Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.224503658C>ACA350826895CUL3c.1371G>T (p.Lys457Asn)
c.1173G>T (p.Lys391Asn)
c.1299G>T (p.Lys433Asn)
n.667G>T
c.93G>T (p.Lys31Asn)
c.1389G>T (p.Lys463Asn)
c.1338G>T (p.Lys446Asn)
c.1224G>T (p.Lys408Asn)
c.1329G>T (p.Lys443Asn)
c.1179G>T (p.Lys393Asn)
c.1071G>T (p.Lys357Asn)
2g.224503658C>GCA350826897CUL3c.1371G>C (p.Lys457Asn)
c.1173G>C (p.Lys391Asn)
c.1299G>C (p.Lys433Asn)
n.667G>C
c.93G>C (p.Lys31Asn)
c.1389G>C (p.Lys463Asn)
c.1338G>C (p.Lys446Asn)
c.1224G>C (p.Lys408Asn)
c.1329G>C (p.Lys443Asn)
c.1179G>C (p.Lys393Asn)
c.1071G>C (p.Lys357Asn)
2g.224503658C>TCA431492558CUL3c.1371G>A (p.Lys457=)
c.1173G>A (p.Lys391=)
c.1299G>A (p.Lys433=)
n.667G>A
c.93G>A (p.Lys31=)
c.1389G>A (p.Lys463=)
c.1338G>A (p.Lys446=)
c.1224G>A (p.Lys408=)
c.1329G>A (p.Lys443=)
c.1179G>A (p.Lys393=)
c.1071G>A (p.Lys357=)
2g.224503659T>ACA350826900CUL3c.1370A>T (p.Lys457Met)
c.1172A>T (p.Lys391Met)
c.1298A>T (p.Lys433Met)
n.666A>T
c.92A>T (p.Lys31Met)
c.1388A>T (p.Lys463Met)
c.1337A>T (p.Lys446Met)
c.1223A>T (p.Lys408Met)
c.1328A>T (p.Lys443Met)
c.1178A>T (p.Lys393Met)
c.1070A>T (p.Lys357Met)
2g.224503659T>CCA350826901CUL3c.1370A>G (p.Lys457Arg)
c.1172A>G (p.Lys391Arg)
c.1298A>G (p.Lys433Arg)
n.666A>G
c.92A>G (p.Lys31Arg)
c.1388A>G (p.Lys463Arg)
c.1337A>G (p.Lys446Arg)
c.1223A>G (p.Lys408Arg)
c.1328A>G (p.Lys443Arg)
c.1178A>G (p.Lys393Arg)
c.1070A>G (p.Lys357Arg)
 dbSNP
2g.224503659T>GCA350826902CUL3c.1370A>C (p.Lys457Thr)
c.1172A>C (p.Lys391Thr)
c.1298A>C (p.Lys433Thr)
n.666A>C
c.92A>C (p.Lys31Thr)
c.1388A>C (p.Lys463Thr)
c.1337A>C (p.Lys446Thr)
c.1223A>C (p.Lys408Thr)
c.1328A>C (p.Lys443Thr)
c.1178A>C (p.Lys393Thr)
c.1070A>C (p.Lys357Thr)
2g.224503660T>ACA350826904CUL3c.1369A>T (p.Lys457Ter)
c.1171A>T (p.Lys391Ter)
c.1297A>T (p.Lys433Ter)
n.665A>T
c.91A>T (p.Lys31Ter)
c.1387A>T (p.Lys463Ter)
c.1336A>T (p.Lys446Ter)
c.1222A>T (p.Lys408Ter)
c.1327A>T (p.Lys443Ter)
c.1177A>T (p.Lys393Ter)
c.1069A>T (p.Lys357Ter)
 dbSNP
2g.224503660T>CCA350826906CUL3c.1369A>G (p.Lys457Glu)
c.1171A>G (p.Lys391Glu)
c.1297A>G (p.Lys433Glu)
n.665A>G
c.91A>G (p.Lys31Glu)
c.1387A>G (p.Lys463Glu)
c.1336A>G (p.Lys446Glu)
c.1222A>G (p.Lys408Glu)
c.1327A>G (p.Lys443Glu)
c.1177A>G (p.Lys393Glu)
c.1069A>G (p.Lys357Glu)
 dbSNP
2g.224503660T>GCA350826907CUL3c.1369A>C (p.Lys457Gln)
c.1171A>C (p.Lys391Gln)
c.1297A>C (p.Lys433Gln)
n.665A>C
c.91A>C (p.Lys31Gln)
c.1387A>C (p.Lys463Gln)
c.1336A>C (p.Lys446Gln)
c.1222A>C (p.Lys408Gln)
c.1327A>C (p.Lys443Gln)
c.1177A>C (p.Lys393Gln)
c.1069A>C (p.Lys357Gln)
2g.224503661A>CCA431492560CUL3c.1368T>G (p.Ser456=)
c.1170T>G (p.Ser390=)
c.1296T>G (p.Ser432=)
n.664T>G
c.90T>G (p.Ser30=)
c.1386T>G (p.Ser462=)
c.1335T>G (p.Ser445=)
c.1221T>G (p.Ser407=)
c.1326T>G (p.Ser442=)
c.1176T>G (p.Ser392=)
c.1068T>G (p.Ser356=)
2g.224503661A>GCA431492563CUL3c.1368T>C (p.Ser456=)
c.1170T>C (p.Ser390=)
c.1296T>C (p.Ser432=)
n.664T>C
c.90T>C (p.Ser30=)
c.1386T>C (p.Ser462=)
c.1335T>C (p.Ser445=)
c.1221T>C (p.Ser407=)
c.1326T>C (p.Ser442=)
c.1176T>C (p.Ser392=)
c.1068T>C (p.Ser356=)
2g.224503661A>TCA431492562CUL3c.1368T>A (p.Ser456=)
c.1170T>A (p.Ser390=)
c.1296T>A (p.Ser432=)
n.664T>A
c.90T>A (p.Ser30=)
c.1386T>A (p.Ser462=)
c.1335T>A (p.Ser445=)
c.1221T>A (p.Ser407=)
c.1326T>A (p.Ser442=)
c.1176T>A (p.Ser392=)
c.1068T>A (p.Ser356=)
 dbSNP
2g.224503662G>ACA350826909CUL3c.1367C>T (p.Ser456Phe)
c.1169C>T (p.Ser390Phe)
c.1295C>T (p.Ser432Phe)
n.663C>T
c.89C>T (p.Ser30Phe)
c.1385C>T (p.Ser462Phe)
c.1334C>T (p.Ser445Phe)
c.1220C>T (p.Ser407Phe)
c.1325C>T (p.Ser442Phe)
c.1175C>T (p.Ser392Phe)
c.1067C>T (p.Ser356Phe)
 dbSNP gnomAD v4
2g.224503662G>CCA350826910CUL3c.1367C>G (p.Ser456Cys)
c.1169C>G (p.Ser390Cys)
c.1295C>G (p.Ser432Cys)
n.663C>G
c.89C>G (p.Ser30Cys)
c.1385C>G (p.Ser462Cys)
c.1334C>G (p.Ser445Cys)
c.1220C>G (p.Ser407Cys)
c.1325C>G (p.Ser442Cys)
c.1175C>G (p.Ser392Cys)
c.1067C>G (p.Ser356Cys)
 dbSNP
2g.224503662G=CA1331555923CUL3c.1367C= (p.Ser456=)
c.1169C= (p.Ser390=)
c.1295C= (p.Ser432=)
n.663C=
c.89C= (p.Ser30=)
c.1385C= (p.Ser462=)
c.1334C= (p.Ser445=)
c.1220C= (p.Ser407=)
c.1325C= (p.Ser442=)
c.1175C= (p.Ser392=)
c.1067C= (p.Ser356=)
2g.224503662G>TCA350826913CUL3c.1367C>A (p.Ser456Tyr)
c.1169C>A (p.Ser390Tyr)
c.1295C>A (p.Ser432Tyr)
n.663C>A
c.89C>A (p.Ser30Tyr)
c.1385C>A (p.Ser462Tyr)
c.1334C>A (p.Ser445Tyr)
c.1220C>A (p.Ser407Tyr)
c.1325C>A (p.Ser442Tyr)
c.1175C>A (p.Ser392Tyr)
c.1067C>A (p.Ser356Tyr)
 dbSNP
2g.224503663delCA645514934CUL3c.1366del (p.Ser456LeufsTer3)
c.1168del (p.Ser390LeufsTer3)
c.1294del (p.Ser432LeufsTer3)
n.662del
c.88del (p.Ser30LeufsTer3)
c.1384del (p.Ser462LeufsTer3)
c.1333del (p.Ser445LeufsTer3)
c.1219del (p.Ser407LeufsTer3)
c.1324del (p.Ser442LeufsTer3)
c.1174del (p.Ser392LeufsTer3)
c.1066del (p.Ser356LeufsTer3)
 COSMIC
2g.224503663A>CCA350826917CUL3c.1366T>G (p.Ser456Ala)
c.1168T>G (p.Ser390Ala)
c.1294T>G (p.Ser432Ala)
n.662T>G
c.88T>G (p.Ser30Ala)
c.1384T>G (p.Ser462Ala)
c.1333T>G (p.Ser445Ala)
c.1219T>G (p.Ser407Ala)
c.1324T>G (p.Ser442Ala)
c.1174T>G (p.Ser392Ala)
c.1066T>G (p.Ser356Ala)
2g.224503663A>GCA350826919CUL3c.1366T>C (p.Ser456Pro)
c.1168T>C (p.Ser390Pro)
c.1294T>C (p.Ser432Pro)
n.662T>C
c.88T>C (p.Ser30Pro)
c.1384T>C (p.Ser462Pro)
c.1333T>C (p.Ser445Pro)
c.1219T>C (p.Ser407Pro)
c.1324T>C (p.Ser442Pro)
c.1174T>C (p.Ser392Pro)
c.1066T>C (p.Ser356Pro)
 gnomAD v4
2g.224503663A>TCA350826915CUL3c.1366T>A (p.Ser456Thr)
c.1168T>A (p.Ser390Thr)
c.1294T>A (p.Ser432Thr)
n.662T>A
c.88T>A (p.Ser30Thr)
c.1384T>A (p.Ser462Thr)
c.1333T>A (p.Ser445Thr)
c.1219T>A (p.Ser407Thr)
c.1324T>A (p.Ser442Thr)
c.1174T>A (p.Ser392Thr)
c.1066T>A (p.Ser356Thr)
 dbSNP
2g.224503664T>ACA431492564CUL3c.1365A>T (p.Ile455=)
c.1167A>T (p.Ile389=)
c.1293A>T (p.Ile431=)
n.661A>T
c.87A>T (p.Ile29=)
c.1383A>T (p.Ile461=)
c.1332A>T (p.Ile444=)
c.1218A>T (p.Ile406=)
c.1323A>T (p.Ile441=)
c.1173A>T (p.Ile391=)
c.1065A>T (p.Ile355=)
2g.224503664T>CCA2140015CUL3c.1365A>G (p.Ile455Met)
c.1167A>G (p.Ile389Met)
c.1293A>G (p.Ile431Met)
n.661A>G
c.87A>G (p.Ile29Met)
c.1383A>G (p.Ile461Met)
c.1332A>G (p.Ile444Met)
c.1218A>G (p.Ile406Met)
c.1323A>G (p.Ile441Met)
c.1173A>G (p.Ile391Met)
c.1065A>G (p.Ile355Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.224503664T>GCA431492565CUL3c.1365A>C (p.Ile455=)
c.1167A>C (p.Ile389=)
c.1293A>C (p.Ile431=)
n.661A>C
c.87A>C (p.Ile29=)
c.1383A>C (p.Ile461=)
c.1332A>C (p.Ile444=)
c.1218A>C (p.Ile406=)
c.1323A>C (p.Ile441=)
c.1173A>C (p.Ile391=)
c.1065A>C (p.Ile355=)
2g.224503664T=CA1331555924CUL3c.1365A= (p.Ile455=)
c.1167A= (p.Ile389=)
c.1293A= (p.Ile431=)
n.661A=
c.87A= (p.Ile29=)
c.1383A= (p.Ile461=)
c.1332A= (p.Ile444=)
c.1218A= (p.Ile406=)
c.1323A= (p.Ile441=)
c.1173A= (p.Ile391=)
c.1065A= (p.Ile355=)
2g.224503665A>CCA350826922CUL3c.1364T>G (p.Ile455Arg)
c.1166T>G (p.Ile389Arg)
c.1292T>G (p.Ile431Arg)
n.660T>G
c.86T>G (p.Ile29Arg)
c.1382T>G (p.Ile461Arg)
c.1331T>G (p.Ile444Arg)
c.1217T>G (p.Ile406Arg)
c.1322T>G (p.Ile441Arg)
c.1172T>G (p.Ile391Arg)
c.1064T>G (p.Ile355Arg)
2g.224503665A>GCA350826924CUL3c.1364T>C (p.Ile455Thr)
c.1166T>C (p.Ile389Thr)
c.1292T>C (p.Ile431Thr)
n.660T>C
c.86T>C (p.Ile29Thr)
c.1382T>C (p.Ile461Thr)
c.1331T>C (p.Ile444Thr)
c.1217T>C (p.Ile406Thr)
c.1322T>C (p.Ile441Thr)
c.1172T>C (p.Ile391Thr)
c.1064T>C (p.Ile355Thr)
2g.224503665A>TCA350826926CUL3c.1364T>A (p.Ile455Lys)
c.1166T>A (p.Ile389Lys)
c.1292T>A (p.Ile431Lys)
n.660T>A
c.86T>A (p.Ile29Lys)
c.1382T>A (p.Ile461Lys)
c.1331T>A (p.Ile444Lys)
c.1217T>A (p.Ile406Lys)
c.1322T>A (p.Ile441Lys)
c.1172T>A (p.Ile391Lys)
c.1064T>A (p.Ile355Lys)
 dbSNP
2g.224503667_224503669delCA2663372487CUL3c.1362_1364del (p.Met454del)
c.1164_1166del (p.Met388del)
c.1290_1292del (p.Met430del)
n.658_660del
c.84_86del (p.Met28del)
c.1380_1382del (p.Met460del)
c.1329_1331del (p.Met443del)
c.1215_1217del (p.Met405del)
c.1320_1322del (p.Met440del)
c.1170_1172del (p.Met390del)
c.1062_1064del (p.Met354del)
 gnomAD v4
2g.224503666T>ACA350826933CUL3c.1363A>T (p.Ile455Leu)
c.1165A>T (p.Ile389Leu)
c.1291A>T (p.Ile431Leu)
n.659A>T
c.85A>T (p.Ile29Leu)
c.1381A>T (p.Ile461Leu)
c.1330A>T (p.Ile444Leu)
c.1216A>T (p.Ile406Leu)
c.1321A>T (p.Ile441Leu)
c.1171A>T (p.Ile391Leu)
c.1063A>T (p.Ile355Leu)
 dbSNP
2g.224503666T>CCA350826931CUL3c.1363A>G (p.Ile455Val)
c.1165A>G (p.Ile389Val)
c.1291A>G (p.Ile431Val)
n.659A>G
c.85A>G (p.Ile29Val)
c.1381A>G (p.Ile461Val)
c.1330A>G (p.Ile444Val)
c.1216A>G (p.Ile406Val)
c.1321A>G (p.Ile441Val)
c.1171A>G (p.Ile391Val)
c.1063A>G (p.Ile355Val)
2g.224503666T>GCA350826929CUL3c.1363A>C (p.Ile455Leu)
c.1165A>C (p.Ile389Leu)
c.1291A>C (p.Ile431Leu)
n.659A>C
c.85A>C (p.Ile29Leu)
c.1381A>C (p.Ile461Leu)
c.1330A>C (p.Ile444Leu)
c.1216A>C (p.Ile406Leu)
c.1321A>C (p.Ile441Leu)
c.1171A>C (p.Ile391Leu)
c.1063A>C (p.Ile355Leu)
2g.224503667C>ACA350826935CUL3c.1362G>T (p.Met454Ile)
c.1164G>T (p.Met388Ile)
c.1290G>T (p.Met430Ile)
n.658G>T
c.84G>T (p.Met28Ile)
c.1380G>T (p.Met460Ile)
c.1329G>T (p.Met443Ile)
c.1215G>T (p.Met405Ile)
c.1320G>T (p.Met440Ile)
c.1170G>T (p.Met390Ile)
c.1062G>T (p.Met354Ile)
 gnomAD v4
2g.224503667C>GCA350826936CUL3c.1362G>C (p.Met454Ile)
c.1164G>C (p.Met388Ile)
c.1290G>C (p.Met430Ile)
n.658G>C
c.84G>C (p.Met28Ile)
c.1380G>C (p.Met460Ile)
c.1329G>C (p.Met443Ile)
c.1215G>C (p.Met405Ile)
c.1320G>C (p.Met440Ile)
c.1170G>C (p.Met390Ile)
c.1062G>C (p.Met354Ile)
 dbSNP
2g.224503667C>TCA350826939CUL3c.1362G>A (p.Met454Ile)
c.1164G>A (p.Met388Ile)
c.1290G>A (p.Met430Ile)
n.658G>A
c.84G>A (p.Met28Ile)
c.1380G>A (p.Met460Ile)
c.1329G>A (p.Met443Ile)
c.1215G>A (p.Met405Ile)
c.1320G>A (p.Met440Ile)
c.1170G>A (p.Met390Ile)
c.1062G>A (p.Met354Ile)
 dbSNP
2g.224503668A>CCA350826941CUL3c.1361T>G (p.Met454Arg)
c.1163T>G (p.Met388Arg)
c.1289T>G (p.Met430Arg)
n.657T>G
c.83T>G (p.Met28Arg)
c.1379T>G (p.Met460Arg)
c.1328T>G (p.Met443Arg)
c.1214T>G (p.Met405Arg)
c.1319T>G (p.Met440Arg)
c.1169T>G (p.Met390Arg)
c.1061T>G (p.Met354Arg)
2g.224503668A>GCA350826942CUL3c.1361T>C (p.Met454Thr)
c.1163T>C (p.Met388Thr)
c.1289T>C (p.Met430Thr)
n.657T>C
c.83T>C (p.Met28Thr)
c.1379T>C (p.Met460Thr)
c.1328T>C (p.Met443Thr)
c.1214T>C (p.Met405Thr)
c.1319T>C (p.Met440Thr)
c.1169T>C (p.Met390Thr)
c.1061T>C (p.Met354Thr)
2g.224503668A>TCA350826943CUL3c.1361T>A (p.Met454Lys)
c.1163T>A (p.Met388Lys)
c.1289T>A (p.Met430Lys)
n.657T>A
c.83T>A (p.Met28Lys)
c.1379T>A (p.Met460Lys)
c.1328T>A (p.Met443Lys)
c.1214T>A (p.Met405Lys)
c.1319T>A (p.Met440Lys)
c.1169T>A (p.Met390Lys)
c.1061T>A (p.Met354Lys)
 dbSNP
2g.224503669delCA2697550485CUL3c.1360del (p.Met454Ter)
c.1162del (p.Met388Ter)
c.1288del (p.Met430Ter)
n.656del
c.82del (p.Met28Ter)
c.1378del (p.Met460Ter)
c.1327del (p.Met443Ter)
c.1213del (p.Met405Ter)
c.1318del (p.Met440Ter)
c.1168del (p.Met390Ter)
c.1060del (p.Met354Ter)
 ClinVar
2g.224503669T>ACA350826945CUL3c.1360A>T (p.Met454Leu)
c.1162A>T (p.Met388Leu)
c.1288A>T (p.Met430Leu)
n.656A>T
c.82A>T (p.Met28Leu)
c.1378A>T (p.Met460Leu)
c.1327A>T (p.Met443Leu)
c.1213A>T (p.Met405Leu)
c.1318A>T (p.Met440Leu)
c.1168A>T (p.Met390Leu)
c.1060A>T (p.Met354Leu)
2g.224503669T>CCA66534321CUL3c.1360A>G (p.Met454Val)
c.1162A>G (p.Met388Val)
c.1288A>G (p.Met430Val)
n.656A>G
c.82A>G (p.Met28Val)
c.1378A>G (p.Met460Val)
c.1327A>G (p.Met443Val)
c.1213A>G (p.Met405Val)
c.1318A>G (p.Met440Val)
c.1168A>G (p.Met390Val)
c.1060A>G (p.Met354Val)
 dbSNP gnomAD v3 gnomAD v4
2g.224503669T>GCA350826946CUL3c.1360A>C (p.Met454Leu)
c.1162A>C (p.Met388Leu)
c.1288A>C (p.Met430Leu)
n.656A>C
c.82A>C (p.Met28Leu)
c.1378A>C (p.Met460Leu)
c.1327A>C (p.Met443Leu)
c.1213A>C (p.Met405Leu)
c.1318A>C (p.Met440Leu)
c.1168A>C (p.Met390Leu)
c.1060A>C (p.Met354Leu)
2g.224503669T=CA1331555925CUL3c.1360A= (p.Met454=)
c.1162A= (p.Met388=)
c.1288A= (p.Met430=)
n.656A=
c.82A= (p.Met28=)
c.1378A= (p.Met460=)
c.1327A= (p.Met443=)
c.1213A= (p.Met405=)
c.1318A= (p.Met440=)
c.1168A= (p.Met390=)
c.1060A= (p.Met354=)
2g.224503670G>ACA431492566CUL3c.1359C>T (p.Asn453=)
c.1161C>T (p.Asn387=)
c.1287C>T (p.Asn429=)
n.655C>T
c.81C>T (p.Asn27=)
c.1377C>T (p.Asn459=)
c.1326C>T (p.Asn442=)
c.1212C>T (p.Asn404=)
c.1317C>T (p.Asn439=)
c.1167C>T (p.Asn389=)
c.1059C>T (p.Asn353=)
 dbSNP
2g.224503670G>CCA350826947CUL3c.1359C>G (p.Asn453Lys)
c.1161C>G (p.Asn387Lys)
c.1287C>G (p.Asn429Lys)
n.655C>G
c.81C>G (p.Asn27Lys)
c.1377C>G (p.Asn459Lys)
c.1326C>G (p.Asn442Lys)
c.1212C>G (p.Asn404Lys)
c.1317C>G (p.Asn439Lys)
c.1167C>G (p.Asn389Lys)
c.1059C>G (p.Asn353Lys)
2g.224503670G>TCA350826948CUL3c.1359C>A (p.Asn453Lys)
c.1161C>A (p.Asn387Lys)
c.1287C>A (p.Asn429Lys)
n.655C>A
c.81C>A (p.Asn27Lys)
c.1377C>A (p.Asn459Lys)
c.1326C>A (p.Asn442Lys)
c.1212C>A (p.Asn404Lys)
c.1317C>A (p.Asn439Lys)
c.1167C>A (p.Asn389Lys)
c.1059C>A (p.Asn353Lys)
2g.224503670_224503671delinsGTCA1331555926CUL3c.1358_1359delinsAC (p.Asn453=)
c.1160_1161delinsAC (p.Asn387=)
c.1286_1287delinsAC (p.Asn429=)
n.654_655delinsAC
c.80_81delinsAC (p.Asn27=)
c.1376_1377delinsAC (p.Asn459=)
c.1325_1326delinsAC (p.Asn442=)
c.1211_1212delinsAC (p.Asn404=)
c.1316_1317delinsAC (p.Asn439=)
c.1166_1167delinsAC (p.Asn389=)
c.1058_1059delinsAC (p.Asn353=)
2g.224503671T>ACA350826950CUL3c.1358A>T (p.Asn453Ile)
c.1160A>T (p.Asn387Ile)
c.1286A>T (p.Asn429Ile)
n.654A>T
c.80A>T (p.Asn27Ile)
c.1376A>T (p.Asn459Ile)
c.1325A>T (p.Asn442Ile)
c.1211A>T (p.Asn404Ile)
c.1316A>T (p.Asn439Ile)
c.1166A>T (p.Asn389Ile)
c.1058A>T (p.Asn353Ile)
 dbSNP
2g.224503671T>CCA350826951CUL3c.1358A>G (p.Asn453Ser)
c.1160A>G (p.Asn387Ser)
c.1286A>G (p.Asn429Ser)
n.654A>G
c.80A>G (p.Asn27Ser)
c.1376A>G (p.Asn459Ser)
c.1325A>G (p.Asn442Ser)
c.1211A>G (p.Asn404Ser)
c.1316A>G (p.Asn439Ser)
c.1166A>G (p.Asn389Ser)
c.1058A>G (p.Asn353Ser)
2g.224503671T>GCA350826953CUL3c.1358A>C (p.Asn453Thr)
c.1160A>C (p.Asn387Thr)
c.1286A>C (p.Asn429Thr)
n.654A>C
c.80A>C (p.Asn27Thr)
c.1376A>C (p.Asn459Thr)
c.1325A>C (p.Asn442Thr)
c.1211A>C (p.Asn404Thr)
c.1316A>C (p.Asn439Thr)
c.1166A>C (p.Asn389Thr)
c.1058A>C (p.Asn353Thr)
2g.224503677dupCA645514935CUL3c.1358dup (p.Asn453LysfsTer5)
c.1160dup (p.Asn387LysfsTer5)
c.1286dup (p.Asn429LysfsTer5)
n.654dup
c.80dup
c.1376dup (p.Asn459LysfsTer5)
c.1325dup (p.Asn442LysfsTer5)
c.1211dup (p.Asn404LysfsTer5)
c.1316dup (p.Asn439LysfsTer5)
c.1166dup (p.Asn389LysfsTer5)
c.1058dup (p.Asn353LysfsTer5)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC

Number of alleles fetched