BLM):c.1977del (p.His660fs)
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) rs762804291
NM_000057.4(BLM):c.1991_1992insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCNNNNNNNNNNACGGGTCGCTGGCGTTGAGCCGCTTTTGCCCCACTCACGTCCGCCGTCCCCCCGGGGCTACACAGCCATAAACCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGG (p.Leu665fs)
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter) rs1596232266
NM_000057.4(BLM):c.2020G>T (p.Glu674Ter)
NM_000057.4(BLM):c.2054_2055del (p.Cys685fs)
NM_000057.4(BLM):c.2074+5G>A rs587779880
NM_000057.4(BLM):c.2078del (p.Gly693fs) rs1896091563
NM_000057.4(BLM):c.2079_2080del (p.Gly693_Gly694insTer)
NM_000057.4(BLM):c.2093_2096dup (p.Tyr699Ter) rs753973474
NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter) rs1896092339
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs)
NM_000057.4(BLM):c.2131_2132del (p.Val711fs) rs2151162445
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2160_2163dup (p.Asp722fs) rs2151162486
NM_000057.4(BLM):c.2167C>T (p.Gln723Ter) rs2151162501
NM_000057.4(BLM):c.2186_2187del (p.Ser729fs)
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2206_2207insTAGA (p.Tyr736fs) rs2151163791
NM_000057.4(BLM):c.2206dup (p.Tyr736fs) rs886051551
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2208T>G (p.Tyr736Ter)
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer) rs1596235791
NM_000057.4(BLM):c.2209C>A (p.Leu737Met)
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter) rs1896146578
NM_000057.4(BLM):c.2225del (p.Thr742fs)
NM_000057.4(BLM):c.2242_2255del (p.Asn748fs)
NM_000057.4(BLM):c.2268del (p.Asp757fs) rs747341586
NM_000057.4(BLM):c.227del (p.Pro76fs) rs1299272913
NM_000057.4(BLM):c.2281_2291del (p.Lys761fs) rs2151163995
NM_000057.4(BLM):c.2284del (p.Leu762fs) rs2151164000
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter) rs2151164019
NM_000057.4(BLM):c.2308-953_2555+4719del
NM_000057.4(BLM):c.230dup (p.Pro78fs)
NM_000057.4(BLM):c.2324_2325del (p.Arg775fs)
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs) rs1567045130
NM_000057.4(BLM):c.2385del (p.Asp795fs) rs2151165798
NM_000057.4(BLM):c.2404C>T (p.Gln802Ter) rs2151165848
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs) rs1567045235
NM_000057.4(BLM):c.2406+2T>G rs367543016
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter) rs1896235438
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter) rs1412341951
NM_000057.4(BLM):c.2411del (p.Gly804fs) rs2151166065
NM_000057.4(BLM):c.2420_2424del (p.Phe807fs)
NM_000057.4(BLM):c.2448del (p.Met816fs) rs1896237929
NM_000057.4(BLM):c.2449_2450insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGGCTCCCTCTCCCTCTCCCGGCGCGCGCTCGCGCTCCCGTGGCCGGGTGCCGCTCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAATGAATATGC (p.Leu817fs)
NM_000057.4(BLM):c.2456del (p.Gln819fs)
NM_000057.4(BLM):c.2493del (p.Thr832fs) rs2151166250
NM_000057.4(BLM):c.2506del (p.Arg836fs) rs1567045531
NM_000057.4(BLM):c.2510_2513dup (p.Gln838fs)
NM_000057.4(BLM):c.2539del (p.Ile847fs) rs770751979
NM_000057.4(BLM):c.2559del (p.Phe853fs) rs2151178019
NM_000057.4(BLM):c.2579del (p.His860fs) rs2151178044
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2592C>G (p.Tyr864Ter) rs1896651394
NM_000057.4(BLM):c.2594_2598del (p.Tyr865fs)
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter) rs1060503989
NM_000057.4(BLM):c.2620del (p.Val874fs)
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter) rs367543039
NM_000057.4(BLM):c.2650_2651del (p.Lys884fs) rs1596250472
NM_000057.4(BLM):c.2664T>A (p.Tyr888Ter)
NM_000057.4(BLM):c.2721dup (p.Leu908fs)
NM_000057.4(BLM):c.2725C>T (p.Gln909Ter) rs1456964727
NM_000057.4(BLM):c.2781del (p.Asp928fs)
NM_000057.4(BLM):c.2791C>T (p.Gln931Ter)
NM_000057.4(BLM):c.2791_2801del (p.Gln931fs)
NM_000057.4(BLM):c.2794C>T (p.Gln932Ter) rs2151179928
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.2809C>T (p.Gln937Ter) rs1596252279
NM_000057.4(BLM):c.2818dup (p.Cys940fs) rs2151179952
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000057.4(BLM):c.2868_2869insTCCG (p.Asp957fs)
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) rs762354041
NM_000057.4(BLM):c.28C>T (p.Gln10Ter)
NM_000057.4(BLM):c.2900del (p.Pro967fs) rs2151184555
NM_000057.4(BLM):c.2917del (p.Tyr973fs) rs2151184585
NM_000057.4(BLM):c.2923C>T (p.Gln975Ter)
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.2926G>T (p.Glu976Ter)
NM_000057.4(BLM):c.2957del (p.Ile986fs)
NM_000057.4(BLM):c.2980del (p.Thr994fs) rs1164844135
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.2991_2995del (p.Val998fs) rs2151184718
NM_000057.4(BLM):c.299dup (p.Arg101fs)
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)
NM_000057.4(BLM):c.3011_3012del (p.Leu1004fs) rs2151184759
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs) rs1555423119
NM_000057.4(BLM):c.301_304del (p.Arg101fs) rs1489224386
NM_000057.4(BLM):c.3026_3041dup (p.His1014fs)
NM_000057.4(BLM):c.3068del (p.Leu1023fs)
NM_000057.4(BLM):c.3069del (p.Leu1023fs)
NM_000057.4(BLM):c.3079_3080del (p.Val1027fs)
NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter) rs1896974524
NM_000057.4(BLM):c.3095dup (p.Asn1032fs)
NM_000057.4(BLM):c.3102_3103delinsAT (p.Glu1035Ter)
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) rs137853153
NM_000057.4(BLM):c.3118C>T (p.Gln1040Ter)
NM_000057.4(BLM):c.311C>A (p.Ser104Ter) rs367543030
NM_000057.4(BLM):c.3125del (p.Leu1042fs) rs1896976755
NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter) rs1188753950
NM_000057.4(BLM):c.3163dup (p.Cys1055fs) rs2151187381
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3171_3172insT (p.His1058fs)
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter) rs367543017
NM_000057.4(BLM):c.3299del (p.Ile1100fs)
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253
NM_000057.4(BLM):c.3367_3368del (p.Ser1123fs) rs2151194158
NM_000057.4(BLM):c.3379C>T (p.Gln1127Ter) rs1897212605
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
NM_000057.4(BLM):c.3467del (p.Asp1156fs)
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3479dup (p.Tyr1160Ter)
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter) rs1596267627
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter)
NM_000057.4(BLM):c.3535del (p.Thr1179fs)
NM_000057.4(BLM):c.3558+1G>A rs148969222
NM_000057.4(BLM):c.3558+2T>C rs1897222054
NM_000057.4(BLM):c.3559-3A>G
NM_000057.4(BLM):c.3564del (p.Phe1189fs) rs1486692931
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs) rs1555424372
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs) rs1567063125
NM_000057.4(BLM):c.3577_3578del (p.Glu1193fs)
NM_000057.4(BLM):c.357_358del (p.Cys120fs) rs748186908
NM_000057.4(BLM):c.3587del (p.Ser1196fs) rs367543018
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.358_359dup (p.Thr121fs)
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)
NM_000057.4(BLM):c.3611del (p.Ala1203_Leu1204insTer)
NM_000057.4(BLM):c.3616del (p.Ala1206fs) rs2151194859
NM_000057.4(BLM):c.3628C>T (p.Gln1210Ter)
NM_000057.4(BLM):c.3634G>T (p.Glu1212Ter) rs1897234496
NM_000057.4(BLM):c.3638del (p.Glu1213fs) rs1057516547
NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter) rs2151194897
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter) rs1897236255
NM_000057.4(BLM):c.3681dup (p.Ser1228fs) rs367543020
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs) rs1234064430
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs) rs1897238597
NM_000057.4(BLM):c.3753del (p.Glu1251fs) rs1275708646
NM_000057.4(BLM):c.3755_3758del (p.Ser1252fs) rs2151198261
NM_000057.4(BLM):c.3758T>G (p.Leu1253Ter) rs2151198266
NM_000057.4(BLM):c.375_376del (p.Pro126fs) rs1895612617
NM_000057.4(BLM):c.3779T>A (p.Leu1260Ter)
NM_000057.4(BLM):c.3784C>T (p.Gln1262Ter)
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
NM_000057.4(BLM):c.3845del (p.Leu1282fs) rs1897350204
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3854_3857del (p.Tyr1285fs) rs2151198369
NM_000057.4(BLM):c.3860_3863del (p.Glu1287fs) rs2151198382
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter) rs2151198389
NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter) rs2151198391
NM_000057.4(BLM):c.3869del (p.Ser1290fs) rs2151198402
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.390del (p.Lys130fs) rs2151147261
NM_000057.4(BLM):c.3960dup (p.Val1321fs) rs1567066891
NM_000057.4(BLM):c.397dup (p.Asp133fs) rs2151147279
NM_000057.4(BLM):c.3991A>T (p.Arg1331Ter)
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4002_4003delinsAT (p.Lys1335Ter)
NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter) rs2151199939
NM_000057.4(BLM):c.440_443del (p.Asp146_Ser147insTer) rs1895617043
NM_000057.4(BLM):c.461G>A (p.Trp154Ter)
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.487del (p.Ser163fs)
NM_000057.4(BLM):c.497C>G (p.Ser166Ter) rs896357448
NM_000057.4(BLM):c.511dup (p.Thr171fs)
NM_000057.4(BLM):c.522_523del (p.His176fs)
NM_000057.4(BLM):c.557C>A (p.Ser186Ter)
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000057.4(BLM):c.566del (p.Gly189fs) rs2151147614
NM_000057.4(BLM):c.572_573del (p.Arg191fs) rs2151147628
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.582_595del (p.Phe194fs)
NM_000057.4(BLM):c.582del (p.Phe194fs) rs367543026
NM_000057.4(BLM):c.583A>T (p.Lys195Ter) rs2151147654
NM_000057.4(BLM):c.589C>T (p.Gln197Ter) rs2151147666
NM_000057.4(BLM):c.604_607del (p.Asn202fs) rs774777021
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.619del (p.Asp207fs) rs1596218981
NM_000057.4(BLM):c.623del (p.Leu208fs) rs2151147765
NM_000057.4(BLM):c.623dup (p.Leu208fs)
NM_000057.4(BLM):c.638_639del (p.Ser212_Ser213insTer)
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
NM_000057.4(BLM):c.689G>A (p.Trp230Ter) rs2151147939
NM_000057.4(BLM):c.700_710del (p.Asp234fs) rs2151147969
NM_000057.4(BLM):c.700_713del (p.Asp234fs) rs1567035745
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.729del (p.Ile243fs)
NM_000057.4(BLM):c.74T>G (p.Leu25Ter) rs1895534883
NM_000057.4(BLM):c.757del (p.Gln253fs) rs2151148137
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
NM_000057.4(BLM):c.760G>T (p.Glu254Ter) rs181892828
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.77_87del (p.Ser26fs)
NM_000057.4(BLM):c.789dup (p.Asp264fs) rs2151148207
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.811_815del (p.Lys271fs)
NM_000057.4(BLM):c.814A>T (p.Lys272Ter)
NM_000057.4(BLM):c.826del (p.Glu276fs) rs2151149553
NM_000057.4(BLM):c.829G>T (p.Glu277Ter) rs1596221020
NM_000057.4(BLM):c.835G>T (p.Glu279Ter) rs1567036566
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer) rs1567036579
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) rs2151145090
NM_000057.4(BLM):c.83del (p.Leu27_Ser28insTer) rs2151145092
NM_000057.4(BLM):c.842del (p.His281fs) rs1895692863
NM_000057.4(BLM):c.855del (p.Val286fs) rs2151149598
NM_000057.4(BLM):c.864del (p.Pro287_Cys288insTer)
NM_000057.4(BLM):c.919G>T (p.Glu307Ter) rs766386787
NM_000057.4(BLM):c.959+2T>C
NM_000057.4(BLM):c.97dup (p.Ser33fs)
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.982del (p.Ser328fs)
NM_000057.4(BLM):c.984del (p.Asp329fs) rs2151152104
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000057.4(BLM):c.993del (p.Glu332fs) rs2151152131
NM_000057.4(BLM):c.[1544dup;2468del]
NM_000057.4(BLM):c.[2265_2268dup;2441T>A]
NM_000057.4(BLM):c.[289C>T;649C>T]
NM_000062.3(SERPING1):c.-161A>G rs1291031675
NM_000062.3(SERPING1):c.-22-155G>T rs1945307391
NM_000062.3(SERPING1):c.-22-1G>A
NM_000062.3(SERPING1):c.1012C>T (p.Gln338Ter) rs1565171906
NM_000062.3(SERPING1):c.1019del (p.Thr339_Leu340insTer) rs2135318396
NM_000062.3(SERPING1):c.1029+1del
NM_000062.3(SERPING1):c.1029+384A>G rs1945416520
NM_000062.3(SERPING1):c.1030-1G>C
NM_000062.3(SERPING1):c.1030-1G>T
NM_000062.3(SERPING1):c.1030delG
NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter) rs1590829609
NM_000062.3(SERPING1):c.1051del (p.His351fs) rs2135324476
NM_000062.3(SERPING1):c.106_107del (p.Ser36fs) rs1590822296
NM_000062.3(SERPING1):c.1070T>A (p.Ile357Asn)
NM_000062.3(SERPING1):c.1094dup (p.His365fs) rs2135324565
NM_000062.3(SERPING1):c.1106del (p.Asp369fs) rs1565173309
NM_000062.3(SERPING1):c.110dup (p.Leu37fs)
NM_000062.3(SERPING1):c.1113del (p.Glu371fs)
NM_000062.3(SERPING1):c.1127_1130dup (p.Val378fs)
NM_000062.3(SERPING1):c.1153A>T (p.Lys385Ter)
NM_000062.3(SERPING1):c.115del (p.Asp39fs)
NM_000062.3(SERPING1):c.1180del (p.Thr394fs) rs1590829763
NM_000062.3(SERPING1):c.1186del (p.Leu395_Leu396insTer) rs2135324746
NM_000062.3(SERPING1):c.1188_1189delinsC (p.Thr397fs)
NM_000062.3(SERPING1):c.1193T>G (p.Leu398Arg) rs1945480328
NM_000062.3(SERPING1):c.1196C>G (p.Pro399Arg)
NM_000062.3(SERPING1):c.120_121del (p.Gly41fs)
NM_000062.3(SERPING1):c.1216del (p.Ser406fs)
NM_000062.3(SERPING1):c.1226T>C (p.Met409Thr)
NM_000062.3(SERPING1):c.1233_1234insTC (p.Ile412fs) rs1945481508
NM_000062.3(SERPING1):c.1247T>A (p.Leu416Ter) rs1565173405
NM_000062.3(SERPING1):c.1249+1G>A rs112565881
NM_000062.3(SERPING1):c.1249+1G>T rs112565881
NM_000062.3(SERPING1):c.1249+2T>C rs2135324885
NM_000062.3(SERPING1):c.1249+2T>G
NM_000062.3(SERPING1):c.124G>T (p.Glu42Ter) rs778625408
NM_000062.3(SERPING1):c.1250-1G>A
NM_000062.3(SERPING1):c.1264del (p.Ser422fs) rs1554996817
NM_000062.3(SERPING1):c.1264dup (p.Ser422fs)
NM_000062.3(SERPING1):c.1265del (p.Ser422fs)
NM_000062.3(SERPING1):c.1268dup (p.Tyr423Ter) rs1554996819
NM_000062.3(SERPING1):c.1269T>A (p.Tyr423Ter) rs750873571
NM_000062.3(SERPING1):c.1269del (p.Ser422_Tyr423insTer)
NM_000062.3(SERPING1):c.1289T>A (p.Leu430Gln) rs281875174
NM_000062.3(SERPING1):c.1289T>C (p.Leu430Pro)
NM_000062.3(SERPING1):c.1289T>G (p.Leu430Arg) rs281875174
NM_000062.3(SERPING1):c.1293del (p.Glu432fs)
NM_000062.3(SERPING1):c.1306del (p.Leu436fs)
NM_000062.3(SERPING1):c.1309C>T (p.Gln437Ter) rs2135327898
NM_000062.3(SERPING1):c.130A>T (p.Lys44Ter)
NM_000062.3(SERPING1):c.1324C>T (p.Gln442Ter)
NM_000062.3(SERPING1):c.1328A>G (p.His443Arg)
NM_000062.3(SERPING1):c.1337_1341del (p.Val446fs)
NM_000062.3(SERPING1):c.1342_1349dup (p.Thr450_Glu451insAsnTer) rs1590831385
NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs) rs1554996833
NM_000062.3(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp) rs606231141
NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu) rs121907949
NM_000062.3(SERPING1):c.1367C>A (p.Ala456Glu)
NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr) rs121907947
NM_000062.3(SERPING1):c.1373C>T (p.Ala458Val) rs1590831432
NM_000062.3(SERPING1):c.1375G>C (p.Ala459Pro)
NM_000062.3(SERPING1):c.1376C>A (p.Ala459Asp)
NM_000062.3(SERPING1):c.1385T>G (p.Ile462Ser) rs763451792
NM_000062.3(SERPING1):c.1396C>A (p.Arg466Ser) rs28940870
NM_000062.3(SERPING1):c.1396C>G (p.Arg466Gly)
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys) rs28940870
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000062.3(SERPING1):c.1417G>A (p.Val473Met) rs956390201
NM_000062.3(SERPING1):c.1420C>T (p.Gln474Ter) rs1565174105
NM_000062.3(SERPING1):c.1423C>T (p.Gln475Ter)
NM_000062.3(SERPING1):c.1429T>C (p.Phe477Leu) rs2135328208
NM_000062.3(SERPING1):c.1430T>C (p.Phe477Ser)
NM_000062.3(SERPING1):c.1442T>C (p.Leu481Pro)
NM_000062.3(SERPING1):c.1446G>A (p.Trp482Ter) rs1590831545
NM_000062.3(SERPING1):c.1450C>T (p.Gln484Ter) rs2135328243
NM_000062.3(SERPING1):c.1466C>G (p.Pro489Arg)
NM_000062.3(SERPING1):c.1477G>C (p.Gly493Arg)
NM_000062.3(SERPING1):c.1478G>A (p.Gly493Glu)
NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter) rs922149386
NM_000062.3(SERPING1):c.1492C>T (p.Pro498Ser)
NM_000062.3(SERPING1):c.1493C>G (p.Pro498Arg)
NM_000062.3(SERPING1):c.172_181del (p.Pro58fs) rs2135308147
NM_000062.3(SERPING1):c.195del (p.Leu65fs) rs1945329402
NM_000062.3(SERPING1):c.197dup (p.Thr67fs) rs2135308182
NM_000062.3(SERPING1):c.1A>C (p.Met1Leu) rs1565168898
NM_000062.3(SERPING1):c.1A>G (p.Met1Val) rs1565168898
NM_000062.3(SERPING1):c.208_212del (p.Ser70fs)
NM_000062.3(SERPING1):c.229A>T (p.Lys77Ter) rs2135308228
NM_000062.3(SERPING1):c.232del (p.Lys77_Ile78insTer) rs2135308232
NM_000062.3(SERPING1):c.285del (p.Thr96fs)
NM_000062.3(SERPING1):c.301C>T (p.Gln101Ter)
NM_000062.3(SERPING1):c.308_311dup (p.Gln104fs)
NM_000062.3(SERPING1):c.310C>T (p.Gln104Ter)
NM_000062.3(SERPING1):c.312dup (p.Pro105fs)
NM_000062.3(SERPING1):c.314_317del (p.Pro105fs) rs1945331796
NM_000062.3(SERPING1):c.330_331insC (p.Thr111fs) rs2135308522
NM_000062.3(SERPING1):c.342_345del (p.Thr115fs) rs1565169621
NM_000062.3(SERPING1):c.346C>T (p.Gln116Ter) rs2135308550
NM_000062.3(SERPING1):c.347del (p.Gln116fs) rs1590822588
NM_000062.3(SERPING1):c.373G>T (p.Gly125Ter)
NM_000062.3(SERPING1):c.377_378del (p.Pro126fs)
NM_000062.3(SERPING1):c.377del (p.Pro126fs)
NM_000062.3(SERPING1):c.382_391dup (p.Ser131fs)
NM_000062.3(SERPING1):c.403_404del (p.His136fs)
NM_000062.3(SERPING1):c.403_418del (p.Ser135fs)
NM_000062.3(SERPING1):c.415G>T (p.Glu139Ter)
NM_000062.3(SERPING1):c.430del (p.Asp144fs) rs1565169693
NM_000062.3(SERPING1):c.437del (p.Leu146fs)
NM_000062.3(SERPING1):c.449C>T (p.Ser150Phe)
NM_000062.3(SERPING1):c.44del (p.Leu15fs)
NM_000062.3(SERPING1):c.461A>G (p.Tyr154Cys) rs281875168
NM_000062.3(SERPING1):c.468del (p.Phe157fs)
NM_000062.3(SERPING1):c.473C>G (p.Ser158Ter)
NM_000062.3(SERPING1):c.506T>C (p.Phe169Ser)
NM_000062.3(SERPING1):c.508del (p.Ser170fs) rs1590822739
NM_000062.3(SERPING1):c.51+1G>T
NM_000062.3(SERPING1):c.51+3A>C
NM_000062.3(SERPING1):c.516del (p.Phe172fs)
NM_000062.3(SERPING1):c.52-1G>A rs886041353
NM_000062.3(SERPING1):c.52-2A>G
NM_000062.3(SERPING1):c.538C>T (p.Gln180Ter) rs2135308831
NM_000062.3(SERPING1):c.539_543delinsT (p.Gln180fs)
NM_000062.3(SERPING1):c.550+1G>C
NM_000062.3(SERPING1):c.550+1G>T rs2135308859
NM_000062.3(SERPING1):c.550+2T>A
NM_000062.3(SERPING1):c.550+5G>A
NM_000062.3(SERPING1):c.550+745_685+308del
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000062.3(SERPING1):c.553G>C (p.Ala185Pro)
NM_000062.3(SERPING1):c.554C>A (p.Ala185Asp)
NM_000062.3(SERPING1):c.55A>T (p.Arg19Ter) rs1565169419
NM_000062.3(SERPING1):c.576_583dup (p.Ser195fs) rs1945353409
NM_000062.3(SERPING1):c.578T>C (p.Leu193Pro)
NM_000062.3(SERPING1):c.586_589del (p.Ile196fs) rs1565170287
NM_000062.3(SERPING1):c.594_600del (p.Tyr199fs)
NM_000062.3(SERPING1):c.597C>G (p.Tyr199Ter) rs121907951
NM_000062.3(SERPING1):c.600dup (p.Lys201fs) rs1590823884
NM_000062.3(SERPING1):c.613T>C (p.Cys205Arg)
NM_000062.3(SERPING1):c.615dup (p.Val206fs) rs1554995260
NM_000062.3(SERPING1):c.622C>T (p.Gln208Ter)
NM_000062.3(SERPING1):c.623dup (p.Ala209fs) rs2135311324
NM_000062.3(SERPING1):c.635dup (p.Phe213fs) rs2135311344
NM_000062.3(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer) rs1554995271
NM_000062.3(SERPING1):c.64dup (p.Ser22fs)
NM_000062.3(SERPING1):c.664_667del (p.Ser222fs)
NM_000062.3(SERPING1):c.666_667del (p.Gln223fs)
NM_000062.3(SERPING1):c.667C>T (p.Gln223Ter)
NM_000062.3(SERPING1):c.673_675del (p.Phe225del) rs2135311395
NM_000062.3(SERPING1):c.674T>C (p.Phe225Ser)
NM_000062.3(SERPING1):c.674_675delinsAA (p.Phe225Ter) rs1565170364
NM_000062.3(SERPING1):c.685+1del
NM_000062.3(SERPING1):c.686-12A>G
NM_000062.3(SERPING1):c.686-1G>A rs1945404833
NM_000062.3(SERPING1):c.689T>C (p.Leu230Pro) rs281875171
NM_000062.3(SERPING1):c.6_13del (p.Ser3fs)
NM_000062.3(SERPING1):c.706T>G (p.Phe236Val)
NM_000062.3(SERPING1):c.707T>C (p.Phe236Ser)
NM_000062.3(SERPING1):c.723dup (p.Thr242fs)
NM_000062.3(SERPING1):c.728T>C (p.Leu243Pro)
NM_000062.3(SERPING1):c.732C>A (p.Tyr244Ter)
NM_000062.3(SERPING1):c.733_736dup (p.Ser246fs) rs2135317617
NM_000062.3(SERPING1):c.743C>G (p.Pro248Arg)
NM_000062.3(SERPING1):c.744dup (p.Arg249fs)
NM_000062.3(SERPING1):c.748_749del (p.Val250fs) rs2135317631
NM_000062.3(SERPING1):c.74del (p.Asn25fs) rs2135307959
NM_000062.3(SERPING1):c.751del (p.Val250_Leu251insTer)
NM_000062.3(SERPING1):c.771_774delinsTCATCAACTGTTGATGAG (p.Asn258fs)
NM_000062.3(SERPING1):c.779_780del (p.Glu260fs)
NM_000062.3(SERPING1):c.779dup (p.Leu261fs) rs2135317696
NM_000062.3(SERPING1):c.785dup (p.Asn263fs) rs2135317718
NM_000062.3(SERPING1):c.787_794dup (p.Trp265Ter)
NM_000062.3(SERPING1):c.793T>C (p.Trp265Arg)
NM_000062.3(SERPING1):c.794G>A (p.Trp265Ter)
NM_000062.3(SERPING1):c.79_85del (p.Thr27fs)
NM_000062.3(SERPING1):c.808_809delinsCAA (p.Thr270fs)
NM_000062.3(SERPING1):c.82dup (p.Ser28fs)
NM_000062.3(SERPING1):c.846del (p.Ser283fs)
NM_000062.3(SERPING1):c.860T>C (p.Leu287Pro)
NM_000062.3(SERPING1):c.860T>G (p.Leu287Arg)
NM_000062.3(SERPING1):c.865CTC[1] (p.Leu290del)
NM_000062.3(SERPING1):c.896G>A (p.Trp299Ter)
NM_000062.3(SERPING1):c.902del (p.Thr301fs) rs1945410259
NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser) rs1590826703
NM_000062.3(SERPING1):c.925A>T (p.Arg309Ter)
NM_000062.3(SERPING1):c.937T>C (p.Phe313Leu)
NM_000062.3(SERPING1):c.941_942insTC (p.Phe315fs) rs2135318252
NM_000062.3(SERPING1):c.950del (p.Asn317fs)
NM_000062.3(SERPING1):c.950dup (p.Asn317fs)
NM_000062.3(SERPING1):c.951dup (p.Ser318fs) rs2135318269
NM_000062.3(SERPING1):c.953C>G (p.Ser318Ter) rs1554995860
NM_000062.3(SERPING1):c.954del (p.Val319fs)
NM_000062.3(SERPING1):c.963del (p.Val322fs)
NM_000062.3(SERPING1):c.971T>G (p.Met324Arg)
NM_000062.3(SERPING1):c.976_979delinsTACCCTGT (p.Asn326fs)
NM_000062.3(SERPING1):c.981_987del (p.Lys328fs)
NM_000062.3(SERPING1):c.983_984delinsC (p.Lys328fs) rs2135318339
NM_000062.3(SERPING1):c.985A>T (p.Lys329Ter) rs1945411910
NM_000081.4(LYST):c.10027C>T (p.Gln3343Ter)
NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)
NM_000081.4(LYST):c.10083del (p.Phe3362fs)
NM_000081.4(LYST):c.10153G>T (p.Gly3385Ter)
NM_000081.4(LYST):c.10206del (p.Thr3402_Met3403insTer)
NM_000081.4(LYST):c.10269_10275del (p.Gly3424fs)
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) rs754616030
NM_000081.4(LYST):c.10360G>T (p.Glu3454Ter)
NM_000081.4(LYST):c.10468G>T (p.Gly3490Ter)
NM_000081.4(LYST):c.10568_10569del (p.Val3523fs)
NM_000081.4(LYST):c.10601C>A (p.Ser3534Ter)
NM_000081.4(LYST):c.10654del (p.Gln3552fs)
NM_000081.4(LYST):c.106G>T (p.Glu36Ter)
NM_000081.4(LYST):c.1082_1083insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTCTAGAGCAGCTTT (p.Leu361delinsPhePhePhePhePhePhePheXaaXaaXaaXaaValPheCysValAlaHisAlaGlySerCysArgProGluLeuPheLeuPheGlyHisLeuGlySerSerLeuTer)
NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)
NM_000081.4(LYST):c.1189A>T (p.Arg397Ter)
NM_000081.4(LYST):c.1202T>G (p.Leu401Ter)
NM_000081.4(LYST):c.130C>T (p.Gln44Ter)
NM_000081.4(LYST):c.1361G>A (p.Trp454Ter)
NM_000081.4(LYST):c.1391del (p.Glu464fs)
NM_000081.4(LYST):c.1406T>A (p.Leu469Ter)
NM_000081.4(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.4(LYST):c.1492A>T (p.Arg498Ter)
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) rs80338645
NM_000081.4(LYST):c.1592dup (p.Asn531fs)
NM_000081.4(LYST):c.1599dup (p.Glu534Ter)
NM_000081.4(LYST):c.1758_1761dup (p.Pro588fs)
NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)
NM_000081.4(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_000081.4(LYST):c.192+1G>A
NM_000081.4(LYST):c.192+2T>C
NM_000081.4(LYST):c.2015dup (p.Tyr672Ter)
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
NM_000081.4(LYST):c.2063G>A (p.Trp688Ter)
NM_000081.4(LYST):c.2158C>T (p.Gln720Ter)
NM_000081.4(LYST):c.236_237del (p.Leu79fs)
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
NM_000081.4(LYST):c.2413del (p.Glu805fs) rs80338647
NM_000081.4(LYST):c.2437C>T (p.Arg813Ter)
NM_000081.4(LYST):c.244dup (p.Leu82fs)
NM_000081.4(LYST):c.2540del (p.Lys847fs)
NM_000081.4(LYST):c.2730_2734del (p.Ser910fs)
NM_000081.4(LYST):c.2832del (p.Ser945fs)
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.3301_3302insCAGGATTTAAACAGAATTTCTCAACCTAAGAGAACTATGAAGGAAGATTTATTATCTTTGGCTATAA (p.Gln1101delinsProGlyPheLysGlnAsnPheSerThrTer)
NM_000081.4(LYST):c.3433del (p.His1145fs)
NM_000081.4(LYST):c.3574G>T (p.Glu1192Ter)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.3736_3737del (p.Glu1246fs)
NM_000081.4(LYST):c.3770T>A (p.Leu1257Ter)
NM_000081.4(LYST):c.3817_3821dup (p.Glu1275fs)
NM_000081.4(LYST):c.3910del (p.Glu1304fs)
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
NM_000081.4(LYST):c.4264del (p.Ala1422fs)
NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter) rs1468055437
NM_000081.4(LYST):c.4322_4325del (p.Glu1441fs)
NM_000081.4(LYST):c.433C>T (p.Arg145Ter)
NM_000081.4(LYST):c.4434G>A (p.Trp1478Ter)
NM_000081.4(LYST):c.4469del (p.Thr1490fs)
NM_000081.4(LYST):c.4479del (p.Gly1494fs)
NM_000081.4(LYST):c.4498_4502del (p.Arg1500fs)
NM_000081.4(LYST):c.4900A>T (p.Lys1634Ter)
NM_000081.4(LYST):c.4978C>T (p.Gln1660Ter)
NM_000081.4(LYST):c.5351_5352insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGAGCATCTT (p.Leu1784delinsPhePhePhePhePhePhePheXaaXaaXaaXaaSerTer)
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
NM_000081.4(LYST):c.5519C>G (p.Ser1840Ter)
NM_000081.4(LYST):c.575del (p.Phe191_Leu192insTer)
NM_000081.4(LYST):c.575dup (p.Leu192fs)
NM_000081.4(LYST):c.5785C>T (p.Gln1929Ter)
NM_000081.4(LYST):c.5881C>T (p.Gln1961Ter)
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.4(LYST):c.6077dup (p.Tyr2026Ter)
NM_000081.4(LYST):c.6078C>G (p.Tyr2026Ter)
NM_000081.4(LYST):c.6187del (p.Arg2063fs)
NM_000081.4(LYST):c.6283C>T (p.Gln2095Ter)
NM_000081.4(LYST):c.6397C>T (p.Gln2133Ter)
NM_000081.4(LYST):c.6676C>T (p.Arg2226Ter)
NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
NM_000081.4(LYST):c.713_714insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGGCGCGGACGGGGAGCCGGGCCCGGAGCCGCCGTCACGGCCGCGACCGCCCCGCGGGGCCGGCCTGGGCCGCGCTCAAACACTGACATTTT (p.Ile237_Leu238insPhePhePhePhePhePhePheXaaXaaXaaXaaGlyArgGlyArgGlyAlaGlyProGlyAlaAlaValThrAlaAlaThrAlaProArgGlyArgProGlyProArgSerAsnThrAspIle)
NM_000081.4(LYST):c.7168C>T (p.Gln2390Ter)
NM_000081.4(LYST):c.7499del (p.Ile2500fs)
NM_000081.4(LYST):c.7645C>T (p.Gln2549Ter)
NM_000081.4(LYST):c.7786C>T (p.Arg2596Ter)
NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter)
NM_000081.4(LYST):c.8122dup (p.Tyr2708fs)
NM_000081.4(LYST):c.8358+2T>C
NM_000081.4(LYST):c.8373_8376del (p.Leu2791fs)
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
NM_000081.4(LYST):c.8536-1G>A
NM_000081.4(LYST):c.8668_8669dup (p.Thr2891fs)
NM_000081.4(LYST):c.8691_8692del (p.Gln2898fs)
NM_000081.4(LYST):c.8760del (p.Ser2920fs)
NM_000081.4(LYST):c.8802-2A>G
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
NM_000081.4(LYST):c.9143del (p.Ser3048fs)
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
NM_000081.4(LYST):c.9239G>A (p.Trp3080Ter)
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_000081.4(LYST):c.934del (p.Ser312fs)
NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)
NM_000081.4(LYST):c.9434_9435dup (p.Leu3146fs)
NM_000081.4(LYST):c.9449del (p.Asn3150fs)
NM_000081.4(LYST):c.9463C>T (p.Arg3155Ter)
NM_000081.4(LYST):c.9600del (p.Glu3201fs)
NM_000081.4(LYST):c.9612T>G (p.Tyr3204Ter)
NM_000081.4(LYST):c.973dup (p.Arg325fs)
NM_000081.4(LYST):c.9838C>T (p.Arg3280Ter)
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
NM_000081.4(LYST):c.9893del (p.Phe3298fs) rs80338668
NM_000081.4(LYST):c.9961dup (p.Val3321fs)
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys) rs281875221
NM_000094.3(COL7A1):c.4603del rs2044824444
NM_000094.3(COL7A1):c.7760del rs2107638590
NM_000094.4(COL7A1):c.126dup (p.Leu43fs) rs2045934591
NM_000094.4(COL7A1):c.1319del (p.Glu440fs) rs1559435706
NM_000094.4(COL7A1):c.1423C>T (p.Gln475Ter) rs1482450152
NM_000094.4(COL7A1):c.1452_1453del (p.Tyr485fs) rs752558942
NM_000094.4(COL7A1):c.1507G>A (p.Gly503Arg) rs2045711151
NM_000094.4(COL7A1):c.1606C>T (p.Gln536Ter)
NM_000094.4(COL7A1):c.1637-1G>A rs886058642
NM_000094.4(COL7A1):c.1758del (p.Ser587fs) rs2045631974
NM_000094.4(COL7A1):c.1A>G (p.Met1Val) rs1064797078
NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter) rs1262422383
NM_000094.4(COL7A1):c.2142A>G (p.Gly714=) rs2045550860
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs) rs2045526309
NM_000094.4(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer) rs1064797079
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.2588C>G (p.Pro863Arg) rs968625343
NM_000094.4(COL7A1):c.267-3C>G rs1559441291
NM_000094.4(COL7A1):c.2708del (p.Glu903fs) rs2107763474
NM_000094.4(COL7A1):c.2722C>T (p.Gln908Ter) rs2045393987
NM_000094.4(COL7A1):c.2722_2723del (p.Gln908fs) rs2045393864
NM_000094.4(COL7A1):c.2737G>A (p.Gly913Arg) rs765353150
NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs) rs2045388619
NM_000094.4(COL7A1):c.2858_2859del (p.Glu953fs) rs2107757949
NM_000094.4(COL7A1):c.2984dup (p.Gly996fs) rs2045352552
NM_000094.4(COL7A1):c.2989C>T (p.Gln997Ter) rs1559423385
NM_000094.4(COL7A1):c.2992+2T>G rs1575476280
NM_000094.4(COL7A1):c.3130C>T (p.Gln1044Ter) rs1205027821
NM_000094.4(COL7A1):c.3148del (p.Arg1050fs) rs2045324382
NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs) rs1235811820
NM_000094.4(COL7A1):c.3277-1G>C rs2045289296
NM_000094.4(COL7A1):c.3294C>G (p.Tyr1098Ter) rs1241474192
NM_000094.4(COL7A1):c.329_332dup (p.Ser111_Tyr112insTer) rs1256976418
NM_000094.4(COL7A1):c.336C>G (p.Tyr112Ter) rs2045866462
NM_000094.4(COL7A1):c.3376_3386del (p.Tyr1126fs) rs765699235
NM_000094.4(COL7A1):c.343_344del (p.Gly115fs) rs1480404745
NM_000094.4(COL7A1):c.3631C>T (p.Gln1211Ter) rs747522386
NM_000094.4(COL7A1):c.3759+1G>T rs2045220016
NM_000094.4(COL7A1):c.3759+2T>G rs2045219860
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.3861del (p.Pro1289fs) rs1575470363
NM_000094.4(COL7A1):c.3894+1G>A rs2107741719
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.4(COL7A1):c.3995G>A (p.Gly1332Asp) rs2045124635
NM_000094.4(COL7A1):c.4011+1G>A rs1553862581
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg) rs1156352791
NM_000094.4(COL7A1):c.4039G>C (p.Gly1347Arg) rs121912833
NM_000094.4(COL7A1):c.4039G>T (p.Gly1347Trp) rs121912833
NM_000094.4(COL7A1):c.4048-1G>T rs2045079112
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.4(COL7A1):c.4119+1G>T rs1575467199
NM_000094.4(COL7A1):c.4120-1G>C rs1299648939
NM_000094.4(COL7A1):c.4128del (p.Gly1377fs) rs1575466699
NM_000094.4(COL7A1):c.4147G>A (p.Gly1383Arg) rs2045046700
NM_000094.4(COL7A1):c.4197+1G>T rs1401166141
NM_000094.4(COL7A1):c.4198G>A (p.Gly1400Ser) rs2107731142
NM_000094.4(COL7A1):c.4233del (p.Gly1412fs) rs1560241522
NM_000094.4(COL7A1):c.4250del (p.Gly1417fs)
NM_000094.4(COL7A1):c.4322del (p.Pro1441fs) rs753185460
NM_000094.4(COL7A1):c.4342-2A>G rs2107727475
NM_000094.4(COL7A1):c.4343G>A (p.Gly1448Asp) rs1202682853
NM_000094.4(COL7A1):c.4401+1G>A rs2044949727
NM_000094.4(COL7A1):c.4434dup (p.Lys1479fs) rs2044929403
NM_000094.4(COL7A1):c.448G>C (p.Gly150Arg) rs757715378
NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs) rs756897026
NM_000094.4(COL7A1):c.4556G>A (p.Gly1519Asp) rs121912835
NM_000094.4(COL7A1):c.4565G>A (p.Gly1522Glu) rs387906605
NM_000094.4(COL7A1):c.4568del (p.Pro1523fs) rs778165989
NM_000094.4(COL7A1):c.4616del (p.Pro1539fs) rs2107717630
NM_000094.4(COL7A1):c.4635+1G>A rs774890570
NM_000094.4(COL7A1):c.476del (p.Ala159fs)
NM_000094.4(COL7A1):c.4783G>C (p.Gly1595Arg) rs121912840
NM_000094.4(COL7A1):c.4827_4834del (p.Gly1610fs) rs2107711734
NM_000094.4(COL7A1):c.4871del (p.Pro1624fs) rs1064797082
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=) rs1560232515
NM_000094.4(COL7A1):c.5017_5018del (p.Gly1673fs) rs2044681542
NM_000094.4(COL7A1):c.5130_5131insCTCAC (p.Thr1711fs) rs2044604844
NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs) rs770456964
NM_000094.4(COL7A1):c.5254_5257delinsTGAATCA (p.Gly1752_Pro1753delinsTer) rs2107698884
NM_000094.4(COL7A1):c.5261dup (p.Gly1755fs) rs1057517723
NM_000094.4(COL7A1):c.5287C>T (p.Arg1763Ter) rs1360704374
NM_000094.4(COL7A1):c.5318G>A (p.Gly1773Asp) rs2107697174
NM_000094.4(COL7A1):c.5324del (p.Pro1775fs)
NM_000094.4(COL7A1):c.5327G>A (p.Gly1776Glu) rs2044551330
NM_000094.4(COL7A1):c.5381G>A (p.Gly1794Glu) rs2044547049
NM_000094.4(COL7A1):c.5390G>A (p.Gly1797Asp) rs2044523630
NM_000094.4(COL7A1):c.5407G>A (p.Gly1803Arg) rs2044522375
NM_000094.4(COL7A1):c.5443G>A (p.Gly1815Arg) rs121912841
NM_000094.4(COL7A1):c.5449C>T (p.Gln1817Ter) rs2044485662
NM_000094.4(COL7A1):c.548del (p.Leu183fs)
NM_000094.4(COL7A1):c.5532+1G>A rs767182886
NM_000094.4(COL7A1):c.5532+1G>T rs767182886
NM_000094.4(COL7A1):c.5532+6T>C rs1186291778
NM_000094.4(COL7A1):c.5561_5565del (p.Gly1854fs) rs2044357264
NM_000094.4(COL7A1):c.5569-11_5569-3del rs2044350714
NM_000094.4(COL7A1):c.5576_5577del (p.Lys1859fs) rs2044349915
NM_000094.4(COL7A1):c.5679del (p.Pro1894fs) rs2107682223
NM_000094.4(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp) rs1057517725
NM_000094.4(COL7A1):c.5755G>A (p.Gly1919Arg) rs2044302053
NM_000094.4(COL7A1):c.5771A>G (p.Gln1924Arg) rs746824716
NM_000094.4(COL7A1):c.5772+1del rs1295547257
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.4(COL7A1):c.5819del (p.Pro1940fs) rs1575442301
NM_000094.4(COL7A1):c.5892_5905del (p.Asp1964fs) rs2044251759
NM_000094.4(COL7A1):c.58_70del (p.Arg20fs) rs2045987838
NM_000094.4(COL7A1):c.5924_5927del (p.Glu1975fs) rs1064797080
NM_000094.4(COL7A1):c.5932C>T (p.Arg1978Ter) rs1368134215
NM_000094.4(COL7A1):c.5944_5945delinsTA (p.Gly1982Ter) rs2044247868
NM_000094.4(COL7A1):c.5959C>T (p.Gln1987Ter)
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.4(COL7A1):c.6008G>A (p.Gly2003Glu) rs2107675162
NM_000094.4(COL7A1):c.6016G>A (p.Gly2006Ser) rs2107675136
NM_000094.4(COL7A1):c.6017G>A (p.Gly2006Asp) rs121912842
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000094.4(COL7A1):c.6025G>A (p.Gly2009Arg) rs2107675021
NM_000094.4(COL7A1):c.6034G>A (p.Gly2012Ser) rs2044234082
NM_000094.4(COL7A1):c.6035G>A (p.Gly2012Asp) rs2107674937
NM_000094.4(COL7A1):c.6041_6042del (p.Gln2014fs) rs2044233322
NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu) rs121912843
NM_000094.4(COL7A1):c.6044G>T (p.Gly2015Val) rs121912843
NM_000094.4(COL7A1):c.6073G>A (p.Gly2025Ser) rs2107674627
NM_000094.4(COL7A1):c.6081del (p.Pro2029fs) rs780623622
NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs) rs780623622
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg) rs762162799
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) rs121912844
NM_000094.4(COL7A1):c.6103del (p.Glu2035fs) rs2107674323
NM_000094.4(COL7A1):c.6110G>A (p.Gly2037Glu) rs121912846
NM_000094.4(COL7A1):c.6110G>T (p.Gly2037Val)
NM_000094.4(COL7A1):c.6118G>A (p.Gly2040Ser) rs121912829
NM_000094.4(COL7A1):c.6119G>A (p.Gly2040Asp) rs2044225406
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000094.4(COL7A1):c.6132_6133insAGGCTC (p.Leu2044_Pro2045insArgLeu) rs2044224449
NM_000094.4(COL7A1):c.6136G>A (p.Gly2046Ser) rs2107674135
NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu) rs1410793870
NM_000094.4(COL7A1):c.6164G>A (p.Gly2055Glu) rs1553854678
NM_000094.4(COL7A1):c.6178_6179del (p.Arg2060fs) rs2044219708
NM_000094.4(COL7A1):c.6181-2A>G rs2044208947
NM_000094.4(COL7A1):c.6182G>T (p.Gly2061Val) rs2044208810
NM_000094.4(COL7A1):c.6191G>A (p.Gly2064Glu) rs2107672816
NM_000094.4(COL7A1):c.6209G>A (p.Gly2070Glu) rs2107672732
NM_000094.4(COL7A1):c.6227G>A (p.Gly2076Asp) rs121912850
NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg) rs2107671960
NM_000094.4(COL7A1):c.6266_6269del (p.Pro2089fs) rs2044195570
NM_000094.4(COL7A1):c.6269del (p.Pro2090fs) rs2044195570
NM_000094.4(COL7A1):c.6280-2_6281del rs2107670544
NM_000094.4(COL7A1):c.6501G>T (p.Pro2167=) rs767539005
NM_000094.4(COL7A1):c.6508C>T (p.Gln2170Ter) rs1461012195
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6573+1G>C rs1575434262
NM_000094.4(COL7A1):c.6573+5G>A rs2107663986
NM_000094.4(COL7A1):c.6574-1G>C rs2044079243
NM_000094.4(COL7A1):c.657del (p.Gly220fs) rs1575494051
NM_000094.4(COL7A1):c.6618+1G>A rs2044077001
NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu) rs781720055
NM_000094.4(COL7A1):c.6662G>C (p.Gly2221Ala) rs200382597
NM_000094.4(COL7A1):c.6670G>T (p.Gly2224Ter) rs373768300
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser) rs2107661505
NM_000094.4(COL7A1):c.6715G>A (p.Gly2239Ser)
NM_000094.4(COL7A1):c.6733G>A (p.Gly2245Ser) rs2107660536
NM_000094.4(COL7A1):c.6745C>T (p.Gln2249Ter) rs769294243
NM_000094.4(COL7A1):c.6751-2_6751-1del rs760460054
NM_000094.4(COL7A1):c.6752G>A (p.Gly2251Glu) rs121912834
NM_000094.4(COL7A1):c.6759_6760del (p.Gly2254fs)
NM_000094.4(COL7A1):c.676C>T (p.Arg226Ter) rs753819164
NM_000094.4(COL7A1):c.6841G>C (p.Gly2281Arg)
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) rs121912839
NM_000094.4(COL7A1):c.6861A>G (p.Gly2287=) rs1315644130
NM_000094.4(COL7A1):c.6900+2T>G rs2044013947
NM_000094.4(COL7A1):c.6900+4A>G rs1057518706
NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=) rs1362309822
NM_000094.4(COL7A1):c.7104+5G>A rs2043898537
NM_000094.4(COL7A1):c.7244dup (p.Met2415fs) rs1336686272
NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter) rs983476178
NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp) rs1189942401
NM_000094.4(COL7A1):c.7272+1G>A rs2107648492
NM_000094.4(COL7A1):c.7272+5G>A rs2043871373
NM_000094.4(COL7A1):c.7283G>T (p.Gly2428Val) rs1247022294
NM_000094.4(COL7A1):c.7300G>A (p.Gly2434Arg) rs2043856489
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter) rs765529435
NM_000094.4(COL7A1):c.7505G>A (p.Gly2502Glu)
NM_000094.4(COL7A1):c.751C>T (p.Gln251Ter) rs1211890738
NM_000094.4(COL7A1):c.7559G>T (p.Gly2520Val) rs2043785663
NM_000094.4(COL7A1):c.7686G>C (p.Lys2562Asn) rs2043771421
NM_000094.4(COL7A1):c.7708del (p.Asp2570fs) rs2107639823
NM_000094.4(COL7A1):c.7756dup (p.Gln2586fs) rs2043739526
NM_000094.4(COL7A1):c.7760G>A (p.Gly2587Asp) rs2043716834
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000094.4(COL7A1):c.7795-2A>G rs2107637442
NM_000094.4(COL7A1):c.7864del (p.Arg2622fs) rs2043688497
NM_000094.4(COL7A1):c.7867G>T (p.Gly2623Cys) rs121912831
NM_000094.4(COL7A1):c.7877G>A (p.Gly2626Asp) rs2107636603
NM_000094.4(COL7A1):c.7885G>C (p.Gly2629Arg) rs2043678898
NM_000094.4(COL7A1):c.7929+2T>C rs113597796
NM_000094.4(COL7A1):c.793C>T (p.Gln265Ter)
NM_000094.4(COL7A1):c.8045A>G (p.Lys2682Arg)
NM_000094.4(COL7A1):c.8103_8104dup (p.Glu2702fs) rs2043642775
NM_000094.4(COL7A1):c.8117del (p.Pro2706fs) rs34040119
NM_000094.4(COL7A1):c.8156G>A (p.Gly2719Asp) rs1164917118
NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val) rs759949767
NM_000094.4(COL7A1):c.8209G>C (p.Gly2737Arg) rs2043632416
NM_000094.4(COL7A1):c.8219G>C (p.Gly2740Ala) rs745691610
NM_000094.4(COL7A1):c.8244del (p.Gly2749fs) rs2107632018
NM_000094.4(COL7A1):c.8278G>A (p.Gly2760Arg) rs1064797081
NM_000094.4(COL7A1):c.8304+1G>A rs759579761
NM_000094.4(COL7A1):c.8329C>T (p.Arg2777Ter) rs886039330
NM_000094.4(COL7A1):c.8357_8358+4del rs2107631188
NM_000094.4(COL7A1):c.8416_8417del (p.Gly2806fs) rs2107628480
NM_000094.4(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000094.4(COL7A1):c.84A>G (p.Arg28=) rs1559444716
NM_000094.4(COL7A1):c.8524_8527+10del rs566181351
NM_000094.4(COL7A1):c.8537_8565del (p.Pro2846fs) rs2043546624
NM_000094.4(COL7A1):c.8572T>C (p.Tyr2858His) rs2043545754
NM_000094.4(COL7A1):c.86-8C>A rs1012398135
NM_000094.4(COL7A1):c.8717del (p.Pro2906fs) rs2043532784
NM_000094.4(COL7A1):c.887del (p.Gly296fs) rs1131691385
NM_000094.4(COL7A1):c.933C>A (p.Tyr311Ter) rs121912830
NM_000094.4(COL7A1):c.976+50_977-39del rs2045775921
NM_000097.7(CPOX):c.478C>T (p.Gln160Ter) rs1576306536
NM_000097.7(CPOX):c.980A>G (p.His327Arg) rs587777271
NM_000107.3(DDB2):c.1187C>A (p.Ser396Ter) rs781655324
NM_000107.3(DDB2):c.730A>G (p.Lys244Glu) rs121434639
NM_000107.3(DDB2):c.919G>T (p.Asp307Tyr) rs121434642
NM_000107.3(DDB2):c.937C>T (p.Arg313Ter) rs121434641
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
NM_000122.2(ERCC3):c.2218-6C>A rs200733704
NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser) rs121913045
NM_000122.2(ERCC3):c.355A>C (p.Thr119Pro) rs121913046
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) rs1404293670
NM_000122.2(ERCC3):c.471+1G>A rs1558964705
NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter) rs138385061
NM_000122.2(ERCC3):c.760C>T (p.Gln254Ter)
NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer) rs866379139
NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.4(ERCC5):c.1173dup (p.Lys392Ter) rs1283214655
NM_000123.4(ERCC5):c.1494del (p.Asp499fs) rs786200920
NM_000123.4(ERCC5):c.1975del (p.Ser659fs) rs1882806435
NM_000123.4(ERCC5):c.215C>A (p.Pro72His) rs121434574
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro) rs121434575
NM_000123.4(ERCC5):c.2606_2607del (p.Val869fs) rs779078202
NM_000123.4(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.4(ERCC5):c.348_352del (p.Arg116fs) rs1242579404
NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp) rs267607281
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs) rs1595382501
NM_000123.4(ERCC5):c.922_923del (p.Leu308fs) rs1882641004
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs) rs1439211546
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs) rs1566911957
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) rs1597631624
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4691G>C (p.Cys1564Ser) rs267606800
NM_000138.5(FBN1):c.4710G>C (p.Trp1570Cys) rs267606799
NM_000138.5(FBN1):c.4710G>T (p.Trp1570Cys) rs267606799
NM_000138.5(FBN1):c.4729T>G (p.Cys1577Gly) rs267606801
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp) rs267606798
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5836del (p.Gln1946fs) rs2141249251
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
NM_000140.5(FECH):c.1049_1052dup (p.Glu351fs)
NM_000140.5(FECH):c.1077+1G>A rs786205245
NM_000140.5(FECH):c.1085T>G (p.Val362Gly) rs118204040
NM_000140.5(FECH):c.1136del (p.Lys379fs) rs764466739
NM_000140.5(FECH):c.1137+3A>G rs202147607
NM_000140.5(FECH):c.1250T>C (p.Phe417Ser) rs118204039
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.5(FECH):c.194+11A>G rs786205247
NM_000140.5(FECH):c.205dup (p.Thr69fs)
NM_000140.5(FECH):c.286C>T (p.Arg96Ter) rs984041251
NM_000140.5(FECH):c.314+6A>C rs786205246
NM_000140.5(FECH):c.40del (p.Ala14fs)
NM_000140.5(FECH):c.553G>A (p.Ala185Thr) rs397514476
NM_000140.5(FECH):c.580_584del (p.Tyr194fs) rs786205248
NM_000140.5(FECH):c.598+1G>T rs1598996309
NM_000140.5(FECH):c.901_902del (p.Trp301fs) rs1430926156
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000165.5(GJA1):c.113G>A (p.Gly38Glu)
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) rs1554200992
NM_000165.5(GJA1):c.120_131del (p.Val41_Ala44del) rs1562173999
NM_000165.5(GJA1):c.131C>T (p.Ala44Val) rs794729675
NM_000165.5(GJA1):c.140A>T (p.Asp47Val) rs1554200995
NM_000165.5(GJA1):c.142G>A (p.Glu48Lys) rs1773899790
NM_000165.5(GJA1):c.154_156dup (p.Phe52dup) rs1582558097
NM_000165.5(GJA1):c.187A>G (p.Asn63Asp)
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.23G>T (p.Gly8Val) rs864309644
NM_000165.5(GJA1):c.286G>A (p.Val96Met) rs28931601
NM_000165.5(GJA1):c.306G>C (p.Lys102Asn) rs1554201011
NM_000165.5(GJA1):c.31C>T (p.Leu11Phe) rs387906616
NM_000165.5(GJA1):c.32T>A (p.Leu11His)
NM_000165.5(GJA1):c.32T>C (p.Leu11Pro) rs121912969
NM_000165.5(GJA1):c.389T>C (p.Ile130Thr) rs1554201017
NM_000165.5(GJA1):c.412G>A (p.Gly138Ser) rs1554201018
NM_000165.5(GJA1):c.413G>A (p.Gly138Asp) rs1554201019
NM_000165.5(GJA1):c.50A>C (p.Tyr17Ser) rs104893961
NM_000165.5(GJA1):c.52T>C (p.Ser18Pro) rs104893962
NM_000165.5(GJA1):c.53C>A (p.Ser18Ter) rs1773898086
NM_000165.5(GJA1):c.581A>C (p.His194Pro) rs104893966
NM_000165.5(GJA1):c.602C>T (p.Ser201Phe)
NM_000165.5(GJA1):c.605G>A (p.Arg202His) rs750294638
NM_000165.5(GJA1):c.617A>G (p.Lys206Arg) rs397518464
NM_000165.5(GJA1):c.61G>A (p.Gly21Arg) rs104893963
NM_000165.5(GJA1):c.646G>T (p.Val216Leu) rs1554201043
NM_000165.5(GJA1):c.64G>A (p.Gly22Arg) rs1773898234
NM_000165.5(GJA1):c.65G>A (p.Gly22Glu) rs104893964
NM_000165.5(GJA1):c.681A>T (p.Glu227Asp) rs875989815
NM_000165.5(GJA1):c.689_690del (p.Tyr230fs) rs1582558514
NM_000165.5(GJA1):c.780_781del (p.Cys260fs) rs1582558666
NM_000165.5(GJA1):c.93T>G (p.Ile31Met) rs1773898804
NM_000165.5(GJA1):c.97C>T (p.Arg33Ter) rs121912970
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys) rs118204105
NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs) rs1555206402
NM_000190.4(HMBS):c.160+5G>C rs1592213590
NM_000190.4(HMBS):c.160_160+1del
NM_000190.4(HMBS):c.174del (p.Thr59fs) rs1565754285
NM_000190.4(HMBS):c.181dup (p.Asp61fs) rs1565754296
NM_000190.4(HMBS):c.210+1G>C rs2134859316
NM_000190.4(HMBS):c.211-1G>A rs1565754452
NM_000190.4(HMBS):c.211-1G>T rs1565754452
NM_000190.4(HMBS):c.219_220del (p.Ser75fs) rs1592214498
NM_000190.4(HMBS):c.266+1G>C rs1565754565
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) rs118204107
NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer) rs1057518886
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) rs118204120
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln) rs118204098
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter) rs118204097
NM_000190.4(HMBS):c.499-1G>A rs1565756481
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu) rs118204095
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln) rs118204096
NM_000190.4(HMBS):c.518G>C (p.Arg173Pro)
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg) rs118204108
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter) rs118204100
NM_000190.4(HMBS):c.612G>T (p.Gln204His) rs1592217847
NM_000190.4(HMBS):c.613-1G>A rs771206317
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp) rs118204116
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del) rs1555206128
NM_000190.4(HMBS):c.730_731del (p.Leu244fs) rs1565757839
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg) rs118204099
NM_000190.4(HMBS):c.734_741dup (p.Ile248fs) rs1565757857
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) rs118204111
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys) rs118204112
NM_000190.4(HMBS):c.755C>T (p.Ala252Val) rs118204114
NM_000190.4(HMBS):c.760del (p.Phe253_Leu254insTer)
NM_000190.4(HMBS):c.766C>A (p.His256Asn) rs118204115
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) rs998842815
NM_000190.4(HMBS):c.771+1G>C rs1565758008
NM_000190.4(HMBS):c.771G>A (p.Leu257=) rs1555206170
NM_000190.4(HMBS):c.772-2A>G
NM_000190.4(HMBS):c.77G>A (p.Arg26His) rs118204103
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000190.4(HMBS):c.847_848del (p.Trp283fs) rs1592220835
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) rs118204117
NM_000190.4(HMBS):c.900del (p.His300fs) rs1565758825
NM_000190.4(HMBS):c.912+1G>C
NM_000190.4(HMBS):c.913-1G>A rs1946325053
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter) rs2134885779
NM_000190.4(HMBS):c.9_33+11del
NM_000195.5(HPS1):c.1090dup (p.Leu364fs) rs2136156603
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) rs786205464
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1507C>T (p.Gln503Ter) rs748888649
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) rs769446880
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) rs1591031929
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter) rs1591120765
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) rs1239621485
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) rs281865090
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs) rs1846922474
NM_000195.5(HPS1):c.533del (p.Gln178fs)
NM_000195.5(HPS1):c.610G>T (p.Glu204Ter) rs747607498
NM_000195.5(HPS1):c.780dup (p.Arg261fs) rs2136197089
NM_000195.5(HPS1):c.928C>T (p.Gln310Ter) rs748939090
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.962dup (p.Thr322fs) rs281865081
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) rs750909242
NM_000210.4(ITGA6):c.1286C>A (p.Ser429Ter) rs1686177024
NM_000210.4(ITGA6):c.140C>T (p.Ser47Leu) rs1377038208
NM_000210.4(ITGA6):c.2506-1G>C rs2149078144
NM_000210.4(ITGA6):c.3167del (p.Lys1056fs) rs1559159868
NM_000210.4(ITGA6):c.387G>T (p.Val129=) rs2149039042
NM_000210.4(ITGA6):c.388-5T>G rs2149041171
NM_000210.4(ITGA6):c.809del (p.Ser270fs) rs2149047535
NM_000210.4(ITGA6):c.915del (p.His305fs) rs2149047683
NM_000213.5(ITGB4):c.112T>C (p.Cys38Arg) rs121912465
NM_000213.5(ITGB4):c.1370G>A (p.Cys457Tyr) rs2060870463
NM_000213.5(ITGB4):c.1462C>T (p.Gln488Ter)
NM_000213.5(ITGB4):c.1660C>T (p.Arg554Ter) rs121912462
NM_000213.5(ITGB4):c.2012G>C (p.Cys671Ser) rs2061001234
NM_000213.5(ITGB4):c.2465T>C (p.Leu822Ser) rs902551587
NM_000213.5(ITGB4):c.2633+1G>A rs1348061804
NM_000213.5(ITGB4):c.2783-2A>G rs758551913
NM_000213.5(ITGB4):c.2792G>A (p.Gly931Asp) rs121912466
NM_000213.5(ITGB4):c.3279_3793+180del
NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs) rs2061333185
NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His) rs121912468
NM_000213.5(ITGB4):c.3707_3725del (p.Thr1236fs) rs2061355653
NM_000213.5(ITGB4):c.3793+1G>C rs147222357
NM_000213.5(ITGB4):c.3793+2dup rs886041205
NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp) rs121912467
NM_000213.5(ITGB4):c.3842G>C (p.Arg1281Pro)
NM_000213.5(ITGB4):c.4505_4508dup (p.Thr1504fs)
NM_000213.5(ITGB4):c.4574_4575del (p.Ala1525fs)
NM_000213.5(ITGB4):c.4620del (p.Thr1542fs) rs794726676
NM_000213.5(ITGB4):c.4643G>A (p.Trp1548Ter) rs121912464
NM_000213.5(ITGB4):c.467T>C (p.Leu156Pro) rs121912461
NM_000213.5(ITGB4):c.472_566+184del rs2060771091
NM_000213.5(ITGB4):c.4734dup (p.Asn1579fs) rs2143532950
NM_000213.5(ITGB4):c.600dup (p.Phe201fs) rs752657203
NM_000213.5(ITGB4):c.701G>T (p.Gly234Val) rs1038415538
NM_000213.5(ITGB4):c.847C>T (p.Arg283Cys) rs1422797135
NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp) rs761952496
NM_000222.3(KIT):c.1598C>A (p.Ala533Asp) rs753212327
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000222.3(KIT):c.1681dup (p.Glu561fs) rs794726673
NM_000222.3(KIT):c.1747G>A (p.Glu583Lys) rs121913680
NM_000222.3(KIT):c.1751T>G (p.Phe584Cys) rs28933371
NM_000222.3(KIT):c.1752T>G (p.Phe584Leu) rs794726671
NM_000222.3(KIT):c.1879+1G>A rs794726675
NM_000222.3(KIT):c.1925_1926del (p.Lys642fs) rs794726672
NM_000222.3(KIT):c.1990G>A (p.Gly664Arg) rs121913679
NM_000222.3(KIT):c.237del (p.Asn80fs)
NM_000222.3(KIT):c.2415_2422del (p.Thr806fs) rs2109801456
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2459A>G (p.Asp820Gly) rs121913682
NM_000222.3(KIT):c.2465A>T (p.Asn822Ile) rs993022333
NM_000222.3(KIT):c.2539A>C (p.Thr847Pro) rs121913687
NM_000222.3(KIT):c.253del (p.Glu85fs) rs794726674
NM_000222.3(KIT):c.2700T>A (p.Tyr900Ter)
NM_000226.4(KRT9):c.469A>G (p.Met157Val) rs58597584
NM_000226.4(KRT9):c.470T>C (p.Met157Thr) rs59510579
NM_000226.4(KRT9):c.478C>G (p.Leu160Val) rs28940896
NM_000226.4(KRT9):c.478C>T (p.Leu160Phe) rs28940896
NM_000226.4(KRT9):c.481A>T (p.Asn161Tyr) rs59296273
NM_000226.4(KRT9):c.482A>G (p.Asn161Ser) rs56707768
NM_000226.4(KRT9):c.482A>T (p.Asn161Ile) rs56707768
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys) rs57536312
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp) rs59616921
NM_000226.4(KRT9):c.503T>C (p.Leu168Ser) rs61157095
NM_000226.4(KRT9):c.511G>A (p.Val171Met) rs57019720
NM_000226.4(KRT9):c.515A>C (p.Gln172Pro) rs59878153
NM_000227.6(LAMA3):c.151dup (p.Val51fs) rs80356678
NM_000227.6(LAMA3):c.169C>T (p.Gln57Ter)
NM_000227.6(LAMA3):c.47G>A (p.Trp16Ter)
NM_000227.6(LAMA3):c.50T>A (p.Ile17Asn) rs1052659025
NM_000228.2(LAMB3):c.957_958ins77 (p.?)
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter) rs774174881
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.1133-22G>A rs767847211
NM_000228.3(LAMB3):c.1336G>T (p.Glu446Ter) rs749069550
NM_000228.3(LAMB3):c.1344_1345del (p.Ser448fs) rs1553277267
NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs) rs786205095
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) rs769151482
NM_000228.3(LAMB3):c.1628dup (p.Cys546fs)
NM_000228.3(LAMB3):c.1634del (p.Gly545fs) rs1666434871
NM_000228.3(LAMB3):c.1702C>T (p.Gln568Ter) rs1571810782
NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter) rs121912484
NM_000228.3(LAMB3):c.1939G>T (p.Glu647Ter) rs1666408900
NM_000228.3(LAMB3):c.2047del (p.Glu683fs) rs1666320034
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter) rs1064793896
NM_000228.3(LAMB3):c.2806C>T (p.Gln936Ter) rs121912485
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.3119G>A (p.Trp1040Ter) rs1057516759
NM_000228.3(LAMB3):c.3163del (p.Ala1055fs)
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_000228.3(LAMB3):c.3228+1G>A rs778026407
NM_000228.3(LAMB3):c.323T>C (p.Leu108Pro) rs1464871076
NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter) rs2102403618
NM_000228.3(LAMB3):c.429G>A (p.Trp143Ter) rs369555024
NM_000228.3(LAMB3):c.496C>T (p.Gln166Ter) rs121912483
NM_000228.3(LAMB3):c.565-3T>C rs587776813
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000228.3(LAMB3):c.619A>C (p.Lys207Gln) rs121912487
NM_000228.3(LAMB3):c.629-1G>A rs587776814
NM_000228.3(LAMB3):c.76dup (p.Cys26fs) rs1553281335
NM_000228.3(LAMB3):c.823-1G>A rs778372285
NM_000228.3(LAMB3):c.904del (p.Trp302fs) rs786205094
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.726C>G (p.Ser242Arg) rs104895127
NM_000243.3(MEFV):c.730G>A (p.Glu244Lys) rs1959081392
NM_000268.4(NF2):c.125_126insG (p.Gly43fs) rs587776564
NM_000268.4(NF2):c.205_211del (p.Lys69fs) rs587776565
NM_000268.4(NF2):c.363+1G>A rs1601583839
NM_000268.4(NF2):c.448-1G>A rs2146966216
NM_000275.2(OCA2):c.647-?_807+?del
NM_000275.2(OCA2):c.647-?_890+?del
NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs) rs1595774445
NM_000275.3(OCA2):c.121_128del (p.Gly41fs) rs1555392037
NM_000275.3(OCA2):c.1240-1G>T
NM_000275.3(OCA2):c.1248dup (p.Leu417fs)
NM_000275.3(OCA2):c.131del (p.Gly44fs) rs780625433
NM_000275.3(OCA2):c.1365-1G>A rs2140965742
NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp)
NM_000275.3(OCA2):c.1637-2A>G rs1595717218
NM_000275.3(OCA2):c.171del (p.Gln58fs) rs1555391997
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
NM_000275.3(OCA2):c.1832T>C (p.Leu611Pro)
NM_000275.3(OCA2):c.1842+2T>C rs1226502822
NM_000275.3(OCA2):c.1951+1215G>T
NM_000275.3(OCA2):c.1951+1G>A
NM_000275.3(OCA2):c.1951+1G>C rs752727398
NM_000275.3(OCA2):c.1960del (p.Ala654fs) rs387906241
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs) rs1595660890
NM_000275.3(OCA2):c.2055del (p.Phe685fs) rs772595552
NM_000275.3(OCA2):c.2055dup (p.Ala686fs)
NM_000275.3(OCA2):c.2080-1G>A rs1555422232
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs) rs771620099
NM_000275.3(OCA2):c.2195C>G (p.Ser732Ter)
NM_000275.3(OCA2):c.2244+1G>A rs868098120
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.646+1G>T rs1046172334
NM_000275.3(OCA2):c.759del (p.Glu253fs)
NM_000275.3(OCA2):c.808-3C>G
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)
NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer) rs747395624
NM_000283.4(PDE6B):c.2395C>T (p.Arg799Ter) rs970990957
NM_000301.5(PLG):c.2183T>A (p.Val728Glu) rs1582955358
NM_000314.6(PTEN):c.80-?_492+?del
NM_000314.6(PTEN):c.802delG (p.Asp268Thrfs) rs587776672
NM_000314.7(PTEN):c.-861G>T rs587776675
NM_000314.8(PTEN):c.-312_18del (p.Met1_Lys6del)
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1003_1019del (p.Arg335fs)
NM_000314.8(PTEN):c.1003del (p.Arg335fs) rs1860633095
NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln) rs1085308040
NM_000314.8(PTEN):c.1006dup (p.Tyr336fs) rs1554825631
NM_000314.8(PTEN):c.1007dup (p.Tyr336Ter) rs2132283619
NM_000314.8(PTEN):c.1008C>A (p.Tyr336Ter)
NM_000314.8(PTEN):c.1008C>G (p.Tyr336Ter) rs786201816
NM_000314.8(PTEN):c.1010_1014del (p.Phe337fs)
NM_000314.8(PTEN):c.1012del (p.Ser338fs) rs1564568660
NM_000314.8(PTEN):c.1012dup (p.Ser338fs)
NM_000314.8(PTEN):c.1013del (p.Ser338fs) rs1860634226
NM_000314.8(PTEN):c.1016_1017del (p.Pro339fs)
NM_000314.8(PTEN):c.1016del (p.Pro339fs) rs1554825643
NM_000314.8(PTEN):c.1019del (p.Asn340fs)
NM_000314.8(PTEN):c.1024A>T (p.Lys342Ter)
NM_000314.8(PTEN):c.1026+1G>A rs786201041
NM_000314.8(PTEN):c.1026+1G>C rs786201041
NM_000314.8(PTEN):c.1026+1G>T rs786201041
NM_000314.8(PTEN):c.1026+2T>G rs1114167624
NM_000314.8(PTEN):c.1027-1G>A rs1057517809
NM_000314.8(PTEN):c.1027-2A>C rs1085308041
NM_000314.8(PTEN):c.1027-2A>G rs1085308041
NM_000314.8(PTEN):c.1032_1033insAC (p.Leu345fs) rs1860732201
NM_000314.8(PTEN):c.1034T>C (p.Leu345Pro) rs1554826024
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.104T>G (p.Met35Arg) rs121909225
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.106G>T (p.Gly36Ter) rs786204854
NM_000314.8(PTEN):c.106_109del (p.Gly36fs) rs2132187310
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.107del (p.Gly36fs)
NM_000314.8(PTEN):c.1118_1122dup (p.Asp375fs)
NM_000314.8(PTEN):c.111del (p.Pro38fs)
NM_000314.8(PTEN):c.111dup (p.Pro38fs) rs1114167636
NM_000314.8(PTEN):c.113C>T (p.Pro38Leu) rs1064796886
NM_000314.8(PTEN):c.118G>T (p.Glu40Ter) rs869312778
NM_000314.8(PTEN):c.1212A>T (p.Ter404Cys) rs876660879
NM_000314.8(PTEN):c.121A>T (p.Arg41Ter)
NM_000314.8(PTEN):c.122_135del (p.Arg41fs)
NM_000314.8(PTEN):c.127G>T (p.Glu43Ter) rs1554893808
NM_000314.8(PTEN):c.131G>A (p.Gly44Asp) rs1085308042
NM_000314.8(PTEN):c.131dup (p.Val45fs) rs1564814541
NM_000314.8(PTEN):c.132dup (p.Val45fs) rs878853933
NM_000314.8(PTEN):c.138C>A (p.Tyr46Ter) rs1114167672
NM_000314.8(PTEN):c.139A>G (p.Arg47Gly) rs786204855
NM_000314.8(PTEN):c.13del (p.Ile5fs)
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.141_142inv (p.Arg47_Asn48delinsSerHis)
NM_000314.8(PTEN):c.141_160dup (p.Val54delinsGlyThrIleLeuMetMetTer) rs2132187641
NM_000314.8(PTEN):c.143A>G (p.Asn48Ser) rs1859098783
NM_000314.8(PTEN):c.143_146del (p.Asn48fs)
NM_000314.8(PTEN):c.143del (p.Asn48fs)
NM_000314.8(PTEN):c.144C>A (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.144C>G (p.Asn48Lys) rs762518389
NM_000314.8(PTEN):c.148_149dup (p.Asp51fs)
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.8(PTEN):c.150del (p.Ile50fs) rs1859099242
NM_000314.8(PTEN):c.157del (p.Asp52_Val53insTer)
NM_000314.8(PTEN):c.157delinsTA (p.Val53fs)
NM_000314.8(PTEN):c.158_162dup (p.Arg55Ter) rs2132187838
NM_000314.8(PTEN):c.164+1G>A rs1554893835
NM_000314.8(PTEN):c.164+1G>C rs1554893835
NM_000314.8(PTEN):c.164+1G>T rs1554893835
NM_000314.8(PTEN):c.164+1_164+5del rs1859100502
NM_000314.8(PTEN):c.164+1_164+9delinsTTAC
NM_000314.8(PTEN):c.164+2T>A
NM_000314.8(PTEN):c.164+2T>G rs1337554479
NM_000314.8(PTEN):c.165-1G>A rs786203847
NM_000314.8(PTEN):c.165-1G>C rs786203847
NM_000314.8(PTEN):c.165-2A>C
NM_000314.8(PTEN):c.165-2A>G rs1085308043
NM_000314.8(PTEN):c.16A>G (p.Lys6Glu) rs1589596143
NM_000314.8(PTEN):c.170T>A (p.Leu57Ter) rs786202398
NM_000314.8(PTEN):c.170_185del (p.Phe56_Leu57insTer)
NM_000314.8(PTEN):c.170del (p.Leu57fs)
NM_000314.8(PTEN):c.170dup (p.Leu57fs)
NM_000314.8(PTEN):c.176C>A (p.Ser59Ter) rs1060500116
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter) rs1060500116
NM_000314.8(PTEN):c.176del (p.Asp58_Ser59insTer) rs1859802811
NM_000314.8(PTEN):c.17_18del (p.Lys6fs) rs121913290
NM_000314.8(PTEN):c.17_20dup (p.Ile8fs) rs2132145483
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.184A>T (p.Lys62Ter) rs1564826779
NM_000314.8(PTEN):c.188del (p.Asn63fs) rs1554897267
NM_000314.8(PTEN):c.188dup (p.Asn63fs)
NM_000314.8(PTEN):c.194_195insT (p.Lys66fs)
NM_000314.8(PTEN):c.194del (p.Tyr65fs) rs1859804141
NM_000314.8(PTEN):c.195C>A (p.Tyr65Ter) rs878853936
NM_000314.8(PTEN):c.195C>G (p.Tyr65Ter) rs878853936
NM_000314.8(PTEN):c.197dup (p.Ile67fs)
NM_000314.8(PTEN):c.19G>T (p.Glu7Ter) rs1554890335
NM_000314.8(PTEN):c.1A>G (p.Met1Val) rs1554890324
NM_000314.8(PTEN):c.200dup (p.Tyr68fs) rs1060500113
NM_000314.8(PTEN):c.201dup (p.Tyr68fs) rs2132232362
NM_000314.8(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys) rs876660634
NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter) rs773176120
NM_000314.8(PTEN):c.204C>G (p.Tyr68Ter) rs773176120
NM_000314.8(PTEN):c.209+1G>A rs1554897280
NM_000314.8(PTEN):c.209+1G>C
NM_000314.8(PTEN):c.209+1G>T rs1554897280
NM_000314.8(PTEN):c.209+1_209+2del rs1564826836
NM_000314.8(PTEN):c.209+2T>A rs878853937
NM_000314.8(PTEN):c.209+2T>C rs878853937
NM_000314.8(PTEN):c.209+4A>G rs2132232446
NM_000314.8(PTEN):c.209+4_209+7del rs398123318
NM_000314.8(PTEN):c.209+5G>A rs1114167650
NM_000314.8(PTEN):c.209+6T>A
NM_000314.8(PTEN):c.209+6T>G rs1554897282
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.8(PTEN):c.210-1G>A rs1114167621
NM_000314.8(PTEN):c.210-2A>C rs1564828914
NM_000314.8(PTEN):c.210-2A>G rs1564828914
NM_000314.8(PTEN):c.210-2A>T
NM_000314.8(PTEN):c.210-2_211del rs1554897854
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.211delT (p.Cys71fs)
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000314.8(PTEN):c.216_219dup (p.Arg74Ter)
NM_000314.8(PTEN):c.21_22del (p.Glu7fs) rs786204881
NM_000314.8(PTEN):c.223_227dup (p.Asp77fs)
NM_000314.8(PTEN):c.224_225del (p.His75fs) rs1859920352
NM_000314.8(PTEN):c.224_233del (p.His75fs) rs2132238787
NM_000314.8(PTEN):c.225_226insG (p.Tyr76fs)
NM_000314.8(PTEN):c.227_228del (p.His75_Tyr76insTer)
NM_000314.8(PTEN):c.228T>A (p.Tyr76Ter)
NM_000314.8(PTEN):c.228T>G (p.Tyr76Ter) rs1554897866
NM_000314.8(PTEN):c.228dup (p.Asp77Ter) rs1589644721
NM_000314.8(PTEN):c.232_233del (p.Thr78fs)
NM_000314.8(PTEN):c.232del (p.Thr78fs)
NM_000314.8(PTEN):c.234del (p.Ala79fs)
NM_000314.8(PTEN):c.235_236del (p.Ala79fs) rs1859921286
NM_000314.8(PTEN):c.240del (p.Lys80fs)
NM_000314.8(PTEN):c.243_245delinsAT (p.Phe81fs)
NM_000314.8(PTEN):c.249C>A (p.Cys83Ter) rs1554897879
NM_000314.8(PTEN):c.250A>T (p.Arg84Ter) rs1554897880
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.253+1G>C rs587776667
NM_000314.8(PTEN):c.253+1G>T rs587776667
NM_000314.8(PTEN):c.253+2T>A rs1224040268
NM_000314.8(PTEN):c.253+5G>A rs1554897889
NM_000314.8(PTEN):c.253+5G>T rs1554897889
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter) rs1554898053
NM_000314.8(PTEN):c.260_261dup (p.Tyr88fs) rs1114167637
NM_000314.8(PTEN):c.263_264del (p.Tyr88fs) rs1859964600
NM_000314.8(PTEN):c.264T>A (p.Tyr88Ter) rs1554898056
NM_000314.8(PTEN):c.264T>G (p.Tyr88Ter)
NM_000314.8(PTEN):c.265_266del (p.Pro89fs)
NM_000314.8(PTEN):c.270del (p.Phe90fs) rs1114167678
NM_000314.8(PTEN):c.271G>T (p.Glu91Ter)
NM_000314.8(PTEN):c.275A>G (p.Asp92Gly) rs1114167623
NM_000314.8(PTEN):c.277C>T (p.His93Tyr) rs786204927
NM_000314.8(PTEN):c.277_292del (p.Asp92_His93insTer) rs1554898071
NM_000314.8(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.8(PTEN):c.281del (p.Asn94fs)
NM_000314.8(PTEN):c.281dup (p.Asn94fs)
NM_000314.8(PTEN):c.284C>T (p.Pro95Leu) rs786204856
NM_000314.8(PTEN):c.287C>A (p.Pro96Gln) rs1554898074
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg) rs1554898074
NM_000314.8(PTEN):c.287dup (p.Gln97fs)
NM_000314.8(PTEN):c.29del (p.Ser10fs)
NM_000314.8(PTEN):c.2T>C (p.Met1Thr) rs1858394001
NM_000314.8(PTEN):c.300dup (p.Ile101fs) rs1554898083
NM_000314.8(PTEN):c.301_310del (p.Ile101fs)
NM_000314.8(PTEN):c.301del (p.Ile101fs) rs2132242363
NM_000314.8(PTEN):c.301dup (p.Ile101fs) rs1554898084
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.302_304delinsCC (p.Ile101fs)
NM_000314.8(PTEN):c.304A>T (p.Lys102Ter) rs786202944
NM_000314.8(PTEN):c.304_307dup (p.Pro103fs) rs2132242380
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs) rs1554898085
NM_000314.8(PTEN):c.306del (p.Lys102fs) rs587782641
NM_000314.8(PTEN):c.312_316del (p.Phe104fs)
NM_000314.8(PTEN):c.313del (p.Cys105fs) rs1859969176
NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr) rs587782343
NM_000314.8(PTEN):c.314dup (p.Cys105fs)
NM_000314.8(PTEN):c.315_316dup (p.Glu106fs) rs1554898090
NM_000314.8(PTEN):c.315dup (p.Glu106Ter) rs1554898091
NM_000314.8(PTEN):c.316G>T (p.Glu106Ter) rs1085308039
NM_000314.8(PTEN):c.319G>T (p.Asp107Tyr) rs57374291
NM_000314.8(PTEN):c.319del (p.Asp107fs)
NM_000314.8(PTEN):c.31A>T (p.Arg11Ter)
NM_000314.8(PTEN):c.320A>T (p.Asp107Val) rs786204858
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.8(PTEN):c.324del (p.Asp109fs)
NM_000314.8(PTEN):c.325_328delinsTT (p.Asp109fs)
NM_000314.8(PTEN):c.328C>T (p.Gln110Ter) rs1114167629
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)
NM_000314.8(PTEN):c.332_333insT (p.Trp111fs) rs1589646225
NM_000314.8(PTEN):c.333G>A (p.Trp111Ter) rs1554898097
NM_000314.8(PTEN):c.335T>C (p.Leu112Pro) rs121909230
NM_000314.8(PTEN):c.335T>G (p.Leu112Arg)
NM_000314.8(PTEN):c.338G>T (p.Ser113Ile) rs587781254
NM_000314.8(PTEN):c.338_391del (p.Ser113_Arg130del)
NM_000314.8(PTEN):c.339_343del (p.Ser113fs)
NM_000314.8(PTEN):c.340G>T (p.Glu114Ter)
NM_000314.8(PTEN):c.346_358dup (p.Ala120fs) rs1064792910
NM_000314.8(PTEN):c.347_351del (p.Asp116fs) rs587776666
NM_000314.8(PTEN):c.348_349dup (p.Asn117fs)
NM_000314.8(PTEN):c.350_353del (p.Asn117fs) rs1564830070
NM_000314.8(PTEN):c.352_353delinsG (p.His118fs)
NM_000314.8(PTEN):c.357_359delinsAT (p.Val119_Ala120insTer)
NM_000314.8(PTEN):c.358dup (p.Ala120fs) rs1859973156
NM_000314.8(PTEN):c.359dup (p.Ala121fs) rs1589646309
NM_000314.8(PTEN):c.35A>C (p.Asn12Thr) rs1085308044
NM_000314.8(PTEN):c.367C>G (p.His123Asp) rs786204931
NM_000314.8(PTEN):c.368A>G (p.His123Arg) rs121909222
NM_000314.8(PTEN):c.369C>G (p.His123Gln) rs1085308045
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg) rs121909223
NM_000314.8(PTEN):c.370T>G (p.Cys124Gly) rs121909223
NM_000314.8(PTEN):c.370_445dup (p.Gln149delinsLeuTer)
NM_000314.8(PTEN):c.370del (p.Cys124fs) rs1554898123
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)
NM_000314.8(PTEN):c.372_394del (p.Cys124fs)
NM_000314.8(PTEN):c.376G>C (p.Ala126Pro) rs1554898129
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg) rs587781255
NM_000314.8(PTEN):c.379G>T (p.Gly127Ter) rs587781255
NM_000314.8(PTEN):c.37A>T (p.Lys13Ter) rs1554890348
NM_000314.8(PTEN):c.380delinsAA (p.Gly127fs)
NM_000314.8(PTEN):c.383A>G (p.Lys128Arg) rs1859975512
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.385G>C (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu) rs121909218
NM_000314.8(PTEN):c.386G>T (p.Gly129Val) rs121909218
NM_000314.8(PTEN):c.386del (p.Gly129fs) rs1554898139
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.8(PTEN):c.389del (p.Arg130fs) rs121913292
NM_000314.8(PTEN):c.38_51del (p.Lys13fs) rs2132145679
NM_000314.8(PTEN):c.392C>T (p.Thr131Ile) rs397514560
NM_000314.8(PTEN):c.394G>A (p.Gly132Ser) rs1859977029
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.395G>T (p.Gly132Val) rs121909241
NM_000314.8(PTEN):c.397G>A (p.Val133Ile) rs1859977307
NM_000314.8(PTEN):c.397del (p.Gly132_Val133insTer)
NM_000314.8(PTEN):c.397delinsTA (p.Val133fs) rs1859977388
NM_000314.8(PTEN):c.399_403del (p.Ile135fs) rs1554898150
NM_000314.8(PTEN):c.39_40dup (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.39_41del (p.Arg15del) rs1114167625
NM_000314.8(PTEN):c.39_51del (p.Arg15fs) rs2132145655
NM_000314.8(PTEN):c.3G>A (p.Met1Ile) rs2132145343
NM_000314.8(PTEN):c.400del (p.Val133_Met134insTer)
NM_000314.8(PTEN):c.401T>C (p.Met134Thr) rs1085308046
NM_000314.8(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.8(PTEN):c.404dup (p.Cys136fs)
NM_000314.8(PTEN):c.405_406del (p.Ile135fs)
NM_000314.8(PTEN):c.405del (p.Cys136fs)
NM_000314.8(PTEN):c.405dup (p.Cys136fs) rs398123323
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) rs786204859
NM_000314.8(PTEN):c.40A>G (p.Arg14Gly) rs1085308047
NM_000314.8(PTEN):c.40del (p.Arg14fs)
NM_000314.8(PTEN):c.40dup (p.Arg14fs) rs587776671
NM_000314.8(PTEN):c.414T>G (p.Tyr138Ter) rs1554898161
NM_000314.8(PTEN):c.416T>G (p.Leu139Ter) rs1085308048
NM_000314.8(PTEN):c.416_419del (p.Leu139fs)
NM_000314.8(PTEN):c.416del (p.Leu139fs) rs1554898163
NM_000314.8(PTEN):c.419T>A (p.Leu140Ter)
NM_000314.8(PTEN):c.420dup (p.His141fs) rs1085308050
NM_000314.8(PTEN):c.421_422del (p.His141fs)
NM_000314.8(PTEN):c.422A>C (p.His141Pro) rs863224666
NM_000314.8(PTEN):c.424del (p.Arg142fs) rs869312779
NM_000314.8(PTEN):c.428del (p.Gly143fs) rs2132243612
NM_000314.8(PTEN):c.428dup (p.Lys144fs) rs2132243612
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter) rs1057520622
NM_000314.8(PTEN):c.432del (p.Lys144fs) rs1114167657
NM_000314.8(PTEN):c.436_437del (p.Leu146fs)
NM_000314.8(PTEN):c.437T>G (p.Leu146Ter) rs786204933
NM_000314.8(PTEN):c.437_438insTTTTTTTTTTTTTTTNNNNNNNNNNGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACATCGGGGCAAATTTTT (p.Leu146delinsPhePhePhePhePheXaaXaaXaaXaaGlyTrpSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer) rs2132243547
NM_000314.8(PTEN):c.437_438insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATCGGGGCAAATTTTT (p.Leu146delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000314.8(PTEN):c.43A>T (p.Arg15Ter) rs2132145750
NM_000314.8(PTEN):c.440del (p.Lys147fs) rs2132243722
NM_000314.8(PTEN):c.442dup (p.Ala148fs)
NM_000314.8(PTEN):c.444dup (p.Gln149fs)
NM_000314.8(PTEN):c.445C>T (p.Gln149Ter) rs1060500122
NM_000314.8(PTEN):c.447del (p.Glu150fs) rs1554898188
NM_000314.8(PTEN):c.448G>T (p.Glu150Ter) rs786204934
NM_000314.8(PTEN):c.448_461del (p.Glu150fs)
NM_000314.8(PTEN):c.44G>A (p.Arg15Lys) rs398123324
NM_000314.8(PTEN):c.44G>C (p.Arg15Thr) rs398123324
NM_000314.8(PTEN):c.44_45delinsT (p.Arg15fs)
NM_000314.8(PTEN):c.44_45dup (p.Tyr16fs) rs1057524874
NM_000314.8(PTEN):c.44_56del (p.Arg15fs)
NM_000314.8(PTEN):c.451_484del (p.Ala151fs)
NM_000314.8(PTEN):c.454_469del (p.Leu152fs)
NM_000314.8(PTEN):c.458dup (p.Asp153fs)
NM_000314.8(PTEN):c.45A>C (p.Arg15Ser) rs1064794096
NM_000314.8(PTEN):c.463del (p.Tyr155fs) rs2132243942
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.465T>A (p.Tyr155Ter) rs1554898206
NM_000314.8(PTEN):c.465T>G (p.Tyr155Ter) rs1554898206
NM_000314.8(PTEN):c.468_469dup (p.Glu157fs)
NM_000314.8(PTEN):c.469G>T (p.Glu157Ter) rs121909220
NM_000314.8(PTEN):c.469del (p.Glu157fs) rs1554898210
NM_000314.8(PTEN):c.469dup (p.Glu157fs) rs1554898210
NM_000314.8(PTEN):c.46dup (p.Tyr16fs) rs786204883
NM_000314.8(PTEN):c.470A>G (p.Glu157Gly) rs1085308051
NM_000314.8(PTEN):c.472_473del (p.Val158fs)
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) rs786202688
NM_000314.8(PTEN):c.47dup (p.Tyr16Ter) rs876661009
NM_000314.8(PTEN):c.481del (p.Arg161fs)
NM_000314.8(PTEN):c.483_492del (p.Asp162fs)
NM_000314.8(PTEN):c.485_487delinsCC (p.Asp162fs) rs1554898231
NM_000314.8(PTEN):c.486_487del (p.Asp162fs) rs1554898231
NM_000314.8(PTEN):c.487A>T (p.Lys163Ter) rs1554898235
NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.490A>T (p.Lys164Ter)
NM_000314.8(PTEN):c.490_491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.490_491dup (p.Gly165fs)
NM_000314.8(PTEN):c.491del (p.Lys164fs) rs786204900
NM_000314.8(PTEN):c.491dup (p.Val166fs)
NM_000314.8(PTEN):c.492+1G>C rs1554898242
NM_000314.8(PTEN):c.492+1G>T rs1554898242
NM_000314.8(PTEN):c.492+1del rs1564830522
NM_000314.8(PTEN):c.492+2T>G rs1554898244
NM_000314.8(PTEN):c.493-1G>A rs786204862
NM_000314.8(PTEN):c.493-2A>C rs587781784
NM_000314.8(PTEN):c.493-2A>G rs587781784
NM_000314.8(PTEN):c.493-2_493-1delinsCC rs2132268858
NM_000314.8(PTEN):c.493-5_528del
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.493G>C (p.Gly165Arg) rs587782603
NM_000314.8(PTEN):c.493G>T (p.Gly165Ter) rs587782603
NM_000314.8(PTEN):c.494G>A (p.Gly165Glu) rs786204863
NM_000314.8(PTEN):c.499A>G (p.Thr167Ala) rs1210737543
NM_000314.8(PTEN):c.499del (p.Thr167fs)
NM_000314.8(PTEN):c.499dup (p.Thr167fs)
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.8(PTEN):c.49_61dup (p.Phe21fs) rs2132145816
NM_000314.8(PTEN):c.502_503del (p.Ile168fs) rs2132268956
NM_000314.8(PTEN):c.503_539del (p.Ile168fs)
NM_000314.8(PTEN):c.504_522del (p.Ile168fs)
NM_000314.8(PTEN):c.507del (p.Ser170fs) rs587776673
NM_000314.8(PTEN):c.508A>C (p.Ser170Arg) rs1554900534
NM_000314.8(PTEN):c.509G>T (p.Ser170Ile) rs876660507
NM_000314.8(PTEN):c.50_51del (p.Gln17fs) rs587781912
NM_000314.8(PTEN):c.510T>A (p.Ser170Arg) rs121909221
NM_000314.8(PTEN):c.510T>G (p.Ser170Arg) rs121909221
NM_000314.8(PTEN):c.510_513del (p.Ser170fs)
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter) rs786204864
NM_000314.8(PTEN):c.511dup (p.Gln171fs) rs2132269032
NM_000314.8(PTEN):c.512del (p.Gln171fs)
NM_000314.8(PTEN):c.512dup (p.Arg172fs) rs1114167632
NM_000314.8(PTEN):c.514_515del (p.Arg172fs) rs1564837778
NM_000314.8(PTEN):c.517_523del (p.Arg173fs)
NM_000314.8(PTEN):c.518_519dup (p.Tyr174fs)
NM_000314.8(PTEN):c.51dup (p.Glu18fs)
NM_000314.8(PTEN):c.520dup (p.Tyr174fs) rs1085308052
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.522T>G (p.Tyr174Ter) rs786201867
NM_000314.8(PTEN):c.525del (p.Tyr176fs) rs1554900566
NM_000314.8(PTEN):c.528_529dup (p.Tyr177fs)
NM_000314.8(PTEN):c.528_535del (p.Tyr176_Ser179delinsTer)
NM_000314.8(PTEN):c.529dup (p.Tyr177fs)
NM_000314.8(PTEN):c.534_535delinsAT (p.Tyr178_Ser179delinsTer) rs397515374
NM_000314.8(PTEN):c.536_539dup (p.Tyr180Ter) rs2132269250
NM_000314.8(PTEN):c.537_538del (p.Ser179fs)
NM_000314.8(PTEN):c.537_540delinsTTAAAGAATCATCTGGATTAGGGTTAAAACCCAGATTAGGGTTAAATCATCTGGATTAGGGTTAAT (p.Tyr180Ter)
NM_000314.8(PTEN):c.53del (p.Glu18fs) rs878853940
NM_000314.8(PTEN):c.540C>A (p.Tyr180Ter)
NM_000314.8(PTEN):c.540C>G (p.Tyr180Ter) rs786202733
NM_000314.8(PTEN):c.540_541delinsGT (p.Tyr180_Leu181delinsTer) rs1554900587
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro) rs1589659492
NM_000314.8(PTEN):c.543_547delinsAT (p.Leu182_Lys183delinsTer)
NM_000314.8(PTEN):c.545T>A (p.Leu182Ter) rs794729664
NM_000314.8(PTEN):c.545T>C (p.Leu182Ser) rs794729664
NM_000314.8(PTEN):c.545T>G (p.Leu182Ter) rs794729664
NM_000314.8(PTEN):c.545_564del (p.Leu181_Leu182insTer)
NM_000314.8(PTEN):c.545dup (p.Leu182fs) rs878853941
NM_000314.8(PTEN):c.546_547insCA (p.Lys183fs) rs2132269329
NM_000314.8(PTEN):c.546_547insT (p.Lys183Ter)
NM_000314.8(PTEN):c.547_548del (p.Lys183fs) rs1554900593
NM_000314.8(PTEN):c.547_549delinsT (p.Leu182_Lys183insTer) rs786204890
NM_000314.8(PTEN):c.548_551del (p.Lys183fs) rs1564837868
NM_000314.8(PTEN):c.548dup (p.Asn184fs) rs1554900593
NM_000314.8(PTEN):c.551_560del (p.Asn184fs)
NM_000314.8(PTEN):c.551del (p.Asn184fs) rs1554900606
NM_000314.8(PTEN):c.55_70del (p.Asp19fs)
NM_000314.8(PTEN):c.55dup (p.Asp19fs)
NM_000314.8(PTEN):c.561_567del (p.Tyr188fs) rs2132269476
NM_000314.8(PTEN):c.562_563insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCNAAAAAAAAAAAAAAAAAAAAAA (p.Tyr188fs) rs2132269496
NM_000314.8(PTEN):c.565A>T (p.Arg189Ter) rs1554900615
NM_000314.8(PTEN):c.56A>T (p.Asp19Val)
NM_000314.8(PTEN):c.570dup (p.Val191fs)
NM_000314.8(PTEN):c.571del (p.Val191fs)
NM_000314.8(PTEN):c.57dup (p.Gly20fs)
NM_000314.8(PTEN):c.581T>A (p.Leu194Ter)
NM_000314.8(PTEN):c.581del (p.Leu194fs)
NM_000314.8(PTEN):c.583_586del (p.Phe195fs)
NM_000314.8(PTEN):c.585dup (p.His196fs) rs786204901
NM_000314.8(PTEN):c.58_61del (p.Gly20fs)
NM_000314.8(PTEN):c.590del (p.Lys197fs) rs2132269684
NM_000314.8(PTEN):c.597_599del (p.Met199_Phe200delinsIle) rs1564837980
NM_000314.8(PTEN):c.599_600del (p.Met199_Phe200insTer)
NM_000314.8(PTEN):c.600del (p.Phe200fs)
NM_000314.8(PTEN):c.605C>T (p.Thr202Ile) rs1085308053
NM_000314.8(PTEN):c.606_610dup (p.Pro204fs)
NM_000314.8(PTEN):c.607_608del (p.Ile203fs) rs1085308054
NM_000314.8(PTEN):c.607del (p.Ile203fs)
NM_000314.8(PTEN):c.607dup (p.Ile203fs)
NM_000314.8(PTEN):c.60dup (p.Phe21fs) rs2132145926
NM_000314.8(PTEN):c.610C>G (p.Pro204Ala) rs786204868
NM_000314.8(PTEN):c.611del (p.Pro204fs)
NM_000314.8(PTEN):c.614del (p.Met205fs)
NM_000314.8(PTEN):c.615_633delinsCA (p.Met205fs) rs1860425389
NM_000314.8(PTEN):c.617_621del (p.Phe206fs) rs1085308055
NM_000314.8(PTEN):c.617del (p.Phe206fs)
NM_000314.8(PTEN):c.621_622insACTG (p.Gly208fs)
NM_000314.8(PTEN):c.623del (p.Gly208fs) rs2132269945
NM_000314.8(PTEN):c.625G>T (p.Gly209Ter) rs765433422
NM_000314.8(PTEN):c.626dup (p.Thr210fs)
NM_000314.8(PTEN):c.628del (p.Thr210fs) rs2132270005
NM_000314.8(PTEN):c.629del (p.Thr210fs) rs1060500114
NM_000314.8(PTEN):c.632dup (p.Cys211fs) rs1114167663
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.8(PTEN):c.633C>G (p.Cys211Trp) rs121909232
NM_000314.8(PTEN):c.634+1G>C rs1114167622
NM_000314.8(PTEN):c.634+1G>T rs1114167622
NM_000314.8(PTEN):c.634+2T>A rs727504114
NM_000314.8(PTEN):c.634+2T>C rs727504114
NM_000314.8(PTEN):c.634+2T>G rs727504114
NM_000314.8(PTEN):c.634+4A>T rs1554900675
NM_000314.8(PTEN):c.634+5G>A rs138336847
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.635-1G>A rs876661024
NM_000314.8(PTEN):c.635-1G>C rs876661024
NM_000314.8(PTEN):c.635-1G>T rs876661024
NM_000314.8(PTEN):c.635-2A>C rs1564566706
NM_000314.8(PTEN):c.635-2A>G rs1564566706
NM_000314.8(PTEN):c.635-3C>G rs1085308056
NM_000314.8(PTEN):c.638del (p.Pro213fs)
NM_000314.8(PTEN):c.639_640delinsCT (p.Gln214Ter)
NM_000314.8(PTEN):c.639_640dup (p.Gln214fs)
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.8(PTEN):c.641del (p.Gln214fs) rs2132276430
NM_000314.8(PTEN):c.641dup (p.Phe215fs) rs2132276426
NM_000314.8(PTEN):c.644_647del (p.Phe215fs)
NM_000314.8(PTEN):c.644_650del (p.Phe215fs) rs2132276439
NM_000314.8(PTEN):c.645del (p.Phe215fs) rs1589663146
NM_000314.8(PTEN):c.645dup (p.Val216fs) rs1589663146
NM_000314.8(PTEN):c.647_648del (p.Val216fs)
NM_000314.8(PTEN):c.648_649insACCG (p.Val217fs)
NM_000314.8(PTEN):c.64dup (p.Asp22fs) rs1858399718
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter) rs1554825165
NM_000314.8(PTEN):c.655C>T (p.Gln219Ter)
NM_000314.8(PTEN):c.658_659dup (p.Leu220_Lys221insTer) rs2132276566
NM_000314.8(PTEN):c.659_660dup (p.Lys221Ter) rs2132276578
NM_000314.8(PTEN):c.659_665del (p.Leu220fs)
NM_000314.8(PTEN):c.661A>T (p.Lys221Ter)
NM_000314.8(PTEN):c.661_683del (p.Lys221fs)
NM_000314.8(PTEN):c.664_691dup (p.Pro231fs)
NM_000314.8(PTEN):c.664del (p.Lys221_Val222insTer)
NM_000314.8(PTEN):c.667A>T (p.Lys223Ter) rs1085308049
NM_000314.8(PTEN):c.672_673insC (p.Tyr225fs) rs2132276692
NM_000314.8(PTEN):c.672del (p.Tyr225fs) rs1564566774
NM_000314.8(PTEN):c.672dup (p.Tyr225fs) rs2132276683
NM_000314.8(PTEN):c.674_675dup (p.Ser226fs) rs2132276661
NM_000314.8(PTEN):c.675T>A (p.Tyr225Ter)
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000314.8(PTEN):c.676del (p.Ser226fs)
NM_000314.8(PTEN):c.685_686dup (p.Gly230fs) rs1564566801
NM_000314.8(PTEN):c.685_688del (p.Ser229fs) rs2132276818
NM_000314.8(PTEN):c.686C>A (p.Ser229Ter)
NM_000314.8(PTEN):c.686C>G (p.Ser229Ter) rs1214965807
NM_000314.8(PTEN):c.688G>T (p.Gly230Ter)
NM_000314.8(PTEN):c.688_689dup (p.Pro231fs) rs2132276853
NM_000314.8(PTEN):c.68T>G (p.Leu23Ter) rs1589596407
NM_000314.8(PTEN):c.68del (p.Asp22_Leu23insTer) rs1554890400
NM_000314.8(PTEN):c.693del (p.Thr232fs) rs1554825189
NM_000314.8(PTEN):c.694dup (p.Thr232fs)
NM_000314.8(PTEN):c.696del (p.Arg233fs) rs587776669
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.698dup (p.Arg234fs)
NM_000314.8(PTEN):c.69_79delAGACTTGACCT (p.Asp24fs)
NM_000314.8(PTEN):c.69dup (p.Asp24fs) rs1589596415
NM_000314.8(PTEN):c.700_709dup (p.Lys237fs)
NM_000314.8(PTEN):c.702_703delinsC (p.Glu235fs) rs1131691831
NM_000314.8(PTEN):c.702_706del (p.Glu235fs)
NM_000314.8(PTEN):c.703del (p.Glu235fs)
NM_000314.8(PTEN):c.705del (p.Asp236fs) rs1554825202
NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr) rs786201995
NM_000314.8(PTEN):c.711del (p.Lys237fs) rs1860544511
NM_000314.8(PTEN):c.713del (p.Phe238fs)
NM_000314.8(PTEN):c.717_721del (p.Met239fs)
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.720C>A (p.Tyr240Ter)
NM_000314.8(PTEN):c.720C>G (p.Tyr240Ter) rs190070312
NM_000314.8(PTEN):c.720_721insCA (p.Phe241fs) rs1554825206
NM_000314.8(PTEN):c.721_730del (p.Phe241fs) rs2132277143
NM_000314.8(PTEN):c.722_723dup (p.Glu242fs) rs1060500115
NM_000314.8(PTEN):c.722_723insGG (p.Phe241fs) rs2132277178
NM_000314.8(PTEN):c.723_724dup (p.Glu242fs) rs1554825209
NM_000314.8(PTEN):c.723del (p.Phe241fs) rs1060500115
NM_000314.8(PTEN):c.723dup (p.Glu242Ter) rs1060500115
NM_000314.8(PTEN):c.724G>T (p.Glu242Ter)
NM_000314.8(PTEN):c.728del (p.Phe243fs)
NM_000314.8(PTEN):c.729_740del (p.Phe243_Pro246del)
NM_000314.8(PTEN):c.731del (p.Pro244fs)
NM_000314.8(PTEN):c.732_733insGG (p.Gln245fs)
NM_000314.8(PTEN):c.732_781del (p.Gln245fs)
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.737_738insT (p.Leu247fs)
NM_000314.8(PTEN):c.737del (p.Pro246fs)
NM_000314.8(PTEN):c.738_739dup (p.Leu247fs) rs1589663442
NM_000314.8(PTEN):c.739_740insAGT (p.Leu247Ter) rs1589663442
NM_000314.8(PTEN):c.739_742delinsGG (p.Leu247fs)
NM_000314.8(PTEN):c.73_74del (p.Leu25fs)
NM_000314.8(PTEN):c.740T>A (p.Leu247Ter) rs1057519368
NM_000314.8(PTEN):c.740del (p.Leu247fs) rs1114167662
NM_000314.8(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.8(PTEN):c.743del (p.Pro248fs)
NM_000314.8(PTEN):c.748_749insCCAC (p.Cys250fs)
NM_000314.8(PTEN):c.748dup (p.Cys250fs)
NM_000314.8(PTEN):c.750T>A (p.Cys250Ter) rs767623493
NM_000314.8(PTEN):c.750_751del (p.Cys250fs) rs780264945
NM_000314.8(PTEN):c.750_751insC (p.Gly251fs) rs1860548195
NM_000314.8(PTEN):c.752del (p.Gly251fs)
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.8(PTEN):c.755A>T (p.Asp252Val) rs121909239
NM_000314.8(PTEN):c.757_758dup (p.Lys254fs) rs878853942
NM_000314.8(PTEN):c.758_761del (p.Ile253fs) rs786204903
NM_000314.8(PTEN):c.758_780dup (p.Gln261delinsSerLysTer)
NM_000314.8(PTEN):c.759del (p.Lys254_Val255insTer)
NM_000314.8(PTEN):c.75G>C (p.Leu25Phe) rs786201506
NM_000314.8(PTEN):c.75_76del (p.Leu25fs)
NM_000314.8(PTEN):c.766G>T (p.Glu256Ter) rs121909228
NM_000314.8(PTEN):c.767_768del (p.Glu256fs) rs869312780
NM_000314.8(PTEN):c.76A>C (p.Thr26Pro) rs876661010
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000314.8(PTEN):c.783del (p.Asn262fs) rs1860551073
NM_000314.8(PTEN):c.784_788del (p.Asn262fs)
NM_000314.8(PTEN):c.785dup (p.Asn262fs) rs2132277715
NM_000314.8(PTEN):c.789del (p.Met264fs)
NM_000314.8(PTEN):c.794T>C (p.Leu265Pro) rs1335033900
NM_000314.8(PTEN):c.796A>T (p.Lys266Ter) rs1554825260
NM_000314.8(PTEN):c.799_800del (p.Lys267fs)
NM_000314.8(PTEN):c.799_800insTT (p.Lys267fs) rs1860552294
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_000314.8(PTEN):c.800dup (p.Asp268fs)
NM_000314.8(PTEN):c.801+1G>A rs786204873
NM_000314.8(PTEN):c.801+1G>C rs786204873
NM_000314.8(PTEN):c.801+1G>T rs786204873
NM_000314.8(PTEN):c.801+1del rs1060500110
NM_000314.8(PTEN):c.801+2T>A rs1114167665
NM_000314.8(PTEN):c.801+2T>C rs1114167665
NM_000314.8(PTEN):c.801G>C (p.Lys267Asn) rs1554825266
NM_000314.8(PTEN):c.802-131_935del rs1860608927
NM_000314.8(PTEN):c.802-1G>A rs1257124719
NM_000314.8(PTEN):c.802-1G>C
NM_000314.8(PTEN):c.802-1G>T rs1257124719
NM_000314.8(PTEN):c.802-2A>G rs587782455
NM_000314.8(PTEN):c.802-6_802-2delinsG
NM_000314.8(PTEN):c.806_831del (p.Lys269fs)
NM_000314.8(PTEN):c.808_809insACAA (p.Met270fs)
NM_000314.8(PTEN):c.808del (p.Met270fs)
NM_000314.8(PTEN):c.812_833delinsCTTTTCTTTTTTTTTTTTTTTTAGGACAAAATGTTTCA (p.Phe271fs)
NM_000314.8(PTEN):c.81T>A (p.Tyr27Ter)
NM_000314.8(PTEN):c.820del (p.Trp274fs)
NM_000314.8(PTEN):c.820dup (p.Trp274fs)
NM_000314.8(PTEN):c.821G>A (p.Trp274Ter) rs786204875
NM_000314.8(PTEN):c.821G>T (p.Trp274Leu) rs786204875
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter) rs587782607
NM_000314.8(PTEN):c.822_823del (p.Trp274fs)
NM_000314.8(PTEN):c.823_824del (p.Val275fs) rs1589665610
NM_000314.8(PTEN):c.823del (p.Trp274_Val275insTer) rs1860617439
NM_000314.8(PTEN):c.827del (p.Asn276fs) rs886044679
NM_000314.8(PTEN):c.829A>G (p.Thr277Ala) rs1564568216
NM_000314.8(PTEN):c.829dup (p.Thr277fs) rs1589665640
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg) rs398123329
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile) rs398123329
NM_000314.8(PTEN):c.833_834delinsAA (p.Phe278Ter)
NM_000314.8(PTEN):c.833del (p.Phe278fs)
NM_000314.8(PTEN):c.83_84insCTAT (p.Pro30fs)
NM_000314.8(PTEN):c.840_841del (p.Pro281fs) rs1589665670
NM_000314.8(PTEN):c.841_851del (p.Pro281fs)
NM_000314.8(PTEN):c.845del (p.Gly282fs) rs864622451
NM_000314.8(PTEN):c.846_847del (p.Pro283fs)
NM_000314.8(PTEN):c.849_852dup (p.Glu285fs)
NM_000314.8(PTEN):c.84_87del (p.Tyr29fs)
NM_000314.8(PTEN):c.850_860del (p.Glu284fs)
NM_000314.8(PTEN):c.853G>T (p.Glu285Ter)
NM_000314.8(PTEN):c.855_856del (p.Glu285fs) rs1860620392
NM_000314.8(PTEN):c.860C>A (p.Ser287Ter) rs863224909
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.8(PTEN):c.863_865delinsCT (p.Glu288fs) rs1589665750
NM_000314.8(PTEN):c.865A>T (p.Lys289Ter) rs562015640
NM_000314.8(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.8(PTEN):c.865_866insTTCT (p.Lys289fs) rs1554825530
NM_000314.8(PTEN):c.867del (p.Lys289_Val290insTer)
NM_000314.8(PTEN):c.867dup (p.Val290fs)
NM_000314.8(PTEN):c.868_892del (p.Val290fs)
NM_000314.8(PTEN):c.871G>T (p.Glu291Ter)
NM_000314.8(PTEN):c.874_877dup (p.Gly293fs)
NM_000314.8(PTEN):c.875del (p.Asn292fs) rs786204905
NM_000314.8(PTEN):c.875dup (p.Asn292fs) rs786204905
NM_000314.8(PTEN):c.876_880del (p.Asn292fs)
NM_000314.8(PTEN):c.877G>T (p.Gly293Ter) rs878853944
NM_000314.8(PTEN):c.877_923dup (p.Arg308_Ala309insGluValTyrValIleLysLysSerIleAlaPheAlaValTer)
NM_000314.8(PTEN):c.87T>A (p.Tyr29Ter) rs1554893756
NM_000314.8(PTEN):c.880dup (p.Ser294fs)
NM_000314.8(PTEN):c.883_884del (p.Leu295fs)
NM_000314.8(PTEN):c.884dup (p.Cys296fs) rs587780006
NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer) rs1564568350
NM_000314.8(PTEN):c.885_888del (p.Cys296fs) rs1114167675
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter) rs1589665853
NM_000314.8(PTEN):c.892C>T (p.Gln298Ter) rs371387815
NM_000314.8(PTEN):c.894dup (p.Glu299fs)
NM_000314.8(PTEN):c.895G>T (p.Glu299Ter) rs1114167674
NM_000314.8(PTEN):c.900del (p.Ile300fs) rs797045904
NM_000314.8(PTEN):c.901dup (p.Asp301fs) rs1646757490
NM_000314.8(PTEN):c.904_910del (p.Ser302fs)
NM_000314.8(PTEN):c.910_934del (p.Cys304fs)
NM_000314.8(PTEN):c.913del (p.Ser305fs) rs1860625404
NM_000314.8(PTEN):c.915del (p.Ser305fs) rs1589665953
NM_000314.8(PTEN):c.917_920dup (p.Glu307fs) rs2132282693
NM_000314.8(PTEN):c.919G>T (p.Glu307Ter) rs746930141
NM_000314.8(PTEN):c.920_921del (p.Glu307fs) rs2132282720
NM_000314.8(PTEN):c.920_921dup (p.Arg308fs)
NM_000314.8(PTEN):c.922del (p.Arg308fs)
NM_000314.8(PTEN):c.924_928dup (p.Asp310fs)
NM_000314.8(PTEN):c.928_929insTT (p.Asp310fs) rs786204906
NM_000314.8(PTEN):c.929del (p.Asp310fs) rs1589665989
NM_000314.8(PTEN):c.92del (p.Asn31fs) rs1564814427
NM_000314.8(PTEN):c.930delinsAA (p.Asp310fs)
NM_000314.8(PTEN):c.932del (p.Asn311fs)
NM_000314.8(PTEN):c.940del (p.Glu314fs)
NM_000314.8(PTEN):c.945T>A (p.Tyr315Ter) rs876661058
NM_000314.8(PTEN):c.945T>G (p.Tyr315Ter) rs876661058
NM_000314.8(PTEN):c.949del (p.Val317fs) rs876658837
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000314.8(PTEN):c.951dup (p.Leu318fs)
NM_000314.8(PTEN):c.955_956insTCTGACAAGGAATATCTAGTACTTA (p.Thr319delinsIleTer) rs1589665998
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273
NM_000314.8(PTEN):c.955dup (p.Thr319fs) rs786204892
NM_000314.8(PTEN):c.956_959del (p.Thr319fs) rs398123330
NM_000314.8(PTEN):c.956_960del (p.Thr319fs) rs1589666094
NM_000314.8(PTEN):c.958_959del (p.Leu320fs) rs1114167682
NM_000314.8(PTEN):c.958_959insG (p.Leu320fs)
NM_000314.8(PTEN):c.959T>A (p.Leu320Ter) rs1114167667
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter) rs1114167667
NM_000314.8(PTEN):c.959del (p.Thr319_Leu320insTer) rs1114167682
NM_000314.8(PTEN):c.959dup (p.Leu320fs)
NM_000314.8(PTEN):c.964A>T (p.Lys322Ter) rs786202004
NM_000314.8(PTEN):c.966_967delinsG (p.Asn323fs)
NM_000314.8(PTEN):c.968del (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000314.8(PTEN):c.969del (p.Asn323fs)
NM_000314.8(PTEN):c.972_977del (p.Leu325_Asp326del) rs1860630372
NM_000314.8(PTEN):c.972del (p.Asp326fs) rs1860630701
NM_000314.8(PTEN):c.973del (p.Asp326fs) rs1554825602
NM_000314.8(PTEN):c.975_982del (p.Asp326fs)
NM_000314.8(PTEN):c.976G>A (p.Asp326Asn)
NM_000314.8(PTEN):c.97_98del (p.Ile33fs) rs876658171
NM_000314.8(PTEN):c.980_981del (p.Lys327fs)
NM_000314.8(PTEN):c.982del (p.Ala328fs)
NM_000314.8(PTEN):c.986del (p.Asn329fs)
NM_000314.8(PTEN):c.987_990del (p.Asn329fs) rs587782304
NM_000314.8(PTEN):c.987_990dup (p.Asp331Ter)
NM_000314.8(PTEN):c.987_996dup (p.Ala333Ter) rs864622387
NM_000314.8(PTEN):c.988_1014delinsTATCCATATAGATAATTTAACTGA (p.Lys330_Ser338delinsTyrProTyrArgTer)
NM_000314.8(PTEN):c.989_990del (p.Lys330fs) rs1249338494
NM_000314.8(PTEN):c.989_992del (p.Lys330fs) rs2132283419
NM_000314.8(PTEN):c.990del (p.Asp331fs)
NM_000314.8(PTEN):c.991_992del (p.Asp331fs) rs1554825611
NM_000314.8(PTEN):c.996dup (p.Ala333fs) rs1554825615
NM_000314.8(PTEN):c.999dup (p.Asn334fs)
NM_000351.4:g.(?_6551155)_(8032120_?)del
NM_000353.3(TAT):c.1047del (p.Asn349fs) rs1555537673
NM_000353.3(TAT):c.1125+1del
NM_000353.3(TAT):c.1188_1191del (p.Val397fs)
NM_000353.3(TAT):c.1224G>T (p.Thr408=)
NM_000353.3(TAT):c.169C>T (p.Arg57Ter) rs118203914
NM_000353.3(TAT):c.177dup (p.Val60fs) rs1555538156
NM_000353.3(TAT):c.226dup (p.Leu76fs) rs746077579
NM_000353.3(TAT):c.236-5A>G rs587776512
NM_000353.3(TAT):c.308_309delinsAA (p.Ser103Ter) rs2145235661
NM_000353.3(TAT):c.358del (p.Glu120fs)
NM_000353.3(TAT):c.582G>A (p.Trp194Ter) rs2145232689
NM_000353.3(TAT):c.648del (p.Pro217fs)
NM_000353.3(TAT):c.668C>G (p.Ser223Ter) rs118203915
NM_000353.3(TAT):c.707-2A>G rs1005382525
NM_000353.3(TAT):c.742G>T (p.Glu248Ter)
NM_000353.3(TAT):c.814del (p.Ile272fs) rs2044197900
NM_000353.3(TAT):c.825T>A (p.Cys275Ter)
NM_000353.3(TAT):c.825del (p.Cys275fs) rs2145231253
NM_000353.3(TAT):c.89del (p.Val30fs) rs2145236067
NM_000353.3(TAT):c.966del (p.Ile322fs) rs2145230737
NM_000353.3(TAT):c.9dup (p.Tyr4fs) rs2145236177
NM_000353.3(TAT):c.[1085G>T;912+2T>G]
NM_000359.3(TGM1):c.1019G>A (p.Gly340Glu) rs867950920
NM_000359.3(TGM1):c.1054C>G (p.Pro352Ala) rs1594571148
NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg) rs779287673
NM_000359.3(TGM1):c.1145_1146delinsTGCT (p.Gly382fs)
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.3(TGM1):c.1166G>C (p.Arg389Pro) rs121918723
NM_000359.3(TGM1):c.1175G>A (p.Gly392Asp) rs121918726
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.3(TGM1):c.1226_1227del (p.Thr409fs) rs1555306113
NM_000359.3(TGM1):c.1264A>T (p.Lys422Ter) rs563305936
NM_000359.3(TGM1):c.1297del (p.Trp433fs) rs2139023508
NM_000359.3(TGM1):c.1298+1G>A rs1566378425
NM_000359.3(TGM1):c.1304_1308del (p.Phe435fs) rs398122900
NM_000359.3(TGM1):c.1307A>G (p.His436Arg) rs1381998109
NM_000359.3(TGM1):c.131G>A (p.Trp44Ter) rs1566381457
NM_000359.3(TGM1):c.1331dup (p.Arg445fs) rs398122903
NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg) rs863223405
NM_000359.3(TGM1):c.1402+1G>A rs2040774076
NM_000359.3(TGM1):c.1521del (p.Gln508fs) rs1566377068
NM_000359.3(TGM1):c.1621A>C (p.Thr541Pro) rs587779765
NM_000359.3(TGM1):c.1645+1G>A
NM_000359.3(TGM1):c.1923_1927+2del rs398122902
NM_000359.3(TGM1):c.1927+1G>A
NM_000359.3(TGM1):c.1928-1G>A rs112419023
NM_000359.3(TGM1):c.1977del (p.Val660fs)
NM_000359.3(TGM1):c.1984C>T (p.Gln662Ter) rs1555305725
NM_000359.3(TGM1):c.2060G>A (p.Arg687His) rs2139018911
NM_000359.3(TGM1):c.2090T>G (p.Leu697Ter) rs747781875
NM_000359.3(TGM1):c.2114del (p.Gln705fs) rs2139018490
NM_000359.3(TGM1):c.211C>T (p.Arg71Ter) rs2040818118
NM_000359.3(TGM1):c.2226-2A>G rs752349623
NM_000359.3(TGM1):c.305A>T (p.Asp102Val) rs398122901
NM_000359.3(TGM1):c.344dup (p.Asp116fs)
NM_000359.3(TGM1):c.370C>T (p.Gln124Ter)
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000359.3(TGM1):c.400T>C (p.Tyr134His) rs1230140208
NM_000359.3(TGM1):c.408_411dup (p.Glu138fs) rs2139027688
NM_000359.3(TGM1):c.425G>C (p.Arg142Pro) rs121918718
NM_000359.3(TGM1):c.479C>G (p.Ser160Cys) rs121918728
NM_000359.3(TGM1):c.566dup (p.Ser190fs) rs1211601030
NM_000359.3(TGM1):c.578G>A (p.Trp193Ter)
NM_000359.3(TGM1):c.607C>T (p.Gln203Ter) rs201167101
NM_000359.3(TGM1):c.614T>A (p.Leu205Gln) rs878853259
NM_000359.3(TGM1):c.674_675delinsCT (p.Arg225Pro) rs2139026104
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter) rs972054392
NM_000359.3(TGM1):c.802del (p.Val268fs) rs1322979131
NM_000359.3(TGM1):c.826T>A (p.Tyr276Asn) rs397514523
NM_000359.3(TGM1):c.866A>C (p.Asn289Thr) rs121918730
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.3(TGM1):c.944G>A (p.Arg315His) rs143473912
NM_000359.3(TGM1):c.984+1G>A rs749160734
NM_000372.5(TYR):c.1036G>A (p.Gly346Arg) rs1013801316
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1037G>T (p.Gly346Val) rs773970123
NM_000372.5(TYR):c.1056del (p.Gly353_Ile354insTer) rs1943996205
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) rs104894315
NM_000372.5(TYR):c.1164del (p.His389fs) rs281865522
NM_000372.5(TYR):c.1168C>G (p.His390Asp) rs62645914
NM_000372.5(TYR):c.1185-2A>G rs1289685376
NM_000372.5(TYR):c.1200G>A (p.Trp400Ter)
NM_000372.5(TYR):c.1200G>T (p.Trp400Cys)
NM_000372.5(TYR):c.1237del (p.Glu413fs) rs1565423615
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1267del (p.Glu423fs) rs1565423674
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter) rs1590902378
NM_000372.5(TYR):c.1322del (p.Ser441fs)
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.1456del (p.Ala486fs) rs1590909462
NM_000372.5(TYR):c.216del (p.Val74fs) rs1565386406
NM_000372.5(TYR):c.229C>G (p.Arg77Gly)
NM_000372.5(TYR):c.255del (p.Phe84_Tyr85insTer)
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) rs137854890
NM_000372.5(TYR):c.272G>C (p.Cys91Ser)
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.338_339del (p.Thr113fs) rs61753254
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs) rs1565386582
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181
NM_000372.5(TYR):c.425A>T (p.Lys142Met)
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.593T>C (p.Ile198Thr)
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.655G>A (p.Glu219Lys) rs747995722
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.70T>C (p.Cys24Arg)
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter) rs765329261
NM_000372.5(TYR):c.773_774del (p.Thr258fs) rs1374400414
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.826T>C (p.Cys276Arg)
NM_000372.5(TYR):c.859dup (p.Ser287fs) rs2135253148
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.976C>T (p.Gln326Ter) rs540911439
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000374.5(UROD):c.185C>T (p.Pro62Leu) rs121918060
NM_000374.5(UROD):c.21-1G>C rs1644814606
NM_000374.5(UROD):c.499G>A (p.Glu167Lys) rs121918058
NM_000374.5(UROD):c.583C>T (p.Leu195Phe) rs121918064
NM_000374.5(UROD):c.842G>A (p.Gly281Glu) rs121918057
NM_000374.5(UROD):c.874C>G (p.Arg292Gly) rs121918059
NM_000374.5(UROD):c.904C>T (p.Gln302Ter) rs1569967143
NM_000374.5(UROD):c.942G>A (p.Glu314=) rs121918062
NM_000374.5(UROD):c.995G>A (p.Arg332His) rs121918066
NM_000375.3(UROS):c.-26-183G>A rs397515349
NM_000375.3(UROS):c.-26-197C>A rs397515351
NM_000375.3(UROS):c.158C>T (p.Pro53Leu) rs121908013
NM_000375.3(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.3(UROS):c.243A>T (p.Glu81Asp) rs121908018
NM_000375.3(UROS):c.395-1dup rs796051859
NM_000375.3(UROS):c.562G>A (p.Gly188Arg) rs121908017
NM_000375.3(UROS):c.562G>T (p.Gly188Trp) rs121908017
NM_000375.3(UROS):c.56A>G (p.Tyr19Cys) rs1590007244
NM_000375.3(UROS):c.743C>A (p.Pro248Gln) rs121908021
NM_000380.4(XPA):c.172+2T>G rs1587755557
NM_000380.4(XPA):c.266_267dup (p.Val90fs) rs759052378
NM_000380.4(XPA):c.283G>A (p.Gly95Arg)
NM_000380.4(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000380.4(XPA):c.348T>A (p.Tyr116Ter) rs104894134
NM_000380.4(XPA):c.349_353del (p.Leu117fs) rs1200172747
NM_000380.4(XPA):c.374del (p.Thr125fs) rs1828818571
NM_000380.4(XPA):c.389+1G>A rs1554701931
NM_000380.4(XPA):c.389+1G>T
NM_000380.4(XPA):c.428_429del (p.Glu143fs) rs1554701540
NM_000380.4(XPA):c.451A>T (p.Lys151Ter) rs1554701532
NM_000380.4(XPA):c.472dup (p.Arg158fs) rs1554701520
NM_000380.4(XPA):c.520C>T (p.Gln174Ter)
NM_000380.4(XPA):c.540_541del (p.Tyr181fs) rs2131396482
NM_000380.4(XPA):c.545_546insTA (p.Leu182fs) rs786205205
NM_000380.4(XPA):c.553C>T (p.Gln185Ter) rs1828741490
NM_000380.4(XPA):c.631C>T (p.Arg211Ter) rs149226993
NM_000380.4(XPA):c.640dup (p.Met214fs)
NM_000380.4(XPA):c.648_649del (p.Lys217fs) rs1057519018
NM_000380.4(XPA):c.689dup (p.Arg231fs) rs2131379218
NM_000380.4(XPA):c.759dup (p.Asp254fs)
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000400.4(ERCC2):c.1017_1018insTC (p.Val340fs)
NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter) rs1568546252
NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro) rs121913025
NM_000400.4(ERCC2):c.1532G>A (p.Arg511Gln)
NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg) rs121913019
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1745_1747delinsTTTCGG (p.Glu582_Lys583delinsValSerGlu) rs2123229159
NM_000400.4(ERCC2):c.184-1G>T rs1568546120
NM_000400.4(ERCC2):c.1852_1871dup (p.Tyr625fs)
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs) rs1971844960
NM_000400.4(ERCC2):c.2074A>G (p.Lys692Glu)
NM_000400.4(ERCC2):c.2176C>T (p.Gln726Ter) rs121913017
NM_000400.4(ERCC2):c.2190+1del rs1476160722
NM_000400.4(ERCC2):c.2191-1G>A
NM_000400.4(ERCC2):c.262C>T (p.Arg88Ter)
NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter) rs964247601
NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer) rs767747355
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.851del (p.Glu284fs) rs2123288444
NM_000400.4(ERCC2):c.949+5G>A rs899469885
NM_000400.4(ERCC2):c.[1381C>G;2150C>G]
NM_000421.5(KRT10):c.1155+5G>A rs267607381
NM_000421.5(KRT10):c.1264_1265delinsGA (p.Arg422Glu) rs59075499
NM_000421.5(KRT10):c.1281C>A (p.Cys427Ter) rs387906640
NM_000421.5(KRT10):c.1300C>T (p.Gln434Ter) rs60035576
NM_000421.5(KRT10):c.1304T>C (p.Leu435Pro)
NM_000421.5(KRT10):c.1314_1315insC (p.Lys439fs) rs267607379
NM_000421.5(KRT10):c.1315A>G (p.Lys439Glu) rs61434181
NM_000421.5(KRT10):c.1325T>A (p.Leu442Gln) rs58026994
NM_000421.5(KRT10):c.1337T>C (p.Ile446Thr) rs62651994
NM_000421.5(KRT10):c.1373+1G>A rs587776816
NM_000421.5(KRT10):c.1373+1del rs2143133654
NM_000421.5(KRT10):c.1374-1G>C rs2143131560
NM_000421.5(KRT10):c.1374-2A>G rs587776815
NM_000421.5(KRT10):c.1403_1417delinsA (p.Ser468fs) rs2143130756
NM_000421.5(KRT10):c.1449dup (p.Gly484fs) rs587776817
NM_000421.5(KRT10):c.1560_1561del (p.Gly521fs) rs267607384
NM_000421.5(KRT10):c.449T>C (p.Met150Thr) rs58901407
NM_000421.5(KRT10):c.449T>G (p.Met150Arg) rs58901407
NM_000421.5(KRT10):c.460A>C (p.Asn154His) rs57784225
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) rs58852768
NM_000421.5(KRT10):c.467G>A (p.Arg156His) rs58075662
NM_000421.5(KRT10):c.467G>T (p.Arg156Leu) rs58075662
NM_000421.5(KRT10):c.470T>C (p.Leu157Pro) rs2143150768
NM_000421.5(KRT10):c.478T>G (p.Tyr160Asp) rs58414354
NM_000421.5(KRT10):c.482T>C (p.Leu161Ser) rs60118264
NM_000422.3(KRT17):c.263T>C (p.Met88Thr) rs28928898
NM_000422.3(KRT17):c.274A>C (p.Asn92His) rs28928896
NM_000422.3(KRT17):c.274A>G (p.Asn92Asp) rs28928896
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) rs59151893
NM_000422.3(KRT17):c.281G>A (p.Arg94His) rs28928897
NM_000422.3(KRT17):c.281G>C (p.Arg94Pro) rs28928897
NM_000422.3(KRT17):c.281_295del (p.Arg94_Tyr98del) rs57674130
NM_000422.3(KRT17):c.284T>A (p.Leu95Gln) rs28928899
NM_000422.3(KRT17):c.284T>C (p.Leu95Pro) rs28928899
NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del) rs121912478
NM_000422.3(KRT17):c.292T>G (p.Tyr98Asp) rs28933088
NM_000422.3(KRT17):c.296T>C (p.Leu99Pro) rs28933089
NM_000422.3(KRT17):c.304G>A (p.Val102Met) rs59977263
NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys) rs56829062
NM_000423.3(KRT2):c.1435A>C (p.Thr479Pro) rs137852630
NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) rs137852629
NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp) rs137852628
NM_000423.3(KRT2):c.542A>C (p.Gln181Pro) rs57510142
NM_000423.3(KRT2):c.556A>G (p.Asn186Asp) rs137852631
NM_000423.3(KRT2):c.556A>T (p.Asn186Tyr) rs137852631
NM_000423.3(KRT2):c.558C>A (p.Asn186Lys) rs137852632
NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr) rs267607458
NM_000424.4(KRT5):c.1283C>T (p.Ala428Val) rs59243757
NM_000424.4(KRT5):c.1321_1332del (p.Lys441_Gln444del) rs2120475630
NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro) rs57599352
NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln) rs1938615785
NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp) rs62642056
NM_000424.4(KRT5):c.1414A>T (p.Lys472Ter) rs57348201
NM_000424.4(KRT5):c.1424A>G (p.Glu475Gly) rs61348633
NM_000424.4(KRT5):c.1427G>A (p.Gly476Asp) rs56922686
NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) rs59190510
NM_000424.4(KRT5):c.1429G>T (p.Glu477Ter) rs59190510
NM_000424.4(KRT5):c.14C>A (p.Ser5Ter) rs58751565
NM_000424.4(KRT5):c.1635del (p.Leu546fs) rs57187183
NM_000424.4(KRT5):c.1638_1641del (p.Ser547fs) rs2120468389
NM_000424.4(KRT5):c.1649del (p.Gly550fs) rs61126080
NM_000424.4(KRT5):c.1650del (p.Ser551fs) rs2120468268
NM_000424.4(KRT5):c.20T>C (p.Val7Ala) rs121912474
NM_000424.4(KRT5):c.418dup (p.Ile140fs) rs61348424
NM_000424.4(KRT5):c.482T>G (p.Ile161Ser) rs58058996
NM_000424.4(KRT5):c.495G>T (p.Arg165Ser) rs267607456
NM_000424.4(KRT5):c.519G>C (p.Lys173Asn) rs58163069
NM_000424.4(KRT5):c.523C>T (p.Leu175Phe) rs57890479
NM_000424.4(KRT5):c.541T>C (p.Ser181Pro) rs60715293
NM_000424.4(KRT5):c.555+1G>A rs886039403
NM_000424.4(KRT5):c.556-16C>G rs376462752
NM_000424.4(KRT5):c.556G>A (p.Val186Met) rs121912475
NM_000424.4(KRT5):c.556G>T (p.Val186Leu) rs121912475
NM_000424.4(KRT5):c.557T>A (p.Val186Glu) rs267607457
NM_000424.4(KRT5):c.571C>G (p.Gln191Glu) rs1938667202
NM_000424.4(KRT5):c.579C>G (p.Asn193Lys) rs60586163
NM_000424.4(KRT5):c.587T>C (p.Leu196Pro) rs1938666838
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) rs57499817
NM_000424.4(KRT5):c.771delG rs1938645889
NM_000424.4(KRT5):c.961A>C (p.Thr321Pro) rs1938635857
NM_000424.4(KRT5):c.968T>C (p.Val323Ala) rs59840738
NM_000424.4(KRT5):c.980T>C (p.Met327Thr) rs58072617
NM_000424.4(KRT5):c.983A>T (p.Asp328Val) rs57142010
NM_000424.4(KRT5):c.987C>A (p.Asn329Lys) rs59730172
NM_000424.4(KRT5):c.991C>T (p.Arg331Cys) rs61297109
NM_000427.3(LORICRIN):c.515dup (p.Gly173fs)
NM_000427.3(LORICRIN):c.664dup (p.Gln222fs)
NM_000427.3(LORICRIN):c.684dup (p.Ser229fs) rs886041212
NM_000431.2(MVK):c.-1880_527+533del
NM_000431.4(MVK):c.1039+1G>A rs104895362
NM_000431.4(MVK):c.1039+2T>C rs398122910
NM_000431.4(MVK):c.1063del (p.Ala355fs)
NM_000431.4(MVK):c.1072C>T (p.Gln358Ter)
NM_000431.4(MVK):c.1090_1091del (p.Gly364fs)
NM_000431.4(MVK):c.1094T>C (p.Phe365Ser) rs398122911
NM_000431.4(MVK):c.122T>C (p.Leu41Pro) rs397514571
NM_000431.4(MVK):c.129_130del (p.His44fs) rs104895368
NM_000431.4(MVK):c.185G>A (p.Trp62Ter) rs104895306
NM_000431.4(MVK):c.1A>C (p.Met1Leu)
NM_000431.4(MVK):c.207_208del (p.Leu70fs)
NM_000431.4(MVK):c.277_283del (p.Glu93fs) rs104895369
NM_000431.4(MVK):c.345dup (p.Tyr116fs)
NM_000431.4(MVK):c.386_422del (p.Leu129fs)
NM_000431.4(MVK):c.395del (p.Val132fs)
NM_000431.4(MVK):c.417del (p.Ala141fs)
NM_000431.4(MVK):c.417dup (p.Gly140fs) rs104895373
NM_000431.4(MVK):c.46_49del (p.Leu16fs)
NM_000431.4(MVK):c.481_482del (p.Cys161fs)
NM_000431.4(MVK):c.545T>A (p.Leu182Ter) rs1566147222
NM_000431.4(MVK):c.605dup (p.Val203fs) rs2136236945
NM_000431.4(MVK):c.60T>A (p.His20Gln) rs104895335
NM_000431.4(MVK):c.621_630del (p.Ser208fs)
NM_000431.4(MVK):c.629G>A (p.Trp210Ter)
NM_000431.4(MVK):c.643C>T (p.Arg215Ter) rs758026399
NM_000431.4(MVK):c.661_668dup (p.Leu224fs)
NM_000431.4(MVK):c.664del (p.Ser222fs)
NM_000431.4(MVK):c.671T>G (p.Leu224Ter)
NM_000431.4(MVK):c.712A>T (p.Lys238Ter)
NM_000431.4(MVK):c.764T>C (p.Leu255Pro) rs397514570
NM_000431.4(MVK):c.790dup (p.Leu264fs)
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000431.4(MVK):c.943_944del (p.Leu315fs) rs776735249
NM_000431.4(MVK):c.976G>A (p.Gly326Arg) rs104895308
NM_000431.4(MVK):c.976G>T (p.Gly326Ter)
NM_000431.4(MVK):c.987C>G (p.Ser329Arg) rs104895326
NM_000445.5(PLEC):c.106_119dup (p.Gly44fs) rs2133006435
NM_000448.2(RAG1):c.[1519C>T;2210G>A]
NM_000448.2(RAG1):c.[1871G>A;2182T>C]
NM_000448.2(RAG1):c.[2119G>C;519delT]
NM_000448.3(RAG1):c.1010del (p.Pro337fs)
NM_000448.3(RAG1):c.1096G>T (p.Glu366Ter)
NM_000448.3(RAG1):c.1148_1149del (p.Lys383fs)
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp) rs1590702874
NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln) rs1850805503
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) rs764981110
NM_000448.3(RAG1):c.1297del (p.Val433fs)
NM_000448.3(RAG1):c.1366del (p.Ala456fs)
NM_000448.3(RAG1):c.1501C>T (p.Gln501Ter)
NM_000448.3(RAG1):c.1565G>A (p.Trp522Ter)
NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs) rs749256215
NM_000448.3(RAG1):c.1621del (p.Leu541fs) rs1590703275
NM_000448.3(RAG1):c.1653C>G (p.Tyr551Ter)
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) rs199474681
NM_000448.3(RAG1):c.1723G>T (p.Glu575Ter)
NM_000448.3(RAG1):c.1758_1760delinsGAATC (p.Asp587fs)
NM_000448.3(RAG1):c.1767C>G (p.Tyr589Ter) rs991089005
NM_000448.3(RAG1):c.1798del (p.Glu600fs) rs2133296385
NM_000448.3(RAG1):c.1864del (p.Ala622fs) rs1564989455
NM_000448.3(RAG1):c.2005G>A (p.Glu669Lys) rs878853004
NM_000448.3(RAG1):c.2018_2691delinsGCG (p.Ala673fs)
NM_000448.3(RAG1):c.2033_2034del (p.Leu678fs)
NM_000448.3(RAG1):c.2065G>T (p.Glu689Ter)
NM_000448.3(RAG1):c.206del (p.Ala69fs)
NM_000448.3(RAG1):c.2143del (p.Val715fs)
NM_000448.3(RAG1):c.2196_2197del (p.Leu732_Cys733insTer)
NM_000448.3(RAG1):c.2199T>A (p.Cys733Ter) rs1850830824
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)
NM_000448.3(RAG1):c.2228del (p.Asn743fs)
NM_000448.3(RAG1):c.2251del (p.Arg751fs)
NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter) rs104894282
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
NM_000448.3(RAG1):c.2332C>T (p.Arg778Trp) rs752020152
NM_000448.3(RAG1):c.2410del (p.Ala804fs)
NM_000448.3(RAG1):c.2434C>T (p.Gln812Ter)
NM_000448.3(RAG1):c.2449G>T (p.Glu817Ter)
NM_000448.3(RAG1):c.2449del (p.Glu817fs)
NM_000448.3(RAG1):c.2475del (p.Glu827fs) rs2133297611
NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer) rs1850837839
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
NM_000448.3(RAG1):c.2557_2560dup (p.Gly854fs)
NM_000448.3(RAG1):c.2615T>A (p.Leu872Ter)
NM_000448.3(RAG1):c.2615T>G (p.Leu872Ter) rs749360497
NM_000448.3(RAG1):c.2627del (p.Glu876fs)
NM_000448.3(RAG1):c.2736_2737del (p.Tyr912_Ser913delinsTer) rs1317208073
NM_000448.3(RAG1):c.2850del (p.Ile950fs) rs2133298263
NM_000448.3(RAG1):c.2877G>A (p.Trp959Ter) rs1850847819
NM_000448.3(RAG1):c.2882_2891del (p.Ser961fs) rs1195475275
NM_000448.3(RAG1):c.2903_2907del (p.Asn968fs)
NM_000448.3(RAG1):c.2918G>A (p.Arg973His)
NM_000448.3(RAG1):c.305_312del (p.Ile102fs)
NM_000448.3(RAG1):c.3074dup (p.Leu1025fs) rs1564990390
NM_000448.3(RAG1):c.336dup (p.Ile113fs)
NM_000448.3(RAG1):c.354del (p.Phe118fs)
NM_000448.3(RAG1):c.360_367del (p.Asp121fs) rs1590701881
NM_000448.3(RAG1):c.404dup (p.Gly135_Lys136insTer)
NM_000448.3(RAG1):c.519del (p.Glu174fs) rs1241698978
NM_000448.3(RAG1):c.539G>A (p.Trp180Ter)
NM_000448.3(RAG1):c.54del (p.Gln19fs)
NM_000448.3(RAG1):c.611_612insT (p.Trp204fs)
NM_000448.3(RAG1):c.612G>A (p.Trp204Ter)
NM_000448.3(RAG1):c.659del (p.Gly220fs)
NM_000448.3(RAG1):c.736_737delinsA (p.Ala246fs)
NM_000448.3(RAG1):c.775del (p.Ser259fs) rs878853031
NM_000448.3(RAG1):c.937del (p.Cys313fs)
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) rs121918568
NM_000448.3(RAG1):c.994C>T (p.Arg332Ter) rs568867325
NM_000494.3(COL17A1):c.418_419del rs773423028
NM_000494.4(COL17A1):c.1571_1572dup (p.Gln525fs) rs2086520075
NM_000494.4(COL17A1):c.1898G>A (p.Gly633Asp) rs121912773
NM_000494.4(COL17A1):c.214C>T (p.Arg72Ter) rs760094345
NM_000494.4(COL17A1):c.2228-3_2235delinsTTG rs1554848576
NM_000494.4(COL17A1):c.2336-1G>T rs1589562891
NM_000494.4(COL17A1):c.2336-2A>G rs1478395810
NM_000494.4(COL17A1):c.2407G>T (p.Gly803Ter) rs752317971
NM_000494.4(COL17A1):c.2564T>G (p.Leu855Ter) rs121912772
NM_000494.4(COL17A1):c.2576dup (p.Gly860fs) rs2086359795
NM_000494.4(COL17A1):c.2840_2844del (p.Leu947fs) rs1564673127
NM_000494.4(COL17A1):c.2861del (p.Gly954fs) rs2134581672
NM_000494.4(COL17A1):c.3067C>T (p.Gln1023Ter) rs121912770
NM_000494.4(COL17A1):c.3686dup (p.Val1231fs)
NM_000494.4(COL17A1):c.3766+1G>A rs2086256572
NM_000494.4(COL17A1):c.3827dup (p.Gly1277fs) rs751058779
NM_000494.4(COL17A1):c.3828_3829insC (p.Gly1277fs) rs2086249404
NM_000494.4(COL17A1):c.3899_3900del (p.Ser1300fs) rs2134563935
NM_000494.4(COL17A1):c.3922del (p.Ser1308fs) rs1064793760
NM_000494.4(COL17A1):c.4041T>G (p.Tyr1347Ter) rs945600680
NM_000494.4(COL17A1):c.4045dup (p.Ala1349fs)
NM_000494.4(COL17A1):c.4050del (p.Ala1351fs) rs886041555
NM_000494.4(COL17A1):c.4156+1G>A rs373469159
NM_000494.4(COL17A1):c.433C>T (p.Arg145Ter) rs121912774
NM_000494.4(COL17A1):c.505C>T (p.Arg169Ter) rs1564684815
NM_000494.4(COL17A1):c.779del (p.Pro260fs) rs1589572214
NM_000505.4(F12):c.894_911dup (p.Gln300_Thr305dup) rs774034606
NM_000505.4(F12):c.971_1018+24del rs1554097246
NM_000505.4(F12):c.983C>A (p.Thr328Lys) rs118204456
NM_000505.4(F12):c.983C>G (p.Thr328Arg) rs118204456
NM_000516.5:c.(?_-424)_(257_?)dup
NM_000516.7(GNAS):c.153del (p.Gly52fs)
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.7(GNAS):c.348del (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.725del (p.Thr242fs) rs1601163749
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000516.7(GNAS):c.860_861del (p.Val287fs)
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) rs2089384365
NM_000526.5(KRT14):c.1123_1125del (p.Glu375del) rs56974573
NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter) rs773920224
NM_000526.5(KRT14):c.1151T>C (p.Leu384Pro) rs59629244
NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg) rs1907401835
NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln) rs1907400034
NM_000526.5(KRT14):c.1231G>T (p.Glu411Ter) rs61664582
NM_000526.5(KRT14):c.1231_1233del (p.Glu411del) rs267607389
NM_000526.5(KRT14):c.1242_1259del (p.Tyr415_Glu420del) rs2144582186
NM_000526.5(KRT14):c.1243T>C (p.Tyr415His) rs58380626
NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys) rs59442925
NM_000526.5(KRT14):c.1246del (p.Arg416fs) rs58357841
NM_000526.5(KRT14):c.1256T>A (p.Leu419Gln) rs57364972
NM_000526.5(KRT14):c.1274+5G>C rs1907395416
NM_000526.5(KRT14):c.17del (p.Arg6fs) rs267607390
NM_000526.5(KRT14):c.313_314del (p.Ala105fs) rs57278315
NM_000526.5(KRT14):c.346A>T (p.Lys116Ter) rs60338701
NM_000526.5(KRT14):c.355A>G (p.Met119Val) rs61263401
NM_000526.5(KRT14):c.356T>C (p.Met119Thr) rs28928893
NM_000526.5(KRT14):c.357G>A (p.Met119Ile) rs57358989
NM_000526.5(KRT14):c.368A>G (p.Asn123Ser) rs60171927
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) rs60399023
NM_000526.5(KRT14):c.374G>A (p.Arg125His) rs58330629
NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp) rs60470268
NM_000526.5(KRT14):c.397G>T (p.Val133Leu) rs61027685
NM_000526.5(KRT14):c.431A>C (p.Glu144Ala) rs57121345
NM_000526.5(KRT14):c.54C>A (p.Cys18Ter) rs60831116
NM_000526.5(KRT14):c.749del (p.Lys250fs) rs267607406
NM_000526.5(KRT14):c.808G>A (p.Val270Met) rs58560979
NM_000526.5(KRT14):c.815T>C (p.Met272Thr) rs61371557
NM_000526.5(KRT14):c.815T>G (p.Met272Arg) rs61371557
NM_000526.5(KRT14):c.915G>A (p.Trp305Ter) rs60090257
NM_000536.4(RAG2):c.1024G>T (p.Gly342Ter)
NM_000536.4(RAG2):c.102del (p.Gly35fs)
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) rs148508754
NM_000536.4(RAG2):c.1050_1060del (p.Cys350_Asp354delinsTer) rs1851062418
NM_000536.4(RAG2):c.1053dup (p.Glu352Ter) rs2133312509
NM_000536.4(RAG2):c.1104_1321del (p.Thr369fs)
NM_000536.4(RAG2):c.1131del (p.Phe378fs)
NM_000536.4(RAG2):c.1142_1143del (p.Asp380_Ser381insTer)
NM_000536.4(RAG2):c.1210G>T (p.Glu404Ter)
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.1257C>G (p.Cys419Trp)
NM_000536.4(RAG2):c.1275_1278dup (p.Ile427fs) rs1470797202
NM_000536.4(RAG2):c.130G>T (p.Gly44Ter) rs1440633758
NM_000536.4(RAG2):c.1329G>C (p.Met443Ile)
NM_000536.4(RAG2):c.1334dup (p.Tyr445Ter)
NM_000536.4(RAG2):c.1348del (p.Asp450fs)
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg) rs1564995627
NM_000536.4(RAG2):c.1403_1404dup (p.Leu469fs) rs2133311139
NM_000536.4(RAG2):c.1403_1406del (p.His468fs) rs786205616
NM_000536.4(RAG2):c.1441C>G (p.His481Asp)
NM_000536.4(RAG2):c.1442A>G (p.His481Arg)
NM_000536.4(RAG2):c.1491_1506A[6]GCCTCCAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTCCAATG[1] (p.Lys503delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuArgGluAlaGluAlaGlyGlySerTer)
NM_000536.4(RAG2):c.171del (p.Lys58fs)
NM_000536.4(RAG2):c.189dup (p.Lys64Ter)
NM_000536.4(RAG2):c.1A>G (p.Met1Val) rs1564997814
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn) rs121918574
NM_000536.4(RAG2):c.243del (p.Gly82fs) rs1851098227
NM_000536.4(RAG2):c.272_278del (p.Tyr91fs)
NM_000536.4(RAG2):c.293del (p.Thr98fs) rs1851096223
NM_000536.4(RAG2):c.358del (p.Val120fs) rs1342428152
NM_000536.4(RAG2):c.361_364del (p.Thr121fs)
NM_000536.4(RAG2):c.385_389del (p.Leu129fs) rs1164927451
NM_000536.4(RAG2):c.3G>A (p.Met1Ile)
NM_000536.4(RAG2):c.479C>A (p.Ser160Ter)
NM_000536.4(RAG2):c.47_57del (p.Gln16fs) rs2133316487
NM_000536.4(RAG2):c.535del (p.Leu179fs) rs2133314424
NM_000536.4(RAG2):c.548dup (p.Leu184fs)
NM_000536.4(RAG2):c.638dup (p.Asn213fs) rs1851080959
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.4(RAG2):c.724del (p.Leu242fs) rs2133313784
NM_000536.4(RAG2):c.724dup (p.Leu242fs) rs2133313784
NM_000536.4(RAG2):c.743del (p.Asn248fs) rs2133313716
NM_000536.4(RAG2):c.770_771del (p.Ser257fs) rs2133313582
NM_000536.4(RAG2):c.826G>A (p.Gly276Ser) rs1851074701
NM_000536.4(RAG2):c.829dup (p.Tyr277fs) rs1851074524
NM_000536.4(RAG2):c.863del (p.Asn288fs) rs755941834
NM_000536.4(RAG2):c.895del (p.Ile299fs) rs2133313100
NM_000536.4(RAG2):c.951G>A (p.Trp317Ter)
NM_000536.4(RAG2):c.951G>T (p.Trp317Cys)
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) rs879541124
NM_000536.4(RAG2):c.95G>A (p.Gly32Glu)
NM_000536.4(RAG2):c.984del (p.Gly330fs)
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer) rs387906561
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000681.4(ADRA2A):c.*427A>G rs553668
NM_000821.7(GGCX):c.1120C>T (p.Gln374Ter) rs121909680
NM_000821.7(GGCX):c.1478G>C (p.Trp493Ser) rs121909679
NM_000821.7(GGCX):c.1609G>T (p.Gly537Ter) rs1691965570
NM_000821.7(GGCX):c.1672G>A (p.Gly558Arg) rs121909678
NM_000821.7(GGCX):c.896T>C (p.Phe299Ser) rs121909677
NM_000899.5(KITLG):c.100A>C (p.Thr34Pro) rs730882157
NM_000899.5(KITLG):c.107A>G (p.Asn36Ser) rs121918653
NM_000899.5(KITLG):c.108T>G (p.Asn36Lys)
NM_000899.5(KITLG):c.98T>C (p.Val33Ala) rs730882156
NM_001005337.3(PKP1):c.1107_1134dup (p.Val379fs)
NM_001005337.3(PKP1):c.1233-2A>G rs1558193923
NM_001005337.3(PKP1):c.1233-2A>T rs1558193923
NM_001005337.3(PKP1):c.2021+1G>A rs1571564381
NM_001005337.3(PKP1):c.889del (p.Arg297fs) rs1571557821
NM_001005498.4(RHBDF2):c.470T>C (p.Ile157Thr) rs387907129
NM_001005498.4(RHBDF2):c.479C>T (p.Pro160Leu) rs387907130
NM_001006657.2(WDR35):c.1210dup (p.Glu404fs) rs1327489348
NM_001014342.3(FLG2):c.1065T>A (p.Tyr355Ter) rs1553219199
NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter) rs886041382
NM_001033053.2(NLRP1):c.2358-?_2528+?del
NM_001039570.3(KREMEN1):c.626T>C (p.Phe209Ser) rs1057524917
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) rs587780088
NM_001071.4(TYMS):c.343C>T (p.Arg115Ter) rs2046518776
NM_001071.4(TYMS):c.480A>T (p.Gln160His) rs894600614
NM_001071.4(TYMS):c.486_487del (p.Arg163fs) rs2144335544
NM_001071.4(TYMS):c.534_535insTG (p.Met179Ter) rs2144335824
NM_001071.4(TYMS):c.556+1G>A rs2144335968
NM_001071.4(TYMS):c.811C>T (p.Arg271Ter) rs1703168604
NM_001080449.3(DNA2):c.143T>C (p.Leu48Pro)
NM_001080449.3(DNA2):c.1711dup (p.Ile571fs)
NM_001080449.3(DNA2):c.2208+2456_2403-18del
NM_001080449.3(DNA2):c.442-768_587+648del
NM_001080449.3(DNA2):c.588-2214A>G
NM_001082486.2(ACD):c.244GAG[1] (p.Glu83del) rs1277350671
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001082486.2(ACD):c.361del (p.Asp121fs) rs1303559181
NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter) rs1555057581
NM_001085458.2(CTNND1):c.1381C>T (p.Arg461Ter)
NM_001085458.2(CTNND1):c.1754del (p.Asn585fs) rs2137277484
NM_001085458.2(CTNND1):c.2098C>T (p.Arg700Ter) rs1277132301
NM_001085458.2(CTNND1):c.2550+1G>A
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001085458.2(CTNND1):c.2638+2T>G
NM_001085458.2(CTNND1):c.566dup (p.Pro190fs)
NM_001085458.2(CTNND1):c.606del (p.Pro203fs) rs1555053981
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs) rs1566366182
NM_001099274.3(TINF2):c.805C>T (p.Gln269Ter) rs387907153
NM_001099274.3(TINF2):c.811C>T (p.Gln271Ter) rs387907154
NM_001099274.3(TINF2):c.815G>A (p.Trp272Ter)
NM_001099274.3(TINF2):c.826del (p.Arg276fs) rs863223324
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) rs121918543
NM_001099274.3(TINF2):c.839del (p.Lys280fs) rs1594551449
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) rs121918545
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001099274.3(TINF2):c.845_848dup (p.Thr284fs)
NM_001099274.3(TINF2):c.849dup (p.Thr284fs) rs199422315
NM_001099287.1(NIPAL4):c.2T>C (p.Met1Thr) rs1581262988
NM_001099287.2(NIPAL4):c.1082del (p.Asn361fs) rs1581273254
NM_001099287.2(NIPAL4):c.221T>A (p.Val74Asp) rs1581265715
NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter) rs199422216
NM_001099287.2(NIPAL4):c.284G>A (p.Gly95Glu) rs900769357
NM_001099287.2(NIPAL4):c.348A>C (p.Glu116Asp) rs371608909
NM_001099287.2(NIPAL4):c.369C>G (p.Tyr123Ter) rs777992589
NM_001099287.2(NIPAL4):c.37+5G>C rs1452328130
NM_001099287.2(NIPAL4):c.425+1G>A rs1581269752
NM_001099287.2(NIPAL4):c.426-3del rs1581271844
NM_001099287.2(NIPAL4):c.437C>T (p.Ser146Phe) rs1581271869
NM_001099287.2(NIPAL4):c.509C>G (p.Thr170Arg) rs1581272003
NM_001099287.2(NIPAL4):c.520_526del (p.Ile174fs) rs1561831443
NM_001099287.2(NIPAL4):c.586+1G>A rs1561831582
NM_001099287.2(NIPAL4):c.650C>T (p.Pro217Leu) rs1027052344
NM_001099287.2(NIPAL4):c.753C>G (p.Asn251Lys) rs1581272834
NM_001099287.2(NIPAL4):c.828C>A (p.Ser276Arg) rs886060339
NM_001099287.2(NIPAL4):c.897C>A (p.Tyr299Ter) rs373501601
NM_001099287.2(NIPAL4):c.97del (p.Leu33fs) rs1581265561
NM_001099857.5(IKBKG):c.1049dup (p.Ala351fs) rs2148385141
NM_001099857.5(IKBKG):c.1110dup (p.Ala371fs) rs1569556615
NM_001099857.5(IKBKG):c.1117+1G>A rs2071161458
NM_001099857.5(IKBKG):c.1117+5G>C rs1557236796
NM_001099857.5(IKBKG):c.1166_1178dup (p.Asp394fs) rs2071167272
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) rs782178147
NM_001099857.5(IKBKG):c.1171G>T (p.Glu391Ter) rs137853324
NM_001099857.5(IKBKG):c.1207C>T (p.Gln403Ter) rs137853329
NM_001099857.5(IKBKG):c.120_129dup (p.Glu44fs) rs2070949441
NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val) rs137853327
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val) rs137853322
NM_001099857.5(IKBKG):c.1249T>C (p.Cys417Arg) rs137853325
NM_001099857.5(IKBKG):c.1250G>T (p.Cys417Phe) rs137853326
NM_001099857.5(IKBKG):c.1259A>G (p.Ter420Trp) rs137853321
NM_001099857.5(IKBKG):c.184C>T (p.Arg62Ter) rs137853323
NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter) rs2071063100
NM_001099857.5(IKBKG):c.373del (p.Val125fs)
NM_001099857.5(IKBKG):c.458T>G (p.Leu153Arg) rs137853328
NM_001099857.5(IKBKG):c.518+866C>T rs2071101767
NM_001099857.5(IKBKG):c.519-3_519dup rs1557236445
NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter) rs2071133474
NM_001099857.5(IKBKG):c.768+5G>A rs1569556603
NM_001099857.5(IKBKG):c.863C>G (p.Ala288Gly) rs137853330
NM_001102416.3(KNG1):c.1136T>A (p.Met379Lys) rs765933558
NM_001102416.3(KNG1):c.1720C>G (p.Pro574Ala) rs1369253342
NM_001102469.2(LIPN):c.399_400del (p.Glu133fs) rs759880018
NM_001102564.3(IFT43):c.1A>G (p.Met1Val) rs387907107
NM_001110.4(ADAM10):c.1264del (p.Thr422fs) rs483352915
NM_001110.4(ADAM10):c.1511G>A (p.Ser504Asn) rs483352913
NM_001110.4(ADAM10):c.1571G>A (p.Cys524Tyr) rs483352916
NM_001110.4(ADAM10):c.429T>A (p.Tyr143Ter) rs483352914
NM_001110.4(ADAM10):c.[415C>T;424_425insCAGAG]
NM_001110219.3(GJB6):c.110T>A (p.Val37Glu) rs104894416
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001111.5(ADAR):c.1000del (p.Val333_Leu334insTer)
NM_001111.5(ADAR):c.1011_1012del (p.Met337fs)
NM_001111.5(ADAR):c.1096_1097del (p.Lys366fs)
NM_001111.5(ADAR):c.133G>T (p.Glu45Ter)
NM_001111.5(ADAR):c.1420C>T (p.Arg474Ter) rs121912421
NM_001111.5(ADAR):c.1472C>G (p.Ser491Ter)
NM_001111.5(ADAR):c.1576C>T (p.Gln526Ter)
NM_001111.5(ADAR):c.1740dup (p.Ser581fs)
NM_001111.5(ADAR):c.2077C>T (p.Gln693Ter) rs121912423
NM_001111.5(ADAR):c.2128_2131dup (p.Asn711fs) rs2101619771
NM_001111.5(ADAR):c.2309del (p.Pro770fs) rs2101589045
NM_001111.5(ADAR):c.2344C>T (p.Gln782Ter) rs2101588892
NM_001111.5(ADAR):c.2563_2564del (p.Leu855fs)
NM_001111.5(ADAR):c.2564dup (p.Thr856fs) rs1571065237
NM_001111.5(ADAR):c.2571_2572del (p.Asn857fs)
NM_001111.5(ADAR):c.2583del (p.Ser862fs)
NM_001111.5(ADAR):c.271del (p.Arg91fs)
NM_001111.5(ADAR):c.2768T>C (p.Leu923Pro) rs28936680
NM_001111.5(ADAR):c.2854A>T (p.Lys952Ter) rs121912422
NM_001111.5(ADAR):c.2929_2939dup (p.Met981fs) rs2101576292
NM_001111.5(ADAR):c.296dup (p.Arg100fs)
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3040G>T (p.Glu1014Ter)
NM_001111.5(ADAR):c.3125G>A (p.Arg1042His)
NM_001111.5(ADAR):c.3232C>T (p.Arg1078Cys)
NM_001111.5(ADAR):c.3233G>T (p.Arg1078Leu)
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111.5(ADAR):c.3346del (p.Arg1116fs) rs1557863734
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) rs1571046959
NM_001111.5(ADAR):c.3402T>A (p.Tyr1134Ter)
NM_001111.5(ADAR):c.344del (p.Gly115fs) rs2101644365
NM_001111.5(ADAR):c.391C>T (p.Gln131Ter)
NM_001111.5(ADAR):c.439del (p.Leu147fs)
NM_001111.5(ADAR):c.520C>T (p.Arg174Ter)
NM_001111.5(ADAR):c.638del (p.Pro213fs) rs1571110353
NM_001111.5(ADAR):c.649dup (p.Ser217fs)
NM_001111.5(ADAR):c.763C>T (p.Gln255Ter) rs2101641985
NM_001111.5(ADAR):c.85C>T (p.Gln29Ter) rs2101645916
NM_001111.5(ADAR):c.929dup (p.Ser311fs) rs2101641171
NM_001111.5(ADAR):c.941_942del (p.Ser314fs) rs387906541
NM_001111.5(ADAR):c.982C>T (p.Arg328Ter) rs1322905273
NM_001114980.2(TP63):c.16A>C (p.Asn6His) rs113993963
NM_001122764.3(PPOX):c.1043A>G (p.Tyr348Cys)
NM_001122764.3(PPOX):c.1046A>C (p.Asp349Ala) rs28936676
NM_001122764.3(PPOX):c.1241_1245del (p.Leu414fs) rs2101902523
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) rs121918324
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) rs786204784
NM_001122764.3(PPOX):c.338G>C (p.Arg113Thr)
NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro)
NM_001122764.3(PPOX):c.420del (p.Glu141fs)
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) rs121918325
NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu)
NM_001122764.3(PPOX):c.538_539del (p.Ile180fs) rs1571357779
NM_001122764.3(PPOX):c.59A>C (p.His20Pro) rs121918326
NM_001122764.3(PPOX):c.657_658insAAGGCCAGCGCC (p.Ala219_Leu220insLysAlaSerAla) rs2101876868
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) rs121918323
NM_001122764.3(PPOX):c.745dup (p.Val249fs) rs1571369150
NM_001122764.3(PPOX):c.808G>T (p.Val270Leu)
NM_001122955.4(BSCL2):c.1006-2A>G rs879254029
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter) rs137852974
NM_001122955.4(BSCL2):c.384_385delinsGGA (p.Ser128fs) rs786205068
NM_001122955.4(BSCL2):c.402C>G (p.Tyr134Ter) rs557044760
NM_001122955.4(BSCL2):c.404+1G>T rs1565152616
NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs) rs786205069
NM_001122955.4(BSCL2):c.507_508del (p.Tyr170fs) rs786205070
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) rs587777608
NM_001122955.4(BSCL2):c.538G>T (p.Glu180Ter) rs587777607
NM_001122955.4(BSCL2):c.630+1G>A rs1945400235
NM_001122955.4(BSCL2):c.759_760del (p.Asn254fs) rs1565144681
NM_001122955.4(BSCL2):c.766-2A>G rs1013079991
NM_001122955.4(BSCL2):c.828del (p.Tyr277fs) rs758843908
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs) rs1064797076
NM_001122955.4(BSCL2):c.863+5G>A rs786205072
NM_001122955.4(BSCL2):c.864-3C>G rs786205073
NM_001122955.4(BSCL2):c.942dup (p.Leu315fs) rs1554983076
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_001127.4(AP1B1):c.1263C>A (p.Tyr421Ter) rs2147978539
NM_001127.4(AP1B1):c.1852C>T (p.Gln618Ter) rs1334834057
NM_001127.4(AP1B1):c.2335del (p.Leu779fs) rs1602683532
NM_001127.4(AP1B1):c.2374G>T (p.Glu792Ter) rs780548317
NM_001127.4(AP1B1):c.2677C>T (p.Gln893Ter)
NM_001127.4(AP1B1):c.38-1G>A rs1602761438
NM_001127.4(AP1B1):c.430T>C (p.Cys144Arg) rs1602749299
NM_001127.4(AP1B1):c.668T>C (p.Leu223Pro) rs2147995205
NM_001127198.5(TMC6):c.1053_1056del (p.Phe351fs)
NM_001127198.5(TMC6):c.1146dup (p.Val383fs) rs1567995497
NM_001127198.5(TMC6):c.115C>T (p.Gln39Ter)
NM_001127198.5(TMC6):c.1162del (p.Asp388fs)
NM_001127198.5(TMC6):c.1325dup (p.Thr444fs) rs1555655146
NM_001127198.5(TMC6):c.1354del (p.Val452fs)
NM_001127198.5(TMC6):c.1698del (p.Phe566fs)
NM_001127198.5(TMC6):c.1942_1943del (p.Met648fs) rs1458008918
NM_001127198.5(TMC6):c.2033C>A (p.Ser678Ter) rs749657465
NM_001127198.5(TMC6):c.2211C>A (p.Tyr737Ter) rs758514260
NM_001127198.5(TMC6):c.2266C>T (p.Gln756Ter)
NM_001127198.5(TMC6):c.306C>A (p.Tyr102Ter) rs371786754
NM_001127198.5(TMC6):c.711_715del (p.Ile237fs) rs2145350631
NM_001127198.5(TMC6):c.748_1082+56del rs1567997496
NM_001127198.5(TMC6):c.846_855dup (p.Pro286fs)
NM_001127198.5(TMC6):c.892-2A>T rs769471844
NM_001127198.5(TMC6):c.967del (p.Leu323fs) rs1392702424
NM_001128203.2(PLAAT3):c.16-4823_118+167del
NM_001128203.2(PLAAT3):c.286dup (p.Ala96fs)
NM_001128203.2(PLAAT3):c.339C>A (p.Cys113Ter)
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_001135998.3(NDUFB11):c.372del (p.Arg124fs) rs876657384
NM_001136032.3(KLK11):c.52G>A (p.Gly18Arg)
NM_001136032.3(KLK11):c.53G>A (p.Gly18Glu)
NM_001136191.3(KANK2):c.2009C>T (p.Ala670Val) rs606231303
NM_001139.3(ALOX12B):c.1015C>G (p.Pro339Ala) rs1977158385
NM_001139.3(ALOX12B):c.1018del (p.Leu340fs) rs1285636957
NM_001139.3(ALOX12B):c.1025T>C (p.Leu342Pro) rs1202860455
NM_001139.3(ALOX12B):c.1057C>A (p.Pro353Thr) rs1977157245
NM_001139.3(ALOX12B):c.1071+1G>C rs1598180319
NM_001139.3(ALOX12B):c.1071+1dup rs1977156997
NM_001139.3(ALOX12B):c.1078C>G (p.Gln360Glu) rs1977105578
NM_001139.3(ALOX12B):c.1127G>A (p.Trp376Ter) rs1977104461
NM_001139.3(ALOX12B):c.1211T>G (p.Leu404Arg) rs1977100621
NM_001139.3(ALOX12B):c.1219G>A (p.Glu407Lys) rs1977100213
NM_001139.3(ALOX12B):c.1258T>G (p.Cys420Gly) rs1598178838
NM_001139.3(ALOX12B):c.1261C>T (p.His421Tyr) rs1977099347
NM_001139.3(ALOX12B):c.1277T>C (p.Leu426Pro) rs137853023
NM_001139.3(ALOX12B):c.1309A>T (p.Ile437Phe) rs1977091512
NM_001139.3(ALOX12B):c.130_131del (p.Asp44fs) rs1978304609
NM_001139.3(ALOX12B):c.1333CTC[1] (p.Leu446del) rs1977090006
NM_001139.3(ALOX12B):c.1349G>A (p.Gly450Glu) rs772257172
NM_001139.3(ALOX12B):c.1350del (p.Leu451fs) rs746723399
NM_001139.3(ALOX12B):c.1350dup (p.Leu451fs) rs746723399
NM_001139.3(ALOX12B):c.1369T>C (p.Ser457Pro) rs1977081175
NM_001139.3(ALOX12B):c.1385G>A (p.Gly462Asp) rs774958790
NM_001139.3(ALOX12B):c.1389del (p.Phe463fs) rs387906349
NM_001139.3(ALOX12B):c.1498G>C (p.Asp500His) rs1064796312
NM_001139.3(ALOX12B):c.149_353del (p.Val50fs)
NM_001139.3(ALOX12B):c.1533-1G>T rs1977066082
NM_001139.3(ALOX12B):c.1594G>A (p.Glu532Lys) rs768093512
NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met) rs962267153
NM_001139.3(ALOX12B):c.1613A>C (p.Gln538Pro) rs1977062849
NM_001139.3(ALOX12B):c.1625_1626del (p.Lys542fs) rs745366046
NM_001139.3(ALOX12B):c.1630T>C (p.Cys544Arg) rs1364754878
NM_001139.3(ALOX12B):c.1634T>G (p.Leu545Arg) rs1977062403
NM_001139.3(ALOX12B):c.1654+1G>A rs1977061578
NM_001139.3(ALOX12B):c.1655-7C>A rs201543289
NM_001139.3(ALOX12B):c.1669_1681del (p.Arg558fs) rs1977028665
NM_001139.3(ALOX12B):c.1676C>T (p.Thr559Ile) rs1977028854
NM_001139.3(ALOX12B):c.1693C>T (p.Arg565Ter)
NM_001139.3(ALOX12B):c.1694G>C (p.Arg565Pro) rs1567980597
NM_001139.3(ALOX12B):c.1732C>T (p.His578Tyr) rs1977027733
NM_001139.3(ALOX12B):c.1734C>A (p.His578Gln) rs137853024
NM_001139.3(ALOX12B):c.1742T>G (p.Val581Gly) rs1977027551
NM_001139.3(ALOX12B):c.1797G>T (p.Met599Ile) rs1977018643
NM_001139.3(ALOX12B):c.1821G>C (p.Lys607Asn) rs1977018125
NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln) rs780420901
NM_001139.3(ALOX12B):c.1861G>T (p.Asp621Tyr) rs1977016973
NM_001139.3(ALOX12B):c.1871C>T (p.Thr624Ile) rs1977016836
NM_001139.3(ALOX12B):c.1926+2T>G rs1977016035
NM_001139.3(ALOX12B):c.1937dup (p.His647fs) rs1977011690
NM_001139.3(ALOX12B):c.195_220del (p.Ile66fs) rs1978297341
NM_001139.3(ALOX12B):c.1963G>A (p.Glu655Lys) rs1977010880
NM_001139.3(ALOX12B):c.1977del (p.Arg660fs) rs1230917852
NM_001139.3(ALOX12B):c.2000A>C (p.Gln667Pro) rs1977009717
NM_001139.3(ALOX12B):c.2005_2037dup (p.Leu669_Arg679dup) rs1977008747
NM_001139.3(ALOX12B):c.2012del (p.Gln671fs) rs1977009324
NM_001139.3(ALOX12B):c.2021_2022dup (p.Asp675fs) rs1977009175
NM_001139.3(ALOX12B):c.2035C>A (p.Arg679Ser) rs1977008879
NM_001139.3(ALOX12B):c.2036G>A (p.Arg679His) rs397514528
NM_001139.3(ALOX12B):c.2036G>T (p.Arg679Leu) rs397514528
NM_001139.3(ALOX12B):c.2041A>T (p.Lys681Ter) rs1977008620
NM_001139.3(ALOX12B):c.2060A>G (p.Tyr687Cys) rs1482844053
NM_001139.3(ALOX12B):c.2064C>G (p.Tyr688Ter) rs1977007859
NM_001139.3(ALOX12B):c.208_211dup (p.Lys71fs) rs1978297429
NM_001139.3(ALOX12B):c.2094C>A (p.Ser698Arg) rs1977007343
NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs) rs1567985261
NM_001139.3(ALOX12B):c.297C>A (p.Phe99Leu) rs1978296717
NM_001139.3(ALOX12B):c.307C>T (p.Gln103Ter) rs1978296625
NM_001139.3(ALOX12B):c.324C>G (p.Tyr108Ter)
NM_001139.3(ALOX12B):c.325G>T (p.Glu109Ter) rs536446862
NM_001139.3(ALOX12B):c.353-1G>A rs1598181810
NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn) rs397514530
NM_001139.3(ALOX12B):c.416_417del (p.Ala139fs) rs1977208852
NM_001139.3(ALOX12B):c.435-2A>G rs1598181642
NM_001139.3(ALOX12B):c.467_470dup (p.His158fs) rs780867565
NM_001139.3(ALOX12B):c.47C>G (p.Ser16Trp) rs147784568
NM_001139.3(ALOX12B):c.527+1G>A rs1356373737
NM_001139.3(ALOX12B):c.527+2T>G rs1555643304
NM_001139.3(ALOX12B):c.58G>T (p.Asp20Tyr) rs1978305028
NM_001139.3(ALOX12B):c.632_633del (p.Phe211fs) rs1977196635
NM_001139.3(ALOX12B):c.67T>C (p.Ser23Pro) rs1978304974
NM_001139.3(ALOX12B):c.698G>A (p.Trp233Ter) rs1977185603
NM_001139.3(ALOX12B):c.734_745del (p.Gly245_Ser248del) rs1977184377
NM_001139.3(ALOX12B):c.769C>G (p.His257Asp) rs1233776328
NM_001139.3(ALOX12B):c.771_772del (p.His257fs) rs1977172596
NM_001139.3(ALOX12B):c.786CTT[1] (p.Phe264del) rs1302782570
NM_001139.3(ALOX12B):c.793G>A (p.Gly265Arg) rs1977171852
NM_001139.3(ALOX12B):c.814G>T (p.Val272Phe) rs1308351316
NM_001139.3(ALOX12B):c.845delinsAA (p.Arg282fs) rs1977170208
NM_001139.3(ALOX12B):c.864del (p.Val289fs) rs1977169495
NM_001139.3(ALOX12B):c.893T>C (p.Leu298Pro) rs1977168456
NM_001139.3(ALOX12B):c.928-1G>C rs1977161156
NM_001139.3(ALOX12B):c.938_941dup (p.Ala316fs) rs1977160664
NM_001142730.3(KCTD1):c.1882C>T (p.Pro628Ser) rs878853125
NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu) rs587776998
NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His) rs587776999
NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg) rs587776999
NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu) rs587776999
NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro) rs587777001
NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln) rs587777000
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp) rs587777003
NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu) rs878853124
NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro) rs587777002
NM_001143992.2(WRAP53):c.1118del (p.Leu373fs) rs1597422298
NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr) rs281865549
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu) rs281865547
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln) rs786201037
NM_001184.4(ATR):c.6431A>G (p.Gln2144Arg) rs387906797
NM_001218.5(CA12):c.363C>A (p.His121Gln) rs775067652
NM_001218.5(CA12):c.859_860insACCT (p.Thr287fs) rs879253800
NM_001242908.2(RSPO1):c.-288-413_94+1957del
NM_001242908.2(RSPO1):c.108dup (p.Ser37Glufs*9) rs2148163144
NM_001261826.3(AP3D1):c.3565_3566del (p.Val1189fs) rs879255646
NM_001264.5(CDSN):c.164_167dup (p.Thr57fs) rs606231274
NM_001264.5(CDSN):c.424G>T (p.Gly142Ter) rs606231275
NM_001264.5(CDSN):c.746del (p.Gly249fs) rs672601343
NM_001271893.4(TWIST2):c.168del (p.Ser57fs) rs1574742341
NM_001271893.4(TWIST2):c.193C>T (p.Gln65Ter) rs387906974
NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln) rs1553565140
NM_001271893.4(TWIST2):c.224A>C (p.Glu75Ala) rs1553565143
NM_001271893.4(TWIST2):c.229_234dup (p.Gln77_Arg78dup) rs869320750
NM_001282225.2(ADA2):c.1040del (p.Asp347fs) rs2062064773
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser) rs777618863
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) rs202134424
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) rs200930463
NM_001282225.2(ADA2):c.144del (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.144dup (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.631TTC[1] (p.Phe212del) rs2123699776
NM_001283.5(AP1S1):c.364dup (p.Asp122fs) rs767358930
NM_001283009.2(RTEL1):c.1001_1014del (p.Leu334fs) rs1601133145
NM_001283009.2(RTEL1):c.102+2T>C rs1555899111
NM_001283009.2(RTEL1):c.1103C>A (p.Ser368Ter)
NM_001283009.2(RTEL1):c.1111C>T (p.Gln371Ter)
NM_001283009.2(RTEL1):c.1120C>T (p.Gln374Ter)
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.1194del (p.Ile398fs) rs2145411193
NM_001283009.2(RTEL1):c.1216del (p.Glu406fs) rs2145411302
NM_001283009.2(RTEL1):c.1236_1266+47del rs1568703403
NM_001283009.2(RTEL1):c.1244dup (p.Ala417fs) rs2145411399
NM_001283009.2(RTEL1):c.1263T>A (p.Tyr421Ter) rs2145411479
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)
NM_001283009.2(RTEL1):c.1367G>A (p.Trp456Ter)
NM_001283009.2(RTEL1):c.1379C>T (p.Pro460Leu)
NM_001283009.2(RTEL1):c.1419dup (p.Ser474fs)
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_001283009.2(RTEL1):c.1458del (p.Ser487fs) rs2090629495
NM_001283009.2(RTEL1):c.1603G>T (p.Glu535Ter) rs1367858373
NM_001283009.2(RTEL1):c.1606G>T (p.Glu536Ter) rs2090639016
NM_001283009.2(RTEL1):c.1682_1686del (p.Pro561fs)
NM_001283009.2(RTEL1):c.1699G>T (p.Glu567Ter)
NM_001283009.2(RTEL1):c.1702A>T (p.Lys568Ter)
NM_001283009.2(RTEL1):c.1773G>T (p.Glu591Asp) rs398123051
NM_001283009.2(RTEL1):c.1778_1781dup (p.Ser594fs)
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)
NM_001283009.2(RTEL1):c.1861G>A (p.Ala621Thr) rs398123052
NM_001283009.2(RTEL1):c.1890dup (p.Leu631fs) rs2145427564
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter) rs368311594
NM_001283009.2(RTEL1):c.1910del (p.Asn637fs)
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs) rs1555811742
NM_001283009.2(RTEL1):c.2005C>T (p.Gln669Ter) rs1555811762
NM_001283009.2(RTEL1):c.2038C>T (p.Gln680Ter) rs2090682958
NM_001283009.2(RTEL1):c.2045G>A (p.Trp682Ter)
NM_001283009.2(RTEL1):c.2046G>A (p.Trp682Ter)
NM_001283009.2(RTEL1):c.2080del (p.Ala694fs)
NM_001283009.2(RTEL1):c.2097C>G (p.Ile699Met) rs398123048
NM_001283009.2(RTEL1):c.2098del (p.Arg700fs) rs2090684427
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2197_2198del (p.Arg733fs)
NM_001283009.2(RTEL1):c.2200del (p.Val734fs)
NM_001283009.2(RTEL1):c.2216G>T (p.Gly739Val) rs398123016
NM_001283009.2(RTEL1):c.2219_2227del (p.His740_Ile742del) rs863225053
NM_001283009.2(RTEL1):c.2223del (p.Ile742fs) rs2090699166
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter) rs2145430878
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_001283009.2(RTEL1):c.2239C>T (p.Gln747Ter) rs2145430921
NM_001283009.2(RTEL1):c.2270del (p.Pro757fs) rs2145431569
NM_001283009.2(RTEL1):c.2287dup (p.Ala763fs)
NM_001283009.2(RTEL1):c.2295del (p.Ser767fs)
NM_001283009.2(RTEL1):c.2387del (p.Val796fs) rs2145432198
NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter)
NM_001283009.2(RTEL1):c.2413+1G>C rs776744306
NM_001283009.2(RTEL1):c.2461G>T (p.Glu821Ter) rs2090722556
NM_001283009.2(RTEL1):c.2468del (p.Glu823fs)
NM_001283009.2(RTEL1):c.2485C>T (p.Gln829Ter) rs1278121916
NM_001283009.2(RTEL1):c.2554C>T (p.Gln852Ter) rs2145434954
NM_001283009.2(RTEL1):c.2575_2576del (p.Leu859fs)
NM_001283009.2(RTEL1):c.2584_2593del (p.Leu862fs) rs2145439154
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs) rs752833281
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs) rs1555812480
NM_001283009.2(RTEL1):c.2653G>T (p.Glu885Ter) rs2090784564
NM_001283009.2(RTEL1):c.2671_2686del (p.Ala891fs) rs2145445706
NM_001283009.2(RTEL1):c.2713C>T (p.Gln905Ter)
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter) rs866637461
NM_001283009.2(RTEL1):c.2749C>T (p.Gln917Ter)
NM_001283009.2(RTEL1):c.2750del (p.Gln917fs)
NM_001283009.2(RTEL1):c.2783_2784del (p.Phe928fs)
NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.2818del (p.Ala940fs)
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter) rs906116592
NM_001283009.2(RTEL1):c.2850del (p.Gly951fs) rs2090792717
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter) rs1555813144
NM_001283009.2(RTEL1):c.2887C>T (p.Gln963Ter)
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.2924del (p.Gly975fs)
NM_001283009.2(RTEL1):c.2932_2944del (p.Tyr978fs) rs2090805858
NM_001283009.2(RTEL1):c.2933_2936dup (p.Pro980fs)
NM_001283009.2(RTEL1):c.2940_2956del (p.Glu981fs)
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs) rs1285014916
NM_001283009.2(RTEL1):c.2988del (p.Thr997fs)
NM_001283009.2(RTEL1):c.3043C>T (p.Gln1015Ter) rs777109448
NM_001283009.2(RTEL1):c.3058G>T (p.Glu1020Ter) rs771746222
NM_001283009.2(RTEL1):c.3074_3096del (p.Gly1025fs) rs2145471381
NM_001283009.2(RTEL1):c.3124C>T (p.Gln1042Ter) rs929898540
NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs) rs1555814207
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter) rs2090929102
NM_001283009.2(RTEL1):c.3289del (p.Ala1097fs) rs2090933372
NM_001283009.2(RTEL1):c.329_332del (p.Ile110fs) rs2146150691
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs) rs1555814334
NM_001283009.2(RTEL1):c.3370del (p.His1124fs) rs1555814400
NM_001283009.2(RTEL1):c.3371A>C (p.His1124Pro) rs786205702
NM_001283009.2(RTEL1):c.3389dup (p.Thr1131fs) rs2145477500
NM_001283009.2(RTEL1):c.3514G>T (p.Glu1172Ter)
NM_001283009.2(RTEL1):c.3525del (p.Lys1176fs)
NM_001283009.2(RTEL1):c.3553del (p.Arg1186fs) rs1363124795
NM_001283009.2(RTEL1):c.3559_3562del (p.Gln1187fs)
NM_001283009.2(RTEL1):c.3610C>T (p.Gln1204Ter)
NM_001283009.2(RTEL1):c.361C>T (p.Gln121Ter) rs2090027846
NM_001283009.2(RTEL1):c.3672_3673del (p.Ile1225fs) rs2145480213
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs) rs1363658406
NM_001283009.2(RTEL1):c.3730_3731del (p.Cys1244fs) rs1316931773
NM_001283009.2(RTEL1):c.3775_3776del (p.Ala1259fs) rs2145480909
NM_001283009.2(RTEL1):c.3776_3779del (p.Ala1259fs) rs764058481
NM_001283009.2(RTEL1):c.3787C>T (p.Gln1263Ter) rs2145480992
NM_001283009.2(RTEL1):c.440_443dup (p.Glu149fs) rs2146153920
NM_001283009.2(RTEL1):c.46C>T (p.Gln16Ter) rs2146141455
NM_001283009.2(RTEL1):c.475C>T (p.Gln159Ter) rs2090043175
NM_001283009.2(RTEL1):c.4_46dup (p.Gln16fs) rs2146141304
NM_001283009.2(RTEL1):c.535G>T (p.Glu179Ter) rs1555899932
NM_001283009.2(RTEL1):c.602del (p.Gly201fs) rs863223336
NM_001283009.2(RTEL1):c.61C>T (p.Gln21Ter)
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.72C>G (p.Tyr24Ter)
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_001283009.2(RTEL1):c.836_837del (p.Ile279fs) rs2146197831
NM_001283009.2(RTEL1):c.850G>T (p.Glu284Ter)
NM_001283009.2(RTEL1):c.897del (p.Phe299fs) rs1555901832
NM_001283009.2(RTEL1):c.984del (p.Ile329fs) rs2146211234
NM_001283009.2(RTEL1):c.9del (p.Lys3_Ile4insTer) rs2146141332
NM_001304718.2(PTEN):c.-541-5533del rs2132232095
NM_001312673.2(PCYT1A):c.424G>A (p.Val142Met)
NM_001312673.2(PCYT1A):c.835GAG[1] (p.Glu280del) rs771425372
NM_001312673.2(PCYT1A):c.996del (p.Ser333fs) rs757164118
NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln) rs60687604
NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys) rs121909129
NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp) rs121909130
NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp) rs61091894
NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu) rs60612575
NM_001320752.2(STS):c.1007C>T (p.Ser336Leu) rs137853167
NM_001320752.2(STS):c.1099T>A (p.Trp367Arg) rs137853165
NM_001320752.2(STS):c.1100G>C (p.Trp367Ser) rs137853168
NM_001320752.2(STS):c.1241+1G>T rs1601748137
NM_001320752.2(STS):c.1316A>G (p.His439Arg) rs137853169
NM_001320752.2(STS):c.1322G>A (p.Cys441Tyr) rs137853166
NM_001320752.2(STS):c.272G>A (p.Trp91Ter) rs1463414987
NM_001320752.2(STS):c.806+1G>A
NM_001321142.2(CIDEC):c.556G>T (p.Glu186Ter) rs587776968
NM_001323.4(CST6):c.361C>T (p.Gln121Ter) rs1590674994
NM_001330360.2(POLA1):c.1393-354A>G rs869312979
NM_001354604.2(MITF):c.1031+1G>A rs1559749017
NM_001354604.2(MITF):c.1061T>G (p.Leu354Ter) rs2107537021
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter) rs1057517966
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter) rs2066482593
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) rs1464157509
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_001354604.2(MITF):c.367del (p.Leu123fs)
NM_001354604.2(MITF):c.440T>G (p.Leu147Ter)
NM_001354604.2(MITF):c.643_644dup (p.Ser216fs)
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.709dup (p.Tyr237fs) rs2065962813
NM_001354604.2(MITF):c.764T>A (p.Leu255Ter)
NM_001354604.2(MITF):c.815del (p.Pro272fs)
NM_001354604.2(MITF):c.951C>G (p.Asn317Lys) rs104893745
NM_001354604.2(MITF):c.956-1G>A rs1057519327
NM_001354604.2(MITF):c.957T>G (p.Ile319Met)
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala) rs137854492
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) rs1057520719
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) rs199422252
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.1259+1G>A rs1569558616
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.16+592C>G rs1603429348
NM_001363.5(DKC1):c.189T>G (p.Asn63Lys)
NM_001363.5(DKC1):c.203A>G (p.His68Arg) rs1557264102
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) rs121912294
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.5_7del (p.Ala2del)
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) rs137854491
NM_001366385.1(CARD14):c.349+1G>A rs886041402
NM_001366385.1(CARD14):c.349+5G>A rs587777763
NM_001366385.1(CARD14):c.409GAG[1] (p.Glu138del) rs1390003312
NM_001366385.1(CARD14):c.424G>A (p.Glu142Lys) rs281875212
NM_001366385.1(CARD14):c.425A>G (p.Glu142Gly) rs281875213
NM_001366385.1(CARD14):c.467T>C (p.Leu156Pro) rs387907240
NM_001374623.1(PNPLA1):c.1300del (p.Ala434fs) rs753687060
NM_001374623.1(PNPLA1):c.157T>C (p.Ser53Pro) rs1582046125
NM_001374623.1(PNPLA1):c.158C>G (p.Ser53Trp) rs1207879599
NM_001374623.1(PNPLA1):c.176C>T (p.Ala59Val) rs1561853847
NM_001374623.1(PNPLA1):c.301A>G (p.Arg101Gly)
NM_001374623.1(PNPLA1):c.362A>C (p.His121Pro) rs1407871103
NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu) rs200806519
NM_001374623.1(PNPLA1):c.391G>T (p.Glu131Ter) rs1561864453
NM_001374623.1(PNPLA1):c.417_418delinsTC (p.Ser140Pro)
NM_001374623.1(PNPLA1):c.421A>G (p.Lys141Glu) rs1582078740
NM_001374623.1(PNPLA1):c.448T>C (p.Cys150Arg) rs1582081682
NM_001374623.1(PNPLA1):c.646T>C (p.Cys216Arg) rs1554138062
NM_001374623.1(PNPLA1):c.727TAC[2] (p.Tyr245del) rs1582086407
NM_001374623.1(PNPLA1):c.736C>T (p.Arg246Ter)
NM_001374623.1(PNPLA1):c.92C>A (p.Ala31Asp) rs1231123861
NM_001374736.1(DST):c.12598del (p.Arg4200fs)
NM_001374736.1(DST):c.12720_12724del (p.Tyr4240_Lys4242delinsTer)
NM_001374736.1(DST):c.13149G>A (p.Trp4383Ter)
NM_001374736.1(DST):c.13707_13708insTAATATAAATAGAATAAAATAT (p.Thr4570Ter) rs2152610983
NM_001374736.1(DST):c.14057G>A (p.Trp4686Ter) rs2097544341
NM_001374736.1(DST):c.14177T>A (p.Leu4726Ter)
NM_001374736.1(DST):c.14217G>A (p.Trp4739Ter) rs2097534211
NM_001374736.1(DST):c.15216G>A (p.Trp5072Ter) rs893650971
NM_001374736.1(DST):c.15242dup (p.Asn5081fs)
NM_001374736.1(DST):c.15360del (p.Gly5121fs) rs2152556195
NM_001374736.1(DST):c.16009C>T (p.Gln5337Ter)
NM_001374736.1(DST):c.16174C>T (p.Arg5392Ter) rs755738894
NM_001374736.1(DST):c.16435C>T (p.Arg5479Ter) rs2152554942
NM_001374736.1(DST):c.16536del (p.Glu5513fs)
NM_001374736.1(DST):c.16780C>T (p.Arg5594Ter) rs1198127456
NM_001374736.1(DST):c.16858del (p.Val5620fs) rs1584328172
NM_001374736.1(DST):c.16932del (p.Glu5645fs)
NM_001374736.1(DST):c.17053C>T (p.Gln5685Ter)
NM_001374736.1(DST):c.17251C>T (p.Gln5751Ter) rs2096867388
NM_001374736.1(DST):c.17452C>T (p.Gln5818Ter)
NM_001374736.1(DST):c.17779C>T (p.Gln5927Ter)
NM_001374736.1(DST):c.18008G>A (p.Trp6003Ter) rs2096799052
NM_001374736.1(DST):c.18061C>T (p.Arg6021Ter) rs777347824
NM_001374736.1(DST):c.18439C>T (p.Gln6147Ter) rs2152486042
NM_001374736.1(DST):c.18668del (p.Gly6223fs)
NM_001374736.1(DST):c.18715C>T (p.Gln6239Ter) rs2096469777
NM_001374736.1(DST):c.18818_18819dup (p.Arg6274fs)
NM_001374736.1(DST):c.19338dup (p.Ile6447fs)
NM_001374736.1(DST):c.19475_19478del (p.Asp6492fs)
NM_001374736.1(DST):c.19973C>G (p.Ser6658Ter)
NM_001374736.1(DST):c.20053dup (p.Thr6685fs) rs2095976276
NM_001374736.1(DST):c.20254G>T (p.Glu6752Ter) rs1480207376
NM_001374736.1(DST):c.20446C>T (p.Gln6816Ter) rs2095802050
NM_001374736.1(DST):c.21233_21234insTTGGG (p.Arg7078fs)
NM_001374736.1(DST):c.21443G>A (p.Trp7148Ter)
NM_001374736.1(DST):c.21465_21466insTT (p.Leu7156fs)
NM_001374736.1(DST):c.2156C>G (p.Ser719Ter)
NM_001374736.1(DST):c.21862C>T (p.Gln7288Ter) rs2152409202
NM_001374736.1(DST):c.21985C>T (p.Arg7329Ter) rs2152403168
NM_001374736.1(DST):c.22005_22006insAT (p.Pro7336fs) rs2094929531
NM_001374736.1(DST):c.22203dup (p.Tyr7402fs)
NM_001374736.1(DST):c.22643G>A (p.Trp7548Ter)
NM_001374736.1(DST):c.22843C>T (p.Arg7615Ter) rs948596983
NM_001374736.1(DST):c.2386C>T (p.Arg796Ter) rs376491126
NM_001374736.1(DST):c.3015C>A (p.Cys1005Ter) rs2152770295
NM_001374736.1(DST):c.3511C>T (p.Gln1171Ter)
NM_001374736.1(DST):c.3914del (p.Leu1305fs) rs2098784614
NM_001374736.1(DST):c.4016del (p.Asn1339fs) rs2152759509
NM_001374736.1(DST):c.4072C>T (p.Arg1358Ter) rs778397331
NM_001374736.1(DST):c.4083_4086dup (p.Val1363Ter) rs2152759445
NM_001374736.1(DST):c.4139del (p.Asp1380fs)
NM_001374736.1(DST):c.4651G>T (p.Glu1551Ter) rs375889300
NM_001374736.1(DST):c.4669_4670del (p.Ser1557fs) rs2152751675
NM_001374736.1(DST):c.4771C>T (p.Gln1591Ter)
NM_001374736.1(DST):c.4792C>T (p.Arg1598Ter) rs1188417345
NM_001374736.1(DST):c.4854_4855dup (p.Thr1619fs) rs2152746765
NM_001374736.1(DST):c.4924del (p.Glu1642fs)
NM_001374736.1(DST):c.5076dup (p.Ser1693fs) rs2098545189
NM_001374736.1(DST):c.5194_5195del (p.Leu1732fs)
NM_001378687.1(ATP2C1):c.1402C>T (p.Arg468Ter) rs137853013
NM_001378687.1(ATP2C1):c.1469G>T (p.Cys490Phe) rs137853014
NM_001378687.1(ATP2C1):c.1751T>C (p.Leu584Pro) rs137853015
NM_001378687.1(ATP2C1):c.2375_2378del (p.Phe792fs) rs1057517706
NM_001378687.1(ATP2C1):c.2460del (p.Met820fs) rs1560033613
NM_001378687.1(ATP2C1):c.769_772dup (p.Leu258fs) rs1559971447
NM_001378687.1(ATP2C1):c.900-1G>A rs1559982055
NM_001378687.1(ATP2C1):c.900-1G>C rs1559982055
NM_001378687.1(ATP2C1):c.910G>A (p.Ala304Thr) rs137853012
NM_001378789.1(CERS3):c.43T>C (p.Trp15Arg) rs762679102
NM_001378789.1(CERS3):c.540G>A (p.Trp180Ter)
NM_001378789.1(CERS3):c.609+1G>T rs587776996
NM_001378789.1(CERS3):c.686G>A (p.Arg229His)
NM_001378789.1(CERS3):c.731G>A (p.Trp244Ter) rs1567644030
NM_001382267.1(SERPINA12):c.1051G>T (p.Glu351Ter)
NM_001382267.1(SERPINA12):c.631C>T (p.Arg211Ter)
NM_001382347.1(MYO5A):c.2012+1G>T rs769021352
NM_001382347.1(MYO5A):c.2110C>T (p.Gln704Ter) rs2141121140
NM_001382347.1(MYO5A):c.4239+871_4315-331del
NM_001382347.1(MYO5A):c.463C>T (p.Arg155Ter) rs2043479059
NM_001382430.1(AKT1):c.1303A>C (p.Thr435Pro) rs397514645
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_001399.4(EDA):c.(?_-115)_(174_?)del
NM_001399.4(EDA):c.(?_397)_(502_?)del
NM_001399.4(EDA):c.(?_397-304)_(460_?)del
NM_001399.4(EDA):c.(?_503)-88_(1176_?)del
NM_001399.4(EDA):c.(?_707)_(741_?)del
NM_001399.4(EDA):c.(?_925)_(1176_?)del
NM_001399.5(EDA):c.-36_47del (p.Met1fs) rs1931920527
NM_001399.5(EDA):c.1009G>T (p.Glu337Ter) rs191378148
NM_001399.5(EDA):c.1029C>G (p.Tyr343Ter)
NM_001399.5(EDA):c.1029del (p.Asn342_Tyr343insTer)
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr) rs132630317
NM_001399.5(EDA):c.1067C>A (p.Ala356Asp) rs876657639
NM_001399.5(EDA):c.1067C>T (p.Ala356Val) rs876657639
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp) rs886039347
NM_001399.5(EDA):c.1091T>C (p.Met364Thr)
NM_001399.5(EDA):c.1100delinsTCAAGATGG (p.Ala367fs) rs1556110934
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys) rs2020255486
NM_001399.5(EDA):c.1119G>A (p.Met373Ile)
NM_001399.5(EDA):c.1119G>T (p.Met373Ile)
NM_001399.5(EDA):c.1133C>T (p.Thr378Met) rs1569407346
NM_001399.5(EDA):c.1136T>C (p.Phe379Ser) rs2147519384
NM_001399.5(EDA):c.1144del (p.Ala382fs)
NM_001399.5(EDA):c.11del (p.Pro4fs) rs1602221405
NM_001399.5(EDA):c.132_135dup (p.Phe46fs) rs727505089
NM_001399.5(EDA):c.134G>A (p.Gly45Asp) rs1931938364
NM_001399.5(EDA):c.167T>A (p.Leu56Gln) rs1569272203
NM_001399.5(EDA):c.167T>C (p.Leu56Pro)
NM_001399.5(EDA):c.180C>A (p.Cys60Ter) rs1131692034
NM_001399.5(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001399.5(EDA):c.183C>G (p.Tyr61Ter) rs132630318
NM_001399.5(EDA):c.187G>A (p.Glu63Lys) rs132630311
NM_001399.5(EDA):c.1A>G (p.Met1Val) rs2147196982
NM_001399.5(EDA):c.213del (p.Glu71fs) rs2147197808
NM_001399.5(EDA):c.216_220del (p.Gly73fs) rs2147197831
NM_001399.5(EDA):c.223G>T (p.Glu75Ter) rs2147197866
NM_001399.5(EDA):c.228_234delinsAA (p.Leu78fs) rs1555972067
NM_001399.5(EDA):c.239dup (p.Ser81fs) rs1555972071
NM_001399.5(EDA):c.252del (p.Gly85fs) rs1569272328
NM_001399.5(EDA):c.271dup (p.Ser91fs) rs1931956776
NM_001399.5(EDA):c.272dup (p.Ser91fs) rs397516656
NM_001399.5(EDA):c.286del (p.Leu96fs)
NM_001399.5(EDA):c.28G>T (p.Glu10Ter)
NM_001399.5(EDA):c.2T>C (p.Met1Thr) rs397516659
NM_001399.5(EDA):c.2T>G (p.Met1Arg)
NM_001399.5(EDA):c.319_322dup (p.Gln108fs) rs876657684
NM_001399.5(EDA):c.326dup (p.Ser110fs) rs2147198269
NM_001399.5(EDA):c.329C>A (p.Ser110Ter) rs397516660
NM_001399.5(EDA):c.347T>A (p.Leu116Ter) rs397516661
NM_001399.5(EDA):c.382del (p.Gln128fs)
NM_001399.5(EDA):c.396+1G>A rs727504537
NM_001399.5(EDA):c.396+2T>G rs727504814
NM_001399.5(EDA):c.396+4dup rs1569272528
NM_001399.5(EDA):c.397-1G>C
NM_001399.5(EDA):c.413_416del (p.Phe138fs) rs2019017595
NM_001399.5(EDA):c.441dup (p.Glu148Ter) rs2147419086
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001399.5(EDA):c.459dup (p.Val154fs) rs1569384962
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001399.5(EDA):c.467G>T (p.Arg156Leu) rs132630314
NM_001399.5(EDA):c.474A>C (p.Lys158Asn) rs727504649
NM_001399.5(EDA):c.479G>A (p.Ser160Asn) rs1556039088
NM_001399.5(EDA):c.486_487insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAAAAGC (p.Asn163delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
NM_001399.5(EDA):c.492del (p.Gly165fs) rs2019019815
NM_001399.5(EDA):c.494G>C (p.Gly165Ala) rs1057521131
NM_001399.5(EDA):c.497del (p.Ala166fs) rs2147419276
NM_001399.5(EDA):c.502+1G>A rs727505013
NM_001399.5(EDA):c.521_522delinsT (p.Lys174fs) rs1556092261
NM_001399.5(EDA):c.526+1G>A rs2147503858
NM_001399.5(EDA):c.527-2A>T rs1569404780
NM_001399.5(EDA):c.543_569del (p.Asn185_Pro193del)
NM_001399.5(EDA):c.552_578del (p.Asn185_Pro193del) rs2147509524
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del) rs397516666
NM_001399.5(EDA):c.560dup (p.Pro188fs) rs1556098384
NM_001399.5(EDA):c.572del (p.Pro191fs)
NM_001399.5(EDA):c.573_574insT (p.Gly192fs) rs1569404873
NM_001399.5(EDA):c.576_592del (p.Pro193fs) rs2147509622
NM_001399.5(EDA):c.585_697del (p.Pro196fs) rs2147509660
NM_001399.5(EDA):c.589del (p.Gln197fs) rs2020137674
NM_001399.5(EDA):c.58C>T (p.Arg20Ter)
NM_001399.5(EDA):c.595_613del (p.Pro199fs) rs2147509712
NM_001399.5(EDA):c.599del (p.Pro200fs) rs1556098570
NM_001399.5(EDA):c.599dup (p.Gly201fs) rs1556098570
NM_001399.5(EDA):c.602G>A (p.Gly201Glu) rs2147509771
NM_001399.5(EDA):c.605_631del (p.Ile202_Gly210del) rs1602618255
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) rs1064793104
NM_001399.5(EDA):c.614_699del (p.Ile205fs) rs2147509775
NM_001399.5(EDA):c.619G>A (p.Gly207Arg) rs2147509825
NM_001399.5(EDA):c.620G>A (p.Gly207Glu) rs2020139491
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.628G>A (p.Gly210Arg) rs1556098733
NM_001399.5(EDA):c.628G>T (p.Gly210Ter) rs1556098733
NM_001399.5(EDA):c.632C>G (p.Thr211Arg) rs2147509853
NM_001399.5(EDA):c.643G>T (p.Gly215Ter) rs2147509886
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del) rs876657685
NM_001399.5(EDA):c.64_71dup (p.Cys25fs)
NM_001399.5(EDA):c.659C>T (p.Pro220Leu) rs2147509932
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) rs876657686
NM_001399.5(EDA):c.660_668del (p.217PGP[2])
NM_001399.5(EDA):c.662G>A (p.Gly221Asp)
NM_001399.5(EDA):c.670G>C (p.Gly224Arg) rs1602618398
NM_001399.5(EDA):c.671G>C (p.Gly224Ala) rs132630316
NM_001399.5(EDA):c.673_706+2del rs2020140911
NM_001399.5(EDA):c.676C>T (p.Gln226Ter) rs727503007
NM_001399.5(EDA):c.67C>T (p.Gln23Ter) rs132630310
NM_001399.5(EDA):c.681_697del (p.Pro228fs) rs1556098978
NM_001399.5(EDA):c.686dup (p.Gly230fs) rs1602618442
NM_001399.5(EDA):c.706+1G>A rs886039344
NM_001399.5(EDA):c.706+1G>C rs886039344
NM_001399.5(EDA):c.706+5G>T rs780966428
NM_001399.5(EDA):c.707-13T>G rs2147511678
NM_001399.5(EDA):c.707-2A>T rs2147511696
NM_001399.5(EDA):c.720del (p.Ala241fs)
NM_001399.5(EDA):c.730C>T (p.Arg244Ter) rs397516672
NM_001399.5(EDA):c.741G>A (p.Gln247=) rs886042183
NM_001399.5(EDA):c.755A>T (p.His252Leu) rs879255552
NM_001399.5(EDA):c.760C>T (p.Gln254Ter)
NM_001399.5(EDA):c.766C>T (p.Gln256Ter) rs727504417
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001399.5(EDA):c.801A>G (p.Ser267=) rs2147516275
NM_001399.5(EDA):c.809del (p.Val270fs) rs727503008
NM_001399.5(EDA):c.822G>A (p.Trp274Ter) rs397516675
NM_001399.5(EDA):c.822del (p.Trp274fs) rs397516676
NM_001399.5(EDA):c.826C>T (p.Arg276Cys) rs387907197
NM_001399.5(EDA):c.827G>T (p.Arg276Leu) rs1057517731
NM_001399.5(EDA):c.837G>A (p.Met279Ile)
NM_001399.5(EDA):c.865C>T (p.Arg289Cys) rs879255551
NM_001399.5(EDA):c.865del (p.Arg289fs)
NM_001399.5(EDA):c.871G>A (p.Gly291Arg) rs397516677
NM_001399.5(EDA):c.871G>C (p.Gly291Arg)
NM_001399.5(EDA):c.872G>A (p.Gly291Glu) rs886042021
NM_001399.5(EDA):c.876_893del (p.Glu292_Val297del) rs1602622972
NM_001399.5(EDA):c.883del (p.Val295fs)
NM_001399.5(EDA):c.889_898del (p.Val297fs)
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001399.5(EDA):c.896G>A (p.Gly299Asp) rs2147516523
NM_001399.5(EDA):c.904T>C (p.Phe302Leu)
NM_001399.5(EDA):c.912_913dup (p.Ser305fs) rs1569406514
NM_001399.5(EDA):c.916C>T (p.Gln306Ter) rs2147516557
NM_001399.5(EDA):c.917A>C (p.Gln306Pro)
NM_001399.5(EDA):c.924+1G>A rs2147516572
NM_001399.5(EDA):c.924+4A>T
NM_001399.5(EDA):c.948del (p.Phe317fs) rs727503010
NM_001399.5(EDA):c.960T>G (p.Tyr320Ter) rs876657687
NM_001399.5(EDA):c.961G>T (p.Glu321Ter) rs397516682
NM_001399.5(EDA):c.970G>A (p.Val324Met) rs1556110308
NM_001399.5(EDA):c.986T>C (p.Phe329Ser) rs1569407150
NM_001399.5(EDA):c.991C>T (p.Gln331Ter) rs727503011
NM_001399.5(EDA):c.998C>G (p.Thr333Arg) rs1556110379
NM_001399.5(EDA):c.99_100dup (p.Ala34fs)
NM_001399.5(EDA):c.[866G>C;868A>T]
NM_001605.3(AARS1):c.2096T>C (p.Ile699Thr) rs769778018
NM_001605.3(AARS1):c.2176A>G (p.Thr726Ala) rs1312337697
NM_001605.3(AARS1):c.2702G>A (p.Cys901Tyr) rs2152149706
NM_001651.4(AQP5):c.134T>G (p.Ile45Ser) rs398123055
NM_001651.4(AQP5):c.367A>G (p.Asn123Asp) rs398123057
NM_001651.4(AQP5):c.529A>T (p.Ile177Phe) rs398123056
NM_001723.7(DST):c.3410del (p.Thr1137fs) rs2098681738
NM_001723.7(DST):c.3644_3648del (p.Glu1215fs) rs2098678320
NM_001723.7(DST):c.3655C>T (p.Gln1219Ter)
NM_001723.7(DST):c.3745A>T (p.Arg1249Ter) rs398122943
NM_001723.7(DST):c.4080dup (p.Ala1361fs)
NM_001723.7(DST):c.4096C>T (p.Gln1366Ter) rs770035646
NM_001723.7(DST):c.4152del (p.Glu1384fs)
NM_001723.7(DST):c.4189del (p.Thr1397fs)
NM_001723.7(DST):c.4189dup (p.Thr1397fs) rs772099949
NM_001723.7(DST):c.4262del (p.Lys1421fs)
NM_001723.7(DST):c.4477del (p.Ala1493fs) rs758599939
NM_001723.7(DST):c.4534C>T (p.Arg1512Ter) rs761229102
NM_001723.7(DST):c.4545dup (p.Glu1516fs)
NM_001723.7(DST):c.4554_4557del (p.Glu1518fs) rs748899221
NM_001723.7(DST):c.4763T>A (p.Leu1588Ter) rs780422336
NM_001723.7(DST):c.5078_5079del (p.Glu1693fs)
NM_001723.7(DST):c.5177dup (p.Thr1727fs) rs759006806
NM_001723.7(DST):c.5182del (p.Thr1727_Ile1728insTer)
NM_001723.7(DST):c.5221C>T (p.Gln1741Ter)
NM_001723.7(DST):c.5280del (p.Lys1760fs) rs1376812152
NM_001723.7(DST):c.5357del (p.Asn1786fs) rs1440037452
NM_001723.7(DST):c.5416C>T (p.Gln1806Ter) rs2098654029
NM_001723.7(DST):c.5449_5452dup (p.Gln1818fs)
NM_001723.7(DST):c.5484T>A (p.Cys1828Ter)
NM_001723.7(DST):c.5500dup (p.Glu1834fs)
NM_001723.7(DST):c.5729del (p.Pro1910fs)
NM_001723.7(DST):c.5874C>A (p.Tyr1958Ter)
NM_001723.7(DST):c.5949_5950del (p.Lys1984fs) rs2152733577
NM_001723.7(DST):c.7097dup (p.Tyr2366Ter) rs2152729916
NM_001723.7(DST):c.7429del (p.Leu2477fs) rs2152728832
NM_001753.5(CAV1):c.237_238del (p.His79fs)
NM_001753.5(CAV1):c.424C>T (p.Gln142Ter) rs797045176
NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer) rs797044871
NM_001793.6(CDH3):c.1063G>T (p.Asp355Tyr) rs1597809479
NM_001793.6(CDH3):c.1795+1G>C rs752131891
NM_001793.6(CDH3):c.747C>A (p.Tyr249Ter) rs1597807758
NM_001793.6(CDH3):c.830del (p.Gly277fs) rs724159985
NM_001793.6(CDH3):c.965A>T (p.Asn322Ile) rs121434543
NM_001793.6(CDH3):c.981del (p.Met327fs) rs724159984
NM_001814.6(CTSC):c.-55C>A
NM_001814.6(CTSC):c.1015C>T (p.Arg339Cys)
NM_001814.6(CTSC):c.1047del (p.Gly350fs)
NM_001814.6(CTSC):c.1056del (p.Phe351_Tyr352insTer)
NM_001814.6(CTSC):c.1096del (p.His366fs)
NM_001814.6(CTSC):c.1122del (p.Phe374fs)
NM_001814.6(CTSC):c.1141del (p.Leu381fs) rs772132996
NM_001814.6(CTSC):c.1149del (p.His382_Tyr383insTer)
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.1202_1214del (p.Glu401fs)
NM_001814.6(CTSC):c.1235A>G (p.Tyr412Cys) rs28937571
NM_001814.6(CTSC):c.1246_1247del (p.Ala417fs)
NM_001814.6(CTSC):c.124del (p.Gln42fs)
NM_001814.6(CTSC):c.1286G>A (p.Trp429Ter)
NM_001814.6(CTSC):c.1287G>C (p.Trp429Cys)
NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)
NM_001814.6(CTSC):c.189dup (p.Val64fs)
NM_001814.6(CTSC):c.201C>A (p.Tyr67Ter)
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001814.6(CTSC):c.21del (p.Leu7fs)
NM_001814.6(CTSC):c.268C>T (p.Gln90Ter)
NM_001814.6(CTSC):c.303G>A (p.Trp101Ter)
NM_001814.6(CTSC):c.319-1G>A
NM_001814.6(CTSC):c.319-1G>T
NM_001814.6(CTSC):c.328G>T (p.Glu110Ter)
NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
NM_001814.6(CTSC):c.401G>A (p.Trp134Ter)
NM_001814.6(CTSC):c.407del (p.Cys136fs)
NM_001814.6(CTSC):c.415G>A (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>C (p.Gly139Arg)
NM_001814.6(CTSC):c.415G>T (p.Gly139Ter)
NM_001814.6(CTSC):c.436del (p.Ser146fs)
NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)
NM_001814.6(CTSC):c.509dup (p.Tyr170Ter)
NM_001814.6(CTSC):c.526A>T (p.Lys176Ter)
NM_001814.6(CTSC):c.555G>A (p.Trp185Ter)
NM_001814.6(CTSC):c.555dup (p.Thr186fs)
NM_001814.6(CTSC):c.566_572del (p.Thr189fs)
NM_001814.6(CTSC):c.570C>G (p.Tyr190Ter)
NM_001814.6(CTSC):c.586_587del (p.Leu196fs)
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)
NM_001814.6(CTSC):c.606dup (p.Arg203Ter)
NM_001814.6(CTSC):c.622_628del (p.His208fs)
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)
NM_001814.6(CTSC):c.672dup (p.Gln225fs)
NM_001814.6(CTSC):c.706del (p.Asp236fs)
NM_001814.6(CTSC):c.725del (p.Gly242fs)
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
NM_001814.6(CTSC):c.754C>T (p.Gln252Ter)
NM_001814.6(CTSC):c.755A>T (p.Gln252Leu) rs104894207
NM_001814.6(CTSC):c.783del (p.Phe261fs)
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)
NM_001814.6(CTSC):c.857del (p.Gln286fs)
NM_001814.6(CTSC):c.861_863delinsTTGGGCTTAGCCCAA (p.Glu287_Val288delinsAspTrpAlaTer)
NM_001814.6(CTSC):c.877C>T (p.Gln293Ter)
NM_001814.6(CTSC):c.889+1G>A
NM_001814.6(CTSC):c.890-1G>A
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
NM_001814.6(CTSC):c.90C>A (p.Cys30Ter)
NM_001814.6(CTSC):c.930C>G (p.Tyr310Ter)
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)
NM_001814.6(CTSC):c.[1211delA;190_191insA]
NM_001814.6(CTSC):c.[716A>G;757+1G>A]
NM_001854.4(COL11A1):c.2143G>A (p.Gly715Arg)
NM_001854.4(COL11A1):c.3814_3816+1del rs2101038943
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001854.4(COL11A1):c.3816+1G>C rs398122828
NM_001854.4(COL11A1):c.3816+2dup rs1469787406
NM_001854.4(COL11A1):c.3816+5G>A rs1057524237
NM_001854.4(COL11A1):c.4519-2del rs2100852418
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_001866.2(COX7B):c.55C>T (p.Gln19Ter) rs397514585
NM_001866.3(COX7B):c.196del (p.Leu66fs) rs397514583
NM_001866.3(COX7B):c.41-2A>G rs397514584
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe) rs121913403
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) rs121913413
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer) rs1882493359
NM_001922.5(DCT):c.176G>T (p.Gly59Val) rs1885298359
NM_001922.5(DCT):c.183C>G (p.Cys61Trp) rs1885297366
NM_001922.5(DCT):c.212G>A (p.Trp71Ter)
NM_001922.5(DCT):c.876C>A (p.Tyr292Ter) rs201692579
NM_001942.4(DSG1):c.1079dup (p.Ile361fs) rs398122949
NM_001942.4(DSG1):c.121dup (p.Trp41fs) rs398122951
NM_001942.4(DSG1):c.1628del (p.Asn543fs) rs398122950
NM_001942.4(DSG1):c.395C>A (p.Ser132Ter) rs2144091452
NM_001942.4(DSG1):c.430A>T (p.Arg144Ter) rs397515641
NM_001942.4(DSG1):c.601C>T (p.Gln201Ter) rs397515640
NM_001942.4(DSG1):c.724C>T (p.Arg242Ter) rs568609861
NM_001942.4(DSG1):c.76C>T (p.Arg26Ter) rs397515639
NM_001942.4(DSG1):c.85-1G>A rs1568039793
NM_002004.4(FDPS):c.481-1776_847-143del
NM_002004.4(FDPS):c.536G>A (p.Arg179Gln) rs863225241
NM_002004.4(FDPS):c.684+1G>A rs769193201
NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter) rs143418984
NM_002016.2(FLG):c.11452C>T (p.Gln3818Ter) rs148606936
NM_002016.2(FLG):c.1217C>G (p.Ser406Ter)
NM_002016.2(FLG):c.1248dup (p.Ser417fs) rs763225328
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.1830del (p.Arg612fs) rs1570913142
NM_002016.2(FLG):c.2143C>T (p.Gln715Ter) rs797045090
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2929C>T (p.Gln977Ter) rs144419479
NM_002016.2(FLG):c.2976_2977del (p.Arg992fs) rs776968118
NM_002016.2(FLG):c.3222_3225del (p.Ser1074fs) rs745915174
NM_002016.2(FLG):c.3448C>T (p.Arg1150Ter)
NM_002016.2(FLG):c.3702del (p.Ser1235fs) rs397507563
NM_002016.2(FLG):c.3766C>T (p.Gln1256Ter) rs751147313
NM_002016.2(FLG):c.4420C>T (p.Arg1474Ter) rs146686141
NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs) rs761519693
NM_002016.2(FLG):c.487G>T (p.Gly163Ter) rs1214424848
NM_002016.2(FLG):c.5198C>G (p.Ser1733Ter) rs1310447389
NM_002016.2(FLG):c.5368C>T (p.Gln1790Ter) rs200622741
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002016.2(FLG):c.7945del (p.Ser2649fs) rs538406713
NM_002016.2(FLG):c.9815_9818del (p.Arg3272fs) rs769826402
NM_002035.4(KDSR):c.256-2A>C rs1114167451
NM_002035.4(KDSR):c.557A>T (p.Tyr186Phe) rs1114167452
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys) rs1555702147
NM_002072.5(GNAQ):c.547C>G (p.Arg183Gly)
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_002072.5(GNAQ):c.627A>C (p.Gln209His) rs2118444312
NM_002072.5(GNAQ):c.627A>T (p.Gln209His) rs2118444312
NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro) rs875989846
NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr) rs875989847
NM_002204.4(ITGA3):c.1173_1174del (p.Pro392fs)
NM_002204.4(ITGA3):c.1538-1G>A rs1567701091
NM_002204.4(ITGA3):c.1883G>C (p.Arg628Pro) rs140781106
NM_002204.4(ITGA3):c.2070+1G>A rs797045048
NM_002223.4(ITPR2):c.7492G>A (p.Gly2498Ser) rs786204832
NM_002240.5(KCNJ6):c.452CCA[1] (p.Thr152del) rs786204794
NM_002240.5(KCNJ6):c.460G>A (p.Gly154Ser) rs786204795
NM_002272.4(KRT4):c.1303G>A (p.Glu435Lys) rs62642055
NM_002272.4(KRT4):c.419_420insCAA (p.Gln140delinsHisLys) rs587776845
NM_002272.4(KRT4):c.432CAA[2] (p.Asn146del) rs587776844
NM_002281.4(KRT81):c.1204G>A (p.Glu402Lys) rs56821304
NM_002282.3(KRT83):c.1252G>A (p.Glu418Lys) rs1438087533
NM_002282.3(KRT83):c.811del (p.Ser271fs) rs753293188
NM_002283.4(KRT85):c.1448_1449del (p.Pro483fs) rs1565766888
NM_002332.3(LRP1):c.3734A>G (p.Lys1245Arg) rs483353013
NM_002448.3(MSX1):c.280C>T (p.Gln94Ter) rs2108777701
NM_002448.3(MSX1):c.487dup (p.Ala163fs)
NM_002448.3(MSX1):c.623C>A (p.Ser208Ter) rs104893853
NM_002448.3(MSX1):c.655_659del (p.Trp219fs) rs1737950187
NM_002448.3(MSX1):c.661C>T (p.Gln221Ter) rs1553878162
NM_002448.3(MSX1):c.683dup (p.Arg229fs) rs1737950636
NM_002461.3(MVD):c.1013+1G>T rs780212718
NM_002461.3(MVD):c.141+1del rs2142906391
NM_002510.3(GPNMB):c.1056del (p.Pro353fs) rs763065333
NM_002510.3(GPNMB):c.1118-2A>G
NM_002510.3(GPNMB):c.296del (p.Asn99fs) rs1554300664
NM_002510.3(GPNMB):c.393T>G (p.Tyr131Ter)
NM_002510.3(GPNMB):c.660T>G (p.Tyr220Ter) rs770211260
NM_002510.3(GPNMB):c.719_720del (p.Val240fs) rs747723062
NM_002510.3(GPNMB):c.877_880del (p.Val293fs) rs773435101
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002582.3(PARN):c.962+295_1263-8706del
NM_002582.3(PARN):c.[659+4_659+7delAGTA(;)863dupA]
NM_002582.4(PARN):c.1123C>T (p.Gln375Ter) rs1380270401
NM_002582.4(PARN):c.1124_1133del (p.Gln375fs) rs1969578006
NM_002582.4(PARN):c.1148C>T (p.Ala383Val) rs786200999
NM_002582.4(PARN):c.122_123del (p.Ser41fs)
NM_002582.4(PARN):c.1257del (p.Phe419fs) rs942538351
NM_002582.4(PARN):c.1257dup (p.Asn420Ter) rs942538351
NM_002582.4(PARN):c.1414C>T (p.Gln472Ter)
NM_002582.4(PARN):c.1624C>T (p.Gln542Ter) rs745696590
NM_002582.4(PARN):c.1645C>T (p.Gln549Ter)
NM_002582.4(PARN):c.177+1del
NM_002582.4(PARN):c.24del (p.Phe8fs) rs1555512179
NM_002582.4(PARN):c.417_420del (p.Glu139fs) rs2151797695
NM_002582.4(PARN):c.529C>T (p.Gln177Ter) rs876661305
NM_002582.4(PARN):c.563dup (p.Glu189fs) rs878853260
NM_002582.4(PARN):c.659+4_659+7del rs759131762
NM_002582.4(PARN):c.709C>T (p.Arg237Ter) rs760506977
NM_002582.4(PARN):c.713dup (p.Tyr238Ter) rs1971048225
NM_002582.4(PARN):c.714del (p.Arg237_Tyr238insTer)
NM_002582.4(PARN):c.819_820insTAGAAATCATTTCTAGAGTC (p.Ile274Ter) rs1596812454
NM_002582.4(PARN):c.863dup (p.Asn288fs) rs786201001
NM_002582.4(PARN):c.994C>T (p.Gln332Ter)
NM_002640.4(SERPINB8):c.947del (p.Lys316fs) rs762923677
NM_002666.5(PLIN1):c.1191_1192del (p.Val398fs) rs1567075667
NM_002666.5(PLIN1):c.1201_1202dup (p.Val402fs) rs2141525540
NM_002666.5(PLIN1):c.1210-1G>T rs1567075176
NM_002666.5(PLIN1):c.1210-1del rs1964333023
NM_002666.5(PLIN1):c.1308_1309del (p.Pro439fs) rs2141523598
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln) rs397516792
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala) rs121908596
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) rs397516793
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.4(MAP2K1):c.607G>C (p.Glu203Gln) rs1057519733
NM_002855.5(NECTIN1):c.400C>T (p.Arg134Ter) rs769476648
NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter) rs104894281
NM_002855.5(NECTIN1):c.556del (p.Glu186fs) rs876657374
NM_002855.5(NECTIN1):c.969dup (p.Thr324fs) rs878853255
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter) rs104894303
NM_003002.4(SDHD):c.10dup (p.Leu4fs) rs878854589
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.113_116dup (p.Ile40fs) rs1865654197
NM_003002.4(SDHD):c.124_127delinsATA (p.Glu42fs) rs1865655347
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) rs104894308
NM_003002.4(SDHD):c.132T>A (p.Cys44Ter)
NM_003002.4(SDHD):c.136_143del (p.Val46fs)
NM_003002.4(SDHD):c.139C>T (p.Gln47Ter) rs1865655722
NM_003002.4(SDHD):c.13_14del (p.Trp5fs) rs1566690018
NM_003002.4(SDHD):c.147dup (p.His50fs) rs876659130
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter) rs104894310
NM_003002.4(SDHD):c.14_30del (p.Trp5fs)
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter) rs587782210
NM_003002.4(SDHD):c.15G>A (p.Trp5Ter)
NM_003002.4(SDHD):c.169+1G>A rs2135267557
NM_003002.4(SDHD):c.169+1G>T rs2135267557
NM_003002.4(SDHD):c.170-1G>T rs1306475361
NM_003002.4(SDHD):c.170-2A>G
NM_003002.4(SDHD):c.173del (p.Gly58fs) rs878854590
NM_003002.4(SDHD):c.18_21del (p.Leu7fs) rs1555186662
NM_003002.4(SDHD):c.191_192del (p.Leu64fs) rs387906358
NM_003002.4(SDHD):c.198G>A (p.Trp66Ter)
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_003002.4(SDHD):c.204_205del (p.Ser68fs) rs1865686266
NM_003002.4(SDHD):c.205G>T (p.Glu69Ter)
NM_003002.4(SDHD):c.224del (p.Leu75fs) rs2135269378
NM_003002.4(SDHD):c.239T>G (p.Leu80Arg) rs1555187010
NM_003002.4(SDHD):c.241_262del (p.Pro81fs)
NM_003002.4(SDHD):c.242del (p.Pro81fs) rs878854591
NM_003002.4(SDHD):c.264C>A (p.Cys88Ter)
NM_003002.4(SDHD):c.273_274dup (p.Asp92fs)
NM_003002.4(SDHD):c.281_282insAATA (p.Leu95fs) rs2135269697
NM_003002.4(SDHD):c.283del (p.Leu95fs) rs2135269692
NM_003002.4(SDHD):c.288del (p.Ala97fs) rs2135269740
NM_003002.4(SDHD):c.298_301del (p.Thr100fs) rs786203067
NM_003002.4(SDHD):c.2T>C (p.Met1Thr)
NM_003002.4(SDHD):c.305A>G (p.His102Arg) rs104894302
NM_003002.4(SDHD):c.305A>T (p.His102Leu) rs104894302
NM_003002.4(SDHD):c.314+1G>A rs1555187083
NM_003002.4(SDHD):c.314+1G>T rs1555187083
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter) rs1131691065
NM_003002.4(SDHD):c.315-2A>T
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter) rs1060503769
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp) rs1555187574
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter) rs1060503770
NM_003002.4(SDHD):c.336dup (p.Asp113Ter) rs1555187583
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.341_342del (p.Tyr114fs)
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) rs1050032491
NM_003002.4(SDHD):c.352del (p.Asp118fs) rs1131691064
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter) rs878854594
NM_003002.4(SDHD):c.381del (p.Leu128fs) rs1555187601
NM_003002.4(SDHD):c.383_386dup (p.Leu129fs) rs864321644
NM_003002.4(SDHD):c.388dup (p.Ala130fs) rs1131691063
NM_003002.4(SDHD):c.394del (p.Ser132fs) rs1060503773
NM_003002.4(SDHD):c.3G>A (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter) rs1314133983
NM_003002.4(SDHD):c.52+1G>A rs1592777386
NM_003002.4(SDHD):c.52+2T>C rs587776644
NM_003002.4(SDHD):c.53dup (p.Leu19fs) rs886041237
NM_003002.4(SDHD):c.57del (p.Leu20fs) rs587776649
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003002.4(SDHD):c.94_95del (p.Ala33fs) rs397514034
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.1118+2T>C
NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu) rs387906811
NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs) rs587776679
NM_003073.5(SMARCB1):c.233-2_237del
NM_003073.5(SMARCB1):c.307_346del (p.Asn103fs) rs2145964108
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter) rs74315513
NM_003073.5(SMARCB1):c.364G>T (p.Glu122Ter) rs1929106223
NM_003073.5(SMARCB1):c.500+883T>G rs2145980559
NM_003073.5(SMARCB1):c.500+887G>A rs2145980562
NM_003073.5(SMARCB1):c.629-361_795+2103dup
NM_003073.5(SMARCB1):c.747dup (p.Thr250fs) rs2146010204
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val) rs267607072
NM_003183.6(ADAM17):c.1015dup (p.Thr339fs)
NM_003183.6(ADAM17):c.1151del (p.Gly383_Leu384insTer)
NM_003183.6(ADAM17):c.1305_1306del (p.Met435fs)
NM_003183.6(ADAM17):c.1467_1468del (p.Cys489_Asp490delinsTer) rs2124999155
NM_003183.6(ADAM17):c.1573dup (p.Cys525fs)
NM_003183.6(ADAM17):c.1645del (p.Thr549fs) rs1572897958
NM_003183.6(ADAM17):c.1793dup (p.Asn598fs) rs1662434135
NM_003183.6(ADAM17):c.1951C>T (p.Arg651Ter)
NM_003183.6(ADAM17):c.1975_1993+4del rs1662343008
NM_003183.6(ADAM17):c.603_606del (p.Asp201fs) rs387906866
NM_003183.6(ADAM17):c.619+1del
NM_003183.6(ADAM17):c.987_988dup (p.Ser330fs) rs1000050918
NM_003664.4(AP3B1):c.1839_1842delTAGA
NM_003664.5(AP3B1):c.1101dup (p.Phe368fs) rs1744118616
NM_003664.5(AP3B1):c.1168_1230del (p.Leu390_Gln410del)
NM_003664.5(AP3B1):c.1255C>T (p.Gln419Ter)
NM_003664.5(AP3B1):c.1286del (p.Gly429fs)
NM_003664.5(AP3B1):c.1363+1G>A
NM_003664.5(AP3B1):c.1408del (p.Gln470fs)
NM_003664.5(AP3B1):c.1473+6T>C rs1000881595
NM_003664.5(AP3B1):c.1474-7072_1650+921del
NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.5(AP3B1):c.1619dup (p.Ala541fs) rs1753129765
NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg) rs121908904
NM_003664.5(AP3B1):c.1754del (p.Val585fs) rs869312836
NM_003664.5(AP3B1):c.177del (p.Lys59fs) rs869312838
NM_003664.5(AP3B1):c.1907T>G (p.Leu636Ter)
NM_003664.5(AP3B1):c.1930_1937del (p.Pro644fs)
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
NM_003664.5(AP3B1):c.1973_1983dup (p.Pro662fs)
NM_003664.5(AP3B1):c.1975G>T (p.Glu659Ter) rs121908907
NM_003664.5(AP3B1):c.237_238del (p.Phe80fs) rs2112518616
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
NM_003664.5(AP3B1):c.2675_2679del (p.Pro892fs)
NM_003664.5(AP3B1):c.2694_2712del (p.Met899fs) rs2112100310
NM_003664.5(AP3B1):c.2702C>G (p.Ser901Cys) rs869312835
NM_003664.5(AP3B1):c.2734C>T (p.Arg912Ter)
NM_003664.5(AP3B1):c.2738del (p.Lys913fs) rs2112100217
NM_003664.5(AP3B1):c.2757del (p.Ile919fs) rs2112100189
NM_003664.5(AP3B1):c.2801del (p.Asn934fs) rs2112100020
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
NM_003664.5(AP3B1):c.716G>A (p.Trp239Ter) rs869312837
NM_003664.5(AP3B1):c.753T>G (p.Tyr251Ter)
NM_003664.5(AP3B1):c.778del (p.Trp260fs)
NM_003664.5(AP3B1):c.779G>A (p.Trp260Ter) rs1745947620
NM_003664.5(AP3B1):c.904A>T (p.Arg302Ter) rs121908905
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly) rs113993966
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) rs113993967
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) rs121908845
NM_003722.5(TP63):c.1659A>T (p.Leu553Phe) rs121908842
NM_003722.5(TP63):c.1681T>G (p.Cys561Gly) rs121908843
NM_003722.5(TP63):c.1693_1694del (p.Phe565fs) rs2108864814
NM_003722.5(TP63):c.1738T>C (p.Ser580Pro) rs121908846
NM_003722.5(TP63):c.1790T>C (p.Ile597Thr) rs1577213466
NM_003722.5(TP63):c.1827del (p.Glu609fs) rs2108873431
NM_003722.5(TP63):c.1833_1843dup (p.His615fs)
NM_003722.5(TP63):c.1861del (p.Ser621fs) rs1721306735
NM_003722.5(TP63):c.1900del (p.Arg634fs) rs2108874029
NM_003722.5(TP63):c.1927C>T (p.Arg643Ter) rs1560311554
NM_003722.5(TP63):c.1976del (p.Asn659fs) rs2108874645
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
NM_003784.4(SERPINB7):c.218_219delinsTAAACTTTACCT (p.Gln73fs) rs797044479
NM_003784.4(SERPINB7):c.650_653del (p.Ser217fs) rs534014297
NM_003999.3(OSMR):c.1853G>C (p.Gly618Ala) rs63750560
NM_003999.3(OSMR):c.1940A>T (p.Asp647Val) rs387906821
NM_003999.3(OSMR):c.2072T>C (p.Ile691Thr) rs63750567
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr) rs28931594
NM_004004.6(GJB2):c.162C>A (p.Asn54Lys) rs104894412
NM_004004.6(GJB2):c.175G>A (p.Gly59Ser) rs104894410
NM_004004.6(GJB2):c.175G>C (p.Gly59Arg) rs104894410
NM_004004.6(GJB2):c.176G>C (p.Gly59Ala) rs104894404
NM_004004.6(GJB2):c.218A>G (p.His73Arg) rs121912968
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.263C>T (p.Ala88Val) rs1555341945
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) rs104894408
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe) rs28929485
NM_004004.6(GJB2):c.526A>G (p.Asn176Asp) rs781767722
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.576del (p.Val193fs) rs747847191
NM_004004.6(GJB2):c.66G>T (p.Lys22Asn) rs879253741
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004176.5(SREBF1):c.1579C>T (p.Arg527Cys) rs2033690347
NM_004176.5(SREBF1):c.1582_1584del (p.Asn528del) rs2033689385
NM_004176.5(SREBF1):c.1589T>C (p.Leu530Pro) rs2033688284
NM_004260.4(RECQL4):c.1149G>A (p.Trp383Ter) rs1564804479
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) rs34134064
NM_004260.4(RECQL4):c.1650_1656del (p.Ala551fs) rs786200887
NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter) rs770709355
NM_004260.4(RECQL4):c.1704+1G>A rs760363252
NM_004260.4(RECQL4):c.1919_1924del (p.Leu640_Ala642delinsPro) rs786200890
NM_004260.4(RECQL4):c.2059-1G>C rs386833849
NM_004260.4(RECQL4):c.2059-1G>T rs386833849
NM_004260.4(RECQL4):c.2428C>T (p.Gln810Ter)
NM_004260.4(RECQL4):c.757C>T (p.Gln253Ter)
NM_004260.4(RECQL4):c.988dup (p.Ala330fs) rs2130718434
NM_004260.4(RECQL4):c.[1724_1725del;691G>A]
NM_004278.4(PIGL):c.274del (p.Leu92fs) rs758633805
NM_004278.4(PIGL):c.652C>T (p.Gln218Ter) rs139004722
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser) rs397507473
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1454T>G (p.Leu485Trp) rs397507475
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn) rs397507476
NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn) rs397507476
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val) rs180177039
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln) rs869025340
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1720C>T (p.His574Tyr) rs397516894
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg) rs121913375
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro) rs397507465
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004357.5(CD151):c.19A>T (p.Lys7Ter) rs1846753757
NM_004357.5(CD151):c.382dup (p.Asp128fs) rs1565118389
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) rs587782798
NM_004360.5(CDH1):c.1320+1G>C rs886039685
NM_004360.5(CDH1):c.1320G>T (p.Lys440Asn) rs1555515925
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.2028C>A (p.Asp676Glu) rs1555517099
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004360.5(CDH1):c.760G>T (p.Asp254Tyr) rs1555515445
NM_004415.2(DSP):c.2131_2132delAG rs587782927
NM_004415.2(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT
NM_004415.4(DSP):c.1003del (p.Gln335fs) rs2113671104
NM_004415.4(DSP):c.1009_1010dup (p.Leu338fs) rs2113671123
NM_004415.4(DSP):c.1042G>T (p.Glu348Ter)
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs) rs1249913357
NM_004415.4(DSP):c.1080G>A (p.Trp360Ter) rs2113672480
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter) rs778856526
NM_004415.4(DSP):c.1099_1100del (p.Cys367fs) rs2113672514
NM_004415.4(DSP):c.1119del (p.Glu374fs)
NM_004415.4(DSP):c.1146del (p.Phe382fs) rs397516913
NM_004415.4(DSP):c.1162del (p.Thr388fs) rs1554106742
NM_004415.4(DSP):c.1182del (p.Leu395fs) rs1554106743
NM_004415.4(DSP):c.1186del (p.Gln396fs) rs2113673178
NM_004415.4(DSP):c.1209C>A (p.Tyr403Ter) rs2113673248
NM_004415.4(DSP):c.1209C>G (p.Tyr403Ter)
NM_004415.4(DSP):c.1215C>A (p.Cys405Ter)
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter) rs1758912749
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter) rs1057523045
NM_004415.4(DSP):c.1249C>T (p.Gln417Ter)
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1276G>T (p.Glu426Ter)
NM_004415.4(DSP):c.1282dup (p.Ile428fs) rs1561687796
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter) rs761380979
NM_004415.4(DSP):c.1293del (p.Glu430_Tyr431insTer) rs2113674180
NM_004415.4(DSP):c.1339C>T (p.Gln447Ter) rs2113674300
NM_004415.4(DSP):c.1351C>G (p.Arg451Gly) rs1057518309
NM_004415.4(DSP):c.1386_1389del (p.Leu463fs)
NM_004415.4(DSP):c.1411_1412insT (p.Gln471fs) rs1581802715
NM_004415.4(DSP):c.1438dup (p.Asp480fs)
NM_004415.4(DSP):c.1439del (p.Asp480fs) rs2113675360
NM_004415.4(DSP):c.1441G>T (p.Glu481Ter)
NM_004415.4(DSP):c.1445_1446del (p.Cys482fs)
NM_004415.4(DSP):c.1479G>A (p.Trp493Ter) rs1758962311
NM_004415.4(DSP):c.1523_1524del (p.Val508fs)
NM_004415.4(DSP):c.1582del (p.Gln528fs) rs2113677263
NM_004415.4(DSP):c.1609_1610del (p.Trp537fs)
NM_004415.4(DSP):c.1611G>A (p.Trp537Ter) rs794728114
NM_004415.4(DSP):c.1656C>G (p.Tyr552Ter) rs1759011966
NM_004415.4(DSP):c.1680del (p.Arg561fs)
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile) rs606231295
NM_004415.4(DSP):c.1708del (p.Thr570fs)
NM_004415.4(DSP):c.1710_1711del (p.Met571fs) rs2113678808
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.1789T>C (p.Ser597Pro)
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) rs606231294
NM_004415.4(DSP):c.1817_1846dup (p.Arg606_Ala615dup) rs606231293
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter) rs1561690319
NM_004415.4(DSP):c.1831C>T (p.Gln611Ter) rs1581805788
NM_004415.4(DSP):c.1846C>T (p.Gln616Ter)
NM_004415.4(DSP):c.1847A>C (p.Gln616Pro) rs1184921987
NM_004415.4(DSP):c.1853A>C (p.His618Pro) rs1554107096
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter) rs1554107097
NM_004415.4(DSP):c.1865T>C (p.Leu622Pro) rs1554107098
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.1883del (p.Gly628fs) rs1060500613
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter) rs1464886350
NM_004415.4(DSP):c.1941dup (p.Asp648fs) rs2113679761
NM_004415.4(DSP):c.1978_1979del (p.Glu660fs)
NM_004415.4(DSP):c.1990C>T (p.Gln664Ter) rs121912995
NM_004415.4(DSP):c.2000G>A (p.Trp667Ter) rs760214732
NM_004415.4(DSP):c.2011G>T (p.Glu671Ter) rs2113679972
NM_004415.4(DSP):c.2060del (p.Thr687fs) rs2113680129
NM_004415.4(DSP):c.2068_2069del (p.Asn690fs)
NM_004415.4(DSP):c.2086del (p.Gln696fs)
NM_004415.4(DSP):c.2149del (p.Gln717fs) rs2113682999
NM_004415.4(DSP):c.214C>T (p.Gln72Ter) rs397516923
NM_004415.4(DSP):c.2166del (p.Leu723fs)
NM_004415.4(DSP):c.2179A>T (p.Lys727Ter)
NM_004415.4(DSP):c.2181dup (p.Asp728fs)
NM_004415.4(DSP):c.2185_2186del (p.Met729fs)
NM_004415.4(DSP):c.2185dup (p.Met729fs) rs2113683109
NM_004415.4(DSP):c.2223T>G (p.Tyr741Ter) rs2113683217
NM_004415.4(DSP):c.2227C>T (p.Gln743Ter)
NM_004415.4(DSP):c.2236del (p.Val746fs) rs1759155407
NM_004415.4(DSP):c.2276_2277insA (p.Thr760fs)
NM_004415.4(DSP):c.2278dup (p.Thr760fs)
NM_004415.4(DSP):c.2298-2A>C rs1759176299
NM_004415.4(DSP):c.2311del (p.Arg771fs)
NM_004415.4(DSP):c.2323C>T (p.Gln775Ter) rs1581809567
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter) rs2113684096
NM_004415.4(DSP):c.2390_2393del (p.Val797fs) rs754566092
NM_004415.4(DSP):c.2427T>A (p.Cys809Ter) rs121912994
NM_004415.4(DSP):c.247_248del (p.Met83fs)
NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) rs1561693779
NM_004415.4(DSP):c.2498dup (p.Lys834fs) rs1759204244
NM_004415.4(DSP):c.250C>T (p.Arg84Ter) rs768521444
NM_004415.4(DSP):c.2521C>T (p.Gln841Ter)
NM_004415.4(DSP):c.2528C>G (p.Ser843Ter)
NM_004415.4(DSP):c.2530C>T (p.Gln844Ter)
NM_004415.4(DSP):c.2533C>T (p.Gln845Ter) rs2113685159
NM_004415.4(DSP):c.2538T>A (p.Tyr846Ter)
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
NM_004415.4(DSP):c.2617C>T (p.Gln873Ter) rs794728118
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter) rs2113686447
NM_004415.4(DSP):c.2644G>T (p.Glu882Ter) rs730880081
NM_004415.4(DSP):c.2650C>T (p.Gln884Ter) rs2113686466
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
NM_004415.4(DSP):c.2655del (p.Lys886fs) rs2113686478
NM_004415.4(DSP):c.2703G>A (p.Trp901Ter)
NM_004415.4(DSP):c.2706_2707del (p.Leu902_Tyr903insTer) rs1759240256
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter) rs1561694696
NM_004415.4(DSP):c.2735dup (p.Leu912fs)
NM_004415.4(DSP):c.2770_2771dup (p.Met924fs)
NM_004415.4(DSP):c.2784_2785del (p.Asn928fs)
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2832del (p.Glu945fs) rs2113687612
NM_004415.4(DSP):c.2834_2835del (p.Glu945fs) rs2113687617
NM_004415.4(DSP):c.2842del (p.Gln948fs)
NM_004415.4(DSP):c.2847_2848delinsT (p.Lys949fs)
NM_004415.4(DSP):c.2848del (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2848dup (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2870_2874del (p.Asn956_Ser957insTer) rs794728139
NM_004415.4(DSP):c.2876_2877+3del rs730880023
NM_004415.4(DSP):c.2890C>T (p.Gln964Ter) rs2113688859
NM_004415.4(DSP):c.2903dup (p.Tyr968Ter) rs2113688911
NM_004415.4(DSP):c.2917G>T (p.Glu973Ter)
NM_004415.4(DSP):c.2923_2924del (p.Leu975fs)
NM_004415.4(DSP):c.292G>T (p.Gly98Ter)
NM_004415.4(DSP):c.2947_2948del (p.Thr983fs) rs1554107839
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.298C>T (p.Gln100Ter)
NM_004415.4(DSP):c.3018dup (p.Leu1007fs)
NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs) rs1554107916
NM_004415.4(DSP):c.3045del (p.Arg1015fs) rs1409693501
NM_004415.4(DSP):c.3064_3065del (p.Lys1022fs)
NM_004415.4(DSP):c.3094del (p.Thr1032fs) rs2113690997
NM_004415.4(DSP):c.3110del (p.Leu1037fs)
NM_004415.4(DSP):c.3126del (p.Arg1042fs)
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.313C>T (p.Arg105Ter) rs1435125402
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) rs397516932
NM_004415.4(DSP):c.3192dup (p.Tyr1065fs) rs778930865
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) rs886039178
NM_004415.4(DSP):c.3203_3204del (p.Glu1068fs)
NM_004415.4(DSP):c.320T>A (p.Leu107Ter) rs2113657559
NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter)
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) rs1554108050
NM_004415.4(DSP):c.3253C>T (p.Gln1085Ter) rs1759345923
NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter) rs1561697181
NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) rs1561680649
NM_004415.4(DSP):c.330_334del (p.Phe111fs) rs1581792793
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.3338del (p.Arg1113fs) rs2113691528
NM_004415.4(DSP):c.3346del (p.Tyr1116fs) rs2113691557
NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter) rs772646601
NM_004415.4(DSP):c.3415_3417delinsG (p.Tyr1139fs) rs1064794616
NM_004415.4(DSP):c.3439C>T (p.Gln1147Ter) rs2113691766
NM_004415.4(DSP):c.3449del (p.Lys1150fs) rs2113691774
NM_004415.4(DSP):c.3465G>A (p.Trp1155Ter) rs1759354150
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter) rs1581815654
NM_004415.4(DSP):c.3474dup (p.Glu1159fs) rs727503000
NM_004415.4(DSP):c.3494dup (p.Glu1166fs) rs2113691887
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3529del (p.Leu1177fs)
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter) rs1759357763
NM_004415.4(DSP):c.3541G>T (p.Glu1181Ter)
NM_004415.4(DSP):c.3564T>A (p.Tyr1188Ter) rs2113692122
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter) rs1759359916
NM_004415.4(DSP):c.3578_3579insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGAGCTGGC (p.Ala1193_Lys1194insAlaGlyArgGlyGlySerArgLeuTer) rs2113692133
NM_004415.4(DSP):c.3608_3609insAC (p.Met1203fs) rs2113692208
NM_004415.4(DSP):c.3619delinsGGG (p.Arg1207fs)
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3639_3640del (p.Glu1213fs) rs2113692271
NM_004415.4(DSP):c.3733del (p.Glu1245fs) rs794728142
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3739C>T (p.Arg1247Ter) rs1413961070
NM_004415.4(DSP):c.3757del (p.Ile1253fs) rs2113692562
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter) rs2113692628
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter) rs1554108172
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.3826C>T (p.Gln1276Ter)
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter) rs397516933
NM_004415.4(DSP):c.384dup (p.Arg129fs)
NM_004415.4(DSP):c.3850del (p.Glu1283_Ile1284insTer)
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
NM_004415.4(DSP):c.3858_3859insGG (p.Lys1287fs)
NM_004415.4(DSP):c.3889C>T (p.Gln1297Ter)
NM_004415.4(DSP):c.3891_3894dup (p.Met1299fs) rs1581816570
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)
NM_004415.4(DSP):c.3991_3995del (p.Leu1330_Lys1331insTer)
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) rs879255521
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4044_4047del (p.Ser1349fs)
NM_004415.4(DSP):c.4076_4106del (p.Ile1359fs)
NM_004415.4(DSP):c.4113_4114insCAAG (p.Ile1372fs)
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs) rs1759385935
NM_004415.4(DSP):c.415del (p.Gln139fs)
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.4201G>T (p.Glu1401Ter) rs774065012
NM_004415.4(DSP):c.4229dup (p.Arg1411fs)
NM_004415.4(DSP):c.4245_4254del (p.Leu1416fs)
NM_004415.4(DSP):c.4252C>T (p.Gln1418Ter)
NM_004415.4(DSP):c.4297C>T (p.Gln1433Ter) rs1554108283
NM_004415.4(DSP):c.4305_4311del (p.Thr1436fs) rs2113693785
NM_004415.4(DSP):c.4337_4338insTGCT (p.Gln1446fs) rs2113693861
NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter) rs1561698750
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4384_4387del (p.Glu1461_Ser1462insTer) rs1759396933
NM_004415.4(DSP):c.4388dup (p.Arg1464fs)
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
NM_004415.4(DSP):c.4411dup (p.Asp1471fs)
NM_004415.4(DSP):c.4423del (p.Thr1475fs) rs1227662860
NM_004415.4(DSP):c.4434_4464dup (p.Leu1489Ter) rs2113694068
NM_004415.4(DSP):c.4434dup (p.Lys1479Ter) rs2113694076
NM_004415.4(DSP):c.4451_4454del (p.Glu1484fs)
NM_004415.4(DSP):c.4462C>T (p.Gln1488Ter)
NM_004415.4(DSP):c.4477_4480del (p.Glu1493fs)
NM_004415.4(DSP):c.448C>T (p.Arg150Ter) rs2113659637
NM_004415.4(DSP):c.4491del (p.Lys1498fs)
NM_004415.4(DSP):c.4579_4582del (p.Asn1526_Lys1527insTer) rs2113694449
NM_004415.4(DSP):c.4608dup (p.Arg1537fs)
NM_004415.4(DSP):c.465del (p.Ile156fs) rs1554105911
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs) rs2113694673
NM_004415.4(DSP):c.4699C>T (p.Gln1567Ter) rs2113694704
NM_004415.4(DSP):c.4751_4752del (p.Ala1584fs) rs2113694794
NM_004415.4(DSP):c.4751del (p.Ala1584fs)
NM_004415.4(DSP):c.4753_4759del (p.Ser1585fs) rs2113694822
NM_004415.4(DSP):c.4778_4790del (p.Lys1593fs)
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter) rs1259613160
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.4(DSP):c.4875del (p.Lys1626fs)
NM_004415.4(DSP):c.4876_4880del (p.Lys1626fs) rs1759421816
NM_004415.4(DSP):c.4879_4883del (p.Lys1627fs)
NM_004415.4(DSP):c.4882_4886delinsTCTT (p.Arg1628fs)
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.4882del (p.Arg1628fs) rs2113695145
NM_004415.4(DSP):c.4902del (p.Gln1635fs)
NM_004415.4(DSP):c.490_491insAGCTCGAGTCCCT (p.Ala164fs) rs1758603690
NM_004415.4(DSP):c.4941del (p.Lys1647fs)
NM_004415.4(DSP):c.4951C>T (p.Gln1651Ter)
NM_004415.4(DSP):c.4954dup (p.Glu1652fs)
NM_004415.4(DSP):c.4974_4975del (p.Ser1658_Ser1659insTer) rs1759426108
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.5004dup (p.Leu1669fs) rs2113695398
NM_004415.4(DSP):c.5011del (p.Glu1671fs)
NM_004415.4(DSP):c.5014C>T (p.Gln1672Ter) rs786205416
NM_004415.4(DSP):c.5020dup (p.Ser1674fs) rs2113695431
NM_004415.4(DSP):c.5028_5031del (p.Gln1677fs)
NM_004415.4(DSP):c.5063_5072del (p.Ala1688fs) rs2113695514
NM_004415.4(DSP):c.5119C>T (p.Gln1707Ter)
NM_004415.4(DSP):c.5120_5123del (p.Gln1707fs)
NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
NM_004415.4(DSP):c.5133_5134insC (p.Asn1712fs)
NM_004415.4(DSP):c.5146del (p.Glu1716fs)
NM_004415.4(DSP):c.5154del (p.Met1719fs)
NM_004415.4(DSP):c.51del (p.Met17fs)
NM_004415.4(DSP):c.5210del (p.Gly1737fs) rs1581819043
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.522T>A (p.Cys174Ter) rs144781697
NM_004415.4(DSP):c.523C>T (p.Gln175Ter) rs1581794029
NM_004415.4(DSP):c.5262_5266dup (p.Leu1756fs)
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) rs1554108477
NM_004415.4(DSP):c.5299C>T (p.Gln1767Ter)
NM_004415.4(DSP):c.5303_5304dup (p.Leu1769fs)
NM_004415.4(DSP):c.5318del (p.Leu1773fs) rs2113696088
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
NM_004415.4(DSP):c.5389dup (p.Arg1797fs) rs1759475221
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter) rs397516946
NM_004415.4(DSP):c.5431G>T (p.Glu1811Ter) rs2113697854
NM_004415.4(DSP):c.5438_5441del (p.Glu1813fs)
NM_004415.4(DSP):c.5440_5441del (p.Ser1814fs)
NM_004415.4(DSP):c.5460_5472del (p.Val1821fs) rs1759478436
NM_004415.4(DSP):c.5460dup (p.Val1821fs) rs1554108609
NM_004415.4(DSP):c.5462del (p.Val1821fs) rs2113697914
NM_004415.4(DSP):c.5542del (p.Arg1848fs) rs1759482084
NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) rs1554108621
NM_004415.4(DSP):c.5551C>T (p.Gln1851Ter)
NM_004415.4(DSP):c.5648C>A (p.Ser1883Ter)
NM_004415.4(DSP):c.5656_5657del (p.Glu1886fs) rs1759489185
NM_004415.4(DSP):c.5664_5667del (p.Ser1888fs) rs1759489644
NM_004415.4(DSP):c.5671_5674del (p.Glu1891fs) rs1487814687
NM_004415.4(DSP):c.5673_5674del (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5673_5674dup (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5731G>T (p.Glu1911Ter)
NM_004415.4(DSP):c.573_576del (p.Cys191fs)
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) rs1060500607
NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter) rs2113698710
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs) rs1561701401
NM_004415.4(DSP):c.5779C>T (p.Gln1927Ter)
NM_004415.4(DSP):c.5782_5785del (p.Leu1928fs)
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter) rs121912996
NM_004415.4(DSP):c.5806C>T (p.Gln1936Ter) rs2113698797
NM_004415.4(DSP):c.582G>A (p.Trp194Ter)
NM_004415.4(DSP):c.5830C>T (p.Gln1944Ter) rs2113698863
NM_004415.4(DSP):c.5850_5851delinsAT (p.His1950_Arg1951delinsGlnTer) rs2113698912
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.5855del (p.Glu1952fs) rs1759501217
NM_004415.4(DSP):c.5877G>A (p.Trp1959Ter)
NM_004415.4(DSP):c.5887dup (p.Thr1963fs) rs2113699015
NM_004415.4(DSP):c.5943dup (p.Glu1982Ter) rs2113699152
NM_004415.4(DSP):c.5964_5968del (p.Lys1988fs)
NM_004415.4(DSP):c.5987del (p.Lys1996fs) rs1759510200
NM_004415.4(DSP):c.5999_6011del (p.Ser2000fs)
NM_004415.4(DSP):c.6072_6073insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCATCTGCTTCT (p.Pro2025fs)
NM_004415.4(DSP):c.6084dup (p.Tyr2029fs) rs2113699501
NM_004415.4(DSP):c.6085dup (p.Tyr2029fs)
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.623del (p.Gly208fs) rs2113665067
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
NM_004415.4(DSP):c.6262del (p.Ala2088fs) rs1759522381
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.6288dup (p.Asp2097Ter) rs2113699911
NM_004415.4(DSP):c.6318del (p.Val2107fs) rs2113699991
NM_004415.4(DSP):c.6382C>T (p.Gln2128Ter) rs2113700191
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.6398dup (p.Val2134fs) rs794728147
NM_004415.4(DSP):c.6456dup (p.Leu2153fs) rs1554108854
NM_004415.4(DSP):c.6466dup (p.Arg2156fs) rs1554108859
NM_004415.4(DSP):c.646dup (p.Gln216fs) rs2113665124
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) rs777573018
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) rs794728148
NM_004415.4(DSP):c.6516del (p.Phe2172fs)
NM_004415.4(DSP):c.6562del (p.Glu2188fs) rs2113700654
NM_004415.4(DSP):c.6583_6584del (p.His2195fs) rs1561702771
NM_004415.4(DSP):c.6605del (p.Leu2201_Ser2202insTer)
NM_004415.4(DSP):c.6697_6698del (p.Val2233fs) rs2113700906
NM_004415.4(DSP):c.6766_6767insTG (p.Gly2256fs) rs2113701020
NM_004415.4(DSP):c.6767del (p.Gly2256fs) rs1759546885
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) rs794728130
NM_004415.4(DSP):c.6937del (p.Glu2313fs) rs794728143
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.698G>A (p.Trp233Ter)
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.700C>T (p.Gln234Ter) rs1758740270
NM_004415.4(DSP):c.7075del (p.Ile2359fs) rs1561703363
NM_004415.4(DSP):c.7082dup (p.His2363fs) rs2113701589
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.4(DSP):c.7097G>A (p.Arg2366His) rs387906618
NM_004415.4(DSP):c.7123G>C (p.Gly2375Arg) rs376923069
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.7214_7217del (p.Leu2405fs)
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter) rs2113701867
NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter) rs1194358112
NM_004415.4(DSP):c.7248del (p.Phe2416fs) rs730880024
NM_004415.4(DSP):c.7254dup (p.Asn2419fs)
NM_004415.4(DSP):c.729del (p.Glu244fs)
NM_004415.4(DSP):c.7325_7326del (p.Cys2442fs)
NM_004415.4(DSP):c.7372_7373del (p.Lys2458fs) rs1581823931
NM_004415.4(DSP):c.7393_7400del (p.Arg2465fs) rs2113702255
NM_004415.4(DSP):c.7469del (p.Tyr2490fs) rs1581824066
NM_004415.4(DSP):c.748C>T (p.Gln250Ter) rs2113666898
NM_004415.4(DSP):c.7529del (p.Gly2510fs) rs2113702487
NM_004415.4(DSP):c.7563_7566del (p.Asp2521fs) rs1320456072
NM_004415.4(DSP):c.7567_7570del (p.Lys2523fs) rs1759580297
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) rs1561703922
NM_004415.4(DSP):c.7623del (p.Lys2542fs) rs397514039
NM_004415.4(DSP):c.7662del (p.Thr2555fs)
NM_004415.4(DSP):c.7738del (p.Asp2580fs)
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs) rs763560697
NM_004415.4(DSP):c.7780del (p.Ser2594fs) rs397514045
NM_004415.4(DSP):c.7820del (p.Ser2607fs) rs2113703361
NM_004415.4(DSP):c.7873dup (p.Thr2625fs) rs794728149
NM_004415.4(DSP):c.7874_7875del (p.Thr2625fs) rs1561704475
NM_004415.4(DSP):c.7876_7877del (p.Glu2626fs)
NM_004415.4(DSP):c.7918_7919dup (p.Ile2641fs) rs1759606062
NM_004415.4(DSP):c.7960C>T (p.Gln2654Ter)
NM_004415.4(DSP):c.7968_7972del (p.Cys2656fs)
NM_004415.4(DSP):c.7997del (p.Gly2666fs)
NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter) rs1064793890
NM_004415.4(DSP):c.8014dup (p.Gln2672fs)
NM_004415.4(DSP):c.8040dup (p.Asp2681Ter)
NM_004415.4(DSP):c.8041_8042del (p.Asp2681fs)
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) rs879254352
NM_004415.4(DSP):c.808C>T (p.Arg270Ter)
NM_004415.4(DSP):c.8140A>T (p.Lys2714Ter)
NM_004415.4(DSP):c.8143del (p.Glu2715fs)
NM_004415.4(DSP):c.8156del (p.Pro2719fs) rs1554109181
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) rs879254353
NM_004415.4(DSP):c.8173del (p.Arg2725fs) rs1759623444
NM_004415.4(DSP):c.8182dup (p.Glu2728fs) rs1554109187
NM_004415.4(DSP):c.818dup (p.Asn274fs) rs1758828554
NM_004415.4(DSP):c.827_830del (p.Ile276fs) rs1758828907
NM_004415.4(DSP):c.829C>T (p.Gln277Ter)
NM_004415.4(DSP):c.84C>A (p.Tyr28Ter)
NM_004415.4(DSP):c.855G>A (p.Trp285Ter)
NM_004415.4(DSP):c.85G>T (p.Glu29Ter) rs1320349488
NM_004415.4(DSP):c.861T>G (p.Asn287Lys) rs121912993
NM_004415.4(DSP):c.867C>A (p.Cys289Ter) rs397516973
NM_004415.4(DSP):c.877G>A (p.Glu293Lys) rs876657799
NM_004415.4(DSP):c.888C>A (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.894G>A (p.Trp298Ter) rs2113669445
NM_004415.4(DSP):c.897C>A (p.Ser299Arg)
NM_004415.4(DSP):c.919C>T (p.Gln307Ter) rs1238227166
NM_004415.4(DSP):c.924dup (p.Gln309fs) rs2113669536
NM_004415.4(DSP):c.925C>T (p.Gln309Ter) rs1581799453
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.931del (p.Ala311fs)
NM_004415.4(DSP):c.939+1G>T rs727504443
NM_004415.4(DSP):c.939+1del rs1758835134
NM_004415.4(DSP):c.939+2T>C rs2113669594
NM_004415.4(DSP):c.942dup (p.Arg315fs) rs1758864039
NM_004415.4(DSP):c.991C>T (p.Gln331Ter) rs121912991
NM_004415.4(DSP):c.997del (p.Ser333fs)
NM_004425.4(ECM1):c.1209_1210insTAGGAAGCCAATTGATATCATAGCTCAGACCATACCTATGTATCCAAATGGTTCTTTTTTTCC (p.Asn404Ter) rs2101440055
NM_004425.4(ECM1):c.1246C>T (p.Arg416Ter)
NM_004425.4(ECM1):c.1287_1288del (p.Arg430fs) rs2101440353
NM_004425.4(ECM1):c.1304+33_*300del
NM_004425.4(ECM1):c.1304+35_*302del
NM_004425.4(ECM1):c.1393-1G>T rs1560267428
NM_004425.4(ECM1):c.1450_1454del (p.Ala484fs)
NM_004425.4(ECM1):c.480G>A (p.Trp160Ter) rs1560265435
NM_004425.4(ECM1):c.542_543insAACCAAATCTGAA (p.Cys181Ter)
NM_004425.4(ECM1):c.806G>A (p.Cys269Tyr) rs756977475
NM_004628.4(XPC):c.621_622ins83 (p.?)
NM_004628.5(XPC):c.103+1G>A rs1423398589
NM_004628.5(XPC):c.128del (p.Pro43fs) rs1260189637
NM_004628.5(XPC):c.1292_1293del (p.Lys431fs) rs794729654
NM_004628.5(XPC):c.1399C>T (p.Gln467Ter)
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter) rs767569346
NM_004628.5(XPC):c.1677C>G (p.Tyr559Ter) rs767569346
NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter) rs1695999145
NM_004628.5(XPC):c.1872+1G>C rs1559374923
NM_004628.5(XPC):c.1894C>T (p.Gln632Ter) rs3731139
NM_004628.5(XPC):c.2033+2T>G rs794729655
NM_004628.5(XPC):c.2126_2129del (p.Gly709fs) rs1574950526
NM_004628.5(XPC):c.2127del (p.Ser711fs) rs1695569595
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.2176_2192del (p.Glu726fs)
NM_004628.5(XPC):c.218_219insT (p.Lys73fs)
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs) rs1559369237
NM_004628.5(XPC):c.2250+1G>A
NM_004628.5(XPC):c.2262del (p.Asn754fs) rs786205206
NM_004628.5(XPC):c.2287del (p.Leu763fs) rs1553604559
NM_004628.5(XPC):c.342_343del (p.Ala116fs) rs1228981894
NM_004628.5(XPC):c.362del (p.Asp121fs)
NM_004628.5(XPC):c.395_398del (p.Asp132fs) rs1696563531
NM_004628.5(XPC):c.413-24A>G rs794729657
NM_004628.5(XPC):c.413-9T>A rs794729656
NM_004628.5(XPC):c.420_423del (p.Glu141fs) rs1330667099
NM_004628.5(XPC):c.445_446del (p.Glu149fs) rs1402162002
NM_004628.5(XPC):c.463C>T (p.Arg155Ter) rs755825264
NM_004628.5(XPC):c.524_525dup (p.Arg176fs) rs1696466639
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918
NM_004628.5(XPC):c.622-2A>G rs201940931
NM_004628.5(XPC):c.669_670del (p.Ile223fs) rs1696343406
NM_004628.5(XPC):c.779+1G>A rs975121308
NM_004628.5(XPC):c.958C>T (p.Gln320Ter) rs867461743
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004782.4(SNAP29):c.487dup (p.Ser163fs) rs387907363
NM_004782.4(SNAP29):c.622G>T (p.Glu208Ter) rs1064795236
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) rs397517042
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005144.5(HR):c.2541G>A (p.Trp847Ter) rs2131755289
NM_005144.5(HR):c.3407T>A (p.Val1136Asp) rs121434448
NM_005213.4(CSTA):c.256C>T (p.Gln86Ter) rs387906689
NM_005213.4(CSTA):c.67-2A>T rs398122804
NM_005220.3(DLX3):c.476G>T (p.Arg159Leu) rs1555617226
NM_005220.3(DLX3):c.534G>C (p.Gln178His) rs2144182867
NM_005220.3(DLX3):c.561_562del (p.Tyr188fs) rs387906406
NM_005220.3(DLX3):c.571_574del (p.Gly191fs) rs387906405
NM_005220.3(DLX3):c.574del (p.Glu192fs) rs1057518764
NM_005228.5(EGFR):c.1283G>A (p.Gly428Asp) rs606231253
NM_005228.5(EGFR):c.977G>T (p.Cys326Phe) rs886037891
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs) rs779091652
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs)
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter)
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs) rs772899497
NM_005236.3(ERCC4):c.2026G>T (p.Glu676Ter)
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter) rs774510191
NM_005236.3(ERCC4):c.2304_2307del (p.Thr770fs) rs869025184
NM_005236.3(ERCC4):c.307C>T (p.Gln103Ter)
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs) rs1419167361
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter) rs1355878901
NM_005236.3(ERCC4):c.663dup (p.Met222fs)
NM_005236.3(ERCC4):c.68del (p.Val23fs)
NM_005236.3(ERCC4):c.793-2A>G rs2032155264
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs)
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter)
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter)
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)
NM_005236.3(ERCC4):c.915del (p.Asn308fs) rs772432152
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)
NM_005333.5(HCCS):c.589C>T (p.Arg197Ter) rs121917888
NM_005333.5(HCCS):c.649C>T (p.Arg217Cys) rs121917889
NM_005343.4(HRAS):c.179G>T (p.Gly60Val) rs730880460
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005357.4(LIPE):c.1519_1520dup (p.Ser508fs)
NM_005357.4(LIPE):c.3103G>T (p.Glu1035Ter) rs766817317
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter) rs267607468
NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro) rs57052654
NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg) rs57052654
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys) rs60554162
NM_005554.4(KRT6A):c.1460-2A>C rs113369052
NM_005554.4(KRT6A):c.510CAA[2] (p.Asn172del) rs606231214
NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser) rs58556099
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys) rs59685571
NM_005554.4(KRT6A):c.520T>G (p.Phe174Val) rs28933087
NM_005554.4(KRT6A):c.521T>C (p.Phe174Ser) rs61145796
NM_005555.4(KRT6B):c.1406T>G (p.Leu469Arg) rs1592169234
NM_005555.4(KRT6B):c.1414G>A (p.Glu472Lys) rs60627726
NM_005555.4(KRT6B):c.510CAA[2] (p.Asn172del) rs267607472
NM_005557.4(KRT16):c.1244_1270delinsGGC (p.Ala415_Glu424delinsGlyGln) rs1555573633
NM_005557.4(KRT16):c.362T>C (p.Met121Thr) rs28928894
NM_005557.4(KRT16):c.365A>C (p.Gln122Pro) rs59349773
NM_005557.4(KRT16):c.371T>G (p.Leu124Arg) rs58293603
NM_005557.4(KRT16):c.373A>G (p.Asn125Asp) rs58608173
NM_005557.4(KRT16):c.373_374delinsGG (p.Asn125Gly) rs587777717
NM_005557.4(KRT16):c.374A>G (p.Asn125Ser) rs60723330
NM_005557.4(KRT16):c.379C>G (p.Arg127Gly) rs59856285
NM_005557.4(KRT16):c.380G>C (p.Arg127Pro) rs57424749
NM_005557.4(KRT16):c.383T>A (p.Leu128Gln) rs28928895
NM_005557.4(KRT16):c.386CCT[1] (p.Ser130del) rs58181827
NM_005557.4(KRT16):c.395T>C (p.Leu132Pro) rs60944949
NM_005562.3(LAMC2):c.1043del (p.Ile348fs) rs2102228301
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter) rs118203899
NM_005562.3(LAMC2):c.1066+1del rs2102228390
NM_005562.3(LAMC2):c.1335_1342dup (p.Gly448fs) rs2102231460
NM_005562.3(LAMC2):c.136C>T (p.Gln46Ter) rs2102196403
NM_005562.3(LAMC2):c.1650C>A (p.Cys550Ter) rs200783718
NM_005562.3(LAMC2):c.1659C>A (p.Cys553Ter) rs118203900
NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs) rs1553266871
NM_005562.3(LAMC2):c.2015-2A>G rs1659834817
NM_005562.3(LAMC2):c.2074C>T (p.Gln692Ter) rs1659836821
NM_005562.3(LAMC2):c.2137_2143del (p.Gln713fs) rs1558095794
NM_005562.3(LAMC2):c.2489dup (p.Leu830fs) rs774734592
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) rs80356683
NM_005562.3(LAMC2):c.3343_3344del (p.Val1115fs) rs1660171997
NM_005562.3(LAMC2):c.3365T>G (p.Leu1122Ter) rs1660173338
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter) rs201307156
NM_005562.3(LAMC2):c.3394dup (p.Thr1132fs)
NM_005562.3(LAMC2):c.343C>T (p.Arg115Ter) rs149930148
NM_005562.3(LAMC2):c.3451C>T (p.Gln1151Ter) rs2102258267
NM_005562.3(LAMC2):c.379G>T (p.Gly127Trp) rs779546941
NM_005562.3(LAMC2):c.404+3_404+6del rs1659229440
NM_005562.3(LAMC2):c.405-1G>A rs1558088792
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter) rs753268823
NM_005689.4(ABCB6):c.1067T>C (p.Leu356Pro) rs397514756
NM_005689.4(ABCB6):c.1663C>A (p.Gln555Lys) rs796065353
NM_005689.4(ABCB6):c.1736G>A (p.Gly579Glu) rs397514758
NM_005689.4(ABCB6):c.508A>G (p.Ser170Gly) rs397514757
NM_005857.5(ZMPSTE24):c.1018T>C (p.Trp340Arg) rs121908093
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005857.5(ZMPSTE24):c.1133_1137del (p.Gly377_Phe378insTer)
NM_005857.5(ZMPSTE24):c.1349G>A (p.Trp450Ter) rs281875376
NM_005857.5(ZMPSTE24):c.469C>T (p.Gln157Ter)
NM_005857.5(ZMPSTE24):c.691G>T (p.Glu231Ter) rs281875369
NM_005857.5(ZMPSTE24):c.743C>T (p.Pro248Leu) rs121908095
NM_006121.4(KRT1):c.1254+1G>A rs267607421
NM_006121.4(KRT1):c.1307C>A (p.Ala436Asp)
NM_006121.4(KRT1):c.1376_1399del (p.Ala459_Gln466del) rs60447237
NM_006121.4(KRT1):c.1424T>C (p.Leu475Pro) rs137853225
NM_006121.4(KRT1):c.1433A>G (p.Glu478Gly) rs2121000699
NM_006121.4(KRT1):c.1435A>T (p.Ile479Phe) rs61218439
NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr) rs57837128
NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys) rs58420087
NM_006121.4(KRT1):c.1556del (p.Gly519fs) rs58373389
NM_006121.4(KRT1):c.1577del (p.Gly526fs)
NM_006121.4(KRT1):c.1609_1610delinsA (p.Gly537fs) rs59169454
NM_006121.4(KRT1):c.1628del (p.Gly543fs) rs57650413
NM_006121.4(KRT1):c.1757dup (p.Tyr587fs)
NM_006121.4(KRT1):c.1860dup (p.Gly621fs)
NM_006121.4(KRT1):c.1865dup (p.Val623fs) rs1555171158
NM_006121.4(KRT1):c.221A>T (p.Lys74Ile) rs57977969
NM_006121.4(KRT1):c.464T>A (p.Val155Asp) rs57959072
NM_006121.4(KRT1):c.482T>C (p.Leu161Pro) rs57695159
NM_006121.4(KRT1):c.560T>C (p.Leu187Pro)
NM_006121.4(KRT1):c.563A>G (p.Asn188Ser) rs58928370
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys) rs59429455
NM_006121.4(KRT1):c.591+1G>C rs267607422
NM_006121.4(KRT1):c.591+2T>A rs267607424
NM_006121.4(KRT1):c.623T>C (p.Leu208Pro) rs61616632
NM_006121.4(KRT1):c.931G>C (p.Glu311Gln) rs137853224
NM_006218.3(PIK3CA):c.[1634A>C;1658_1659delGTinsC]
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.1066G>A (p.Val356Ile) rs587777793
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) rs1064793732
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg) rs1724507777
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) rs397514565
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1356AGA[1] (p.Glu453del) rs587776933
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.1895T>G (p.Leu632Ter) rs587777796
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.3062A>G (p.Tyr1021Cys) rs121913288
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) rs397517202
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3131A>G (p.Asn1044Ser) rs1064793838
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu) rs1057519933
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006218.4(PIK3CA):c.403G>A (p.Glu135Lys) rs587777791
NM_006218.4(PIK3CA):c.652G>A (p.Glu218Lys) rs587777792
NM_006363.6(SEC23B):c.1015C>T (p.Arg339Ter)
NM_006363.6(SEC23B):c.1079del (p.Leu360fs) rs1600244935
NM_006363.6(SEC23B):c.1129_1130del (p.Asp377fs)
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter) rs1403456625
NM_006363.6(SEC23B):c.1243del (p.Glu415fs)
NM_006363.6(SEC23B):c.1402C>T (p.Gln468Ter)
NM_006363.6(SEC23B):c.1660C>T (p.Arg554Ter)
NM_006363.6(SEC23B):c.1660del (p.Arg554fs)
NM_006363.6(SEC23B):c.1710dup (p.Arg571Ter)
NM_006363.6(SEC23B):c.1741C>T (p.Gln581Ter)
NM_006363.6(SEC23B):c.1831del (p.Arg611fs)
NM_006363.6(SEC23B):c.1909del (p.Val637fs)
NM_006363.6(SEC23B):c.1989dup (p.Glu664Ter)
NM_006363.6(SEC23B):c.2152C>T (p.Arg718Ter)
NM_006363.6(SEC23B):c.2190_2191dup (p.Asn731fs)
NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter)
NM_006363.6(SEC23B):c.2212C>T (p.Gln738Ter)
NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter)
NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter)
NM_006363.6(SEC23B):c.337del (p.Gln113fs)
NM_006363.6(SEC23B):c.490del (p.Val164fs)
NM_006363.6(SEC23B):c.545del (p.Gly182fs)
NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter)
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer) rs1555788144
NM_006363.6(SEC23B):c.584dup (p.Leu195fs)
NM_006363.6(SEC23B):c.592A>T (p.Lys198Ter)
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
NM_006363.6(SEC23B):c.689+1G>C
NM_006363.6(SEC23B):c.689+1G>T
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
NM_006363.6(SEC23B):c.816del (p.Ile272fs) rs1568606490
NM_006363.6(SEC23B):c.835-2A>G
NM_006363.6(SEC23B):c.873del (p.Phe291fs)
NM_006363.6(SEC23B):c.938G>A (p.Arg313His)
NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr)
NM_006363.6(SEC23B):c.983dup (p.Ala329fs)
NM_006412.3(AGPAT2):c.(316+1_317-1)_(588+1_589-1)del (p.Leu107AlafsTer279)
NM_006412.4(AGPAT2):c.313A>G (p.Met105Val) rs2119186288
NM_006412.4(AGPAT2):c.316+1G>T
NM_006412.4(AGPAT2):c.366_588+534del
NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs) rs1693228350
NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter) rs2131023956
NM_006412.4(AGPAT2):c.415TTC[1] (p.Phe140del) rs387906356
NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter) rs1057518714
NM_006412.4(AGPAT2):c.513del (p.Glu172fs) rs1564290914
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) rs748157664
NM_006412.4(AGPAT2):c.530_537dup (p.Asp180fs)
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs) rs1564290079
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter) rs121908925
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro) rs104894100
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter) rs1255380257
NM_006502.2(POLH):c.1075-?_1244+?del
NM_006502.3(POLH):c.106_118del (p.Val36fs) rs2127773185
NM_006502.3(POLH):c.1117C>T (p.Gln373Ter) rs121908564
NM_006502.3(POLH):c.222TCT[1] (p.Leu77del) rs1426687865
NM_006502.3(POLH):c.376C>T (p.Gln126Ter) rs121908563
NM_006502.3(POLH):c.499C>T (p.Arg167Ter)
NM_006502.3(POLH):c.54_57del (p.Val19fs) rs2127773120
NM_006502.3(POLH):c.638C>G (p.Ser213Ter) rs763654639
NM_006502.3(POLH):c.663_764+2del rs2127799895
NM_006502.3(POLH):c.916G>T (p.Glu306Ter) rs121908562
NM_006556.4(PMVK):c.550del (p.Asn183_Leu184insTer) rs879255607
NM_006579.3(EBP):c.141G>T (p.Trp47Cys) rs587783599
NM_006579.3(EBP):c.182G>A (p.Trp61Ter) rs587783600
NM_006579.3(EBP):c.187C>T (p.Arg63Ter) rs104894799
NM_006579.3(EBP):c.203G>A (p.Trp68Ter) rs2061771803
NM_006579.3(EBP):c.225dup (p.His76fs) rs797045543
NM_006579.3(EBP):c.238G>A (p.Glu80Lys) rs104894800
NM_006579.3(EBP):c.261C>G (p.Tyr87Ter) rs145509273
NM_006579.3(EBP):c.292_296del (p.Ser98fs) rs587783604
NM_006579.3(EBP):c.301+2T>A rs587783606
NM_006579.3(EBP):c.304A>T (p.Lys102Ter) rs587783608
NM_006579.3(EBP):c.310T>C (p.Tyr104His) rs587783609
NM_006579.3(EBP):c.312T>A (p.Tyr104Ter)
NM_006579.3(EBP):c.328C>T (p.Arg110Ter) rs587783613
NM_006579.3(EBP):c.329G>A (p.Arg110Gln) rs1602090481
NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter) rs797045544
NM_006579.3(EBP):c.338+1G>C rs1569479885
NM_006579.3(EBP):c.338+1G>T rs1569479885
NM_006579.3(EBP):c.386G>A (p.Trp129Ter) rs104894792
NM_006579.3(EBP):c.390del (p.Pro131fs) rs1569479901
NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs) rs797045546
NM_006579.3(EBP):c.440G>A (p.Arg147His) rs28935174
NM_006579.3(EBP):c.464_465del (p.Ser155fs) rs587783615
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter) rs587783616
NM_006579.3(EBP):c.484dup (p.Asp162fs) rs797045547
NM_006579.3(EBP):c.506_507del (p.Glu169fs) rs1602091152
NM_006579.3(EBP):c.523C>T (p.Gln175Ter) rs104894793
NM_006579.3(EBP):c.586_587insA (p.Trp196Ter) rs1569480016
NM_006579.3(EBP):c.587G>A (p.Trp196Ter) rs104894794
NM_006579.3(EBP):c.87G>A (p.Trp29Ter) rs104894798
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) rs1555412542
NM_006767.3:c.(?_-1)_(*1_?)del
NM_006767.4(LZTR1):c.1149+1G>T
NM_006767.4(LZTR1):c.11dup (p.Ser6fs) rs1369717076
NM_006767.4(LZTR1):c.1373dup (p.His459fs) rs1924703709
NM_006767.4(LZTR1):c.1496_1590dup (p.Asp531fs) rs1924717764
NM_006767.4(LZTR1):c.1753_1754del (p.Ser585fs)
NM_006767.4(LZTR1):c.1893del (p.Lys632fs)
NM_006767.4(LZTR1):c.2258del (p.Asn753fs)
NM_006767.4(LZTR1):c.2269C>T (p.Gln757Ter)
NM_006767.4(LZTR1):c.2325+1G>A
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs) rs587777179
NM_006767.4(LZTR1):c.238dup (p.Ile80fs)
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.27dup (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.320+1del rs1569153870
NM_006767.4(LZTR1):c.352dup (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.401-1G>A
NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter) rs1569154722
NM_006767.4(LZTR1):c.495G>A (p.Trp165Ter)
NM_006767.4(LZTR1):c.604_605del (p.Met202fs)
NM_006767.4(LZTR1):c.714_783dup (p.Asp262delinsGlnAspValCysIleLeuTrpAlaLysArgSerGlnAsnAsnGlnGlnProLeuProValTer) rs1924566447
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.791+1G>A rs148031742
NM_006767.4(LZTR1):c.791+1G>C rs148031742
NM_006767.4(LZTR1):c.824_921dup (p.Pro308fs) rs1924610101
NM_006767.4(LZTR1):c.842del (p.Pro281fs) rs1419091884
NM_006767.4(LZTR1):c.978_985del (p.Ser327fs)
NM_006767.4(LZTR1):c.993+1G>T rs770368435
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter) rs924297783
NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter) rs1394583450
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.4(SPINK5):c.1233del (p.Glu412fs) rs2113120213
NM_006846.4(SPINK5):c.1242_1246del (p.Lys415fs) rs2113120242
NM_006846.4(SPINK5):c.1339G>T (p.Gly447Ter)
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006846.4(SPINK5):c.1437del (p.Glu480fs) rs1554104853
NM_006846.4(SPINK5):c.1525dup (p.Ile509fs)
NM_006846.4(SPINK5):c.153del (p.Gln52fs) rs1752706120
NM_006846.4(SPINK5):c.1732C>T (p.Arg578Ter) rs201674667
NM_006846.4(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.4(SPINK5):c.1825C>T (p.Gln609Ter) rs1366194827
NM_006846.4(SPINK5):c.1915_1916del (p.Leu639fs) rs1581096271
NM_006846.4(SPINK5):c.2038_2039del (p.Lys680fs) rs2113177526
NM_006846.4(SPINK5):c.2038_2041del (p.Lys680fs)
NM_006846.4(SPINK5):c.2039_2049del (p.Lys680fs)
NM_006846.4(SPINK5):c.2098G>T (p.Gly700Ter)
NM_006846.4(SPINK5):c.211G>T (p.Glu71Ter)
NM_006846.4(SPINK5):c.216del (p.Glu73fs)
NM_006846.4(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006846.4(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.4(SPINK5):c.2423_2425del (p.Thr808del)
NM_006846.4(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
NM_006846.4(SPINK5):c.2472del (p.Glu825fs) rs2113195147
NM_006846.4(SPINK5):c.2483del (p.Asp828fs)
NM_006846.4(SPINK5):c.2579del (p.Lys860fs) rs1362009010
NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter) rs1340491788
NM_006846.4(SPINK5):c.2622T>A (p.Tyr874Ter) rs1057520643
NM_006846.4(SPINK5):c.2671C>T (p.Arg891Ter) rs749828824
NM_006846.4(SPINK5):c.283-2A>T rs587777749
NM_006846.4(SPINK5):c.2847_2851dup (p.Met951fs)
NM_006846.4(SPINK5):c.2870del (p.Leu957fs)
NM_006846.4(SPINK5):c.2953_2954del (p.Phe985fs) rs1754451124
NM_006846.4(SPINK5):c.316_317del (p.Asp106fs) rs763649250
NM_006846.4(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.4(SPINK5):c.355_371delinsGACAACATATGACAACAGATGAC (p.Cys119_Lys124delinsAspAsnIleTer) rs1581064755
NM_006846.4(SPINK5):c.45C>A (p.Cys15Ter)
NM_006846.4(SPINK5):c.478del (p.Val160fs)
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.4(SPINK5):c.666+1G>T
NM_006846.4(SPINK5):c.679G>T (p.Glu227Ter) rs1480221716
NM_006846.4(SPINK5):c.690del (p.Lys230fs) rs1561684604
NM_006846.4(SPINK5):c.695_696del (p.Val232fs)
NM_006846.4(SPINK5):c.829_830del (p.Asp277fs)
NM_006846.4(SPINK5):c.850del (p.Glu284fs) rs1581074967
NM_006846.4(SPINK5):c.882+1_882+3del rs750225476
NM_006846.4(SPINK5):c.995del (p.Met332fs) rs1561686960
NM_006978.3(RNF113A):c.897_898del (p.Cys299_Asp300delinsTer) rs2056406264
NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter) rs794726863
NM_006978.3(RNF113A):c.903_910del (p.Gln302fs) rs1603374549
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) rs1564620047
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) rs1564617848
NM_007055.4(POLR3A):c.3337-1G>A rs1041175828
NM_007055.4(POLR3A):c.3839dup (p.Met1280fs) rs2131926804
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) rs768222183
NM_007055.4(POLR3A):c.490+1G>A rs1564623882
NM_007055.4(POLR3A):c.[1909+22G>A;3337-11T>C]
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007315.4(STAT1):c.1151G>A (p.Gly384Asp) rs796065052
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_007315.4(STAT1):c.1159A>G (p.Thr387Ala)
NM_007315.4(STAT1):c.1162A>C (p.Lys388Gln) rs1559011859
NM_007315.4(STAT1):c.1162A>G (p.Lys388Glu)
NM_007315.4(STAT1):c.1165G>C (p.Val389Leu) rs1574648928
NM_007315.4(STAT1):c.1231_1232del (p.Glu411fs) rs2125029430
NM_007315.4(STAT1):c.1286_1287del (p.Glu429fs)
NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile) rs1692619276
NM_007315.4(STAT1):c.1398C>A (p.Ser466Arg) rs763759889
NM_007315.4(STAT1):c.1398C>G (p.Ser466Arg)
NM_007315.4(STAT1):c.1999_2000del (p.Leu667fs) rs2125000306
NM_007315.4(STAT1):c.200A>C (p.Gln67Pro)
NM_007315.4(STAT1):c.25C>T (p.Gln9Ter)
NM_007315.4(STAT1):c.493G>C (p.Asp165His) rs387906767
NM_007315.4(STAT1):c.494A>G (p.Asp165Gly) rs387906764
NM_007315.4(STAT1):c.508T>A (p.Tyr170Asn) rs387906766
NM_007315.4(STAT1):c.520T>C (p.Cys174Arg) rs387906763
NM_007315.4(STAT1):c.537C>A (p.Asn179Lys) rs587777628
NM_007315.4(STAT1):c.604A>G (p.Met202Val) rs387906762
NM_007315.4(STAT1):c.606G>A (p.Met202Ile) rs1559019204
NM_007315.4(STAT1):c.71_74dup (p.Ser25fs) rs1382612689
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_007315.4(STAT1):c.802G>T (p.Glu268Ter) rs2125062900
NM_007315.4(STAT1):c.812A>C (p.Gln271Pro) rs387906768
NM_007315.4(STAT1):c.820C>G (p.Arg274Gly) rs387906758
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln) rs387906760
NM_007315.4(STAT1):c.832A>G (p.Lys278Glu) rs863223398
NM_007315.4(STAT1):c.854A>G (p.Gln285Arg) rs587777629
NM_007315.4(STAT1):c.857A>T (p.Lys286Ile) rs387906761
NM_007315.4(STAT1):c.861C>G (p.Tyr287Ter)
NM_007315.4(STAT1):c.862A>G (p.Thr288Ala) rs387906765
NM_007315.4(STAT1):c.863C>T (p.Thr288Ile) rs1693751220
NM_007315.4(STAT1):c.866A>G (p.Tyr289Cys) rs1553496850
NM_007315.4(STAT1):c.884C>A (p.Thr295Lys) rs2125062092
NM_007315.4(STAT1):c.961A>G (p.Arg321Gly)
NM_012114.3(CASP14):c.462_463del (p.Asp154fs) rs769277893
NM_012232.6(CAVIN1):c.135del (p.Lys45fs) rs1567782493
NM_012232.6(CAVIN1):c.141_148del (p.Asp47fs)
NM_012232.6(CAVIN1):c.160del (p.Val54fs) rs1567782465
NM_012232.6(CAVIN1):c.259C>T (p.Gln87Ter)
NM_012232.6(CAVIN1):c.471+1G>T rs866504928
NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs) rs1567776514
NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs) rs1207466199
NM_012232.6(CAVIN1):c.526del (p.Glu176fs) rs1567776490
NM_012232.6(CAVIN1):c.696dup (p.Lys233fs) rs1427062799
NM_012275.3(IL36RN):c.184C>T (p.Gln62Ter)
NM_012275.3(IL36RN):c.368C>G (p.Thr123Arg) rs397514629
NM_012275.3(IL36RN):c.420_426del (p.Gly141fs)
NM_012388.4(BLOC1S6):c.148G>T (p.Glu50Ter)
NM_012388.4(BLOC1S6):c.157del (p.Ala53fs)
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.203_207del (p.Lys68fs)
NM_012388.4(BLOC1S6):c.245T>A (p.Leu82Ter)
NM_012388.4(BLOC1S6):c.261dup (p.Glu88fs)
NM_012388.4(BLOC1S6):c.285_286dup (p.His96fs)
NM_012388.4(BLOC1S6):c.296T>A (p.Leu99Ter)
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_012388.4(BLOC1S6):c.33_34del (p.Ala12fs)
NM_012388.4(BLOC1S6):c.351dup (p.Ile118fs)
NM_012388.4(BLOC1S6):c.7_22dup (p.Ser8fs)
NM_012388.4(BLOC1S6):c.88del (p.Ser30fs)
NM_012388.4(BLOC1S6):c.89del (p.Ser30fs)
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) rs1956563926
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del rs367543007
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs) rs1220385043
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) rs1566294545
NM_012463.4(ATP6V0A2):c.294+1G>A rs80356751
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) rs1956462432
NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys) rs1553253990
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) rs1553253989
NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr) rs199718602
NM_014112.5(TRPS1):c.1014_1017dup (p.Gln340fs) rs1563638577
NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter) rs121908430
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter) rs1554596393
NM_014112.5(TRPS1):c.1176_1179del (p.Asn393fs) rs1817997640
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter) rs1554596328
NM_014112.5(TRPS1):c.1180A>T (p.Lys394Ter) rs1368938675
NM_014112.5(TRPS1):c.1229G>A (p.Trp410Ter)
NM_014112.5(TRPS1):c.1373C>A (p.Ser458Ter)
NM_014112.5(TRPS1):c.1382C>G (p.Ser461Ter) rs2130493114
NM_014112.5(TRPS1):c.1387A>T (p.Lys463Ter) rs2130493086
NM_014112.5(TRPS1):c.1402del (p.Tyr468fs) rs2130493020
NM_014112.5(TRPS1):c.1408_1409del (p.Lys470fs)
NM_014112.5(TRPS1):c.1427dup (p.Ser477fs) rs1817988877
NM_014112.5(TRPS1):c.1488del (p.Asn497fs)
NM_014112.5(TRPS1):c.1505del (p.Ser502fs) rs2130492512
NM_014112.5(TRPS1):c.1512_1522del (p.Glu504fs)
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.1646_1649dup (p.Pro551fs) rs2130491759
NM_014112.5(TRPS1):c.1649_1650del (p.Gly550fs) rs1554596063
NM_014112.5(TRPS1):c.1690C>T (p.Gln564Ter) rs755557039
NM_014112.5(TRPS1):c.1693C>T (p.Gln565Ter) rs864621974
NM_014112.5(TRPS1):c.1695_1705del (p.Gln565fs) rs1563637033
NM_014112.5(TRPS1):c.1777G>T (p.Glu593Ter) rs2130491235
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) rs121908431
NM_014112.5(TRPS1):c.1898C>A (p.Ser633Ter)
NM_014112.5(TRPS1):c.1911del (p.Asp638fs) rs2130490634
NM_014112.5(TRPS1):c.1942del (p.Ser648fs)
NM_014112.5(TRPS1):c.2049del (p.Lys683fs)
NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter) rs368166434
NM_014112.5(TRPS1):c.2090dup (p.His697fs) rs2130489877
NM_014112.5(TRPS1):c.2110del (p.Cys704fs) rs1586431903
NM_014112.5(TRPS1):c.2152C>T (p.Gln718Ter) rs2130445981
NM_014112.5(TRPS1):c.2188C>T (p.Gln730Ter) rs2130445833
NM_014112.5(TRPS1):c.2194C>T (p.Gln732Ter) rs2130445786
NM_014112.5(TRPS1):c.2195_2204del (p.Gln732fs) rs1554593085
NM_014112.5(TRPS1):c.2300_2301del (p.Asp766_Ser767insTer) rs2130445285
NM_014112.5(TRPS1):c.2343_2344del (p.Lys782fs) rs1586431452
NM_014112.5(TRPS1):c.2381G>A (p.Trp794Ter)
NM_014112.5(TRPS1):c.2389_2390dup (p.Ser797fs)
NM_014112.5(TRPS1):c.2445dup (p.Ser816fs) rs2130444636
NM_014112.5(TRPS1):c.2453C>A (p.Ser818Ter) rs2130444603
NM_014112.5(TRPS1):c.2480dup (p.Thr828fs) rs2130444402
NM_014112.5(TRPS1):c.2500C>T (p.Gln834Ter)
NM_014112.5(TRPS1):c.2506C>T (p.Gln836Ter)
NM_014112.5(TRPS1):c.2518_2519del (p.Leu840fs) rs2130444163
NM_014112.5(TRPS1):c.2532del (p.Asn845fs)
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter) rs121908432
NM_014112.5(TRPS1):c.2568T>G (p.Tyr856Ter) rs1563623987
NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter) rs1156330285
NM_014112.5(TRPS1):c.2657C>A (p.Ser886Ter) rs142472404
NM_014112.5(TRPS1):c.2666del (p.Asn889fs) rs1586430715
NM_014112.5(TRPS1):c.2700+1G>A rs1586430684
NM_014112.5(TRPS1):c.2725dup (p.Cys909fs) rs1554617582
NM_014112.5(TRPS1):c.2738dup (p.Thr914fs)
NM_014112.5(TRPS1):c.2757_2758del (p.Trp920fs) rs2129768973
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter) rs751565386
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln) rs121908435
NM_014112.5(TRPS1):c.2786T>G (p.Val929Gly) rs2129768696
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) rs1057518972
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val) rs121908436
NM_014112.5(TRPS1):c.2808C>G (p.Tyr936Ter)
NM_014112.5(TRPS1):c.2829del (p.Arg944fs) rs2129752164
NM_014112.5(TRPS1):c.2866C>T (p.Gln956Ter)
NM_014112.5(TRPS1):c.2880del (p.Arg961fs) rs1586250578
NM_014112.5(TRPS1):c.2892_2899dup (p.Asn967fs) rs1563714392
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys) rs28939069
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His) rs28939070
NM_014112.5(TRPS1):c.2927_2931del (p.Leu976fs) rs2129751330
NM_014112.5(TRPS1):c.2941_2942del (p.Arg981fs)
NM_014112.5(TRPS1):c.2956_2960dup (p.Val988fs) rs1812880824
NM_014112.5(TRPS1):c.2981_2984del (p.Glu994fs) rs1554617011
NM_014112.5(TRPS1):c.3010dup (p.Ser1004fs)
NM_014112.5(TRPS1):c.3229A>T (p.Arg1077Ter)
NM_014112.5(TRPS1):c.3248del (p.Lys1083fs) rs2129749121
NM_014112.5(TRPS1):c.3268_3275del (p.His1090fs) rs2129748972
NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter) rs121908434
NM_014112.5(TRPS1):c.3400_3401insGAGG (p.Val1134fs) rs2129748003
NM_014112.5(TRPS1):c.3461dup (p.Tyr1154Ter) rs1812863711
NM_014112.5(TRPS1):c.3556_3559dup (p.Gly1187fs)
NM_014112.5(TRPS1):c.3659del (p.Arg1220fs)
NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr) rs1586249260
NM_014112.5(TRPS1):c.390del (p.Ala131fs)
NM_014112.5(TRPS1):c.489_492del (p.Glu165fs) rs1586464368
NM_014112.5(TRPS1):c.54dup (p.Asn19fs)
NM_014112.5(TRPS1):c.596del (p.Asn199fs) rs2130531960
NM_014112.5(TRPS1):c.612_615dup (p.Gly206fs) rs2130531887
NM_014112.5(TRPS1):c.697C>T (p.Gln233Ter)
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_014112.5(TRPS1):c.801del (p.Arg268fs)
NM_014112.5(TRPS1):c.877C>T (p.Gln293Ter)
NM_014112.5(TRPS1):c.913C>T (p.Gln305Ter) rs1297221126
NM_014112.5(TRPS1):c.964C>T (p.Gln322Ter) rs2130530613
NM_014171.5(CRIPT):c.-422_17-582del
NM_014171.6(CRIPT):c.132del (p.Ala45fs) rs771238795
NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs) rs587779356
NM_014171.6(CRIPT):c.141del (p.Phe47fs) rs587779348
NM_014171.6(CRIPT):c.227G>A (p.Cys76Tyr)
NM_014171.6(CRIPT):c.7_8del (p.Cys3fs)
NM_014268.4(MAPRE2):c.203A>G (p.Asn68Ser) rs864309719
NM_014268.4(MAPRE2):c.260A>G (p.Tyr87Cys) rs864309717
NM_014268.4(MAPRE2):c.427C>T (p.Arg143Cys) rs864309720
NM_014268.4(MAPRE2):c.454C>T (p.Gln152Ter) rs864309718
NM_014339.7(IL17RA):c.1159G>A (p.Asp387Asn) rs1057519079
NM_014339.7(IL17RA):c.1302_1318dup (p.Asn440fs) rs1057518744
NM_014339.7(IL17RA):c.166_169dup (p.Cys57fs) rs1601340933
NM_014339.7(IL17RA):c.185G>A (p.Trp62Ter)
NM_014339.7(IL17RA):c.196C>T (p.Arg66Ter) rs1057518745
NM_014339.7(IL17RA):c.205del (p.Thr69fs)
NM_014339.7(IL17RA):c.213dup (p.Ser72fs) rs2123798029
NM_014339.7(IL17RA):c.233del (p.Ile78fs) rs1321690789
NM_014339.7(IL17RA):c.268del (p.Leu90fs) rs1057518746
NM_014339.7(IL17RA):c.680_681insG (p.Thr228fs)
NM_014339.7(IL17RA):c.705del (p.Ser236fs)
NM_014339.7(IL17RA):c.769_773del (p.Pro257fs) rs1057518747
NM_014339.7(IL17RA):c.787C>T (p.Arg263Ter) rs778624945
NM_014339.7(IL17RA):c.850C>T (p.Gln284Ter) rs387906913
NM_014714.4(IFT140):c.3454-488_4182+2588dup
NM_014908.4(DOLK):c.1222C>G (p.His408Asp) rs387907030
NM_014908.4(DOLK):c.1322A>C (p.Tyr441Ser) rs137853110
NM_014908.4(DOLK):c.1342G>C (p.Gly448Arg)
NM_014908.4(DOLK):c.295T>A (p.Cys99Ser) rs137853109
NM_014908.4(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_014908.4(DOLK):c.3G>A (p.Met1Ile) rs1564546510
NM_014908.4(DOLK):c.912G>T (p.Trp304Cys) rs1564545929
NM_014920.5(CILK1):c.1664_1665del (p.Tyr555fs)
NM_015065.3(EXPH5):c.1395del (p.Phe466fs) rs2135927905
NM_015065.3(EXPH5):c.1947dup (p.Thr650fs) rs2135924347
NM_015065.3(EXPH5):c.2542del (p.His848fs) rs2135920313
NM_015065.3(EXPH5):c.2897del (p.Pro966fs) rs1305450457
NM_015065.3(EXPH5):c.3650T>A (p.Leu1217Ter) rs2135912697
NM_015065.3(EXPH5):c.3917C>G (p.Ser1306Ter) rs1228319313
NM_015065.3(EXPH5):c.4917C>A (p.Cys1639Ter) rs763170220
NM_015065.3(EXPH5):c.5422C>T (p.Arg1808Ter)
NM_015065.3(EXPH5):c.5786del (p.Pro1929fs) rs749309384
NM_015278.5(SASH1):c.1519T>G (p.Ser507Ala) rs1562489143
NM_015278.5(SASH1):c.1525G>A (p.Glu509Lys) rs1562489156
NM_015278.5(SASH1):c.1527_1530dup (p.Leu511fs) rs1562489165
NM_015278.5(SASH1):c.1537A>C (p.Ser513Arg) rs1237876014
NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro) rs1562489224
NM_015278.5(SASH1):c.1556G>A (p.Ser519Asn) rs1562489240
NM_015278.5(SASH1):c.1651T>C (p.Tyr551His) rs1562490566
NM_015278.5(SASH1):c.1651T>G (p.Tyr551Asp) rs1562490566
NM_015278.5(SASH1):c.1784T>C (p.Met595Thr) rs1562491501
NM_015331.3(NCSTN):c.1101+1G>A rs1347055289
NM_015331.3(NCSTN):c.1101_1101+17delinsTGTCCA
NM_015331.3(NCSTN):c.1285C>T (p.Arg429Ter) rs771414318
NM_015331.3(NCSTN):c.1300C>T (p.Arg434Ter) rs1085307081
NM_015331.3(NCSTN):c.1551+1G>A rs1553210984
NM_015331.3(NCSTN):c.1752del (p.Glu584fs) rs1553211087
NM_015331.3(NCSTN):c.349C>T (p.Arg117Ter) rs387906896
NM_015331.3(NCSTN):c.97G>A (p.Gly33Arg) rs2101889658
NM_015352.2(POFUT1):c.246+5del
NM_015352.2(POFUT1):c.289C>T (p.Gln97Ter) rs1569152303
NM_015352.2(POFUT1):c.430G>T (p.Glu144Ter) rs398123038
NM_015352.2(POFUT1):c.482del (p.Lys161fs) rs886041033
NM_015352.2(POFUT1):c.889_890del (p.Trp297fs) rs2122601454
NM_015559.3(SETBP1):c.1821del (p.Ser608fs) rs797045952
NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) rs606231272
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) rs606231273
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala) rs267607041
NM_015559.3(SETBP1):c.2607C>G (p.Ser869Arg)
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015559.3(SETBP1):c.2608G>T (p.Gly870Cys)
NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp) rs267607039
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) rs267607038
NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His) rs122468178
NM_015884.4(MBTPS2):c.1391T>C (p.Phe464Ser) rs587777306
NM_015884.4(MBTPS2):c.1424T>C (p.Phe475Ser) rs122468179
NM_015884.4(MBTPS2):c.1523A>G (p.Asn508Ser) rs587776867
NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile) rs122468177
NM_015884.4(MBTPS2):c.671-9T>G rs587777305
NM_015884.4(MBTPS2):c.677G>T (p.Trp226Leu) rs122468180
NM_015884.4(MBTPS2):c.680A>T (p.His227Leu) rs122468176
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) rs797045835
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) rs104894905
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) rs104894904
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter) rs104894902
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter) rs141571609
NM_015922.3(NSDHL):c.904del (p.Tyr302fs) rs587784225
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter) rs587784226
NM_015932.6(POMP):c.334_335del (p.Ile112fs) rs1555257073
NM_016004.5(IFT52):c.556A>G (p.Thr186Ala) rs1983651325
NM_016004.5(IFT52):c.695_699delinsCA (p.Ile232_Met233delinsThr) rs1984074001
NM_016004.5(IFT52):c.878del (p.Leu293fs) rs886037870
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1121del (p.Leu374fs) rs730880271
NM_016180.5(SLC45A2):c.113A>G (p.His38Arg)
NM_016180.5(SLC45A2):c.1266C>G (p.Tyr422Ter)
NM_016180.5(SLC45A2):c.1273del (p.Leu425fs) rs759411189
NM_016180.5(SLC45A2):c.1368+1G>T rs1294369944
NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)
NM_016180.5(SLC45A2):c.163dup (p.Tyr55fs) rs1057518722
NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter) rs562624441
NM_016180.5(SLC45A2):c.386-1G>A rs1753106609
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn) rs121912621
NM_016180.5(SLC45A2):c.478G>C (p.Asp160His) rs760780597
NM_016180.5(SLC45A2):c.563-1G>A rs730880270
NM_016180.5(SLC45A2):c.656TCT[2] (p.Phe221del) rs387906318
NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter) rs116887602
NM_016180.5(SLC45A2):c.986del (p.Thr329fs) rs387906317
NM_017410.2(HOXC13):c.-24497_736+2389del
NM_017410.3(HOXC13):c.355del (p.Leu119fs) rs398122377
NM_017410.3(HOXC13):c.390C>A (p.Tyr130Ter) rs398122913
NM_017636.4(TRPM4):c.3099C>G (p.Ile1033Met) rs1278993777
NM_017636.4(TRPM4):c.3119T>C (p.Ile1040Thr) rs1369949906
NM_017644.3(KLHL24):c.1A>G (p.Met1Val) rs886037956
NM_017644.3(KLHL24):c.2T>C (p.Met1Thr) rs1057515580
NM_017644.3(KLHL24):c.3G>A (p.Met1Ile) rs886037957
NM_017644.3(KLHL24):c.3G>C (p.Met1Ile) rs886037957
NM_017644.3(KLHL24):c.3G>T (p.Met1Ile) rs886037957
NM_017671.4(FERMT1):c.0_-19+470del
NM_017671.4:c.676insC
NM_017671.5(FERMT1):c.1198T>C (p.Ser400Pro) rs869312718
NM_017671.5(FERMT1):c.1264+1G>A rs1982268239
NM_017671.5(FERMT1):c.1264+363_1372-602del
NM_017671.5(FERMT1):c.1371+4A>G rs1064793979
NM_017671.5(FERMT1):c.1378C>T (p.Gln460Ter) rs1982142302
NM_017671.5(FERMT1):c.1648G>T (p.Glu550Ter)
NM_017671.5(FERMT1):c.1714_1715insA (p.Val572fs) rs1568654138
NM_017671.5(FERMT1):c.1861-1G>A rs779915885
NM_017671.5(FERMT1):c.1867_1869del (p.Ile623del) rs869312721
NM_017671.5(FERMT1):c.277C>T (p.Gln93Ter)
NM_017671.5(FERMT1):c.341C>G (p.Ser114Ter) rs1983080839
NM_017671.5(FERMT1):c.35G>A (p.Trp12Ter)
NM_017671.5(FERMT1):c.385+2T>C rs1411462678
NM_017671.5(FERMT1):c.464del (p.Asn155fs) rs1568664492
NM_017671.5(FERMT1):c.676dup (p.Gln226fs) rs748240859
NM_017671.5(FERMT1):c.787C>T (p.Gln263Ter) rs121918292
NM_017671.5(FERMT1):c.850-272_1139+53del
NM_017671.5(FERMT1):c.936del (p.Met312fs)
NM_017671.5(FERMT1):c.994C>T (p.Gln332Ter) rs2123118335
NM_017671.5:c.892_893insALU
NM_017838.4(NHP2):c.376G>A (p.Val126Met) rs121908090
NM_017838.4(NHP2):c.415T>C (p.Tyr139His) rs121908089
NM_017838.4(NHP2):c.460T>A (p.Ter154Arg) rs121908091
NM_018344.6(SLC29A3):c.101_104dup (p.Leu36fs) rs2131796660
NM_018344.6(SLC29A3):c.1045del (p.Leu349fs) rs869025176
NM_018344.6(SLC29A3):c.1077_1084del (p.Asp359fs)
NM_018344.6(SLC29A3):c.122del (p.Pro41fs) rs749946303
NM_018344.6(SLC29A3):c.1294del (p.Leu432fs)
NM_018344.6(SLC29A3):c.1295del (p.Leu432fs)
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) rs267607056
NM_018344.6(SLC29A3):c.1346C>G (p.Thr449Arg) rs267607058
NM_018344.6(SLC29A3):c.139G>T (p.Glu47Ter) rs377762611
NM_018344.6(SLC29A3):c.243del (p.Lys81fs) rs1589220231
NM_018344.6(SLC29A3):c.269_275del (p.Thr90fs) rs1223982382
NM_018344.6(SLC29A3):c.300+2T>C rs2131797156
NM_018344.6(SLC29A3):c.308_309del (p.Tyr102_Phe103insTer) rs796052139
NM_018344.6(SLC29A3):c.382_383del (p.Arg128fs)
NM_018344.6(SLC29A3):c.443del (p.Val148fs) rs2131839011
NM_018344.6(SLC29A3):c.479G>A (p.Trp160Ter) rs776960135
NM_018344.6(SLC29A3):c.59_60dup (p.Ser21fs)
NM_018344.6(SLC29A3):c.67_70del (p.Leu24fs)
NM_018344.6(SLC29A3):c.777C>A (p.Tyr259Ter)
NM_018344.6(SLC29A3):c.919dup (p.Ser307fs)
NM_018344.6(SLC29A3):c.940del (p.Tyr314fs) rs869025177
NM_018344.6(SLC29A3):c.963del (p.Ile322fs) rs2131851477
NM_018344.6(SLC29A3):c.984del (p.Asn329fs) rs1415833135
NM_018648.4(NOP10):c.100C>T (p.Arg34Trp) rs121908092
NM_020127.3(TUFT1):c.564del (p.Gln189fs)
NM_020127.3(TUFT1):c.60+1G>A
NM_020159.5(SMARCAD1):c.1281+649_1281+666del rs1560542180
NM_020159.5(SMARCAD1):c.1281+665G>A rs1057519613
NM_020159.5(SMARCAD1):c.1281+665G>T rs1057519613
NM_020159.5(SMARCAD1):c.1281+666T>C rs1114167276
NM_020159.5(SMARCAD1):c.1281+666dup rs1560542214
NM_020159.5(SMARCAD1):c.1281+667A>T rs895436485
NM_020159.5(SMARCAD1):c.1281+669G>C rs1114167277
NM_020427.3(SLURP1):c.178+1G>A rs587776602
NM_020427.3(SLURP1):c.1A>C (p.Met1Leu) rs28937889
NM_020427.3(SLURP1):c.211C>T (p.Arg71Cys)
NM_020427.3(SLURP1):c.229T>C (p.Cys77Arg) rs121908319
NM_020427.3(SLURP1):c.243C>A (p.Asp81Glu)
NM_020427.3(SLURP1):c.256G>C (p.Gly86Arg) rs28937888
NM_020427.3(SLURP1):c.286C>T (p.Arg96Ter) rs121908317
NM_020529.3(NFKBIA):c.101T>C (p.Leu34Pro)
NM_020529.3(NFKBIA):c.107C>A (p.Ser36Tyr) rs1566591076
NM_020529.3(NFKBIA):c.110T>A (p.Met37Lys) rs1566591073
NM_020529.3(NFKBIA):c.110T>G (p.Met37Arg) rs1566591073
NM_020529.3(NFKBIA):c.28G>T (p.Glu10Ter)
NM_020529.3(NFKBIA):c.32G>A (p.Trp11Ter) rs121913664
NM_020529.3(NFKBIA):c.40G>T (p.Glu14Ter) rs121913665
NM_020529.3(NFKBIA):c.94A>G (p.Ser32Gly) rs1566591086
NM_020529.3(NFKBIA):c.95G>A (p.Ser32Asn) rs28933100
NM_020529.3(NFKBIA):c.95G>T (p.Ser32Ile) rs28933100
NM_020529.3(NFKBIA):c.96C>G (p.Ser32Arg) rs1566591082
NM_020639.3(RIPK4):c.1074dup (p.Glu359Ter) rs1569100177
NM_020639.3(RIPK4):c.1127C>A (p.Ser376Ter) rs387906921
NM_020639.3(RIPK4):c.242T>A (p.Ile81Asn) rs387906922
NM_020639.3(RIPK4):c.362T>A (p.Ile121Asn) rs387906923
NM_020639.3(RIPK4):c.777dup (p.Arg260fs)
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020751.3(COG6):c.252del (p.Ala85fs) rs2137942150
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
NM_020779.4(WDR35):c.1322G>A (p.Trp441Ter)
NM_020779.4(WDR35):c.1554C>G (p.Tyr518Ter)
NM_020779.4(WDR35):c.1609C>T (p.Gln537Ter)
NM_020779.4(WDR35):c.171_178del (p.Ser59fs)
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly) rs267607174
NM_020779.4(WDR35):c.1954_1955insAAAC (p.Leu652fs) rs2103406171
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.2638dup (p.Thr880fs) rs2103399754
NM_020779.4(WDR35):c.2701G>T (p.Glu901Ter)
NM_020779.4(WDR35):c.2858del (p.Pro953fs) rs397515334
NM_020779.4(WDR35):c.2976del (p.Leu993fs) rs1490771127
NM_020779.4(WDR35):c.297del (p.Met99fs) rs867715686
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr) rs1553316264
NM_020779.4(WDR35):c.3426G>T (p.Trp1142Cys) rs1553313859
NM_020894.4(UVSSA):c.87del (p.Ile31fs) rs778975867
NM_021101.5(CLDN1):c.141C>A (p.Tyr47Ter) rs773766654
NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer) rs864309516
NM_021101.5(CLDN1):c.358del (p.Val120fs) rs864309517
NM_021628.2:c.435-?_554+?del
NM_021628.3(ALOXE3):c.1031_1039del (p.Gln344_Ala347delinsPro) rs1979966591
NM_021628.3(ALOXE3):c.1061G>A (p.Trp354Ter) rs767046669
NM_021628.3(ALOXE3):c.1164G>T (p.Trp388Cys) rs1979931284
NM_021628.3(ALOXE3):c.1186C>A (p.Arg396Ser) rs121434234
NM_021628.3(ALOXE3):c.1193C>T (p.Ser398Phe) rs1979924544
NM_021628.3(ALOXE3):c.1202T>A (p.Leu401Gln) rs761241768
NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg) rs1296095311
NM_021628.3(ALOXE3):c.1246T>C (p.Cys416Arg) rs1979917479
NM_021628.3(ALOXE3):c.1280T>C (p.Leu427Pro) rs1355284797
NM_021628.3(ALOXE3):c.1292dup (p.His431fs) rs1567999431
NM_021628.3(ALOXE3):c.1305+1_1305+2delinsTA rs1979909742
NM_021628.3(ALOXE3):c.1393-1G>A rs1979807431
NM_021628.3(ALOXE3):c.1432del (p.Ser478fs) rs2151838171
NM_021628.3(ALOXE3):c.1498G>T (p.Val500Phe) rs121434232
NM_021628.3(ALOXE3):c.1786-63_1807del rs1979055447
NM_021628.3(ALOXE3):c.1803_1804dup (p.Met602fs) rs1979055873
NM_021628.3(ALOXE3):c.1812T>A (p.Asn604Lys) rs568695601
NM_021628.3(ALOXE3):c.1937_1944del (p.Ser646fs) rs1979042162
NM_021628.3(ALOXE3):c.1954C>T (p.Gln652Ter) rs1163280866
NM_021628.3(ALOXE3):c.306T>A (p.Tyr102Ter) rs1568005543
NM_021628.3(ALOXE3):c.308A>C (p.Gln103Pro) rs1980629564
NM_021628.3(ALOXE3):c.327C>A (p.Cys109Ter) rs1980627156
NM_021628.3(ALOXE3):c.353-1G>C rs1980522554
NM_021628.3(ALOXE3):c.38_41del (p.Pro12_Tyr13insTer) rs769980324
NM_021628.3(ALOXE3):c.57_63del (p.Asp20fs) rs1980748884
NM_021628.3(ALOXE3):c.631C>T (p.Arg211Ter) rs141340759
NM_021628.3(ALOXE3):c.758del (p.Phe253fs) rs1980145171
NM_021628.3(ALOXE3):c.833A>G (p.Tyr278Cys) rs1980084767
NM_021628.3(ALOXE3):c.834C>A (p.Tyr278Ter) rs765682032
NM_021628.3(ALOXE3):c.842G>T (p.Gly281Val) rs786205120
NM_021628.3(ALOXE3):c.957G>A (p.Glu319=) rs1427770703
NM_021978.4(ST14):c.2034del (p.Leu678fs) rs587777263
NM_021978.4(ST14):c.2269+1G>A rs587777262
NM_021978.4(ST14):c.2479G>A (p.Gly827Arg) rs137852931
NM_021978.4(ST14):c.3G>A (p.Met1Ile) rs137852932
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.1152del (p.Gly385fs) rs2146555632
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter) rs372020804
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.6(HPS4):c.2054del (p.Pro685fs) rs2146241760
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs) rs281865100
NM_022081.6(HPS4):c.412G>T (p.Glu138Ter) rs119471024
NM_022081.6(HPS4):c.45G>A (p.Trp15Ter)
NM_022081.6(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.6(HPS4):c.47del (p.Asn16fs)
NM_022081.6(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.6(HPS4):c.57del (p.Leu20fs) rs281865097
NM_022081.6(HPS4):c.664G>T (p.Glu222Ter) rs119471025
NM_022121.5(PERP):c.452G>A (p.Trp151Ter) rs1775596990
NM_022121.5(PERP):c.453G>A (p.Trp151Ter) rs1775596924
NM_022121.5(PERP):c.459C>A (p.Tyr153Ter) rs201454106
NM_022121.5(PERP):c.459C>G (p.Tyr153Ter) rs201454106
NM_022121.5(PERP):c.466G>A (p.Gly156Arg) rs1775596006
NM_022336.3(EDAR):c.(?_509)_(803_?)+34del
NM_022336.3(EDAR):c.(?_998)_(1347_?)del
NM_022336.4(EDAR):c.1024+1G>A rs1553444895
NM_022336.4(EDAR):c.1024+2T>C
NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter) rs121908452
NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln) rs886039564
NM_022336.4(EDAR):c.1088del (p.Thr363fs) rs1574362082
NM_022336.4(EDAR):c.1089del (p.Tyr364fs) rs1558793736
NM_022336.4(EDAR):c.1097_1098del (p.Asn365_Ser366insTer) rs2105371772
NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter) rs886039348
NM_022336.4(EDAR):c.1151_1154dup (p.Asp386fs) rs2105371643
NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr) rs917638291
NM_022336.4(EDAR):c.1169del (p.Gly390fs) rs1558793621
NM_022336.4(EDAR):c.1169dup (p.Met391fs) rs1558793621
NM_022336.4(EDAR):c.1193_1194del (p.Leu397_Phe398insTer) rs1553443360
NM_022336.4(EDAR):c.1208C>T (p.Thr403Met) rs1696610832
NM_022336.4(EDAR):c.1214G>A (p.Gly405Asp) rs1696610594
NM_022336.4(EDAR):c.1214G>C (p.Gly405Ala) rs1696610594
NM_022336.4(EDAR):c.1218C>G (p.Tyr406Ter)
NM_022336.4(EDAR):c.1221del (p.Ser407fs)
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022336.4(EDAR):c.1280T>C (p.Leu427Ser)
NM_022336.4(EDAR):c.1282T>C (p.Cys428Arg)
NM_022336.4(EDAR):c.1292T>C (p.Ile431Thr)
NM_022336.4(EDAR):c.1297G>T (p.Glu433Ter)
NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly) rs773885029
NM_022336.4(EDAR):c.204del (p.Tyr69fs) rs1697322263
NM_022336.4(EDAR):c.207delinsTT (p.Gly70fs) rs1558814135
NM_022336.4(EDAR):c.278G>C (p.Cys93Ser) rs1553448320
NM_022336.4(EDAR):c.284del (p.Gly95fs) rs1060499610
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) rs557166582
NM_022336.4(EDAR):c.293G>A (p.Arg98Gln) rs144473052
NM_022336.4(EDAR):c.51+1G>A rs797044435
NM_022336.4(EDAR):c.52-25_52-8del rs1558814967
NM_022336.4(EDAR):c.641dup (p.Pro215fs)
NM_022336.4(EDAR):c.719_722del (p.Lys240fs) rs797044436
NM_022336.4(EDAR):c.73C>T (p.Arg25Ter)
NM_022336.4(EDAR):c.803+1G>A rs797044437
NM_022336.4(EDAR):c.931del (p.Glu311fs)
NM_022336.4(EDAR):c.93C>A (p.Cys31Ter) rs749688157
NM_022336.4(EDAR):c.964-1G>A rs2105390253
NM_022336.4(EDAR):c.979A>T (p.Lys327Ter) rs1696805876
NM_022662.4(ANAPC1):c.1778dup (p.Asn593fs) rs1573454278
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe) rs587777598
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_022726.4(ELOVL4):c.736T>G (p.Trp246Gly) rs1131692036
NM_022836.4(DCLRE1B):c.364C>T (p.Arg122Ter)
NM_022836.4(DCLRE1B):c.425T>C (p.Leu142Ser)
NM_022836.4(DCLRE1B):c.426A>T (p.Leu142Phe)
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1671del (p.Leu557fs) rs1816433701
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_024009.3(GJB3):c.101T>C (p.Leu34Pro) rs28937583
NM_024009.3(GJB3):c.125G>C (p.Arg42Pro) rs74315321
NM_024009.3(GJB3):c.256T>A (p.Cys86Ser) rs74315317
NM_024009.3(GJB3):c.34G>C (p.Gly12Arg) rs74315315
NM_024009.3(GJB3):c.35G>A (p.Gly12Asp) rs74315316
NM_024101.7(MLPH):c.292G>T (p.Glu98Ter)
NM_024101.7(MLPH):c.987del (p.Lys330fs) rs786205641
NM_024589.3(ROGDI):c.-3_45+8del
NM_024589.3(ROGDI):c.103C>T (p.Gln35Ter) rs2082742684
NM_024589.3(ROGDI):c.117+1G>T rs570952151
NM_024589.3(ROGDI):c.152dup (p.Thr52fs)
NM_024589.3(ROGDI):c.169A>T (p.Lys57Ter)
NM_024589.3(ROGDI):c.208C>T (p.Gln70Ter)
NM_024589.3(ROGDI):c.229_230del (p.Leu77fs) rs764899074
NM_024589.3(ROGDI):c.232C>T (p.Gln78Ter)
NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter) rs387907145
NM_024589.3(ROGDI):c.302_308dup (p.Glu104fs) rs1596277148
NM_024589.3(ROGDI):c.331C>T (p.Gln111Ter)
NM_024589.3(ROGDI):c.340C>T (p.Gln114Ter) rs1555491350
NM_024589.3(ROGDI):c.402C>A (p.Tyr134Ter) rs919033318
NM_024589.3(ROGDI):c.45+37_46-30del rs786205125
NM_024589.3(ROGDI):c.45+9_45+20del rs772340154
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs) rs786205124
NM_024589.3(ROGDI):c.507del (p.Glu170fs) rs786205124
NM_024589.3(ROGDI):c.532-2A>T rs786205119
NM_024589.3(ROGDI):c.581_593del (p.Ile194fs) rs2141906388
NM_024589.3(ROGDI):c.613C>T (p.Gln205Ter) rs780059442
NM_024589.3(ROGDI):c.652dup (p.Arg218fs) rs2141905980
NM_024589.3(ROGDI):c.665dup (p.Ala223fs) rs1039568775
NM_024589.3(ROGDI):c.715_718del (p.Leu239fs) rs2082670823
NM_024598.3:c.334dup
NM_024598.4(USB1):c.179del (p.Pro60fs) rs786205051
NM_024598.4(USB1):c.266-1G>A rs1555498092
NM_024598.4(USB1):c.489_492del (p.Asn163fs) rs777667891
NM_024598.4(USB1):c.499del (p.Thr167fs) rs1555498399
NM_024598.4(USB1):c.502A>G (p.Arg168Gly) rs137853971
NM_024598.4(USB1):c.504-2A>C rs137853970
NM_024598.4(USB1):c.531del (p.His179fs) rs1555498565
NM_024598.4(USB1):c.541C>T (p.Gln181Ter) rs1555498573
NM_024598.4(USB1):c.683_693+1del rs137853972
NM_024666.5(AAGAB):c.201_204del (p.Phe67fs) rs1567027610
NM_024666.5(AAGAB):c.31delinsGC (p.Thr11fs)
NM_024666.5(AAGAB):c.348_349del (p.Arg116fs) rs1567027297
NM_024666.5(AAGAB):c.473del (p.Gly158fs) rs781596375
NM_024666.5(AAGAB):c.61C>T (p.Gln21Ter) rs1567037561
NM_024702.3(ZNF750):c.55_56dup (p.Gly20fs) rs1322527075
NM_024747.6(HPS6):c.1030G>T (p.Glu344Ter) rs2067971306
NM_024747.6(HPS6):c.1065dup (p.Leu356fs) rs1564899492
NM_024747.6(HPS6):c.1411C>T (p.Gln471Ter) rs1590263662
NM_024747.6(HPS6):c.155del (p.Val52fs) rs1590262450
NM_024747.6(HPS6):c.1624del (p.Asp542fs) rs1590263807
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.6(HPS6):c.1714_1717del (p.Leu572fs) rs281865113
NM_024747.6(HPS6):c.1865_1866del (p.Leu622fs) rs281865114
NM_024747.6(HPS6):c.1898del (p.Pro633fs) rs1131692332
NM_024747.6(HPS6):c.1942C>T (p.Gln648Ter)
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.6(HPS6):c.283del (p.Val95fs) rs1564899012
NM_024747.6(HPS6):c.60_64dup (p.Leu22fs) rs752399257
NM_024747.6(HPS6):c.815C>T (p.Thr272Ile) rs281865109
NM_024747.6(HPS6):c.913C>T (p.Gln305Ter) rs281865110
NM_024915.4(GRHL2):c.1192T>C (p.Tyr398His) rs587777737
NM_024915.4(GRHL2):c.1445T>A (p.Ile482Lys) rs587777738
NM_025099.6(CTC1):c.1042del (p.Ser348fs) rs1290803035
NM_025099.6(CTC1):c.1070_1074del (p.Ser357fs) rs773120259
NM_025099.6(CTC1):c.1147del (p.Ala384fs)
NM_025099.6(CTC1):c.1156C>T (p.Gln386Ter) rs1203574273
NM_025099.6(CTC1):c.1190dup (p.Gly398fs)
NM_025099.6(CTC1):c.1213del (p.Asp405fs) rs1444923772
NM_025099.6(CTC1):c.122del (p.Leu41fs)
NM_025099.6(CTC1):c.146_149del (p.Val49fs)
NM_025099.6(CTC1):c.1583del (p.Ile528fs)
NM_025099.6(CTC1):c.1617+5G>T
NM_025099.6(CTC1):c.1623_1624del (p.Arg542fs)
NM_025099.6(CTC1):c.1668_1671del (p.Glu557fs) rs1237260493
NM_025099.6(CTC1):c.1746del (p.Ser583fs)
NM_025099.6(CTC1):c.1774_1784dup (p.Cys596fs)
NM_025099.6(CTC1):c.1785_1786del (p.Cys596fs)
NM_025099.6(CTC1):c.1788_1791del (p.Leu597fs)
NM_025099.6(CTC1):c.1814_1818del (p.Ala605fs)
NM_025099.6(CTC1):c.1918C>T (p.Gln640Ter) rs2151512520
NM_025099.6(CTC1):c.1934dup (p.Arg646fs)
NM_025099.6(CTC1):c.1A>C (p.Met1Leu) rs779499831
NM_025099.6(CTC1):c.1A>G (p.Met1Val)
NM_025099.6(CTC1):c.1A>T (p.Met1Leu)
NM_025099.6(CTC1):c.2071C>T (p.Gln691Ter)
NM_025099.6(CTC1):c.2126C>G (p.Ser709Ter) rs1201426650
NM_025099.6(CTC1):c.2291_2292del (p.Tyr764fs) rs2151509277
NM_025099.6(CTC1):c.2322del (p.Arg775fs)
NM_025099.6(CTC1):c.2472del (p.Ala825fs)
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025099.6(CTC1):c.2561_2573del (p.Val854fs) rs1987208048
NM_025099.6(CTC1):c.2605C>T (p.Gln869Ter)
NM_025099.6(CTC1):c.2770dup (p.Ala924fs)
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.2831dup (p.His945fs) rs199473677
NM_025099.6(CTC1):c.2880dup (p.Leu961fs) rs2151503544
NM_025099.6(CTC1):c.2888del (p.Pro963fs) rs1987105095
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter) rs62637613
NM_025099.6(CTC1):c.2978_2981dup (p.Leu995fs) rs2151502269
NM_025099.6(CTC1):c.2T>A (p.Met1Lys) rs1299853886
NM_025099.6(CTC1):c.2T>C (p.Met1Thr) rs1299853886
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025099.6(CTC1):c.303_316del (p.Asn102fs) rs2151531785
NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter) rs1567599296
NM_025099.6(CTC1):c.3099dup (p.Val1034fs) rs1597374251
NM_025099.6(CTC1):c.322C>T (p.Arg108Ter) rs372031509
NM_025099.6(CTC1):c.341del (p.Leu113_Leu114insTer)
NM_025099.6(CTC1):c.3437del (p.Cys1146fs)
NM_025099.6(CTC1):c.409_410del (p.Arg136_Asp137insTer)
NM_025099.6(CTC1):c.458G>A (p.Trp153Ter) rs2151530716
NM_025099.6(CTC1):c.495C>A (p.Tyr165Ter)
NM_025099.6(CTC1):c.58C>T (p.Gln20Ter)
NM_025099.6(CTC1):c.591del (p.Val198fs) rs1567613669
NM_025099.6(CTC1):c.694C>T (p.Arg232Ter)
NM_025099.6(CTC1):c.723_724del (p.Lys242fs)
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025099.6(CTC1):c.802C>T (p.Gln268Ter)
NM_025099.6(CTC1):c.812G>A (p.Trp271Ter) rs2151524168
NM_025099.6(CTC1):c.880C>T (p.Gln294Ter) rs2151523798
NM_025099.6(CTC1):c.896G>A (p.Trp299Ter)
NM_025099.6(CTC1):c.946C>T (p.Gln316Ter)
NM_025132.4(WDR19):c.2645+1G>T rs1237821935
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) rs387906981
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_025132.4(WDR19):c.956del (p.Asn319fs) rs2109322891
NM_025216.3(WNT10A):c.1018G>T (p.Glu340Ter)
NM_025216.3(WNT10A):c.1036del (p.Cys346fs)
NM_025216.3(WNT10A):c.1046del (p.Glu349fs)
NM_025216.3(WNT10A):c.1063del (p.Ala355fs) rs2106018668
NM_025216.3(WNT10A):c.1070C>T (p.Thr357Ile)
NM_025216.3(WNT10A):c.1091dup (p.Ser365fs) rs2106018717
NM_025216.3(WNT10A):c.1114T>G (p.Cys372Gly) rs1487577386
NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter) rs121908122
NM_025216.3(WNT10A):c.1165_1178delinsTTCCAGCACAACATC (p.Ser389fs) rs1944678383
NM_025216.3(WNT10A):c.1168G>T (p.Glu390Ter) rs750260671
NM_025216.3(WNT10A):c.1176C>A (p.Cys392Ter) rs1553623389
NM_025216.3(WNT10A):c.1199G>A (p.Cys400Tyr) rs1575235227
NM_025216.3(WNT10A):c.152del (p.Pro51fs)
NM_025216.3(WNT10A):c.1A>G (p.Met1Val)
NM_025216.3(WNT10A):c.1A>T (p.Met1Leu) rs1221516695
NM_025216.3(WNT10A):c.251dup (p.Ala85fs)
NM_025216.3(WNT10A):c.26G>A (p.Trp9Ter)
NM_025216.3(WNT10A):c.27G>A (p.Trp9Ter) rs121908123
NM_025216.3(WNT10A):c.295del (p.Gln99fs) rs2106011673
NM_025216.3(WNT10A):c.315G>A (p.Trp105Ter) rs886055642
NM_025216.3(WNT10A):c.354T>A (p.Tyr118Ter) rs2106011732
NM_025216.3(WNT10A):c.37C>T (p.Arg13Ter)
NM_025216.3(WNT10A):c.380del (p.Phe127fs)
NM_025216.3(WNT10A):c.381_382delinsTT (p.Arg128Ter)
NM_025216.3(WNT10A):c.386del (p.Glu129fs)
NM_025216.3(WNT10A):c.433G>A (p.Val145Met) rs543063101
NM_025216.3(WNT10A):c.490C>T (p.Arg164Ter) rs561173643
NM_025216.3(WNT10A):c.495_502dup (p.Glu168fs) rs2106016170
NM_025216.3(WNT10A):c.532C>T (p.Gln178Ter)
NM_025216.3(WNT10A):c.532_536del (p.Gln178fs) rs2106016227
NM_025216.3(WNT10A):c.547C>T (p.Gln183Ter)
NM_025216.3(WNT10A):c.55_56dup (p.Pro20fs) rs2106010718
NM_025216.3(WNT10A):c.574del (p.Val192fs)
NM_025216.3(WNT10A):c.580del (p.Glu194fs) rs2106016293
NM_025216.3(WNT10A):c.5_27del (p.Gly2fs)
NM_025216.3(WNT10A):c.62delinsGA (p.Ala21fs)
NM_025216.3(WNT10A):c.648del (p.Asp217fs) rs2106016375
NM_025216.3(WNT10A):c.673del (p.Ser225fs)
NM_025216.3(WNT10A):c.68G>A (p.Trp23Ter)
NM_025216.3(WNT10A):c.694del (p.Arg232fs) rs1575233692
NM_025216.3(WNT10A):c.694dup (p.Arg232fs)
NM_025216.3(WNT10A):c.697G>T (p.Glu233Ter) rs121908118
NM_025216.3(WNT10A):c.69G>A (p.Trp23Ter)
NM_025216.3(WNT10A):c.717del (p.His239fs) rs1944636041
NM_025216.3(WNT10A):c.756+1G>A rs1944637150
NM_025216.3(WNT10A):c.803C>G (p.Ser268Ter) rs886039454
NM_025216.3(WNT10A):c.813C>A (p.Cys271Ter)
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter) rs773036759
NM_025216.3(WNT10A):c.826T>A (p.Cys276Ser) rs1011303295
NM_025216.3(WNT10A):c.830G>A (p.Trp277Ter) rs1332945612
NM_025216.3(WNT10A):c.832C>T (p.Gln278Ter) rs2106018205
NM_025216.3(WNT10A):c.844G>T (p.Glu282Ter)
NM_025216.3(WNT10A):c.847_851del (p.Phe283fs) rs2106018239
NM_025216.3(WNT10A):c.85del (p.Leu29fs) rs781237311
NM_025216.3(WNT10A):c.898_899del (p.Ile300fs) rs1553623281
NM_025216.3(WNT10A):c.903_906del (p.Pro302fs) rs1371718238
NM_025216.3(WNT10A):c.909_916del (p.His303fs) rs1944671913
NM_025216.3(WNT10A):c.932dup (p.Pro312fs) rs2106018397
NM_025216.3(WNT10A):c.949del (p.Ala317fs) rs775990266
NM_025216.3(WNT10A):c.949dup (p.Ala317fs) rs775990266
NM_025216.3(WNT10A):c.956C>A (p.Ser319Ter)
NM_025216.3(WNT10A):c.981_993dup (p.Ser332fs)
NM_025216.3(WNT10A):c.982_986dup (p.Arg330fs)
NM_025216.3(WNT10A):c.983_984del (p.Arg328fs)
NM_025216.3(WNT10A):c.990_1003dup (p.Asp335fs) rs1203128182
NM_025216.3(WNT10A):c.993del (p.Ser332fs) rs2106018559
NM_025216.3(WNT10A):c.99_105dup (p.Met36fs)
NM_025216.3(WNT10A):c.[487C>T];[682T>A]
NM_030662.4(MAP2K2):c.169T>C (p.Phe57Leu) rs121434498
NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys) rs121434497
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_030662.4(MAP2K2):c.183A>C (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln) rs267607230
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030916.3(NECTIN4):c.181C>T (p.Gln61Ter) rs1085307125
NM_030916.3(NECTIN4):c.229C>T (p.Gln77Ter) rs1571153052
NM_030916.3(NECTIN4):c.554C>T (p.Thr185Met) rs267606992
NM_030916.3(NECTIN4):c.635C>G (p.Pro212Arg) rs387907014
NM_030916.3(NECTIN4):c.724G>A (p.Val242Met) rs1085307124
NM_030916.3(NECTIN4):c.880C>T (p.Arg294Ter) rs1653335301
NM_030916.3(NECTIN4):c.906del (p.Pro304fs) rs730880260
NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs) rs753229591
NM_031307.4(PUS3):c.366_367del (p.Ala123fs) rs1944570170
NM_031307.4(PUS3):c.438_442del (p.Asn146fs)
NM_032122.5(DTNBP1):c.1017_1020del (p.Glu340fs) rs752074481
NM_032122.5(DTNBP1):c.177G>A (p.Trp59Ter) rs727502866
NM_032208.3(ANTXR1):c.1150G>A (p.Gly384Ser) rs869312897
NM_032208.3(ANTXR1):c.1221dup (p.Ala408fs) rs869312895
NM_032208.3(ANTXR1):c.1435-12A>G rs879255533
NM_032208.3(ANTXR1):c.262C>T (p.Arg88Ter) rs397514701
NM_032208.3(ANTXR1):c.411A>G (p.Gln137=) rs869312896
NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter) rs397514700
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1291del (p.Leu431fs)
NM_032383.5(HPS3):c.1561del (p.Leu521fs) rs2108158577
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) rs753185316
NM_032383.5(HPS3):c.1631del (p.Lys544fs)
NM_032383.5(HPS3):c.1691+2T>G rs281865093
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) rs1723609962
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) rs745457191
NM_032383.5(HPS3):c.2424G>A (p.Trp808Ter)
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.248dup (p.Asn83fs)
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2766T>G (p.Tyr922Ter)
NM_032383.5(HPS3):c.2814dup (p.Leu939fs) rs1576708708
NM_032383.5(HPS3):c.319C>T (p.Arg107Ter)
NM_032383.5(HPS3):c.7C>T (p.Gln3Ter)
NM_032383.5(HPS3):c.851_852del (p.Arg284fs) rs750685598
NM_032383.5(HPS3):c.868C>T (p.Gln290Ter)
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs) rs763305108
NM_032487.4(ACTRT3):c.831_*2687del2976
NM_033004.4(NLRP1):c.160G>A (p.Ala54Thr) rs1057519492
NM_033004.4(NLRP1):c.197C>T (p.Ala66Val) rs1057519493
NM_033004.4(NLRP1):c.230T>C (p.Met77Thr) rs397514692
NM_033116.4(NEK9):c.1817T>C (p.Ile573Thr) rs1555352529
NM_033116.4(NEK9):c.[1715G>T;1731+1G>T]
NM_033116.6(NEK9):c.500T>C (p.Ile167Thr) rs879253775
NM_033305.3(VPS13A):c.1195_1198del (p.Ile398_Thr399insTer)
NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter) rs761923202
NM_033305.3(VPS13A):c.144+1G>C
NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter) rs1417246536
NM_033305.3(VPS13A):c.2512+1G>A
NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys) rs119477052
NM_033305.3(VPS13A):c.2951T>A (p.Leu984Ter)
NM_033305.3(VPS13A):c.2953C>T (p.Gln985Ter) rs1827048548
NM_033305.3(VPS13A):c.337C>T (p.Gln113Ter) rs780664594
NM_033305.3(VPS13A):c.3499_3503del (p.Ser1167fs) rs1827795601
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter) rs1193250444
NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter) rs1829478568
NM_033305.3(VPS13A):c.555+1G>A rs1590003601
NM_033305.3(VPS13A):c.5899del (p.Arg1967fs)
NM_033305.3(VPS13A):c.5909_5910del (p.Glu1970fs) rs1251833565
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033305.3(VPS13A):c.6283del (p.Ser2095fs) rs1587612257
NM_033305.3(VPS13A):c.6367_6374del (p.Tyr2123fs) rs1485186943
NM_033305.3(VPS13A):c.672_676del (p.Tyr224_Ser226delinsTer) rs2131153683
NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)
NM_033305.3(VPS13A):c.7419+1G>A rs763654348
NM_033305.3(VPS13A):c.755-1G>A
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs) rs748828128
NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr) rs1587653832
NM_033305.3(VPS13A):c.8148del (p.Phe2719fs)
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs) rs1834577610
NM_033360.4(KRAS):c.*22C>G rs104894362
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_033360.4(KRAS):c.211T>C (p.Tyr71His) rs387907205
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) rs387907206
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.130del (p.Leu44fs)
NM_033629.6(TREX1):c.141_151del (p.Pro48fs)
NM_033629.6(TREX1):c.144del (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.150_151del (p.Gln51fs) rs770607110
NM_033629.6(TREX1):c.153_166del (p.Gln51fs) rs2107256093
NM_033629.6(TREX1):c.18dup (p.Pro7fs)
NM_033629.6(TREX1):c.205_206del (p.Leu69fs)
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs)
NM_033629.6(TREX1):c.236_243del (p.Pro79fs) rs1331920811
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.296_299dup (p.Phe100fs) rs763966000
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter)
NM_033629.6(TREX1):c.366_367del (p.Ala123fs)
NM_033629.6(TREX1):c.366_368dup (p.Ala123_His124insAla) rs77371662
NM_033629.6(TREX1):c.371_381del (p.His124fs)
NM_033629.6(TREX1):c.399dup (p.Leu134fs) rs2107258834
NM_033629.6(TREX1):c.513del (p.His171fs)
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer)
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.55dup (p.Met19fs)
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter)
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.6(TREX1):c.5del (p.Gly2fs) rs2107254550
NM_033629.6(TREX1):c.621_622del (p.Ile207fs) rs781199890
NM_033629.6(TREX1):c.635del (p.Pro212fs) rs756664985
NM_033629.6(TREX1):c.69dup (p.Pro25fs)
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs)
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_052989.3(IFT122):c.1141C>T (p.Gln381Ter)
NM_052989.3(IFT122):c.1198C>T (p.Arg400Ter)
NM_052989.3(IFT122):c.1432dup (p.Val478fs) rs2108311256
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly) rs267607191
NM_052989.3(IFT122):c.1963del (p.Glu655fs)
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys) rs267607193
NM_052989.3(IFT122):c.2285del (p.Lys762fs) rs2081339145
NM_052989.3(IFT122):c.2313C>A (p.Tyr771Ter)
NM_052989.3(IFT122):c.2375+2T>C rs786205567
NM_052989.3(IFT122):c.2705_2706del (p.Thr902fs)
NM_052989.3(IFT122):c.273-257C>A
NM_052989.3(IFT122):c.273-281_273-271del rs1559868433
NM_052989.3(IFT122):c.273-341dup
NM_052989.3(IFT122):c.273-374_273-369dup
NM_052989.3(IFT122):c.3013C>T (p.Gln1005Ter)
NM_052989.3(IFT122):c.3076_3079delinsG (p.Tyr1026_Ile1027delinsVal) rs2083230922
NM_052989.3(IFT122):c.3076_3080delinsGTA (p.Tyr1026fs)
NM_052989.3(IFT122):c.3180C>A (p.Cys1060Ter)
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs) rs1299632365
NM_052989.3(IFT122):c.347_348del (p.Phe116fs)
NM_052989.3(IFT122):c.3553C>T (p.Arg1185Ter)
NM_052989.3(IFT122):c.3563del (p.Pro1188fs)
NM_052989.3(IFT122):c.356G>A (p.Trp119Ter)
NM_052989.3(IFT122):c.3575G>A (p.Trp1192Ter)
NM_052989.3(IFT122):c.3726A>G (p.Ter1242Trp) rs2108740086
NM_052989.3(IFT122):c.384del (p.Lys128fs)
NM_052989.3(IFT122):c.443_449dup (p.Met151fs)
NM_052989.3(IFT122):c.916_917del (p.Leu306fs)
NM_052989.3(IFT122):c.955del (p.Glu319fs) rs397515567
NM_052989.3(IFT122):c.982C>T (p.Gln328Ter)
NM_053274.3(GLMN):c.1630G>T (p.Glu544Ter) rs1557497881
NM_058172.6(ANTXR2):c.1069del (p.Ala357fs) rs556120147
NM_058172.6(ANTXR2):c.1073del (p.Pro358fs) rs312262690
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) rs312262690
NM_058172.6(ANTXR2):c.1139del (p.Tyr380fs)
NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys) rs137852901
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=) rs546102223
NM_058172.6(ANTXR2):c.1294C>T (p.Arg432Ter)
NM_058172.6(ANTXR2):c.1305del (p.Thr436fs) rs797045028
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp) rs137852902
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr) rs137852905
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter) rs137852904
NM_058172.6(ANTXR2):c.903dup (p.Ser302fs) rs1553933367
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg) rs137852903
NM_058172.6(ANTXR2):c.[1073dup];[1074del]
NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC
NM_138701.4(MPLKIP):c.137_138del (p.Gly46fs) rs587776531
NM_138701.4(MPLKIP):c.148_152del (p.His50fs) rs878854339
NM_138701.4(MPLKIP):c.229del (p.Arg77fs) rs2150561563
NM_138701.4(MPLKIP):c.339+1G>A rs869312900
NM_138701.4(MPLKIP):c.505dup (p.Thr169fs) rs768342562
NM_138711.6(PPARG):c.1074T>A (p.Phe358Leu) rs72551363
NM_138711.6(PPARG):c.1183C>T (p.Arg395Cys) rs72551364
NM_138711.6(PPARG):c.1271del (p.Pro424fs) rs770557781
NM_138711.6(PPARG):c.1394C>T (p.Pro465Leu) rs121909244
NM_138711.6(PPARG):c.221-1G>C
NM_138711.6(PPARG):c.258T>G (p.Tyr86Ter)
NM_138711.6(PPARG):c.443T>C (p.Leu148Pro)
NM_138711.6(PPARG):c.478T>A (p.Cys160Ser) rs121909245
NM_138711.6(PPARG):c.490C>T (p.Arg164Trp) rs121909246
NM_138711.6(PPARG):c.530-1G>A rs2125252529
NM_138711.6(PPARG):c.551C>T (p.Pro184Leu)
NM_138711.6(PPARG):c.862G>A (p.Val288Met) rs72551362
NM_138711.6(PPARG):c.924_928del (p.Asp308fs) rs1553650477
NM_139017.7(IL31RA):c.1562C>T (p.Ser521Phe) rs1561123748
NM_144991.3(TSPEAR):c.1423G>C (p.Gly475Arg)
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)
NM_144991.3(TSPEAR):c.42_51dup (p.His18fs) rs1467180870
NM_144991.3(TSPEAR):c.48del (p.Gly17fs)
NM_144991.3(TSPEAR):c.789T>G (p.Tyr263Ter) rs966162330
NM_145068.4(TRPV3):c.1703G>T (p.Gly568Val) rs1057517884
NM_145068.4(TRPV3):c.1717G>A (p.Gly573Ser) rs199473704
NM_145068.4(TRPV3):c.1717G>T (p.Gly573Cys) rs199473704
NM_145068.4(TRPV3):c.1739A>C (p.Gln580Pro) rs786205869
NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe) rs786205868
NM_145068.4(TRPV3):c.2074T>G (p.Trp692Gly) rs199473705
NM_145861.4(EDARADD):c.120+1G>A rs879255553
NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter) rs766500689
NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg) rs121908116
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) rs74315309
NM_145861.4(EDARADD):c.469G>A (p.Glu157Lys)
NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu) rs200017138
NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys) rs1657345576
NM_147127.5(EVC2):c.104C>G (p.Ser35Ter) rs2151750076
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1082_1095del (p.Asn361fs)
NM_147127.5(EVC2):c.1090del (p.Gln363_Met364insTer)
NM_147127.5(EVC2):c.1108del (p.Ser370fs) rs2108895910
NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter)
NM_147127.5(EVC2):c.1163del (p.Leu388fs)
NM_147127.5(EVC2):c.116G>A (p.Trp39Ter) rs1345487794
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter) rs372215987
NM_147127.5(EVC2):c.1332del (p.Glu445fs)
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter) rs1717259479
NM_147127.5(EVC2):c.1410C>G (p.Tyr470Ter) rs2108863739
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1453_1459dup (p.Ala487fs)
NM_147127.5(EVC2):c.1470+1dup rs1717244500
NM_147127.5(EVC2):c.1483_1484dup (p.Ser496fs) rs2108851802
NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter)
NM_147127.5(EVC2):c.1529T>A (p.Leu510Ter) rs2108851695
NM_147127.5(EVC2):c.1541_1542del (p.Leu514fs) rs1560180583
NM_147127.5(EVC2):c.1588_1591del (p.Ala530fs)
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter) rs1284395468
NM_147127.5(EVC2):c.1639del (p.Ser547fs) rs2108851441
NM_147127.5(EVC2):c.1667_1668del (p.Pro556fs)
NM_147127.5(EVC2):c.1706del (p.Ile569fs)
NM_147127.5(EVC2):c.1739del (p.Phe580fs)
NM_147127.5(EVC2):c.1755dup (p.Tyr586fs) rs2108847232
NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter)
NM_147127.5(EVC2):c.1807_1808del (p.Gln603fs)
NM_147127.5(EVC2):c.1857_1866del (p.Gln619fs) rs2108847014
NM_147127.5(EVC2):c.1939_1945del (p.Thr647fs)
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.1987G>T (p.Glu663Ter)
NM_147127.5(EVC2):c.1991dup (p.Lys665fs) rs2108843224
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.199_208dup (p.Gly70fs)
NM_147127.5(EVC2):c.2010del (p.Lys670fs) rs2108843186
NM_147127.5(EVC2):c.2017_2021del (p.Thr673fs) rs2108843144
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter) rs2108843158
NM_147127.5(EVC2):c.2026_2027insTTCT (p.Arg676fs)
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) rs73198165
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)
NM_147127.5(EVC2):c.2057del (p.Gln686fs)
NM_147127.5(EVC2):c.205del (p.Ala69fs) rs1400121444
NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter)
NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs) rs1715829134
NM_147127.5(EVC2):c.207_211dup (p.Pro71fs)
NM_147127.5(EVC2):c.208_212dup (p.Glu72fs)
NM_147127.5(EVC2):c.2148_2149dup (p.His717fs)
NM_147127.5(EVC2):c.2150_2156del (p.His717fs)
NM_147127.5(EVC2):c.2161del (p.Leu721fs)
NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter) rs2108839112
NM_147127.5(EVC2):c.2281del (p.Gln761fs)
NM_147127.5(EVC2):c.2332del (p.Glu778fs)
NM_147127.5(EVC2):c.2335G>T (p.Glu779Ter)
NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter)
NM_147127.5(EVC2):c.2386_2387del (p.Arg796fs)
NM_147127.5(EVC2):c.2405del (p.Gly802fs) rs2108838579
NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter)
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter) rs1715768907
NM_147127.5(EVC2):c.24del (p.Arg9fs) rs2151750195
NM_147127.5(EVC2):c.2516_2517delinsAG (p.Ser839Ter)
NM_147127.5(EVC2):c.2524_2536del (p.Ser842fs) rs2108833500
NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter)
NM_147127.5(EVC2):c.253A>T (p.Lys85Ter) rs2151739558
NM_147127.5(EVC2):c.2540_2549del (p.Glu847fs)
NM_147127.5(EVC2):c.2619_2629del (p.Arg874fs)
NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter)
NM_147127.5(EVC2):c.2637_2638dup (p.Phe880fs) rs2108833230
NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter) rs981099037
NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter)
NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)
NM_147127.5(EVC2):c.2729C>G (p.Ser910Ter) rs2108829049
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_147127.5(EVC2):c.2746del (p.Ser916fs) rs886037763
NM_147127.5(EVC2):c.2750del (p.Lys917fs)
NM_147127.5(EVC2):c.2796_2797del (p.Cys932_Glu933delinsTer) rs765076649
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter) rs1301855639
NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter)
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
NM_147127.5(EVC2):c.2867_2879del (p.Met956fs)
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
NM_147127.5(EVC2):c.2892del (p.Gln965fs)
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
NM_147127.5(EVC2):c.2893_2894del (p.Gln965fs)
NM_147127.5(EVC2):c.2897C>A (p.Ser966Ter) rs145425340
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)
NM_147127.5(EVC2):c.2954del (p.Tyr985fs) rs2108788549
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)
NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter) rs60809236
NM_147127.5(EVC2):c.3057+1del rs772639262
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter) rs200560762
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.314del (p.Lys105fs)
NM_147127.5(EVC2):c.3194del (p.Asp1065fs) rs2108778725
NM_147127.5(EVC2):c.3239del (p.Lys1080fs) rs1291275281
NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter)
NM_147127.5(EVC2):c.3252dup (p.Leu1085fs)
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs) rs1722814486
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3374dup (p.Ser1126fs)
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs) rs1722452431
NM_147127.5(EVC2):c.3454_3461del (p.Gln1152fs)
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs) rs1722451930
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3487_3488dup (p.Glu1164fs) rs2108770774
NM_147127.5(EVC2):c.3542_3543insACGA (p.Asp1181fs)
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3634delinsGA (p.Leu1212fs) rs1553812417
NM_147127.5(EVC2):c.3637_3638insTT (p.Trp1213fs)
NM_147127.5(EVC2):c.3640del (p.Ala1214fs) rs1577095782
NM_147127.5(EVC2):c.3648_3649delinsTT (p.Lys1216_Arg1217delinsAsnTer) rs2108767230
NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter) rs369739594
NM_147127.5(EVC2):c.369_370del (p.Trp123fs)
NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter)
NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter) rs769520928
NM_147127.5(EVC2):c.3793del (p.Leu1265fs) rs587776568
NM_147127.5(EVC2):c.3797T>A (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter) rs1560121645
NM_147127.5(EVC2):c.390dup (p.Ile131fs) rs1253403779
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_147127.5(EVC2):c.420del (p.Phe140fs)
NM_147127.5(EVC2):c.437_438dup (p.Thr147Ter)
NM_147127.5(EVC2):c.449del (p.Leu150fs)
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.519+1G>A
NM_147127.5(EVC2):c.519+2T>C rs1721102486
NM_147127.5(EVC2):c.519+2T>G
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.557G>A (p.Trp186Ter)
NM_147127.5(EVC2):c.599_602dup (p.Glu202fs)
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter) rs779857359
NM_147127.5(EVC2):c.655G>T (p.Gly219Ter) rs745404766
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter) rs999964757
NM_147127.5(EVC2):c.670dup (p.Glu224fs)
NM_147127.5(EVC2):c.703C>T (p.Gln235Ter)
NM_147127.5(EVC2):c.707-2A>C rs1302074641
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)
NM_147127.5(EVC2):c.802C>T (p.Gln268Ter) rs2151728030
NM_147127.5(EVC2):c.80dup (p.Arg28fs)
NM_147127.5(EVC2):c.816+1G>T rs1355905411
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.820A>T (p.Arg274Ter) rs2151724149
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.826_827del (p.Gln276fs) rs758841632
NM_147127.5(EVC2):c.850del (p.Thr284fs) rs886044525
NM_147127.5(EVC2):c.86del (p.Gly29fs)
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.876_892dup (p.His298fs) rs2108900159
NM_147127.5(EVC2):c.903del (p.Phe302fs) rs1560208675
NM_147127.5(EVC2):c.90_91delinsAT (p.Cys30_Leu31delinsTer)
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_147686.4(TRAF3IP2):c.1044_1084del (p.Pro349fs) rs1583225922
NM_147686.4(TRAF3IP2):c.1222del (p.Ser408fs) rs2128374357
NM_147686.4(TRAF3IP2):c.1471C>T (p.Arg491Ter)
NM_147686.4(TRAF3IP2):c.1580C>T (p.Thr527Ile) rs397518485
NM_147686.4(TRAF3IP2):c.349del (p.Ala117fs)
NM_147686.4(TRAF3IP2):c.698_749del (p.Ser233fs)
NM_147686.4(TRAF3IP2):c.724C>T (p.Gln242Ter)
NM_147686.4(TRAF3IP2):c.7C>T (p.Arg3Ter)
NM_147686.4(TRAF3IP2):c.926_1022+148delinsTGACCTGAAAAGTCTATATTGGGCATTCCACTATGTGACTTGCTCACTAACGTGGGTTAGCAAACCTATAGAGAATTCTGTTACATCTTCATTGCATTGGCATAATTCCTTTCCATGTTAAAAATGCCTGAAGGTTGGGCCTGTCATACTTACTGGTGCCTTGGAAGCCCCGGAAAGGAGCAGTCTCTCTGTGCGGGCCTCTCTTCGTGGTCCCAGGGGCTGGGATAATTCAGGATAACCTTCTGCACAG rs1796107143
NM_148897.3(SDR9C7):c.364dup (p.Thr122fs) rs760309815
NM_148897.3(SDR9C7):c.826C>T (p.Arg276Cys)
NM_152295.5(TARS1):c.680T>C (p.Leu227Pro) rs1579584983
NM_152295.5(TARS1):c.826A>G (p.Lys276Glu) rs1579585658
NM_152305.3(POGLUT1):c.835dup (p.Arg279fs) rs587777296
NM_152365.3(KDF1):c.753C>A (p.Phe251Leu) rs1057519508
NM_152468.5(TMC8):c.1084G>T (p.Glu362Ter) rs121908330
NM_152468.5(TMC8):c.1207_1208del (p.Lys403fs)
NM_152468.5(TMC8):c.1268dup (p.Glu425fs) rs2075270806
NM_152468.5(TMC8):c.1274del (p.Glu425fs)
NM_152468.5(TMC8):c.1481del (p.Leu494fs)
NM_152468.5(TMC8):c.1746del (p.Leu583fs) rs1598923748
NM_152468.5(TMC8):c.316del (p.Ile106fs)
NM_152468.5(TMC8):c.423del (p.Asp142fs)
NM_152468.5(TMC8):c.561_583del (p.Ala188fs)
NM_152468.5(TMC8):c.661_662del (p.Leu221fs) rs761550940
NM_152468.5(TMC8):c.697_698del (p.Leu233fs)
NM_152468.5(TMC8):c.705del (p.Gln236fs)
NM_152468.5(TMC8):c.871_883del (p.Gln291fs)
NM_152468.5(TMC8):c.883_889del (p.Arg295fs)
NM_152468.5(TMC8):c.898del (p.Leu300fs) rs2145662712
NM_152594.3(SPRED1):c.1011C>A (p.Tyr337Ter) rs2141016437
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter) rs1566876895
NM_152594.3(SPRED1):c.1035_1047del (p.Gly350fs)
NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter) rs1555389690
NM_152594.3(SPRED1):c.1043_1044insCAGGGGAAAATGT (p.Cys352_Gln353insTer)
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs) rs1566876929
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs) rs2141016462
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs) rs1566876941
NM_152594.3(SPRED1):c.1053del (p.Lys351fs) rs1566876954
NM_152594.3(SPRED1):c.1073del (p.Pro358fs)
NM_152594.3(SPRED1):c.1091_1106del (p.Tyr364fs)
NM_152594.3(SPRED1):c.1099_1102del (p.Ser367fs) rs1555392783
NM_152594.3(SPRED1):c.1117G>T (p.Glu373Ter)
NM_152594.3(SPRED1):c.1132_1139del (p.His378fs) rs2141016553
NM_152594.3(SPRED1):c.1142C>G (p.Ser381Ter)
NM_152594.3(SPRED1):c.1142del (p.Met380_Ser381insTer)
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs) rs878855228
NM_152594.3(SPRED1):c.1151del (p.Glu384fs) rs1595763928
NM_152594.3(SPRED1):c.1175C>A (p.Ser392Ter) rs1345810751
NM_152594.3(SPRED1):c.1207C>T (p.Arg403Ter)
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)
NM_152594.3(SPRED1):c.1224del (p.Ala409fs)
NM_152594.3(SPRED1):c.1232_1241del (p.Ser411fs) rs2141016685
NM_152594.3(SPRED1):c.1235dup (p.Ile413fs)
NM_152594.3(SPRED1):c.1237_1238del (p.Ile413fs) rs2141016692
NM_152594.3(SPRED1):c.1273del (p.Met425fs) rs2141016737
NM_152594.3(SPRED1):c.131T>A (p.Val44Asp) rs121434318
NM_152594.3(SPRED1):c.148C>T (p.Gln50Ter) rs148646547
NM_152594.3(SPRED1):c.177del (p.Phe59fs)
NM_152594.3(SPRED1):c.177dup (p.Ile60fs) rs1895110802
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.1A>G (p.Met1Val) rs1894017295
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter) rs727504170
NM_152594.3(SPRED1):c.234dup (p.Asp79fs) rs1566867209
NM_152594.3(SPRED1):c.272del (p.His91fs)
NM_152594.3(SPRED1):c.291del (p.Lys98fs)
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs) rs1566867246
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152594.3(SPRED1):c.305del (p.Thr102fs) rs2140994872
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs) rs1595746834
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer) rs1595746858
NM_152594.3(SPRED1):c.328del (p.Arg110fs)
NM_152594.3(SPRED1):c.342_343del (p.Gly115fs) rs1555391061
NM_152594.3(SPRED1):c.342_349dup (p.Arg117fs)
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.355dup (p.Ala119fs) rs1895621783
NM_152594.3(SPRED1):c.384dup (p.Glu129fs) rs1566868022
NM_152594.3(SPRED1):c.385G>T (p.Glu129Ter) rs764823722
NM_152594.3(SPRED1):c.395dup (p.Asn132fs) rs1895677481
NM_152594.3(SPRED1):c.3G>A (p.Met1Ile) rs1324903101
NM_152594.3(SPRED1):c.408_409dup (p.Ala137fs)
NM_152594.3(SPRED1):c.40del (p.Tyr14fs) rs2140978331
NM_152594.3(SPRED1):c.413_414dup (p.Asp139fs)
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter) rs1060502505
NM_152594.3(SPRED1):c.423+1G>A rs1566868058
NM_152594.3(SPRED1):c.423+2T>C rs1555391161
NM_152594.3(SPRED1):c.42T>G (p.Tyr14Ter)
NM_152594.3(SPRED1):c.461del (p.Asp154fs)
NM_152594.3(SPRED1):c.475del (p.Gln159fs) rs2141007796
NM_152594.3(SPRED1):c.490_491dup (p.Ser165fs)
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.3(SPRED1):c.565C>T (p.Gln189Ter)
NM_152594.3(SPRED1):c.613C>T (p.Gln205Ter) rs2141014847
NM_152594.3(SPRED1):c.619A>T (p.Arg207Ter) rs368660900
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter) rs121434316
NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter) rs121434314
NM_152594.3(SPRED1):c.676C>T (p.Gln226Ter) rs1555392609
NM_152594.3(SPRED1):c.684+1G>T
NM_152594.3(SPRED1):c.692del (p.Pro230_Leu231insTer) rs2141016007
NM_152594.3(SPRED1):c.696del (p.Lys232fs)
NM_152594.3(SPRED1):c.719_725del (p.Gln240fs)
NM_152594.3(SPRED1):c.724G>T (p.Glu242Ter)
NM_152594.3(SPRED1):c.783C>A (p.Tyr261Ter) rs1888473716
NM_152594.3(SPRED1):c.784A>T (p.Arg262Ter) rs121434317
NM_152594.3(SPRED1):c.794dup (p.Asp265fs) rs2141016108
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.7_20del (p.Glu3fs) rs1555386651
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter) rs1595763557
NM_152594.3(SPRED1):c.841C>T (p.Gln281Ter) rs755557783
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter) rs1595763656
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs) rs1595763662
NM_152594.3(SPRED1):c.906_910del (p.Leu302fs) rs1595763659
NM_152594.3(SPRED1):c.923_924del (p.Ser308fs) rs1555392759
NM_152594.3(SPRED1):c.950C>G (p.Ser317Ter)
NM_152594.3(SPRED1):c.96_97insT (p.Pro33fs)
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter) rs1057518683
NM_152792.4(ASPRV1):c.343A>G (p.Lys115Glu) rs1678079858
NM_152792.4(ASPRV1):c.680G>C (p.Arg227Pro) rs373824162
NM_152792.4(ASPRV1):c.688C>A (p.Pro230Thr) rs756352033
NM_153212.3(GJB4):c.253A>C (p.Thr85Pro) rs80358210
NM_153212.3(GJB4):c.35G>A (p.Gly12Asp) rs80358211
NM_153212.3(GJB4):c.409T>C (p.Phe137Leu) rs80358207
NM_153212.3(GJB4):c.411C>A (p.Phe137Leu) rs80358206
NM_153212.3(GJB4):c.566T>A (p.Phe189Tyr) rs80358213
NM_153212.3(GJB4):c.65G>A (p.Arg22His) rs80358212
NM_153460.4(IL17RC):c.199C>T (p.Gln67Ter) rs1057518751
NM_153490.3(KRT13):c.332T>C (p.Leu111Pro) rs59897026
NM_153490.3(KRT13):c.356T>C (p.Leu119Pro) rs60440396
NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1047_1048del (p.Arg349fs) rs745627738
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)
NM_153717.3(EVC):c.1086del (p.Glu362fs)
NM_153717.3(EVC):c.1114del (p.Thr372fs)
NM_153717.3(EVC):c.1122dup (p.Arg375fs)
NM_153717.3(EVC):c.1168C>T (p.Gln390Ter) rs1560340266
NM_153717.3(EVC):c.1228G>T (p.Glu410Ter) rs2152076522
NM_153717.3(EVC):c.1233dup (p.Lys412fs)
NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs) rs1730623318
NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)
NM_153717.3(EVC):c.1290_1291delinsAA (p.Trp430_Gln431delinsTer) rs2152076745
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter) rs1730760070
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs) rs1553876034
NM_153717.3(EVC):c.1412_1413del (p.Arg471fs)
NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)
NM_153717.3(EVC):c.1494del (p.Arg498fs) rs2152094799
NM_153717.3(EVC):c.1501C>T (p.Gln501Ter) rs373088008
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.1554dup (p.Leu519fs) rs1553876870
NM_153717.3(EVC):c.155del (p.Arg52fs) rs1439712140
NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter)
NM_153717.3(EVC):c.157C>T (p.Gln53Ter)
NM_153717.3(EVC):c.1618del (p.Leu540fs)
NM_153717.3(EVC):c.1652del (p.Pro551fs) rs1312383000
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
NM_153717.3(EVC):c.1657G>T (p.Glu553Ter)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225
NM_153717.3(EVC):c.1687G>T (p.Glu563Ter) rs539010490
NM_153717.3(EVC):c.16del (p.Ala6fs) rs2151766718
NM_153717.3(EVC):c.174+1G>T rs2151768710
NM_153717.3(EVC):c.1746_1747del (p.Phe583fs) rs2152289369
NM_153717.3(EVC):c.1750del (p.Gln584fs) rs1736000365
NM_153717.3(EVC):c.1750dup (p.Gln584fs)
NM_153717.3(EVC):c.1777-2A>C
NM_153717.3(EVC):c.1783_1886+40del rs2152326431
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_153717.3(EVC):c.1818_1821del (p.His607fs) rs2152326544
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter) rs1329006994
NM_153717.3(EVC):c.186_187del (p.Gln63fs)
NM_153717.3(EVC):c.1884_1885insCA (p.Glu629fs) rs2152326770
NM_153717.3(EVC):c.1886+5G>A rs794726665
NM_153717.3(EVC):c.1900del (p.Val634fs)
NM_153717.3(EVC):c.1971del (p.Thr658fs) rs2152340509
NM_153717.3(EVC):c.1A>C (p.Met1Leu)
NM_153717.3(EVC):c.2029C>T (p.Gln677Ter)
NM_153717.3(EVC):c.203del (p.Asn68fs) rs1560274093
NM_153717.3(EVC):c.2079G>A (p.Trp693Ter)
NM_153717.3(EVC):c.2088_2089dup (p.Arg697fs)
NM_153717.3(EVC):c.2089_2090del (p.Arg697fs)
NM_153717.3(EVC):c.2126_2129dup (p.Glu711fs)
NM_153717.3(EVC):c.2145_2146insGCCC (p.Gln716fs) rs2152345583
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter) rs1714412021
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
NM_153717.3(EVC):c.2365del (p.Leu789fs)
NM_153717.3(EVC):c.2376del (p.Tyr793fs) rs1577638781
NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)
NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter)
NM_153717.3(EVC):c.2399_2408del (p.Ile800fs)
NM_153717.3(EVC):c.241dup (p.Ser81fs)
NM_153717.3(EVC):c.2457del (p.Met820fs) rs794726666
NM_153717.3(EVC):c.2472dup (p.Leu825fs)
NM_153717.3(EVC):c.2488G>T (p.Glu830Ter) rs2152375194
NM_153717.3(EVC):c.248C>G (p.Ser83Ter)
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2518_2528del (p.Thr840fs)
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter) rs561852174
NM_153717.3(EVC):c.2561+1G>A rs1553894457
NM_153717.3(EVC):c.2561+1dup rs2152375437
NM_153717.3(EVC):c.25A>T (p.Lys9Ter) rs1425513399
NM_153717.3(EVC):c.2634_2635delinsTT (p.Gln878_Gln879delinsHisTer) rs2152387847
NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)
NM_153717.3(EVC):c.267_274del (p.Glu89fs) rs2151842413
NM_153717.3(EVC):c.2686C>T (p.Gln896Ter)
NM_153717.3(EVC):c.2698C>T (p.Gln900Ter) rs1039706882
NM_153717.3(EVC):c.2705del (p.Phe902fs) rs2152391901
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.286A>T (p.Lys96Ter) rs2151842550
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.338dup (p.Ala114fs) rs2151919221
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.369del (p.Asn124fs)
NM_153717.3(EVC):c.37_38del (p.Arg13fs) rs1722986802
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153717.3(EVC):c.478_481del (p.Ser160fs) rs2151935449
NM_153717.3(EVC):c.528del (p.Ser177fs) rs1381525157
NM_153717.3(EVC):c.539C>A (p.Ser180Ter) rs762136199
NM_153717.3(EVC):c.568dup (p.Arg190fs)
NM_153717.3(EVC):c.583del (p.Arg194_Val195insTer) rs2151935987
NM_153717.3(EVC):c.596del (p.Pro199fs)
NM_153717.3(EVC):c.612C>A (p.Cys204Ter) rs553634958
NM_153717.3(EVC):c.613G>T (p.Glu205Ter)
NM_153717.3(EVC):c.618-2A>G
NM_153717.3(EVC):c.62_68dup (p.Pro25fs)
NM_153717.3(EVC):c.635del (p.Cys212fs) rs2151945937
NM_153717.3(EVC):c.641dup (p.Tyr214Ter)
NM_153717.3(EVC):c.653T>G (p.Leu218Ter)
NM_153717.3(EVC):c.673del (p.Asp225fs) rs2151946081
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.708dup (p.Ile237fs)
NM_153717.3(EVC):c.720dup (p.Lys241Ter) rs1553871764
NM_153717.3(EVC):c.721A>T (p.Lys241Ter) rs2152000498
NM_153717.3(EVC):c.724dup (p.Met242fs) rs1577395250
NM_153717.3(EVC):c.735del (p.Asp246fs) rs587776619
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.784del (p.Leu262fs) rs1560315890
NM_153717.3(EVC):c.784dup (p.Leu262fs)
NM_153717.3(EVC):c.788C>G (p.Ser263Ter) rs2152001027
NM_153717.3(EVC):c.801+1G>T
NM_153717.3(EVC):c.801dup (p.Asp268fs) rs777852863
NM_153717.3(EVC):c.829C>T (p.Gln277Ter) rs1251648799
NM_153717.3(EVC):c.872_873del (p.Asp290_Ser291insTer)
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs) rs1729197529
NM_153717.3(EVC):c.90del (p.Ala31fs) rs1196950486
NM_153717.3(EVC):c.910dup (p.Arg304fs) rs1428798262
NM_153717.3(EVC):c.922_923del (p.Glu308fs) rs1729200967
NM_153717.3(EVC):c.958C>T (p.Gln320Ter)
NM_153717.3(EVC):c.973C>T (p.Gln325Ter) rs1729654379
NM_153717.3(EVC):c.986_987del (p.Val329fs)
NM_170665.4(ATP2A2):c.1006_1010delinsTTCCAAGG (p.Leu336_Pro337delinsPheGlnGly)
NM_170665.4(ATP2A2):c.1013C>T (p.Ser338Phe)
NM_170665.4(ATP2A2):c.137-13_137-12insNNNNNNNNNNNNNNNNNN rs2137673961
NM_170665.4(ATP2A2):c.1678T>C (p.Cys560Arg) rs121912734
NM_170665.4(ATP2A2):c.1805C>T (p.Pro602Leu) rs121912737
NM_170665.4(ATP2A2):c.2093C>T (p.Ala698Val) rs387906594
NM_170665.4(ATP2A2):c.2258ACA[2] (p.Asn755del) rs1566240208
NM_170665.4(ATP2A2):c.322C>T (p.Gln108Ter) rs121912731
NM_170665.4(ATP2A2):c.392G>A (p.Arg131Gln) rs121912738
NM_170665.4(ATP2A2):c.544+1G>A rs1592839705
NM_170665.4(ATP2A2):c.68G>A (p.Gly23Glu) rs28929478
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) rs61282106
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn) rs59981161
NM_170707.4(LMNA):c.1488+5G>C rs267607543
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.4(LMNA):c.1585G>A (p.Ala529Thr) rs121912494
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) rs60580541
NM_170707.4(LMNA):c.1608+1G>A rs267607592
NM_170707.4(LMNA):c.1620G>A (p.Met540Ile) rs483352811
NM_170707.4(LMNA):c.1626G>C (p.Lys542Asn) rs56673169
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly) rs28928900
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) rs56793579
NM_170707.4(LMNA):c.1961dup (p.Thr655fs) rs863225024
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) rs60864230
NM_170707.4(LMNA):c.688G>A (p.Asp230Asn) rs61214927
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172232.4(ABCA5):c.4320+1G>C rs199753304
NM_172341.4(PSENEN):c.167-2A>G rs1555738903
NM_172341.4(PSENEN):c.194T>G (p.Leu65Arg) rs1555738906
NM_172341.4(PSENEN):c.279del (p.Phe94fs) rs1555738943
NM_172341.4(PSENEN):c.35T>A (p.Leu12Ter) rs1555738763
NM_172341.4(PSENEN):c.62-1G>C rs1555738836
NM_173076.3(ABCA12):c.(872+1_873-1)_(985+1_986-1)del (p.Ser291Argfs)
NM_173076.3(ABCA12):c.1210C>T (p.Arg404Ter) rs1458824013
NM_173076.3(ABCA12):c.2658_2661del (p.Glu886fs) rs2105992974
NM_173076.3(ABCA12):c.3535G>A (p.Gly1179Arg) rs267606622
NM_173076.3(ABCA12):c.3548A>G (p.Tyr1183Cys)
NM_173076.3(ABCA12):c.3656C>T (p.Ala1219Val) rs80181772
NM_173076.3(ABCA12):c.3666C>A (p.Tyr1222Ter)
NM_173076.3(ABCA12):c.3882G>A (p.Trp1294Ter) rs1452228678
NM_173076.3(ABCA12):c.4142G>A (p.Gly1381Glu) rs28940268
NM_173076.3(ABCA12):c.4615G>A (p.Glu1539Lys) rs28940271
NM_173076.3(ABCA12):c.5012del (p.Asn1671fs) rs387906285
NM_173076.3(ABCA12):c.5046_5050del (p.Lys1682fs)
NM_173076.3(ABCA12):c.5469_5472del
NM_173076.3(ABCA12):c.5743dup (p.Ile1915fs) rs1559120651
NM_173076.3(ABCA12):c.5848C>T (p.Arg1950Ter)
NM_173076.3(ABCA12):c.6234-1G>C rs1553520468
NM_173076.3(ABCA12):c.7323del (p.Val2442fs) rs387906284
NM_173076.3(ABCA12):c.7344-1G>C rs2105917562
NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter) rs11891778
NM_173086.5(KRT6C):c.1384_1410del (p.Ile462_Glu470del) rs267607475
NM_173086.5(KRT6C):c.1414G>A (p.Glu472Lys) rs587777292
NM_173086.5(KRT6C):c.510CAA[2] (p.Asn172del) rs267607474
NM_173483.3(CYP4F22):c.1138del rs1568364107
NM_173483.4(CYP4F22):c.1084C>G (p.Arg362Gly) rs745368359
NM_173483.4(CYP4F22):c.1137-18_1137-4del rs1568364101
NM_173483.4(CYP4F22):c.1163C>A (p.Thr388Lys) rs1568364117
NM_173483.4(CYP4F22):c.1306C>G (p.His436Asp) rs118203936
NM_173483.4(CYP4F22):c.1351C>T (p.Arg451Cys) rs200581968
NM_173483.4(CYP4F22):c.1352G>C (p.Arg451Pro) rs144961059
NM_173483.4(CYP4F22):c.1424G>A (p.Cys475Tyr) rs1403531884
NM_173483.4(CYP4F22):c.1488C>G (p.Phe496Leu) rs1568365205
NM_173483.4(CYP4F22):c.1532A>G (p.Glu511Gly) rs1167473603
NM_173483.4(CYP4F22):c.1563G>A (p.Trp521Ter) rs1360295659
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_173483.4(CYP4F22):c.242G>A (p.Gly81Asp) rs369811073
NM_173483.4(CYP4F22):c.296G>A (p.Trp99Ter) rs2144518363
NM_173483.4(CYP4F22):c.367+1G>A rs1568357749
NM_173483.4(CYP4F22):c.429dup (p.Leu144fs) rs1382435790
NM_173483.4(CYP4F22):c.493_499delinsCTTGATT (p.Phe165_Ile167delinsLeuAspPhe) rs1568360348
NM_173483.4(CYP4F22):c.549+5G>C rs1568360387
NM_173483.4(CYP4F22):c.550-2A>T rs1568360475
NM_173483.4(CYP4F22):c.592G>T (p.Asp198Tyr) rs1568360526
NM_173483.4(CYP4F22):c.643_644del (p.Val215fs) rs1568360554
NM_173483.4(CYP4F22):c.720_723del (p.Val241fs) rs751937099
NM_173483.4(CYP4F22):c.912C>A (p.Asp304Glu) rs1159994392
NM_173483.4(CYP4F22):c.917T>C (p.Ile306Thr) rs370734976
NM_173483.4(CYP4F22):c.940-1G>A rs1568362605
NM_173483.4(CYP4F22):c.981del (p.Glu328fs) rs1568362644
NM_177973.2(SULT2B1):c.364dup (p.Met122fs) rs1114167425
NM_177973.2(SULT2B1):c.446C>T (p.Pro149Leu) rs1114167424
NM_177973.2(SULT2B1):c.71+2T>A rs1114167426
NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys) rs587777357
NM_178014.4(TUBB):c.43C>A (p.Gln15Lys) rs864321676
NM_178014.4(TUBB):c.665A>T (p.Tyr222Phe) rs864321677
NM_178014.4(TUBB):c.860C>T (p.Pro287Leu) rs1554202416
NM_181507.2(HPS5):c.107del (p.Lys36fs) rs1554948134
NM_181507.2(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.1900del (p.Glu634fs) rs1131692146
NM_181507.2(HPS5):c.2026_2029del (p.Val676fs) rs281865103
NM_181507.2(HPS5):c.219G>A (p.Arg73=) rs1131692150
NM_181507.2(HPS5):c.2219T>C (p.Leu740Ser) rs1131692149
NM_181507.2(HPS5):c.2624del (p.Leu875fs) rs281865105
NM_181507.2(HPS5):c.2750_2751del (p.Glu917fs) rs1131692151
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs) rs397507169
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs) rs886041723
NM_181507.2(HPS5):c.3058+3A>G rs113304476
NM_181507.2(HPS5):c.3096_3098del (p.Leu1033del) rs753928208
NM_181507.2(HPS5):c.739dup (p.Glu247fs)
NM_181507.2(HPS5):c.818_822del (p.Thr273fs) rs1131692147
NM_181507.2(HPS5):c.879dup (p.Lys294fs) rs281865101
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter)
NM_181523.3(PIK3R1):c.1306_1313del (p.Val436fs)
NM_181523.3(PIK3R1):c.1314_1317del (p.Glu439fs)
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs) rs1289537429
NM_181523.3(PIK3R1):c.1344dup (p.Leu449fs) rs1289537429
NM_181523.3(PIK3R1):c.1350_1360del (p.Glu451fs)
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) rs1057519838
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_181523.3(PIK3R1):c.1425+1G>T rs587777709
NM_181523.3(PIK3R1):c.1425+2T>A rs1554051075
NM_181523.3(PIK3R1):c.1465G>A (p.Glu489Lys) rs397514047
NM_181523.3(PIK3R1):c.1612ATT[1] (p.Ile539del) rs397514046
NM_181523.3(PIK3R1):c.1650_1674del (p.Lys551fs)
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys) rs773686816
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) rs1561299903
NM_181523.3(PIK3R1):c.1906_1907insC (p.Asn636fs) rs398122385
NM_181523.3(PIK3R1):c.1943dup (p.Arg649fs) rs398122384
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.450C>G (p.Tyr150Ter) rs1339790364
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter) rs397509384
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter) rs367669362
NM_181523.3(PIK3R1):c.916+1G>A rs2112197421
NM_181523.3(PIK3R1):c.965del (p.Met322fs) rs1580260232
NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile) rs2140989874
NM_183235.3(RAB27A):c.137T>G (p.Phe46Cys) rs1896185846
NM_183235.3(RAB27A):c.147_148del (p.Arg50fs)
NM_183235.3(RAB27A):c.148del (p.Arg50fs)
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly) rs28938176
NM_183235.3(RAB27A):c.239+3A>G rs1595695268
NM_183235.3(RAB27A):c.240-2A>C
NM_183235.3(RAB27A):c.251dup (p.Leu84fs) rs1895911610
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_183235.3(RAB27A):c.335del (p.Asn112fs) rs756644243
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
NM_183235.3(RAB27A):c.377del (p.Pro126fs) rs1895696380
NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro) rs104894498
NM_183235.3(RAB27A):c.400A>G (p.Lys134Glu) rs2140958637
NM_183235.3(RAB27A):c.423_424del (p.Arg141fs) rs766575263
NM_183235.3(RAB27A):c.439G>T (p.Glu147Ter) rs75258234
NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro) rs104894499
NM_183235.3(RAB27A):c.460A>T (p.Lys154Ter) rs2140958324
NM_183235.3(RAB27A):c.465T>A (p.Tyr155Ter)
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_183235.3(RAB27A):c.467+3_467+6del
NM_183235.3(RAB27A):c.467+5G>A rs2140958268
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_183235.3(RAB27A):c.53_54del (p.Ser18fs) rs1595700039
NM_183235.3(RAB27A):c.638_642del (p.Glu213fs)
NM_194248.3(OTOF):c.4759A>T (p.Lys1587Ter)
NM_198129.4(LAMA3):c.1273+26_1273+41del
NM_198129.4(LAMA3):c.1273+51C>T
NM_198129.4(LAMA3):c.5121del (p.Gln1707fs)
NM_198129.4(LAMA3):c.5162del (p.Gly1721fs)
NM_198129.4(LAMA3):c.5546del (p.Gly1849fs) rs760487161
NM_198129.4(LAMA3):c.5596C>T (p.Gln1866Ter) rs763060857
NM_198129.4(LAMA3):c.6041del (p.Gln2014fs) rs1555731178
NM_198129.4(LAMA3):c.6232_6233del (p.Gln2077_Ser2078insTer) rs1158945258
NM_198129.4(LAMA3):c.6319-1G>T rs2081155250
NM_198129.4(LAMA3):c.6348_6352delinsCTGGCAAGA (p.Glu2117fs) rs2081156116
NM_198129.4(LAMA3):c.6943A>T (p.Arg2315Ter) rs80356679
NM_198129.4(LAMA3):c.7828C>T (p.Arg2610Ter) rs768415785
NM_198129.4(LAMA3):c.8302C>T (p.Arg2768Ter) rs998162536
NM_198129.4(LAMA3):c.8436+1G>A rs886039412
NM_198129.4(LAMA3):c.8755A>T (p.Lys2919Ter) rs2145417826
NM_198129.4(LAMA3):c.8962C>T (p.Gln2988Ter) rs137852758
NM_198129.4(LAMA3):c.9856G>T (p.Ala3286Ser) rs2082978607
NM_198253.3(TERT):c.1048_1049del (p.Leu350fs) rs1554042899
NM_198253.3(TERT):c.1070del (p.Ala357fs)
NM_198253.3(TERT):c.10_11dup (p.Pro5fs) rs2126693109
NM_198253.3(TERT):c.1122_1134del (p.Thr375fs) rs1751159700
NM_198253.3(TERT):c.1122del (p.Thr375fs) rs2126685887
NM_198253.3(TERT):c.1141del (p.Arg381fs)
NM_198253.3(TERT):c.1156_1171del (p.Tyr386fs) rs1751155195
NM_198253.3(TERT):c.1174_1175del (p.Leu392fs)
NM_198253.3(TERT):c.1246C>T (p.Arg416Ter)
NM_198253.3(TERT):c.1285G>T (p.Glu429Ter) rs1561213553
NM_198253.3(TERT):c.1314del (p.Glu439fs) rs2126684848
NM_198253.3(TERT):c.131dup (p.Ala45fs)
NM_198253.3(TERT):c.1379del (p.Gln460fs)
NM_198253.3(TERT):c.1424del (p.Pro475fs) rs2126684234
NM_198253.3(TERT):c.1434G>A (p.Trp478Ter) rs1751122711
NM_198253.3(TERT):c.1450G>T (p.Glu484Ter) rs1561213355
NM_198253.3(TERT):c.1452A>C (p.Glu484Asp)
NM_198253.3(TERT):c.1453del (p.Arg485fs)
NM_198253.3(TERT):c.1471del (p.Thr491fs)
NM_198253.3(TERT):c.1612G>T (p.Glu538Ter) rs2126649912
NM_198253.3(TERT):c.162C>A (p.Cys54Ter) rs1751289309
NM_198253.3(TERT):c.1685_1686del (p.Tyr562fs) rs1579580058
NM_198253.3(TERT):c.16_37del (p.Arg6fs)
NM_198253.3(TERT):c.1712del (p.Asn571fs) rs1750090102
NM_198253.3(TERT):c.1743G>A (p.Trp581Ter) rs1750086002
NM_198253.3(TERT):c.1805C>A (p.Ser602Ter)
NM_198253.3(TERT):c.180G>A (p.Trp60Ter) rs1554043139
NM_198253.3(TERT):c.1831G>T (p.Glu611Ter)
NM_198253.3(TERT):c.1837_1841del (p.Leu616fs)
NM_198253.3(TERT):c.1871_1872dup (p.Pro625fs) rs2126644399
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) rs1194223999
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.3(TERT):c.198dup (p.Ala67fs) rs2126691416
NM_198253.3(TERT):c.2098C>T (p.Gln700Ter) rs878855300
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.3(TERT):c.2315_2330del (p.Tyr772fs) rs2126617841
NM_198253.3(TERT):c.2323C>T (p.Gln775Ter)
NM_198253.3(TERT):c.2380C>T (p.Gln794Ter)
NM_198253.3(TERT):c.2461_2462del (p.Arg821fs)
NM_198253.3(TERT):c.2461del (p.Arg821fs) rs2126614292
NM_198253.3(TERT):c.247C>T (p.Arg83Ter) rs867642414
NM_198253.3(TERT):c.2540dup (p.Asp848fs) rs1748786633
NM_198253.3(TERT):c.2599G>A (p.Val867Met) rs201159197
NM_198253.3(TERT):c.2630_2634del (p.Leu877fs)
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2704A>T (p.Lys902Ter) rs1748461171
NM_198253.3(TERT):c.2706G>C (p.Lys902Asn) rs121918665
NM_198253.3(TERT):c.2723C>T (p.Pro908Leu) rs2126595178
NM_198253.3(TERT):c.2752del (p.Ala918fs)
NM_198253.3(TERT):c.2790G>A (p.Trp930Ter)
NM_198253.3(TERT):c.2808_2815del (p.Thr937fs)
NM_198253.3(TERT):c.2839T>C (p.Ser947Pro) rs915854031
NM_198253.3(TERT):c.2924_2925del (p.Phe975fs)
NM_198253.3(TERT):c.2943del (p.Lys981fs)
NM_198253.3(TERT):c.3073G>T (p.Val1025Phe)
NM_198253.3(TERT):c.3073del (p.Val1025fs)
NM_198253.3(TERT):c.3087del (p.Thr1030fs)
NM_198253.3(TERT):c.3110_3111del (p.Ile1036_Ser1037insTer) rs1554038257
NM_198253.3(TERT):c.3211C>T (p.Gln1071Ter) rs1747568641
NM_198253.3(TERT):c.3235del (p.Leu1079fs) rs1270172263
NM_198253.3(TERT):c.329del (p.Gly110fs) rs1554043093
NM_198253.3(TERT):c.3346G>C (p.Glu1116Gln) rs1196160200
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.489_493del (p.Pro164fs)
NM_198253.3(TERT):c.505C>T (p.Gln169Ter)
NM_198253.3(TERT):c.57_58del (p.Glu20fs)
NM_198253.3(TERT):c.598G>T (p.Glu200Ter) rs1322987070
NM_198253.3(TERT):c.613dup (p.His205fs) rs1751227147
NM_198253.3(TERT):c.688C>T (p.Arg230Ter) rs989271195
NM_198253.3(TERT):c.735_745del (p.Glu245fs)
NM_198253.3(TERT):c.757C>T (p.Gln253Ter)
NM_198253.3(TERT):c.767G>A (p.Trp256Ter) rs2126687935
NM_198253.3(TERT):c.809dup (p.Cys271fs)
NM_198253.3(TERT):c.89_98del (p.Arg30fs)
NM_198253.3(TERT):c.923del (p.Pro308fs)
NM_198253.3(TERT):c.923dup (p.Ser309fs) rs1191885727
NM_198253.3(TERT):c.950G>A (p.Trp317Ter)
NM_198253.3(TERT):c.970del (p.Val324fs)
NM_198253.3(TERT):c.996del (p.Tyr333fs) rs2126686445
NM_198947.4(FAM111B):c.1861T>G (p.Tyr621Asp) rs587777236
NM_198947.4(FAM111B):c.1879A>G (p.Arg627Gly) rs587777237
NM_198947.4(FAM111B):c.1883G>A (p.Ser628Asn) rs587777238
NM_198947.4(FAM111B):c.1886T>G (p.Phe629Cys) rs2135405575
NM_201280.2:c.196-678_384+3483del
NM_201280.3(BLOC1S5):c.2T>G (p.Met1Arg)
NM_201280.3(BLOC1S5):c.345del (p.Val116fs) rs1763106978
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter) rs2132991341
NM_201384.3(PLEC):c.10702G>T (p.Glu3568Ter)
NM_201384.3(PLEC):c.11187dup (p.Thr3730fs)
NM_201384.3(PLEC):c.1188_1192dup (p.Val398fs)
NM_201384.3(PLEC):c.11962dup (p.Glu3988fs) rs864309674
NM_201384.3(PLEC):c.12201C>G (p.Tyr4067Ter)
NM_201384.3(PLEC):c.1240C>T (p.Gln414Ter) rs1554719990
NM_201384.3(PLEC):c.12418C>T (p.Arg4140Ter) rs1554671979
NM_201384.3(PLEC):c.12517G>T (p.Glu4173Ter)
NM_201384.3(PLEC):c.1263G>A (p.Ser421=) rs864309672
NM_201384.3(PLEC):c.12926dup (p.Arg4310fs) rs2130817714
NM_201384.3(PLEC):c.13106C>A (p.Ser4369Ter) rs1554669959
NM_201384.3(PLEC):c.1405C>T (p.Gln469Ter) rs879255260
NM_201384.3(PLEC):c.1465_1471del (p.Asn489fs) rs2131949494
NM_201384.3(PLEC):c.1675C>T (p.Arg559Ter)
NM_201384.3(PLEC):c.2069_2073del (p.Arg690fs)
NM_201384.3(PLEC):c.2455G>T (p.Glu819Ter) rs1554713693
NM_201384.3(PLEC):c.2475dup (p.Asp826Ter)
NM_201384.3(PLEC):c.2503C>T (p.Gln835Ter) rs2131772658
NM_201384.3(PLEC):c.2551del (p.Val851fs) rs2131767962
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) rs786205252
NM_201384.3(PLEC):c.2600_2612+1del rs864309671
NM_201384.3(PLEC):c.2623C>T (p.Gln875Ter)
NM_201384.3(PLEC):c.2726G>A (p.Trp909Ter) rs2131745242
NM_201384.3(PLEC):c.2917G>T (p.Glu973Ter)
NM_201384.3(PLEC):c.3874C>T (p.Gln1292Ter) rs2131581257
NM_201384.3(PLEC):c.3973G>T (p.Glu1325Ter)
NM_201384.3(PLEC):c.4468C>T (p.Arg1490Ter) rs1554702689
NM_201384.3(PLEC):c.448C>T (p.Gln150Ter)
NM_201384.3(PLEC):c.4534C>T (p.Gln1512Ter)
NM_201384.3(PLEC):c.4606C>T (p.Gln1536Ter) rs2131471759
NM_201384.3(PLEC):c.46C>T (p.Arg16Ter) rs374419983
NM_201384.3(PLEC):c.4903C>T (p.Gln1635Ter)
NM_201384.3(PLEC):c.5024_5031del (p.Arg1675fs) rs786205254
NM_201384.3(PLEC):c.5170C>T (p.Gln1724Ter) rs2131422085
NM_201384.3(PLEC):c.5192dup (p.Leu1732fs)
NM_201384.3(PLEC):c.535C>T (p.Arg179Ter)
NM_201384.3(PLEC):c.5645_5646del (p.Glu1882fs)
NM_201384.3(PLEC):c.5663del (p.Lys1888fs) rs1824069966
NM_201384.3(PLEC):c.5689C>T (p.Gln1897Ter)
NM_201384.3(PLEC):c.5734del (p.Leu1912fs) rs786205253
NM_201384.3(PLEC):c.5775_5782dup (p.Leu1928fs) rs786205251
NM_201384.3(PLEC):c.6025del (p.Glu2009fs)
NM_201384.3(PLEC):c.6079C>T (p.Arg2027Ter) rs368550010
NM_201384.3(PLEC):c.6088C>T (p.Gln2030Ter) rs387906801
NM_201384.3(PLEC):c.6217C>T (p.Gln2073Ter)
NM_201384.3(PLEC):c.6370C>T (p.Gln2124Ter)
NM_201384.3(PLEC):c.6510del (p.His2170fs) rs2131325419
NM_201384.3(PLEC):c.6553G>T (p.Glu2185Ter)
NM_201384.3(PLEC):c.6862C>T (p.Gln2288Ter)
NM_201384.3(PLEC):c.7078G>T (p.Glu2360Ter) rs2131284343
NM_201384.3(PLEC):c.7180C>T (p.Arg2394Ter) rs886044894
NM_201384.3(PLEC):c.7312C>T (p.Arg2438Ter)
NM_201384.3(PLEC):c.7336G>T (p.Glu2446Ter) rs376827900
NM_201384.3(PLEC):c.7425+1G>A
NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs) rs1554689309
NM_201384.3(PLEC):c.7964_7968del (p.Ala2655fs)
NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs) rs1186518181
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter) rs1554686620
NM_201384.3(PLEC):c.832C>T (p.Gln278Ter) rs137853160
NM_201384.3(PLEC):c.8363_8366del (p.Leu2788fs)
NM_201384.3(PLEC):c.864GCT[3] (p.Leu292del) rs1554721492
NM_201384.3(PLEC):c.875T>C (p.Leu292Pro) rs1319844752
NM_201384.3(PLEC):c.8776del (p.Glu2926fs)
NM_201384.3(PLEC):c.8807_8832dup (p.Phe2945fs)
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter) rs137853161
NM_201384.3(PLEC):c.9022C>T (p.Arg3008Ter) rs1410984638
NM_201384.3(PLEC):c.9294del (p.Glu3099fs) rs1822243280
NM_201384.3(PLEC):c.9312del (p.Tyr3105fs) rs2131081539
NM_201384.3(PLEC):c.949del (p.Leu317fs)
NM_201384.3(PLEC):c.9558_9559del (p.Glu3188fs) rs1554681167
NM_201384.3(PLEC):c.9586C>T (p.Gln3196Ter)
NM_201631.4(TGM5):c.1811_1815delinsTCCTTCA (p.Ser604fs) rs606231278
NM_201631.4(TGM5):c.255del (p.Ser86fs) rs778322388
NM_205850.3(SLC24A5):c.1361dup (p.Leu454fs) rs886037644
NM_205850.3(SLC24A5):c.494C>G (p.Ser165Ter)
NM_205850.3(SLC24A5):c.503C>G (p.Ser168Ter) rs977118193
NM_205850.3(SLC24A5):c.521G>A (p.Arg174Lys) rs1555452572
NM_205850.3(SLC24A5):c.528T>A (p.Cys176Ter) rs1555452574
NM_205850.3(SLC24A5):c.591G>A (p.Trp197Ter) rs886037643
NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter) rs1777038679
NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys) rs1785841426
NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter) rs1777036380
NM_207118.3(GTF2H5):c.62T>C (p.Leu21Pro) rs121434365
NM_212550.5(BLOC1S3):c.101C>A (p.Ser34Ter) rs567410388
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs) rs1568469902
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs) rs1969482515
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del) rs754841982
NM_212550.5(BLOC1S3):c.448del (p.Gln150fs) rs281865116
NR_001566.1(TERC):n.374_1194del821 rs1553915517
NR_001566.3(TERC):n.100T>A rs199422269
NR_001566.3(TERC):n.107_108delGCinsAG rs199476393
NR_001566.3(TERC):n.108_111delCTGA rs199422270
NR_001566.3(TERC):n.116C>T rs199422272
NR_001566.3(TERC):n.143G>A rs199422274
NR_001566.3(TERC):n.204C>G rs199422277
NR_001566.3(TERC):n.211_224delCCTGCGGCGGGTCG rs199422278
NR_001566.3(TERC):n.2G>C rs199422257
NR_001566.3(TERC):n.408C>G rs199422284
NR_001566.3(TERC):n.48A>G rs199422262
NR_001566.3(TERC):n.52_55delCTAA rs199422263
NR_001566.3(TERC):n.52_86del35 rs199422264
NR_001566.3(TERC):n.79delC rs199422266
NR_001566.3(TERC):n.96_97delCT rs199422267
NR_003051.3(RMRP):n.-13_1dup14 rs1554651373
NR_003051.3(RMRP):n.-14_3dup rs878853178
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-5_-4insAACTACTCTGTGAAGCTGA
NR_003051.3(RMRP):n.-6_-5insCCTGAG rs1554651446
NR_003051.3(RMRP):n.-7_1dup8 rs752934195
NR_003051.3(RMRP):n.-8_-7ins17 rs1554651469
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.4(RMRP):n.-18_-17insTCTGTGAAGCTGAGGAC
NR_003051.4(RMRP):n.-18_-2dup rs727502778
NR_003051.4(RMRP):n.-21_-2dup rs1554651411
NR_003051.4(RMRP):n.-23_-14dup rs1554651532
NR_003051.4(RMRP):n.-24_-3dup rs1554651423
NR_003051.4(RMRP):n.-5_+5dup
NR_003051.4(RMRP):n.-7_-6insGGGACTACTCTGTGAAGCTG rs1554651471
NR_003051.4(RMRP):n.156G>T rs752709977
NR_003051.4(RMRP):n.182G>A rs1004469515
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.246G>C
NR_003051.4(RMRP):n.94dup rs2131808768
NR_003051.4(RMRP):n.97_98dup rs1340624774
P127L
POLH, 2-BP DEL, NT770
POLH, DEL AND TRP297TER
PPOX, IVS11DS, G-A, -1
PTEN, DEL
RMRP, 1-BP DEL/21-BP INS, PROMOTER
Single allele
TERT:c.1710G>Y (p.Lys570Asn) rs1554041299
TGM1, -86C-T
TP63, VAL114MET
UROS, 80-BP INS
XM_011517384.2:c.1149G>A
g.6109607_6112272del
g.6116239_6120157del
inv(8)(q13q24.1)
inv(8)(q21.1q24.1)
nsv1067844
nsv1197574

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