ClinVar Miner

List of variants reported as likely pathogenic for ectodermal dysplasia syndrome

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1467
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys) rs141074983 0.00080
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter) rs367810877 0.00024
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter) rs150954655 0.00015
NR_003051.4(RMRP):n.240C>T rs749667892 0.00015
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958 0.00013
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00012
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln) rs782604431 0.00011
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_025132.4(WDR19):c.1250-1G>A rs1327583103 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NC_000009.12:g.35658031_35658040dup rs1554651507 0.00007
NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter) rs201794999 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_052989.3(IFT122):c.272+1G>A rs372483083 0.00007
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00006
NM_001283009.2(RTEL1):c.3110-2A>T rs377461417 0.00006
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710 0.00006
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NR_003051.4(RMRP):n.37C>T rs549085067 0.00006
NC_000009.12:g.35658031_35658037dup rs1554651506 0.00005
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_020779.4(WDR35):c.2415-2A>G rs143550695 0.00005
NM_020779.4(WDR35):c.2842A>T (p.Lys948Ter) rs749233041 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NC_000016.10:g.67660342del rs753666055 0.00004
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter) rs768687646 0.00004
NM_000400.4(ERCC2):c.1377+2T>C rs201505264 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_000400.4(ERCC2):c.466C>T (p.Arg156Ter) rs151235136 0.00004
NM_002582.4(PARN):c.448C>T (p.Arg150Cys) rs777558836 0.00004
NM_002582.4(PARN):c.692A>G (p.Glu231Gly) rs757910862 0.00004
NM_020779.4(WDR35):c.1255+1G>A rs371669862 0.00004
NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs) rs1353172956 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00004
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_198253.3(TERT):c.2368G>A (p.Val790Ile) rs371413388 0.00004
NR_003051.3(RMRP):n.-25_-3dup rs1554651413 0.00004
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NC_000009.12:g.35658018_35658038dup rs1563907710 0.00003
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter) rs778865255 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.3376C>T (p.Gln1126Ter) rs778734749 0.00003
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00003
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226 0.00003
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg) rs376923069 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 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.2960G>A (p.Arg987Gln) rs769617113 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.3659+2T>C rs200300612 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_198253.3(TERT):c.193C>G (p.Pro65Ala) rs544215765 0.00003
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His) rs183758503 0.00003
NR_003051.3(RMRP):n.-14_-2dup13 rs1554651400 0.00003
NC_000009.12:g.35658024_35658040dup rs727502777 0.00002
NM_000122.2(ERCC3):c.1757_1758del (p.Gln586fs) rs774261851 0.00002
NM_000400.4(ERCC2):c.1666-2A>T rs199658345 0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg) rs770330002 0.00002
NM_004278.4(PIGL):c.660+1G>T rs768198327 0.00002
NM_020779.4(WDR35):c.136C>T (p.Gln46Ter) rs767788330 0.00002
NM_020779.4(WDR35):c.1382G>A (p.Arg461Gln) rs200140363 0.00002
NM_025099.6(CTC1):c.2758+1G>T rs200609323 0.00002
NM_025216.3(WNT10A):c.311G>A (p.Arg104His) rs374910216 0.00002
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) rs762739726 0.00002
NM_030662.4(MAP2K2):c.528G>A (p.Ala176=) rs767939999 0.00002
NM_052989.3(IFT122):c.1148-1G>C rs755005244 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.2829+1G>A rs752255602 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_153717.3(EVC):c.2562-2A>G rs1293098417 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NR_003051.3(RMRP):n.-24_-12dupACTACTCTGTGAA rs781730798 0.00002
NC_000009.12:g.35658020_35658038dup rs1554651404 0.00001
NC_000009.12:g.35658023_35658041dup rs1554651428 0.00001
NC_000009.12:g.35658024_35658041dup rs1554651453 0.00001
NC_000009.12:g.35658025_35658031dup rs1554651462 0.00001
NC_000009.12:g.35658026_35658043dup rs1554651473 0.00001
NC_000009.12:g.35658028_35658041dup rs1554651489 0.00001
NC_000009.12:g.35658033_35658040dup rs1563908212 0.00001
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter) rs1055129064 0.00001
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter) rs1302552127 0.00001
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter) rs763315862 0.00001
NM_000122.2(ERCC3):c.657+1G>A rs56116802 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000400.4(ERCC2):c.1308-2A>G rs766369300 0.00001
NM_000400.4(ERCC2):c.1759-2A>G rs774936846 0.00001
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter) rs774392894 0.00001
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys) rs760820378 0.00001
NM_001102564.3(IFT43):c.214_215+2del rs777112610 0.00001
NM_001283009.2(RTEL1):c.1037+1G>T rs895722334 0.00001
NM_001283009.2(RTEL1):c.1266+2T>G rs1444392809 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.458_459del (p.Gln153fs) rs773025155 0.00001
NM_002755.4(MAP2K1):c.427A>G (p.Met143Val) rs533695080 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004415.4(DSP):c.2436+2T>C rs774514264 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.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_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119 0.00001
NM_022336.4(EDAR):c.175-2A>G rs757233170 0.00001
NM_022336.4(EDAR):c.973C>T (p.Arg325Trp) rs755654853 0.00001
NM_024589.3(ROGDI):c.117+1G>A rs570952151 0.00001
NM_024589.3(ROGDI):c.645+2T>A rs754417953 0.00001
NM_025099.6(CTC1):c.1818+1G>A rs773716148 0.00001
NM_025099.6(CTC1):c.2385+2T>C rs1597378045 0.00001
NM_025099.6(CTC1):c.2386-1G>A rs199861310 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 0.00001
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) rs1237494778 0.00001
NM_025132.4(WDR19):c.1982+2T>C rs780847651 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025216.3(WNT10A):c.1028C>T (p.Pro343Leu) rs1944675271 0.00001
NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys) rs764658964 0.00001
NM_025216.3(WNT10A):c.403G>A (p.Ala135Thr) rs1402990329 0.00001
NM_025216.3(WNT10A):c.627G>A (p.Trp209Ter) rs1306584103 0.00001
NM_025216.3(WNT10A):c.910A>C (p.Asn304His) rs1434390821 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro) rs372355939 0.00001
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter) rs1185183557 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs) rs1159758018 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.3361-2A>G rs1036371676 0.00001
NM_147127.5(EVC2):c.3361-2del rs757914735 0.00001
NM_147127.5(EVC2):c.450+2T>C rs781096099 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.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_153717.3(EVC):c.1387dup (p.Thr463fs) rs1317662938 0.00001
NM_153717.3(EVC):c.1564-2A>G rs1553886849 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 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.2078G>A (p.Trp693Ter) rs1714132239 0.00001
NM_153717.3(EVC):c.2098-1G>A rs773019082 0.00001
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358 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.702+1G>A rs1553867138 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_198253.3(TERT):c.1700C>T (p.Thr567Met) rs886039438 0.00001
NM_198253.3(TERT):c.2005C>T (p.Arg669Trp) rs372140951 0.00001
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) rs1060503011 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu) rs754809046 0.00001
NM_198253.3(TERT):c.2227C>T (p.Arg743Trp) rs1388515349 0.00001
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp) rs199422304 0.00001
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp) rs1422814635 0.00001
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp) rs370445231 0.00001
NM_207118.3(GTF2H5):c.36-2A>G rs765378190 0.00001
NR_003051.3(RMRP):n.-16_-4dup rs1554651422 0.00001
NR_003051.3(RMRP):n.-19_-12dup8 rs1554651505 0.00001
NR_003051.3(RMRP):n.-20_-8dup rs1823640657 0.00001
NR_003051.3(RMRP):n.-22_-4dup rs1554651427 0.00001
NR_003051.3(RMRP):n.-3_1dupCGTG rs1554651381 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
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
NC_000001.10:g.(103388956_103400026)_(104094395_?)del
NC_000001.10:g.(?_236631511)_(236631596_?)dup
NC_000003.11:g.(?_129168694)_(129236457_?)dup
NC_000003.12:g.(?_169481351)_(169484227_?)del
NC_000003.12:g.169482484_169482497del rs1751472744
NC_000003.12:g.169482734_169482735del rs1751515631
NC_000003.12:g.169482735del rs1751515079
NC_000004.11:g.(?_5567008)_(5587839_?)dup
NC_000004.11:g.(?_5612949)_(5633604_?)del
NC_000004.11:g.(?_5630335)_(5635926_?)del
NC_000004.11:g.(?_5630338)_(5635928_?)del
NC_000004.11:g.(?_5713108)_(5714221_?)del
NC_000004.11:g.(?_5733132)_(5735182_?)del
NC_000004.11:g.(?_5733142)_(5735172_?)del
NC_000004.11:g.(?_5754598)_(5758602_?)del
NC_000004.11:g.(?_5785269)_(5803831_?)dup
NC_000004.11:g.(?_5803694)_(5804872_?)del
NC_000005.9:g.(?_1282524)_(1282759_?)dup
NC_000006.11:g.(?_7552967)_(7579627_?)del
NC_000006.11:g.(?_7565582)_(7568149_?)del
NC_000006.11:g.(?_7576220)_(7581055_?)del
NC_000008.10:g.(?_116613171)_(116616277_?)del
NC_000009.12:g.35657872C>T rs753874439
NC_000009.12:g.35658016_35658043dup
NC_000009.12:g.35658018_35658026dup rs1554651365
NC_000009.12:g.35658018_35658037dup rs1554651382
NC_000009.12:g.35658018_35658040dup rs1554651376
NC_000009.12:g.35658018_35658041dup rs2131809417
NC_000009.12:g.35658019_35658038dup rs2131809449
NC_000009.12:g.35658020_35658037dup rs1554651396
NC_000009.12:g.35658020_35658043dup rs1823632816
NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3] rs1563907859
NC_000009.12:g.35658022_35658031dup rs1554651424
NC_000009.12:g.35658022_35658032dup rs1554651425
NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3] rs727502778
NC_000009.12:g.35658023_35658037dup rs1823637565
NC_000009.12:g.35658023_35658038dup rs1823637651
NC_000009.12:g.35658024_35658038dup
NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA rs2131809783
NC_000009.12:g.35658025_35658032dup rs1563907946
NC_000009.12:g.35658025_35658039dup rs1823639713
NC_000009.12:g.35658026_35658032dup rs2131809964
NC_000009.12:g.35658026_35658037dup rs2131809978
NC_000009.12:g.35658026_35658042dup rs920074067
NC_000009.12:g.35658029_35658036dup rs1230629953
NC_000009.12:g.35658029_35658038dup rs1554651481
NC_000009.12:g.35658029_35658041dup rs751921616
NC_000009.12:g.35658032_35658038dup
NC_000009.12:g.35658032_35658041dup rs1554651524
NC_000009.12:g.35658032_35658043dup rs1554651526
NC_000009.12:g.35658032_35658044dup rs1554651508
NC_000009.12:g.35658032_35658045dup rs1554651499
NC_000009.12:g.35658036_35658037insGTCCCCAGCTTCACAGA rs1823648167
NC_000009.12:g.35658036_35658042dup rs1554651543
NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT
NC_000009.12:g.35658041_35658042insGTGAGTAG rs930432793
NC_000016.9:g.(?_14645858)_(14649586_?)dup
NC_000016.9:g.(?_14645868)_(14711517_?)dup
NC_000016.9:g.(?_14693741)_(14704686_?)dup
NC_000016.9:g.(?_14711427)_(14711527_?)dup
NC_000020.10:g.(?_62292641)_(62327221_?)del
NC_000020.10:g.(?_62298812)_(62298916_?)dup
NC_000020.10:g.(?_62309488)_(62312082_?)dup
NC_000020.10:g.(?_62316041)_(62319096_?)del
NC_000020.10:g.(?_62324287)_(62324806_?)del
NC_000023.10:g.(?_69176857)_(69247906_?)dup
NM_000122.2(ERCC3):c.1114del (p.Glu372fs)
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) rs770925947
NM_000122.2(ERCC3):c.1828-1G>C
NM_000122.2(ERCC3):c.1832del (p.Gly611fs)
NM_000165.5(GJA1):c.121G>C (p.Val41Leu)
NM_000165.5(GJA1):c.131C>T (p.Ala44Val) rs794729675
NM_000165.5(GJA1):c.142G>A (p.Glu48Lys) rs1773899790
NM_000165.5(GJA1):c.179G>C (p.Gly60Ala)
NM_000165.5(GJA1):c.196T>C (p.Tyr66His) rs2114283106
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.226C>T (p.Arg76Cys)
NM_000165.5(GJA1):c.235G>A (p.Val79Ile)
NM_000165.5(GJA1):c.246C>G (p.Ile82Met) rs1773901440
NM_000165.5(GJA1):c.413G>A (p.Gly138Asp) rs1554201019
NM_000165.5(GJA1):c.416T>A (p.Ile139Asn) rs2114283459
NM_000165.5(GJA1):c.436_441del (p.Lys146_Met147del) rs2114283487
NM_000165.5(GJA1):c.461C>A (p.Thr154Asn)
NM_000165.5(GJA1):c.577C>G (p.Pro193Ala) rs1773907180
NM_000165.5(GJA1):c.602C>A (p.Ser201Tyr) rs2114283819
NM_000165.5(GJA1):c.690T>G (p.Tyr230Ter)
NM_000400.4(ERCC2):c.1007dup (p.Leu337fs) rs2123286013
NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter)
NM_000400.4(ERCC2):c.1084_1087dup (p.Gln363fs)
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000400.4(ERCC2):c.1377_1378insTT (p.Thr460fs)
NM_000400.4(ERCC2):c.1480-1G>C
NM_000400.4(ERCC2):c.1480-2A>C rs1971989621
NM_000400.4(ERCC2):c.1543+2T>A
NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)
NM_000400.4(ERCC2):c.1636G>A (p.Glu546Lys) rs769146546
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
NM_000400.4(ERCC2):c.184-1_186del
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.1847_1850del (p.Arg616fs)
NM_000400.4(ERCC2):c.1852_1871dup (p.Tyr625fs)
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly) rs121913021
NM_000400.4(ERCC2):c.1984_1985del (p.Gln662fs)
NM_000400.4(ERCC2):c.1987T>C (p.Cys663Arg)
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs) rs1971844960
NM_000400.4(ERCC2):c.2018_2019del (p.Asp673fs)
NM_000400.4(ERCC2):c.2047-13_2048del rs1327017125
NM_000400.4(ERCC2):c.2125A>C (p.Thr709Pro)
NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs)
NM_000400.4(ERCC2):c.2190+1G>C
NM_000400.4(ERCC2):c.419_423del (p.Ser140fs)
NM_000400.4(ERCC2):c.566G>A (p.Trp189Ter)
NM_000400.4(ERCC2):c.570C>A (p.Cys190Ter)
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.849dup (p.Glu284fs)
NM_000400.4(ERCC2):c.852del (p.Glu284fs)
NM_000526.5(KRT14):c.355A>G (p.Met119Val) rs61263401
NM_000526.5(KRT14):c.356T>G (p.Met119Arg) rs28928893
NM_000526.5(KRT14):c.372C>A (p.Asp124Glu) rs752374133
NM_001005337.3(PKP1):c.203-1G>C rs2102154917
NM_001005337.3(PKP1):c.841C>T (p.Gln281Ter) rs1553275192
NM_001006657.2(WDR35):c.1195-2A>T
NM_001082486.2(ACD):c.152del (p.Thr51fs)
NM_001085458.2(CTNND1):c.1030C>T (p.Arg344Ter) rs2062049610
NM_001085458.2(CTNND1):c.1687C>T (p.Gln563Ter) rs2062434410
NM_001085458.2(CTNND1):c.2233G>T (p.Glu745Ter) rs2137392998
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001085458.2(CTNND1):c.506C>G (p.Ser169Ter)
NM_001099274.3(TINF2):c.1292del (p.Pro431fs) rs770529422
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) rs1060499576
NM_001099274.3(TINF2):c.848C>T (p.Pro283Leu)
NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala) rs199422314
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) rs199422316
NM_001099274.3(TINF2):c.865C>G (p.Pro289Ala)
NM_001099274.3(TINF2):c.869T>C (p.Phe290Ser)
NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val) rs137853327
NM_001099857.5(IKBKG):c.262GAG[1] (p.Glu89del) rs386134238
NM_001099857.5(IKBKG):c.363_367del (p.Leu122fs)
NM_001099857.5(IKBKG):c.470A>C (p.Gln157Pro) rs386134240
NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn) rs179363867
NM_001102564.3(IFT43):c.164T>A (p.Leu55Ter)
NM_001102564.3(IFT43):c.175C>T (p.Arg59Ter)
NM_001102564.3(IFT43):c.20T>A (p.Leu7Ter)
NM_001102564.3(IFT43):c.296-5686_296-5685del
NM_001102564.3(IFT43):c.368+1G>A
NM_001102564.3(IFT43):c.477del (p.Val160fs)
NM_001102564.3(IFT43):c.55del (p.Arg19fs)
NM_001110219.3(GJB6):c.148G>C (p.Asp50His) rs1869351345
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001127.4(AP1B1):c.2T>C (p.Met1Thr) rs2148022135
NM_001134225.2(INPP4A):c.36C>T (p.Ala12=) rs1306444586
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp) rs587777003
NM_001142730.3(KCTD1):c.2056G>C (p.Asp686His)
NM_001143992.2(WRAP53):c.1257del (p.Phe419fs)
NM_001143992.2(WRAP53):c.438G>A (p.Trp146Ter)
NM_001143992.2(WRAP53):c.509del (p.Asn170fs)
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met) rs587777182
NM_001283009.2(RTEL1):c.1038-2A>G
NM_001283009.2(RTEL1):c.1081del (p.Thr361fs)
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.1191+1G>A rs2090461817
NM_001283009.2(RTEL1):c.1191+1G>C rs2090461817
NM_001283009.2(RTEL1):c.1192-2A>G rs2145411185
NM_001283009.2(RTEL1):c.1228_1266+39del rs2090573767
NM_001283009.2(RTEL1):c.1236_1266+47del rs1568703403
NM_001283009.2(RTEL1):c.1249dup (p.Ala417fs)
NM_001283009.2(RTEL1):c.1255del (p.Gln419fs)
NM_001283009.2(RTEL1):c.1264A>T (p.Lys422Ter)
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)
NM_001283009.2(RTEL1):c.1348+1G>T rs2145412626
NM_001283009.2(RTEL1):c.1458del (p.Ser487fs) rs2090629495
NM_001283009.2(RTEL1):c.1482-1G>A rs863225129
NM_001283009.2(RTEL1):c.1595+1G>A rs2145421181
NM_001283009.2(RTEL1):c.1595_1595+8del
NM_001283009.2(RTEL1):c.1596-1G>A rs1555811386
NM_001283009.2(RTEL1):c.1596-1_1596delinsAA rs1601163764
NM_001283009.2(RTEL1):c.1637-24_1637del
NM_001283009.2(RTEL1):c.1653_1666delinsTGA (p.Val552fs)
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)
NM_001283009.2(RTEL1):c.1921G>A (p.Val641Met)
NM_001283009.2(RTEL1):c.1963dup (p.Arg655fs) rs1555811742
NM_001283009.2(RTEL1):c.1993G>A (p.Glu665Lys)
NM_001283009.2(RTEL1):c.2021dup (p.Gln675fs) rs1263776141
NM_001283009.2(RTEL1):c.2026-1G>T
NM_001283009.2(RTEL1):c.2026-2A>G
NM_001283009.2(RTEL1):c.2057dup (p.Ala687fs)
NM_001283009.2(RTEL1):c.2141+1G>T
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2142-1G>C
NM_001283009.2(RTEL1):c.2142-1G>T
NM_001283009.2(RTEL1):c.2180G>A (p.Trp727Ter)
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter) rs2145430878
NM_001283009.2(RTEL1):c.2239_2251del (p.Gln747fs)
NM_001283009.2(RTEL1):c.2248del (p.Arg750fs)
NM_001283009.2(RTEL1):c.2265+1G>T rs2145431062
NM_001283009.2(RTEL1):c.2265+2T>A rs1555811966
NM_001283009.2(RTEL1):c.2266-2A>G
NM_001283009.2(RTEL1):c.2284dup (p.Arg762fs)
NM_001283009.2(RTEL1):c.2364dup (p.Ala789fs)
NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter)
NM_001283009.2(RTEL1):c.2413+1G>A
NM_001283009.2(RTEL1):c.2413+1G>C rs776744306
NM_001283009.2(RTEL1):c.2413+1G>T
NM_001283009.2(RTEL1):c.2414-2A>G rs1555812178
NM_001283009.2(RTEL1):c.2527C>T (p.Gln843Ter)
NM_001283009.2(RTEL1):c.2532_2533del (p.Ala845fs)
NM_001283009.2(RTEL1):c.2533del (p.Ala845fs) rs1555812228
NM_001283009.2(RTEL1):c.2557-1G>A
NM_001283009.2(RTEL1):c.2557-2A>G
NM_001283009.2(RTEL1):c.2587_2590del (p.Ser863fs) rs752833281
NM_001283009.2(RTEL1):c.2608G>T (p.Glu870Ter)
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs) rs1555812480
NM_001283009.2(RTEL1):c.2653-1G>A
NM_001283009.2(RTEL1):c.2653-2A>C rs1555812834
NM_001283009.2(RTEL1):c.2653-3_2653-1del
NM_001283009.2(RTEL1):c.2674C>T (p.Gln892Ter)
NM_001283009.2(RTEL1):c.2680del (p.Asp894fs)
NM_001283009.2(RTEL1):c.2725C>T (p.Gln909Ter) rs866637461
NM_001283009.2(RTEL1):c.2733del (p.Phe912fs)
NM_001283009.2(RTEL1):c.2749del (p.Gln917fs)
NM_001283009.2(RTEL1):c.276del (p.Ala93fs)
NM_001283009.2(RTEL1):c.2782_2992+170del rs2090789401
NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter)
NM_001283009.2(RTEL1):c.2807_2808delinsA (p.Gly936fs)
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.2817_2821dup (p.Glu941fs)
NM_001283009.2(RTEL1):c.2821G>T (p.Glu941Ter) rs906116592
NM_001283009.2(RTEL1):c.2851+1G>A rs1421904176
NM_001283009.2(RTEL1):c.2851+1G>T rs1421904176
NM_001283009.2(RTEL1):c.2852-1G>A
NM_001283009.2(RTEL1):c.2852-1G>C rs2145448526
NM_001283009.2(RTEL1):c.2852-2A>C
NM_001283009.2(RTEL1):c.2858del (p.Tyr953fs) rs1555813123
NM_001283009.2(RTEL1):c.2859C>A (p.Tyr953Ter)
NM_001283009.2(RTEL1):c.2881A>T (p.Lys961Ter) rs1555813144
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs) rs1285014916
NM_001283009.2(RTEL1):c.2992+1G>A rs1370553261
NM_001283009.2(RTEL1):c.2992+1G>C
NM_001283009.2(RTEL1):c.2992+2T>A
NM_001283009.2(RTEL1):c.2992+492_3068del
NM_001283009.2(RTEL1):c.301+1G>A rs2146149228
NM_001283009.2(RTEL1):c.301+1G>C
NM_001283009.2(RTEL1):c.302-1G>C
NM_001283009.2(RTEL1):c.302-2A>G
NM_001283009.2(RTEL1):c.302-8_303del rs2090026700
NM_001283009.2(RTEL1):c.3104dup (p.Thr1036fs) rs1555814044
NM_001283009.2(RTEL1):c.3109+1G>T
NM_001283009.2(RTEL1):c.3109+2T>C
NM_001283009.2(RTEL1):c.3109+2T>G
NM_001283009.2(RTEL1):c.310_311dup (p.Asp105fs)
NM_001283009.2(RTEL1):c.3110-1G>A
NM_001283009.2(RTEL1):c.3110-2A>C rs377461417
NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter) rs1415449695
NM_001283009.2(RTEL1):c.3130del (p.Gln1044fs)
NM_001283009.2(RTEL1):c.3138del (p.Ser1047fs) rs1555814207
NM_001283009.2(RTEL1):c.3169C>T (p.Gln1057Ter) rs2090929102
NM_001283009.2(RTEL1):c.3259A>T (p.Lys1087Ter)
NM_001283009.2(RTEL1):c.3265GAC[2] (p.Asp1091del) rs1568724567
NM_001283009.2(RTEL1):c.3334del (p.Leu1112fs) rs1555814334
NM_001283009.2(RTEL1):c.3343+1G>C rs2145476311
NM_001283009.2(RTEL1):c.3343+1G>T rs2145476311
NM_001283009.2(RTEL1):c.3344-2A>G rs980695424
NM_001283009.2(RTEL1):c.3406_3409dup (p.Gly1137fs)
NM_001283009.2(RTEL1):c.3499+1G>A
NM_001283009.2(RTEL1):c.3499+2T>C
NM_001283009.2(RTEL1):c.3500-1G>A rs1205986855
NM_001283009.2(RTEL1):c.3559C>T (p.Gln1187Ter) rs776525427
NM_001283009.2(RTEL1):c.3559_3562del (p.Gln1187fs)
NM_001283009.2(RTEL1):c.3578del (p.Val1193fs) rs2145479688
NM_001283009.2(RTEL1):c.3650G>A (p.Trp1217Ter)
NM_001283009.2(RTEL1):c.3651G>A (p.Trp1217Ter)
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.3787del (p.Gln1263fs) rs2145480981
NM_001283009.2(RTEL1):c.395+1G>T
NM_001283009.2(RTEL1):c.395+2T>G
NM_001283009.2(RTEL1):c.396-2A>G
NM_001283009.2(RTEL1):c.396-59del
NM_001283009.2(RTEL1):c.396-74A>C rs1555899773
NM_001283009.2(RTEL1):c.477+1G>A
NM_001283009.2(RTEL1):c.478-2A>G
NM_001283009.2(RTEL1):c.49C>T (p.Pro17Ser) rs1555899096
NM_001283009.2(RTEL1):c.525C>A (p.Tyr175Ter) rs1161373315
NM_001283009.2(RTEL1):c.614+1G>C
NM_001283009.2(RTEL1):c.619dup (p.Cys207fs)
NM_001283009.2(RTEL1):c.630C>A (p.Tyr210Ter) rs1555901000
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.820_827del (p.Ser274fs)
NM_001283009.2(RTEL1):c.821C>G (p.Ser274Ter)
NM_001283009.2(RTEL1):c.897del (p.Phe299fs) rs1555901832
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001283009.2(RTEL1):c.919+1G>T
NM_001283009.2(RTEL1):c.919+2T>C
NM_001283009.2(RTEL1):c.984del (p.Ile329fs) rs2146211234
NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala) rs1114167422
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.114C>G (p.Ile38Met)
NM_001363.5(DKC1):c.1195G>C (p.Asp399His) rs2071871731
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) rs121912289
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn) rs1557265435
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr) rs2071733846
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr) rs1569558474
NM_001363.5(DKC1):c.191T>G (p.Val64Gly) rs2071739379
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) rs121912297
NM_001363.5(DKC1):c.204C>G (p.His68Gln) rs199422245
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)
NM_001399.4(EDA):c.(?_397)-340_(496_?)dup
NM_001399.5(EDA):c.1012A>G (p.Thr338Ala)
NM_001399.5(EDA):c.1036T>C (p.Cys346Arg)
NM_001399.5(EDA):c.1045G>T (p.Ala349Ser) rs132630317
NM_001399.5(EDA):c.1048G>T (p.Gly350Cys) rs2147519167
NM_001399.5(EDA):c.1066G>A (p.Ala356Thr)
NM_001399.5(EDA):c.1067C>T (p.Ala356Val) rs876657639
NM_001399.5(EDA):c.1093G>A (p.Val365Met) rs2147519270
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys) rs2020255486
NM_001399.5(EDA):c.1142G>A (p.Gly381Glu) rs1602625000
NM_001399.5(EDA):c.1144G>A (p.Ala382Thr) rs749830948
NM_001399.5(EDA):c.1152G>T (p.Arg384Ser) rs2020256386
NM_001399.5(EDA):c.1174T>C (p.Ter392Gln) rs2147519482
NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr) rs2020256932
NM_001399.5(EDA):c.130del (p.Leu44fs)
NM_001399.5(EDA):c.133G>C (p.Gly45Arg)
NM_001399.5(EDA):c.146T>C (p.Leu49Pro)
NM_001399.5(EDA):c.161A>T (p.His54Leu) rs1569272194
NM_001399.5(EDA):c.163C>G (p.Leu55Val) rs1602221926
NM_001399.5(EDA):c.164T>A (p.Leu55Gln) rs397516657
NM_001399.5(EDA):c.170C>G (p.Thr57Arg)
NM_001399.5(EDA):c.178T>C (p.Cys60Arg)
NM_001399.5(EDA):c.181T>A (p.Tyr61Asn) rs132630308
NM_001399.5(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001399.5(EDA):c.191del (p.Leu64fs)
NM_001399.5(EDA):c.254dup (p.Thr86fs)
NM_001399.5(EDA):c.434_438del (p.Pro145fs)
NM_001399.5(EDA):c.473A>G (p.Lys158Arg) rs982209417
NM_001399.5(EDA):c.476G>C (p.Arg159Thr) rs1556039084
NM_001399.5(EDA):c.477A>T (p.Arg159Ser) rs876657640
NM_001399.5(EDA):c.4delinsAT (p.Gly2fs)
NM_001399.5(EDA):c.503-2del rs1602614385
NM_001399.5(EDA):c.526+1del rs1602614410
NM_001399.5(EDA):c.526+5G>A rs397516664
NM_001399.5(EDA):c.526+5G>T rs397516664
NM_001399.5(EDA):c.52_53insTGCGA (p.Arg18fs)
NM_001399.5(EDA):c.565G>A (p.Gly189Arg)
NM_001399.5(EDA):c.607C>T (p.Pro203Ser) rs397516671
NM_001399.5(EDA):c.608C>T (p.Pro203Leu) rs2020138975
NM_001399.5(EDA):c.611G>A (p.Gly204Glu)
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) rs1064793104
NM_001399.5(EDA):c.617C>T (p.Pro206Leu) rs1057520742
NM_001399.5(EDA):c.620G>A (p.Gly207Glu) rs2020139491
NM_001399.5(EDA):c.625C>T (p.Pro209Ser)
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.641T>A (p.Met214Lys) rs1569404950
NM_001399.5(EDA):c.644G>A (p.Gly215Glu)
NM_001399.5(EDA):c.658C>G (p.Pro220Ala)
NM_001399.5(EDA):c.706+1G>A rs886039344
NM_001399.5(EDA):c.706G>A (p.Gly236Ser)
NM_001399.5(EDA):c.764G>A (p.Gly255Asp) rs1064793105
NM_001399.5(EDA):c.769G>A (p.Gly257Arg)
NM_001399.5(EDA):c.794-1G>A rs2147516240
NM_001399.5(EDA):c.798T>C (p.Leu266=) rs2147516257
NM_001399.5(EDA):c.800C>G (p.Ser267Ter) rs2147516267
NM_001399.5(EDA):c.805G>A (p.Gly269Arg)
NM_001399.5(EDA):c.822G>T (p.Trp274Cys) rs397516675
NM_001399.5(EDA):c.826C>G (p.Arg276Gly)
NM_001399.5(EDA):c.836T>G (p.Met279Arg)
NM_001399.5(EDA):c.881A>T (p.Glu294Val) rs397516678
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001399.5(EDA):c.895G>T (p.Gly299Cys)
NM_001399.5(EDA):c.902A>G (p.Tyr301Cys) rs397516681
NM_001399.5(EDA):c.911A>C (p.Tyr304Ser) rs876657642
NM_001399.5(EDA):c.924+8C>A rs370406516
NM_001399.5(EDA):c.928T>G (p.Tyr310Asp)
NM_001399.5(EDA):c.935T>C (p.Ile312Thr) rs1791938725
NM_001399.5(EDA):c.948C>G (p.Asp316Glu)
NM_001399.5(EDA):c.958T>C (p.Tyr320His)
NM_001399.5(EDA):c.958T>G (p.Tyr320Asp) rs1416551006
NM_001399.5(EDA):c.959A>C (p.Tyr320Ser)
NM_001399.5(EDA):c.959A>G (p.Tyr320Cys)
NM_001399.5(EDA):c.986T>G (p.Phe329Cys)
NM_001399.5(EDA):c.995G>A (p.Cys332Tyr) rs1602624745
NM_001605.3(AARS1):c.1993-1G>A
NM_001605.3(AARS1):c.673G>C (p.Glu225Gln)
NM_001793.6(CDH3):c.1918T>G (p.Cys640Gly) rs1597817636
NM_001793.6(CDH3):c.2087del (p.Asp696fs) rs1961688932
NM_001793.6(CDH3):c.830G>A (p.Gly277Asp) rs1597807897
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
NM_001814.6(CTSC):c.1339G>T (p.Glu447Ter)
NM_001814.6(CTSC):c.173-2A>C
NM_001814.6(CTSC):c.189del (p.Lys63_Val64insTer)
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg) rs199474831
NM_001814.6(CTSC):c.360_362dup (p.Thr121dup)
NM_001814.6(CTSC):c.394C>G (p.Arg132Gly)
NM_001814.6(CTSC):c.485+1G>A
NM_001814.6(CTSC):c.486-25_492del
NM_001814.6(CTSC):c.641+1G>A
NM_001814.6(CTSC):c.642-2A>G
NM_001814.6(CTSC):c.745G>T (p.Val249Phe)
NM_001814.6(CTSC):c.755A>T (p.Gln252Leu) rs104894207
NM_001814.6(CTSC):c.757+1G>T
NM_001814.6(CTSC):c.814C>A (p.Arg272Ser)
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_001814.6(CTSC):c.855dup (p.Gln286fs)
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn)
NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter) rs1667208458
NM_001854.4(COL11A1):c.1951C>T (p.Arg651Ter)
NM_001854.4(COL11A1):c.2508dup (p.Leu837fs) rs1663313424
NM_001854.4(COL11A1):c.2654C>T (p.Thr885Met) rs550201657
NM_001854.4(COL11A1):c.2702G>A (p.Gly901Glu)
NM_001854.4(COL11A1):c.298del (p.Ser100fs)
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser) rs764282256
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys) rs763199410
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_002582.4(PARN):c.1005+2T>A
NM_002582.4(PARN):c.1262+2T>C
NM_002582.4(PARN):c.1263-11_1269del rs2151711045
NM_002582.4(PARN):c.1263-1G>A
NM_002582.4(PARN):c.1318+2T>C
NM_002582.4(PARN):c.1319-2_1319del
NM_002582.4(PARN):c.1405+1G>T rs1288345334
NM_002582.4(PARN):c.1481-1G>A
NM_002582.4(PARN):c.1481-2A>G
NM_002582.4(PARN):c.1670+1G>T rs1963445391
NM_002582.4(PARN):c.1671-1G>T
NM_002582.4(PARN):c.177+1G>A
NM_002582.4(PARN):c.178-28T>C
NM_002582.4(PARN):c.328-2A>G
NM_002582.4(PARN):c.555-2A>G rs2151795442
NM_002582.4(PARN):c.620+5G>A rs1971361795
NM_002582.4(PARN):c.758_759del (p.Glu253fs) rs2151787383
NM_002582.4(PARN):c.784-1G>A
NM_002582.4(PARN):c.841-2A>G rs2151767204
NM_002582.4(PARN):c.918+5G>A
NM_002582.4(PARN):c.97+2T>C
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu) rs1595860875
NM_002755.4(MAP2K1):c.147_149dup (p.Leu50_Glu51insLeu)
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.4(MAP2K1):c.200A>G (p.Asp67Gly)
NM_002755.4(MAP2K1):c.265C>A (p.Pro89Thr) rs1265809314
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala) rs1057519732
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys) rs1057519733
NM_002755.4(MAP2K1):c.767T>C (p.Met256Thr)
NM_002855.5(NECTIN1):c.226C>T (p.Gln76Ter)
NM_002855.5(NECTIN1):c.472C>T (p.Arg158Ter) rs2135551778
NM_003722.5(TP63):c.1129+1G>A
NM_003722.5(TP63):c.1646T>A (p.Ile549Asn)
NM_003722.5(TP63):c.1670G>T (p.Gly557Val) rs2108864735
NM_003722.5(TP63):c.1963C>T (p.Arg655Ter)
NM_003722.5(TP63):c.345dup (p.Leu116fs)
NM_003722.5(TP63):c.802G>A (p.Glu268Lys) rs2108801803
NM_003722.5(TP63):c.858dup (p.Leu287fs) rs2108801923
NM_004004.6(GJB2):c.-22-2A>G rs201895089
NM_004004.6(GJB2):c.-23+2T>G
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.122AGG[1] (p.Glu42del) rs1566528901
NM_004004.6(GJB2):c.128T>C (p.Val43Ala)
NM_004004.6(GJB2):c.155_158del (p.Val52fs)
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser) rs2137308512
NM_004004.6(GJB2):c.244A>G (p.Ile82Val) rs1566528711
NM_004004.6(GJB2):c.253T>C (p.Ser85Pro)
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.428G>C (p.Arg143Pro)
NM_004004.6(GJB2):c.486_493dup (p.Arg165fs)
NM_004004.6(GJB2):c.498_499dup (p.Val167fs)
NM_004004.6(GJB2):c.516G>A (p.Trp172Ter) rs1302739538
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs) rs886037624
NM_004004.6(GJB2):c.524C>G (p.Pro175Arg) rs2137307322
NM_004004.6(GJB2):c.535G>C (p.Asp179His) rs28931595
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.98T>C (p.Ile33Thr)
NM_004278.4(PIGL):c.154_161del (p.Asp52fs) rs2142610073
NM_004278.4(PIGL):c.438C>A (p.Phe146Leu) rs773591135
NM_004278.4(PIGL):c.494+1G>A rs2142864883
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala) rs121913348
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1406_1411del (p.Gly469_Thr470del) rs1586140436
NM_004333.6(BRAF):c.1408A>C (p.Thr470Pro) rs1586140512
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) rs397516892
NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln) rs397507474
NM_004333.6(BRAF):c.1448A>C (p.Lys483Thr) rs1586126581
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn) rs727504375
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) rs397516893
NM_004333.6(BRAF):c.1475_1477del (p.Pro492del) rs1800500908
NM_004333.6(BRAF):c.1501G>C (p.Glu501Gln) rs180177038
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val) rs180177039
NM_004333.6(BRAF):c.1592G>T (p.Trp531Leu) rs397507478
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu) rs397507480
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1749T>G (p.Phe583Leu) rs397507482
NM_004333.6(BRAF):c.1750C>T (p.Leu584Phe) rs1586015221
NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) rs121913337
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.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) rs121913378
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.2134G>A (p.Ala712Thr) rs1481562268
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904
NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu) rs1585930903
NM_004333.6(BRAF):c.644C>T (p.Ser215Phe) rs1586237312
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys) rs397507469
NM_004333.6(BRAF):c.779G>A (p.Arg260His) rs1586213318
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004333.6(BRAF):c.794G>C (p.Gly265Ala)
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn) rs1960893142
NM_004360.5(CDH1):c.1320G>T (p.Lys440Asn) rs1555515925
NM_004360.5(CDH1):c.1371_1373del (p.Asn458del) rs2152134773
NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter) rs765929630
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
NM_004415.4(DSP):c.1045-1G>C
NM_004415.4(DSP):c.1138C>T (p.Gln380Ter)
NM_004415.4(DSP):c.1141-1G>A rs2113673067
NM_004415.4(DSP):c.1267-2A>G rs1554106830
NM_004415.4(DSP):c.1352G>A (p.Arg451His) rs786204294
NM_004415.4(DSP):c.1420-1G>A
NM_004415.4(DSP):c.1420-1G>T rs1060500609
NM_004415.4(DSP):c.1420-2A>G
NM_004415.4(DSP):c.1574+1G>A rs1758971797
NM_004415.4(DSP):c.1574+1G>C rs1758971797
NM_004415.4(DSP):c.170+1G>A rs1309931610
NM_004415.4(DSP):c.170+1dup
NM_004415.4(DSP):c.1701+2T>A
NM_004415.4(DSP):c.1701+2T>C
NM_004415.4(DSP):c.1702-1G>T
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu) rs606231294
NM_004415.4(DSP):c.1853A>C (p.His618Pro) rs1554107096
NM_004415.4(DSP):c.1903+1G>T
NM_004415.4(DSP):c.1904-2A>G rs2113679702
NM_004415.4(DSP):c.1913C>T (p.Thr638Ile)
NM_004415.4(DSP):c.1978_1979del (p.Glu660fs)
NM_004415.4(DSP):c.202C>T (p.Gln68Ter)
NM_004415.4(DSP):c.2130+1G>A rs727505115
NM_004415.4(DSP):c.2131-3_2131del
NM_004415.4(DSP):c.2241del (p.Phe747fs)
NM_004415.4(DSP):c.2290_2291dup (p.Leu764fs)
NM_004415.4(DSP):c.2297+1G>A rs1057523629
NM_004415.4(DSP):c.2297+2T>C rs796218194
NM_004415.4(DSP):c.2298-1G>C rs1417627909
NM_004415.4(DSP):c.2298-2A>C rs1759176299
NM_004415.4(DSP):c.2359del (p.Tyr787fs)
NM_004415.4(DSP):c.2436+1G>A rs2113684305
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.2611_2614del (p.Asp871fs) rs1265117085
NM_004415.4(DSP):c.273+1G>A rs794728106
NM_004415.4(DSP):c.2793+1G>T rs1554107741
NM_004415.4(DSP):c.2793+1_2793+5delinsAACAAAAAG
NM_004415.4(DSP):c.2794-1G>A rs1759258675
NM_004415.4(DSP):c.2877+1G>A rs2113687794
NM_004415.4(DSP):c.2877+2T>C rs2113687807
NM_004415.4(DSP):c.3012del (p.Ile1004fs)
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) rs1554108050
NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter) rs148894066
NM_004415.4(DSP):c.3959_3962del (p.Ile1320fs)
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.422+1G>A
NM_004415.4(DSP):c.422+2T>G rs2113657846
NM_004415.4(DSP):c.4228_4229del (p.Lys1410fs)
NM_004415.4(DSP):c.423-1G>T rs1304410089
NM_004415.4(DSP):c.423-2A>G rs2113659544
NM_004415.4(DSP):c.4234del (p.Arg1411_Leu1412insTer)
NM_004415.4(DSP):c.4297C>T (p.Gln1433Ter) rs1554108283
NM_004415.4(DSP):c.4384_4387del (p.Glu1461_Ser1462insTer) rs1759396933
NM_004415.4(DSP):c.4407_4423del (p.Asp1470fs)
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.4954del (p.Glu1652fs) rs1581818649
NM_004415.4(DSP):c.4954dup (p.Glu1652fs)
NM_004415.4(DSP):c.5024_5027dup (p.Lys1676fs)
NM_004415.4(DSP):c.526_527del (p.Ser176fs)
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
NM_004415.4(DSP):c.5428del (p.Gln1810fs) rs2113697846
NM_004415.4(DSP):c.5665G>T (p.Glu1889Ter)
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5792_5793insGAGTTAGATA (p.Glu1931_Arg1932insSerTer)
NM_004415.4(DSP):c.597+1G>A rs2113660108
NM_004415.4(DSP):c.597+2T>C
NM_004415.4(DSP):c.5987del (p.Lys1996fs) rs1759510200
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) rs777573018
NM_004415.4(DSP):c.6502dup (p.Ser2168fs)
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6515_6516del (p.Phe2172fs)
NM_004415.4(DSP):c.6537_6538del (p.Lys2180fs)
NM_004415.4(DSP):c.6808C>T (p.Gln2270Ter)
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) rs794728130
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.6983_6992del (p.Lys2328fs)
NM_004415.4(DSP):c.7097G>A (p.Arg2366His) rs387906618
NM_004415.4(DSP):c.7111C>T (p.Gln2371Ter)
NM_004415.4(DSP):c.7177_7178del (p.Lys2393fs)
NM_004415.4(DSP):c.7214_7217del (p.Leu2405fs)
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter) rs2113701867
NM_004415.4(DSP):c.7248del (p.Phe2416fs) rs730880024
NM_004415.4(DSP):c.7438C>T (p.Gln2480Ter)
NM_004415.4(DSP):c.7439_7476dup (p.Phe2493delinsArgArgProThrArgArgAlaTer)
NM_004415.4(DSP):c.777+2T>C
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs) rs763560697
NM_004415.4(DSP):c.778-2A>G rs113726158
NM_004415.4(DSP):c.7787_7793del (p.Ile2596fs)
NM_004415.4(DSP):c.7869del (p.Phe2623fs)
NM_004415.4(DSP):c.7899dup (p.Thr2634fs) rs1131691561
NM_004415.4(DSP):c.7968_7972del (p.Cys2656fs)
NM_004415.4(DSP):c.8148dup (p.Trp2717fs)
NM_004415.4(DSP):c.818dup (p.Asn274fs) rs1758828554
NM_004415.4(DSP):c.8192_8199del (p.Tyr2731fs)
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.940-2del rs2113670901
NM_004415.4(DSP):c.955_957del (p.Leu319del)
NM_004415.4(DSP):c.967G>C (p.Glu323Gln) rs1057522287
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.175_176delinsTT (p.Ala59Leu)
NM_004985.5(KRAS):c.179G>T (p.Gly60Val) rs727503108
NM_004985.5(KRAS):c.211T>G (p.Tyr71Asp) rs387907205
NM_005220.3(DLX3):c.574del (p.Glu192fs) rs1057518764
NM_006978.3(RNF113A):c.890_891del (p.Tyr297fs)
NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys) rs1553253990
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe) rs1554596418
NM_014112.5(TRPS1):c.1464_1474del (p.Ser489fs) rs1817986949
NM_014112.5(TRPS1):c.1817C>T (p.Ser606Phe) rs1817974591
NM_014112.5(TRPS1):c.1919_2096+2929del
NM_014112.5(TRPS1):c.2096+1G>A
NM_014112.5(TRPS1):c.2097-2A>C
NM_014112.5(TRPS1):c.2700+1G>C
NM_014112.5(TRPS1):c.2719del (p.Val907fs)
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser) rs1554617580
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro) rs1554617573
NM_014112.5(TRPS1):c.2798G>A (p.Cys933Tyr) rs1812971156
NM_014112.5(TRPS1):c.2890A>G (p.Lys964Glu) rs2129751692
NM_014112.5(TRPS1):c.3062del (p.Gly1021fs) rs1812876043
NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr) rs1586249260
NM_014112.5(TRPS1):c.3737A>T (p.His1246Leu)
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_014112.5(TRPS1):c.782_785dup (p.Leu263fs)
NM_014112.5(TRPS1):c.94C>T (p.Gln32Ter) rs1818358114
NM_014112.5(TRPS1):c.967-1G>T rs2130494791
NM_015450.3(POT1):c.1507T>G (p.Cys503Gly)
NM_015450.3(POT1):c.1651G>A (p.Gly551Arg)
NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs)
NM_015559.3(SETBP1):c.1955_1956dup (p.Gly653fs)
NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr) rs2071362354
NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr) rs2145105580
NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg)
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015559.3(SETBP1):c.2982C>G (p.Tyr994Ter) rs2071377438
NM_017612.5(ZCCHC8):c.337G>A (p.Glu113Lys)
NM_017612.5(ZCCHC8):c.508G>A (p.Gly170Arg) rs1957578325
NM_020529.3(NFKBIA):c.106T>G (p.Ser36Ala)
NM_020639.3(RIPK4):c.722G>A (p.Arg241His) rs891831110
NM_020779.4(WDR35):c.1255+1G>C rs371669862
NM_020779.4(WDR35):c.1362del (p.Asn455fs) rs772534528
NM_020779.4(WDR35):c.1525-2A>T
NM_020779.4(WDR35):c.1744C>T (p.Arg582Ter) rs778613849
NM_020779.4(WDR35):c.1846-30_1848del rs1553317813
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.2142_2152del (p.Tyr714_Lys718delinsTer)
NM_020779.4(WDR35):c.2320del (p.Gln774fs)
NM_020779.4(WDR35):c.24+2T>C
NM_020779.4(WDR35):c.2509dup (p.Leu837fs)
NM_020779.4(WDR35):c.2844del (p.Gly950fs)
NM_020779.4(WDR35):c.2976del (p.Leu993fs) rs1490771127
NM_020779.4(WDR35):c.308-1G>T
NM_020779.4(WDR35):c.324_325dup (p.Met109fs) rs745486923
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg) rs397515536
NM_020779.4(WDR35):c.570+2T>G
NM_020779.4(WDR35):c.906del (p.Gly303fs)
NM_022336.4(EDAR):c.1087_1088insGA (p.Thr363fs)
NM_022336.4(EDAR):c.1135G>A (p.Glu379Lys)
NM_022336.4(EDAR):c.1181G>A (p.Gly394Asp)
NM_022336.4(EDAR):c.1205G>A (p.Ser402Asn)
NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg)
NM_022336.4(EDAR):c.1213G>A (p.Gly405Ser)
NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg) rs1696610650
NM_022336.4(EDAR):c.1258C>T (p.Arg420Trp)
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022336.4(EDAR):c.1271T>G (p.Val424Gly)
NM_022336.4(EDAR):c.1273G>T (p.Glu425Ter)
NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter) rs886041005
NM_022336.4(EDAR):c.1293A>G (p.Ile431Met) rs1696608635
NM_022336.4(EDAR):c.287T>C (p.Phe96Ser) rs1697319420
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) rs557166582
NM_022336.4(EDAR):c.442T>C (p.Cys148Arg) rs1181378221
NM_022336.4(EDAR):c.545del (p.Gly182fs)
NM_022336.4(EDAR):c.719_722del (p.Lys240fs) rs797044436
NM_022336.4(EDAR):c.985A>T (p.Ile329Phe) rs1553444917
NM_022336.4(EDAR):c.986T>G (p.Ile329Ser) rs1696805635
NM_024589.3(ROGDI):c.118-2A>C
NM_024589.3(ROGDI):c.118-2A>G rs1060502981
NM_024589.3(ROGDI):c.201-1G>C rs1473111275
NM_024589.3(ROGDI):c.319_336+64del
NM_024589.3(ROGDI):c.329_336+5del rs2082701593
NM_024589.3(ROGDI):c.337-2A>G rs774701696
NM_024589.3(ROGDI):c.432+1dup rs2082694047
NM_024589.3(ROGDI):c.45+9_45+20del rs772340154
NM_024589.3(ROGDI):c.46-2A>G
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs) rs786205124
NM_024589.3(ROGDI):c.532-2A>G
NM_024589.3(ROGDI):c.645+1G>T
NM_024589.3(ROGDI):c.646-2_649del
NM_025099.6(CTC1):c.1077+1G>A
NM_025099.6(CTC1):c.1120G>T (p.Glu374Ter) rs1987674659
NM_025099.6(CTC1):c.1207-1G>C
NM_025099.6(CTC1):c.1617+1G>T rs1201400384
NM_025099.6(CTC1):c.2385+1G>C rs2151508864
NM_025099.6(CTC1):c.3157-2A>C
NM_025099.6(CTC1):c.3221+1G>A rs766644829
NM_025099.6(CTC1):c.3221+2T>C
NM_025099.6(CTC1):c.33+2T>G rs2151564155
NM_025099.6(CTC1):c.3387+1G>A rs1242486415
NM_025099.6(CTC1):c.3387+1G>C
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter) rs199473682
NM_025099.6(CTC1):c.436-1G>A
NM_025132.4(WDR19):c.1134+1G>A
NM_025132.4(WDR19):c.1135-2A>G
NM_025132.4(WDR19):c.1148_1149del (p.Thr383fs)
NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) rs886039814
NM_025132.4(WDR19):c.1484G>A (p.Gly495Asp)
NM_025132.4(WDR19):c.1582_1585dup (p.Leu529Ter)
NM_025132.4(WDR19):c.186G>A (p.Trp62Ter)
NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)
NM_025132.4(WDR19):c.2364-2del
NM_025132.4(WDR19):c.2388_2392dup (p.Tyr798fs)
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2491del (p.Val831fs)
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.2716del (p.Glu906fs)
NM_025132.4(WDR19):c.2730-1G>A
NM_025132.4(WDR19):c.2845C>T (p.Gln949Ter)
NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter)
NM_025132.4(WDR19):c.291-2A>G
NM_025132.4(WDR19):c.3068_3069del (p.Tyr1023fs)
NM_025132.4(WDR19):c.3084del (p.Lys1028fs)
NM_025132.4(WDR19):c.3184-2A>C rs1020915921
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3436G>T (p.Glu1146Ter)
NM_025132.4(WDR19):c.355G>T (p.Gly119Ter)
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
NM_025132.4(WDR19):c.3723del (p.Asp1242fs)
NM_025132.4(WDR19):c.3798dup (p.Cys1267fs)
NM_025132.4(WDR19):c.406+1G>T
NM_025132.4(WDR19):c.523-1G>C
NM_025132.4(WDR19):c.717-1G>A
NM_025132.4(WDR19):c.961+2T>C rs1728876351
NM_025132.4(WDR19):c.98+1G>A
NM_025216.3(WNT10A):c.-17_13del (p.Met1_His5del) rs746813123
NM_025216.3(WNT10A):c.1036del (p.Cys346fs)
NM_025216.3(WNT10A):c.1066G>A (p.Gly356Ser)
NM_025216.3(WNT10A):c.1070C>T (p.Thr357Ile)
NM_025216.3(WNT10A):c.1079G>C (p.Arg360Pro) rs893127185
NM_025216.3(WNT10A):c.113+1G>A
NM_025216.3(WNT10A):c.1A>T (p.Met1Leu) rs1221516695
NM_025216.3(WNT10A):c.274G>A (p.Ala92Thr)
NM_025216.3(WNT10A):c.318C>G (p.Asn106Lys) rs1283426045
NM_025216.3(WNT10A):c.322T>C (p.Ser108Pro) rs1249944381
NM_025216.3(WNT10A):c.353A>G (p.Tyr118Cys)
NM_025216.3(WNT10A):c.376G>A (p.Gly126Ser)
NM_025216.3(WNT10A):c.3G>A (p.Met1Ile)
NM_025216.3(WNT10A):c.433G>A (p.Val145Met) rs543063101
NM_025216.3(WNT10A):c.521T>C (p.Leu174Pro)
NM_025216.3(WNT10A):c.616C>T (p.Gln206Ter) rs1060499588
NM_025216.3(WNT10A):c.662G>T (p.Gly221Val)
NM_025216.3(WNT10A):c.694del (p.Arg232fs) rs1575233692
NM_025216.3(WNT10A):c.812G>A (p.Cys271Tyr)
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter) rs773036759
NM_025216.3(WNT10A):c.832C>T (p.Gln278Ter) rs2106018205
NM_025216.3(WNT10A):c.889G>A (p.Ala297Thr)
NM_025216.3(WNT10A):c.949del (p.Ala317fs) rs775990266
NM_030662.4(MAP2K2):c.167C>A (p.Ala56Asp)
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del) rs1599307313
NM_030662.4(MAP2K2):c.191T>G (p.Val64Gly) rs1135401787
NM_030662.4(MAP2K2):c.335G>T (p.Arg112Leu) rs2041142587
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
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_030662.4(MAP2K2):c.404G>T (p.Gly135Val)
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030916.3(NECTIN4):c.1516C>T (p.Arg506Trp)
NM_032208.3(ANTXR1):c.1150G>A (p.Gly384Ser) rs869312897
NM_032208.3(ANTXR1):c.1221dup (p.Ala408fs) rs869312895
NM_032208.3(ANTXR1):c.1434+1G>A
NM_032208.3(ANTXR1):c.411A>G (p.Gln137=) rs869312896
NM_032208.3(ANTXR1):c.505C>T (p.Arg169Ter) rs397514700
NM_032208.3(ANTXR1):c.568del (p.Arg190fs)
NM_032957.4(RTEL1):c.[1346T>C];[3028C>T]
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_052989.3(IFT122):c.1044C>A (p.Tyr348Ter)
NM_052989.3(IFT122):c.1148-2A>G
NM_052989.3(IFT122):c.1247C>A (p.Ser416Ter)
NM_052989.3(IFT122):c.1279A>T (p.Lys427Ter)
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro) rs2108328020
NM_052989.3(IFT122):c.1715G>T (p.Gly572Val) rs786205566
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg) rs2074912574
NM_052989.3(IFT122):c.1783_1784del (p.Val595fs)
NM_052989.3(IFT122):c.1800del (p.Lys601fs)
NM_052989.3(IFT122):c.193+2T>G
NM_052989.3(IFT122):c.22A>T (p.Arg8Ter)
NM_052989.3(IFT122):c.2313C>A (p.Tyr771Ter)
NM_052989.3(IFT122):c.240G>A (p.Trp80Ter)
NM_052989.3(IFT122):c.25_26del (p.Arg8_Asp9insTer)
NM_052989.3(IFT122):c.2650+1G>A
NM_052989.3(IFT122):c.2708_2711del (p.Asn903fs)
NM_052989.3(IFT122):c.272+1G>C
NM_052989.3(IFT122):c.2791+1G>A
NM_052989.3(IFT122):c.3098del (p.Lys1033fs)
NM_052989.3(IFT122):c.3265+1G>A
NM_052989.3(IFT122):c.3391+1G>A
NM_052989.3(IFT122):c.3429dup (p.Ile1144fs)
NM_052989.3(IFT122):c.349+1G>A rs1559869525
NM_052989.3(IFT122):c.356G>A (p.Trp119Ter)
NM_052989.3(IFT122):c.3616_3636+5del
NM_052989.3(IFT122):c.416+2T>G rs2108101855
NM_052989.3(IFT122):c.515_516insA (p.Ser175fs)
NM_052989.3(IFT122):c.592_595del (p.Glu198fs)
NM_052989.3(IFT122):c.741del (p.Glu248fs)
NM_052989.3(IFT122):c.896G>A (p.Gly299Asp) rs2077955754
NM_052989.3(IFT122):c.916_917del (p.Leu306fs)
NM_138701.4(MPLKIP):c.135C>G (p.Tyr45Ter)
NM_138701.4(MPLKIP):c.198_199del (p.Pro67fs)
NM_138701.4(MPLKIP):c.397delinsGGA (p.Ser133fs)
NM_144991.3(TSPEAR):c.1178del (p.Pro393fs)
NM_144991.3(TSPEAR):c.1594_1595insA (p.Phe532fs)
NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs) rs1569151872
NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala) rs2103042605
NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn) rs879255629
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) rs74315309
NM_145861.4(EDARADD):c.61+1G>C
NM_147127.5(EVC2):c.1005+1G>A
NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter)
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1145+2T>G
NM_147127.5(EVC2):c.1145+2del
NM_147127.5(EVC2):c.1146-2A>T
NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs) rs1553840713
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter)
NM_147127.5(EVC2):c.1245del (p.Ser416fs)
NM_147127.5(EVC2):c.1255dup (p.His419fs)
NM_147127.5(EVC2):c.1261_1262insTATACACATCTGTGATC (p.Ser421fs)
NM_147127.5(EVC2):c.1292_1296del (p.Val431fs)
NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter)
NM_147127.5(EVC2):c.1313del (p.Leu438fs)
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1463del (p.Gly488fs)
NM_147127.5(EVC2):c.1470+1G>C rs1577194652
NM_147127.5(EVC2):c.1470+2T>C
NM_147127.5(EVC2):c.1471-1G>C rs1553837446
NM_147127.5(EVC2):c.1471-2168_1835del
NM_147127.5(EVC2):c.1511del (p.Gly504fs)
NM_147127.5(EVC2):c.1522G>T (p.Glu508Ter)
NM_147127.5(EVC2):c.1551_1552insTTTCT (p.Gln518fs)
NM_147127.5(EVC2):c.1552delinsGAGACAGT (p.Gln518fs)
NM_147127.5(EVC2):c.1595del (p.Phe532fs)
NM_147127.5(EVC2):c.1680_1681del (p.Lys560fs)
NM_147127.5(EVC2):c.1710+1G>A rs2108851279
NM_147127.5(EVC2):c.1710+2T>C rs2108851273
NM_147127.5(EVC2):c.1711-1G>A rs1553836169
NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs)
NM_147127.5(EVC2):c.1872_1873delinsA (p.Gln625fs)
NM_147127.5(EVC2):c.1882G>T (p.Glu628Ter) rs186197620
NM_147127.5(EVC2):c.1887-1G>A rs1490912913
NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter)
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.1997dup (p.Leu667fs)
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter)
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter) rs2108843158
NM_147127.5(EVC2):c.202_211dup (p.Pro71fs) rs1553855074
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
NM_147127.5(EVC2):c.2046+1G>A rs762947212
NM_147127.5(EVC2):c.2046+1G>C rs762947212
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2047-1G>T
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.204_210dup (p.Pro71fs)
NM_147127.5(EVC2):c.2053del (p.Glu685fs)
NM_147127.5(EVC2):c.2122_2125delinsAGA (p.His708fs)
NM_147127.5(EVC2):c.2219delinsTTTCT (p.Thr740fs)
NM_147127.5(EVC2):c.222_228+21del rs1484464278
NM_147127.5(EVC2):c.2239_2243del (p.Ala747fs)
NM_147127.5(EVC2):c.228+2T>G
NM_147127.5(EVC2):c.2320C>T (p.Gln774Ter)
NM_147127.5(EVC2):c.2364del (p.Glu789fs)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2394_2395del (p.Asp799fs)
NM_147127.5(EVC2):c.2409_2419del (p.Gln804fs)
NM_147127.5(EVC2):c.2501+1G>T
NM_147127.5(EVC2):c.2501+2T>G
NM_147127.5(EVC2):c.257_260del (p.Val86fs)
NM_147127.5(EVC2):c.2706+1G>A rs2108833043
NM_147127.5(EVC2):c.2707-1G>A
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2707-2A>G
NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter)
NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter)
NM_147127.5(EVC2):c.2829+2T>C
NM_147127.5(EVC2):c.2829+2T>G
NM_147127.5(EVC2):c.2830-1G>A rs1553818428
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.2842_2848del (p.Leu948fs)
NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter)
NM_147127.5(EVC2):c.2855_2858delinsCACTCA (p.Arg952fs)
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter)
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
NM_147127.5(EVC2):c.2945dup (p.Ser983fs)
NM_147127.5(EVC2):c.2958del (p.Ala987fs)
NM_147127.5(EVC2):c.2974C>T (p.Gln992Ter)
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)
NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter)
NM_147127.5(EVC2):c.3057+1G>A rs1307502841
NM_147127.5(EVC2):c.3058-1G>C
NM_147127.5(EVC2):c.3058-1G>T
NM_147127.5(EVC2):c.3058-2A>G rs760066386
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.3169_3182del (p.Ile1057fs)
NM_147127.5(EVC2):c.316A>T (p.Lys106Ter)
NM_147127.5(EVC2):c.3239del (p.Lys1080fs) rs1291275281
NM_147127.5(EVC2):c.3272+1G>T
NM_147127.5(EVC2):c.3273-2A>C rs2108777040
NM_147127.5(EVC2):c.3273-2del rs768380281
NM_147127.5(EVC2):c.3279_3282del (p.Glu1094fs)
NM_147127.5(EVC2):c.3286C>T (p.Gln1096Ter)
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3361-255_3481del
NM_147127.5(EVC2):c.3411del (p.Thr1138fs)
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3459_3460del (p.Gln1154fs)
NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter)
NM_147127.5(EVC2):c.3558-2A>G
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.35G>A (p.Trp12Ter)
NM_147127.5(EVC2):c.3660-2A>G rs1553811863
NM_147127.5(EVC2):c.380T>A (p.Leu127Ter) rs2151736638
NM_147127.5(EVC2):c.386del (p.Ala129fs)
NM_147127.5(EVC2):c.3G>C (p.Met1Ile)
NM_147127.5(EVC2):c.437_438del (p.Ile146fs)
NM_147127.5(EVC2):c.449del (p.Leu150fs)
NM_147127.5(EVC2):c.450+1G>A rs1447633595
NM_147127.5(EVC2):c.450+1G>C
NM_147127.5(EVC2):c.450+1del rs1553852469
NM_147127.5(EVC2):c.450+2T>G
NM_147127.5(EVC2):c.451-1_452del rs1721107398
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.466del (p.Arg156fs)
NM_147127.5(EVC2):c.469G>T (p.Glu157Ter)
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.520-2A>T
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.558G>A (p.Trp186Ter)
NM_147127.5(EVC2):c.636_637delinsT (p.Thr213fs)
NM_147127.5(EVC2):c.711_717del (p.Asp238fs)
NM_147127.5(EVC2):c.750_751delinsA (p.Gly251fs)
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.775_781del (p.Leu259fs)
NM_147127.5(EVC2):c.816+1G>T rs1355905411
NM_147127.5(EVC2):c.816+2T>A rs1294715119
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.817-1G>T
NM_147127.5(EVC2):c.817-2A>G rs1553849894
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.870+1G>A rs2151724043
NM_147127.5(EVC2):c.870+2T>C
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.916delinsGACGA (p.Phe306fs)
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_147127.5(EVC2):c.961del (p.Val321fs)
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del) rs1445771901
NM_153717.3(EVC):c.-31_15dup (p.Ala6fs)
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1068_1069del (p.Leu357fs)
NM_153717.3(EVC):c.1081_1083delinsA (p.Gln361fs)
NM_153717.3(EVC):c.1084del (p.Glu362fs)
NM_153717.3(EVC):c.1098+1G>A
NM_153717.3(EVC):c.1099-1G>A
NM_153717.3(EVC):c.1099-2A>C
NM_153717.3(EVC):c.1113del (p.Thr372fs) rs2152076090
NM_153717.3(EVC):c.1128_1132del (p.His377fs)
NM_153717.3(EVC):c.1136_1563+515del
NM_153717.3(EVC):c.1148_1152del (p.Glu383fs)
NM_153717.3(EVC):c.1158_1159insACTGTCTCTTATA (p.Leu387fs)
NM_153717.3(EVC):c.1212_1216del (p.Glu405fs)
NM_153717.3(EVC):c.1284_1287del (p.Phe429fs)
NM_153717.3(EVC):c.1290G>A (p.Trp430Ter)
NM_153717.3(EVC):c.1304_1307dup (p.Phe436fs)
NM_153717.3(EVC):c.1316-7A>G
NM_153717.3(EVC):c.134G>A (p.Trp45Ter) rs1553857995
NM_153717.3(EVC):c.1361_1362delinsT (p.His454fs)
NM_153717.3(EVC):c.1363C>T (p.Gln455Ter)
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.13_14insCTCA (p.Gly5fs)
NM_153717.3(EVC):c.1409del (p.Gln470fs)
NM_153717.3(EVC):c.1465-1G>A rs1731156302
NM_153717.3(EVC):c.1465-3_1472del rs1300178432
NM_153717.3(EVC):c.1473dup (p.Glu492Ter) rs1553876813
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.153_174+42del rs1723019796
NM_153717.3(EVC):c.1572del (p.Phe525fs)
NM_153717.3(EVC):c.1620_1621del (p.Gln541fs)
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
NM_153717.3(EVC):c.1662_1663del (p.Cys554_Asp555delinsTer)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1750del (p.Gln584fs) rs1736000365
NM_153717.3(EVC):c.1765del (p.Gln589fs)
NM_153717.3(EVC):c.1776+2T>C
NM_153717.3(EVC):c.1803del (p.Ser602fs)
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_153717.3(EVC):c.1858_1878del (p.Leu620_Leu626del)
NM_153717.3(EVC):c.1880_1881insGA (p.Glu628fs)
NM_153717.3(EVC):c.1886+1G>C rs753679094
NM_153717.3(EVC):c.1886+2T>G rs1713228964
NM_153717.3(EVC):c.1887-2A>T
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1981C>T (p.Gln661Ter)
NM_153717.3(EVC):c.1A>G (p.Met1Val)
NM_153717.3(EVC):c.2026G>T (p.Glu676Ter)
NM_153717.3(EVC):c.2041G>T (p.Glu681Ter)
NM_153717.3(EVC):c.2097+1G>A
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2097+2del rs2152340942
NM_153717.3(EVC):c.2098-1G>C rs773019082
NM_153717.3(EVC):c.2098-2A>G rs1714398710
NM_153717.3(EVC):c.2143_2144del (p.Gln715fs)
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2176dup (p.Leu726fs) rs146475474
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
NM_153717.3(EVC):c.220C>T (p.Gln74Ter)
NM_153717.3(EVC):c.228_234del (p.Ser77fs)
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2436_2437del (p.Lys813fs)
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2449+2T>C
NM_153717.3(EVC):c.2450-1G>A rs1715585498
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter) rs561852174
NM_153717.3(EVC):c.2561+1G>A rs1553894457
NM_153717.3(EVC):c.2562-3_2584del rs1577663625
NM_153717.3(EVC):c.2668del (p.Gln890fs) rs1553895755
NM_153717.3(EVC):c.2677_2688+7del rs2152387946
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2688+2T>G
NM_153717.3(EVC):c.2695G>T (p.Glu899Ter)
NM_153717.3(EVC):c.26_36del (p.Lys9fs)
NM_153717.3(EVC):c.26del (p.Lys9fs)
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.2889dup (p.Leu964fs)
NM_153717.3(EVC):c.29_30insA (p.Ser10fs)
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.2T>C (p.Met1Thr)
NM_153717.3(EVC):c.300+1G>T
NM_153717.3(EVC):c.301-1G>A rs1363547577
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.37_40del (p.Arg13fs)
NM_153717.3(EVC):c.37del (p.Arg13fs)
NM_153717.3(EVC):c.384+1G>T
NM_153717.3(EVC):c.384G>T (p.Arg128=) rs1553865346
NM_153717.3(EVC):c.385-1G>A
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153717.3(EVC):c.39_40del (p.Leu14fs)
NM_153717.3(EVC):c.3_4insTATAAGAGACA (p.Ala2fs)
NM_153717.3(EVC):c.40_41insACTGTCTCTTA (p.Leu14fs)
NM_153717.3(EVC):c.43_44insGTATAAGAGACAG (p.Leu15fs)
NM_153717.3(EVC):c.48_55del (p.Gly17fs)
NM_153717.3(EVC):c.54_61del (p.Asp19fs)
NM_153717.3(EVC):c.56_174+42del
NM_153717.3(EVC):c.585_586insT (p.Asn196Ter)
NM_153717.3(EVC):c.59_60insA (p.Leu21fs)
NM_153717.3(EVC):c.60_61insACTGTCTCTTATA (p.Leu21fs)
NM_153717.3(EVC):c.617+1G>A rs1726841476
NM_153717.3(EVC):c.617+2T>A
NM_153717.3(EVC):c.618-1G>A
NM_153717.3(EVC):c.636T>A (p.Cys212Ter)
NM_153717.3(EVC):c.64_79del (p.Arg22fs)
NM_153717.3(EVC):c.650_651del (p.His217fs)
NM_153717.3(EVC):c.653T>G (p.Leu218Ter)
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.703-1G>A rs1485152854
NM_153717.3(EVC):c.703-1G>C rs1485152854
NM_153717.3(EVC):c.708del (p.Phe236fs)
NM_153717.3(EVC):c.720del (p.Phe240fs) rs1553871764
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.787_788delinsA (p.Ser263fs)
NM_153717.3(EVC):c.801+1G>T
NM_153717.3(EVC):c.801+2T>C
NM_153717.3(EVC):c.801+2T>G rs1553871866
NM_153717.3(EVC):c.801del (p.Asp268fs)
NM_153717.3(EVC):c.802-1G>C rs150814290
NM_153717.3(EVC):c.802-2A>G
NM_153717.3(EVC):c.840_846del (p.Ser281fs)
NM_153717.3(EVC):c.857C>A (p.Ser286Ter)
NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs)
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.90_91insT (p.Ala31fs)
NM_153717.3(EVC):c.910del (p.Arg304fs)
NM_153717.3(EVC):c.939+1G>A rs1553873138
NM_153717.3(EVC):c.939+1G>C rs1553873138
NM_153717.3(EVC):c.940-150T>G rs576076928
NM_153717.3(EVC):c.985_986insATCTT (p.Val329fs)
NM_153717.3(EVC):c.999_1000insAACATTC (p.Cys334fs)
NM_172232.4(ABCA5):c.1632_1633del (p.Arg544fs)
NM_172232.4(ABCA5):c.2569C>T (p.Arg857Cys)
NM_172232.4(ABCA5):c.4315C>T (p.Arg1439Ter)
NM_183374.3(CYP26C1):c.1191+1G>A
NM_194248.3(OTOF):c.1912+1G>C
NM_194248.3(OTOF):c.5714G>A (p.Gly1905Asp)
NM_194248.3(OTOF):c.897+5G>C
NM_198253.2(TERT):c.(?_1574)_(1769_?)del
NM_198253.3(TERT):c.-124C>T rs1242535815
NM_198253.3(TERT):c.1438T>C (p.Ser480Pro) rs917650159
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) rs199422293
NM_198253.3(TERT):c.1573+2T>A
NM_198253.3(TERT):c.1574-1G>A rs1750106866
NM_198253.3(TERT):c.1574-1G>C
NM_198253.3(TERT):c.1769+2T>C
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) rs1194223999
NM_198253.3(TERT):c.1951-2A>C
NM_198253.3(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.3(TERT):c.2053G>A (p.Asp685Asn) rs1579575848
NM_198253.3(TERT):c.2058C>G (p.Ile686Met) rs745590324
NM_198253.3(TERT):c.2105C>G (p.Pro702Arg)
NM_198253.3(TERT):c.2130+1G>A
NM_198253.3(TERT):c.2130+1G>C
NM_198253.3(TERT):c.2130+2T>G
NM_198253.3(TERT):c.2131-2A>G
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.219+1G>A rs199422309
NM_198253.3(TERT):c.219+2T>A
NM_198253.3(TERT):c.2286+1G>A rs1749780301
NM_198253.3(TERT):c.2286+1G>T
NM_198253.3(TERT):c.2329G>A (p.Val777Met) rs1554040129
NM_198253.3(TERT):c.2382+1G>C rs1749089374
NM_198253.3(TERT):c.2382+1G>T
NM_198253.3(TERT):c.2382+235_2453del
NM_198253.3(TERT):c.2591T>C (p.Leu864Pro) rs1561194110
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys) rs372868296
NM_198253.3(TERT):c.2594G>T (p.Arg865Leu)
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2648T>G (p.Phe883Cys)
NM_198253.3(TERT):c.2654+1G>C
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.3(TERT):c.2912G>A (p.Arg971His) rs1748153358
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln) rs765566930
NM_198253.3(TERT):c.293C>A (p.Ala98Asp)
NM_198253.3(TERT):c.2947C>T (p.His983Tyr) rs1554038803
NM_198253.3(TERT):c.2970+1G>A
NM_198253.3(TERT):c.2970+2T>G rs2126584187
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val) rs866575708
NM_198253.3(TERT):c.3032+1G>C
NM_198253.3(TERT):c.3118G>A (p.Ala1040Thr) rs770144114
NM_198253.3(TERT):c.3157+1G>T rs2126562296
NM_198253.3(TERT):c.3158-2A>C
NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser) rs938938578
NM_198253.3(TERT):c.329G>C (p.Gly110Ala) rs1751262771
NM_198253.3(TERT):c.329G>T (p.Gly110Val)
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.359G>C (p.Arg120Pro) rs1554043083
NM_198253.3(TERT):c.421C>G (p.Leu141Val) rs775225240
NM_198253.3(TERT):c.902G>T (p.Arg301Leu) rs1268051204
NR_001566.1(TERC):n.407_408delinsAA rs1553915580
NR_001566.3(TERC):n.113_114delTT
NR_001566.3(TERC):n.301A>T
NR_001566.3(TERC):n.306T>G rs1553915591
NR_001566.3(TERC):n.443C>A rs1553915577
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC rs1554651486
NR_003051.3(RMRP):n.-11_-2dup10 rs1587919129
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA rs1554651425
NR_003051.3(RMRP):n.-13_-2dup rs1554651400
NR_003051.3(RMRP):n.-15_-6dup rs1554651447
NR_003051.3(RMRP):n.-17_-3dup15 rs1823634410
NR_003051.3(RMRP):n.-17_-5dup13 rs1823637491
NR_003051.3(RMRP):n.-18_-17ins14 rs1554651544
NR_003051.3(RMRP):n.-18_-2dup17 rs1587919165
NR_003051.3(RMRP):n.-18_-7dup12 rs1554651466
NR_003051.3(RMRP):n.-18_-8dup11 rs1230629953
NR_003051.3(RMRP):n.-1_1ins16 rs1554651395
NR_003051.3(RMRP):n.-1_1ins21 rs1218494857
NR_003051.3(RMRP):n.-1_1ins22 rs1554651397
NR_003051.3(RMRP):n.-20_-10dup rs1554651486
NR_003051.3(RMRP):n.-20_-12dup rs1554651503
NR_003051.3(RMRP):n.-20_-13dup rs1554651512
NR_003051.3(RMRP):n.-20_-3dup rs1554651418
NR_003051.3(RMRP):n.-20_-7dup14 rs1823639713
NR_003051.3(RMRP):n.-21_-12dup10 rs1554651503
NR_003051.3(RMRP):n.-21_-4dup rs1563907881
NR_003051.3(RMRP):n.-21_-6dup16 rs1554651451
NR_003051.3(RMRP):n.-22_-11dup rs1179735603
NR_003051.3(RMRP):n.-23_-13dup rs1554651513
NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC rs727502776
NR_003051.3(RMRP):n.-24_-3dup22 rs1554651411
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-25_-6dup rs1554651445
NR_003051.3(RMRP):n.-26_-10dup rs1554651491
NR_003051.3(RMRP):n.-27_-6dup22 rs1823638952
NR_003051.3(RMRP):n.-3_-2ins20 rs1554651405
NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG rs1554651451
NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA rs1554651439
NR_003051.3(RMRP):n.-7_-6ins16 rs1554651461
NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA rs1823639598
NR_003051.3(RMRP):n.-7_1dup8 rs752934195
NR_003051.3(RMRP):n.-8_-7ins15 rs1230629953
NR_003051.3(RMRP):n.-8_-7ins17 rs1554651469
NR_003051.3(RMRP):n.-9_1dup rs752934195
NR_003051.3(RMRP):n.1_2ins13 rs1554651368
NR_003051.3(RMRP):n.2_3ins15 rs1554651364
NR_003051.3(RMRP):n.3_4ins10 rs759665242
NR_003051.3(RMRP):r.-25_-7dupTACTACTCTGTGAAGCTGA rs1554651455
NR_003051.4(RMRP):n.-21_-2dup rs1554651411
NR_003051.4(RMRP):n.-23_-14dup rs1554651532
NR_003051.4(RMRP):n.-7_-6insGGGACTACTCTGTGAAGCTG rs1554651471
NR_003051.4(RMRP):n.129G>A rs74810894
NR_003051.4(RMRP):n.184G>T rs1554651153
NR_003051.4(RMRP):n.213C>G rs192060920
NR_003051.4(RMRP):n.220A>G rs936059863
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG rs1383432106
NR_003051.4(RMRP):n.97_98dup rs1340624774

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