ClinVar Miner

List of variants reported as pathogenic for ectodermal dysplasia syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1737
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly) rs199473676 0.00026
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_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919 0.00012
NM_025099.6(CTC1):c.680C>T (p.Ala227Val) rs199473673 0.00011
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_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_198253.3(TERT):c.2320C>T (p.Arg774Ter) rs770066110 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_002582.4(PARN):c.1749_1750del (p.Glu585fs) rs1194089098 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter) rs199840434 0.00005
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_025099.6(CTC1):c.1683dup (p.Lys562Ter) rs1053748363 0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 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_004415.4(DSP):c.4855del (p.Leu1619fs) rs1231490307 0.00003
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092 0.00003
NM_024589.3(ROGDI):c.334C>T (p.Gln112Ter) rs372097881 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_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_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.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 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_020779.4(WDR35):c.584_585del (p.Leu195fs) rs756004566 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_025099.6(CTC1):c.1360del (p.Glu454fs) rs748852501 0.00002
NM_025099.6(CTC1):c.2758+1G>T rs200609323 0.00002
NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter) rs200919310 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_052989.3(IFT122):c.2668C>T (p.Arg890Ter) rs1039467525 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_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424 0.00002
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 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.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_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_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_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.948_949del (p.Val318fs) rs1461036243 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.5940dup (p.Tyr1981fs) rs1561701721 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_020779.4(WDR35):c.1381C>T (p.Arg461Ter) rs767751856 0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119 0.00001
NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr) rs1310296844 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.931G>T (p.Glu311Ter) rs1432041144 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_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.2452C>T (p.Arg818Ter) rs760884555 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.3538C>T (p.Gln1180Ter) rs562356966 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_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_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.893del (p.His298fs) rs777505711 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.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_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NC_000001.11:g.236468231_236468234del
NC_000002.11:g.(?_108604612)_(109579739_?)del
NC_000002.11:g.(?_109513363)_(109524495_?)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_000002.12:g.(?_218880976)_(218893291_?)del
NC_000003.11:g.(?_129159174)_(129214470_?)del
NC_000003.12:g.169763867_169764687del rs1553915517
NC_000003.12:g.169764994del rs1777964165
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.(?_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_000005.9: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.(?_482643)_(1895829_?)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_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_000008.11:g.(?_115586981)_(115587624_?)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_000013.10:g.(?_20797176)_21105944del
NC_000016.10:g.(?_4797440)_(4802591_?)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_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_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_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.(?_69616289)_(69616724_?)del
NC_000023.11:g.(?_69616289)_(69670280_?)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.70027876_70027911del rs397516665
NC_000023.11:g.70027902_70027919del rs397516668
NC_000023.11:g.70027993_70028027del rs397516670
NM_000165.5(GJA1):c.113G>A (p.Gly38Glu)
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) rs1554200992
NM_000165.5(GJA1):c.140A>T (p.Asp47Val) rs1554200995
NM_000165.5(GJA1):c.187A>G (p.Asn63Asp)
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.32T>A (p.Leu11His)
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.53C>A (p.Ser18Ter) rs1773898086
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.679G>C (p.Glu227Gln)
NM_001006657.2(WDR35):c.1210dup (p.Glu404fs) rs1327489348
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs) rs1566366182
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.849dup (p.Thr284fs) rs199422315
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001283009.2(RTEL1):c.1001_1014del (p.Leu334fs) rs1601133145
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.1194del (p.Ile398fs) rs2145411193
NM_001283009.2(RTEL1):c.1215dup (p.Glu406fs)
NM_001283009.2(RTEL1):c.1216del (p.Glu406fs) rs2145411302
NM_001283009.2(RTEL1):c.1244dup (p.Ala417fs) rs2145411399
NM_001283009.2(RTEL1):c.1263T>A (p.Tyr421Ter) rs2145411479
NM_001283009.2(RTEL1):c.1345C>T (p.Arg449Ter)
NM_001283009.2(RTEL1):c.1367G>A (p.Trp456Ter)
NM_001283009.2(RTEL1):c.1419dup (p.Ser474fs)
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.1778_1781dup (p.Ser594fs)
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)
NM_001283009.2(RTEL1):c.1858del (p.Leu620fs)
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.2023del (p.Gln675fs)
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.2098del (p.Arg700fs) rs2090684427
NM_001283009.2(RTEL1):c.2197_2198del (p.Arg733fs)
NM_001283009.2(RTEL1):c.2200del (p.Val734fs)
NM_001283009.2(RTEL1):c.2227C>T (p.Arg743Ter) rs2145430878
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.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.2544del (p.Gly849fs)
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.2924del (p.Gly975fs)
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.3096del (p.Arg1032fs)
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.3232C>T (p.Gln1078Ter)
NM_001283009.2(RTEL1):c.3262C>T (p.Gln1088Ter)
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.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.3552_3555del (p.Phe1184fs)
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.463_464del (p.Glu154_Ser155insTer)
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.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.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_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.5_7del (p.Ala2del)
NM_001363.5(DKC1):c.915+10G>A rs1603429509
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.1144del (p.Ala382fs)
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.181T>C (p.Tyr61His) rs132630308
NM_001399.5(EDA):c.183C>G (p.Tyr61Ter) rs132630318
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.28G>T (p.Glu10Ter)
NM_001399.5(EDA):c.2T>G (p.Met1Arg)
NM_001399.5(EDA):c.326dup (p.Ser110fs) rs2147198269
NM_001399.5(EDA):c.396+4dup rs1569272528
NM_001399.5(EDA):c.397-1G>C
NM_001399.5(EDA):c.397-2A>T
NM_001399.5(EDA):c.413_416del (p.Phe138fs) rs2019017595
NM_001399.5(EDA):c.441dup (p.Glu148Ter) rs2147419086
NM_001399.5(EDA):c.448G>T (p.Glu150Ter)
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.479G>A (p.Ser160Asn) rs1556039088
NM_001399.5(EDA):c.486_487insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAAAAGC (p.Asn163delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
NM_001399.5(EDA):c.494G>C (p.Gly165Ala) rs1057521131
NM_001399.5(EDA):c.497del (p.Ala166fs) rs2147419276
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.576_592del (p.Pro193fs) rs2147509622
NM_001399.5(EDA):c.585_697del (p.Pro196fs) rs2147509660
NM_001399.5(EDA):c.585_706+6delinsTCCTCCTGGTCC
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.605_631del (p.Ile202_Gly210del) rs1602618255
NM_001399.5(EDA):c.610G>A (p.Gly204Arg) rs2020139065
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.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.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.706+1G>A rs886039344
NM_001399.5(EDA):c.706+5G>T rs780966428
NM_001399.5(EDA):c.707-13T>G rs2147511678
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.742-2A>G
NM_001399.5(EDA):c.754C>T (p.His252Tyr)
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.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.850T>C (p.Phe284Leu)
NM_001399.5(EDA):c.865C>T (p.Arg289Cys) rs879255551
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.872G>T (p.Gly291Val)
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.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.931del (p.Tyr311fs)
NM_001399.5(EDA):c.970G>A (p.Val324Met) rs1556110308
NM_001399.5(EDA):c.984dup (p.Phe329fs)
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_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.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.1202_1214del (p.Glu401fs)
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.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.328G>T (p.Glu110Ter)
NM_001814.6(CTSC):c.351C>G (p.Tyr117Ter)
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.45del (p.Leu16fs)
NM_001814.6(CTSC):c.478C>T (p.Gln160Ter)
NM_001814.6(CTSC):c.509dup (p.Tyr170Ter)
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.628C>T (p.Arg210Ter)
NM_001814.6(CTSC):c.648_649delinsCTGACTG (p.Lys216_Pro217delinsAsnTer)
NM_001814.6(CTSC):c.672dup (p.Gln225fs)
NM_001814.6(CTSC):c.706del (p.Asp236fs)
NM_001814.6(CTSC):c.711G>A (p.Trp237Ter)
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.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.877C>T (p.Gln293Ter)
NM_001814.6(CTSC):c.889+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_002448.3(MSX1):c.280C>T (p.Gln94Ter) rs2108777701
NM_002448.3(MSX1):c.365dup (p.Leu123fs)
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.668_669del (p.Arg223fs)
NM_002448.3(MSX1):c.683dup (p.Arg229fs) rs1737950636
NM_002448.3(MSX1):c.691_692del (p.Gln231fs)
NM_002582.4(PARN):c.1064del (p.Phe355fs)
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.122_123del (p.Ser41fs)
NM_002582.4(PARN):c.1257del (p.Phe419fs) rs942538351
NM_002582.4(PARN):c.1363G>T (p.Glu455Ter)
NM_002582.4(PARN):c.1414C>T (p.Gln472Ter)
NM_002582.4(PARN):c.1536del (p.Glu511_Tyr512insTer)
NM_002582.4(PARN):c.1577G>A (p.Trp526Ter)
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.24dup (p.Lys9Ter)
NM_002582.4(PARN):c.305dup (p.Asp103fs)
NM_002582.4(PARN):c.351_352dup (p.Ser118fs)
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.643C>T (p.Gln215Ter)
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.758_759del (p.Glu253fs) rs2151787383
NM_002582.4(PARN):c.925del (p.Ser309fs)
NM_002582.4(PARN):c.994C>T (p.Gln332Ter)
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.1232del (p.Leu411fs)
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.1304_1305dup (p.Gln436fs)
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.1478G>A (p.Trp493Ter)
NM_004415.4(DSP):c.1479G>A (p.Trp493Ter) rs1758962311
NM_004415.4(DSP):c.1482C>A (p.Tyr494Ter)
NM_004415.4(DSP):c.151C>T (p.Gln51Ter) rs794728156
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.169_170+13del rs2113629234
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.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.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.1988_1998del (p.Lys663fs)
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.202C>T (p.Gln68Ter)
NM_004415.4(DSP):c.2040_2043del (p.Glu680fs)
NM_004415.4(DSP):c.2060del (p.Thr687fs) rs2113680129
NM_004415.4(DSP):c.2068_2069del (p.Asn690fs)
NM_004415.4(DSP):c.2086C>T (p.Gln696Ter)
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.2161G>T (p.Glu721Ter)
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.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.243_251del (p.Cys81_Arg84delinsTer) rs794728135
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.2601G>A (p.Trp867Ter)
NM_004415.4(DSP):c.2602C>T (p.Gln868Ter) rs1060500618
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.2735T>A (p.Leu912Ter)
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.2854G>T (p.Glu952Ter)
NM_004415.4(DSP):c.2870_2874del (p.Asn956_Ser957insTer) rs794728139
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.3018dup (p.Leu1007fs)
NM_004415.4(DSP):c.3038_3039del (p.Tyr1013fs)
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.3126_3127delinsT (p.Arg1042fs) rs1561696970
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.3226del (p.Ala1077fs)
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.3316G>T (p.Glu1106Ter) rs1131691673
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.3391dup (p.Arg1131fs)
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.3529_3530dup (p.Leu1178fs)
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.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.3905_3906dup (p.Ser1303fs)
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)
NM_004415.4(DSP):c.3932_3936del (p.Gln1311fs)
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.4219G>T (p.Glu1407Ter)
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.4305_4311del (p.Thr1436fs) rs2113693785
NM_004415.4(DSP):c.4324C>T (p.Gln1442Ter)
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.4678C>T (p.Gln1560Ter)
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.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.4850dup (p.Gln1618fs)
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.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.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.5135del (p.Asn1712fs)
NM_004415.4(DSP):c.5146G>T (p.Glu1716Ter)
NM_004415.4(DSP):c.5146del (p.Glu1716fs)
NM_004415.4(DSP):c.5154del (p.Met1719fs)
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.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.5375T>A (p.Leu1792Ter)
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.5783T>G (p.Leu1928Ter)
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.620G>A (p.Trp207Ter)
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.6473del (p.Leu2158fs)
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.6498dup (p.Asp2167fs)
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.6536del (p.Lys2179fs)
NM_004415.4(DSP):c.6562del (p.Glu2188fs) rs2113700654
NM_004415.4(DSP):c.6563_6566dup (p.Cys2190fs)
NM_004415.4(DSP):c.6583_6584del (p.His2195fs) rs1561702771
NM_004415.4(DSP):c.6605del (p.Leu2201_Ser2202insTer)
NM_004415.4(DSP):c.6693_6699del (p.Thr2232fs)
NM_004415.4(DSP):c.6695_6696del (p.Thr2232fs)
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.6792C>A (p.Tyr2264Ter)
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.7054C>T (p.Gln2352Ter)
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.7127_7128del (p.Gly2376fs)
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.7470T>G (p.Tyr2490Ter)
NM_004415.4(DSP):c.7498del (p.Glu2500fs)
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.7756C>T (p.Arg2586Ter)
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs) rs763560697
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.8111dup (p.Lys2705fs)
NM_004415.4(DSP):c.8140A>T (p.Lys2714Ter)
NM_004415.4(DSP):c.8143del (p.Glu2715fs)
NM_004415.4(DSP):c.8148dup (p.Trp2717fs)
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.8188del (p.Gln2730fs) rs886038929
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.85G>T (p.Glu29Ter) rs1320349488
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.972del (p.Glu325fs)
NM_004415.4(DSP):c.991C>T (p.Gln331Ter) rs121912991
NM_004415.4(DSP):c.997del (p.Ser333fs)
NM_014112.5(TRPS1):c.1014_1017dup (p.Gln340fs) rs1563638577
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter) rs1554596393
NM_014112.5(TRPS1):c.1168A>T (p.Lys390Ter)
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.1312C>T (p.Gln438Ter)
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.1508C>G (p.Ser503Ter)
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.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.1997del (p.Gly666fs)
NM_014112.5(TRPS1):c.2049del (p.Lys683fs)
NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter) rs368166434
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.2420G>A (p.Trp807Ter)
NM_014112.5(TRPS1):c.2453C>A (p.Ser818Ter) rs2130444603
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.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.2700+1G>A rs1586430684
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.2793dup (p.Ala932fs)
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.2893C>T (p.Arg965Cys) rs28939069
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His) rs28939070
NM_014112.5(TRPS1):c.2923C>T (p.Gln975Ter)
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.3461_3462del (p.Tyr1154fs)
NM_014112.5(TRPS1):c.3461dup (p.Tyr1154Ter) rs1812863711
NM_014112.5(TRPS1):c.3556_3559dup (p.Gly1187fs)
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.769C>T (p.Arg257Ter) rs2130531352
NM_014112.5(TRPS1):c.801del (p.Arg268fs)
NM_014112.5(TRPS1):c.913C>T (p.Gln305Ter) rs1297221126
NM_014112.5(TRPS1):c.954del (p.Tyr319fs)
NM_014112.5(TRPS1):c.964C>T (p.Gln322Ter) rs2130530613
NM_020529.3(NFKBIA):c.25C>T (p.Gln9Ter) rs886041411
NM_020529.3(NFKBIA):c.95G>A (p.Ser32Asn) rs28933100
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.1714C>T (p.Gln572Ter)
NM_020779.4(WDR35):c.171_178del (p.Ser59fs)
NM_020779.4(WDR35):c.1954_1955insAAAC (p.Leu652fs) rs2103406171
NM_020779.4(WDR35):c.2638dup (p.Thr880fs) rs2103399754
NM_020779.4(WDR35):c.2701G>T (p.Glu901Ter)
NM_020779.4(WDR35):c.2713_2714del (p.Leu905fs)
NM_020779.4(WDR35):c.2976del (p.Leu993fs) rs1490771127
NM_020779.4(WDR35):c.297del (p.Met99fs) rs867715686
NM_020779.4(WDR35):c.519del (p.Phe173fs)
NM_020779.4(WDR35):c.524del (p.Met175fs)
NM_022336.4(EDAR):c.1024+1G>A rs1553444895
NM_022336.4(EDAR):c.1024+1G>T
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.1090del (p.Tyr364fs)
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.1164del (p.Ile388fs)
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.292C>T (p.Arg98Trp) rs557166582
NM_022336.4(EDAR):c.293G>A (p.Arg98Gln) rs144473052
NM_022336.4(EDAR):c.641dup (p.Pro215fs)
NM_022336.4(EDAR):c.73C>T (p.Arg25Ter)
NM_022336.4(EDAR):c.931del (p.Glu311fs)
NM_022336.4(EDAR):c.964-1G>A rs2105390253
NM_022336.4(EDAR):c.979A>T (p.Lys327Ter) rs1696805876
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.506_507dup (p.Glu170fs) rs786205124
NM_024589.3(ROGDI):c.507del (p.Glu170fs) rs786205124
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.652del (p.Arg218fs)
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_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.2053C>T (p.Gln685Ter)
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.3456_3462del (p.Arg1153fs) rs1986920257
NM_025099.6(CTC1):c.385_394del (p.Arg129fs)
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.650del (p.Asn217fs)
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.879_897del (p.Gly293_Gln294insTer)
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_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.1141del (p.His381fs)
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.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.259C>T (p.Gln87Ter)
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.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.799_800del (p.Thr267fs)
NM_025216.3(WNT10A):c.803C>G (p.Ser268Ter) rs886039454
NM_025216.3(WNT10A):c.812del (p.Cys271fs)
NM_025216.3(WNT10A):c.813C>A (p.Cys271Ter)
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter) rs773036759
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.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_052989.3(IFT122):c.1141C>T (p.Gln381Ter)
NM_052989.3(IFT122):c.1198C>T (p.Arg400Ter)
NM_052989.3(IFT122):c.1276_1277insAATGCATG (p.Val426fs)
NM_052989.3(IFT122):c.1432dup (p.Val478fs) rs2108311256
NM_052989.3(IFT122):c.1963del (p.Glu655fs)
NM_052989.3(IFT122):c.2064del (p.Glu689fs)
NM_052989.3(IFT122):c.2313C>A (p.Tyr771Ter)
NM_052989.3(IFT122):c.2705_2706del (p.Thr902fs)
NM_052989.3(IFT122):c.273-257C>A
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_3080delinsGTA (p.Tyr1026fs)
NM_052989.3(IFT122):c.3180C>A (p.Cys1060Ter)
NM_052989.3(IFT122):c.3194dup (p.Leu1066fs)
NM_052989.3(IFT122):c.3422dup (p.Asp1142fs)
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.3576G>A (p.Trp1192Ter)
NM_052989.3(IFT122):c.384del (p.Lys128fs)
NM_052989.3(IFT122):c.419G>A (p.Trp140Ter)
NM_052989.3(IFT122):c.443_449dup (p.Met151fs)
NM_052989.3(IFT122):c.916_917del (p.Leu306fs)
NM_052989.3(IFT122):c.982C>T (p.Gln328Ter)
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.1667_1668del (p.Pro556fs)
NM_147127.5(EVC2):c.1706del (p.Ile569fs)
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.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.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.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.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.2938G>T (p.Glu980Ter)
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)
NM_147127.5(EVC2):c.2954del (p.Tyr985fs) rs2108788549
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.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.3575G>A (p.Trp1192Ter)
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.3797T>G (p.Leu1266Ter) rs1577093161
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_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.130dup (p.Leu44fs)
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter) rs1730760070
NM_153717.3(EVC):c.1346del (p.Thr449fs)
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.1416del (p.Phe473fs) rs768485560
NM_153717.3(EVC):c.1452_1464dup (p.Ala489fs)
NM_153717.3(EVC):c.1455del (p.Lys485fs)
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.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.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.2098G>T (p.Glu700Ter)
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.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+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.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.618-1G>A
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.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.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_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.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.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.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.2001C>G (p.Tyr667Ter)
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.2548_2563del (p.Glu850fs)
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.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.2924_2925del (p.Phe975fs)
NM_198253.3(TERT):c.2943del (p.Lys981fs)
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.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
NR_001566.3(TERC):n.108_111delCTGA rs199422270
NR_001566.3(TERC):n.52_55delCTAA rs199422263

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